Biallelic mutations in spermatogenesis and centriole-associated 1 like (SPATC1L) cause acephalic spermatozoa syndrome and male infertility / 亚洲男科学杂志(英文版)

Acephalic spermatozoa syndrome is a rare type of teratozoospermia that severely impairs the reproductive ability of male patients, and genetic defects have been recognized as the main cause of acephalic spermatozoa syndrome. Spermatogenesis and centriole-associated 1 like (SPATC1L) is indispensable for maintaining the integrity of sperm head-to-tail connections in mice, but its roles in human sperm and early embryonic development remain largely unknown. Herein, we conducted whole-exome sequencing (WES) of 22 infertile men with acephalic spermatozoa syndrome. An in silico analysis of the candidate variants was conducted, and WES data analysis was performed using another cohort consisting of 34 patients with acephalic spermatozoa syndrome and 25 control subjects with proven fertility. We identified biallelic mutations in SPATC1L (c.910C>T:p.Arg304Cys and c.994G>T:p.Glu332X) from a patient whose sperm displayed complete acephalia. Both SPATC1L variants are rare and deleterious. SPATC1L is mainly expressed at the head-tail junction of elongating spermatids. Plasmids containing pathogenic variants decreased the level of SPATC1L in vitro. Moreover, none of the patient's four attempts at intracytoplasmic sperm injection (ICSI) resulted in a transplantable embryo, which suggests that SPATC1L defects might affect early embryonic development. In conclusion, this study provides the first identification of SPATC1L as a novel gene for human acephalic spermatozoa syndrome. Furthermore, WES might be applied for patients with acephalic spermatozoa syndrome who exhibit reiterative ICSI failures.

Investigation on freshwater crab populations and Paragonimus infections in the Minjiang River basin along the middle section of Wuyi Mountain / 中国血吸虫病防治杂志

Objective To investigate the populations of freshwater crabs, the intermediate host of Paragonimus and Paragonimus infections in freshwater crabs in the Minjiang River basin along the middle section of Wuyi Mountain, so as to provide baseline data for parasitic disease control and research and expansion of the parasite resource bank. Methods From November 2020 to April 2021, freshwater crabs were sampled from streams and ditches neighboring residential areas in Jianning County and its neighboring Ninghua, Shaowu, Jiangle and Shunchang counties. The crab species was identified based on the morphological features of the terminal segment of the first abdominal appendage of male crabs, and Paragonimus infections were detected in freshwater crabs. The Paragonimus metacercariae were isolated, and the types of metacercariae were identified based on the metacercaria size, cystic wall thickness, and the excretory bladder and intestinal tract morphology. In addition, the prevalence, intensity and index of metacercaria infections were calculated in freshwater crabs. Results There were seven crab species found in Jianning County and six neighboring water systems along the Minjiang River basin, including Sinopotamon jianglense, S. fukinense, Huananpotamon lichuanense, H. lini, H. shenni, H. planopodum, Bottapotamon engelhardti, and there were metacercariae of three Paragonimus species detected in these crabs, including P. westermani, P. skrjabini and P. sanpingensis, with a prevalence rate of 43.6% (125/287). The infection rates of P. westermani, P. sanpingensis and P. skrjabini were 57.1% (48/84), 26.2% (22/84) and 61.8% (21/34) in S. jianglense, and the infection rates of P. westermani and P. sanpingensis were 52.6% (51/97) and 30.9% (30/97) in S. fukinense, while the rate of P. westermani infection was 6.9% (5/72) in H. lichuanense, which is the first record of P. westermani infections in H. lichuanense. Mixed P. westermani and P. sanpingensis infections were predominantly found in freshwater crabs sampled from Jianning County, where the rate of Paragonimus infections was 70.4% (76/108), with 15.3 metacercariae identified in each crab with Paragonimus infections and 1.9 metacercariae found in each gram of crabs with Paragonimus infections, and the index of metacercariae infections was 20.5. In addition, P. westermani, P. skrjabini and P. sanpingensi metacercariae were found in freshwater crabs sampled from Jianning-neighboring counties, where the rate of Paragonimus infections was 52.3% (56/107), with 9.8 metacercariae identified in each crab with Paragonimus infections and 0.9 metacercariae found in each gram of crabs with Paragonimus infections, and the index of metacercariae infections was 4.6. Conclusion There are multiple freshwater crab species and Paragonimus infection is high in freshwater crabs in Jianning County and its neighboring Minjiang River basin, which is a high-risk natural focus for Paragonimus infections.

