INTERNATIONAL DNA DAY AND GENOME CONGRESS 2017 (IDDGC’17) ABSTRACT BOOK, 2017
Aims and Scopes: The severity of acute bronchiolitis associate with degree of immune response. Pa... more Aims and Scopes: The severity of acute bronchiolitis associate with degree of immune response. Patients with lower respiratory tract (LRT) RSV infections were investigated for genetically susceptibility(1). We aimed to determine the association of surfactant B and D gene polymorphisms with acute bronchiolitis in infants younger than 1 year of age. Materials and Methods: One hundred and six patients diagnosed with acute bronchiolitis and 107 healthy children from outpatient of pediatric polyclinics of Gaziosmanpasa University hospital between January 2015 and January 2016 were enrolled to the study. Acute bronchiolitis was diagnosed with clinical symptoms and findings (2). Blood samples were collected from each subject, and DNA was extracted from peripheral blood samples using a GeneAll® ExgeneTM Blood SV Genomic DNA Kit according to the manufacturer‘s instructions. SP-B intron 4 and C/A-18 gene polymorphisms were analyzed by a polymerase chain reaction (PCR)- based restriction fragment length polymorphism (RFLP) method. Results and Discussion: A total of 106 infants with acute bronchiolitis were enrolled in this study and another 107 infants without bronchiolitis were recruited for the control group. Forty-five (42.5%) of 106 patients diagnosed with bronchiolitis in the study were female. In bronchiolitis patient group, ten infants were 1–3 months, and 96 were 3–12 months of age. The respective genotype frequencies of the inv/inv, inv/(ins/del), ins/ins, and del/del genotypes of SP-B intron 4 were 93.3%, 4.7%, 0.9% and 0.9% in acute bronchiolitis subjects and 84.1%, 15.8%, 0% and 0% in controls (p = .0111). SP-B C/A-18 polymorphisms did not influence the risk of acute bronchiolitis (p > 0.05). The genotype frequencies of the CC, CA, and AA genotypes of SP-B C/A-18 were 22.1%, 48.0, and 29.8% in acute bronchiolitis infants and 17.4%, 53.3%, and 29.1% in controls, respectively (p=0.6428). The allelic frequency of the C allele and A allele were 46.3% in acute bronchiolitis subjects and 32.4% in controls (p = 0.3440). There is a possible association between the SP-B gene and susceptibility to acute bronchiolitis infection. We did not be able to find any research about SP-B and acute bronchiolitis. But, the A-allele of SP-C gene is suggested to associate with reduced pulmonary function and may predispose to lower respiratory disease (3). Some variant of SP-B gene has been variably associated with increased risk for ARDS, COPD, and newborn RDS, as well (4). Also, there was suggested that the SP-B gene variants may increase the incidence or severity of disease in genetically vulnerable individuals. (5). The carriers of inv/inv homozygous genotype may have an increased risk for acute bronchiolitis disease in comparison with carriers of inv/(ins/inv) heterozygote genotype.
ÖZET Giriş ve Amaç: İdyopatik Hiperkalsiüri (İHK) çocuklarda sık görülen bir metabolik bozukluktu... more ÖZET Giriş ve Amaç: İdyopatik Hiperkalsiüri (İHK) çocuklarda sık görülen bir metabolik bozukluktur. Hematuri, dizüri, enürezis, kolik ve büyüme geriliği gibi semptomlara sebep olur ve genellikle ürolitiazisle sonuçlanır. İHK klinik belirtileri ve sıklığına dikkat çekmek amacıyla bu çalışma yapıldı. Yöntem: Polikliniğe başvuran 4-15 yaş arası 223 çocukta spot idrarda kalsium, kreatinin, sodyum, potasyum incelendi. İdrarda kalsiyum kreatinin oranı (İka/İkr) hesaplandı, 0.20 ve üzeri hiperkalsiüri olarak kabul edildi. Hastaların şikayetleri kaydedildi. Bulgular: 4-15 yaş arası 223 hastanın 124 (%55.6)’ü kız, 99 (%44.4)’u erkekti. Yaş ortalaması ise 8.7 ±3,1’di. 223 hastanın 32 (%14.3)’sinde İka/İkr 0.20’in üzerindeydi. Erkeklerdeki prevalans %18.2 iken kızlarda %11.3’tü. 223 hastanın 92(%41.3)’sinde idrar semptomu vardı. İdrar semptomu olan 92 hastanın 25(%27.2)’inde hiperkalsiüri tespit edildi. Hiperkalsiürili 25 (%78.1) hasta semptomatikti, en sık rastlanan semptom %68.8 (22 hasta) ile karın ağrısıydı. İHK olmayan 191 hastanın 47(%24.6)’inde karın ağrısı varken, İHK olan 32 hastanın 22 (%68,8)’sinde karın ağrısı vardı. Hiperkalsiürili olan vakalarda karın ağrısı görülme sıklığı daha fazlaydı (p<0,001). İHK olanlarda sodyumun kreatinine oran ortalaması 3,71±3,62’di. Diğer grupta ise sodyumun kreatinine oran ortalaması 1,70±1,28’di. İHK olan vakalarda sodyum atılımı daha fazlaydı (p<0,001). Sonuç: İHK ürolitiazis için en önemli risk faktörü olmasından, özellikle üriner sistem semptomları olan çocuklarda idrarda İka/İkr gibi invazif olmayan bir tetkikle taranmalı ve tedavisinde başlangıçta sodyumdan fakir potasyumdan zengin diyet denenebilir. Anahtar Kelimeler: Hiperkalsiüri, idrar kalsiyum kreatinin oranı, idrar yolları semptomları, idrarda sodyum atılımı. ABSTRACT Objective: Idiopathic hypercalciuria (IHC) is very frequently seen metabolic disorder in children and causes to some symptoms as hematuria, disuria, enuresis, cholic pain and growth retardation. IHC is generally ended with urolithiasis. In this research , we aim to notice frequency and clinically importance of hypercalciuria. Method: In pediatric polyclinic, 4 to 15 year old children detected for hypercalciuria by calcium, creatinine, sodium and potasium measuring in spot urine samples. we calculated the urine calcium creatinine ratio (Uca/Ucr) and 0,20 and above accepted hypercalciuria (3). Urinary tract symptoms were recorded. Results: We studied 223 children in our pediatric polyclinic with an age range of 4 to 15 years (mean= 8.7 ±3,18.7 ±3,1). 124 (%55.6) chidren were female and 99 (%44.4) were male. In study group, we found urine calcium creatinine ratio 0,20 and above in 32 (%14.3). The prevalence was %18.2 in males and in females was %11.3. 92(%41.3) children were have urinary system symptoms and hypercaluria was found in 25(%27.2) from these 92 symptomatic children. Of all hypercalciuric 32 children, 25(%78.1) children were symptomatic and the most frequently symptoms was abdominal pain with %68.8 frequency (22 children). However in nonhypercaiuric 191 children abdominal pain was found 47(%24.6) children, from hypercalciuric children 22(%68,8) patients had abdominal pain (p<0,001). The mean sodium creatinine ratio, in hypercalciuric children was 3,71±3,62 and in nonhypercaiuric was 1,70±1,28 (p<0,001). Conclusions: Because of the IHC frequently ended in urolithiasis, especially in urinary tract sympomatic children Uca/Ucr should be studied that is not invasive test and patients with IHC can be treated firstly with sodium restricted and potasium richly diets. Key words: Idiopathic hypercalciuria, urine calcium creatinine ratio, urinary tract symptoms, urinary excretion of sodium.
Background: Obesity, one of the most common disorders observed in clinical practice, has been ass... more Background: Obesity, one of the most common disorders observed in clinical practice, has been associated with energy metabolism-related protein genes such as uncoupling proteins (UCPs). Herein, we evaluated UCPs as candidate genes for obesity and its morbidities. Methods: A total of 268 obese and 185 nonobese children and adolescents were enrolled in this study. To determine dyslipidemia, hypertension, and insulin resistance, laboratory tests were derived from fasting blood samples. UCP1-3826 A/G, UCP2 exon 8 deletion/insertion (del/ins), and UCP3–55C/T variants were also gen-otyped, and the relationships among the polymorphisms of these UCPs and obesity morbidities were investigated. Results: The mean ages of the obese and control groups were 11.61 – 2.83 and 10.74 – 3.36 years, respectively. The respective genotypic frequencies of the AA, AG, and GG genotypes of UCP1 were 46.3%, 33.2%, and 20.5% in obese subjects and 46.5%, 42.2%, and 11.4% in the controls (p = 0.020). G alleles were more frequent in obese subjects with hypertriglyceridemia (42.9%; p = 0.048) than in those without, and the GG genotype presented an odds ratio for obesity of 2.02 (1.17–3.47; p = 0.010). The polymorphisms of UCP2 exon 8 del/ins and UCP3–55C/T did not influence obesity risk (p > 0.05). The I (ins) allele was associated with low HDL cholesterolemia (p = 0.023). Conclusion: The GG genotype of the UCP1-3826 A/G polymorphism appears to contribute to the onset of childhood obesity in Turkish children. The GG genotype of UCP1, together with the del/del genotype of the UCP2 polymorphism, may increase the risk of obesity with synergistic effects. The ins allele of the UCP2 exon 8 del/ins polymorphism may contribute to low HDL cholesterolemia.
