Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, Jan 6, 2015
International journal of immunopathology and pharmacology
Lichen planus is an uncommon inflammatory mucocutaneous disorder affecting the skin and its appen... more Lichen planus is an uncommon inflammatory mucocutaneous disorder affecting the skin and its appendages, as well as oral and genital mucosa. Involvement of the esophageal mucosa is rare and causes significant morbidity, with dysphagia and risk of long-term complications, such as esophageal strictures and stenosis. Esophageal lichen planus is an underreported condition in the spectrum of lichenoid tissue reactions, presenting the risk of systemic manifestations. We describe a patient with severe, long-standing esophageal lichen planus, which had led to marked weight-loss, malnutrition syndrome and chronic respiratory distress due to recurrent aspiration pneumonia. Diagnosis was confirmed by the presence of concomitant muco-cutaneous lesions and characteristic endoscopic and histological findings. Systemic therapy with cyclosporine A and micronutrient supplementation led to rapid clinical improvement. Early diagnosis of esophageal lichen planus as well as effective systemic immunosuppr...
Abstract: Aggressive-Growth Basal Cell Carcinoma (AG-BCC) defines a group of basal cell cancers t... more Abstract: Aggressive-Growth Basal Cell Carcinoma (AG-BCC) defines a group of basal cell cancers that are histologically and clinically aggressive. Since recent studies have demonstrated a high frequency of AG-BCCs among patients under 35 years of age we reviewed the pathologic findings of 964 patients (521 M, 433 F), aged 19-100 yo (Mean age: 61.6 yo), diagnosed with sporadic BCC in our hystopatologic laboratory from 1991 to 1995. Thirty-three of these patients (3.42%) were aged 19-35 years (mean age: 31.01 yo). There ...
Mucopolysaccharidosis (MPS) II, or Hunter syndrome, is a lysosomal storage disease characterized ... more Mucopolysaccharidosis (MPS) II, or Hunter syndrome, is a lysosomal storage disease characterized by multi-systemic involvement and a progressive clinical course. Enzyme replacement therapy with idursulfase has been approved in more than 50 countries worldwide; however, safety and efficacy data from clinical studies are currently only available for patients 1.4 years of age and older. Sibling case studies of infants with MPS I, II, and VI who initiated ERT in the first weeks or months of life have reported no new safety concerns and a more favorable clinical course for the sibling treated in infancy than for the later-treated sibling. Here we describe our experiences with a case series of eight MPS II patients for whom idursulfase treatment was initiated at under 1 year of age. The majority of the patients were diagnosed because of a family history of disease. All of the infants displayed abnormalities consistent with MPS II at diagnosis. The youngest age at treatment start was 10 days and the oldest was 6.5 months, with duration of treatment varying between 6 weeks and 5.5 years. No new safety concerns were observed, and none of the patients experienced an infusion-related reaction. All of the patients treated for more than 6 weeks showed
Background and aim: In healthy subjects, gut flora is primarily located in the colon and distal s... more Background and aim: In healthy subjects, gut flora is primarily located in the colon and distal small intestine, and its growth is controlled from intestinal motility, HCl, pepsin, biliar acids. Theoretical hypothesis and few data have suggested that inflammatory bowel disease, altered motility, intestinal surgery and chronic use of Proton Pump Inhibitors (PPI) may be associated with a small bowel bacterial overgrowth (SIBO). Our aim was to assess the prevalence of SIBO in patients in chronic PPI therapy (>1 year) in respect to a group of healthy subjects, by applying the hydrogen lactulose Breath Test (HLBT). Material and methods: 36 pts with Barrett's Esophagus (25 Males and 11 Females; mean age 61,0±12,8 years) in PPI therapy (mean time of PPI intake of 5,1±3 yrs), with or without GI symptoms (abdominal pain, bloating, altered bowel habits) were enrolled. All subjects underwent HLBT. Results of HLBT were considered abnormal in presence of either (i) two distinct peaks of two value H2>10 ppm above the basal value, or (ii) H2 production <90 min after lactulose ingestion. Results were compared with a control group of 31 healthy subjects (6 Male; 25 Female, mean age 45,2±9,8 years) Results: 52,8% of PPI users and 25,8% of the control subjects was found positive to HLBT, being the difference statistically significant (p<0,05). Conclusions: Our results suggest that SIBO is more prevalent in patients receiving chronic therapy with PPI than in the control group, Further studies considering a larger number of subjects are necessary to evaluate the correlation between PPI chronic therapy and SIBO.