Effects of rapid entrance into plateau area on the vascular endothelial function and the relationship to acute mountain sickness / 解放军医学杂志

Objective To observe the changes in the vascular endothelial function indexes in subjects who enter plateau areas expeditiously, and investigate the relationship between their changes and acute mountain sickness (AMS). Methods Thirty two healthy young male lowlands residents were recruited as subjects, and they were sent by bus to an area of altitude of 3900m. According to the score of Lake Louise questionnaire, the subjects were divided into AMS+ and AMS- group at the 5th day after the entrance into plateau. The changes in the vascular endothelial function indexes (NO, ET-1, VEGF, VE-cadherin, MDA and SOD) in serum of the subjects were detected by ELISA. Pearson correlation analysis was performed to identify the relationship of AMS to the changes of the indexes mentioned above. Results On the 5th day after being exposed to high altitude, the incidence of AMS was 43.8% (14/32). The serum levels of NO and SOD in subjects were significantly lowered (P+ group as compared with those in AMS- group (P<0.05 and P<0.01, respectively). Correlation analysis showed that the serum levels of NO, VEGF, VE-cadherin and SOD were negatively correlated with AMS after a 5-day high altitude exposure, while serum level of ET-1 was positively correlated with AMS. Conclusions Rapid entrance into plateau area may induce damage to vascular endothelial function of the subjects, and it affects the serum levels of NO, ET-1, VEGF, VE-cadherin and SOD. The changes in these indexes may provide the potential basis for prewarning and diagnosis of AMS.

Treatment of super obesity by laparoscopic Roux-en-Y gastric bypass: experience of 42 cases / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To investigate the feasibility and efficacy of laparoscopic Roux-en-Y gastric bypass(LRYGB) for super obesity(BMI≥50 kg/m(2)).</p><p><b>METHOD</b>Clinical data of 42 patients undergoing LRYGB in the First Affiliated Hospital of Jinan University between 2004 and 2008 were analyzed retrospectively.</p><p><b>RESULTS</b>All the LRYGB procedures were successfully performed with no conversion to open surgery. Average operation time was 145.1 minutes, volume of blood loss during the surgery was 25.0 ml, and length of postoperative hospital stay was 9.9 days. The cases were followed up for 1 month to 30 months. Body weight and BMI decreased significantly 1 month after the operation and reached a minimum level after 2 years then became stable while excess body weight loss rate(EWL) increased(P<0.05). All the obese-related symptoms were relieved significantly. Four cases(9.5%) showed complications during perioperative period including 1 case of respiratory failure, 2 cases of gastrojejunal anastomotic bleeding, 1 case of umbilical wound infection, and 11 developed long-term complications. All of them were cured by conservative treatment.</p><p><b>CONCLUSIONS</b>Treatment of super obesity by LRYGB is feasible with significant short-term results. But due to the difficulty of the operation and postoperative complications, comprehensive treatment from experienced bariatric surgical team is needed. The long-term outcome needs for further observation.</p>

Antecolic versus retrocolic gastroenteric anastomosis for laparoscopic Roux-en-Y gastric bypass: a prospective randomized control trial / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To compare short-term postoperative outcomes between antecolic and retrocolic laparoscopic Roux-en-Y gastric bypass(LRYGB).</p><p><b>METHODS</b>Forty obesity patients were admitted into The First Affiliated Hospital of Jinan University from March 2008 to July 2010. All patients were randomly assigned to undergo antecolic (group A, 20 cases) and retrocolic (group B, 20 cases) gastroenteric anastomosis. Short-term outcomes were compared.</p><p><b>RESULTS</b>LRYGB procedures were successfully performed in all the 40 patients. There were no significant differences between the two groups in estimated blood loss during surgery, time to flatus passage, time to resumption of oral intake, or length of postoperative hospital stay. The operation time was longer in group B than that in group A [(163.4±28.1) min vs.(131.8±22.7) min, P<0.05]. There were no patients developed internal hernia or anastomotic leakage in either group. Comparison of short-term gastrointestinal symptoms after surgery showed no statistical significance.</p><p><b>CONCLUSIONS</b>Although retrocolic procedure may be closer to anatomical structure, antecolic and retrocolic anastomosis have comparable short-term outcomes after surgery. Further study is warranted to investigate long-term outcomes.</p>