ÖZ Amaç: Erken taburculuk uygulamalarının yaygınlaşmasıyla hipernatremik dehidratasyon, yenidoğan... more ÖZ Amaç: Erken taburculuk uygulamalarının yaygınlaşmasıyla hipernatremik dehidratasyon, yenidoğan servislerine tekrar yatışın en sık nedenlerinden olmuştur. Hipernatremik dehidratasyonlu bebeklerin çoğunun aktif ve emme reflekslerinin güçlü olması, erken tanının gecikmesine neden olmaktadır. Gereç ve Yöntemler: Yenidoğan yoğun bakım ünitesine (YYBÜ'ne) yatırılmış olan ve sodyum değeri ≥147 mmol/L olan zamanında doğmuş ve geç prematüre bebekler geriye dönük olarak çalışmaya alındı. Konjenital anomalisi olan ve beslenmeyi olumsuz etkileyecek hastalığı olan bebekler çalışma dışı bırakıldı. Bulgular: YYBÜ'de izlenen 21 (%50)'i kız olmak üzere 42 hasta çalışmaya dahil edildi.YYBÜ'ne çeşitli etiyolojilerle yatırılmış 1100 geç prematüre ve zamanında doğmuş bebek içinde hipernatremik dehidratasyon sıklığı YYBÜ için % 3,8 olarak belirlendi. Çalışma gurubunun başvuru yaş ortalaması 4,50±0,71 gün (1 ile 15 gün arası), doğum ağırlığı ortalaması 3012±576 gr (1700 ile 4210 gr arası), doğum haftası ortalaması 37,91±1,95 haftaydı (34 ile 41 hafta arası). Hastaların serum sodyum ortalama değeri 152,36±4,48 mmol/L (147 ile 165 mmol/L arasında) idi. Doğum ağırlığından yüzdelik kilo kaybı oranı ortalaması 34 hasta için %8,88±4,74 (%0 ile %17 arası) idi. Serum sodyum değeri ve yüzde kilo kaybı arasında orta derecede anlamlı korelasyon vardı (r=+0.45, p= 0.008). 21 bebekte (%50,0) sarılık saptanırken, 6 hastada sarılığa ek olarak dehidratasyona bağlı ateş vardı. Sonuç: Yenidoğanlarda son dönemlerde artan hastaneden erken taburculuk sebebiyle, akut ve uzun dönemde mortalite ve morbiditesi fazla olan hipernatremik dehidratasyona sık rastlanmaktadır. ABSTRACT Aim: Hypernatremic dehydration, after early postpartum hospital discharge, has been among the most common causes of hospitalization in newborn intensive care unit (NICU). Because of the newborns with hypernatremic dehydration are commonly active and reflex sucks is present, hypernatremic dehydration is tardy recognized. Material And Methods: Term and near term newborns that had been hospitalized between July 2012 and December 2015 in NICU with serum sodium level ≥147 mmol/L were retrospectively enrolled in the present study. The newborns that had congenital anomalies or illnesses which may disturb feeding were excluded. Results: The hospitalized 42 newborn infants with hypernatremic dehydration in NICU were enrolled and females were 21 (50%). In NICU, 1100 term and late preterm newborns were hospitalized, so, the frequency of hypernatremic dehydration was 3.8% in the NICU. The means of age and birth weight, and gestati-onal age were 4.50±0.71 days (between 1 to 15 days), and 3012±576 gr (between 1700 to 4210 gr), and, 37.91±1.95 weeks (between 34 to 41 weeks), respectively. The means of percent's weight losses and serum sodium levels were 8.88±4.74% (between 0 and 17%) and 152.36±4.48 mmol/L (between 147 to 165 mmol/L), respectively. We observed a moderately significant positive relationship between values of percent's weight losses and serum sodium levels(r=+0.45, p= 0.008). The jaundice was observed in 21(50%) subjects, and fever added to jaundice was determined in 6 (14.3%) subjects. Conclusions: After early postpartum hospital discharge,hypernatremic dehydration, a potentially having commonly mortalities and morbidities, is an ongoing and frequent problem.
Aim: Hypercalciuria is an important cause of urinary tract symptoms, and also frequently results ... more Aim: Hypercalciuria is an important cause of urinary tract symptoms, and also frequently results in urolithiasis. Urinary calcium excretion varies for geographic areas. We aimed to assess percentiles of urinary calcium excretion and prevalence of hypercalciuria for school-aged children in Tokat (city located in inner northern region of Turkey). Material and Methods: One thousand three hundred seventy-five children aged 6 to 18 years were enrolled in the study. Urine samples were obtained randomly. The children's variables as sex, age, length, and weight were recorded. Urinary calcium and creatinine determined from the urine samples and urinary calcium/creatinine ratios (mg/mg) were calculated. Percentiles of urinary calcium/creatinine ratios were also assessed for each age of the children. Results: Six hundred eighty-three of the 1 375 children were girls and 692 were boys. The mean age of the children was 11.68±3.43 years. Some 23.9% of the children were living in rural regions and 76.1% were were living in urban regions. The mean urinary calcium/creatinine ratio was 0.080±0.24 and the 95th percentile value of the urinary calcium/creatinine ratio was 0.278. The hypercalciuria prevalence for school-aged children was 4.7% when the urinary calcium/creatinine ratio value for hypercalciuria was accepted as ≥0.21. The prevalence of hypercalciuria in rural and urban regions was 7.60% and 3.82%, respectively (p<0.05). Hypercalciuria was present in 7 of 141 patients who were obese (4.96%) and 58 of 1 234 patients who were not obese (4.70%) (p>0.05). Conclusion: The prevalence of hypercalciuria and urinary calcium excretion vary for different geographic areas, not only for countries. The per-centiles of urinary calcium excretion should be assesed for every geographic region and the prevalance of hypercalciuria should be determined with these values. There is controversy as to whether obesity is a risk factor for hypercalciuria. (Turk Pediatri Ars 2016; 51: 193-7)
Background and aim: Childhood obesity is associated with an increased risk of chronic disease. We... more Background and aim: Childhood obesity is associated with an increased risk of chronic disease. We aimed to determine the association between vitamin D defi ciency and cardiovascular risks in obese children. Method: The studied children were selected from obese children who were followed up at obesity clinic, aged 6-17 years. Basic demographic information and laboratory data were collected retrospectively from hospital records. Results: A total of 310 students (178 [57.4%] girls) were evaluated for 25-hydroxyvitamin D (25[OH] D) levels in late winter/spring. The prevalence rates of vitamin D defi ciency, insuffi ciency, and suffi ciency were 62.3%, 34.5%, and 3.2%, respectively. Insulin resistance was observed in 146 (47.1%) children; the frequencies of dyslipidemia and hypertension were 31% and 19.4%, respectively. The mean atherogenic dyslipidemia ratio was higher in the defi cient group (p = 0.049). Inverse correlations of 25(OH) D levels were observed with homeostasis model assessment of insulin resistance values (r = -0.146, p = 0.010). The mean values of 25(OH) D (ng/mL) were lower in girls (12.15 ± 6.60) than in boys (16.48 ± 8.69) (p < 0.05) and in children with hypertension (11.92 ± 5.48) than in those without (14.50 ± 8.24) (p < 0.05). Conclusions: Vitamin D defi ciency is observed more frequently than expected in obese children and adolescents. Our fi ndings indicate that low 25(OH) D levels are associated with insulin resistance. Vitamin D defi ciency could contribute to the morbidities associated with childhood obesity, such as insulin resistance or diabetes mellitus, increased cardiovascular/cardiometabolic risks, atherogenic dyslipidemia, and hypertension.
Objective: Diagnosis of sleep disorders (SD) and restless legs syndrome (RLS) in school-age pedia... more Objective: Diagnosis of sleep disorders (SD) and restless legs syndrome (RLS) in school-age pediatric population and finding their relevant factors are important to prevent disease dependent complications such as growth-development retardation, loss of neurocognitive function and school failure. The aim of the present study was to determine whether there is a relationship between socio-demographic characteristics, SD and RLS in school children. Materials and Methods: Middle and high school students aged between 13 and 17 were questioned about socio-demographic data, RLS survey and pediatric sleep questionnaire (PSQ). The study included 3.568 appropriately completed surveys. The total PSQ score was 4.3±3.3 for female students and 3.9±3.3 for male students. PSQ score was ≥8 in 326 of 1.992 female students (16.4%), in 215 of 1.576 male students (13.6%) and in 541 of all students (15.2%). The RLS frequency was 4.4% for all students, 4.6% for female students and 4.1% for male students. Total PSQ score, snoring, sleepiness and behavior subscale score had significant correlation with RLS in both genders. A weak but significant correlation was found between PSQ total score and BMI Z score (r=0.256, p<0.001). There was a strong correlation between PSQ score and RLS. The odds ratio of RLS was 2.04 (95% confidence interval: 1.87-2.22) for PSQ score. Conclusion: RLS has close relationships with sleep-related breathing disorders, daytime sleepiness and behavioral problems irrespective of socio-demographic data.
Hashimoto's thyroiditis (HT) was described many years ago, but the etiopathogenesis remains uncle... more Hashimoto's thyroiditis (HT) was described many years ago, but the etiopathogenesis remains unclear. Mannose-binding lectin (MBL) initiates complement activation in the lectin pathway. We determined MBL levels in children with HT and the associations thereof with thyroid hormone and thyroid autoantibody levels. Thirty-nine patients with HT and 41 controls were enrolled from the pediatric outpatient clinics. Subjects were grouped according to their thyroid functions: Euthyroid, marked hypothyroidism and clinical/subclinical hyperthyroidism. MBL levels were compared among these groups. Serum MBL levels of the subjects were determined using MBL Human ELISA kit. Serum MBL levels were studied in serum samples from the 80 subjects (48 (60.0%) females). MBL levels in HT and control groups were 50.787±34.718 and 50.593±44.28 ng/ml (p=0,983), respectively. In HT group, there was no significant difference in MBL levels between thyroid function groups (p=0.869). In addition, gender was not detected as a factor for serum MBL levels. Also we found negative correlation between WBC and serum MBL levels (r=-0.532; p=0.050). Otherwise there was no correlation between TSH, anti-TPO and anti-TG with serum MBL levels. CONCLUSION: MBL levels did not decrease in HT patients. Further research is needed to elucidate more fully any role for MBL in the development of autoimmune thyroid disease.
Aim: Immune thrombocytopenia (ITP) is the most common acquired bleeding disorder in childhood. Th... more Aim: Immune thrombocytopenia (ITP) is the most common acquired bleeding disorder in childhood. The study aimed to assess the demographic and clinical characteristics, and treatment responses and to evaluate their effects on chronicity in pediatric ITP cases. Material and Methods: Primary ITP patients aged 1 month to 18 years, who were diagnosed and followed up in the Pediatrics Clinic of Tokat Gaziosmanpaşa University Hospital between January 2010 and December 2018, were retrospectively analyzed. Results: Thirty-eight patients with a diagnosis of primary ITP were included in the study. The mean age of the patients was 94.3±53.4 (14-199) months. The female/male ratio was 1. Twenty (57.1%) patients had acute ITP, and 15 (42.9%) patients had chronic ITP. There was no significant difference between the acute ITP group and the chronic ITP group in demographic, clinical features, laboratory findings, and treatment responses. In the first 12 months, the number of admissions with a platelet...
