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Biomedical subjects

H Erdem

Publications and source records attributed to H Erdem.

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

Clinical observations in autosomal recessive spastic paraplegia in childhood and further evidence for genetic heterogeneity.

Among our 23 families (32 cases) with autosomal recessive hereditary spastic paraplegia (AR-HSP) all presenting in childhood, 9 families had the "pure" form. Occasional patients with this form had upper extremity hyperreflexia, pes cavus and sphincter disturbances, even at the early stages. Fourteen families were classified as the "complicated" types which manifested with mental retardation and cerebellar abnormalities. The evolution and severity was variable, but was generally consistent within families. Carriers (parents) did not manifest any signs. A total of 5 multiplex families with "complicated" type were used to test for a genetic heterogeneity to the region on chromosome 8p12-q13 where the "pure" AR-HSP has been mapped previously. No evidence in favor of linkage was detected in 3 of our families, thus we further supported genetic heterogeneity for AR-HSP.

Adolescent↗
PubMed1997

Dental caries and Cariostat test in preschool children.

The aim of this study was to investigate the caries status and susceptibility of children in preschool age. Sixty one children ages between 3 to 5 years (mean age 4.38 +/- 0.71) participated in this study. Caries status was assessed according to WHO criteria, and caries susceptibility by using the Cariostat test. The mean df-t was found to be 2.28 +/- 0.71 (df-s 6.26 +/- 11.92) and 31 children were caries-free. Cariostat scores were 1.75, 2.00, 2.16 in the 3, 4, and 5 year age groups respectively. There were no significant differences in caries status or Cariostat scores between boys and girls. The df-t for the 5 year age group was significantly higher than that for the 3 year age groups (p < 0.05). The test found 77% of the children to have a high caries risk (Cariostat score > 2.0).

Age Distribution↗
PubMed1995

Parafalxial empyemas (two cases).

Intracranial infections can locate at anywhere in the brain. Subdural empyemas are the less common type of intracranial infections, and parafalxial localization is seen rare. Findings of intracranial pressure increase developed in a cases who were treated for purulent meningitis. Parafalxial empyemas were diagnosed in succeeding cranial computed tomography. Middle line was drained by means of craniotomy or burrhole. We reported two cases who recovered without any postoperative sequel considered the rare localization site of infection.

Adolescent↗
PubMed1994

Allele frequencies of Mp6D-9 and GATT markers in 32 Turkish cystic fibrosis families.

The allele frequency of GATT and Mp6D-9 markers was investigated in 32 cystic fibrosis (CF) families. The GATT6 allele was found to be significantly associated with the delta F508 mutation. The Mp6D-9 allele 2/GATT6 haplotype was the major haplotype of the mutant alleles. Further analysis of CF alleles for population-specific mutations is underway so that a more direct approach can be taken, especially for families seeking prenatal diagnosis.

Alleles↗
PubMed1993

Mutation analysis in Turkish phenylketonuria patients.

Forty-four classical PKU patients have been screened for various mutations. The newly identified IVS 10 splicing mutation was found in 32% of the mutant alleles and comprises 74.5% of the mutations that could be typed: 261arg-gln (6.8%), 158arg-gly (2.3%), 252arg-trp (1.1%), 280glu-lys (-), and 272gly-stop (-) were the other mutations that were screened.

Alleles↗
PubMed1987

Chronic subdural hematomas (clinical analysis).

In this study 43 diagnosed and operated chronic subdural hematomas events analysed clinically in the Neurosurgical Department of Atatürk University Erzurum, Turkey. 60.4% of the patients were found to be under 60 years of age. The most frequent findings were pathological reflexes, and hemiparesis at the rates of 58.1% and 50.4% respectively. All of operations were performed using the burr-hole craniostomy and closed system drainage technique.

Brain Injuries↗
PubMedDate not supplied

Study of 12 mutations in Turkish cystic fibrosis patients.

67 unrelated cystic fibrosis (CF) patients were screened for some of the most common mutations of the CFTR gene. This analysis resulted in the identification of 34.6% of all CF alleles. The most common mutation is delta F508 (28.4%). Two other mutations account for a further 6.7% of the alleles (R347H: 3.0%; N1303K: 3.7%). 1677delTA, G542X, G551D, S549N/I, R553X, L558S, R334W, and R297Q were not detected.