Laparoscopic Roux-en-Y gastric bypass surgery for treatment of type 2 diabetes mellitus / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the surgical approach, feasibility and effectiveness of laparoscopic Roux-en-Y gastric bypass (LRYGB) surgery for treating type 2 diabetes mellitus.</p><p><b>METHODS</b>Seven obese patients with type 2 diabetes and 5 type 2 diabetic patients without obesity received LRYGB surgery. The changes of the body mass, fasting blood glucose (FBG), 2-hour postprandial blood glucose (2 h PBG), C peptide (C-P) and HbA1c% were observed postoperatively.</p><p><b>RESULTS</b>LRYGB procedures were successfully performed in all the 12 patients with no conversion to open surgery. The resolution rate was 85.7% in the obese group and 80% in the non-obese diabetic group.</p><p><b>CONCLUSION</b>LRYGB surgery is feasible for treatment of type 2 diabetes with good short-term result, but the long-term outcome awaits further observation.</p>

Treatment of obesity and type 2 diabetes mellitus by laparoscopic Roux-en-Y gastric bypass / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To investigate the efficacy of laparoscopic Roux-en-Y gastric bypass (LRYGB) in the treatment for obesity and type 2 diabetes mellitus (DM).</p><p><b>METHODS</b>Twenty-one cases of obesity and 9 cases of type 2 DM received the LRYGB. Weigh changes, excess body weight lose rate (EWL%) and blood glucose level were measured after surgery and occurrence of complications was observed postoperatively.</p><p><b>RESULTS</b>LRYGB procedures in all the 30 cases were successfully performed with no conversion to open surgery. Average operation time was 168 minutes (110-270 mins), volume of blood loss during the surgery was 24.0 ml (10-75 ml). Twenty-one cases of simple obesity received follow-up from 2 months to 5 years. Body weight and BMI decreased significantly in one month [(85.1+/-10.1) kg vs (97.2+/-15.0) kg, 31.2+/-2.2 vs 35.3+/-3.5, both P<0.01] and to a minimal level in 2 to 3 years [(66.8+/-9.2) kg, 24.3+/-1.1], and then maintained at this level. EWL% was correspondingly higher (all P<0.05). Nine type 2 DM patients were followed up for 3 to 8 months, fasting blood glucose and blood glucose OGTT2 hours decreased significantly [(5.9+/-1.4) mmol/L vs (12.6+/-2.6) mmol/L, (7.8+/-1.4) mmol/L vs (17.8+/-4.1) mmol/L, both P<0.05], of whom 4 patients with obesity decreased in BMI significantly (P<0.05), and 5 patients without obesity had no significant changes in BMI (P>0.05). Five cases (16.7%) had postoperative complications, including 1 case of death due to acute fulminant pancreatitis, 1 case of mesenteric hiatal hernia with obstruction in line for reoperation, and the other 3 cases of healing by conservative therapy.</p><p><b>CONCLUSIONS</b>Treatment of obesity and type 2 DM by LRYGB surgery is feasible with significant short term result. Long term outcome needs further observation.</p>