Daha onceden saglikli olan 36 gunluk kiz hasta 20 gun sure ile 3 cay kasigi D vit 3 damla verilme... more Daha onceden saglikli olan 36 gunluk kiz hasta 20 gun sure ile 3 cay kasigi D vit 3 damla verilme sonrasi klinigimize getirildi. Onceki 20 gun icersinde gunde 12500 U(1 cay kasigi 1,25ml , 15ml=50000 IU=1,25 mg) toplamda 250000 IU vitamin D verilmisti. Laboratuvar testlerinde Serum Ca: 11,2 mg/dl (8,0- 10,2), 25(OH) VIT D : 112,2 ng/ml, PTH (Paratiroid hormon): 60,02 pg / ml (9- 65) bulundu. IV sivi tedavisi, furosemid, kalsiyum ve vitamin D den kisitli diyet ile tedavi edildi. 23 gun sonra serum vitamin D duzeyi guvenli duzeye indi. Vitamin D yagda cozunen bir vitamin oldugu icin etkileri aylar sonra sonlanabilir. Kalsiyum ve vitamin D den kisitli diyet tedavinin suresini kisaltabilir. Bu olgu sunumunda proflaksi amacli rutin ilac uygulamalarinda yanlis anlama ve ilac verilmesinin asiri dozda ilac alimina veya zehirlenmeye yol acabilecegi ve konvansiyonel uygun tedavi ile kisa surede olumlu cevap alinabilecegi vurgulanmistir.
In kidney diseases, renal damage may be mild and initially asymptomatic. Proteinuria, a marker of... more In kidney diseases, renal damage may be mild and initially asymptomatic. Proteinuria, a marker of kidney injury, directly contributes to chronic tubulointerstitial damage. We investigated the prevalence of proteinuria (POP) in school-aged children in Turkey. Materials and Methods: The cluster sampling method was used to calculate the required size of the study group for this cross-sectional study. Urine samples were randomly obtained to determine urinary protein/creatinine ratio (Upr/Ucr) from 1374 children aged 6 to 18 years. POP was also specifically assessed in hypertensive and obese children. Results: The mean age of the subjects was 11.68±3.43 years. The children were from rural (23.9%) and urban (76.1%) regions of Tokat, Turkey. Upr/Ucr ≥0.20 was detected in 92 children, corresponding to a POP rate of 6.7%, without any statistically significant difference between girls and boys. Among 141 obese children, 16 (11.3%) and 76 of 1233 non-obese children (6.2%) had proteinuria (p<0.05). Children with hypertension had a POP of 7.5% compared to the 6.7% of those without hypertension (p>0.05). Conclusion: Among school-aged Turkish children POP was 6.7%. POP was higher in obese than in non-obese children. But there was no association between POP and hypertension. While screening programs allow the early detection of renal disease, further cohort studies are required to be able to suggest urinary screening programs.
Kırım-Kongo kanamalı ateşi (KKKA), hemorajik belirtilerle hayatı tehdit eden viral bir zoonotik h... more Kırım-Kongo kanamalı ateşi (KKKA), hemorajik belirtilerle hayatı tehdit eden viral bir zoonotik hastalıktır. Bu çalışmanın amacı KKKA vakalarında hastalık şiddet skoruna trombosit sayısı (PLT) ve ortalama trombosit hacmi (mean platelet volume=MPV), ortalama trombosit kitlesi (mean platelet mass=MPM) gibi trombosit hacmi ve kitlesi ilgili indekslerin etkisini değerlendirmektir. Gereç ve Yöntem: 1 Aralık 2013-15 Ağustos 2016 tarihleri arasında Çocuk Yoğun Bakım Ünitesine kabul edilen 22 KKKA hastasından elde edilen veriler retrospektif olarak incelendi. Yaş, cinsiyet, biyokimyasal ve mikrobiyolojik veriler, trombosit sayısı ve MPV, MPM, hemorajik belirtiler ve mortalite durumu kaydedildi. Bulgular: Hastalık semptom skorlama indeksi gruplamasına göre Ağır CCHF'Lİ hastalarda Hafif KKKA'lı gruba kıyasla istatistiksel olarak MPV'de artma ve PLT'DE anlamlı bir azalma, anlamlı derecede daha yüksek aktive parsiyel tromboplastin zamanı (aPTT) gözlendi. MPM açısından hafif ve ağır KKKA grupları arasında anlamlı bir fark saptanmadı. Tartışma: KKKA'daki trombosit fonksiyonlarını çocuk yoğun bakım ünitesinde yatırılan hastalarda değerlendiren ilk çalışmadır. Trombosit fonksiyonları, PLT kadar hastaların semptom skorlama indeksine göre sınıflamada katkıda bulunabilir. Bu çalışma, başvurudaki MPV değerlerinin hastalık ciddiyetini öngörmede yararlı olabileceğini göstermektedir. Anahtar Kelimeler: Kırım-Kongo kanamalı ateşi, çocuk yoğun bakım, ortalama trombosit hacmi, hastalık şiddet skorlaması Objective: Crimean-Congo hemorrhagic fever (CCHF) is a life-threatening viral zoonotic disease with hemorrhagic symptoms. The aim of this study was to evaluate the effect of platelet volume and mass related indexes such as platelet count (PLT) and mean platelet volume (MPV) and mean platelet mass (MPM) on disease severity score in CCHF cases. Material and Method: Data from 22 patients admitted to the pediatric intensive care unit between 1 December 2013-15 August 2016, were retrospectively examined. Age, gender, biochemical and microbiological data, platelet count, MPV and MPM, hemorrhagic symptoms and mortality status were recorded. Results: statistically, an increase in MPV and a significant decrease in PLT and a significantly higher activated partial thromboplastin time (aPTT) were observed in patients with severe CCHF compared to the group with mild CCHF according to the disease symptom scoring index grouping. No significant difference was found between mild and severe CCHF groups in terms of MPM. Conclusion: This is the first study to evaluate platelet functions in CCHF in patients admitted to the pediatric intensive care unit. Platelet functions can contribute to classification according to the symptom scoring index of patients as well as PLT. This study suggests that MPV values in the admission may be useful in predicting disease severity.
Familial Mediterranean Fever (FMF) is an autoinflammatory and chronic disorder. Colchicine has be... more Familial Mediterranean Fever (FMF) is an autoinflammatory and chronic disorder. Colchicine has been prescribed to treat FMF since 1972. Balance is a complex function of the neuromuscular system. The aim of this study is to determine 1) if there is a connection between FMF and dynamic balance, 2) if colchicine use affects balance, and 3) if the disease severity score is related to a disruption in balance. Materials and Methods: The study examined 50 pediatric patients with FMF and 130 healthy age-and sex-matched children as control subjects. Dynamic postural stability was measured using the Biodex Stability System (BSS). Results: The stability indices were significantly higher in the FMF group than in the controls. There was no relationship between the FMF disease severity score and the three stability indices, while the colchicine dose was related to all three stability indices. Conclusion: By detecting any change in balance status early using a simple, safe, objective measurement of balance via the BSS in FMF patients, neuromyopathy could be identified earlier and unwanted outcomes prevented.
Background: Neonatal thrombocytopenia is a common hematological abnormality that occurs in 20-35%... more Background: Neonatal thrombocytopenia is a common hematological abnormality that occurs in 20-35% of all newborns in the neonatal intensive care unit. Platelet transfusion is the only known treatment; however, it is the critical point to identify neonates who are really at risk of bleeding and benefit from platelet transfusion as it also has various potential harmful effects. Aims: To investigate the prevalence and risk factors of neonatal thrombocytopenia and its relationship to intraventricular hemorrhage in the neonatal intensive care unit and to determine whether the use of platelet mass index-based criteria could reduce the rate of platelet transfusion. Study Design: Retrospective cohort study. Methods: This study was conducted in the neonatal intensive care unit of a tertiary university hospital. The medical records of neonates in the neonatal intensive care unit with platelet counts <150×10 9 /L between January 2013 and July 2016 were analyzed. Results: During the study period, 2,667 patients were admitted to the neonatal intensive care unit, and 395 (14%) had thrombocytopenia during hospitalization. The rate of intraventricular hemorrhage was 7.3%. Multiple logistic regression analysis showed that although lower platelet counts were associated with a higher intraventricular hemorrhage rate, the effects of respiratory distress syndrome, sepsis, and patent ductus arteriosus were more prominent than the degree of thrombocytopenia. Thirty patients (7%) received platelet transfusion, and these patients showed a significantly higher mortality rate than their non-platelet transfusion counterparts (p<0.001). In addition, it was found that the use of platelet mass index-based criteria for platelet transfusion in our patients would reduce the rate of platelet transfusion by 9.5% (2/21). Conclusion: Neonatal thrombocytopenia is usually mild and often resolves without treatment. As platelet transfusion is associated with an increased mortality rate, its risks and benefits should be weighed carefully. The use of platelet mass index-based criteria may reduce platelet transfusion rates in the neonatal intensive care unit, but additional data from prospective studies are required.
