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Biomedical subjects

E Demir

Publications and source records attributed to E Demir.

At least 37 records · Page 2Linked to original sources
PubMed2003

Immediate adverse reactions to immunotherapy.

BACKGROUND: Immunotherapy, which has been used since the beginning of this century, has potential adverse reactions. The purpose of this study was to evaluate immediate local and systemic reactions to allergen immunotherapy and to compare rates of adverse reactions to aluminum-adsorbed versus calcium-adsorbed allergen vaccines. METHODS: 108 cases (38 girls and 70 boys) were given allergen immunotherapy between 1997 and 2001. The following data were recorded for each patient: primary disease being treated (allergic rhinitis, asthma, or allergic rhinitis and asthma), allergic sensitivities (dust mite or grass pollen), number of injections, the stage of immunotherapy (buildup or maintenance), dilution of allergen vaccine, and type of allergen vaccine (calcium- or aluminum-adsorbed). Adverse reactions were classified as systemic or local. Local reactions were classified as hyperemia and induration less than 5 cm, more than 5 cm, itching, and pain. RESULTS: 4783 injections were evaluated in 108 subjects with allergic rhinitis (44%), asthma (40%), allergic asthma, and rhinitis (16%). Frequency of immediate systemic reaction was 0.13%. Frequency of immediate local reactions were: hyperemia and induration less than 5 cm 3%, greater than 5 cm 0.16%, local itching 0.15%, and local pain 0.2%. There was no significant difference in systemic and local reactions between calcium- and aluminum-adsorbed vaccines. Immediate local reactions were more frequent during maintenance therapy compared to buildup. Subjects were more likely to have local reactions during maintenance therapy if they had allergic rhinitis (p < 0.05) or were receiving grass pollen vaccine (p < 0.01). CONCLUSION: Immediate adverse reactions were uncommon when given to children with asthma and allergic rhinitis. Aluminium- and calcium-adsorbed allergen vaccines showed similar rates of systemic and local reactions.

Adolescent↗
PubMed2002

Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia.

Most cases of dopa-responsive dystonia (DRD) are thought to be caused by mutations in the GCHI gene; however, by sequencing, mutations are found in only 40% to 60%. Recently, a single report identified, via Southern blot analysis, a large genomic GCHI deletion in a "mutation-negative" case. This report describes four families with DRD, two of which carry large deletions, thus confirming that deletions are an important subtype of GCHI mutations. These deletions were detected by quantitative duplex PCR that is amenable to DNA diagnostics.

Adult↗
PubMed2002

Efficacy of low power laser therapy in fibromyalgia: a single-blind, placebo-controlled trial.

Low energy lasers are widely used to treat a variety of musculoskeletal conditions including fibromyalgia, despite the lack of scientific evidence to support its efficacy. A randomised, single-blind, placebo-controlled study was conducted to evaluate the efficacy of low-energy laser therapy in 40 female patients with fibromyalgia. Patients with fibromyalgia were randomly allocated to active (Ga-As) laser or placebo laser treatment daily for two weeks except weekends. Both the laser and placebo laser groups were evaluated for the improvement in pain, number of tender points, skinfold tenderness, stiffness, sleep disturbance, fatigue, and muscular spasm. In both groups, significant improvements were achieved in all parameters (p<0.05) except sleep disturbance, fatigue and skinfold tenderness in the placebo laser group (p>0.05). It was found that there was no significant difference between the two groups with respect to all parameters before therapy whereas a significant difference was observed in parameters as pain, muscle spasm, morning stiffness and tender point numbers in favour of laser group after therapy (p<0.05). None of the participants reported any side effects. Our study suggests that laser therapy is effective on pain, muscle spasm, morning stiffness, and total tender point number in fibromyalgia and suggests that this therapy method is a safe and effective way of treatment in the cases with fibromyalgia.

Female↗
PubMed2002

[The Epping resection-suspension arthroplasty procedure. A standard procedure in the operative treatment of trapeziometacarpal osteoarthrosis?].

