Objective:To analyze the clinical characteristics and genetic basis of a male patient with primary infertility caused by Acephalic spermatozoa syndrome.Methods:A patient who had presented at the Henan Provincial People′s Hospital on October 1, 2022 was selected as the study subject. Clinical data and results of laboratory exams and sperm electron microscopy were collected. The patient was subjected to whole exome sequencing (WES), and candidate variants were verified by Sanger sequencing and pathogenicity analysis.Results:WES revealed that the patient has harbored compound heterozygous variants of the PMFBP1 gene, namely c. 853del (p.Ala285Leufs*24) and c. 1276A>T (p.Lys426X), which were both unreported previously. Sanger sequencing suggested that the c. 853del (p.Ala285Leufs*24) variant has derived from his deceased mother, whilst the c. 1276A>T (p.Lys426X) variant has derived from his father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were classified as pathogenic (PVS1+ PM2_Supporting+ PP4). Conclusion:The compound heterozygous variants of the PMFBP1 gene probably underlay the Acephalic spermatozoa syndrome in this patient. The discovery of the novel variants has also enriched the mutational spectrum of Acephalic spermatozoa syndrome.

Objective:To explore the effect of different salt intake levels on clinical outcomes after the first embryo transfer in women undergoing assisted reproductive technology.Methods:This was a retrospective cohort study. A total of 163 patients with the first in vitro fertilization/intracytoplasmic sperm injection and embryo transfer from January 2021 to July 2021 in Reproductive Medical Center, Henan Provincial People's Hospital were recruited. The spot urine method was used to estimate the 24 h salt intake of patients, and all patients were divided into three groups based on their 25th and 75th percentiles: low-salt group (≤9.21 g, n=41), medium-salt group (9.22-13.31 g, n=81), and high-salt group (≥13.32 g, n=41). Baseline data and clinical outcomes were analyzed and compared among the three groups. Results:The rate of MII oocyte [72.7% (410/564)], and the rate of high-quality embryos [42.1% (109/259)] in the high-salt group were lower than those in the low-salt group [82.5% (461/559), P<0.05; 52.4% (154/294), P<0.05], the differences among the three groups were statistically significant ( P<0.001, P=0.048). The rate of normal cleavage [99.1% (568/573)] in the medium-salt group was higher than that in the low-salt group [96.1% (294/306), P<0.05], and the difference among the three groups was statistically significant ( P=0.003). After adjusting for potential confounding factors by using multivariate logistic regression, the clinical pregnancy rate ( OR=0.520, 95% CI: 0.221-1.221, P=0.133), the early miscarriage rate ( OR=1.226, 95% CI: 0.219-6.851, P=0.817), and the live birth rate ( OR=0.730, 95% CI: 0.323-1.647, P=0.448) in the medium-salt group, the clinical pregnancy rate ( OR=0.659, 95% CI: 0.246-1.762, P=0.406), the early miscarriage rate ( OR=1.080, 95% CI: 0.162-7.180, P=0.937), and the live birth rate ( OR=1.012, 95% CI: 0.396-2.588, P=0.980) in the high-salt group were comparable with the low-salt group (all P>0.05). Conclusion:High level of salt intake does not affect the clinical pregnancy outcomes of infertile women in their first transplantation cycle. However, it has an adverse effect on oocyte maturation, normal cleavage, and high-quality embryo formation.