INTERNATIONAL DNA DAY AND GENOME CONGRESS 2017 (IDDGC’17) ABSTRACT BOOK, 2017
Aims and Scopes: The severity of acute bronchiolitis associate with degree of immune response. Pa... more Aims and Scopes: The severity of acute bronchiolitis associate with degree of immune response. Patients with lower respiratory tract (LRT) RSV infections were investigated for genetically susceptibility(1). We aimed to determine the association of surfactant B and D gene polymorphisms with acute bronchiolitis in infants younger than 1 year of age. Materials and Methods: One hundred and six patients diagnosed with acute bronchiolitis and 107 healthy children from outpatient of pediatric polyclinics of Gaziosmanpasa University hospital between January 2015 and January 2016 were enrolled to the study. Acute bronchiolitis was diagnosed with clinical symptoms and findings (2). Blood samples were collected from each subject, and DNA was extracted from peripheral blood samples using a GeneAll® ExgeneTM Blood SV Genomic DNA Kit according to the manufacturer‘s instructions. SP-B intron 4 and C/A-18 gene polymorphisms were analyzed by a polymerase chain reaction (PCR)- based restriction fragment length polymorphism (RFLP) method. Results and Discussion: A total of 106 infants with acute bronchiolitis were enrolled in this study and another 107 infants without bronchiolitis were recruited for the control group. Forty-five (42.5%) of 106 patients diagnosed with bronchiolitis in the study were female. In bronchiolitis patient group, ten infants were 1–3 months, and 96 were 3–12 months of age. The respective genotype frequencies of the inv/inv, inv/(ins/del), ins/ins, and del/del genotypes of SP-B intron 4 were 93.3%, 4.7%, 0.9% and 0.9% in acute bronchiolitis subjects and 84.1%, 15.8%, 0% and 0% in controls (p = .0111). SP-B C/A-18 polymorphisms did not influence the risk of acute bronchiolitis (p > 0.05). The genotype frequencies of the CC, CA, and AA genotypes of SP-B C/A-18 were 22.1%, 48.0, and 29.8% in acute bronchiolitis infants and 17.4%, 53.3%, and 29.1% in controls, respectively (p=0.6428). The allelic frequency of the C allele and A allele were 46.3% in acute bronchiolitis subjects and 32.4% in controls (p = 0.3440). There is a possible association between the SP-B gene and susceptibility to acute bronchiolitis infection. We did not be able to find any research about SP-B and acute bronchiolitis. But, the A-allele of SP-C gene is suggested to associate with reduced pulmonary function and may predispose to lower respiratory disease (3). Some variant of SP-B gene has been variably associated with increased risk for ARDS, COPD, and newborn RDS, as well (4). Also, there was suggested that the SP-B gene variants may increase the incidence or severity of disease in genetically vulnerable individuals. (5). The carriers of inv/inv homozygous genotype may have an increased risk for acute bronchiolitis disease in comparison with carriers of inv/(ins/inv) heterozygote genotype.
ÖZET Giriş ve Amaç: İdyopatik Hiperkalsiüri (İHK) çocuklarda sık görülen bir metabolik bozukluktu... more ÖZET Giriş ve Amaç: İdyopatik Hiperkalsiüri (İHK) çocuklarda sık görülen bir metabolik bozukluktur. Hematuri, dizüri, enürezis, kolik ve büyüme geriliği gibi semptomlara sebep olur ve genellikle ürolitiazisle sonuçlanır. İHK klinik belirtileri ve sıklığına dikkat çekmek amacıyla bu çalışma yapıldı. Yöntem: Polikliniğe başvuran 4-15 yaş arası 223 çocukta spot idrarda kalsium, kreatinin, sodyum, potasyum incelendi. İdrarda kalsiyum kreatinin oranı (İka/İkr) hesaplandı, 0.20 ve üzeri hiperkalsiüri olarak kabul edildi. Hastaların şikayetleri kaydedildi. Bulgular: 4-15 yaş arası 223 hastanın 124 (%55.6)’ü kız, 99 (%44.4)’u erkekti. Yaş ortalaması ise 8.7 ±3,1’di. 223 hastanın 32 (%14.3)’sinde İka/İkr 0.20’in üzerindeydi. Erkeklerdeki prevalans %18.2 iken kızlarda %11.3’tü. 223 hastanın 92(%41.3)’sinde idrar semptomu vardı. İdrar semptomu olan 92 hastanın 25(%27.2)’inde hiperkalsiüri tespit edildi. Hiperkalsiürili 25 (%78.1) hasta semptomatikti, en sık rastlanan semptom %68.8 (22 hasta) ile karın ağrısıydı. İHK olmayan 191 hastanın 47(%24.6)’inde karın ağrısı varken, İHK olan 32 hastanın 22 (%68,8)’sinde karın ağrısı vardı. Hiperkalsiürili olan vakalarda karın ağrısı görülme sıklığı daha fazlaydı (p<0,001). İHK olanlarda sodyumun kreatinine oran ortalaması 3,71±3,62’di. Diğer grupta ise sodyumun kreatinine oran ortalaması 1,70±1,28’di. İHK olan vakalarda sodyum atılımı daha fazlaydı (p<0,001). Sonuç: İHK ürolitiazis için en önemli risk faktörü olmasından, özellikle üriner sistem semptomları olan çocuklarda idrarda İka/İkr gibi invazif olmayan bir tetkikle taranmalı ve tedavisinde başlangıçta sodyumdan fakir potasyumdan zengin diyet denenebilir. Anahtar Kelimeler: Hiperkalsiüri, idrar kalsiyum kreatinin oranı, idrar yolları semptomları, idrarda sodyum atılımı. ABSTRACT Objective: Idiopathic hypercalciuria (IHC) is very frequently seen metabolic disorder in children and causes to some symptoms as hematuria, disuria, enuresis, cholic pain and growth retardation. IHC is generally ended with urolithiasis. In this research , we aim to notice frequency and clinically importance of hypercalciuria. Method: In pediatric polyclinic, 4 to 15 year old children detected for hypercalciuria by calcium, creatinine, sodium and potasium measuring in spot urine samples. we calculated the urine calcium creatinine ratio (Uca/Ucr) and 0,20 and above accepted hypercalciuria (3). Urinary tract symptoms were recorded. Results: We studied 223 children in our pediatric polyclinic with an age range of 4 to 15 years (mean= 8.7 ±3,18.7 ±3,1). 124 (%55.6) chidren were female and 99 (%44.4) were male. In study group, we found urine calcium creatinine ratio 0,20 and above in 32 (%14.3). The prevalence was %18.2 in males and in females was %11.3. 92(%41.3) children were have urinary system symptoms and hypercaluria was found in 25(%27.2) from these 92 symptomatic children. Of all hypercalciuric 32 children, 25(%78.1) children were symptomatic and the most frequently symptoms was abdominal pain with %68.8 frequency (22 children). However in nonhypercaiuric 191 children abdominal pain was found 47(%24.6) children, from hypercalciuric children 22(%68,8) patients had abdominal pain (p<0,001). The mean sodium creatinine ratio, in hypercalciuric children was 3,71±3,62 and in nonhypercaiuric was 1,70±1,28 (p<0,001). Conclusions: Because of the IHC frequently ended in urolithiasis, especially in urinary tract sympomatic children Uca/Ucr should be studied that is not invasive test and patients with IHC can be treated firstly with sodium restricted and potasium richly diets. Key words: Idiopathic hypercalciuria, urine calcium creatinine ratio, urinary tract symptoms, urinary excretion of sodium.
Background: Obesity, one of the most common disorders observed in clinical practice, has been ass... more Background: Obesity, one of the most common disorders observed in clinical practice, has been associated with energy metabolism-related protein genes such as uncoupling proteins (UCPs). Herein, we evaluated UCPs as candidate genes for obesity and its morbidities. Methods: A total of 268 obese and 185 nonobese children and adolescents were enrolled in this study. To determine dyslipidemia, hypertension, and insulin resistance, laboratory tests were derived from fasting blood samples. UCP1-3826 A/G, UCP2 exon 8 deletion/insertion (del/ins), and UCP3–55C/T variants were also gen-otyped, and the relationships among the polymorphisms of these UCPs and obesity morbidities were investigated. Results: The mean ages of the obese and control groups were 11.61 – 2.83 and 10.74 – 3.36 years, respectively. The respective genotypic frequencies of the AA, AG, and GG genotypes of UCP1 were 46.3%, 33.2%, and 20.5% in obese subjects and 46.5%, 42.2%, and 11.4% in the controls (p = 0.020). G alleles were more frequent in obese subjects with hypertriglyceridemia (42.9%; p = 0.048) than in those without, and the GG genotype presented an odds ratio for obesity of 2.02 (1.17–3.47; p = 0.010). The polymorphisms of UCP2 exon 8 del/ins and UCP3–55C/T did not influence obesity risk (p > 0.05). The I (ins) allele was associated with low HDL cholesterolemia (p = 0.023). Conclusion: The GG genotype of the UCP1-3826 A/G polymorphism appears to contribute to the onset of childhood obesity in Turkish children. The GG genotype of UCP1, together with the del/del genotype of the UCP2 polymorphism, may increase the risk of obesity with synergistic effects. The ins allele of the UCP2 exon 8 del/ins polymorphism may contribute to low HDL cholesterolemia.
ÖZ Amaç: Erken taburculuk uygulamalarının yaygınlaşmasıyla hipernatremik dehidratasyon, yenidoğan... more ÖZ Amaç: Erken taburculuk uygulamalarının yaygınlaşmasıyla hipernatremik dehidratasyon, yenidoğan servislerine tekrar yatışın en sık nedenlerinden olmuştur. Hipernatremik dehidratasyonlu bebeklerin çoğunun aktif ve emme reflekslerinin güçlü olması, erken tanının gecikmesine neden olmaktadır. Gereç ve Yöntemler: Yenidoğan yoğun bakım ünitesine (YYBÜ'ne) yatırılmış olan ve sodyum değeri ≥147 mmol/L olan zamanında doğmuş ve geç prematüre bebekler geriye dönük olarak çalışmaya alındı. Konjenital anomalisi olan ve beslenmeyi olumsuz etkileyecek hastalığı olan bebekler çalışma dışı bırakıldı. Bulgular: YYBÜ'de izlenen 21 (%50)'i kız olmak üzere 42 hasta çalışmaya dahil edildi.YYBÜ'ne çeşitli etiyolojilerle yatırılmış 1100 geç prematüre ve zamanında doğmuş bebek içinde hipernatremik dehidratasyon sıklığı YYBÜ için % 3,8 olarak belirlendi. Çalışma gurubunun başvuru yaş ortalaması 4,50±0,71 gün (1 ile 15 gün arası), doğum ağırlığı ortalaması 3012±576 gr (1700 ile 4210 gr arası), doğum haftası ortalaması 37,91±1,95 haftaydı (34 ile 41 hafta arası). Hastaların serum sodyum ortalama değeri 152,36±4,48 mmol/L (147 ile 165 mmol/L arasında) idi. Doğum ağırlığından yüzdelik kilo kaybı oranı ortalaması 34 hasta için %8,88±4,74 (%0 ile %17 arası) idi. Serum sodyum değeri ve yüzde kilo kaybı arasında orta derecede anlamlı korelasyon vardı (r=+0.45, p= 0.008). 21 bebekte (%50,0) sarılık saptanırken, 6 hastada sarılığa ek olarak dehidratasyona bağlı ateş vardı. Sonuç: Yenidoğanlarda son dönemlerde artan hastaneden erken taburculuk sebebiyle, akut ve uzun dönemde mortalite ve morbiditesi fazla olan hipernatremik dehidratasyona sık rastlanmaktadır. ABSTRACT Aim: Hypernatremic dehydration, after early postpartum hospital discharge, has been among the most common causes of hospitalization in newborn intensive care unit (NICU). Because of the newborns with hypernatremic dehydration are commonly active and reflex sucks is present, hypernatremic dehydration is tardy recognized. Material And Methods: Term and near term newborns that had been hospitalized between July 2012 and December 2015 in NICU with serum sodium level ≥147 mmol/L were retrospectively enrolled in the present study. The newborns that had congenital anomalies or illnesses which may disturb feeding were excluded. Results: The hospitalized 42 newborn infants with hypernatremic dehydration in NICU were enrolled and females were 21 (50%). In NICU, 1100 term and late preterm newborns were hospitalized, so, the frequency of hypernatremic dehydration was 3.8% in the NICU. The means of age and birth weight, and gestati-onal age were 4.50±0.71 days (between 1 to 15 days), and 3012±576 gr (between 1700 to 4210 gr), and, 37.91±1.95 weeks (between 34 to 41 weeks), respectively. The means of percent's weight losses and serum sodium levels were 8.88±4.74% (between 0 and 17%) and 152.36±4.48 mmol/L (between 147 to 165 mmol/L), respectively. We observed a moderately significant positive relationship between values of percent's weight losses and serum sodium levels(r=+0.45, p= 0.008). The jaundice was observed in 21(50%) subjects, and fever added to jaundice was determined in 6 (14.3%) subjects. Conclusions: After early postpartum hospital discharge,hypernatremic dehydration, a potentially having commonly mortalities and morbidities, is an ongoing and frequent problem.