Background and aim: In healthy subjects, gut flora is primarily located in the colon and distal s... more Background and aim: In healthy subjects, gut flora is primarily located in the colon and distal small intestine, and its growth is controlled from intestinal motility, HCl, pepsin, biliar acids. Theoretical hypothesis and few data have suggested that inflammatory bowel disease, altered motility, intestinal surgery and chronic use of Proton Pump Inhibitors (PPI) may be associated with a small bowel bacterial overgrowth (SIBO). Our aim was to assess the prevalence of SIBO in patients in chronic PPI therapy (>1 year) in respect to a group of healthy subjects, by applying the hydrogen lactulose Breath Test (HLBT). Material and methods: 36 pts with Barrett's Esophagus (25 Males and 11 Females; mean age 61,0±12,8 years) in PPI therapy (mean time of PPI intake of 5,1±3 yrs), with or without GI symptoms (abdominal pain, bloating, altered bowel habits) were enrolled. All subjects underwent HLBT. Results of HLBT were considered abnormal in presence of either (i) two distinct peaks of two value H2>10 ppm above the basal value, or (ii) H2 production <90 min after lactulose ingestion. Results were compared with a control group of 31 healthy subjects (6 Male; 25 Female, mean age 45,2±9,8 years) Results: 52,8% of PPI users and 25,8% of the control subjects was found positive to HLBT, being the difference statistically significant (p<0,05). Conclusions: Our results suggest that SIBO is more prevalent in patients receiving chronic therapy with PPI than in the control group, Further studies considering a larger number of subjects are necessary to evaluate the correlation between PPI chronic therapy and SIBO.
severe MPS I was made, ERT was started and the child was referred for HSCT evaluation. It was det... more severe MPS I was made, ERT was started and the child was referred for HSCT evaluation. It was determined that there might also be a maternal family history of Fragile X syndrome. EB, and his mother, were tested and the mother was found to be a carrier of a premutation allele (82 repeats) and EB was found to be mosaic for a premutation allele and a full mutation (107 and >200 repeats). Since Fragile X syndrome, even in a mosaic state, is expected to cause cognitive disability in males, it was determined that even if HSCT was performed, this child may see only minimal neurological benefit due to the underlying Fragile X syndrome. This abstract will discuss the ethical dilemmas presented by these results and how the dilemma was eventually resolved with emphasis on ethical principles.
Background: Myotonic dystrophy type 1 (MD1) is reported to be associated with internal malignanci... more Background: Myotonic dystrophy type 1 (MD1) is reported to be associated with internal malignancies. The association of myotonic dystrophy with cutaneous tumors is not fully understood.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, Jan 6, 2015
International journal of immunopathology and pharmacology
Lichen planus is an uncommon inflammatory mucocutaneous disorder affecting the skin and its appen... more Lichen planus is an uncommon inflammatory mucocutaneous disorder affecting the skin and its appendages, as well as oral and genital mucosa. Involvement of the esophageal mucosa is rare and causes significant morbidity, with dysphagia and risk of long-term complications, such as esophageal strictures and stenosis. Esophageal lichen planus is an underreported condition in the spectrum of lichenoid tissue reactions, presenting the risk of systemic manifestations. We describe a patient with severe, long-standing esophageal lichen planus, which had led to marked weight-loss, malnutrition syndrome and chronic respiratory distress due to recurrent aspiration pneumonia. Diagnosis was confirmed by the presence of concomitant muco-cutaneous lesions and characteristic endoscopic and histological findings. Systemic therapy with cyclosporine A and micronutrient supplementation led to rapid clinical improvement. Early diagnosis of esophageal lichen planus as well as effective systemic immunosuppr...
Abstract: Aggressive-Growth Basal Cell Carcinoma (AG-BCC) defines a group of basal cell cancers t... more Abstract: Aggressive-Growth Basal Cell Carcinoma (AG-BCC) defines a group of basal cell cancers that are histologically and clinically aggressive. Since recent studies have demonstrated a high frequency of AG-BCCs among patients under 35 years of age we reviewed the pathologic findings of 964 patients (521 M, 433 F), aged 19-100 yo (Mean age: 61.6 yo), diagnosed with sporadic BCC in our hystopatologic laboratory from 1991 to 1995. Thirty-three of these patients (3.42%) were aged 19-35 years (mean age: 31.01 yo). There ...
