Hereditary neuropathy with liability to pressure palsies: description of seven patients without known family history.

OBJECTIVES: Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited disorder resulting in a polyneuropathy with particular involvement at sites of entrapment, and is often underdiagnosed or misdiagnosed. We report findings on seven patients referred for evaluation of focal mononeuropathies or polyneuropathies of undetermined etiology, in whom we established a diagnosis of HNPP. MATERIALS AND METHODS: We retrospectively reviewed clinical, electrophysiological and laboratory data for patients diagnosed with HNPP over a 4-year period at our institution. RESULTS: All patients had transient or recurrent neurological symptoms, some with residual deficits. No patients had a family history of any neuropathy. Electrodiagnostic studies revealed abnormal conduction findings at symptomatic and asymptomatic sites. Testing for the Peripheral Myelin Protein (PMP22) deletion was positive in all patients. CONCLUSIONS: A high index of clinical suspicion and thorough electrodiagnostic evaluation can lead to correct diagnosis of HNPP, despite the absence of a positive family history.

Gastro-duodenal mucosal changes associated with low-dose aspirin therapy: a prospective, endoscopic study.

OBJECTIVES: The association of low-dose aspirin use and gastro-intestinal bleeding is well described. However, the gastroduodenal mucosal changes associated with low-dose aspirin therapy have not been properly evaluated. We undertook a prospective, endoscopic study to evaluate gastro-duodenal mucosal lesions produced by low-dose aspirin. METHODS: Forty-seven patients with non-hemorrhagic cerebral infarct or transient ischemic attacks and normal upper gastrointestinal endoscopy were randomized to receive either enteric-coated (n=25) or plain (n=22) aspirin (150 mg/day). Follow-up endoscopy was done at 2, 4 and 8 weeks; gastro-duodenal mucosal lesions, if present, were scored. Forty-seven patients with hemorrhagic infarct who were not treated with aspirin served as controls. RESULTS: Twenty eight (60%) of 47 patients receiving aspirin had mucosal lesions; stomach alone was the most frequent site (32%), followed by both stomach and duodenum (23%). Frequency of mucosal changes in the stomach at 8 weeks (19%) was significantly lower (p<0.05) than those at 2 weeks (53%) and 4 weeks (55%). Coated (56%) and plain (63.6%) aspirin induced mucosal lesions with similar frequency. CONCLUSION: Administration of low-dose aspirin, either plain or enteric-coated, induces endoscopic gastro-duodenal mucosal lesions in a large majority of patients. The frequency of damage decreased after 8 weeks of therapy.

Arthropathic presentation of Wilson's disease.

A patient is described who presented with polyarthritis involving small and large joints of limbs with later onset of tremors affecting all four extremities. Investigations including genetic study confirmed the diagnosis of Wilson's disease (WD). The case highlights the importance of considering the possibility of WD in young patient presenting with repetitive unexplained joint symptoms with or without tremor.

Profile of women undergoing medical termination of pregnancy in hospital.

The present study was undertaken to find out the profile of women undergoing medical termination of pregnancy (MTP) in Hospital, 1000 consecutive cases undergoing MTP at RG Kar Medical College and Hospital were studied. 95.6% cases were married and 4.4% cases were unmarried. In the whole series, 7.6% cases were teenagers though in unmarried group 90.9% cases were teenagers. In 56% of married group the monthly family income was more than Rs 500/- whereas majority in unmarried group had family income less than Rs 500/- per month. In the whole series, 44.4% cases were illiterate, 48.2% cases were educated up to primary school and only 7.3% cases up to high school and above. In the married group, 204 cases undergoing MTP with one living issue, 388 cases with 2 living issues and 396 cases with 3 living issues. In the whole series, 88% cases were 1st trimester MTP and 12% were 2nd trimester MTP cases, whereas in the unmarried group 72.7% cases were in the 2nd trimester, and 5.7% cases had history of previous MTP. Effective contraception was only 6% before MTP whereas it increased to 90.6% after MTP.

PIP: This study was undertaken to determine the profile of 1000 consecutive cases of women undergoing medical termination of pregnancy (MTP) at R G Kar Medical College and Hospital. 95.6% of the cases were married and 4.4% were unmarried. In the whole series, 7.6% of cases were unmarried teens; 90.9% were teens. In 56% of the married group, the monthly family income was more than Rs500/month whereas the majority of those in the unmarried group had family incomes of less than Rs500/month. Across the series, 44.4% of the cases were illiterate, 48.2% were educated up to primary school, and only 7.3% of the cases had a high school education or higher. In the married group, 204 cases undergoing MTP had one living issue, 388 cases had 2 living issues, and 396 cases had 3 living issues. In the whole series, 88% of cases were first trimester MTP and 12% were second trimester MTP, whereas among the unmarrieds, 72.7% of cases were in their second trimesters and 5.7% of cases had a history of previous MTP. Effective contraception was seen in only 6% prior to MTP whereas it increased to 90.6% after MTP.

Direct role of hydrogen in the Staebler-Wronski effect in hydrogenated amorphous silicon.

We report a hydrogen-related defect that establishes the direct role of hydrogen in stabilizing the silicon dangling bonds created in the Staebler-Wronski effect in hydrogenated amorphous silicon. A specific NMR signal due to paired hydrogen atoms occurs only after optical excitation, exists at an intensity that is consistent with the density of optically induced silicon dangling bonds, and anneals at temperatures that are consistent with the annealing of the optically induced silicon dangling bonds. At this defect the hydrogen atoms are 2.3+/-0.2 A apart.