Aim: Hypercalciuria is an important cause of urinary tract symptoms, and also frequently results ... more Aim: Hypercalciuria is an important cause of urinary tract symptoms, and also frequently results in urolithiasis. Urinary calcium excretion varies for geographic areas. We aimed to assess percentiles of urinary calcium excretion and prevalence of hypercalciuria for school-aged children in Tokat (city located in inner northern region of Turkey). Material and Methods: One thousand three hundred seventy-five children aged 6 to 18 years were enrolled in the study. Urine samples were obtained randomly. The children's variables as sex, age, length, and weight were recorded. Urinary calcium and creatinine determined from the urine samples and urinary calcium/creatinine ratios (mg/mg) were calculated. Percentiles of urinary calcium/creatinine ratios were also assessed for each age of the children. Results: Six hundred eighty-three of the 1 375 children were girls and 692 were boys. The mean age of the children was 11.68±3.43 years. Some 23.9% of the children were living in rural regions and 76.1% were were living in urban regions. The mean urinary calcium/creatinine ratio was 0.080±0.24 and the 95th percentile value of the urinary calcium/creatinine ratio was 0.278. The hypercalciuria prevalence for school-aged children was 4.7% when the urinary calcium/creatinine ratio value for hypercalciuria was accepted as ≥0.21. The prevalence of hypercalciuria in rural and urban regions was 7.60% and 3.82%, respectively (p<0.05). Hypercalciuria was present in 7 of 141 patients who were obese (4.96%) and 58 of 1 234 patients who were not obese (4.70%) (p>0.05). Conclusion: The prevalence of hypercalciuria and urinary calcium excretion vary for different geographic areas, not only for countries. The per-centiles of urinary calcium excretion should be assesed for every geographic region and the prevalance of hypercalciuria should be determined with these values. There is controversy as to whether obesity is a risk factor for hypercalciuria. (Turk Pediatri Ars 2016; 51: 193-7)
Background and aim: Childhood obesity is associated with an increased risk of chronic disease. We... more Background and aim: Childhood obesity is associated with an increased risk of chronic disease. We aimed to determine the association between vitamin D defi ciency and cardiovascular risks in obese children. Method: The studied children were selected from obese children who were followed up at obesity clinic, aged 6-17 years. Basic demographic information and laboratory data were collected retrospectively from hospital records. Results: A total of 310 students (178 [57.4%] girls) were evaluated for 25-hydroxyvitamin D (25[OH] D) levels in late winter/spring. The prevalence rates of vitamin D defi ciency, insuffi ciency, and suffi ciency were 62.3%, 34.5%, and 3.2%, respectively. Insulin resistance was observed in 146 (47.1%) children; the frequencies of dyslipidemia and hypertension were 31% and 19.4%, respectively. The mean atherogenic dyslipidemia ratio was higher in the defi cient group (p = 0.049). Inverse correlations of 25(OH) D levels were observed with homeostasis model assessment of insulin resistance values (r = -0.146, p = 0.010). The mean values of 25(OH) D (ng/mL) were lower in girls (12.15 ± 6.60) than in boys (16.48 ± 8.69) (p < 0.05) and in children with hypertension (11.92 ± 5.48) than in those without (14.50 ± 8.24) (p < 0.05). Conclusions: Vitamin D defi ciency is observed more frequently than expected in obese children and adolescents. Our fi ndings indicate that low 25(OH) D levels are associated with insulin resistance. Vitamin D defi ciency could contribute to the morbidities associated with childhood obesity, such as insulin resistance or diabetes mellitus, increased cardiovascular/cardiometabolic risks, atherogenic dyslipidemia, and hypertension.
Objective: Diagnosis of sleep disorders (SD) and restless legs syndrome (RLS) in school-age pedia... more Objective: Diagnosis of sleep disorders (SD) and restless legs syndrome (RLS) in school-age pediatric population and finding their relevant factors are important to prevent disease dependent complications such as growth-development retardation, loss of neurocognitive function and school failure. The aim of the present study was to determine whether there is a relationship between socio-demographic characteristics, SD and RLS in school children. Materials and Methods: Middle and high school students aged between 13 and 17 were questioned about socio-demographic data, RLS survey and pediatric sleep questionnaire (PSQ). The study included 3.568 appropriately completed surveys. The total PSQ score was 4.3±3.3 for female students and 3.9±3.3 for male students. PSQ score was ≥8 in 326 of 1.992 female students (16.4%), in 215 of 1.576 male students (13.6%) and in 541 of all students (15.2%). The RLS frequency was 4.4% for all students, 4.6% for female students and 4.1% for male students. Total PSQ score, snoring, sleepiness and behavior subscale score had significant correlation with RLS in both genders. A weak but significant correlation was found between PSQ total score and BMI Z score (r=0.256, p<0.001). There was a strong correlation between PSQ score and RLS. The odds ratio of RLS was 2.04 (95% confidence interval: 1.87-2.22) for PSQ score. Conclusion: RLS has close relationships with sleep-related breathing disorders, daytime sleepiness and behavioral problems irrespective of socio-demographic data.
Hashimoto's thyroiditis (HT) was described many years ago, but the etiopathogenesis remains uncle... more Hashimoto's thyroiditis (HT) was described many years ago, but the etiopathogenesis remains unclear. Mannose-binding lectin (MBL) initiates complement activation in the lectin pathway. We determined MBL levels in children with HT and the associations thereof with thyroid hormone and thyroid autoantibody levels. Thirty-nine patients with HT and 41 controls were enrolled from the pediatric outpatient clinics. Subjects were grouped according to their thyroid functions: Euthyroid, marked hypothyroidism and clinical/subclinical hyperthyroidism. MBL levels were compared among these groups. Serum MBL levels of the subjects were determined using MBL Human ELISA kit. Serum MBL levels were studied in serum samples from the 80 subjects (48 (60.0%) females). MBL levels in HT and control groups were 50.787±34.718 and 50.593±44.28 ng/ml (p=0,983), respectively. In HT group, there was no significant difference in MBL levels between thyroid function groups (p=0.869). In addition, gender was not detected as a factor for serum MBL levels. Also we found negative correlation between WBC and serum MBL levels (r=-0.532; p=0.050). Otherwise there was no correlation between TSH, anti-TPO and anti-TG with serum MBL levels. CONCLUSION: MBL levels did not decrease in HT patients. Further research is needed to elucidate more fully any role for MBL in the development of autoimmune thyroid disease.
Aim: Immune thrombocytopenia (ITP) is the most common acquired bleeding disorder in childhood. Th... more Aim: Immune thrombocytopenia (ITP) is the most common acquired bleeding disorder in childhood. The study aimed to assess the demographic and clinical characteristics, and treatment responses and to evaluate their effects on chronicity in pediatric ITP cases. Material and Methods: Primary ITP patients aged 1 month to 18 years, who were diagnosed and followed up in the Pediatrics Clinic of Tokat Gaziosmanpaşa University Hospital between January 2010 and December 2018, were retrospectively analyzed. Results: Thirty-eight patients with a diagnosis of primary ITP were included in the study. The mean age of the patients was 94.3±53.4 (14-199) months. The female/male ratio was 1. Twenty (57.1%) patients had acute ITP, and 15 (42.9%) patients had chronic ITP. There was no significant difference between the acute ITP group and the chronic ITP group in demographic, clinical features, laboratory findings, and treatment responses. In the first 12 months, the number of admissions with a platelet...
Daha onceden saglikli olan 36 gunluk kiz hasta 20 gun sure ile 3 cay kasigi D vit 3 damla verilme... more Daha onceden saglikli olan 36 gunluk kiz hasta 20 gun sure ile 3 cay kasigi D vit 3 damla verilme sonrasi klinigimize getirildi. Onceki 20 gun icersinde gunde 12500 U(1 cay kasigi 1,25ml , 15ml=50000 IU=1,25 mg) toplamda 250000 IU vitamin D verilmisti. Laboratuvar testlerinde Serum Ca: 11,2 mg/dl (8,0- 10,2), 25(OH) VIT D : 112,2 ng/ml, PTH (Paratiroid hormon): 60,02 pg / ml (9- 65) bulundu. IV sivi tedavisi, furosemid, kalsiyum ve vitamin D den kisitli diyet ile tedavi edildi. 23 gun sonra serum vitamin D duzeyi guvenli duzeye indi. Vitamin D yagda cozunen bir vitamin oldugu icin etkileri aylar sonra sonlanabilir. Kalsiyum ve vitamin D den kisitli diyet tedavinin suresini kisaltabilir. Bu olgu sunumunda proflaksi amacli rutin ilac uygulamalarinda yanlis anlama ve ilac verilmesinin asiri dozda ilac alimina veya zehirlenmeye yol acabilecegi ve konvansiyonel uygun tedavi ile kisa surede olumlu cevap alinabilecegi vurgulanmistir.
