中国男性原发不育的遗传高风险因子:Y染色体DAZ基因拷贝缺失

目的 探讨Y染色体无精症因子C区(azoospermia factor C，AZFe)无精症缺失基因(deleted-in-azoospermia，DAZ)家族基因拷贝缺失与中国男性原发不育之间的关系。方法 运用多重PCR与PCR-RFLP检测技术，对210例已生育男性、216例原发无精症与189例严重少精症患者Y染色体AzFc区域DAZ基因家族的基因拷贝数进行分析。结果 在所有已生育男性中未检出DAZ基因拷贝的完全或部分缺失，而在原发无精症与严重少精症患者中DAZ基因拷贝完全缺失率分别为8．8％和12．2％，DAZ1／DAZ2共缺失率分别为8．3％和5．3％。结论 在中国男性原发无精症与严重少精症患者中存在较高频率的DAZ基因拷贝缺失现象，提示Y染色体AZFc区域DAZ基因家族基因拷贝的完全与部分缺失是中国男性原发不育的遗传高风险因子。     

A novel G protein-coupled receptor kinase gene cloned from 4p16.3.

Within the Huntington's disease (HD) candidate region of 4p16.3, the D4S127 locus displays strong linkage disequilibrium with the defect and anchors a conserved haplotype found on many HD chromosomes. To isolate genes from this region we have applied the exon amplification technique to overlapping cosmids spanning D4S127. Here, we report the discovery of a new gene encoding a novel member of a family of protein kinases that specifically phosphorylate the activated forms of G protein-coupled receptors. Such kinases are thought to participate in desensitization of specific receptors, thereby blocking further signal transduction. This gene must now be carefully scrutinized to determine whether it might be involved in HD.     

Inhibitory effect of islet amyloid polypeptide of glucose-induced proinsulin biosynthesis in rat insulinoma cells.

Islet amyloid polypeptide (IAPP) has been recently identified as the principal constituent of amyloid deposits in pancreatic islets of patients with type 2 (non-insulin-dependent) diabetes mellitus and causes insulin resistance in some target cells. In addition, glucose-induced insulin secretion is inhibited by IAPP. We studied the effect of IAPP on proinsulin biosynthesis in rat insulinoma (RINr) cells. Glucose at concentrations of 0, 15, 30, 60, 100, and 300 mg/dl stimulated proinsulin biosynthesis in a dose-responsive and and actino-mycin D-inhibitable manner after 6 h of incubation. At a glucose concentration of 300 mg/dl, IAPP decreased the mean responses of proinsulin biosynthesis to 61.2 and 29% at concentrations of 0.1 and 1 microM, respectively, compared with the IAPP-free control. In conclusion, IAPP inhibits glucose-induced proinsulin biosynthesis in RINr cells. IAPP might play an important role in the pathogenesis of type 2 diabetes mellitus.     

Transurethral incision and posterior resection of prostate (TUI-PRP) for selected patients with benign obstructive prostatic disease.

Transurethral incision and posterior resection of the prostate (TUI-PRP) is described and used to overcome my three concerns in performing transurethral incision of the prostate (TUIP). The favorable result from TUI-PRP is presented.     

Immunopathological study on the uterine spiral arteries in pregnancy-induced hypertension]

The uterine spiral arteries were studied by the immunohistochemical ABC method in 30 cases of Pregnancy Induced Hypertension (PIH) and 10 cases of normal pregnant women. Depositions of IgM and/or C3 on the vessel wall were significantly observed only in PIH cases (15 cases, 50.0%; P < 0.05). Depositions of IgG were seen in 5 cases of PIH 16.7% showing significantly decrease. (P < 0.001), as compared with the normal pregnant women (9 cases, 90.0%). The results suggest that PIH is related to chronic rejection reaction resulting possibly from the decrease of local immunosuppression in pregnancy. Meanwhile the positive stain of IgG, IgM and C3 seen in the nuclei of decidual cells in some of PIH cases were discussed.     

Acute pseudo-obstruction of the colon following partial splenic artery embolization: report of a case.

This is a case of a 45-year-old woman suffering from liver cirrhosis with hypersplenism who received a partial splenic artery embolization with gelfoam pieces. Thrombocytopenia and leukopenia improved immediately after treatment. Marked abdominal distention, metallic bowel sounds and combined small and large bowel distension with air-fluid levels as shown on a plain abdominal X ray were noted on the fifth day after the embolization procedure. Laparotomy was performed. No mechanical obstruction was found during surgery. Acute pseudo-obstruction of the colon (Ogilvie's syndrome) was diagnosed. This condition was considered to be a complication of the partial splenic artery embolization and has not hitherto been reported.     

Pancreas divisum with early pancreatic cancer--presenting as chronic obstructive pancreatitis.

A 61-year-old man experienced four bouts of pancreatitis in 1 year. Detailed history taking and a series of examinations, including sonography, computed tomography scan, and endoscopic retrograde cholangiopancreatography (ERCP), revealed pancreas divisum on the first admission. He was treated conservatively. However, repeated ERCP on the fourth admission, 1 year later, showed a small filling defect in the tail of the pancreatic duct. A distal pancreatectomy was carried out. Pathological studies revealed a small papillary adenocarcinoma (1.5 x 1.0 x 0.5 cm) confined to the pancreatic duct grossly with minimal parenchymal invasion microscopically. He has been free from cancer and pancreatitis for 13 months since the operation.     

Rules for differentiating symptoms and signs of the heart-qi deficiency syndrome

344 cases of Heart-Qi Deficiency Syndrome (HQDS) including 19 Kinds of disease were observed to explore the rule of differentiation of symptoms and signs for HQDS. The results showed that the common symptoms of HQDS were weakness, shortness of breath, and palpitation, etc. According to with or without complicated cardiovascular diseases, the patients were divided into two groups: group A with cardiovascular diseases, group B without that. In group A, the symptoms and signs of HQDS were the most frequent and early clinical manifestations, the associated symptoms and signs were blood stasis and attack of water-evil, etc. In group B, in whom often associated with nervous and emotional symptoms such as insomnia, dreamfulness, and amnesia, etc., which was due to the disturbance of emotional activities of heart. In order to avoid diagnostic confusion, the authors suggest that the HQDS patients with cardiovascular diseases would be diagnosed as HQDS; on the other hand, the HQDS patients without cardiovascular diseases would be diagnosed as disturbance of emotional activities of heart.