Cardiac autonomic function evaluation in pediatric and adult patients with congenital myasthenic syndromes

Cardiac autonomic dysfunction has been examined in myasthenia gravis but not in congenital myasthenic syndromes (CMS). We aimed to evaluate cardiac autonomic functions in genetically defined CMS. Patients diagnosed with and under treatment for CMS were reviewed for 24-hour cardiac rhythm monitoring. Heart rate variability (HRV) measures were defined as: SDNN, mean of the standard deviations for all R-R intervals; SDNNi, standard deviation of all R-R intervals in successive five-minute epochs; RMSSD, square root of the mean of squared differences between successive R-R intervals. Ten patients with mutations in the epsilon subunit of the acetylcholine receptor (AChRε) and five patients with mutations in the collagen-like tail of asymmetric acetylcholinesterase (ColQ) were included. Median age at evaluation was 17 (2.5–46) years. In the AChRε group, RMSSD values; and in the ColQ group, SDNN, SDNNi and RMSSD values were significantly lower than those of healthy subjects. This first extensive report examining HRV in CMS showed alterations in patients with ColQ mutations and, to a lesser extent, in the group with AChRε mutations. This might indicate an increased risk of cardiac arrhythmias. We suggest cardiological follow-up in CMS, and consideration of any potential cardiovascular effects of therapeutic agents used in management.     

计算机辅助蒙药治疗萨病的作用机制

目的:通过计算机辅助的数据挖掘以及药理学方法,预测、探讨蒙药治疗萨病的作用机制。方法:选取文献及临床收集萨病方剂,结合数据挖掘方法、复杂网络分析方法及专家讨论意见,确定萨病核心方。借助网络药理分析平台得到核心方剂对应的萨病相关靶点信息及通路信息。对上述信息进行进一步分析,得到蒙药干预萨病的作用机制预测结果。结果:蒙药核心方由麝香等5味药物组成,共得到与萨病有关靶点33个,涉及58个化合物。结论:蒙药核心方从神经血管单元层面治疗萨病的作用,可能是通过17β雌二醇、谷甾醇、肉桂醛、丁香酚等成分,调节神经活性配体-受体互作用通路、钙离子信号通路、多巴胺能神经突触等通路上的ESR1/2、F2、AKT1、GRIN2B、DRD2/3、HTR1A/2A等相关蛋白来实现的。     

An unusual presentation of hepatocellular carcinoma

Hepatocellular carcinoma (HCC) metastasis to the lymph nodes has been reported in about one-third of autopsies, mostly to the regional chains. Involvement of cervical lymph nodes is extremely rare. We encountered an unusual case of HCC in a patient with chronic liver disease presenting with right-sided anterior cervical lymph node metastasis skipping mediastinal and supraclavicular chains. One should be aware of that unusual site of presentation and metastasis of HCC so as not to miss the diagnosis.     

Histopathologic changes in the mucosa of ileal orthotopic neobladder--findings in 24 patients followed up for 5 years

OBJECTIVE: To evaluate changes occurring in the mucosa of the neobladder over a period of 60 months in 24 patients with orthotopic ileal neobladder. MATERIALS AND METHODS: A total of 36 male patients have undergone radical cystoprostatectomy and received an orthotopic ileal neobladder in our hospital during the last 10 years; 24 of these patients, all of whom completed a follow-up period of 60 months, are included in this study. All cases underwent a biopsy of the ileal mucosa at the time of surgery and their neobladder mucosa was then biopsied at 6, 12, 24, 36 and 60 months. The specimens were stained with hematoxylin-eosin in order to examine the changes in the thickness of the mucosa and its villi. Sections were also stained with Alcian blue and periodic acid-Schiff in order to determine the number of goblet cells. A morphometric scoring system was created to quantify the change in villi size. RESULTS: The mean thickness of the ileal mucosa at the initial biopsy was 270.9 +/- 35.9 microm and displayed a continuous decrease at all of the subsequent biopsies. The number of luminal goblet cells increased during follow-up. Villus atrophy was found to be a continuous process during follow-up. No dysplasia or malignancy was detected in any of the biopsies. CONCLUSION: During a follow-up period of 5 years, there were no neoplastic changes in our patients, but instead a protective response of the mucosa to its new environment was observed.     

