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Biomedical subjects

A Kara

Publications and source records attributed to A Kara.

At least 37 records · Page 2Linked to original sources
PubMed1998

Does the polymorphism 677C-T of the 5,10-methylenetetrahydrofolate reductase gene contribute to homocysteine-related vascular disease?

Whether the 677C-T polymorphism of the methylene tetrahydrofolate reductase (MTHFR) gene acts as a risk factor for homocysteine-related vascular disease remains a matter of debate. Testing for the 677C-T nucleotide substitution and assay of plasma homocysteine were carried out simultaneously in 69 controls and 113 vascular disease patients from the Paris area. The variant gene frequency as well as the variant homozygous genotype frequency were very similar in controls and patients. Conversely, plasma homocysteine levels were substantially higher in patients than in controls. A slight interaction between the 677C-T MTHFR polymorphism and homocysteinaemia was observed in the patient group only, while a negative correlation between fasting homocysteine and plasma folate levels was found in all individuals homozygous for the 677C-T MTHFR genotype, irrespective of vascular disease. These data suggest that the 677C-T MTHFR polymorphism is not a major determinant of the vascular disease but contributes to increased plasma homocysteine concentration in conjunction with low plasma folate levels.

5,10-Methylenetetrahydrofolate Reductase (FADH2)↗
PubMed1997

Analysis of 65 Turkish patients with congenital aplastic anemia (Fanconi anemia and non-Fanconi anemia): Hacettepe experience.

During the last 14 years, 65 unrelated patients were diagnosed as having constitutional aplastic anemia (CAA). In 52 of 65 patients the diepoxybutane (DEB) test was positive. Comparison of several hematological and clinical parameters in Fanconi anemia (FA) (DEB+) and non-Fanconi anemia (non-FA)(DEB ) patients disclosed no statistically significant differences. The study indicated that in Turkey there were no peculiarities in associated congenital abnormalities in FA and non-FA. The rate of consanguinity was 78% in FA and 46% in non-FA, suggesting that also among the non-FA group recessively inherited disorders are hidden. The mean age at diagnosis in FA was 7.7+/-4.4 (1.8-12) and in non-FA 7.8+/-3.8 (2-15) years. Nine out of 52 FA and five out of 13 non-FA patients died during the follow-up period. Five of the 52 FA patients developed malignancies, three of them had acute myeloblastic leukemia (AML), one a squamous cell carcinoma of the gingiva, and another a hepatocellular carcinoma. Peliosis hepatica occurred in three of the FA and one of the non-FA patients. A total of seven patients stayed in remission without any medication. The remaining 58 patients were given 2-5 mg/kg of oxymetholone and 5 mg prednisolone treatment. Because of sustained remission, oxymetholone therapy was terminated in four of the 45 FA and two of the 13 non-FA patients. Detailed examination of the pedigrees of all of patients indicated the presence of multiple congenital anomalies. In seven of 52 FA and one of 13 non-FA patients there was increased risk for AML and/or other cancers among family members.

Abnormalities, Multiple↗
PubMed1996

Front-line management of pulmonary tuberculosis: an analysis of tuberculosis and treatment practices in urban Sindh, Pakistan.

SETTING: Karachi and Hyderabad, Pakistan. OBJECTIVE: To describe the level and quality of tuberculosis (TB) case management by non-TB control program (TCP) physicians in urban Sindh, Pakistan. DESIGN: We interviewed 152 adults with pulmonary TB confirmed by Karachi's TB control program regarding the initial management of their TB symptoms before entering the TCP. We also surveyed 65 general practitioners (GPs) attending continuing education seminars with a multiple choice test to assess their management of suspected pulmonary TB. We compared both results to guidelines from the World Health Organization (WHO) and the International Union Against Tuberculosis and Lung Disease (IUATLD). RESULTS: Eighty percent (122/152) of patients first sought GPs. Only 14% of GPs performed any sputum test. At most, 17 (40%) of the 42 patients recalling their GP's treatment, received the recommended 4-drug regimen. However, 68% (45/65) of surveyed GPs chose correct treatment from a multiple choice format. But their initial laboratory investigations, follow-up, and treatment cessation criteria (9%, 9-31%, and 11% correct, respectively) demonstrated under-utilization of sputum tests and over-reliance on unhelpful tests. CONCLUSIONS: GPs first saw most of these TCP patients, but their weak management likely hinders TB control. A partnership between TB control programs and GPs could improve case management and hasten TB control.

Adolescent↗
PubMed1994

Hyperglycemia, ketoacidosis and other complications of L-asparaginase in children with acute lymphoblastic leukemia.

We show Escherichia coli derived L-asparaginase complications observed in 14 of 136 acute lymphoblastic leukemia patients during remission induction therapy according to St. Jude Children's Hospital Total XI Protocol. We observed hyperglycemia in six patients; two of them had accompanying ketoacidosis. One of the cases with ketoacidosis had peritonitis and pancreatitis. Central nervous system symptoms such as convulsions and depression with personality changes (in one case) were observed in four of these six hyperglycemic patients. Intracranial bleeding and ischemic infarction were shown in cranial computed tomographies in two cases. Hypersensitivity reactions were observed in seven patients. Patients were randomly assigned into two groups and treated with conventional dose steroids or high dose methylprednisolone. Although the frequency of hypersensitivity reactions were lower in the high dose methylprednisolone group, one patient in this group had an anaphylactic reaction. These findings once again high-light L-asparaginase complications which are not dose dependent and can be life threatening.

Acidosis↗
PubMedDate not supplied

Localized acquired hypertrichosis following cast application.

A 11-year-old boy with transient hypertrichosis following calcaneal osteotomy and cast application for 2 months is described. We postulate that hyperemia may be responsible for his hypertrichosis, which lasted 3 months and created a cosmetic problem.

Casts, Surgical↗
PubMedDate not supplied

Fatal necrotizing pneumonia caused by group A streptococcus.

Group A streptococcus (GAS) causes invasive, non-invasive and non-suppurative diseases. Pneumonia is one of the invasive infections caused by GAS. Although GAS is a significant and serious cause of childhood pneumonia, it is often overlooked clinically. Similarly, the recent literature is surprisingly scant on reports of GAS pneumonia and concentrates mainly on varicella-associated invasive GAS diseases. In this case report, we present a previously healthy 7-year-old child with community-acquired pneumonia that progressed rapidly and resulted in sepsis, respiratory failure and death. In both blood and pleural fluid cultures, Streptococcus pyogenes were isolated. On autopsy, macroscopic examination revealed that the lung tissue appeared to have lost its normal architecture. Necrosis was present and the lung had a spongy appearance with some solid areas. The light microscopy revealed massive oedema, haemorrhages, intense inflammatory cell infiltration and necrosis. This case report highlights the need for consideration of invasive GAS infection in the event of severe, rapidly progressing pneumonia in children.

Anti-Bacterial Agents↗
PubMedDate not supplied

Bilateral abdominal aplasia cutis congenita associated with atrial septal defect: a case report.

A full-term infant girl who had bilateral, symmetrical, sharply defined, triangular-shaped ulcers on both sides of the umbilicus is described. A punch biopsy specimen showed histologic findings of aplasia cutis. Echocardiographic examination revealed primum-type atrial septal defect. To our knowledge, this association is the first of its kind to be reported in the literature.

Abdomen↗