Search PubMed⌕ Search

Biomedical subjects

A Salam

Publications and source records attributed to A Salam.

70 records · Page 4Linked to original sources
PubMedDate not supplied

Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone.

PURPOSE: To characterize the clinical features and perform linkage analysis of candidate loci in a large Illinois family with autosomal dominant limb-girdle muscular dystrophy (LGMD) and Paget disease of bone (PDB). METHODS: The family includes 11 affected individuals (8 M, 3 F). Clinical, biochemical and radiologic evaluations were performed to delineate clinical features of the disorder. Linkage analysis with polymorphic markers was performed for previously identified LGMD, PDB and cardiomyopathy loci. RESULTS: Onset of PDB is early, at a mean age of 35 y, with classic distribution involving the spine, pelvis, and skull. Muscle weakness and atrophy is progressive with mildly elevated to normal creatine phosphokinase levels. Muscle biopsy in the oldest male revealed vacuolated fibers, however, in others revealed nonspecific myopathy. Affected individuals die from progressive muscle weakness, and respiratory and cardiac failure in their 40s-60s. Linkage analysis excluded autosomal dominant and recessive LGMD, PDB, and cardiomyopathy loci. CONCLUSION: Autosomal dominant LGMD associated with PDB is an unusual disorder. Linkage analysis indicates a unique locus in this family.

Adult↗
PubMedDate not supplied

Expulsion of a lacrimal dacryolith by sneezing: a rare event.

PURPOSE: To describe the case of a man presenting with intermittent epiphora of the right eye and a low grade dacryocystitis due to a dacryolith. METHODS/RESULTS: He was treated conservatively and was offered a Dacryocystorhinostomy. A few weeks before surgery, he developed swelling and pain over the right medial canthus followed by violent sneezing with spontaneous extrusion of the dacryolith. DISCUSSION: The authors propose that the dacryolith fragmented spontaneously and once it reached the nasal cavity, was expelled by violent sneezing to the nostril, a mechanism not previously reported. CONCLUSIONS: Reformation of dacryolith is a likely possibility, and recurrence of symptoms in such cases may ultimately require a Dacryocystorhinostomy.

Calculi↗
PubMedDate not supplied

Does the circadian pattern for acute cardiac events presentation vary with fasting?

BACKGROUND: Over one billion Muslims fast worldwide during the month of Ramadan. The impact of fasting on circadian presentation with acute cardiac events is unknown. AIM: To determine if fasting has any effect on the circadian presentation of acute cardiac events. SETTING AND DESIGN: A prospective study in a general hospital. MATERIALS AND METHODS: Patients with acute coronary events were divided into two groups based on the history of fasting. Information about age, gender, cardiovascular risk factor profiles and outcome was collected. The relationship of time of presentation of initial symptoms with fasting was evaluated using Student's t-test, Mann-Whitney U-test and chi2 analysis. RESULTS: Of the 1019 patients hospitalized during the study period, 162 were fasting. Although, fasting patients were more likely to present to the emergency department in the time periods 5-6 AM (10.5% vs 6.3%) and 11 PM (11.1% vs 7.1%) and were less likely to present in the time periods 1-2 PM (3.7% vs 7.2%) and 5-6 PM (3.7% vs 7.0%); these differences were not statistically significant. Fasting patients were less likely to have their symptoms start between 5 and 8 AM (11.1% vs 19.4%) and more likely to have symptoms between 5 and 6 PM (11.1% vs 6.0%) and 3 and 4 AM (11.1% vs 6.9%). These differences for time of initial symptoms were statistically significant (P=0.002). CONCLUSION: Exogenous factors associated with fasting, namely, the changes in food intake and/or sleep timings, affect the circadian rhythm and influence the timing of presentation of acute coronary events.

Angina, Unstable↗