Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.
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Canavan disease is a severe progressive autosomal recessive disorder, which is characterised by spongy degeneration of the brain. The disease is caused by mutations in the aspartoacylase gene. Two different mutations were reported on 98% of the alleles of Ashkenazi Jewish patients, in which population the disease is highly prevalent. In non-Jewish patients of European origin, one mutation (914C > A) is found in 50% of the alleles, the other alleles representing all kinds of different mutations. We here describe the results of the mutation analysis in 17 European, non-Jewish patients. Ten different mutations were found, of which four had not been described before (H21P, A57T, R168H, P181T). A deletion of exon4, which until now had only been described once, was revealed in all five alleles of Turkish origin tested, indicating that this is a founder effect in the Turkish population. (+info)
Familial aggregation of Behcet's disease in Turkey.
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OBJECTIVE: Familial aggregation of Behcet's disease has been reported previously. The current study aimed at investigating the sibling recurrence risk ratio (lambda s) for Behcet's disease, which is of value in the estimation of the magnitude of genetic factors in the pathogenesis of Behcet's disease. METHODS: 170 consecutive unrelated index cases (98 male, 72 female) were interviewed with a detailed questionnaire to ascertain their family trees and the manifestations of Behcet's disease in their relatives. Subsequently, the immediately older sibling, or if an older sibling was not available, the immediately younger sibling, was selected as the second sibling for the evaluation. These siblings were contacted by telephone, and all subjects with recurrent oral ulcers were invited for examination. RESULTS: 31 of the 170 index cases had 51 relatives fulfilling the International Study Group criteria. Among 166 second siblings, seven had Behcet's disease (six male, one female) and 22 siblings (eight male, 14 female) with recurrent oral ulcers were identified. Sibling recurrence rate-defined as the ratio of the risk of being affected among the siblings of patients and the risk of being affected in the general population- was found to be 4.2%, which gives a lambda s value for Behcet's disease of between 11.4 and 52.5 in Turkey. CONCLUSIONS: A high lambda s value supports a strong genetic background for Behcet's disease which will be helpful in designing genetic linkage studies. (+info)
An infant with severe combined immunodeficiency syndrome, an alpha-thalassemia trait and renal Fanconi syndrome.
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We describe an infant with severe combined immunodeficiency syndrome and an alpha-thalassemia trait who developed a renal Fanconi syndrome after his first stem cell transplantation. This syndrome consists of a generalized failure of proximal tubular reabsorption, which leads to a large number of metabolic disturbances. The etiology varies from inherited causes, including an idiopathic form, to acquired causes such as intoxications, immunological disorders and hemoglobinopathies. In this case report we discuss possible explanations of the Fanconi syndrome in our patient. (+info)
The prevalence of asthma and allergy among university freshmen in Eskisehir, Turkey.
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The aim of this study was to determine the current and cumulative prevalence of asthma, allergic rhinitis, atopic dermatitis and reactivities to allergen skin prick tests (SPT) among university freshmen. The data at the first stage were collated through the application of the European Community Respiratory Health Survey (-ECRHS-Stage I) questionnaire on 1603 students registering at various faculties and vocational colleges of Osmangazi University in Eskisehir, Turkey, in the academic year 1997-1998. At the second stage a physical examination as well as allergen SPTs were conducted on 151 students. Of the students within the study group, six (0.4%) had experienced an asthma attack within the previous 12 months, 11 (0.7%) had a past of asthma attacks and 123 (8.1%) reported wheezing attacks within the previous 12 months. The prevalence of asthma-like symptoms, rhinoconjunctivitis and dermatitis were found to be 17.0%, 10.0% and 5.9% respectively. Asthma and asthma-like symptoms were found to be significantly more prevalent among students who smoked. A positive SPT reaction to more than one allergen was found in 14.6% of the students. SPT positivity was 8.3% in asymptomatic students, 27.3% in asthmatic students, 14.5% in those with asthma-like symptoms, 28% in those with non-infectious rhinitis and 7.1% in those with dermatitis. In analysis of logistic regression, a history of atopy, as ascertained in the questionnaire, was seen to have a significant effect on SPT positivity. The rate of self-reported asthma and/or asthma-like symptoms among newly enrolled freshmen at the Osmangazi University was found to be lower than in other countries. Cigarette smoking was seen to increase such symptoms significantly, in comparison to non-smokers. (+info)
Clinical significance and frequency of Blastocystis hominis in Turkish patients with hematological malignancy.