The surgical treatment of painful osteoarthrosis of the trapeziometacarpal joint with the Epping technique consists of excision of the trapezium and reconstruction of the first intermetacarpal ligament by using the distally based half of the flexor carpi radialis tendon. This ligament reconstruction procedure aims to prevent proximal migration of the first metacarpal, restore function and stability of the neoarthros. This retrospective study presents operative outcome results after using the Epping arthroplasty technique. The Epping technique has been performed in seventy cases and could be evaluated after a mean follow-up of 34.6 months in 92.4 % of all operated patients. Subjective results were evaluated using patient-based questionnaires such as the Buck-Gramcko-Score and the German Version of the DASH V2.0 questionnaire. Objective and functional outcome analysis including range of motion, strength measurements with the computer-based JAMAR dynamometer and various X-ray views, have been used as further methods of evaluation. Excellent pain relief and very good subjective results with 86 % patient satisfaction have been reported by our patients. The objective outcome analysis demonstrated good functional results with respect to radial abduction (51 degrees) and palmar flexion (45 degrees), and improvement in grip strength, key pinch and pulp pinch. Some patients reported remaining problems with pain during performance of activities of daily life and professional activities. A significant proximal metacarpal migration without correlation to the objective or subjective outcome was found in follow-up X-ray controls. The Epping ligament reconstruction procedure has proven to be a valuable standard procedure after a mid-term follow-up period. Good functional outcome and high patient satisfaction could be achieved, but some patients still remain with problems in different activities. Long-term results still need to be evaluated.

Adult↗
PubMed2002

PATIKA: an integrated visual environment for collaborative construction and analysis of cellular pathways.

MOTIVATION: Availability of the sequences of entire genomes shifts the scientific curiosity towards the identification of function of the genomes in large scale as in genome studies. In the near future, data produced about cellular processes at molecular level will accumulate with an accelerating rate as a result of proteomics studies. In this regard, it is essential to develop tools for storing, integrating, accessing, and analyzing this data effectively. RESULTS: We define an ontology for a comprehensive representation of cellular events. The ontology presented here enables integration of fragmented or incomplete pathway information and supports manipulation and incorporation of the stored data, as well as multiple levels of abstraction. Based on this ontology, we present the architecture of an integrated environment named Patika (Pathway Analysis Tool for Integration and Knowledge Acquisition). Patika is composed of a server-side, scalable, object-oriented database and client-side editors to provide an integrated, multi-user environment for visualizing and manipulating network of cellular events. This tool features automated pathway layout, functional computation support, advanced querying and a user-friendly graphical interface. We expect that Patika will be a valuable tool for rapid knowledge acquisition, microarray generated large-scale data interpretation, disease gene identification, and drug development. AVAILABILITY: A prototype of Patika is available upon request from the authors.

Cell Physiological Phenomena↗
PubMed2001

Influence of inhaled steroids on pulmonary epithelial permeability to Tc99m-dTPA in atopic asthmatic children.

The lung permeability of asthmatic children has been reported to be similar, lower, or higher than that of healthy subjects. The aim of this study was to clarify these discrepancies and also assess the effect of inhaled steroids on lung permeability. Tc99m-diethylenetriaminepentaaceticacid (Tc99m-DTPA) clearance in children with mild unstable asthma (n = 13; mean age 9.3 +/- 0.7 years) was compared with that of a group of healthy subjects (n = 11; mean age 8.9 +/- 0.8 years). Symptom scores, forced-expiratory volume in the first second (FEV1), and peak expiratory flow rate variability (PEFR-v) of asthmatics were recorded and an inhaled steroid (budesonid) was recommended after first scintigraphic evaluation for 8 weeks. Two consecutive scintigraphic studies were performed before and after treatment. Symptoms, FEV1, and PEFR-v significantly improved throughout the study. Baseline DTPA clearance rate in the asthmatics was significantly higher from that of control group (1.3 +/- 0.2 and 0.7 +/- 0.1%/min, respectively) (p < 0.05). DTPA clearance rate of asthmatics significantly increased to 1.7 +/- 0.3%/min at end of inhaled therapy (p < 0.05). Our data show that DTPA clearance in unstable asthmatic children is significantly higher than that found in healthy subjects, and that a higher rate was obtained following inhaled steroid therapy. Thus, the clinical significance of these observations needs further studies to test whether DTPA clearance index is a valid tool for monitoring asthmatic children and to explore the mechanisms involved in radioaerosol clearance rates in pediatric asthma.

Administration, Inhalation↗
PubMed2000

Weight gain associated with valproate in childhood.

Weight gain is a common side effect of valproate treatment. Several mechanisms have been suggested for its pathophysiology; of these, impairment of beta-oxidation of fatty acids and increased insulin secretion have been supported by clinical studies. To investigate whether changes in carnitine and insulin levels had a role in the weight gain occurring with valproate treatment in children, 20 patients with epilepsy were randomly assigned to receive either carnitine or placebo supplementation in addition to valproate. After a follow-up period of 3 months, weight gain was observed in both groups. The mean insulin concentration and insulin/glucose ratios increased. Weight gain did not correlate with carnitine levels. These results suggest that weight gain during valproate treatment is not related to a decrease in carnitine levels. However, an increase in insulin levels together with a decrease in glucose levels may cause weight gain, possibly by stimulating appetite.