Endoscopic thyroidectomy via the areola of breast approach / 中华外科杂志

<p><b>OBJECTIVE</b>To investigate the feasibility and safety of endoscopic thyroidectomy via the areola of breast approach.</p><p><b>METHODS</b>Between April 2005 to September 2008, endoscopic thyroidectomy via the areola of breast approach was performed in 28 female patients. Of the patients, 25 cases presented with nodular goiter, 2 cases with Grave's disease and 1 case with minimum papillary carcinoma. The average age was 22.5 years (range, 18-38 years). A 10 mm trocar was placed on the medial border of the areola of the right breast for the video-endoscopy and removing specimens, and a 5 mm trocar was placed on the lateral border of the areola of the same breast as the assisted operation hole. Another 5 mm trocar was placed on the medial border of the areola of left breast as the main operation hole. The operation data was recorded and analyzed.</p><p><b>RESULTS</b>All the 28 operations were successful. The procedures included one lobe total thyroidectomy in 5 cases, one lobe subtotal thyroidectomy in 15 cases, subtotal thyroidectomy in 3 cases, one lobe near total thyroidectomy + the other lobe subtotal thyroidectomy in 4 cases, and one lobe total thyroidectomy + the central group lymph node resection + the other lobe subtotal thyroidectomy in 1 case. The average operation time was 60.7 minutes (range, 40-125 minutes), the average operation blood loss was 5.8 ml (range, 2-15 ml), the average length of post-operative hospital stay was 3.1 days (range, 2-5 days). No adverse effects was found after the operation, such as damage to the parathyroid gland and the laryngeal nerve. The patients were followed-up for 1 to 40 months with satisfactory results. All 28 patients were satisfied with the cosmetic effects of the operation.</p><p><b>CONCLUSIONS</b>Endoscopic thyroidectomy via the areola of breast approach produces an outstanding cosmetic effect, it is safe and feasible.</p>

Treatment for severe rectal prolapse by laparoscopic rectopexy / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To evaluate the clinical practice of laparoscopic rectopexy in the treatment of severe rectal prolapse.</p><p><b>METHODS</b>From March 1998 to February 2007, 4 cases of complete rectal prolapse, including 1 male and 3 female,ranged 21-82 years old, were treated by laparoscopic rectopexy. In one case, the posterior wall of rectum was freed and elevated, and pre-rectal introcession was closed by silk suture, then the posterior wall was suspended and fixed on sacral promontory fascia, finally the sigmoid colon was fixed by sutures on the fascia of left psoas major. In other three cases, insertion of mesh was performed. Rectum was freed and elevated to the level of levalor ani. A sheet of T-shape polypropylene mesh was placed posterior to the rectum, whose lower margin was at the level of levator ani and wrapped around the rectum covering except the anterior wall. The free margin of the mesh was sutured on the muscular layer of rectum, then the mesh was put posterior to the rectum and fixed on the sacral promontory fascia by clipping to repair hernia. After that, the pelvic peritoneum was closed, and finally the sigmoid colon was fixed by sutures on the fascia of left psoas major.</p><p><b>RESULTS</b>Four operation procedures were completed successfully. There was no conversion operation. The time was consumed 92.5 (80-100) min, and the bleeding amount was 6.5 (5-10) ml. No post-operative complications were found. Urine incontinence and encopresis were relieved. No recurrence and constipation was found after 2 months to 3 years follow up postoperatively.</p><p><b>CONCLUSION</b>Laparoscopic rectopexy is a safe, workable and effective procedure, which can reduce operative trauma and shorten hospitalization time.</p>