In kidney diseases, renal damage may be mild and initially asymptomatic. Proteinuria, a marker of... more In kidney diseases, renal damage may be mild and initially asymptomatic. Proteinuria, a marker of kidney injury, directly contributes to chronic tubulointerstitial damage. We investigated the prevalence of proteinuria (POP) in school-aged children in Turkey. Materials and Methods: The cluster sampling method was used to calculate the required size of the study group for this cross-sectional study. Urine samples were randomly obtained to determine urinary protein/creatinine ratio (Upr/Ucr) from 1374 children aged 6 to 18 years. POP was also specifically assessed in hypertensive and obese children. Results: The mean age of the subjects was 11.68±3.43 years. The children were from rural (23.9%) and urban (76.1%) regions of Tokat, Turkey. Upr/Ucr ≥0.20 was detected in 92 children, corresponding to a POP rate of 6.7%, without any statistically significant difference between girls and boys. Among 141 obese children, 16 (11.3%) and 76 of 1233 non-obese children (6.2%) had proteinuria (p<0.05). Children with hypertension had a POP of 7.5% compared to the 6.7% of those without hypertension (p>0.05). Conclusion: Among school-aged Turkish children POP was 6.7%. POP was higher in obese than in non-obese children. But there was no association between POP and hypertension. While screening programs allow the early detection of renal disease, further cohort studies are required to be able to suggest urinary screening programs.
Kırım-Kongo kanamalı ateşi (KKKA), hemorajik belirtilerle hayatı tehdit eden viral bir zoonotik h... more Kırım-Kongo kanamalı ateşi (KKKA), hemorajik belirtilerle hayatı tehdit eden viral bir zoonotik hastalıktır. Bu çalışmanın amacı KKKA vakalarında hastalık şiddet skoruna trombosit sayısı (PLT) ve ortalama trombosit hacmi (mean platelet volume=MPV), ortalama trombosit kitlesi (mean platelet mass=MPM) gibi trombosit hacmi ve kitlesi ilgili indekslerin etkisini değerlendirmektir. Gereç ve Yöntem: 1 Aralık 2013-15 Ağustos 2016 tarihleri arasında Çocuk Yoğun Bakım Ünitesine kabul edilen 22 KKKA hastasından elde edilen veriler retrospektif olarak incelendi. Yaş, cinsiyet, biyokimyasal ve mikrobiyolojik veriler, trombosit sayısı ve MPV, MPM, hemorajik belirtiler ve mortalite durumu kaydedildi. Bulgular: Hastalık semptom skorlama indeksi gruplamasına göre Ağır CCHF'Lİ hastalarda Hafif KKKA'lı gruba kıyasla istatistiksel olarak MPV'de artma ve PLT'DE anlamlı bir azalma, anlamlı derecede daha yüksek aktive parsiyel tromboplastin zamanı (aPTT) gözlendi. MPM açısından hafif ve ağır KKKA grupları arasında anlamlı bir fark saptanmadı. Tartışma: KKKA'daki trombosit fonksiyonlarını çocuk yoğun bakım ünitesinde yatırılan hastalarda değerlendiren ilk çalışmadır. Trombosit fonksiyonları, PLT kadar hastaların semptom skorlama indeksine göre sınıflamada katkıda bulunabilir. Bu çalışma, başvurudaki MPV değerlerinin hastalık ciddiyetini öngörmede yararlı olabileceğini göstermektedir. Anahtar Kelimeler: Kırım-Kongo kanamalı ateşi, çocuk yoğun bakım, ortalama trombosit hacmi, hastalık şiddet skorlaması Objective: Crimean-Congo hemorrhagic fever (CCHF) is a life-threatening viral zoonotic disease with hemorrhagic symptoms. The aim of this study was to evaluate the effect of platelet volume and mass related indexes such as platelet count (PLT) and mean platelet volume (MPV) and mean platelet mass (MPM) on disease severity score in CCHF cases. Material and Method: Data from 22 patients admitted to the pediatric intensive care unit between 1 December 2013-15 August 2016, were retrospectively examined. Age, gender, biochemical and microbiological data, platelet count, MPV and MPM, hemorrhagic symptoms and mortality status were recorded. Results: statistically, an increase in MPV and a significant decrease in PLT and a significantly higher activated partial thromboplastin time (aPTT) were observed in patients with severe CCHF compared to the group with mild CCHF according to the disease symptom scoring index grouping. No significant difference was found between mild and severe CCHF groups in terms of MPM. Conclusion: This is the first study to evaluate platelet functions in CCHF in patients admitted to the pediatric intensive care unit. Platelet functions can contribute to classification according to the symptom scoring index of patients as well as PLT. This study suggests that MPV values in the admission may be useful in predicting disease severity.
Familial Mediterranean Fever (FMF) is an autoinflammatory and chronic disorder. Colchicine has be... more Familial Mediterranean Fever (FMF) is an autoinflammatory and chronic disorder. Colchicine has been prescribed to treat FMF since 1972. Balance is a complex function of the neuromuscular system. The aim of this study is to determine 1) if there is a connection between FMF and dynamic balance, 2) if colchicine use affects balance, and 3) if the disease severity score is related to a disruption in balance. Materials and Methods: The study examined 50 pediatric patients with FMF and 130 healthy age-and sex-matched children as control subjects. Dynamic postural stability was measured using the Biodex Stability System (BSS). Results: The stability indices were significantly higher in the FMF group than in the controls. There was no relationship between the FMF disease severity score and the three stability indices, while the colchicine dose was related to all three stability indices. Conclusion: By detecting any change in balance status early using a simple, safe, objective measurement of balance via the BSS in FMF patients, neuromyopathy could be identified earlier and unwanted outcomes prevented.
Background: Neonatal thrombocytopenia is a common hematological abnormality that occurs in 20-35%... more Background: Neonatal thrombocytopenia is a common hematological abnormality that occurs in 20-35% of all newborns in the neonatal intensive care unit. Platelet transfusion is the only known treatment; however, it is the critical point to identify neonates who are really at risk of bleeding and benefit from platelet transfusion as it also has various potential harmful effects. Aims: To investigate the prevalence and risk factors of neonatal thrombocytopenia and its relationship to intraventricular hemorrhage in the neonatal intensive care unit and to determine whether the use of platelet mass index-based criteria could reduce the rate of platelet transfusion. Study Design: Retrospective cohort study. Methods: This study was conducted in the neonatal intensive care unit of a tertiary university hospital. The medical records of neonates in the neonatal intensive care unit with platelet counts <150×10 9 /L between January 2013 and July 2016 were analyzed. Results: During the study period, 2,667 patients were admitted to the neonatal intensive care unit, and 395 (14%) had thrombocytopenia during hospitalization. The rate of intraventricular hemorrhage was 7.3%. Multiple logistic regression analysis showed that although lower platelet counts were associated with a higher intraventricular hemorrhage rate, the effects of respiratory distress syndrome, sepsis, and patent ductus arteriosus were more prominent than the degree of thrombocytopenia. Thirty patients (7%) received platelet transfusion, and these patients showed a significantly higher mortality rate than their non-platelet transfusion counterparts (p<0.001). In addition, it was found that the use of platelet mass index-based criteria for platelet transfusion in our patients would reduce the rate of platelet transfusion by 9.5% (2/21). Conclusion: Neonatal thrombocytopenia is usually mild and often resolves without treatment. As platelet transfusion is associated with an increased mortality rate, its risks and benefits should be weighed carefully. The use of platelet mass index-based criteria may reduce platelet transfusion rates in the neonatal intensive care unit, but additional data from prospective studies are required.
An accidental ingestion of a foreign body is a common cause of presentation to the emergency depa... more An accidental ingestion of a foreign body is a common cause of presentation to the emergency department. While the majority of the ingested foreign bodies pass through the gastrointestinal tract without causing any sequels, long, rigid, and sharp objects can cause complications such as perforations or obstructions. Serious health problems such as substance dependence, schizophrenia, or anorexia should be questioned in these rarely observed cases. Such objects need to be removed surgically or endoscopically as soon as possible. Our paper presents the removal of an impacted table fork from the stomach by endoscopy under sedoanalgesia three days after the incident.
A lthough life-saving benefits have been shown for intensive medical care, recent advances may ex... more A lthough life-saving benefits have been shown for intensive medical care, recent advances may expose critically ill patients to both infectious and noninfectious complications. Neonates represent a unique and highly vulnerable patient population because of their immunologic immaturity and altered cutaneous barriers. Thus, newborns in neonatal intensive care units (NICUs) are at high risk for developing nosocomial infections (NIs), which results in increased risk for morbidity and mortality [1]. Neonatal risk factors that have been shown to contribute to neonatal sepsis are prematurity, low birth weight, asphyxia, congenital anomalies, exposure to invasive procedures, and prolonged stays in the NICU [2, 3].
