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1.
Aging (Albany NY) ; 15(9): 3273-3294, 2023 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-37130431

RESUMO

Werner syndrome is an adult-onset progeria syndrome that results in various complications. This study aimed to clarify the profile and secular variation of the disease. Fifty-one patients were enrolled and registered in the Werner Syndrome Registry. Their data were collected annually following registration. A cross-sectional analysis at registration and a longitudinal analysis between the baseline and each subsequent year was performed. Pearson's chi-squared and Wilcoxon signed-rank tests were used. Malignant neoplasms were observed from the fifth decade of life (mean onset: 49.7 years) and were observed in approximately 30% of patients during the 3-year survey period. Regarding renal function, the mean estimated glomerular filtration rate calculated from serum creatinine (eGFRcre) and eGFRcys, which were calculated from cystatin C in the first year, were 98.3 and 83.2 mL/min/1.73 m2, respectively, and differed depending on the index used. In longitudinal analysis, the average eGFRcre for the first and fourth years was 74.8 and 63.4 mL/min/1.73 m2, showing a rapid decline. Secular changes in Werner syndrome in multiple patients were identified. The prevalence of malignant neoplasms is high, and renal function may decline rapidly. It is, therefore, necessary to carry out active and detailed examinations and pay attention to the type and dose of the drugs used.


Assuntos
Doenças Cardiovasculares , Nefropatias , Neoplasias , Sarcopenia , Síndrome de Werner , Humanos , Rim , Seguimentos , Síndrome de Werner/complicações , Síndrome de Werner/epidemiologia , Estudos Transversais , Neoplasias/complicações , Neoplasias/epidemiologia , Creatinina
2.
Aging (Albany NY) ; 12(24): 24940-24956, 2020 12 29.
Artigo em Inglês | MEDLINE | ID: mdl-33373317

RESUMO

Patients with Werner syndrome present with diverse signs of aging that begin in adolescence. A Japanese nationwide survey was conducted to establish a registry that could clarify the disease profile of patients with Werner syndrome. The questionnaires were sent to 7888 doctors. The survey identified 116 patients diagnosed with Werner syndrome based on the diagnosis criteria. Forty patients were enrolled in the registry. Data on clinical symptoms, treatment information, and laboratory examination from patients who provided informed consent were collected. The data at enrollment were analyzed. The patients' average age at enrollment was 50.1±7.5 years. The mean onset age was 26.1±9.5 years, but the mean age at diagnosis was 42.5±8.6 years. Average height and weight of the study patients were lower than those of Japanese individuals. Almost all patients experienced hair change and cataracts. More than 60% of patients presented with glycolipid abnormalities. Overall, 15% of patients had a history of foot amputation. Approximately 30% of the patients' parents had a consanguineous marriage. The average grip strength, walking speed, and skeletal muscle mass index met the diagnostic criteria for sarcopenia. The registry revealed that there are opportunities for early diagnosis and intervention; therefore, sensitization about the disease is needed.


Assuntos
Diagnóstico Tardio/estatística & dados numéricos , Síndrome de Werner/diagnóstico , Adolescente , Adulto , Idade de Início , Alopecia/fisiopatologia , Calcinose/fisiopatologia , Catarata/fisiopatologia , Consanguinidade , Diabetes Mellitus , Dislipidemias , Diagnóstico Precoce , Intervenção Médica Precoce , Fígado Gorduroso , Feminino , Cor de Cabelo , Força da Mão , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Transtornos da Pigmentação/fisiopatologia , Sarcopenia/fisiopatologia , Úlcera Cutânea/fisiopatologia , Velocidade de Caminhada , Síndrome de Werner/fisiopatologia , Adulto Jovem
4.
J Invest Dermatol ; 133(11): 2514-2521, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23698098

RESUMO

Generalized pustular psoriasis (GPP) is a rare inflammatory skin disease that can be life-threatening. Recently, it has been reported that familial GPP is caused by homozygous or compound heterozygous mutations of IL36RN. However, the majority of GPP cases are sporadic and it is controversial whether IL36RN mutations are a causative/predisposing factor for sporadic GPP. We searched for IL36RN mutations in two groups of GPP patients in the Japanese population in this study: GPP without psoriasis vulgaris (PV), and GPP with PV. Eleven cases of GPP without PV (GPP alone) and 20 cases of GPP accompanied by PV (GPP with PV) were analyzed. Surprisingly, 9 out of 11 cases of GPP alone had homozygous or compound heterozygous mutations in IL36RN. In contrast, only 2 of 20 cases of GPP with PV had compound heterozygous mutations in IL36RN. The two cases of GPP with PV who had compound heterozygous mutations in IL36RN are siblings, and both cases had PV-susceptible HLA-A*0206. We determined that GPP alone is a distinct subtype of GPP and is etiologically distinguished from GPP with PV, and that the majority of GPP alone is caused by deficiency of the interleukin-36 receptor antagonist due to IL36RN mutations.


Assuntos
Povo Asiático/genética , Predisposição Genética para Doença/genética , Interleucinas/genética , Psoríase/genética , Psoríase/patologia , Adolescente , Adulto , Idoso , Pré-Escolar , Feminino , Haplótipos , Heterozigoto , Teste de Histocompatibilidade , Homozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
5.
J Am Acad Dermatol ; 61(6): 1070-5, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19632739

RESUMO

Schnitzler syndrome is a rare condition defined by chronic urticaria, osteosclerotic bone lesions, and monoclonal IgM gammopathy. Schnitzler syndrome can precede the onset of a true lymphoproliferative disorder including Waldenström macroglobulinemia and rarely systemic marginal zone B-cell lymphoma. We describe a case of intractable chronic urticaria accompanied by a retroperitoneal neoplasm. IgM monoclonal gammopathy, lumber pain, intermittent fever, and elevation of C-reactive protein were the clues for the diagnosis of Schnitzler syndrome. An evaluation for malignancy using systemic computed tomography scan and fluorodeoxyglucose positron emission tomography revealed the retroperitoneal tumor, and a subsequent bone-marrow aspirate confirmed the diagnosis of B-cell lymphoma. Combined rituximab and radiotherapy ameliorated the skin symptoms. This case indicates that a detailed search for malignant neoplasms might be required for the long-term management of Schnitzler syndrome, and that B-cell lymphomas may contribute to the pathogenesis of this condition.


Assuntos
Anticorpos Monoclonais/uso terapêutico , Antineoplásicos/uso terapêutico , Linfoma de Células B/tratamento farmacológico , Linfoma de Células B/radioterapia , Neoplasias Retroperitoneais/radioterapia , Síndrome de Schnitzler/complicações , Urticária/complicações , Idoso , Anticorpos Monoclonais Murinos , Terapia Combinada , Feminino , Humanos , Linfoma de Células B/complicações , Neoplasias Retroperitoneais/tratamento farmacológico , Rituximab , Síndrome de Schnitzler/diagnóstico
7.
Cutis ; 72(3): 229-30, 2003 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-14533835

RESUMO

Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder that exhibits marked hyperkeratosis of the skin. We successfully treated cutaneous lesions on the soles of a patient with KID syndrome using hydrocolloid dressing.


Assuntos
Surdez/tratamento farmacológico , Ictiose/tratamento farmacológico , Ceratite/tratamento farmacológico , Ceratodermia Palmar e Plantar/tratamento farmacológico , Adulto , Curativos Hidrocoloides , Coloides/uso terapêutico , Humanos , Masculino , Curativos Oclusivos , Síndrome
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