Objective To study the identification of the cause of specific sperm abnormatities. Methods Two adult men with specific alterations in sperm morphology causing 100% immobility were included in this study. The study of...Objective To study the identification of the cause of specific sperm abnormatities. Methods Two adult men with specific alterations in sperm morphology causing 100% immobility were included in this study. The study of sperm used： transmission electron microscopy （both patients）; apoptotic markers, DNA fragmentation test and fluorescence in-situ hybridization （patient 1） and immunoeytochemistry study of sperm flagellum using anti-β tubulin antibodies and ciliary activity test （patient 2）.Results Increased DNA fragmentation （52.6%） and apoptosis biomarkers were detected in patient 1, and loss of the central pair of mierotubules in patient 2 （‘9＋0＇ axoneme）; the nasal ciliary activity was normal. Conclusion Results suggest an apoptotic origin of the abnormalities in the sperm from patient 1 and dysplasia of the fibrous sheath in patient 2.展开更多
Objective To investigate whether sperm immotility was caused by degeneration in the epididymis Methods Five patients with totally immotile sperm were selected in this study. Testicular biopsy was used to obtain tes...Objective To investigate whether sperm immotility was caused by degeneration in the epididymis Methods Five patients with totally immotile sperm were selected in this study. Testicular biopsy was used to obtain testicular sperm to evaluate sperm motility. The combined hypoosmotic swelling eosin Y exclusion test was carried out to determine the sperm head and tail membrane integrity for the ejaculated and the testicular sperm. The ultrastructure of ejaculated sperm was examined by transmission electron microscope. Results No motile sperm were found in the ejaculated semen samples from 5 patients, whereas 2% to 11% motile testicular sperm extracted from the testicular biopsy tissues were observed. The percentage of testicular sperm with intact head and tail membranes was higher than that of the ejaculated sperm (P<0.01). Ultrastructure of the ejaculated sperm showed marked degenerative features. Seminal plasma from patients did not influence the motility of normal donor sperm. Conclusion Sperm could undergo degenerative changes during transit through and /or storage in the epididymis, which led to lose sperm motility in these patients. Using motile testicular sperm would benefit the treatment for such cases.展开更多
Objective To determine the membrane integrity in the head and tail regions of individual spermatozoon, and observe sperm morphology for samples with totally immotile sperm. Methods Ten infertile men with immotile sper...Objective To determine the membrane integrity in the head and tail regions of individual spermatozoon, and observe sperm morphology for samples with totally immotile sperm. Methods Ten infertile men with immotile sperm were enrolled into this study （group A）. The membrane integrity in the head and tail regions of individual spermatozoon of immotile sperm was examined by using the combined hypo-osmotic swelling-eosin Y exclusion test （HOS-EY test）. Sperm morphology was observed by light, scanning and transmission electron microscopy. Ten semen samples from normospermic donors were used as the control （group B）. Results The percentage of sperm with intact both head and tail membranes in group A was significantly lower than that in group B （P〈0.01）, whereas the value of sperm with defective head membrane but intact tail membrane in group A was significantly higher than that in group B （P〈0.01）. Abnormal sperm morphology in group A had a high incidence, and immotile sperm with viability and normal morphology could be observed in some cases. Most sperm had multiple ultrastructural defects. Conclussion Some immotile sperm had intact tail membrane but defective head membrane. Immotile sperm with viability and normal morphology could exist in some cases though abnormal sperm were in a great proportion. Carefully evaluating immotile sperm membrane integrity and morphology should benefit the treatment of patients with immotile sperm.展开更多