Adolescent↗
PubMed2000

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.

Disorganization of the neurofilament network is a prominent feature of several neurodegenerative disorders including amyotrophic lateral sclerosis (ALS), infantile spinal muscular atrophy and axonal Charcot-Marie-Tooth disease. Giant axonal neuropathy (GAN, MIM 256850), a severe, autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system, is characterized by neurofilament accumulation, leading to segmental distension of the axons. GAN corresponds to a generalized disorganization of the cytoskeletal intermediate filaments (IFs), to which neurofilaments belong, as abnormal aggregation of multiple tissue-specific IFs has been reported: vimentin in endothelial cells, Schwann cells and cultured skin fibroblasts, and glial fibrillary acidic protein (GFAP) in astrocytes. Keratin IFs also seem to be alterated, as most patients present characteristic curly or kinky hairs. We report here identification of the gene GAN, which encodes a novel, ubiquitously expressed protein we have named gigaxonin. We found one frameshift, four nonsense and nine missense mutations in GAN of GAN patients. Gigaxonin is composed of an amino-terminal BTB (for Broad-Complex, Tramtrack and Bric a brac) domain followed by a six kelch repeats, which are predicted to adopt a beta-propeller shape. Distantly related proteins sharing a similar domain organization have various functions associated with the cytoskeleton, predicting that gigaxonin is a novel and distinct cytoskeletal protein that may represent a general pathological target for other neurodegenerative disorders with alterations in the neurofilament network.

Abnormalities, Multiple↗
PubMed2000

Giant axonal neuropathy locus refinement to a < 590 kb critical interval.

Giant axonal neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder, characterised clinically by the development of chronic distal polyneuropathy during childhood, mental retardation, kinky or curly hair, skeletal abnormalities and, ultrastructurally, by axons in the central and peripheral nervous systems distended by masses of tightly woven neurofilaments. We recently localised the GAN locus in 16q24.1 to a 5-cM interval between the D16S507 and D16S511 markers by homozygosity mapping in three consanguineous Tunisian families. We have now established a contig-based physical map of the region comprising YACs and BACs where we have placed four genes, ten ESTs, three STSs and two additional microsatellite markers, and where we have identified six new SSCP polymorphisms and six new microsatellite markers. Using these markers, we have refined the position of our previous flanking recombinants. We also identified a shared haplotype between two Tunisian families and a small region of homozygosity in a Turkish family with distant consanguinity, both suggesting the occurrence of historic recombinations and supporting the conclusions based on the phase-known recombinations. Taken together, these results allow us to establish a transcription map of the region, and to narrow down the GAN position to a < 590 kb critical interval, an important step toward the identification of the defective gene.

Axons↗
PubMed2000

A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families.

Limb-girdle muscular dystrophies constitute a broad range of clinical and genetic entities. We have evaluated 38 autosomal recessive limb-girdle muscular dystrophy (LGMD2) families by linkage analysis for the known loci of LGMD2A-F and protein studies using immunofluorescence and western blotting of the sarcoglycan complex. One index case in each family was investigated thoroughly. The age of onset and the current ages were between 11/2 and 15 years and 6 and 36 years, respectively. The classification of families was as follows: calpainopathy 7, dysferlinopathy 3, alpha sarcoglycan deficiency 2, beta sarcoglycan deficiency 7, gamma sarcoglycan deficiency 5, delta sarcoglycan deficiency 1, and merosinopathy 2. There were two families showing an Emery-Dreifuss phenotype and nine showing no linkage to the LGMD2A-F loci, and they had preserved sarcoglycans. gamma sarcoglycan deficiency seems to be the most severe group as a whole, whereas dysferlinopathy is the mildest. Interfamilial variation was not uncommon. Cardiomyopathy was not present in any of the families. In sarcoglycan deficiencies, sarcoglycans other than the primary ones may also be considerably reduced; however, this may not be reflected in the phenotype. Many cases of primary gamma sarcoglycan deficiency showed normal or only mildly abnormal delta sarcoglycan staining.

Adolescent↗
PubMed2000

Effect of alendronate treatment on the clinical picture and bone turnover markers in chronic idiopathic hyperphosphatasia.

