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1.
Pakistan Journal of Medical Sciences. 2012; 28 (3): 501-505
Dans Anglais | IMEMR | ID: emr-118597

Résumé

Several reports concern the relationship between low dose oral contraceptive pills [OCP] and the occurrence of strokes. The present study investigates this relationship in childbearing stroke women admitted to university referral hospitals in North-West Iran. One hundred seventy eight female patients between 15 and 44 years of age who were admitted to two referral University Hospitals in a six years period were evaluated in this descriptive-analytical study. Data concerning the use of OCP and other risk factors were recorded. The OCP usage data were compared between the patients and the matched normal population. The average age of the patients was 35.5 +/- 7.4 years. Seventy three patients were admitted with arterial stroke, 15 patients had cardioembolic origin, 39 patients with venous stroke and 46 patients with hemorrhagic stroke, 45.2%, 20%, 59% and 30.4% of them used OCP respectively. Approximately 26.3% of the matched female population of childbearing age used OCP and there was a significant correlation between venous stroke [P < 0.0001] and atherothrombotic stroke [P < 0.0001] with OCP usage. Migraine was the only risk factor that significantly correlated with OCP consumption and stroke. In addition, the data concerning OCP use in the stroke patients, without any other risk factors [32/71: 45%], demonstrated a significant difference comparing the matched population [P < 0.0001]. OCP usage increases the risk of venous and atherothrombotic stroke in North-West of Iran, particularly in those individuals who suffer concurrent migraine

2.
Iranian Journal of Pediatrics. 2010; 20 (1): 107-112
Dans Anglais | IMEMR | ID: emr-99079

Résumé

Pearson syndrome [PS] is a rare multisystem mitochondrial disorder of hematopoietic system, characterized by refractory sideroblastic anemia, pancytopenia, exocrine pancreatic insufficiency, and variable neurologic, hepatic, renal, and endocrine failure. We describe a six-month-old female infant with Pearson marrow syndrome who presented with neurological manifestations. She had several episodes of seizures, Hematopoietic abnormalities were macrocytic anemia and neutropenia. Bone marrow aspiration revealed a cellular marrow with marked vacuolization of erythroid and myeloid precursors. Analysis of mtDNA in peripheral blood showed 8.5 kb deletion that was compatible with the diagnosis of PS. PS should be considered in infants with neurologic diseases, in patients with cytopenias, and also in patients with acidosis or refractory anemia


Sujets)
Humains , Femelle , Nourrisson , ADN mitochondrial/génétique , Délétion de gène , Syndrome , Neutropénie , Manifestations neurologiques
3.
IJKD-Iranian Journal of Kidney Diseases. 2010; 4 (3): 202-206
Dans Anglais | IMEMR | ID: emr-97774

Résumé

In autosomal recessive distal renal tubular acidosis [DRTA], a substantial fraction of the patients have progressive bilateral sensorineural hearing loss. This coexistence is due to the mutations of a gene expressed both in the kidney and in the cochlea. The aim of this study was to assess the correlation between hearing loss and DRTA. In this study, 51 children diagnosed with renal tubular acidosis were evaluated. Diagnosis of DRTA was based on clinical manifestations and detection of normal anion gap metabolic acidosis, urine pH higher than 5.5, and positive urinary anion gap. Audiometry was performed in children with DRTA and sequencing of the ATP6V1B1 gene was done for those with sensorineural hearing loss. Twenty-seven patients [52.9%] had DRTA, of whom 51.9% were younger than 1 year old, 55.6% were boys, and 44.4% were girls. Eleven patients [40.7%] had bilateral sensorineural hearing loss, consisting of 5 of 15 boys [33.3%] and 6 of 12 girls [50.0%]. There was no correlation between hearing loss and gender. Three patients with hearing loss had mutation in the ATP6V1B1 gene [11.1% of patients with DRTA and 27.3% of patients with DRTA and hearing loss]. This study indicated that a significant percentage of the children with DRTA had sensorineural hearing loss and mutation in ATP6V1B1 gene. It is recommended to investigate hearing impairment in all children with DRTA


Sujets)
Humains , Enfant , Mâle , Femelle , Enfant d'âge préscolaire , Nouveau-né , Nourrisson , Adolescent , Surdité neurosensorielle/génétique , Acidose tubulaire rénale/diagnostic , Surdité neurosensorielle/épidémiologie , Audiométrie , Comorbidité , Mutation/génétique
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