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1.
Georgian Med News ; (345): 37-42, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38325295

RESUMO

This study assessed the effectiveness of a six-week balance exercise program on balance parameters and fall frequency in geriatric patients with frailty syndrome. This randomized prospective study evaluated a total of 216 patients after referral to a physical medicine and rehabilitation outpatient clinic. Participants were divided into group 1 (flexibility exercises) and group 2 (balance exercises, including kinesthetic ability trainer [KAT] balance exercises, and flexibility exercises). Both groups performed exercises five days per week for six weeks. Balance assessments included the Berg Balance Scale and time-up-and-go test to evaluate dynamic and functional balance, while the one-leg stand test and KAT 4000 static balance test were done to evaluate static balance. Frailty was observed in 37 (17.12%) patients. Patients without frailty syndrome initially performed significantly better (p˂0.001). Group 2 demonstrated statistically significant improvements after six weeks (p˂0.05). Long-term exercise programs improve balance parameters and exercise performance in older adults with frailty.


Assuntos
Fragilidade , Humanos , Idoso , Estudos Prospectivos , Equilíbrio Postural , Idoso Fragilizado , Estudos de Tempo e Movimento , Terapia por Exercício
2.
Balkan J Med Genet ; 23(2): 25-34, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33816069

RESUMO

Carriers of apparently balanced chromosomal rearrangements (ABCRs) have a 2-3-fold higher risk of carrying an abnormal phenotype, when compared to the average population. Apparently balanced chromosomal rearrangements can be imbalanced at the submicroscopic level, and changes in the gene structure, formation of a new chimeric gene, gain or loss of function of the genes and altered imprinting pattern may also affect the phenotype. Chromosomal microarray (CMA) is an efficient tool to detect submicroscopic imbalances at the breakpoints as well as in the whole genome. We aimed to determine the effectiveness of array-comparative genomic hybridization (aCGH) application in phenotypically affected cases with ABCRs at a single center from Turkey. Thirty-four affected cases (13 prenatal, 21 postnatal) carrying ABCRs were investigated with CMA. In postnatal series, ABCRs were familial in 7 and de novo in 14 cases. Seven de novo cases were imbalanced (in postnatal series 33.3% and in de novo cases 50.0%). Out of 13 prenatal cases, five were familial and eight were de novo in origin and two de novo cases were imbalanced (in 15.4% prenatal series and in 25.0% de novo cases). No cryptic imbalance was observed in familial cases. The anomaly rates with array studies ranged between 14.3-25.0% in familial and between 20.0-57.5% in de novo cases of postnatal series in the literature. Studies focused on prenatal ABCR cases with abnormal ultrasound findings are limited and no submicroscopic imbalance was reported in the cohorts. When de novo postnatal or prenatal results were combined, the percentage of abnormalities detected by CMA was 40.9%. Taking this contribution into consideration, all ABCRs should be investigated by CMA even if the fetal ultrasound findings are normal.

3.
J Eur Acad Dermatol Venereol ; 27(2): 254-7, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23457723

RESUMO

BACKGROUND: Acne vulgaris is a multifactorial disease of the skin. Several studies have shown that elevated levels of serum insulin-like growth factor-I (IGF-I) correlate with overproduction of sebum and acne. Recently functional relationship between IGF-I (CA) polymorphism and circulating IGF-I levels in adults has been reported. AIMS: The aim of our study was to investigate for the first time whether IGF-I (CA) polymorphism might be involved in the pathogenesis of acne or not. METHODS: We included 115 acne patients and 117 healthy subjects to the study. The clinical grade of acne was assessed based on the Global Acne Grading System. Participants were questioned about diabetes mellitus, PCOS and other systemic disease. We searched for the IGF-I (CA) 19 polymorphism in this study. The IGF-I (CA) 19 polymorphism was performed by polymerase chain reaction. RESULTS: We categorized the IGF-I (CA) 19 polymorphism area into three groups as lower than 192 bp, 192­194 bp and higher than 194 bp. We found that the frequency of genotype IGF-1 (CA) 19 gene was significantly different between control and acne patients (P = 0.0002). A significant association between IGF-I (CA) genotypes and severity of acne was found (P = 0.015). No significant difference was found between male and female patients (P > 0.05). CONCLUSIONS: Our results suggest that IGF-I (CA) 19 polymorphism may contribute to a predisposition to acne in Turkish patients.