Okul çocuklarında inmemiş testis ve enürezis prevalansı: Prospektif epidemiyolojik kesitsel bölge... more Okul çocuklarında inmemiş testis ve enürezis prevalansı: Prospektif epidemiyolojik kesitsel bölgesel çalışma Prevalence of undescended testis and enuresis in school-aged children: Prospective epidemiological cross-sectional regional study Amaç: İnmemiş testis ve enürezis, çocukluk çağında sık rastlanan sağlık sorunları olup zamanında tanı ve tedavilerinin yapılması gelecekteki komplikasyonların önlenmesi açısından büyük öneme sahiptir. Biz de bu çalışmada inmemiş testis ve enürezise dikkat çekerek okul çocuklarındaki prevalanslarını belirlemeyi amaçladık. Gereç ve Yöntem: Bu kesitsel epidemiyolojik çalışma Tokat il merkezi ve ilçelerindeki ilkokul ve orta öğretim okullarındaki erkek çocuklarda yapıldı. Dış genital muayeneleri inmemiş testis için yapıldı ve enürezis sorgulandı. Çocukların antropometrik ölçümleri, ailede sigara ve alkol kullanımı sorgulandı ve inmemiş testis ve enürezisle ilişkileri araştırıldı. Çalışmaya alınan çocuklar yaşa göre 6-9, 10-14 ve 15-18 şeklinde üç gruba ayrıldı. Bulgular: Toplam 6 ile 18 yaşları arasındaki 613 erkek okul çocuğu çalışmaya dahil edildi. İnmemiş testis 8 (%1,3), enürezis ise 116 (%18,9) çocukta saptandı. Annelerde sigara kullanımı oranı %17,9 iken babalarda %80 tespit edildi. Çocukların evinde %44,9 oranında sigara içilmekteydi. Evinde sigara içilenlerde inmemiş testis prevalansı %2,2 iken içilmeyenlerde bu oran %0,6 saptandı (p=0,085). Evinde sigara içilenlerde enürezis prevalansı %26,2 iken içilmeyenlerde bu oran %13 hesaplandı (p<0,001). Ayrıca 6-9 yaş arası çocuklarda enürezis prevalansı %61,8 ile diğer yaş gruplarından yüksekti (p<0,001). Sonuç: Tanı almamış inmemiş testise okul çağı çocuklarında halen rastlanmaktadır. Geç kalınmasının malignensi ve infertilite gibi ciddi sonuçları olmasından koruyucu hekimlikte ciddiye alınması için çalışmalar yürütülmelidir. Enürezis erkeklerde sıkça rastlanmakta ve psikososyal gelişim ve akademik başarıdaki olumsuz etkilerinin önlenmesi için ailelerin tıbbi yardım almaları üstünde durulmalıdır. Evde sigara içilmesi erkek çocuklarda enürezis sıklığını arttırabilir. Anahtar Sözcükler: Alkol; enürezis; inmemiş testis; okul çocukları; sigara. Introduction: Undescended testis and enuresis are frequently seen and important health problem for children and their families. They could lead to serious complications in advanced aged children. In this study, we aimed to determine the prevalence of undescended testis and enuresis in school-aged boys. Methods: This cross-sectional epidemiological study was performed with boys in the province and districts of Tokat province. External genital examinations were performed for undescended testis and enuresis was asked. Anthropometric measurements of children, smoking and alcohol dinking in the family were questioned and that's relationships with undescended testis and enuresis were investigated. Children were divided into three groups as 6-9, 10-14 and 15-18 ages. Results: A total of 613 male school-aged children between 6 and 18 years aged were included in the study. Undescended testis was detected in 8 (1.3%) and enuresis in 116 (18.9%) children. The rate of smoking in mothers was 17.9% and 80% in fathers. The rate of smoking in home was 44.9%. The prevalence of undescended testis was found to be 2.2% in children of smoked home and 0.6% in children of non-smoked home (p=0.085). The prevalence of enuresis was 26.2% in children of smoked home and 13% in children of non-smoked home (p<0.001). In addition, the prevalence of enuresis in children aged 6 to 9 years was 61.8%, and was higher than other age groups (p<0.001). Discussion and Conclusion: Undiagnosed undescended testes are still present in school-aged children. Since the delay of diagnosis may cause serious consequences such as malignancy and infertility, extra efforts should be made to be taken into account in preventive medicine. Enuresis is frequently encountered in school-aged boys. In order to prevent the its negative effects on psychosocial development and academic success, it should be emphasized that their families should receive medical support. Smoking at home by parents may increase the frequency of enuresis in school-aged boys.
Giriş: Zehirlenmeler çocukluk çağı acil hastalıklar arasında morbidite ve mortalitenin önlenebili... more Giriş: Zehirlenmeler çocukluk çağı acil hastalıklar arasında morbidite ve mortalitenin önlenebilir nedenleri arasında yer alır. Bu çalışmada Tokat ili ve çevresinde görülen çocukluk çağı zehirlenmelerinin epidemiyolojik özelliklerini belirlemeyi amaçladık. Yöntemler: Gaziosmanpaşa Üniversitesi Tıp Fakültesi çocuk yoğun bakım ünitesine 01/02/2014 ile 30/06/2016 tarihleri arasında yatan 148 zehirlenme olgusu geriye dönük olarak değerlendirildi. Bulgular: Çocuk Yoğun Bakım Ünitesinde yatırılarak izlenen olguların %50.3'ü kız, %49.7'i erkek idi. Zehirlenmelerin en sık görüldüğü yaş grubu 2-5 yaş olup (%40,1), bu dönemde en sık görülen zehirlenme etkeni ise farmakolojik ajanlardı. Zehirlenme etkenlerinin %74.8'i farmakolojik ajanlardı. Zehirlenme olgularının 45'i (%30,6) intihar amaçlı, 88'i (% 59.9) kaza sonucu meydana gelmişti. Mevsime göre dağılımda hastaların %25.2'i sonbahar, %22.4'i yaz ,%17.7'si kış, %34.7'si ilkbaharda başvurmuştu. Çalışmanın yapıldığı dönemde uygun takip ve destek tedavisi ile olguların hiçbirinde ölüm gözlenmedi. Sonuç: Bölgemizin zehirlenme profilinin belirlenmesinin, koruyucu önlemlerin alınmasına katkısı olabileceğini ve eğitim ile zehirlenme oranlarının düşürülebileceğini düşünmekteyiz.
Background and Aim Acute bronchiolitis is the most common cause of hospitalization in the first y... more Background and Aim Acute bronchiolitis is the most common cause of hospitalization in the first year of life. The neutrophil/lymphocyte ratio (NLR) and mean platelet volume (MPV) are readily calculable laboratory markers used to evaluate systemic inflammation. We aim to evaluate the optimal values of these markers for the prediction of severity and hospitalization in infants with acute bronchiolitis. Materials and Methods A total of 105 patients with acute bronchiolitis and 62 healthy controls aged 1 to 12 months were prospectively enrolled to the study. The patients' group was classified into two groups, namely, outpatient and inpatient, also divided into three groups according to clinical scoring: mild, moderate, and severe. The association of NLR and MPV with clinical severity and hospitalization was investigated. Results The mean age was 7.75 ± 2.98 months in patients and 7.69 ± 2.87 months in controls. The means of NLR were 0.47 and 0.64 in controls and patients, respective...
Genetic testing and molecular biomarkers, Jan 13, 2017
Obesity, one of the most common disorders observed in clinical practice, has been associated with... more Obesity, one of the most common disorders observed in clinical practice, has been associated with energy metabolism-related protein genes such as uncoupling proteins (UCPs). Herein, we evaluated UCPs as candidate genes for obesity and its morbidities. A total of 268 obese and 185 nonobese children and adolescents were enrolled in this study. To determine dyslipidemia, hypertension, and insulin resistance, laboratory tests were derived from fasting blood samples. UCP1-3826 A/G, UCP2 exon 8 deletion/insertion (del/ins), and UCP3-55C/T variants were also genotyped, and the relationship between the polymorphisms of these UCPs and obesity morbidities was investigated. The mean ages of the obese and control groups were 11.61 ± 2.83 and 10.74 ± 3.36 years, respectively. The respective genotypic frequencies of the AA, AG, and GG genotypes of UCP1 were 46.3%, 33.2%, and 20.5% in obese subjects and 46.5%, 42.2%, and 11.4% in the controls (p = 0.020). G alleles were more frequent in obese subj...
ÖZET Giriş ve Amaç: İdyopatik Hiperkalsiüri (İHK) çocuklarda sık görülen bir metabolik bozukluktu... more ÖZET Giriş ve Amaç: İdyopatik Hiperkalsiüri (İHK) çocuklarda sık görülen bir metabolik bozukluktur. Hematuri, dizüri, enürezis, kolik ve büyüme geriliği gibi semptomlara sebep olur ve genellikle ürolitiazisle sonuçlanır. İHK klinik belirtileri ve sıklığına dikkat çekmek amacıyla bu çalışma yapıldı. Yöntem: Polikliniğe başvuran 4-15 yaş arası 223 çocukta spot idrarda kalsium, kreatinin, sodyum, potasyum incelendi. İdrarda kalsiyum kreatinin oranı (İka/İkr) hesaplandı, 0.20 ve üzeri hiperkalsiüri olarak kabul edildi. Hastaların şikayetleri kaydedildi. Bulgular: 4-15 yaş arası 223 hastanın 124 (%55.6)'ü kız, 99 (%44.4)'u erkekti. Yaş ortalaması ise 8.7 ±3,1'di. 223 hastanın 32 (%14.3)'sinde İka/İkr 0.20'in üzerindeydi. Erkeklerdeki prevalans %18.2 iken kızlarda %11.3'tü. 223 hastanın 92(%41.3)'sinde idrar semptomu vardı. İdrar semptomu olan 92 hastanın 25(%27.2)'inde hiperkalsiüri tespit edildi. Hiperkalsiürili 25 (%78.1) hasta semptomatikti, en sık rastlanan semptom %68.8 (22 hasta) ile karın ağrısıydı. İHK olmayan 191 hastanın 47(%24.6)'inde karın ağrısı varken, İHK olan 32 hastanın 22 (%68,8)'sinde karın ağrısı vardı. Hiperkalsiürili olan vakalarda karın ağrısı görülme sıklığı daha fazlaydı (p<0,001). İHK olanlarda sodyumun kreatinine oran ortalaması 3,71±3,62'di. Diğer grupta ise sodyumun kreatinine oran ortalaması 1,70±1,28'di. İHK olan vakalarda sodyum atılımı daha fazlaydı (p<0,001). Sonuç: İHK ürolitiazis için en önemli risk faktörü olmasından, özellikle üriner sistem semptomları olan çocuklarda idrarda İka/İkr gibi invazif olmayan bir tetkikle taranmalı ve tedavisinde başlangıçta sodyumdan fakir potasyumdan zengin diyet denenebilir.
