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Biomedical subjects

A Karaduman

Publications and source records attributed to A Karaduman.

At least 19 recordsLinked to original sources
PubMed2006

Cutaneous mastocytosis: demographic aspects and clinical features of 55 patients.

BACKGROUND: Mastocytosis is a rare, heterogeneous group of disorder with abnormal increase of mast cells in one or more organ systems. OBJECTIVE: To evaluate the demographic and clinical features of cutaneous mastocytosis (CM). METHODS: Records of 55 patients with cutaneous mastocytosis were retrospectively analysed. RESULTS: Of the 22 females and 33 males, 80% had urticaria pigmentosa/maculopapular CM and 20% had mastocytoma. Of all cases, 81.8% had first lesions in childhood. The most common presentation was involvement of trunk together with extremities. Thirteen (23.6%) patients had history of bulla; Darier's sign was positive in 34 of 38 patients. Itching was the most common complaint, provocated by hot weather/bath. CONCLUSION: Clinical presentations of urticaria pigmentosa/maculopapular CM and mastocytoma are similar regarding gender, age of onset, age of diagnosis, and presence of Darier's sign and history of bulla. In contrast to mastocytoma, urticaria pigmentosa/maculopapular CM lesions were frequently located on trunk together with extremities.

Adolescent↗
PubMed2005

Acute aortic dissection provoked by sneeze: a case report.

The response of the abdominal viscera and the contraction of the intercostal muscles during the respiratory phase of sneezing increases intrathoracic pressure, which may lead to several complications. However, there are no reports in the literature concerning aortic dissection after sneezing. We report a patient in whom the development of dissection was secondary to sneezing, although hypertension was present as a risk factor, and we discuss the relationship between sneezing and aortic dissection. To our knowledge, this is the first report of aortic dissection provoked by sneezing in the literature.

Acute Disease↗
PubMed2004

Prednisolone therapy in Duchenne muscular dystrophy prolongs ambulation and prevents scoliosis.

Steroids may have a beneficial effect on the course of Duchenne muscular dystrophy (DMD). However, results vary in different studies. This study consisted of 66 DMD boys who were in the therapy group and 22 DMD boys in the control group. The mean ages were 6.8 +/- 2.1 years (range 2.5-12.5) and 7.0 +/- 1.3 years (range 5.0-9.0), respectively. We assessed muscle strength, 10-m walking, ankle contracture, and loss of independent walking ability age and onset of scoliosis. Treatment regimen was oral prednisolone 0.75 mg/kg on alternate days, plus vitamin D 600-1200 units/day and a calcium-enriched diet. After a follow-up period of 2.75 +/- 1.1 years (range 1.5-5) and when compared with controls, there was a statistically significant change in muscle strength between the two groups after 12 months (P < 0.05). Although 10-m walking time decreased in therapy group (P < 0.05), there was not significance between the groups in the end. Boys in the control group developed significantly less ankle contractures (P < 0.05). None of the therapy group had scoliosis during the follow-up period (mean age 10.8 +/- 1.2 years), whereas seven boys of the control group had scoliosis at a mean age of 11.7 +/- 2 years. Loss of walking ability age was statistically different between groups (P < 0.05). Our results indicate that, alternate-day prednisolone regimen may prolong ambulation and scoliosis can be delayed or prevented.

Adolescent↗
PubMed2003

Analgesic intolerance with or without bronchial asthma: is there a marker?