Assuntos
Acne Vulgar/genética , Fator de Crescimento Insulin-Like I/genética , Polimorfismo Genético , Sequência de Bases , Estudos de Casos e Controles , Primers do DNA , Feminino , Humanos , Masculino , Reação em Cadeia da Polimerase
5.
J Eur Acad Dermatol Venereol ; 26(7): 889-93, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21790794

RESUMO

BACKGROUND: Plantar warts are refractory to any form of treatment. High cure rates have been reported with a topical proprietary formulation consisting of 1% cantharidin, 5% podophyllotoxin and 30% salicylic acid (CPS). However, no data exists comparing the efficacy of this formulation with another treatment. Cryotherapy is a method that is also widely used in the treatment of plantar warts. Likewise, there is no evidence that it is more effective than any topical treatment. OBJECTIVE: We aim to compare the efficacy of topical CPS and cryotherapy in the treatment of plantar warts. METHODS: Patients with plantar warts were consecutively treated with either cryotherapy or topical CPS. Both treatments were performed every 2 weeks for up to five sessions. In patients without complete clearance, the therapy was switched to the other treatment option. RESULTS: Twenty-six patients with a total of 134 warts were included. Fourteen patients were completely cleared of their warts with topical CPS, whereas only in five of 12 patients (41.7%) warts were completely cleared with cryotherapy (P=0.001). In seven patients without complete clearance, the therapy was switched to CPS. Four of these patients missed the follow-up. While the two of the remaining three patients were cleared of their warts, one patient's warts still failed to clear. CONCLUSION: Topical CPS is more effective than cryotherapy in the treatment of plantar warts.


Assuntos
Cantaridina/uso terapêutico , Crioterapia , , Podofilotoxina/uso terapêutico , Ácido Salicílico/uso terapêutico , Verrugas/tratamento farmacológico , Adolescente , Adulto , Cantaridina/administração & dosagem , Terapia Combinada , Feminino , Humanos , Masculino , Podofilotoxina/administração & dosagem , Estudos Prospectivos , Ácido Salicílico/administração & dosagem , Adulto Jovem
6.
Genet Mol Res ; 10(1): 253-60, 2011 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-21341217

RESUMO

Determination of S-allele combinations of sweet cherry genotypes and cultivars has importance for both growers and breeders. We determined S-allele combinations of 40 local Turkish sweet cherry genotypes using a PCR-based method. Ten different S-alleles were detected. Although the most common S-allele was S3, as also found in Western genotypes and cultivars, there were some differences in the frequencies of some S-alleles between Turkish and Western sweet cherry genotypes. According to their S-allele compositions, 30 local Turkish sweet cherry genotypes were assigned to 10 previously identified incompatibility groups. For the remaining genotypes, whose S-allele combinations did not fit to any previous incompatibility groups, three more incompatibility groups, XLII, XLIII and XLIV, were proposed. Results obtained from this study will help both sweet cherry growers and breeders to better manage these local Turkish sweet cherry genotypes in their orchards.


Assuntos
Prunus/genética , Alelos , Genótipo , Turquia
7.
Lupus ; 20(3): 243-9, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21138984

RESUMO

Systemic lupus erythematosus (SLE) is a clinically heterogeneous disease diagnosed on the presence of a constellation of clinical and laboratory findings. At the pathogenetic level, multiple factors using diverse biochemical and molecular pathways have been recognized. Succinct recognition and classification of clinical disease subsets, as well as the availability of disease biomarkers, remains largely unsolved. Based on information produced by the present authors' and other laboratories, a lupus gene expression array consisting of 30 genes, previously claimed to contribute to aberrant function of T cells, was developed. An additional eight genes were included as controls. Peripheral blood was obtained from 10 patients (19 samples) with SLE and six patients with rheumatoid arthritis (RA) as well as 19 healthy controls. T cell mRNA was subjected to reverse transcription and PCR, and the gene expression levels were measured. Conventional statistical analysis was performed along with principal component analysis (PCA) to capture the contribution of all genes to disease diagnosis and clinical parameters. The lupus gene expression array faithfully informed on the expression levels of genes. The recorded changes in expression reflect those reported in the literature by using a relatively small (5 ml) amount of peripheral blood. PCA of gene expression levels placed SLE samples apart from normal and RA samples regardless of disease activity. Individual principal components tended to define specific disease manifestations such as arthritis and proteinuria. Thus, a lupus gene expression array based on genes previously claimed to contribute to immune pathogenesis of SLE may define the disease, and principal components of the expression of 30 genes may define patients with specific disease manifestations.