Sonographic diagnosis of recurrent ulcer penetrating the anterior abdominal wall

Penetration of a recurrent ulcer into the anterior abdominal wall after surgical treatment of peptic ulcer disease is a rare surgical emergency. Early diagnosis is essential, but there are no specific radiographic or endoscopic features. We report 2 cases of recurrent ulcer penetration into the anterior abdominal wall diagnosed preoperatively with transabdominal sonography. The ulcers appeared as cavity lesions, with hyperechoic bases that had destroyed the continuity of the stomach wall. Associated findings were a minimal amount of fluid around the ulcer cavity and a hypoechoic area considered secondary to inflammation or edema. The diagnoses were confirmed at laparotomy.     

Antimicrobial susceptibility of Shigella flexneri and S. dysenteriae isolated from stool specimens of patients with bloody diarrhoea in Mwanza, Tanzania

This study was conducted to determine frequency and pattern of antimicrobial susceptibility of Shigella species isolated from stool specimens collected from patients presenting with bloody diarrhoea in Mwanza City, Tanzania. The study was carried out from October 2004 to October 2005 and involved patients attending Sekou Toure Regional Hospital and Butimba Health Centre. Bacteriological cultures were done at the National Institute for Medical Research laboratory. A total of 489 patients (median age = 20 years) participated in the study and were able to provide stool specimens. Shigella species were isolated from 14% (69/489) of the stool specimens collected. Of the sixty nine strains of Shigella spp isolated, 62 (90%) were S. flexneri and 7 (10%) were S. dysenteriae. All Shigella strains isolated showed high resistance to ampicillin, tetracycline, trimethoprim-sulphamethoxazole and chloramphenicol, drugs commonly used for management of shigellosis in Tanzania. However all isolates were fully susceptible to ciprofloxacin, nalidixic acid, erythromycin, cefuroxime and gentamycin. S. flexneri showed resistance to amoxy-clavulanic_acid and azithromycin in 5% and 2% of isolates, respectively. None of the S. dysenteriae isolates were resistant to these two drugs. Entamoeba histolytica, Giardia lamblia and Schistosoma mansoni were microscopically detected in 16.5%, 4.4% and 5.3% of patients, respectively. These findings suggest that there is a need to carry out extensive susceptibility studies in different parts of the country with view of re-appraising the current guidelines for management of bloody diarrhoea in Tanzania.     

Sonographic findings in achalasia

PURPOSE: The aim of this study was to describe the sonographic features of achalasia. METHODS: Thirty-five patients with achalasia (17 men and 18 women; mean age, 43 years) were examined with transabdominal sonography, and the findings were compared with those in 41 volunteers without esophageal disease (21 men and 20 women; mean age, 41 years), 10 patients with gastroesophageal junction carcinoma (7 men and 3 women; mean age, 55 years), and 4 patients with peptic stricture (3 men and 1 woman; mean age, 39 years). The distal end of the esophagus was evaluated, and the thickness of the esophageal wall was measured. RESULTS: In 28 fasting patients (80%) with achalasia, sonography showed dilatation, retention of fluid, and smooth narrowing of the distal esophagus (like a bird's beak). These findings were not identified in the other patients or volunteers. In addition, in 6 of 7 achalasia patients who had no sign of esophageal dilatation in the fasting state, water retention was demonstrated after ingestion of water, bringing the total number of patients with achalasia with positive sonographic findings to 34 (97%). In patients with achalasia, the mean thickness (+/- standard deviation) of the esophageal wall at the gastroesophageal junction was 4.8 +/- 0.9 mm (range, 3.6-7.2 mm). The thickening was regular, symmetric, and localized to the gastroesophageal junction. In the volunteers, the mean thickness of the esophageal wall was 2.3 +/- 0.5 mm (range, 1.4-3.5 mm). The difference between the 2 groups was statistically significant (p < 0.001). In the patients with carcinoma, the mean wall thickness was 17.0 /+ 1.1 mm, and the thickening was irregular. In the patients with peptic stricture, the mean wall thickness was 5.1 +/- 1.1 mm (range, 3.8-8.3 mm), and the thickening was irregular and occupied a longer segment of the distal esophagus. CONCLUSIONS: In patients with achalasia, transabdominal sonography clearly shows the regular thickening of the esophageal wall, water retention, dilatation of the distal esophagus, and the bird's beak appearance. Sonography may help in differentiating achalasia from carcinoma and peptic stricture of the gastroesophageal junction, which is difficult to do with other modalities.