The Fragile-X syndrome in twin sisters

ABSTRACT. Two mentally handicapped dizygotic twin sisters were found to possess the Fragile-X lesion. They showed different levels of cognitive deficit. The hypothesis that the level of cognitive function in female carriers of the Fragile-X lesion may be influenced by Lyonization is discussed. The mother of the twins was schizophrenic. Although she was an obligate carrier her psychosis was thought not to be causally connected with the Fragile-X status.     

Midazolam as a sole sedative for computed tomography imaging in pediatric patients

Objective: To evaluate the efficacy and adverse effects of i.v. midazolam as a sole agent for sedation in children for computed tomography (CT) imaging. Materials and Methods: Prospective clinical trial in which 516 children under ASA classification II–IV (273 boys and 243 girls) in the age group of 6 months to 6 years for elective CT scan were enrolled over a 17‐month period. Patients were administered i.v. midazolam 0.2 mg·kg^?1 and further boluses of 0.1 mg·kg^?1 (total 0.5 mg·kg^?1) if required. Measurements included induction time, efficacy, side effects, complications, and degree of sedation. Sedation was graded on the basis of Ramsay sedation score (RSS) as over sedated (RSS 5–6), adequately sedated (AS, RSS 3–4), under sedated (RSS 1–2), or failed if the procedure could not be completed or another agent had to be administered. Results: Of the 516 procedures, 483 brains, 16 chests, and 17 abdomens were scanned with a mean duration of 4.75 ± 1.75 min with a mean dose of 0.212 mg·kg^?1 of i.v. midazolam. Four hundred and sixty‐five (90.12%) patients were AS in 5.9 ± 0.7 min while 40 (7.75%) patients required additional boluses. Of these 40 patients, 24 (4.65%) required a single bolus, 12 (2.32%) required two boluses, whereas the remaining four (0.78%) required three boluses. In 11 (2.13%; P < 0.0001) patients, the scan could not be completed satisfactorily. Side effects were seen in 46 (9.11%) patients in the form of desaturation, hiccups (seven patients, 1.38%), and agitation (four patients, 0.79%). Desaturation (SpO₂ 90–95%) was seen in 35 (6.93%) patients, which was corrected by topical application of oxygen. None of the patients exhibited any complications such as pulmonary aspiration or need to maintain airway. The patients were kept under observation for 1 h after the procedure. Conclusion: The level of sedation achieved in children with midazolam 0.2 mg·kg^?1 is adequate for imaging with minimal side effects, no airway complications, and fast recovery. It can be recommended as the sole agent for sedation in pediatric patients for CT imaging.     

A recurrent nasopharyngeal carcinoma with lacrimal sac involvement: a case report

TANG I.P., PERIYANNAN P., PREPAGERAN N., SHASHINDER S., SINGH A. & BHAGUBHAI P.N. (2011) European Journal of Cancer Care 20 , 93–95
A recurrent nasopharyngeal carcinoma with lacrimal sac involvement: a case report We report a very rare case of recurrent nasopharyngeal carcinoma with local involvement of lacrimal sac. The patient was treated with chemotherapy and there was no recurrence noted after 1 year of follow‐up.     

SECONDARY SYPHILIS: A CLINICOPATHOLOGIC STUDY

Background. With the resurgence of syphilis in the hiv era, a greater awareness of the clinicopathologic features of the disease is desirable. This report describes and correlates the clinical and histopathologic features of secondary syphilis seen at a teaching hospital in Delhi, India. Methods. Forty biopsies of mucocutaneous lesions from 31 consecutive patients with secondary syphilis, seen between September 1987 and January 1991, were studied and the histopathologic findings correlated with the clinical findings. Results. A spectrum of histopathologic changes ranging from a minimal infiltrate to granulomatous inflammation throughout the dermis was seen. The pattern of inflammation correlated well with the type of skin lesion, with macules showing the least and nodules the most prominent changes. The predominant cell type in the infiltrate was the mononuclear cell/lymphocyte. Plasma cells were seen infrequently. except in condylomata lata. Endothelial proliferation, the “classical” feature of the histopathology of syphilis was noted infrequently. Conclusions. The histologic manifestations of secondary syphilis appear to be as varied as the clinical ones. This calls for close interaction between the clinician and the pathologist to correlate the clinical, serologic, and histologic findings to establish the diagnosis of syphilis.     