Backgrounds: B3 adrenoreceptors (ADRB3) are abundant in adipose tissue and play the role in its m... more Backgrounds: B3 adrenoreceptors (ADRB3) are abundant in adipose tissue and play the role in its metabolism and lipolysis. Some variants of the ADRB3 gene may predispose subjects for the development obesity and metabolic abnormalities in the setting of modern sedentary lifestyle. ADRB3 gene polymorphism association with metabolic disturbances has never been studied before in the ethnic Kyrgyz population. Aim: To study an association between Trp64Arg polymorphism of the ADRB3 and metabolic syndrome (MS) components in an ethnic Kyrgyz group. Materials and methods: 213 Ethnic Kyrgyz volunteers over the age of 30 were enrolled in the study. The assessment plan for each individual comprised of general physical and anthropometric exams as well as laboratory tests (glucose, lipid panel, insulin) and genotyping by Trp64Arg polymorphism of the ADRB3. MS diagnosis was consistent with modified ATP III criteria (2005). Logistic regression analysis was performed to test the potential independent association between Arg64 allele with obesity, abdominal obesity (AO) and arterial hypertension (AH). Results: Trp64Arg polymorphism of the ADRB3 was assessed in 213 individuals (145 men, 68 women) aged 30-73 (mean age 50.7 ± 7.6). Arg64 allele frequency was 0.239; ADRB3 genotype distribution among participants was: Trp64 homozygotes 54.5%, Trp64Arg 43.2% and Arg64 homozygotes 2.3%. There was an association between Trp64Arg и Arg64Arg genotypes and higher BMI, WC and obesity frequency (p < 0.00009), AO (p < 0.01), type 2 diabetes mellitus (DM) (p < 0.005) and lower high density cholesterol (HDL-C) level (p < 0.03). The logistic regression analysis showed the correlation of the Arg64 allele with obesity (OR 3.159; 95% CI 1.789-5.577) and AO (OR 1.973; 95% CI 1.118-3.481). The association between Arg64 allele and AH lost its significance after adjustment for obesity. Conclusion: Arg64 allele of the ADRB3 gene in the studied group has an association with MS components such as obesity, AO and decreased HDL-C level.
Uploads
Books by Ali Gul
(LRT) RSV infections were investigated for genetically susceptibility(1). We aimed to determine the association of surfactant B and
D gene polymorphisms with acute bronchiolitis in infants younger than 1 year of age.
Materials and Methods: One hundred and six patients diagnosed with acute bronchiolitis and 107 healthy children from outpatient
of pediatric polyclinics of Gaziosmanpasa University hospital between January 2015 and January 2016 were enrolled to the study.
Acute bronchiolitis was diagnosed with clinical symptoms and findings (2). Blood samples were collected from each subject, and
DNA was extracted from peripheral blood samples using a GeneAll® ExgeneTM Blood SV Genomic DNA Kit according to the
manufacturer‘s instructions. SP-B intron 4 and C/A-18 gene polymorphisms were analyzed by a polymerase chain reaction (PCR)-
based restriction fragment length polymorphism (RFLP) method.
Results and Discussion: A total of 106 infants with acute bronchiolitis were enrolled in this study and another 107 infants without
bronchiolitis were recruited for the control group. Forty-five (42.5%) of 106 patients diagnosed with bronchiolitis in the study were
female. In bronchiolitis patient group, ten infants were 1–3 months, and 96 were 3–12 months of age. The respective genotype
frequencies of the inv/inv, inv/(ins/del), ins/ins, and del/del genotypes of SP-B intron 4 were 93.3%, 4.7%, 0.9% and 0.9% in acute
bronchiolitis subjects and 84.1%, 15.8%, 0% and 0% in controls (p = .0111). SP-B C/A-18 polymorphisms did not influence the risk
of acute bronchiolitis (p > 0.05). The genotype frequencies of the CC, CA, and AA genotypes of SP-B C/A-18 were 22.1%, 48.0,
and 29.8% in acute bronchiolitis infants and 17.4%, 53.3%, and 29.1% in controls, respectively (p=0.6428). The allelic frequency of
the C allele and A allele were 46.3% in acute bronchiolitis subjects and 32.4% in controls (p = 0.3440).
There is a possible association between the SP-B gene and susceptibility to acute bronchiolitis infection. We did not be able to find
any research about SP-B and acute bronchiolitis. But, the A-allele of SP-C gene is suggested to associate with reduced pulmonary
function and may predispose to lower respiratory disease (3). Some variant of SP-B gene has been variably associated with increased
risk for ARDS, COPD, and newborn RDS, as well (4). Also, there was suggested that the SP-B gene variants may increase the
incidence or severity of disease in genetically vulnerable individuals. (5). The carriers of inv/inv homozygous genotype may have an
increased risk for acute bronchiolitis disease in comparison with carriers of inv/(ins/inv) heterozygote genotype.
ABSTRACT Objective: Idiopathic hypercalciuria (IHC) is very frequently seen metabolic disorder in children and causes to some symptoms as hematuria, disuria, enuresis, cholic pain and growth retardation. IHC is generally ended with urolithiasis. In this research , we aim to notice frequency and clinically importance of hypercalciuria. Method: In pediatric polyclinic, 4 to 15 year old children detected for hypercalciuria by calcium, creatinine, sodium and potasium measuring in spot urine samples. we calculated the urine calcium creatinine ratio (Uca/Ucr) and 0,20 and above accepted hypercalciuria (3). Urinary tract symptoms were recorded. Results: We studied 223 children in our pediatric polyclinic with an age range of 4 to 15 years (mean= 8.7 ±3,18.7 ±3,1). 124 (%55.6) chidren were female and 99 (%44.4) were male. In study group, we found urine calcium creatinine ratio 0,20 and above in 32 (%14.3). The prevalence was %18.2 in males and in females was %11.3. 92(%41.3) children were have urinary system symptoms and hypercaluria was found in 25(%27.2) from these 92 symptomatic children. Of all hypercalciuric 32 children, 25(%78.1) children were symptomatic and the most frequently symptoms was abdominal pain with %68.8 frequency (22 children). However in nonhypercaiuric 191 children abdominal pain was found 47(%24.6) children, from hypercalciuric children 22(%68,8) patients had abdominal pain (p<0,001). The mean sodium creatinine ratio, in hypercalciuric children was 3,71±3,62 and in nonhypercaiuric was 1,70±1,28 (p<0,001). Conclusions: Because of the IHC frequently ended in urolithiasis, especially in urinary tract sympomatic children Uca/Ucr should be studied that is not invasive test and patients with IHC can be treated firstly with sodium restricted and potasium richly diets. Key words: Idiopathic hypercalciuria, urine calcium creatinine ratio, urinary tract symptoms, urinary excretion of sodium.
Papers by Ali Gul
(LRT) RSV infections were investigated for genetically susceptibility(1). We aimed to determine the association of surfactant B and
D gene polymorphisms with acute bronchiolitis in infants younger than 1 year of age.
Materials and Methods: One hundred and six patients diagnosed with acute bronchiolitis and 107 healthy children from outpatient
of pediatric polyclinics of Gaziosmanpasa University hospital between January 2015 and January 2016 were enrolled to the study.
Acute bronchiolitis was diagnosed with clinical symptoms and findings (2). Blood samples were collected from each subject, and
DNA was extracted from peripheral blood samples using a GeneAll® ExgeneTM Blood SV Genomic DNA Kit according to the
manufacturer‘s instructions. SP-B intron 4 and C/A-18 gene polymorphisms were analyzed by a polymerase chain reaction (PCR)-
based restriction fragment length polymorphism (RFLP) method.
Results and Discussion: A total of 106 infants with acute bronchiolitis were enrolled in this study and another 107 infants without
bronchiolitis were recruited for the control group. Forty-five (42.5%) of 106 patients diagnosed with bronchiolitis in the study were
female. In bronchiolitis patient group, ten infants were 1–3 months, and 96 were 3–12 months of age. The respective genotype
frequencies of the inv/inv, inv/(ins/del), ins/ins, and del/del genotypes of SP-B intron 4 were 93.3%, 4.7%, 0.9% and 0.9% in acute
bronchiolitis subjects and 84.1%, 15.8%, 0% and 0% in controls (p = .0111). SP-B C/A-18 polymorphisms did not influence the risk
of acute bronchiolitis (p > 0.05). The genotype frequencies of the CC, CA, and AA genotypes of SP-B C/A-18 were 22.1%, 48.0,
and 29.8% in acute bronchiolitis infants and 17.4%, 53.3%, and 29.1% in controls, respectively (p=0.6428). The allelic frequency of
the C allele and A allele were 46.3% in acute bronchiolitis subjects and 32.4% in controls (p = 0.3440).
There is a possible association between the SP-B gene and susceptibility to acute bronchiolitis infection. We did not be able to find
any research about SP-B and acute bronchiolitis. But, the A-allele of SP-C gene is suggested to associate with reduced pulmonary
function and may predispose to lower respiratory disease (3). Some variant of SP-B gene has been variably associated with increased
risk for ARDS, COPD, and newborn RDS, as well (4). Also, there was suggested that the SP-B gene variants may increase the
incidence or severity of disease in genetically vulnerable individuals. (5). The carriers of inv/inv homozygous genotype may have an
increased risk for acute bronchiolitis disease in comparison with carriers of inv/(ins/inv) heterozygote genotype.
ABSTRACT Objective: Idiopathic hypercalciuria (IHC) is very frequently seen metabolic disorder in children and causes to some symptoms as hematuria, disuria, enuresis, cholic pain and growth retardation. IHC is generally ended with urolithiasis. In this research , we aim to notice frequency and clinically importance of hypercalciuria. Method: In pediatric polyclinic, 4 to 15 year old children detected for hypercalciuria by calcium, creatinine, sodium and potasium measuring in spot urine samples. we calculated the urine calcium creatinine ratio (Uca/Ucr) and 0,20 and above accepted hypercalciuria (3). Urinary tract symptoms were recorded. Results: We studied 223 children in our pediatric polyclinic with an age range of 4 to 15 years (mean= 8.7 ±3,18.7 ±3,1). 124 (%55.6) chidren were female and 99 (%44.4) were male. In study group, we found urine calcium creatinine ratio 0,20 and above in 32 (%14.3). The prevalence was %18.2 in males and in females was %11.3. 92(%41.3) children were have urinary system symptoms and hypercaluria was found in 25(%27.2) from these 92 symptomatic children. Of all hypercalciuric 32 children, 25(%78.1) children were symptomatic and the most frequently symptoms was abdominal pain with %68.8 frequency (22 children). However in nonhypercaiuric 191 children abdominal pain was found 47(%24.6) children, from hypercalciuric children 22(%68,8) patients had abdominal pain (p<0,001). The mean sodium creatinine ratio, in hypercalciuric children was 3,71±3,62 and in nonhypercaiuric was 1,70±1,28 (p<0,001). Conclusions: Because of the IHC frequently ended in urolithiasis, especially in urinary tract sympomatic children Uca/Ucr should be studied that is not invasive test and patients with IHC can be treated firstly with sodium restricted and potasium richly diets. Key words: Idiopathic hypercalciuria, urine calcium creatinine ratio, urinary tract symptoms, urinary excretion of sodium.