Numerous genes have been associated with multiple morphological abnormalities of the sperm flagella(MMAF),which cause severe asthenozoospermia and lead to male infertility,while the causes of approximately 50%of MMAF ...Numerous genes have been associated with multiple morphological abnormalities of the sperm flagella(MMAF),which cause severe asthenozoospermia and lead to male infertility,while the causes of approximately 50%of MMAF cases remain unclear.To reveal the genetic causes of MMAF in an infertile patient,whole-exome sequencing was performed to screen for pathogenic genes,and electron microscope was used to reveal the sperm flagellar ultrastructure.A novel heterozygous missense mutation in the outer dense fiber protein 2(ODF2)gene was detected,which was inherited from the patient’s mother and predicted to be potentially damaging.Transmission electron microscopy revealed that the outer dense fibers were defective in the patient’s sperm tail,which was similar to that of the reported heterozygous Odf2 mutation mouse.Immunostaining of ODF2 showed severe ODF2 expression defects in the patient’s sperm.Therefore,it was concluded that the heterozygous mutation in ODF2 caused MMAF in this case.To evaluate the possibility of assisted reproductive technology(ART)treatment for this patient,intracytoplasmic sperm injection(ICSI)was performed,with the help of a hypo-osmotic swelling test and laser-assisted immotile sperm selection(LAISS)for available sperm screening,and artificial oocyte activation with ionomycin was applied to improve the fertilization rate.Four ICSI cycles were performed,and live birth was achieved in the LAISS-applied cycle,suggesting that LAISS would be valuable in ART treatment for MMAF.展开更多
Although the triad of bronchiectasis, sinusitis and situs inversus was first described by Kartagener in 1933, the clinical spectrum of primary ciliary dyskinesia is still under investigation. Heterotaxy defects as wel...Although the triad of bronchiectasis, sinusitis and situs inversus was first described by Kartagener in 1933, the clinical spectrum of primary ciliary dyskinesia is still under investigation. Heterotaxy defects as well as upper and lower respiratory tract symptoms are the main manifestations in childhood. It is now recognized that situs inversus is encountered in only half of patients. The first lower respiratory symptoms may be present from infancy as neonatal respiratory distress. The most common lower airway manifestations are chronic wet cough, recurrent pneumonia and therapy resistant wheezing. Patients are at risk of developing bronchiectasis which may even be the presenting finding due to delayed diagnosis. Upper respiratory tract infections such as nasal congestion, nasal drainage and recurrent sinusitis as well as otologic manifestations such as otitis media or otorrhea with conductive hearing loss are also often encountered. It seems that the type of ciliary ultrastructure defects and the involved mutated genes are associated to some extent to the clinical profile. The disease, even in nowadays, is not recognized at an early age and the primary care clinician should have knowledge of its clinical spectrum in order to select appropriately the children who need further investigation for the diagnosis of this disorder.展开更多
文摘Objective To study the identification of the cause of specific sperm abnormatities. Methods Two adult men with specific alterations in sperm morphology causing 100% immobility were included in this study. The study of sperm used： transmission electron microscopy （both patients）; apoptotic markers, DNA fragmentation test and fluorescence in-situ hybridization （patient 1） and immunoeytochemistry study of sperm flagellum using anti-β tubulin antibodies and ciliary activity test （patient 2）.Results Increased DNA fragmentation （52.6%） and apoptosis biomarkers were detected in patient 1, and loss of the central pair of mierotubules in patient 2 （‘9＋0＇ axoneme）; the nasal ciliary activity was normal. Conclusion Results suggest an apoptotic origin of the abnormalities in the sperm from patient 1 and dysplasia of the fibrous sheath in patient 2.
基金the Natural Science Foundation of Guangdong Province( No. 980 70 1 ) P.R.China
文摘Objective To investigate whether sperm immotility was caused by degeneration in the epididymis Methods Five patients with totally immotile sperm were selected in this study. Testicular biopsy was used to obtain testicular sperm to evaluate sperm motility. The combined hypoosmotic swelling eosin Y exclusion test was carried out to determine the sperm head and tail membrane integrity for the ejaculated and the testicular sperm. The ultrastructure of ejaculated sperm was examined by transmission electron microscope. Results No motile sperm were found in the ejaculated semen samples from 5 patients, whereas 2% to 11% motile testicular sperm extracted from the testicular biopsy tissues were observed. The percentage of testicular sperm with intact head and tail membranes was higher than that of the ejaculated sperm (P<0.01). Ultrastructure of the ejaculated sperm showed marked degenerative features. Seminal plasma from patients did not influence the motility of normal donor sperm. Conclusion Sperm could undergo degenerative changes during transit through and /or storage in the epididymis, which led to lose sperm motility in these patients. Using motile testicular sperm would benefit the treatment for such cases.