Assuntos
Perfilação da Expressão Gênica/métodos , Lúpus Eritematoso Sistêmico/classificação , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/genética , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Adulto , Idoso , Artrite Reumatoide/genética , Feminino , Expressão Gênica , Humanos , Masculino , Pessoa de Meia-Idade
8.
Lupus ; 19(8): 997-1001, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20581021

RESUMO

We present a case of chemosis (conjunctival edema) as an early manifestation of severe systemic lupus erythematosus affecting multiple organs, including the central nervous system and the kidneys.


Assuntos
Edema/etiologia , Edema/patologia , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/patologia , Transtornos Mentais/etiologia , Adulto , Anti-Inflamatórios/uso terapêutico , Feminino , Humanos , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Transtornos Mentais/patologia , Metilprednisolona/uso terapêutico
9.
J Eur Acad Dermatol Venereol ; 24(3): 353-5, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19778359

RESUMO

BACKGROUND: Some occupations carry a risk for fungal infections. OBJECTIVE: To investigate the prevalence of onychomycosis in carpet weavers. METHODS: Seventy-seven weavers (the mean age +/- SD = 32.97 +/- 12.38) from three factories and 77 controls (the mean age +/- SD = 38.32 +/- 12.38) were examined for onychomycosis. Samples from nails and the carpets, which were being weaved, were taken for mycological investigations. RESULTS: Direct microscopic examination of only two controls' normal-appearing nails was positive. Fungal growth was observed in the culture of four weavers' normal-appearing nails. It was watched over that most of the weavers had polished-appearing nails and were using a glue containing cyanoacrylate to restore their broken nails due to weaving. CONCLUSION: The fungal growth observed in weavers' nails has been accepted as colonization. There is no data about the presence of fungi on normal-appearing nails. So, we thought that the weavers with fungal colonization should be followed for the development of onychomycosis.


Assuntos
Dermatoses do Pé/epidemiologia , Doenças Profissionais/epidemiologia , Exposição Ocupacional/efeitos adversos , Onicomicose/epidemiologia , Têxteis/efeitos adversos , Adolescente , Adulto , Idoso , Feminino , Seguimentos , Dermatoses do Pé/microbiologia , Fungos/isolamento & purificação , Humanos , Pessoa de Meia-Idade , Doenças Profissionais/microbiologia , Onicomicose/microbiologia , Prevalência , Fatores de Risco , Adulto Jovem
11.
Scand J Rheumatol ; 37(2): 135-41, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18415772

RESUMO

OBJECTIVE: We analysed the production of soluble tumour necrosis factor receptors sTNFR1 and sTNFR2 at sites of inflammation and measured their plasma concentrations to evaluate them as biological markers of disease activity. METHODS: Plasma samples of 35 patients with Behçet's disease (BD) were collected prospectively at monthly intervals and grouped for inactive disease, active BD without arthritis, and active BD with arthritis. sTNFR1 and sTNFR2 concentrations were measured using immunoassays and compared with other biological disease activity parameters. Plasma sTNFR levels were compared to synovial fluid (SF) levels in seven patients. Sixteen tissue samples of mucocutaneous lesions were stained for TNFR2 expression by immunohistochemistry. RESULTS: sTNFR1 and sTNFR2 were found at increased plasma concentrations in active BD, with the highest concentration in active BD with arthritis (p<0.001). Concentrations of both sTNFRs were at least three times higher in SF of arthritic joints than in the corresponding plasma samples (p = 0.025). A change of more than 1 ng/mL of sTNFR2 plasma concentrations correlated with a concordant change in arthritic activity (96% confidence interval). Sensitivity to change was superior to that of sTNFR1, and other biological disease activity parameters such as erythrocyte sedimentation rate (ESR), immunoglobulin (Ig)G, IgA, and interleukin (IL)-10 plasma concentrations. A strong staining for TNFR2 was found in mucocutaneous lesions, where mast cells were identified as the major source for this receptor. CONCLUSIONS: This longitudinal study demonstrates that sTNFR2 plasma concentrations are closely linked with active BD, and especially with arthritis. Taken together with the expression of TNFR molecules in mast cells of mucocutaneous lesions, our results indicate a fundamental role for the TNF/TNFR pathway in BD.