Adolescent↗
PubMedDate not supplied

Analysis of delta F508 mutation in cystic fibrosis pathology specimens.

Incidence of delta F508, a severe mutation of the CFTR gene is found to be 36.3% in paraffin block cystic fibrosis liver tissues. Samples are histologically grouped according to severity of pancreatic involvement. Two families where delta F508 was detected postmortem and who have no living children, will have the chance for a prenatal diagnosis in the future pregnancies.

Age Factors↗
PubMedDate not supplied

Dermographism and atopy in patients with Behçet's disease.

Dermographism is the appearance of whealing and erythema within minutes in a site where skin has been exposed to pressure or mechanical irritation. In our clinical observations, dermographism seems to be frequent in patients with Behçet's disease. Since the prevalence of allergic responses is reportedly increased in vasculitic syndromes, we aimed to assess dermographism and atopy in a group of Behçet's patients. The study group comprised 30 consecutive patients with Behçet's disease. The study was carried out in two parts: elicited dermographism and atopy tests. In the first part, dermographism was investigated in the study group (Behçet's patients) and 230 healthy controls. In the second part, the study group, 30 healthy controls and 17 patients with allergic bronchial asthma were evaluated for specific and nonspecific atopy. Dermographism was found to be increased in patients with Behçet's disease. Peripheral blood eosinophil count, serum total IgE and nasal eosinophil scores were similar in patients with Behçet's disease and healthy controls. Although blood eosinophil count and serum total IgE levels were higher in allergic bronchial asthma patients than in Behçet's patients, the difference was significant only in the former. Skin prick test was positive in three of the patients with Behçet's disease and in six healthy controls. The difference was statistically insignificant (p > 0.05). None of the Behçet's disease patients had pathergy or a pathergy-like reaction at the site of the skin prick test after 48 h. In conclusion, our results confirm the general impression that dermographism is common in patients suffering from Behçet's disease.

Adult↗
PubMedDate not supplied

Molecular genetic analyses of cystinuria type 1 in 24 Turkish patients.

M467T mutation (exon 8) in rBAT gene is found to be the most common mutation in cystinuria type I patients. In our series consisting of 24 patients, the allele frequency of the M467T mutation was 8.3 percent (4/48). The second most frequent mutation at the same nucleotide position was M467K, with an allele frequency of 4.2 percent (2/48). The polymorphism which is found in linkage disequilibrium with the M467T is 231T/A (exon 1). We also found that 231T/A was associated with the M467T mutation in our series.

Amino Acid Transport Systems, Basic↗
PubMedDate not supplied

Quantitative motor unit potential analysis in routine.

This article is a review of the generation of the motor unit potential and modern techniques for its quantification. General comments are made on findings in neurogenic and myopathic conditions. Detailed examples are given from two pathological conditions, ALS and polymyositis. Quantitative parameters are presented and the usefulness of outliers compared to mean values is discussed.

Diagnostic Tests, Routine↗
PubMedDate not supplied

Vascular endothelial growth factor and monocyte chemoattractant protein-1 in Behçet's patients with venous thrombosis.

