A unilateral presentation of 'Satoyoshi syndrome'

Satoyoshi syndrome is a rare, slowly progressive disorder of unknown etiology with a poor long-term prognosis. The syndrome consists of the following clinical features: (1) painful, intermittent muscle spasms; (2) alopecia; (3) diarrhea; and (4) skeletal abnormalities in cases of juvenile onset. The age of onset is typically less than 20 years of age, although three adult onset cases had been reported. There had been no case report of Satoyoshi syndrome with strict unilateral presentation. We present a 25-year-old man with progressive unilateral hair loss and muscle spasms. Although previous literature had postulated malabsorption and autoimmune mechanism as pathogenic for Satoyoshi syndrome, the presence of a strictly unilateral presentation argues against those hypotheses. However, these hypotheses should still be considered, as our patient did not fit a typical Satoyoshi syndrome. Therefore, more research is needed to understand the pathophysiology and develop an effective treatment to prevent the progression of the disease.     

膀胱移行细胞癌微卫星不稳定性及其机制的研究

目的　探讨膀胱移行细胞癌 (BTCC)染色体微卫星不稳定性的表现及与基因突变的关系。方法　采用聚合酶链反应 (PCR)方法检测 4 0例 BTCC患者 5个微卫星位点的改变 ,同时用同样的方法检测癌组织中BAX基因和转化生长因子 (TGF) - β 型受体基因移码突变的情况。结果　至少发生一个微卫星位点改变的阳性率为 82 % (33/ 4 0 ) ,D9S16 2、D16 S4 76、D9S5 4、FGA和干扰素 (IFN) - A1位点改变各自的阳性率分别为 5 8%(2 3/ 4 0 )、 4 2 % (17/ 4 0 )、 38% (15 / 4 0 )、 4 8% (19/ 4 0 )和 5 5 % (2 2 / 4 0 ) ,阳性检出率与良性病变差异有显著性 ,与肿瘤的分期分级无显著相关性。发生微卫星改变的 33例中 ,33% (11/ 33)和 4 2 % (14 / 33)分别可见 TGF- β 型受体基因和 BAX基因的移码突变。结论　检测染色体微卫星的改变是 BTCC早期诊断、监测复发的有效手段 ,染色体微卫星改变可能是 BTCC发生过程中多基因突变的一种表现形式     

Echocardiographic findings in mild and severe forms of sickle cell anemia

M-mode echocardiographic findings were compared between sickle cell anemic and healthy children. Patients were composed of two groups; Group 1: mild group with no crises, no blood transfusions at the ages of 5.0 to 13.0, total of 12 children; Group 2: severe group, with frequent crises with requirement of blood transfusions at the ages of 3.0 to 13.0 years, total of 18 children. Control group was composed of 12 healthy children aged 5.0 to 13.0. When M-mode echocardiographic findings were compared, important findings were as follows: Mean left atrium dimension was increased both in the mild and severe groups (P < 0.001) compared with controls. This finding also supports the increase in the left ventricle end-diastolic dimension in both the severe and mild groups as compared with controls (P < 0.001). The increase in end-diastolic left ventricle dimension could be due to anemia present in the patients, but there was no difference between the two patient groups. Posterior left ventricle thickness and left ventricle mass was increased in both the mild and severe groups compared with controls (P < 0.001, P < 0.05), respectively. Left ventricular fractional shortening was more or less the same with controls. In spite of left ventricular volume load and dilatation, left ventricular contraction was good and systolic function was normal, and there was no correlation between the ECHO findings and hematological indices.     

Hypolipidaemic activity of seaweed from Karachi coast

During the present study, ethanol extracts of five seaweed species Solieria robusta, Iyengaria stellata, Colpomenia sinuosa, Spatoglossum asperum and Caulerpa racemosa at 10 mg/ 200 g body weight were tested for their hypolipidaemic activity. All the species significantly decreased the serum total cholesterol, triglyceride and low density lipoprotein cholesterol levels in normal, triton-induced and diet-induced hyperlipidaemic rats. Solieria robusta was found to be the most effective in reducing the lipid profile, particularly in diet-induced hyperlipidaemic rats. A beneficial effect of the ethanol extract of S. asperum was also found on cardiac and liver enzymes in diet-induced hyperlipidaemic rats.     