Assuntos
Artrite/metabolismo , Síndrome de Behçet/metabolismo , Articulações/metabolismo , Receptores Tipo II do Fator de Necrose Tumoral/metabolismo , Receptores Tipo I de Fatores de Necrose Tumoral/metabolismo , Pele/metabolismo , Líquido Sinovial/metabolismo , Adolescente , Adulto , Artrite/etiologia , Artrite/fisiopatologia , Síndrome de Behçet/complicações , Síndrome de Behçet/fisiopatologia , Biomarcadores/metabolismo , Sedimentação Sanguínea , Estudos Transversais , Feminino , Humanos , Imunoglobulina A/sangue , Imunoglobulina G/sangue , Interleucina-10/sangue , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Transdução de Sinais/fisiologia
12.
J Eur Acad Dermatol Venereol ; 22(2): 219-22, 2008 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-18211416

RESUMO

OBJECTIVE: Reliable assessment of severity in nail psoriasis is essential to document treatment responses in clinical trials and routine clinical usage. In this study the correlation between Nail Psoriasis Severity Index (NAPSI) and Cannavo's scoring system was assessed, and inter-rater correlation of NAPSI scores were evaluated. MATERIALS AND METHODS: Forty-five patients with nail psoriasis were included. Target nails were selected and graded by the first dermatologist with both scoring systems. The nails were reevaluated by the second dermatologist with NAPSI. RESULTS: The two systems were highly correlated (P < 0.001). For NAPSI inter-rater correlation was also significant (P < 0.001). CONCLUSION: Our results showed that the qualitative and quantitative evaluations of the same rater were similar. Although the qualitative scoring system of Cannavo's is less time consuming than NAPSI, to suggest this system inter-rater correlations should be evaluated.


Assuntos
Doenças da Unha/patologia , Psoríase/patologia , Índice de Gravidade de Doença , Humanos , Doenças da Unha/fisiopatologia , Psoríase/fisiopatologia , Reprodutibilidade dos Testes , Fatores de Tempo
13.
Clin Exp Dermatol ; 32(1): 1-5, 2007 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16824053

RESUMO

BACKGROUND: Nail involvement morphologically resembling onychomycosis frequently accompanies psoriatic lesions. The role of psoriasis as a predisposing factor for onychomycosis and the possible influence of psoriasis on responsiveness of onychomycosis to treatment are controversial. AIM: To investigate the frequency of onychomycosis, the aetiological agents responsible for it, and the efficacy of terbinafine 250 mg/day in patients with psoriasis compared with controls in order to reveal the role of psoriatic process on fungal growth. METHODS: Over a 1-year period, 168 patients with psoriasis and 164 nonpsoriatic controls were recruited. In the case of clinically suspected of fungal infection, further mycological investigations were performed. Systemic terbinafine therapy 250 mg daily for 12 weeks was administered to the patients with onychomycosis. Patients were followed up clinically and mycologically for 24 weeks. RESULTS: Onychomycosis was diagnosed in 22 patients with psoriasis (13.1% of the psoriasis group, which constituted 28.6% of patients with suspicion of onychomycosis) and 13 controls (7.9% of control group; 40.6% of controls with suspicion of onychomycosis). The prevalence rates of onychomycosis were similar in both groups. The most commonly isolated fungi were dermatophytes in the psoriasis group and nondermatophytic moulds in controls. Dermatophytes were more common in psoriatic than control nails (P = 0.02). All patients in each group were cured at the end of the therapy. CONCLUSION: It seems that nail psoriasis constitutes a risk factor not for onychomycosis, but specifically for dermatophytic nail infections. Because of the similar therapeutic results in each group, different antifungal treatment protocols may not be needed in psoriasis. However, to confirm this, new comprehensive studies are necessary.