OBJECTIVE: Vascular lesions can involve both arterial and venous systems which are often the major causes complicating the disease course of Behçet's disease (BD). Vascular endothelial growth factor (VEGF) is a stimulant of angiogenesis secondary to ischemia while monocyte chemoattractant protein 1 (MCP-1) is induced by shear stresses leading to vascular collateral development. MCP-1 has been also shown to contribute to the recanalization of venous thrombi. Tumor necrosis factor-alpha (TNF-alpha) is known to play a major role in the pathogenesis of BD. Furthermore, up-regulation of secreted MCP-1 and VEGF was observed following stimulation with TNF-alpha. In view of the above functions of VEGF, MCP-1 and TNF-alpha, we hypothesized that these factors may be important in the pathogenesis of thrombosis seen in BD. METHODS: A total of 36 patients with a diagnosis of BD were studied. BD patients were separated into 3 groups with respect to vascular involvement. Group BD-AT (n = 9) with acute thrombosis, BD-CT (n = 12) with chronic thrombosis and BD-MC (n = 15) with mucocutaneous involvement only. The control group (group H) was comprised of 20 healthy persons. In addition, patients with acute, DC-AT (n= 11) and patients with chronic DC-CT (n = 9) thrombosis without BD served as disease controls. Serum measurements of VEGF MCP-1 and TNF-alpha were performed by quantitative sandwich ELISA. The acute phase reactants, including erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were also measured. RESULTS: The levels of VEGF were significantly higher in the patients in group BD-AT than either in group BD-CT or BD-MC (p = 0.03 and p < 0.001, respectively). However, no significant difference was found for VEGF levels of thrombotic patients regarding the cause (BD-AT vs. DC-AT, p = 0.063; BD-CT vs. DC-CT, p = 0.084) or the stage of thrombosis (DC-AT vs. DC-CT, p > 0.05). Both BD patients and disease controls with acute thrombosis had significantly higher levels of MCP-1 as compared to corresponding chronic thrombosis patients (BD-AT vs. DC-CT; p < 0.001; DC-AT vs. DC-CT, p < 0.001). Patients with BD and disease controls had significantly higher serum TNF-alpha level when compared with healthy subjects. No significant difference with respect to serum TNF-alpha level was noted when patient subgroups with BD and disease controls were compared with each other Serum levels of VEGF, MCP-1, and TNF-alpha were not found to be correlated with either ESR or CRP (p > 0.05). CONCLUSIONS: Increased levels of VEGF and MCP-1 detected in BD thrombosis suggest the possible role of those angiogenic cytokines in the pathogenesis. Although not specific for BD, detection of VEGF or MCP-1 levels seems to serve as an assay for differentiation of BD patients with acute thrombosis from chronic.

Acute Disease↗
PubMedDate not supplied

The proportional Venn diagram of Behçet's disease-related manifestations among young adult men in Turkey.

OBJECTIVES: To determine the frequency of the features associated with Behçet's disease (BD) in a young men population and generate a proportional Venn diagram of those features. METHODS: Data was collected from 3714 otherwise healthy men recruited for military service at the entrance. Study was conducted in a two-step procedure. Firstly, all participants were questioned by a general practitioner via using visual Behçet's questionnaire. Those participants, in whom at least one BD-related manifestation of the disease (oral ulcer, genital ulcer, folliculitis, erythema nodosum, uveitis, venous involvement of the lower extremities) have been demonstrated, were further examined by a rheumatologist at the second-stage of the study. RESULTS: The areas of intersection among the 6 individual BD-related manifestations produced 63 mutually exclusive symptom groups. Sixteen out 63 of these groups were functionally operative in our study population. Forty-seven (1.2%) of the all participants were considered to have at least 1 of the BD-related manifestation after examined by rheumatologist. The prevalence rates of the individual manifestations among the study population were as follows; oral ulcer 29 (0.78%), folliculitis 31 (0.83%), genital ulcer 9 (0.24%), venous involvement 13 (0.35%), erythema nodosum 4 (0.10%) and uveitis 3 (0.08%). The group consisting of oral ulcer with folliculitis was the largest proportion of participants followed by the group having oral ulcer only, accounting for 0.29% and 0.18%, respectively. Four (0.1%) of the participants were fulfilled the International Study Group for BD criteria following rheumatologic and ophthalmologic examinations. After excluding the group having oral ulcer with folliculitis, additional 12 cases had features suggesting BD though they didn't fulfill the International Study Group for BD criteria. CONCLUSION: The Venn diagram of this study demonstrates that International Study Group for BD criteria can detect almost the quarter of 16 cases suspected as having BD. We suggest that the application of information regarding the frequencies of individual BD-related manifestations and their association with each other in a general population might serve as a helpful tool for physicians while making diagnosis.

Adult↗
PubMedDate not supplied

Frequency of the IVS-10nt546 mutation in 44 Turkish phenylketonuria patients.

The newly identified point mutation in intron 10 of the phenylalanine hydroxylase gene activates a cryptic splice site and results in an in-frame insertion of nine nucleotides between exons 10 and 11 of the processed transcript. This mutation is observed in association with haplotype 6 of phenylketonuria chromosomes. Since in Turkey, haplotype 6 is observed in 40 percent of mutant phenylketonuria alleles, the aim of this study was to establish the incidence of this particular mutation. Forty-four classical phenylketonuria patients were studied and the frequency of the intron 10 splicing mutation was determined to be 31 percent.

Alleles↗