Objective:To explore the effect of different salt intake levels on clinical outcomes after the first embryo transfer in women undergoing assisted reproductive technology.Methods:This was a retrospective cohort study. A total of 163 patients with the first in vitro fertilization/intracytoplasmic sperm injection and embryo transfer from January 2021 to July 2021 in Reproductive Medical Center, Henan Provincial People's Hospital were recruited. The spot urine method was used to estimate the 24 h salt intake of patients, and all patients were divided into three groups based on their 25th and 75th percentiles: low-salt group (≤9.21 g, n=41), medium-salt group (9.22-13.31 g, n=81), and high-salt group (≥13.32 g, n=41). Baseline data and clinical outcomes were analyzed and compared among the three groups. Results:The rate of MII oocyte [72.7% (410/564)], and the rate of high-quality embryos [42.1% (109/259)] in the high-salt group were lower than those in the low-salt group [82.5% (461/559), P<0.05; 52.4% (154/294), P<0.05], the differences among the three groups were statistically significant ( P<0.001, P=0.048). The rate of normal cleavage [99.1% (568/573)] in the medium-salt group was higher than that in the low-salt group [96.1% (294/306), P<0.05], and the difference among the three groups was statistically significant ( P=0.003). After adjusting for potential confounding factors by using multivariate logistic regression, the clinical pregnancy rate ( OR=0.520, 95% CI: 0.221-1.221, P=0.133), the early miscarriage rate ( OR=1.226, 95% CI: 0.219-6.851, P=0.817), and the live birth rate ( OR=0.730, 95% CI: 0.323-1.647, P=0.448) in the medium-salt group, the clinical pregnancy rate ( OR=0.659, 95% CI: 0.246-1.762, P=0.406), the early miscarriage rate ( OR=1.080, 95% CI: 0.162-7.180, P=0.937), and the live birth rate ( OR=1.012, 95% CI: 0.396-2.588, P=0.980) in the high-salt group were comparable with the low-salt group (all P>0.05). Conclusion:High level of salt intake does not affect the clinical pregnancy outcomes of infertile women in their first transplantation cycle. However, it has an adverse effect on oocyte maturation, normal cleavage, and high-quality embryo formation.

Objective:To investigate the clinical outcomes of infertility patients with multiple morphological abnormalities of the sperm flagella (MMAF) caused by DNAH1 gene mutation after intracytoplasmic sperm injection (ICSI). Methods:A retrospective cohort study analyzed the clinical data and genetic test results of 39 MMAF infertility patients who were treated in the Center for Reproductive Medicine of Henan Provincial People's Hospital from February 2018 to January 2020. Twelve MMAF patients caused by DNAH1 mutations were acted as DNAH1 positive group and 27 MMAF patients with no DNAH1 mutations were acted as DNAH1 negative group. Totally 100 cases of infertility patients with normal sperm morphology and their spouses who were age-matched by both men and women for ICSI during the same period were selected as control group. The outcomes of assisted pregnancy treatment in the three groups were analyzed. Results:All 39 MMAF patients underwent whole-exome sequencing. Among them, 12 patients had DNAH1 gene mutations, 10 cases of compound heterozygous mutations and 2 cases of homozygous mutations, and the other 27 cases were not detected the currently known DNAH1 mutations. The patients of three groups were treated with ICSI, and the differences in the number of oocytes obtained and the number of M II oocytes in the DNAH1 gene positive group, DNAH1 gene negative group and control group were statistically significant (17.08±5.32, 9.59±3.98, 10.44±6.33, P=0.001; 14.58±5.18, 6.78±3.38, 8.32±5.31, P<0.001). There were no statistically significant differences in the embryo implantation rate, the clinical pregnancy rate, the embryo miscarriage rate and the live birth rate (all P>0.05). Among them, 12 couples of male infertility caused by DNAH1 mutation received a total of 12 cycles of oocyte extraction, forming 79 day 3 embryos, 12 times of the first fresh or frozen embryo transplantation, and 10 biological offspring were obtained. Conclusion:For patients with MMAF caused by DNAH1 gene mutation, ICSI can help them to give birth to their own offspring, and has a higher clinical pregnancy rate and live birth rate.