Operative management of rigid congenital club feet in Bangladesh

We report the early results of the surgical treatment of 59 rigid congenital clubfeet in 42 patients. All the feet were operated on in the same hospital by using a one-stage posteromedial release in 41 patients. The patients were divided into two groups as 24 patients (32 feet) had come to the hospital from rural areas, whereas 18 patients (28 feet) all came from the local semi-urban area. After an average of 2 years and 3 months 44 feet were graded either excellent or good, 7 were fair, and 8 had not been adequately corrected. The best results were seen in children who were operated on between the ages of 1 and 3 years. Those from the semi-urban area and who received adequate long-term postoperative care were slightly better.     

Instructional improvement: how to overcome the barriers?

This is no easy way to improve teaching. Not one or even two activities are right or best for all instructions. The improvement of instruction requires a multi directional approach. When faculty members, departmental heads or interested administrator come across an idea they find appealing, they often tend to be converted and start proselytizing. The way to better teaching lies in review of videotaped teaching samples or diagnostic student evaluation with consultation, or seminars on course design, or monitoring with master teachers, peer assessment or whatever the favored strategy happens to be. All of these are possible ways to better teaching, made right or best only after they have been carefully matched with their instructional needs of the teacher, course content & instructional setting.     

Auditory brain stem evoked responses (ABRs) in children with delayed speech (DS)—A Diagnostic Problem

The results of analysis of auditory brain- stem evoked responses (ABRS) are reported in 173 patients with delayed speech (DS). The mean age of the patients is 4.6 years (age ranges from 1.4 years to 10 years). The patients were classified into 5 groups based on ABR findings:

Mediastinal extension of an intradural teratoma in a patient with split cord malformation: case report and review of literature

Introduction It is very rare for split cord malformation to be associated with intraspinal teratoma, and it is even rarer for such tumors in the dorsal spine to extend into the mediastinum.Case report The authors describe a spinal teratoma with mediastinal extension in an 8-year-old boy who presented with 1-year history of backache. Neuroimaging revealed a heterogeneously enhancing intradural lesion from D2 to D7 levels with an extension into the mediastinum at the level of D4 vertebra. A split cord malformation type 2 and a cervical syrinx were also present. At surgery, a reddish-brown vascular tumor was present from D3 to D5 levels and was found to be going anteriorly into a defect in the body of D4 vertebra. Gross total excision of the intraspinal tumor was performed. Follow-up at 1 year revealed no recurrence or metastases.Discussion To the authors knowledge, this is the first case of an intradural teratoma extending into the mediastinum, occurring concurrently with split cord malformation and other spinal anomalies.     

Intraventricular rhabdoid tumor

Malignant rhabdoid tumor (MRT) most commonly occurs in kidney. In the central nervous system, cerebellum is the most common site of occurrence. CNS rhabdoid tumors typically occur in small children, do not respond favorably to treatment and are usually fatal within 1-year. Here is reported a 4-year-old child who presented with features of raised intracranial pressure. Apart from papillodema, there were no neurological signs. Imaging revealed a left lateral ventricular heterogeneous mass abutting the foramen of monro, with mild irregular contrast enhancement and hydrocephalus. the child underwent right ventriculo-peritoneal shunt followed by craniotomy and gross total tumor resection. He was discharged 10-days after surgery without any neurological deficits. Histopathology revealed features compatible with rhabdoid tumor. Despite radiotherapy and chemotherapy, the child died of progressive disease 10-months after surgery. the highly malignant nature of this tumor makes early diagnosis essential for aggressive management and prognostication.