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A de novo reciprocal translocation 46,X,t(Y;1)(q12;q12) was found in an azoospermic male with meiotic arrest. Cytogenetics and fluorescent in situ hybridization (FISH) were used to define the karyotype, translocation breakpoints and homologue pairing. SRY (Yp), Yq11.2-AZF regions, DAZ gene copies and the distal Yq12 heterochromatin were studied by PCR and restriction analysis using sequence-tagged sites and single nucleotide variants. High resolution GTL, CBL and DA-DAPI staining revealed a (Y;1) translocation in all metaphases and a normal karyotype in the patient's father. FISH showed the presence of the distal Yq12 heterochromatic region in der(1) and loss of the heterochromatic region of chromosome 1. PCR demonstrated the intactness of the Y chromosome, including the SRY locus, AZF regions, DAZ genes and distal heterochromatin. A significant decrease (P 5 0.005) of Xp/Yp pairing (18.6%), as compared with controls (65.7%), was found in arrested primary spermatocytes, and cell culture and mRNA expression studies confirmed an irreversible arrest at meiosis I, with induction of apoptosis and removal of germ cells by Sertoli cells. We characterized a de novo t(Y;1)(q12;q12) balanced reciprocal translocation with loss of the heterochromatic region of chromosome 1, that caused unpairing of sex chromosomes followed by meiosis I arrest, apoptotic degeneration of germ cells and azoospermia.

BACKGROUND: There are no studies relating the apoptotic marker caspase-3 in human sperm to different degrees of abnormal sperm concentration, morphology and rapid progressive motility. METHODS: Semen from 67 males with abnormal semen analyses (n 5 61) and normozoospermia (n 5 6) were used. In each case, sperm from the neat semen (semen fraction) and after gradient centrifugation and swim-up (swim-up fraction) were incubated with a caspase-3 profluorogenic substrate. Caspase-3 activity was quantified in 119 850 sperm, 67 488 from semen and 52 362 from swim-up fractions. Logistic regression was used to estimate odds ratio (with 99% confidence intervals) for the presence of caspase-3-positive sperm. RESULTS: In semen fractions, no relationship was found between abnormal semen analysis subgroups and sperm caspase-3 activity. On the contrary, a significantly increased number of sperm with caspase-3 activity was found in the swim-up fractions from samples with poor sperm morphology. When analysis was restricted to single semen analysis defects, a significant increase of caspase-3-positive sperm was found in the semen fractions of cases with asthenozoospermia, and in the swim-up fractions of cases with teratozoospermia. CONCLUSIONS: Sperm caspase-3 activity seems to be associated with teratozoospermia and asthenozoospermia, thus suggesting that nuclear, mitochondrial and cytoskeletal abnormalities induce caspase-3 activation during spermiogenesis or sperm maturation.

A de novo reciprocal translocation 46,X,t(Y;1)(q12;q12) was found in an azoospermic male with meiotic arrest. Cytogenetics and fluorescent in situ hybridization (FISH) were used to define the karyotype, translocation breakpoints and homologue pairing. SRY (Yp), Yq11.2-AZF regions, DAZ gene copies and the distal Yq12 heterochromatin were studied by PCR and restriction analysis using sequence-tagged sites and single nucleotide variants. High resolution GTL, CBL and DA-DAPI staining revealed a (Y;1) translocation in all metaphases and a normal karyotype in the patient's father. FISH showed the presence of the distal Yq12 heterochromatic region in der(1) and loss of the heterochromatic region of chromosome 1. PCR demonstrated the intactness of the Y chromosome, including the SRY locus, AZF regions, DAZ genes and distal heterochromatin. A significant decrease (P 5 0.005) of Xp/Yp pairing (18.6%), as compared with controls (65.7%), was found in arrested primary spermatocytes, and cell culture and mRNA expression studies confirmed an irreversible arrest at meiosis I, with induction of apoptosis and removal of germ cells by Sertoli cells. We characterized a de novo t(Y;1)(q12;q12) balanced reciprocal translocation with loss of the heterochromatic region of chromosome 1, that caused unpairing of sex chromosomes followed by meiosis I arrest, apoptotic degeneration of germ cells and azoospermia.

BACKGROUND: There are no studies relating the apoptotic marker caspase-3 in human sperm to different degrees of abnormal sperm concentration, morphology and rapid progressive motility. METHODS: Semen from 67 males with abnormal semen analyses (n 5 61) and normozoospermia (n 5 6) were used. In each case, sperm from the neat semen (semen fraction) and after gradient centrifugation and swim-up (swim-up fraction) were incubated with a caspase-3 profluorogenic substrate. Caspase-3 activity was quantified in 119 850 sperm, 67 488 from semen and 52 362 from swim-up fractions. Logistic regression was used to estimate odds ratio (with 99% confidence intervals) for the presence of caspase-3-positive sperm. RESULTS: In semen fractions, no relationship was found between abnormal semen analysis subgroups and sperm caspase-3 activity. On the contrary, a significantly increased number of sperm with caspase-3 activity was found in the swim-up fractions from samples with poor sperm morphology. When analysis was restricted to single semen analysis defects, a significant increase of caspase-3-positive sperm was found in the semen fractions of cases with asthenozoospermia, and in the swim-up fractions of cases with teratozoospermia. CONCLUSIONS: Sperm caspase-3 activity seems to be associated with teratozoospermia and asthenozoospermia, thus suggesting that nuclear, mitochondrial and cytoskeletal abnormalities induce caspase-3 activation during spermiogenesis or sperm maturation.

