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BACKGROUND: Macrodactyly is a rare congenital malformation characterized by an increase in the size of all structures of a digit, accounting for less than 1% of all congenital upper extremity conditions. CASE SUMMARY: We report a case involving a 49-year-old woman who presented for the first time with untreated, radial-sided hand macrodactyly. We performed soft tissue debulking, amputation, median nerve neurotomy and coaptation, and carpal tunnel release. At the 6-year follow-up, no significant growth was observed in the bone or soft tissue of the affected area. CONCLUSION: Tissue overgrowth in patients with progressive macrodactyly can continue and progress excessively with age. Median nerve neurotomy and coaptation play a crucial role in preventing recurrence of the deformity.

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Assisted reproductive technology (ART) has been widely used among women with infertility. However, the association of ART with birth defects and stillbirth remains controversial and has rarely been reported in China. A retrospective cohort study of 112,043 pregnant women and 114,522 newborns from 2006 to 2016 was performed. Compared to spontaneously conceived infants, ART-conceived infants had a higher likelihood of any birth defect, with an adjusted odds ratio (OR) of 2.10 (95% confidence interval, 1.63-2.69). ART-conceived infants also had a significantly increased risk for subcategories of cardiovascular, musculoskeletal, urogenital, gastrointestinal, and respiratory defects. Most (62.25%) of the effect of ART on birth defects was a direct effect, whereas 37.75% of the effect of ART on birth defects was due to multiple pregnancies (i.e., an indirect effect). Compared with naturally conceived singletons, the combined effect of ART and twins on the risk of birth defects was lower than that of the sum of the individual effects of ART and twins on the risk of birth defects, with an adjusted OR of 0.54 (0.32-0.92). These findings clearly show that ART is associated with an increased risk of birth defects in China and may provide guidance to couples and obstetricians in selecting numbers of pregnancies and in identifying organs at a high risk of birth defects.

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OBJECTIVE: To explore the effects of L-carnitine (LC) on the apoptosis of spermatogenic cells and on the count and motility of epididymal sperm in rats with diabetes mellitus (DM). METHODS: Twenty-four SD rats (200-230 g) were randomly divided into a control group, a DM model group and an LC group. After the establishment of DM models in the latter two groups by injection of streptozotocin (STZ) at 65 mg/kg, the controls and DM models were treated intragastrically with physiological saline, while the rats in the LC group with LC at 300 mg/kg, all for 6 consecutive weeks. Twenty-four hours after the last administration, all the rats were killed for the detection of the count and motility of epididymal sperm and the apoptosis of spermatogenic cells. RESULTS: The motilities of caput and cauda epididymal sperm were (53.7 +/- 1.8)% and (60.3 +/- 1.6)% in the LC group, significantly higher than in the DM model group ([32.2 +/- 2.0]% and [40.5 +/- 1.4]%, P < 0.05), but remarkably lower than in the control ([63.1 +/- 2.4 ]% and [68.9 +/- 1.3]%, P < 0.05). The count of cauda epididymal sperm was (25.5 +/- 1.1) x 10(6)/100 mg in the DM models, and was increased to (32.0 +/- 1.5) x 10(6)/100 mg after LC treatment (P < 0.05), but still markedly lower than in the controls ([37.8 +/- 1.1] x 10(6)/100 mg) (P < 0.05). The apoptosis rate of spermatogenic cells was (52.5 +/- 4.4)% in the DM model group, and it was reduced to (35.3 +/- 3.5)% after LC administration (P < 0.05), but still significantly higher than in the control group ([3.7 +/- 1.3]%) (P < 0.05). CONCLUSION: Intragastrically gavage of LC at 300 mg/kg for 6 weeks increased the epididymal sperm count, improved sperm motility, and reduced the apoptosis of spermatogenic cells in rats with DM.

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OBJECTIVE: To report a heterozygous RNA-splicing mutation (IVS3+ 3A to C) of NF2 gene in a Chinese family with autosomal dominant neurofibromatosis type II and investigate the relationship between the genotype and phenotype. METHODS: The proband with bilateral vestibular schwannomas underwent gamma knife radiosurgery two years earlier. DNA of blood samples from all affected individuals, suspected individuals and unaffected relatives of the family was extracted and amplified to detect the polymorphisms at loci D22S1150 and D22S268 that are linked with the NF2 gene. Two-point LOD score was calculated. The promoter region, 17 exons and exon/intron boundaries of NF2 gene were amplified and sequenced for the proband. The exon 3/intron 3 boundaries of NF2 gene was amplified and sequenced for the other 3 patients, 1 suspected individual, 9 unaffected members of the family and 150 unrelated controls. RESULTS: The result of two-point linkage analysis suggested that NF2 gene was a candidate gene (Zmax= 2.109, θ = 0.00, locus D22S1150). DNA sequencing revealed a heterozygous splicing mutation in intron 3 (IVS3+ 3A to C) for the proband. Identical mutation was also observed in the other 3 patients and 1 suspected individual. No mutation was found in the 9 normal family members and 150 unrelated controls, which was consistent with the clinical diagnosis. CONCLUSION: This is the first report of familial neurofibromatosis type II with a splicing mutation of IVS3+ 3A to C of the NF2 gene. The mutation might be responsible for the neurofibromatosis type II in the family.

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OBJECTIVE: To investigate the feasibility and clinical significance of detecting the plasma membrane integrity (PMI) of sperm by SYBR-14/PI fluorescent staining and flow cytometry. METHODS: A total of 208 semen samples were divided into a normal (n = 31) and an abnormal group (n = 177), subjected to conventional computer-assisted semen analysis (CASA), and then evaluated for sperm PMI by flow cytometry after washed and SYBR-14/PI dual fluorescent staining. The percentage of sperm with PMI was indicated as that of the sperm emitting green fluorescence (SYBR-14+/PI- %). RESULTS: Significant differences were detected in SYBR-14+/PI- and SYBR-14-/PI+ between the normal and abnormal groups (P < 0.05), with the SYBR-14+/PI- % significantly higher in the former ([55.66 +/- 20.64] %) than in the latter ([39.71 +/- 19.21] %) (P = 0.000). The SYBR-14+/PI-% showed significant positive correlations with sperm motility (r = 0.408, P = 0.000) and the percentage of grade a + b sperm (r = 0.398, P = 0.000), and a significant negative correlation with the percentage of grade d sperm (r = -0.413, P = 0.000); the SYBR-14-/PI+ % exhibited significant negative correlations with sperm motility (r = -0.380, P = 0.000) and the percentage of grade a + b sperm (r = -0.397, P = 0.000), and a significant positive correlation with the percentage of grade d sperm (r = 0.385, P = 0.000); the SYBR-14+/PI+ % showed positive correlations with sperm motility (r = 0.172, P = 0.013) and the percentage of grade a + b sperm (r = 0.177, P = 0.011), and a negative correlation with grade d sperm (r = -0.164, P = 0.018). CONCLUSION: SYBR-14/PI dual fluorescent staining and flow cytometry could be readily used to detect sperm PMI and evaluate male reproductivity.

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With the approaching of an aging society, the number of patients with late-onset hypogonadism (LOH) is increasing. There are various methods for the treatment of LOH. And testosterone undecanoate is an effective and safe supplementary therapy for LOH. This paper gives an overview of the advances in the studies of testosterone undecanoate in the treatment of LOH.

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