Assuntos
Dermatoses do Pé/epidemiologia , Dermatoses da Mão/epidemiologia , Onicomicose/epidemiologia , Psoríase/complicações , Adolescente , Adulto , Idoso , Antifúngicos/uso terapêutico , Estudos de Casos e Controles , Criança , Feminino , Dermatoses do Pé/tratamento farmacológico , Dermatoses do Pé/microbiologia , Dermatoses da Mão/tratamento farmacológico , Dermatoses da Mão/microbiologia , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Fungos Mitospóricos/isolamento & purificação , Naftalenos/uso terapêutico , Onicomicose/tratamento farmacológico , Onicomicose/microbiologia , Prevalência , Estudos Prospectivos , Terbinafina
14.
J Eur Acad Dermatol Venereol ; 20(10): 1232-6, 2006 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17062037

RESUMO

BACKGROUND: Herpes simplex virus (HSV) infections are among the most common infectious diseases in humans. The prevalence of herpes simplex viruses type 1 (HSV-1) and type 2 (HSV-2) varies widely across the world. HSV-2 infection is the primary cause of genital herpes. It is highly prevalent in human populations in many parts of the world, and is the most common cause of genital ulcer disease worldwide. In spite of the large prevalence and growing incidence of herpes simplex infection (HSV-1 and HSV-2), relatively few data have been published regarding the seroprevalence of herpes simplex infection, while no data exist regarding the Turkish population. METHODS: We aimed to investigate the prevalence of HSV-1 and HSV-2 in selected populations in Turkey. A cross-sectional study was conducted involving 2082 serum samples of 725 adults, 300 pregnant women, 200 blood donors, 483 sex workers and 110 patients with genital warts and 264 hotel staff in Istanbul, Turkey. All serum samples were assessed for HSV1 and HSV-2 IgG antibodies using an HSV-type specific, enzyme-linked immunosorbent assay (ELISA). RESULTS: The prevalence of HSV-2 and HSV-1 antibodies was 4.8 and 85.3% in sexually active adults; 5.5 and 96% in blood donors; 5 and 98% in pregnant women, 17.3 and 93.6% in patients with genital warts; 8.3 and 97.3% in hotel staff; and 60% and 99% in sex workers. CONCLUSION: These results confirm a higher prevalence of HSV infection than estimated, especially in high risk groups in Turkey. The high prevalence of HSV infection underlines the need for education among these populations.


Assuntos
Herpes Simples/epidemiologia , Herpes Simples/virologia , Herpesvirus Humano 1 , Herpesvirus Humano 2 , Adolescente , Adulto , Doadores de Sangue/estatística & dados numéricos , Condiloma Acuminado/epidemiologia , Condiloma Acuminado/virologia , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Ocupações/estatística & dados numéricos , Gravidez , Fatores de Risco , Estudos Soroepidemiológicos , Trabalho Sexual/estatística & dados numéricos , Turquia/epidemiologia
17.
Clin Exp Dermatol ; 31(2): 212-4, 2006 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-16487093

RESUMO

'Tinea corporis gladiatorum' describes a dermatophytosis transmitted mainly from close skin contact among wrestlers. Although tinea corporis is well recognized, no data are available for tinea capitis infections in wrestlers. After finding tinea capitis infection in a student wrestler, we aimed to search for possible ringworm infections among wrestlers in a wrestling boarding-school. Of the 32 wrestlers, 29, aged 12-18 years, were affected, of whom 22 had scalp involvement. Trichophyton tonsurans was isolated from 20 of the patients, and T. mentagrophytes from the remaining two. Isolated strains of dermatophytes were susceptible to terbinafine and itraconazole. The patients with tinea capitis received oral terbinafine for 4 weeks, and patients with more than two lesions but without scalp involvement received oral terbinafine for 2 weeks. Overall clinical and mycological cure rate was 72.4% and 70%, respectively, at assessment at week 6. The asymptomatic dermatophyte carrier rate was negative 1 year after control of the epidemic. Terbinafine seems to be an alternative drug for the treatment of tinea capitis caused by T. tonsurans; however, control of an outbreak may be very difficult and effective preventive measures should be considered.