Objective:To investigate the clinical outcomes of infertility patients with multiple morphological abnormalities of the sperm flagella (MMAF) caused by DNAH1 gene mutation after intracytoplasmic sperm injection (ICSI). Methods:A retrospective cohort study analyzed the clinical data and genetic test results of 39 MMAF infertility patients who were treated in the Center for Reproductive Medicine of Henan Provincial People's Hospital from February 2018 to January 2020. Twelve MMAF patients caused by DNAH1 mutations were acted as DNAH1 positive group and 27 MMAF patients with no DNAH1 mutations were acted as DNAH1 negative group. Totally 100 cases of infertility patients with normal sperm morphology and their spouses who were age-matched by both men and women for ICSI during the same period were selected as control group. The outcomes of assisted pregnancy treatment in the three groups were analyzed. Results:All 39 MMAF patients underwent whole-exome sequencing. Among them, 12 patients had DNAH1 gene mutations, 10 cases of compound heterozygous mutations and 2 cases of homozygous mutations, and the other 27 cases were not detected the currently known DNAH1 mutations. The patients of three groups were treated with ICSI, and the differences in the number of oocytes obtained and the number of M II oocytes in the DNAH1 gene positive group, DNAH1 gene negative group and control group were statistically significant (17.08±5.32, 9.59±3.98, 10.44±6.33, P=0.001; 14.58±5.18, 6.78±3.38, 8.32±5.31, P<0.001). There were no statistically significant differences in the embryo implantation rate, the clinical pregnancy rate, the embryo miscarriage rate and the live birth rate (all P>0.05). Among them, 12 couples of male infertility caused by DNAH1 mutation received a total of 12 cycles of oocyte extraction, forming 79 day 3 embryos, 12 times of the first fresh or frozen embryo transplantation, and 10 biological offspring were obtained. Conclusion:For patients with MMAF caused by DNAH1 gene mutation, ICSI can help them to give birth to their own offspring, and has a higher clinical pregnancy rate and live birth rate.

Objective:To investigate the effects of different partial deletions in azoospermia factor (AZF) locus of Y-chromosome on the clinical outcome of severe oligoasthenozoospermia patients by intracytoplasmic sperm injection (ICSI).Methods:A retrospective cohort study was conducted on the patients undergoing high-throughput sequencing for Y chromosome microdeletion screening and ICSI treatment in Reproductive Medicine Center of Henan Provincial People's Hospital from December 2017 to July 2020. According to whether carrying AZFc microdeletions or not, the patients were divided into the AZFc-deletion group and control group. And AZFc-deletion group was divided into 3 subgroups, b2/b3 deletion, b2/b4 deletion and gr/gr deletions subgroup, by the types of partial deletion.Results:The day 3 (D3) available embryo rate, the high-quality embryo rate, and the blastocyst formation rate in patients with AZFc deletion were statistically lower than those in control group [70.4% (556/790) vs. 78.5% (2867/3651), P<0.001; 24.7% (199/807) vs. 34.3% (1284/3747), P<0.001; 51.7% (277/536) vs. 58.0% (1540/2592), P=0.007], and there were no statistical differences in implantation rate, clinical pregnancy rate, live birth rate during transplantation cycle between the two groups (all P>0.05). The AZFc b2/b3 deletion subgroup had no significant differences in D3 available embryo rate, high-quality embryo rate, blastocyst formation rate, implantation rate, clinical pregnancy rate and live birth rate, compared with control group (all P>0.05). The rate of high-quality embryos in patients with the b2/b4 deletion subgroup [23.2% (32/138)] was lower than that of control group ( P=0.004), but there were no statistical differences in D3 available embryo rate, blastocyst formation rate, implantation rate, clinical pregnancy rate and live birth rate (all P>0.05). The D3 available embryo rate [71.6% (280/391)], the high-quality embryo rate [20.8% (84/403)] and the blastocyst formation rate [48.7% (133/273)] in patients of gr/gr deletion subgroup were significantly lower than those in control group ( P=0.002, P<0.001, P<0.001), but there were no statistical differences in implantation rate, clinical pregnancy rate and live birth rate (all P>0.05). Conclusion:AZFc b2/b3 deletion and b2/b4 deletion in the AZFc locus of Y chromosome have no significant effect on embryonic development and pregnancy outcome in patients with severe oligoasthenozoospermia undergoing ICSI. Gr/gr deletion has most adverse effect on embryonic development but no effect on pregnancy outcome.