基金This is a part of the project (No. 010399) supported by Natural Science Foundation of Guangdong Province,China.
文摘Objective To determine the membrane integrity in the head and tail regions of individual spermatozoon, and observe sperm morphology for samples with totally immotile sperm. Methods Ten infertile men with immotile sperm were enrolled into this study （group A）. The membrane integrity in the head and tail regions of individual spermatozoon of immotile sperm was examined by using the combined hypo-osmotic swelling-eosin Y exclusion test （HOS-EY test）. Sperm morphology was observed by light, scanning and transmission electron microscopy. Ten semen samples from normospermic donors were used as the control （group B）. Results The percentage of sperm with intact both head and tail membranes in group A was significantly lower than that in group B （P〈0.01）, whereas the value of sperm with defective head membrane but intact tail membrane in group A was significantly higher than that in group B （P〈0.01）. Abnormal sperm morphology in group A had a high incidence, and immotile sperm with viability and normal morphology could be observed in some cases. Most sperm had multiple ultrastructural defects. Conclussion Some immotile sperm had intact tail membrane but defective head membrane. Immotile sperm with viability and normal morphology could exist in some cases though abnormal sperm were in a great proportion. Carefully evaluating immotile sperm membrane integrity and morphology should benefit the treatment of patients with immotile sperm.
基金supported by grant from the National Key Research and Development Program of China(No.2017YFC1002003).
文摘Numerous genes have been associated with multiple morphological abnormalities of the sperm flagella(MMAF),which cause severe asthenozoospermia and lead to male infertility,while the causes of approximately 50%of MMAF cases remain unclear.To reveal the genetic causes of MMAF in an infertile patient,whole-exome sequencing was performed to screen for pathogenic genes,and electron microscope was used to reveal the sperm flagellar ultrastructure.A novel heterozygous missense mutation in the outer dense fiber protein 2(ODF2)gene was detected,which was inherited from the patient’s mother and predicted to be potentially damaging.Transmission electron microscopy revealed that the outer dense fibers were defective in the patient’s sperm tail,which was similar to that of the reported heterozygous Odf2 mutation mouse.Immunostaining of ODF2 showed severe ODF2 expression defects in the patient’s sperm.Therefore,it was concluded that the heterozygous mutation in ODF2 caused MMAF in this case.To evaluate the possibility of assisted reproductive technology(ART)treatment for this patient,intracytoplasmic sperm injection(ICSI)was performed,with the help of a hypo-osmotic swelling test and laser-assisted immotile sperm selection(LAISS)for available sperm screening,and artificial oocyte activation with ionomycin was applied to improve the fertilization rate.Four ICSI cycles were performed,and live birth was achieved in the LAISS-applied cycle,suggesting that LAISS would be valuable in ART treatment for MMAF.
文摘Although the triad of bronchiectasis, sinusitis and situs inversus was first described by Kartagener in 1933, the clinical spectrum of primary ciliary dyskinesia is still under investigation. Heterotaxy defects as well as upper and lower respiratory tract symptoms are the main manifestations in childhood. It is now recognized that situs inversus is encountered in only half of patients. The first lower respiratory symptoms may be present from infancy as neonatal respiratory distress. The most common lower airway manifestations are chronic wet cough, recurrent pneumonia and therapy resistant wheezing. Patients are at risk of developing bronchiectasis which may even be the presenting finding due to delayed diagnosis. Upper respiratory tract infections such as nasal congestion, nasal drainage and recurrent sinusitis as well as otologic manifestations such as otitis media or otorrhea with conductive hearing loss are also often encountered. It seems that the type of ciliary ultrastructure defects and the involved mutated genes are associated to some extent to the clinical profile. The disease, even in nowadays, is not recognized at an early age and the primary care clinician should have knowledge of its clinical spectrum in order to select appropriately the children who need further investigation for the diagnosis of this disorder.
