Li Hj

Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens

BACKGROUNDnGenetic testing of the cystic fibrosis transmembrane conductance (CFTR) gene is currently performed in patients with congenital bilateral absence of vas deferens (CBAVD). This study was conducted to investigate the role of mutations in the CFTR gene in CBAVD-dependent male infertility.nnnMETHODSn73 Chinese patients diagnosed with CBAVD were studied. The entire coding regions and splice sites of 27 exons of the CFTR gene were sequenced in 146 chromosomes from the 73 CBAVD patients. Screening was carried out using PCR, gel electrophoresis and DNA sequencing to identify novel variants of the entire coding regions and boundaries of the 27 exons.nnnRESULTSnFive novel nonsynonymous mutations, three novel splice site mutations and one deletion were identified by sequencing. Apart from the novel variants, we also found 19 previously reported mutations and polymorphism sites. Thirty-four patients (46.57%) had the 5T variant (6 homozygous and 28 heterozygous) and in two of them it was not associated with any detectable mutation of the CFTR gene. All potential pathogenic mutations are not contained in the 1000 Genome Project database. In total, the present study identified 30 potential pathogenic variations in the CFTR gene, 9 of which had not previously been described.nnnCONCLUSIONSnMost patients with CBAVD have mutations in the CFTR gene. A mild genotype with one or two mild or variable mutations was observed in all the patients. These findings improve our understanding of the distribution of CFTR alleles in CBAVD patients and will facilitate the development of more sensitive CFTR mutation screening.

Paraneoplastic Pemphigus Caused by Castleman’s Disease Masquerading as an Adrenal Neoplasm

Departments of Urology (B.S., H.L., H.F., Ho.L., Y.L.) and Dermatology (Q.S.), Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100005, China; Department of Surgery (L.Z.), The First Affiliated Hospital of Qiqihar Medical University, Qiqihar, Heilongjiang 161006, China; Department of Internal Medicine (Y.F.), University of Missouri, Columbia, Missouri 65211; Department of Urology (Y.F.), The Third Affiliated Hospital of Peking University, Beijing 100083, China; and Department of Veterans Affairs Research Service (Y.F.), Harry S. Truman Memorial Veterans Hospital, Columbia, Missouri 65212

Hypobaric hypoxia causes impairment of spermatogenesis in developing rats at pre‐puberty

The effect of hypoxia on the spermatogenesis of male Wistar rats (n = 32) at pre‐puberty was studied using a hypobaric chamber simulating an altitude of 5,000 metres above sea level. Persistent hypoxic exposure with brief interruption for 3 weeks caused significant decreases in body and testis weights and testosterone level compared to the normobaric controls. Histologically, spermatogenic development was arrested; arrays of spermatids were misshaped; numbers of spermatogonia, Sertoli and Leydig cells were reduced; and apoptotic spermatocytes were increased substantially in the germinal epithelium of testis in the hypoxic‐exposed group. These hormonal and histopathological changes did not improve remarkably after 3 weeks of normobaric conditions. There was a significant decrease in sperm production when the rats in the hypoxia/oxygen‐resuming group were examined at 63 days of post‐natal age. Exposing rats to hypoxic conditions at pre‐puberty induced damages on spermatogenesis, which could affect sperm production after sex mature.

Effects of Two Different Dosages of Sildenafil on Patients With Erectile Dysfunction

To investigate the effects of two different dosages of sildenafil on patients with erectile dysfunction (ED), a total of 3,674 patients with ED were recruited to answer questionnaires designed specifically for this study. There were 977 patients in the 50 mg group and there were 2,697 patients in the 100 mg group. Both 50 mg and 100 mg of sildenafil therapy increased the ED patients’ average monthly frequency of sexual intercourse, improved erectile function state in self-assessment, and elevated sexual satisfaction and enjoyment. Despite a higher rate of concomitant diseases, patients in the higher dosage of sildenafil group had a better outcome in the average monthly frequency of sexual intercourse and sexual enjoyment compared with those in the lower dosage. Such a study might be helpful for health care providers to choose sildenafil dosage for patients with ED.

Assessment on Occurrences of Depression and Anxiety and Associated Risk Factors in the Infertile Chinese Men

The prevalence of depression and anxiety in the Chinese male population with infertility is still uncertain. The prevalence of depression, anxiety, and a combination of both psychological symptoms was 20.8%, 7.8%, and 15.4%, respectively in 771 infertile Chinese men in the current study by the Mental Health Inventory–5 and the State–Trait Anxiety Inventory–Short Form questionnaires. Differences in demographics (age, education, and income) had no noticeable impact on the development of psychological symptoms. Clinical factors such as concomitant disorders (varicocele, epididymal cyst, and erectile dysfunction) were identified as risk factors associated with depressive symptoms (OR = 1.47; 95% CI [1.14, 1.90]; p < .001) and both depressive and anxiety symptoms (OR = 1.56; 95% CI [1.17, 2.08]; p < .001). An infertility duration over 2 years was associated with a high risk of anxiety symptoms (OR = 3.94; 95% CI [1.20, 12.93], p < .02). Other clinical conditions such as type of treatment and quality of sperm were not significant risk factors for psychological symptoms. This study provides evidence that Chinese men of reproductive age who suffer from infertility are vulnerable to psychological distress.

Immediate Surgical Intervention for Penile Fracture: a Case Report and Literature Review

PENILE fracture is a critical urological emergency, which is caused by the rupture of the tunica al- buginea of the corpus cavernosum following blunt trauma to the erect penis.Traumatic injuries of the penis often occur in the erected state.1 Due to the possible embarrassment, this condition has been under- reported.Typically, the patient reports a snap or cracking Received for publication December 14, 2010.