BACKGROUND: The prevalence of analgesic intolerance (AI) is less than 1% in the general population and about 10% in adult asthmatics, in whom the disease tends to be more severe. OBJECTIVE: A possible clinical-laboratory marker was sought that would differentiate patients who have AI with/without asthma, AI with asthma, and AI without asthma from the healthy subjects. METHODS: In the survey, 66 analgesic-intolerant patients (36 having asthma) were compared with 50 healthy subjects using a nickel patch-test, 65 patients (39 having asthma) with 55 healthy subjects for the presence of a genetic marker (A38G and A444C SNPs in CC16 and LTC4S genes), and 32 patients (14 having asthma) with 118 healthy subjects for presence and frequency of human leukocyte antigens (HLA). RESULTS: The mean age of the patients with AI with/without asthma and the healthy subjects for the nickel patch-test group, genetic marker group, and the HLA group was 39.8 +/- 10.5 and 33.3 +/- 11.1, 41.5 +/- 11.6 and 38.1 +/- 13.4, and 39.4 +/- 12.5 and 41 +/- 2.6, respectively. The frequency of the females in the same groups, in the same order, was 72.7% and 54%, 81.5% and 62%, and 71.9% and 59.3%, respectively. The frequency of positive nickel patch-test results and the A38G and A444C frequency in CC16 and LTC4S genes were not significantly different (p > 0.05). The frequency of HLA antigens HLA-A3, -B52, -DR16, -DQ5, -DQ8 and -DQ9 were significantly higher; and -A24, -B35, -B44, -DQ6 and -DQ7 were significantly lower in the AI group with/without asthma compared to the control group (p < 0.05). CONCLUSION: As a result, nickel patch-test positivity and the genes which we have studied do not seem to be markers for AI with/without asthma. However, there might be a relation between AI with/without asthma and the types of the HLA system. Further surveys are needed with other genes and possible markers.

Adult↗
PubMed2001

Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.

Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive form of nonbullous congenital ichthyosiform erythroderma (NCIE) that is characterized by the presence of intracellular lipid droplets in most tissues. We previously localized a gene for a subset of NCIE to chromosome 3 (designated "the NCIE2 locus"), in six families. Lipid droplets were found in five of these six families, suggesting a diagnosis of CDS. Four additional families selected on the basis of a confirmed diagnosis of CDS also showed linkage to the NCIE2 locus. Linkage-disequilibrium analysis of these families, all from the Mediterranean basin, allowed us to refine the NCIE2 locus to an approximately 1.3-Mb region. Candidate genes from the interval were screened, and eight distinct mutations in the recently identified CGI-58 gene were found in 13 patients from these nine families. The spectrum of gene variants included insertion, deletion, splice-site, and point mutations. The CGI-58 protein belongs to a large family of proteins characterized by an alpha/beta hydrolase fold. CGI-58 contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. Interestingly, CGI-58 differs from other members of the esterase/lipase/thioesterase subfamily in that its putative catalytic triad contains an asparagine in place of the usual serine residue.

1-Acylglycerol-3-Phosphate O-Acyltransferase↗
PubMed2001

Experience with calcipotriol as adjunctive treatment for vitiligo in patients who do not respond to PUVA alone: a preliminary study.

BACKGROUND: PUVA therapy remains a primary treatment for vitiligo, despite unsatisfactory results. Because of calcipotriol's reported effects on melanocytes and on immunomodulatory and inflammatory mediators we wondered whether adding calcipotriol to PUVA would be more effective than PUVA alone in treating vitiligo. OBJECTIVE: We sought to determine whether the combination of topical calcipotriol and PUVA therapy increases the responsiveness of patients with vitiligo refractory to PUVA alone. METHODS: Twenty-one patients with vitiligo refractory to previous PUVA therapy were studied. Patients received 60 sessions of PUVA 3 times a week and 0.005% topical calcipotriol twice daily. Patients were monitored for repigmentation overall and on the trunk, extremities, and acral regions. RESULTS: Starting at the median of the 17th treatment session, some degree of repigmentation was observed in 71.5% of the patients. After treatment, cosmetically acceptable overall repigmentation was observed in 29% of patients; repigmentation of lesions on the trunk, extremities, and acral region was noted in 36%, 58%, and 0% of patients, respectively. Adverse reactions were mild and tolerable. CONCLUSION: The combination of PUVA and calcipotriol may be effective therapy and should be further investigated for the treatment of vitiligo.

Adult↗
PubMed2001

Epidermolysis bullosa acquisita: clinical manifestations, microscopic findings, and surgical periodontal therapy. A case report.

