Identification of risk genes in Chinese nonobstructive azoospermia patients based on whole-exome sequencing / 亚洲男科学杂志(英文版)

Nonobstructive azoospermia (NOA) is a severe condition in infertile men, and increasing numbers of causative genes have been identified during the last few decades. Although certain causative genes can explain the presence of NOA in some patients, a proportion of NOA patients remain to be addressed. This study aimed to investigate potential high-risk genes associated with spermatogenesis in idiopathic NOA patients by whole-exome sequencing. Whole-exome sequencing was performed in 46 male patients diagnosed with NOA. First, screening was performed for 119 genes known to be related to male infertility. Next, further screening was performed to determine potential high-risk causative genes for NOA by comparisons with 68 healthy male controls. Finally, risk genes with high/specific expression in the testes were selected and their expression fluctuations during spermatogenesis were graphed. The frequency of cystic fibrosis transmembrane conductance regulator (CFTR) gene pathogenic variant carriers was higher in the NOA patients compared with the healthy controls. Potential risk genes that may be causes of NOA were identified, including seven genes that were highly/specifically expressed in the testes. Four risk genes previously reported to be involved in spermatogenesis (MutS homolog 5 [MSH5], cilia- and flagella-associated protein 54 [CFAP54], MAP7 domain containing 3 [MAP7D3], and coiled-coil domain containing 33 [CCDC33]) and three novel risk genes (coiled-coil domain containing 168 [CCDC168], chromosome 16 open reading frame 96 [C16orf96], and serine protease 48 [PRSS48]) were identified to be highly or specifically expressed in the testes and significantly different in the 46 NOA patients compared with 68 healthy controls. This study on clinical NOA patients provides further evidence for the four previously reported risk genes. The present findings pave the way for further functional investigations and provide candidate risk genes for genetic diagnosis of NOA.

Dignosis and treatment of intramuscular hemangioma of skeletal muscles / 中国骨伤

<p><b>OBJECTIVE</b>To study on CTA and MRI in the diagnosis and treatment of hemangioma in the limb skeletal muscles, and to explore therapeutic effects of surgical treatment.</p><p><b>METHODS</b>From April 2003 to February 2011, 18 patients with intramuscular hemangioma in extremities were treated with surgical excision or dense circle suture method. Among the patients, 8 patients were male and 10 patients were female,ranging in age from 5 to 28 years, with an average of 12.5 years. The course of disease ranged from 1 to 5 years. The main symptoms included variable mass and pain, partly with repeated burst bleeding. Eighteen patients underwent MRI examination and 11 patients underwent CTA examination. The operative effects were evaluated by the mass changes, pain and recurrence.</p><p><b>RESULTS</b>There are 6 cases of upper limbs and 12 cases of lower limbs. All pathologic types of all patients with were vascular malformation, in which 13 with blood capillary malformation, 4 with vein malformation, and 1 with arteriovenous fistula malformation. All the patients were followed up, and the duration ranged from 6 months to 2 years,with a mean of 8.8 months. Fifteen patients got an excellent result, 2 good and 1 poor.</p><p><b>CONCLUSION</b>The accordance rate of CTA and MRI in the diagnose of intramuscular hemangioma in skeletal muscle are high. CTA 3D stereo-anatomy imaging has a considerable value in choosing the optimal operative methods, protecting important blood vessel and disposing provision blood vessel. As to the preoperative determination of muscle invasive and the decision of operative method, MRI is more valuable than CTA.</p>

The clinical characteristic of adrenal metastatic tumor / 中华外科杂志

<p><b>OBJECTIVE</b>To analyze the clinical features of adrenal metastasis.</p><p><b>METHODS</b>From January 1993 to December 2004, 103 cases of adrenal metastasis were reviewed.</p><p><b>RESULTS</b>Lung and hepatocellular carcinoma were the most common primary tumor of adrenal metastatic tumor, which about 36.9% (38/103) and 42.7% (44/103) of all cases, followed by renal carcinoma 6.8% (7/103), colorectal carcinoma 4.9% (5/103), stomach carcinoma 3.9% (4/103), breast cancer 1.9% (2/103), unknown primary tumor 2.9% (3/103). Most of these were low differentiation. The mean diameter of adrenal metastasis was 3.9 cm. The mean interval from detection of primary tumor to adrenal metastasis was 9.5 months. And 79.6% (82/103) were detected as a part of multiorgan metastasis. Only 5 cases (4.9%) were presented with pain in the back. There was little characterization of ultrasonography, CT and MRI, color-Doppler and selective arterial imaging showed little blood supply. All of patients were treated with synthetic methods, 16 cases (15.5%) who had undergone adrenalectomy for metastasis disease had a improved survival compared with those non-adrenalectomy.</p><p><b>CONCLUSIONS</b>There is no particular presentation of clinic and imaging, diagnosis depending on history, follow-up and the pathological presentation of primary tumor. There are no standard treatment guidelines for this group of patients. When the primary tumor could be resected or be well controlled, and there is no other evidence of metastasis, adrenalectomy is recommended. Transarterial chemoembolization (TACE) could not actually be performed.</p>