Mucopolysaccharidosis (MPS) II, or Hunter syndrome, is a lysosomal storage disease characterized ... more Mucopolysaccharidosis (MPS) II, or Hunter syndrome, is a lysosomal storage disease characterized by multi-systemic involvement and a progressive clinical course. Enzyme replacement therapy with idursulfase has been approved in more than 50 countries worldwide; however, safety and efficacy data from clinical studies are currently only available for patients 1.4 years of age and older. Sibling case studies of infants with MPS I, II, and VI who initiated ERT in the first weeks or months of life have reported no new safety concerns and a more favorable clinical course for the sibling treated in infancy than for the later-treated sibling. Here we describe our experiences with a case series of eight MPS II patients for whom idursulfase treatment was initiated at under 1 year of age. The majority of the patients were diagnosed because of a family history of disease. All of the infants displayed abnormalities consistent with MPS II at diagnosis. The youngest age at treatment start was 10 days and the oldest was 6.5 months, with duration of treatment varying between 6 weeks and 5.5 years. No new safety concerns were observed, and none of the patients experienced an infusion-related reaction. All of the patients treated for more than 6 weeks showed
Background and aim: In healthy subjects, gut flora is primarily located in the colon and distal s... more Background and aim: In healthy subjects, gut flora is primarily located in the colon and distal small intestine, and its growth is controlled from intestinal motility, HCl, pepsin, biliar acids. Theoretical hypothesis and few data have suggested that inflammatory bowel disease, altered motility, intestinal surgery and chronic use of Proton Pump Inhibitors (PPI) may be associated with a small bowel bacterial overgrowth (SIBO). Our aim was to assess the prevalence of SIBO in patients in chronic PPI therapy (>1 year) in respect to a group of healthy subjects, by applying the hydrogen lactulose Breath Test (HLBT). Material and methods: 36 pts with Barrett's Esophagus (25 Males and 11 Females; mean age 61,0±12,8 years) in PPI therapy (mean time of PPI intake of 5,1±3 yrs), with or without GI symptoms (abdominal pain, bloating, altered bowel habits) were enrolled. All subjects underwent HLBT. Results of HLBT were considered abnormal in presence of either (i) two distinct peaks of two value H2>10 ppm above the basal value, or (ii) H2 production <90 min after lactulose ingestion. Results were compared with a control group of 31 healthy subjects (6 Male; 25 Female, mean age 45,2±9,8 years) Results: 52,8% of PPI users and 25,8% of the control subjects was found positive to HLBT, being the difference statistically significant (p<0,05). Conclusions: Our results suggest that SIBO is more prevalent in patients receiving chronic therapy with PPI than in the control group, Further studies considering a larger number of subjects are necessary to evaluate the correlation between PPI chronic therapy and SIBO.
Background and aim: In healthy subjects, gut flora is primarily located in the colon and distal s... more Background and aim: In healthy subjects, gut flora is primarily located in the colon and distal small intestine, and its growth is controlled from intestinal motility, HCl, pepsin, biliar acids. Theoretical hypothesis and few data have suggested that inflammatory bowel disease, altered motility, intestinal surgery and chronic use of Proton Pump Inhibitors (PPI) may be associated with a small bowel bacterial overgrowth (SIBO). Our aim was to assess the prevalence of SIBO in patients in chronic PPI therapy (>1 year) in respect to a group of healthy subjects, by applying the hydrogen lactulose Breath Test (HLBT). Material and methods: 36 pts with Barrett's Esophagus (25 Males and 11 Females; mean age 61,0±12,8 years) in PPI therapy (mean time of PPI intake of 5,1±3 yrs), with or without GI symptoms (abdominal pain, bloating, altered bowel habits) were enrolled. All subjects underwent HLBT. Results of HLBT were considered abnormal in presence of either (i) two distinct peaks of two value H2>10 ppm above the basal value, or (ii) H2 production <90 min after lactulose ingestion. Results were compared with a control group of 31 healthy subjects (6 Male; 25 Female, mean age 45,2±9,8 years) Results: 52,8% of PPI users and 25,8% of the control subjects was found positive to HLBT, being the difference statistically significant (p<0,05). Conclusions: Our results suggest that SIBO is more prevalent in patients receiving chronic therapy with PPI than in the control group, Further studies considering a larger number of subjects are necessary to evaluate the correlation between PPI chronic therapy and SIBO.
severe MPS I was made, ERT was started and the child was referred for HSCT evaluation. It was det... more severe MPS I was made, ERT was started and the child was referred for HSCT evaluation. It was determined that there might also be a maternal family history of Fragile X syndrome. EB, and his mother, were tested and the mother was found to be a carrier of a premutation allele (82 repeats) and EB was found to be mosaic for a premutation allele and a full mutation (107 and >200 repeats). Since Fragile X syndrome, even in a mosaic state, is expected to cause cognitive disability in males, it was determined that even if HSCT was performed, this child may see only minimal neurological benefit due to the underlying Fragile X syndrome. This abstract will discuss the ethical dilemmas presented by these results and how the dilemma was eventually resolved with emphasis on ethical principles.
Background: Myotonic dystrophy type 1 (MD1) is reported to be associated with internal malignanci... more Background: Myotonic dystrophy type 1 (MD1) is reported to be associated with internal malignancies. The association of myotonic dystrophy with cutaneous tumors is not fully understood.
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