Chronic idiopathic hyperphosphatasia (CIH), also known as juvenile Paget's disease, is characterized by increased bone turnover, persistently elevated serum alkaline phosphatase concentrations and progressive bone deformities. The pathogenesis of the disease is unknown. Currently, there is no specific treatment and agents that reduce bone turnover have been tried in some cases with limited success. In this report, we present our experience with alendronate treatment in a 17 year-old boy with CIH. Ten weeks of treatment with alendronate resulted in marked clinical improvement and normalization of serum alkaline phosphatase activity. Serum osteocalcin and urinary deoxypyridinoline levels were decreased approximately 50% compared to pretreatment values, indicating decreased bone turnover rate. Alendronate seems to be a promising and safe agent for treatment of CIH.

Adolescent↗
PubMed1999

Clinical and genetic correlate in childhood onset Friedreich ataxia.

We analyzed the clinical and genetic aspects of 28 FRDA patients from 20 families. 19 families were consanguineous. The onset was between 4 and 13 1/2 years of age (mean 15.4 +/- 6.2). Three patients presented with cardiomyopathy, one with weakness, and the rest with ataxia. There were two patients with preserved lower-limb deep tendon reflexes. Sensory nerve action potentials were reduced in 14/14 patients. Cardiac echograms were abnormal in 17/19 cases, and this was between 6 and 16 years of age (mean 10.1 +/- 3.5). Four families were multiplex. Clinical intra-familial variability was observed. Increased GAA repeats of the X25 gene were found in 27/28 patients studied, all in a homozygous state. 88.9% of patients had a smaller allele larger than 500 repeats, and 66.7% had more than 700 repeats. The patient who did not have increased GAA repeats in both alleles had peculiar findings. Significant correlation of expansion was obtained for the early onset, and cardiomyopathy as the onset.

Action Potentials↗
PubMed1997

A new case of oculocerebral hypopigmentation syndrome (Cross syndrome) with additional findings.

Cross syndrome is a rare syndrome characterized by ocular and cutaneous hypopigmentation and neurological manifestations. A few reports have been published since 1967. In this report, we present a new case of Cross syndrome with additional findings such as urinary tract abnormality, bilateral inguinal hernia, focal interventricular septal hypertrophy of the heart and vacuolization of myeloid series cells and distinct ultrastructural features of the skin.

Cardiomegaly↗
PubMed1996

Childhood asthma and atmospheric conditions.

Bronchial asthma is the most common chronic respiratory illness in childhood. It is characterized by paroxysmal bronchospastic periods. There are many studies giving reasons to explain the bronchospasm periods. One of the reasons, atmospheric conditions, is effective in creating a clinical picture of asthmatic patients. In the present study, the correlation between atmospheric conditions and asthmatic symptoms in children was investigated using peak expiratory flow rate (PEFR) as the respiratory function test. Twenty-one children with bronchial asthma were monitored in the study. They were followed as outpatients of the Ege University Medical Faculty, Department of Pediatric Allergy and Pneumotology, between November 1993 and June 1994. Atmospheric conditions were recorded from the local meteorology center. Complaints and the PEFR of children were compared with the meteorological data. Asthmatic symptoms were increased by low temperatures in all asthmatic children. An increase was detected in the extrinsic group by relative humidity and ratio of cloud, but in the intrinsic group only by relative humidity.

Adolescent↗
PubMed1994

Infantile spasms as the initial symptom of biotinidase deficiency.

Two patients with biotinidase deficiency had diagnoses of infantile spasms made at 1 month of age. Biotinidase deficiency may be seen early in the neonatal period without the characteristic findings such as alopecia and seborrheic dermatitis. This diagnosis should be considered in patients with infantile spasms.

Amidohydrolases↗
PubMedDate not supplied

The evaluation of late sequelae of tetanus infection.

Tetanus is still an important cause of morbidity and mortality in developing countries. Fifty two patients with tetanus were admitted within a 15 year period to our hospital, and 24 of them died. The remaining cases were called for re-evaluation 3-13 years after the infection. Only 10 cases were admitted again, and 6 of them recovered from neonatal tetanus. Their neurological examinations were unremarkable with 5 of them having mild mental retardation. Their EEG's were normal except for one case who had epileptic focus. Their visual and brainstem evoked potentials (VEP, BAEP) were measured and they were in normal ranges. Their results were compared with the results of a control group which consisted of 9 healthy children of matched age and sex.

Adolescent↗