A de novo reciprocal translocation 46,X,t(Y;1)(q12;q12) was found in an azoospermic male with meiotic arrest. Cytogenetics and fluorescent in situ hybridization (FISH) were used to define the karyotype, translocation breakpoints and homologue pairing. SRY (Yp), Yq11.2-AZF regions, DAZ gene copies and the distal Yq12 heterochromatin were studied by PCR and restriction analysis using sequence-tagged sites and single nucleotide variants. High resolution GTL, CBL and DA-DAPI staining revealed a (Y;1) translocation in all metaphases and a normal karyotype in the patient's father. FISH showed the presence of the distal Yq12 heterochromatic region in der(1) and loss of the heterochromatic region of chromosome 1. PCR demonstrated the intactness of the Y chromosome, including the SRY locus, AZF regions, DAZ genes and distal heterochromatin. A significant decrease (P 5 0.005) of Xp/Yp pairing (18.6%), as compared with controls (65.7%), was found in arrested primary spermatocytes, and cell culture and mRNA expression studies confirmed an irreversible arrest at meiosis I, with induction of apoptosis and removal of germ cells by Sertoli cells. We characterized a de novo t(Y;1)(q12;q12) balanced reciprocal translocation with loss of the heterochromatic region of chromosome 1, that caused unpairing of sex chromosomes followed by meiosis I arrest, apoptotic degeneration of germ cells and azoospermia.

BACKGROUND: There are no studies relating the apoptotic marker caspase-3 in human sperm to different degrees of abnormal sperm concentration, morphology and rapid progressive motility. METHODS: Semen from 67 males with abnormal semen analyses (n 5 61) and normozoospermia (n 5 6) were used. In each case, sperm from the neat semen (semen fraction) and after gradient centrifugation and swim-up (swim-up fraction) were incubated with a caspase-3 profluorogenic substrate. Caspase-3 activity was quantified in 119 850 sperm, 67 488 from semen and 52 362 from swim-up fractions. Logistic regression was used to estimate odds ratio (with 99% confidence intervals) for the presence of caspase-3-positive sperm. RESULTS: In semen fractions, no relationship was found between abnormal semen analysis subgroups and sperm caspase-3 activity. On the contrary, a significantly increased number of sperm with caspase-3 activity was found in the swim-up fractions from samples with poor sperm morphology. When analysis was restricted to single semen analysis defects, a significant increase of caspase-3-positive sperm was found in the semen fractions of cases with asthenozoospermia, and in the swim-up fractions of cases with teratozoospermia. CONCLUSIONS: Sperm caspase-3 activity seems to be associated with teratozoospermia and asthenozoospermia, thus suggesting that nuclear, mitochondrial and cytoskeletal abnormalities induce caspase-3 activation during spermiogenesis or sperm maturation.

El proceso de crear y mantener una congruencia estratégica entre las metas y las capacidades de la organización y sus oportunidades de marketing cambiantes. Implica definir una misión clara para la empresa, establecer objetivos de apoyo, diseñar una cartera de negocios sólida de coordinar estrategias funcionales.

Objecti6e: At present, ultrasonic aspiration is routinely used in several fields of surgery, especially in brain and spinal micro-surgery for tumour removal. In order to broaden the access to difficult surgical sites, it is important to design highly miniaturised but still efficient handpieces. The internal resonant system, always made of high-grade materials, must be optimally dimensioned. Normally this is done semi-empirically, by successively improving the design during many iterative test steps. This method however involves several additional difficulties when the degree of miniaturisation increases. For example, small transducer weights exacerbate heat-dissipation problems and make design optimisation important. Methods: To resolve these problems we have produced modelling software that makes it possible to simulate and automatically tune each individual interacting section of the design before it is actually manufactured, thereby assuring optimal efficiency. Results: Using a new mini-handpiece, designed via the software, two cases of dissection of acoustic neurinomas were successfully performed. Conclusion: Using conventional physical steps for improving ultrasonic aspiration handpieces, several problems arise when the grade of miniaturisation increases, due to increasing demands. We have designed computer software for handpiece simulation. Using this model it has been possible to manufacture a highly efficient miniaturised handpiece.

Zusammenfassung: Die weltweite Vernetzung der Unternehmen hat einen wesentlichen Einfluss auf unsere Arbeitswelt. Die Zusammenhänge sind für den Einzelnen kaum noch durchschaubar. In diesem Beitrag werden einige wesentliche Einflussparameter für die Zukunft der Arbeit beleuchtet. Konsequenzen für die Unternehmen und den Einzelnen werden aufgezeigt.