Endoscopic thyroidectomy via chest and breasts approach in 500 cases / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To discuss the method, the safety, the advantages and disadvantages of endoscopic thyroidectomy via chest and breasts.</p><p><b>METHODS</b>From Mar. 2002 to Dec. 2006, endoscopic thyroidectomy via anterior chest and breast approach was performed in 500 patients, including 76 cases of Grave's disease (1 case had an opened operation history), 111 cases of thyroid adenoma, 291 cases of nodular goiter (10 cases have 1-2 opened thyroidectomy history, 2 cases secondary of hyperthyroidism), and 22 cases of thyroid carcinoma.</p><p><b>RESULTS</b>The endoscopic thyroidectomy was successfully carried out in 492 cases, including tumor enucleation in 50 cases, partial lobectomy in 210 cases, subtotal thyroidectomy in 212 cases (including 73 cases of Graves' disease), and lobectomy in 16 cases of thyroid carcinoma. The operative time length ranged from 40 to 270 min (mean 74.5 min). Mean operative blood loss was 5.5 ml (3-250 ml), no cases underwent blood transfusion. The drainage was taken out in the second or third days postoperatively. Postoperative hospital stay ranged from 3 to 8 days (mean 4.2 days). There were some complications including subcutaneous bleeding (3 cases), burn of the epidermal (1 case), inflammation of the incision (2 cases), subcutaneous bruising (3 cases), subcutaneous effusion (6 cases), thyroid crisis (1 case), and temporarily hoarseness of 2 cases. There were no complications such as permanence damage to recurrent laryngeal nerve or parathyroid glands. The complication rate was 3.6% (18/492). The hospital charges ranged from 7600 to 13,500 RM yuan. The average cost of endoscopic thyroidectomy was 10,510 RM yuan, in contrast to 5700 RM yuan for the open thyroidectomy patients. The post-operative following-up was 3 to 57 months (mean 27 months). All the patients were satisfied with the cosmetic results and the same curative effects as conventional surgery were obtained. However, 3 cases of nodular goiter, 1 case of thyroid carcinoma, and 1 case of Grave's disease were recurrence. The operations were converted into open surgery in 8 cases. The 22 cases with carcinoma were survival until now.</p><p><b>CONCLUSIONS</b>Endoscopic thyroidectomy is a safe and effective method of thyroid surgery. Since all the minimal incisions are on concealed parts of the body, the obvious cosmetic effect of this method is guaranteed. Some disadvantages such as complications and more costs are needed to be improve.</p>

Drug Resistance and Clinical Distribution of Common Nonfermenters in Nosocomial Infection / 中华医院感染学杂志

OBJECTIVE To investigate the clinical distribution and drug resistance of the nonfermenters between 2000 and 2004 in our hospital. METHODS The bacteria were identified by ATB,drug resistance test was then performed by K-B method. RESULTS A total of 875 strains of nonfermentative Gram-negative bacteria were isolated from various clinical specimens during Jan 2000-Dec 2004.The dominant strains were Pseudomonas aeruginosa((313 strains)),Acinetobacter baumannii(287 strains) and Stenotrophomonas maltophilia(180 strains).They happened most commonly in the respiratory system.The positive rate from sputum and pharyngeal probe was 73.7% and 6.2%.The resistance rate of P.aeruginosa and A.baumannii to imipenem was the lowest,accounted for 17.6% and 7.7%.These nonfermenters were highly resistant to cefalotin,ceftriaxone and sulfamethoxazole/trimethoprim.The resistance rate of S.maltophilia to sulfamethoxazole/trimethoprim was lower than the others,the rate being 7.8%. CONCLUSIONS The drug resistance of nonfermenters to frequently-used antibacterials is higher.Due to the high resistant rates,the drugs should be chosen according to the result of the drug susceptibility test.

Endoscopic thyroidectomy with 150 cases / 中华外科杂志

<p><b>OBJECTIVE</b>To discuss the method, the advantages and disadvantages of endoscopic thyroidectomy.</p><p><b>METHODS</b>Endoscopic thyroidectomy via areola of breasts approach was performed in 150 patients, including 41 cases of thyroid adenoma, 64 cases of nodular goiter, 40 cases of Graves' disease, and 5 cases of thyroid carcinoma.</p><p><b>RESULTS</b>The endoscopic thyroidectomy was successfully carried out in 144 cases, including tumor dissection in 32 cases, one lobe partial thyroidectomy in 54 cases, two lobe partial thyroidectomy in 19 cases, subtotal thyroidectomy in 37 cases of Graves' disease, and radical thyroidectomy in 2 cases of thyroid carcinoma. The operative time length ranged from 50 to 270 min (mean 80 min). There were no complications such as damage to recurrent laryngeal nerve or parathyroid glands. Postoperative hospital stay ranged from 3 to 7 days (mean 4 days). The post-operative following-up for 1 approximately 13 months indicated that all the patients were satisfied with the cosmetic results and the same curative effects as conventional surgery were obtained. However, the operations were converted into open surgery in 6 cases.</p><p><b>CONCLUSIONS</b>Endoscopic thyroidectomy is a safe and effective method of thyroid surgery. Since all the minimal incisions are on concealed parts of the body, the obvious cosmetic effect of this method is guaranteed.</p>