Assuntos
Surtos de Doenças , Tinha do Couro Cabeludo/epidemiologia , Luta Romana , Adolescente , Antifúngicos/administração & dosagem , Criança , Humanos , Imidazóis/administração & dosagem , Masculino , Naftalenos/administração & dosagem , Terbinafina , Tinha do Couro Cabeludo/tratamento farmacológico , Tinha Favosa/tratamento farmacológico , Tinha Favosa/epidemiologia , Trichophyton
19.
Rheumatol Int ; 26(1): 7-11, 2005 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-15322815

RESUMO

In order to evaluate the role of human parvovirus B19 in the etiopathogenesis of autoimmune diseases such as rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE), synovial fluid and blood specimens were collected at 1-month intervals from 20 patients with early synovitis (ES) and 31 with RA. Blood specimens were also collected from 25 patients with SLE, 25 with osteoarthritis (OA) as the diseased control group, and 50 healthy blood donors (HBD) as the healthy control group. Detection of B19 IgM and B19 IgG were performed by enzyme-linked immunosorbent assay from serum specimens, and B19 DNA was detected by polymerase chain reaction from synovial fluid samples. B19 IgM, B19 IgG, and B19 DNA were found in the three patients of the ES group. Subsequently, two of them were diagnosed with RA and one with SLE. B19 DNA was also detected in the synovial fluid of eight patients in the RA group. Of them, all were positive for B19 IgG and half were positive for B19 IgM. B19 IgM was not detected in either of the control groups. To define the role of B19 in the etiopathogenesis and prognosis of undiagnosed arthritis and other chronic inflammatory diseases such as RA and SLE, we need broader serial and prospective studies based on clinical and laboratory collaboration. In conjunction with case reports, these studies would also serve to detect other possible factors in the etiopathogenesis of chronic inflammatory diseases.


Assuntos
Anticorpos Antivirais/sangue , Artrite Reumatoide/virologia , Infecções por Parvoviridae/complicações , Parvovirus B19 Humano/isolamento & purificação , Sinovite/virologia , Adulto , Artrite Reumatoide/sangue , Artrite Reumatoide/patologia , DNA Viral/análise , Feminino , Humanos , Imunoglobulina M/sangue , Imunoglobulinas/sangue , Lúpus Eritematoso Sistêmico/sangue , Lúpus Eritematoso Sistêmico/patologia , Lúpus Eritematoso Sistêmico/virologia , Masculino , Pessoa de Meia-Idade , Osteoartrite/sangue , Osteoartrite/patologia , Osteoartrite/virologia , Infecções por Parvoviridae/sangue , Infecções por Parvoviridae/patologia , Parvovirus B19 Humano/genética , Parvovirus B19 Humano/imunologia , Líquido Sinovial/química , Líquido Sinovial/citologia , Líquido Sinovial/virologia , Sinovite/sangue , Sinovite/patologia
20.
Dermatology ; 206(2): 124-30, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12592079

RESUMO

BACKGROUND: Mal de Meleda (MDM) is an autosomal recessive form of palmoplantar keratoderma first described on the Dalmatian island of Meleda. MDM has been observed in many other countries so that the origin of the MDM gene may be elsewhere than in Meleda. OBJECTIVE: After identification of the first MDM patient during a medical visit, a study was planned to reveal other families with MDM in the Köprüçay region in Anatolia. METHODS: The patient was interviewed with a questionnaire including a pedigree drawing. All the subsequent cases reported to be of MDM were visited for clinical examination and pedigree drawings. RESULTS: Thirty-nine patients, 8 families and 2 additional cases with MDM were identified in a 50-km(2) mountainous region in Köprüçay canyon in Anatolia. The prevalent clinical features were nail involvement (80%), 'glove-and-sock' distribution of the keratoderma (60%), edema on the hands/feet (60%), conical tapering of the fingertips (60%) and hyperhidrosis on the palms and soles (50%). CONCLUSION: To our knowledge, this is the largest series reported. The relationship between the patients in Meleda and those in Anatolia awaits discovery by further researches that will be carried out with the collaboration of dermatology, genetics and medical history departments.


Assuntos
Ceratodermia Palmar e Plantar/genética , Adolescente , Adulto , Criança , Pré-Escolar , Consanguinidade , Feminino , Humanos , Lactente , Ceratodermia Palmar e Plantar/epidemiologia , Ceratodermia Palmar e Plantar/patologia , Masculino , Pessoa de Meia-Idade , Linhagem , Turquia/epidemiologia
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