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The effect of Blastocystis hominis (B. hominis) in both immunocompetent and immunocompromised subjects has been the subject of debate in recent years, mostly in response to its unknown pathogenicity and frequency of occurrence. We performed a non-randomised, open labelled, single institute study in our hospital in order to investigate the clinical significance and frequency of B. hominis in patients suffering from hematological malignancy (HM) who displayed symptoms of gastrointestinal diseases during the period of chemotherapy-induced neutropenia. The presence and potential role of other intestinal inclusive of parasites were also studied. At least 3 stool samples from each of 206 HM patients with gastrointestinal complaints (the HM group) were studied. These were compared with stool samples from a control group of 200 patients without HM who were also suffering from gastrointestinal complaints. Samples were studied with saline-lugol, formalin-ether, and trichome staining methods. Groups were comparable in terms of gender, age and type of gastrointestinal complaints. In the HM group, the most common parasite was B. hominis. In this group, 23 patients (13%) had B. hominis, while in the control group only 2 patients (1%) had B. hominis. This difference was statistically significant (P < 0.05). Symptoms were non-specific for B. hominis or other parasites in the HM group. The predominant symptoms in both groups were abdominal pain (87-89.5%), diarrhea (70-89.5%), and flatulence (74-68.4%). Although all patients with HM were symptom-free at the end of treatment with oral metranidazol (1,500 mg per day for 10 days) 2 patients with HM had positive stool samples containing an insignificant number of parasites (< 5 cells per field). In conclusion, it appears that B. hominis is not rare and should be considered in patients with HM who have gastrointestinal complaints while being treated with chemotherapy. Furthermore, metranidazol appears to be effective in treating B. hominis infection. (+info)
Low levels of high density lipoproteins in Turks, a population with elevated hepatic lipase. High density lipoprotein characterization and gender-specific effects of apolipoprotein e genotype.
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Turks have strikingly low levels of high density lipoprotein cholesterol (HDL-C) (10-15 mg/dL lower than those of Americans or Western Europeans) associated with elevated hepatic lipase mass and activity. Here we report that Turks have low levels of high density lipoprotein subclass 2 (HDL(2)), apoA-I-containing lipoproteins (LpA-I), and pre-beta-1 HDL and increased levels of HDL(3) and LpA-I/A-II particles (potentially an atherogenic lipid profile). The frequency distributions of HDL-C and LpA-I levels were skewed toward bimodality in Turkish women but were unimodal in Turkish men. The apoE genotype affected HDL-C and LpA-I levels in women only. In women, but not men, the varepsilon2 allele was strikingly more prevalent in those with the highest levels of HDL-C and LpA-I than in those with the lowest levels. The higher prevalence of the epsilon2 allele in these subgroups of women was not explained by plasma triglyceride levels, total cholesterol levels, age, or body mass index. The modulating effects of apoE isoforms on lipolytic hydrolysis of HDL by hepatic lipase (apoE2 preventing efficient hydrolysis) or on lipoprotein receptor binding (apoE2 interacting poorly with the low density lipoprotein receptors) may account for differences in HDL-C levels in Turkish women (the epsilon2 allele being associated with higher HDL levels). In Turkish men, who have substantially higher levels of hepatic lipase activity than women, the modulating effect of apoE may be overwhelmed. The gender-specific impact of the apoE genotype on HDL-C and LpA-I levels in association with elevated levels of hepatic lipase provides new insights into the metabolism of HDL. (+info)
BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients.
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To date, BRCA1 and BRCA2 mutations in breast and/or ovarian patients have not been characterized in the Turkish population. We investigated the presence of BRCA mutations in 53 individuals with a personal and family history of breast and/or ovarian cancer, and 52 individuals with a personal history of breast cancer diagnosed below age 50 without additional family history. We have identified 11 mutations (nine BRCA1 and two BRCA2) using combined techniques involving protein truncation test, direct sequencing and heteroduplex analysis. We found eight out of 53 patients (15.1%) with a family history to carry BRCA gene mutations (seven BRCA1 and one BRCA2). Of these, four were found in 43 families presenting only breast cancer histories, and four were found in families presenting ovarian cancer with or without breast cancer. We also demonstrated two BRCA1 and one BRCA2 mutations in three out of 52 (5.8%) early-onset breast cancer cases without additional family history. Three of nine BRCA1 and both BRCA2 mutations detected in this study were not reported previously. These mutations may be specific to the Turkish population. The BRCA1 5382insC mutation, specific to Ashkenazi and Russian populations, was found twice in our study group, representing a possible founder mutation in the Turkish population. (+info)
Help-seeking behavior and self-medication of a population in an urban area in Turkey: cross sectional study.
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AIM: To define help-seeking behavior and self-medication among people with different symptoms and complaints in an industrialized urban area of Turkey. METHODS: This cross-sectional study was carried out in the city center of Kocaeli province, Western Turkey, in October-November 1998. To research help-seeking behavior in respect of secondary prevention and curative practices, we randomly selected households (N=812), interviewed the household members at their home, and recorded the reasons for visiting a pharmacy in 6 pharmacies (N=1,331 visits to pharmacy) in the Kocaeli region. RESULTS: The majority of interviewed people knew the meaning and importance of regular medical checkups, and only 7% had never underwent periodic checkups, mainly because of the lack of interest or time. Self-medication was found to be the dominant mode of help-seeking behavior, especially in the case of pain. The proportion of unprescribed to prescribed drugs was 1:1.75, with analgetics, antipyretics, expectorants, and antitussives as the most commonly requested unprescribed drugs. CONCLUSION: A considerable amount of health care occured within the popular sector, with self-medication and pharmacist's advice as dominant modes of behavior. The health care system should take this into account when planning activities aimed at detection of disease. (+info)