Objective:To investigate the effects of different partial deletions in azoospermia factor (AZF) locus of Y-chromosome on the clinical outcome of severe oligoasthenozoospermia patients by intracytoplasmic sperm injection (ICSI).Methods:A retrospective cohort study was conducted on the patients undergoing high-throughput sequencing for Y chromosome microdeletion screening and ICSI treatment in Reproductive Medicine Center of Henan Provincial People's Hospital from December 2017 to July 2020. According to whether carrying AZFc microdeletions or not, the patients were divided into the AZFc-deletion group and control group. And AZFc-deletion group was divided into 3 subgroups, b2/b3 deletion, b2/b4 deletion and gr/gr deletions subgroup, by the types of partial deletion.Results:The day 3 (D3) available embryo rate, the high-quality embryo rate, and the blastocyst formation rate in patients with AZFc deletion were statistically lower than those in control group [70.4% (556/790) vs. 78.5% (2867/3651), P<0.001; 24.7% (199/807) vs. 34.3% (1284/3747), P<0.001; 51.7% (277/536) vs. 58.0% (1540/2592), P=0.007], and there were no statistical differences in implantation rate, clinical pregnancy rate, live birth rate during transplantation cycle between the two groups (all P>0.05). The AZFc b2/b3 deletion subgroup had no significant differences in D3 available embryo rate, high-quality embryo rate, blastocyst formation rate, implantation rate, clinical pregnancy rate and live birth rate, compared with control group (all P>0.05). The rate of high-quality embryos in patients with the b2/b4 deletion subgroup [23.2% (32/138)] was lower than that of control group ( P=0.004), but there were no statistical differences in D3 available embryo rate, blastocyst formation rate, implantation rate, clinical pregnancy rate and live birth rate (all P>0.05). The D3 available embryo rate [71.6% (280/391)], the high-quality embryo rate [20.8% (84/403)] and the blastocyst formation rate [48.7% (133/273)] in patients of gr/gr deletion subgroup were significantly lower than those in control group ( P=0.002, P<0.001, P<0.001), but there were no statistical differences in implantation rate, clinical pregnancy rate and live birth rate (all P>0.05). Conclusion:AZFc b2/b3 deletion and b2/b4 deletion in the AZFc locus of Y chromosome have no significant effect on embryonic development and pregnancy outcome in patients with severe oligoasthenozoospermia undergoing ICSI. Gr/gr deletion has most adverse effect on embryonic development but no effect on pregnancy outcome.

OBJECTIVE: To explore the clinical feature and gene variant for two cases of primary male infertility caused by severe asthenospermia and to analyze the etiology of the disease. METHODS: Genomic DNA of peripheral blood samples of patients and their parents was extracted and gene variant analysis of the patients was conducted by using whole exome sequencing. Suspected pathogenic variant was verified by Sanger sequencing and pathogenic analysis. RESULTS: Whole exome sequencing showed that the DNAH1 gene of patient 1 had two heterozygous variants of c.2016T>G(p.Y672X) and c.6017T>G (p.V2006G). The DNAH1 gene of patient 2 had a homozygous variant of c.2610G>A(p.W870X), which were inherited from his father and mother, respectively. According to American College of Medical Genetics and Genomics standards and guidelines, the c.2016T>G (p.Y672X) and c.2610G>A (p.W870X) varaints of DNAH1 gene were predicted to be pathogenic (PVS1+PM2+PM3+PP3). CONCLUSION The two patients of multiple morphological abnormalities of the sperm flagella may be caused by DNAH1 gene variant, which has resulted in primary male infertility.
Dyneins/genetics* ; Genomics ; Humans ; Infertility, Male/genetics* ; Male ; Mutation ; Sperm Tail/pathology* ; Whole Exome Sequencing

Objective To investigate the perioperative nursing for patients undergoing extracranial-intracranial bypass for treatment of Moyamoya disease.Methods Twenty-eight patients with Moyamoya disease who were refractory to maximal medical therapy were recruited in our hospital from March, 2011 to December, 2012, for extracranial-intracranial bypass surgery.Results For the twenty-eight patients with Moyamoya disease, twenty-three had improved in clinical symptoms after EC-IC bypass, the incidence of TIA and cerebral hemorrhage were reduced;postoperative aphasia occurred in four cases;one patient was comatose after operation and complicated with pneumonia.Under appropriate treatment and nursing,twenty-seven patients recovered in two weeks without complications like pneumonia or Deep Venous Thrombosis ( DVT ) .The only patient with complications recovered and was discharged in three weeks under careful nursing.Conclusions For Moyamoya disease patients undergoing EC-IC bypass surgery, timely and intensively perioperative nursing care, prevention and early management of complications, are the key factors of improving clinical outcome and ensuring patient recovery.

10.3969/j.issn.1000-3606.2013.06.015