Effect of shunt surgery on spleen size, portal pressure and oesophageal varices in patients with non-cirrhotic portal hypertension

Shunt surgery is considered to be the treatment of choice in patients with non-cirrhotic portal hypertension. There is little data on the effect of side-to-side lieno-renal (SSLR) shunt on oesophageal variceal size, splenic size and splenic pulp pressure (SPP) in patients with non-cirrhotic portal hypertension. We evaluated pre- and postoperatively endoscopic grading of varices, splenic size and SPP for predicting shunt patency in 86 patients with non-cirrhotic portal hypertension: 56 with extrahepatic portal venous obstruction (EHPVO) and 30 with non-cirrhotic portal fibrosis (NCPF). The EHPVO patients with patent shunts (n= 47) showed significant reduction in SPP (pre-operative 43.56±7.9 vs postoperative 29.96±7.7 cm of saline), splenic size (6.5±2.8 vs 4.00±2.6 cm below costal margin) and varices grades (2.96±0.5 vs 0.92±0.8). Patients with blocked shunt (n= 9) did not show significant reduction in SPP and varices grades. However, there was reduction in spleen size (8.6±3.0 vs 6.3±4.3). In the NCPF group, 28 had patent shunts and showed significant reduction in SPP (46.3±13.5 vs 33.8±7.6 cm of saline), splenic size (9.1±3.3 vs 6.8±4.6 cm below costal margin) and varices grades (2.8±0.7 vs 1.05±0.96). As only two patients with NCPF had blocked shunts, no statistical comparison between patients with patent and patients with blocked shunts could be done. In conclusion, following SSLR, there is a significant reduction in SPP and varices grades in patients with patent shunts. Endoscopic grading of varices can be used to predict shunt patency. However, spleen size is not a good criteria for predicting shunt patency.     

Electrophysiologic Properties of Cimetidine in Man

Severe bradycardia has been reported with the use of cimetidine. This observation has been explained by histamines' known action in increasing the contraction rate of the spontaneously beating right atrium, strips of ventricular muscle, and whole heart of guinea pigs. Histamine can also produce cardiac arrhythmias in animals. There is evidence for H2 receptors in the heart. Black and his associates have shown that the characteristic effect of histamine on isolated guinea pig atrium could be selectively blocked by anti-H2 drugs. Thus cimetidine probably can produce a sinus bradycardia by blocking the H2-receptor site in the heart. Recently Engel and Luck reported that 300 mgs of intravenously administered cimetidine did not affect heart rate, sinus node recovery time, or sinoatrial conduction time. These workers concluded that there is insufficient evidence to demonstrate that cimetidine caused appreciable sinus node dysfunction in man. In view of the disparity in these reports, we investigated the effects of 300 mgs of intravenously administered cimetidine on the human conduction system.     

The Mortaily and Morbidity of Young Survivors of Myocardial Infarction

The mortaliy and Morbidity of 150 young (less than 45 years)survivors of myocardial infarction was studied prospectivelyover a 10-year period. Thirty-serven deaths (36 due to coronaryartery disease) occurred from one month to 10 years after myocardialinfarction and the cumulative 10-year mortality was 27 per centcompared with 5per cent in the general population. Hifh initiallactatre dehydrogenase levels and continued cigarette smokingager infaction were associated with a poor long-term survival.angina was present at some time during follow-up in 60 per centof patients. severe limitation of exercise tolerance was presentin 18 per cent. and 16 per cent had radiological evidence ofcardiomegaly. Left ventricular failure occurred in 13 patientsand carried a very poor prognosis. Unemployment in 95 men whosurvived 10 years was 32 per cent, half of whom had never returnedto work following infarction, compared with a regional valueof 7 per cent. We have shown that there is a prolonged and persistentmortality and morbibity in young survivors of myocardial infarctionwith a high level of make unemployment. Careful rehabilitationshould reduce the economic loss to the community together withpersuasive advice against cigaretts smoking.