RESUMO
A recent study employing Australian and UK type 1 diabetes families has demonstrated significant transmission bias to affected offspring of a polymorphism (1188A allele; termed allele 1) in the 3' untranslated region (3'UTR) of the interleukin 12B (IL12B) gene which encodes the IL-12p40 subunit of the pro-inflammatory cytokine IL-12. However, results from replication studies in other populations have been controversial. We performed both case-control (n=120 cases; n=330 controls) and family-based (n=307 families) association studies, using the transmission disequilibrium test, to investigate if allele 1 is associated with early-onset type 1 diabetes in Northern Ireland. No association was observed between allele 1 and type 1 diabetes in either case-control (80.8% vs 80.8%; P=0.98) or family-based (49.7% transmissions; P=0.94) studies. Our results do not support earlier reports of an association between allele 1 in the 3'UTR of the IL12B gene and type 1 diabetes.
Assuntos
Regiões 3' não Traduzidas , Diabetes Mellitus Tipo 1/genética , Interleucina-12/genética , Polimorfismo Genético , Adolescente , Idade de Início , Estudos de Casos e Controles , Criança , Diabetes Mellitus Tipo 1/epidemiologia , Feminino , Predisposição Genética para Doença , Humanos , MasculinoRESUMO
Linkage and association has been reported between CTLA4 DNA markers and susceptibility to type 1 diabetes in some populations, but not others. We performed case-control and family-based association studies to assess if the CTLA4 A49G and intron 1 C/T polymorphisms were associated with development of early onset type 1 diabetes in the Northern Ireland population. The distribution of A49G and C/T alleles in cases (n = 144) was similar to those observed in controls (n = 307). In contrast, significant distortions in allele transmissions from informative parents to probands were observed for both the A49G (P = 0.02) and C/T (P = 0.01) polymorphisms employing 297 nuclear families. Our results suggest that the CTLA4 gene may play a minor role in the overall genetic predisposition to type 1 diabetes in this UK population.
Assuntos
Antígenos de Diferenciação/genética , DNA/genética , Diabetes Mellitus Tipo 1/genética , Imunoconjugados , Polimorfismo Genético , Abatacepte , Antígenos CD , Antígeno CTLA-4 , Estudos de Casos e Controles , Diabetes Mellitus Tipo 1/etnologia , Humanos , Irlanda do NorteRESUMO
Accidental, excessive exposure to therapeutic radiation of the hands is rare and some authors advocate early amputation of the part. A report of the treatment of excessive irradiation to both hands for verrucous lesions in an 18-year-old woman includes a 21 year follow-up without evidence of malignant degeneration.
Assuntos
Traumatismos da Mão/cirurgia , Lesões por Radiação/cirurgia , Radioterapia/efeitos adversos , Adolescente , Feminino , Seguimentos , Dermatoses da Mão/radioterapia , Humanos , Transplante de Pele , Retalhos Cirúrgicos , Transplante Autólogo , Verrugas/radioterapiaRESUMO
The treatment of burnt hands is not simple. By emphasizing problems that are frequently encountered, I have attempted to stress certain methods of treatment based on sound principles of burn wound care and skin grafting. Great responsibility rests on the person who does the initial skin grafting in the full-thickness loss burn of the hand, just as there is on the person who is treating the burnt hand prior to grafting. Such responsibility demands the maintenance of adequate range of motion during the preparatory wound care, after the important initial grafting, and during the rehabilitation period, so that maximum final function can be attained. If one does not recognize the importance of these principles of treatment, a stiff, malpositioned, contracted hand will result that is impossible to adequately correct, leading to significant permanent disability and loss of earning power. All who treat burned patients should realize that the major permanent disability of burns is in the hands. Proper treatment based on sound principles can greatly reduce or eliminate that disability.