BACKGROUND: Epidermolysis bullosa acquisita (EBA) is an uncommon, acquired, chronic subepidermal bullous disease. This report describes a case of EBA with gingival involvement. A 43-year-old woman with EBA was referred to our clinic for periodontal therapy because of gingival tenderness and bleeding. She has been on cyclosporin A therapy for the last 2 years. METHODS: Clinical findings were analyzed. Anterior gingivectomy operations were performed in 2 stages. The samples obtained during the surgery were examined using histopathologic, immunohistologic, and electronmicroscopic methods. Long-term effects of the surgical periodontal treatment on gingiva were evaluated both clinically and microscopically. RESULTS: The dentition displayed minimal enamel hypoplasia. Decayed, missing, and filled surfaces score was found to be elevated. Periodontal examination showed generalized diffuse gingival inflammation and gingival enlargement localized mainly to the anterior region. Nikolsky's sign was positive. However, wound healing was uneventful after the operations. Microscopic findings were similar to those obtained from the skin. Twenty-one months after the operations, Nikolsky's sign was negative and no remarkable gingival inflammation was noted. Microscopic examination revealed that the blisters were fewer in number and smaller in size. CONCLUSIONS: These results indicate that gingival tissues may also be involved in EBA. Uneventful wound healing after periodontal surgery in this case suggests that periodontal surgery can be performed in patients with EBA. Moreover, both our clinical and histopathologic findings imply that gingivectomy proves useful in maintaining gingival integrity in these patients. Our data may also suggest that the patients with EBA are highly likely to develop dental caries.

Adult↗
PubMed2001

Noonan syndrome: a case with recurrent keloid formation.

We describe a 6-year-old boy who presented with erythema and horny, follicular papules on the lateral aspects of the eyebrows and extensor surfaces of the arms. The condition was diagnosed as ulerythema ophryogenes and keratosis pilaris atrophicans faciei. The patient had the characteristic features of Noonan syndrome, including dysmorphic facial appearance, congenital heart disease, pectus excavatum, and cubitus valgus, accompanied by a tendency for keloid formation.

Child↗
PubMed2000

MEFV mutations in Behçet's disease.

Familial Mediterranean fever (FMF) and Behçet's disease (BD), both inflammatory diseases, are highly prevalent in the Middle Eastern and Mediterranean populations. FMF is a Mendelian autosomic recessive disease linked to MEFV, a gene of unknown function. BD in contrast is a polyfactorial disease associated with the major histocompatibility complex. Because FMF and BD have epidemiological similarities, we asked whether the FMF gene was implicated in BD. We screened for the common MEFV mutations a cohort of 114 chromosomes from definite BD patients [meeting the criteria of the International study group] and probable cases [meeting at least two of these criteria]. We screened in parallel an ethnically matched cohort of FMF and control chromosomes. The M694V, V726A and E148Q mutations tended to be more frequent in definite BD (2.6%, 2.6%, and 5.2%, respectively) than in controls (0%, 0%, and 2.2%). The P706 polymorphism was found in 10.5% of the probable BD chromosomes, but in only 1.6% of the controls (p=0.01). Because some MEFV mutations were more frequent in BD than in controls, we suggest that they may act as additional susceptibility factors in BD.

Africa, Northern↗
PubMed2000

Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.

Autosomal recessive ichthyosis (ARI) includes a heterogeneous group of disorders of keratinization characterized by desquamation over the whole body. Two forms largely limited to the skin have been defined: lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). A first gene for LI, transglutaminase TGM1, has been identified on chromosome 14, and a second one has been localized on chromosome 2. In a genomewide scan of nine large consanguineous families, using homozygosity mapping, two new loci for ARI were found, one for a lamellar form in a 6-cM interval on chromosome 19 and a second for an erythrodermic form in a 7.7-cM interval on chromosome 3. Linkage to one of the four loci could be demonstrated in more than half of 51 consanguineous families, most of them from the Mediterranean basin. All four loci could be excluded in the others, implying further genetic heterogeneity in this disorder. Multipoint linkage analysis gave maximal LOD scores of 11.25 at locus D19S566 and 8.53 at locus D3S3564.

Chromosome Mapping↗
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↗