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1.
Forensic Sci Med Pathol ; 13(3): 278-283, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28668989

RESUMO

There is growing awareness of sudden unexplained death in alcohol misuse (SUDAM) in which there is no obvious cause of death, no evidence of acute alcohol toxicity or alcoholic ketoacidosis, and the heart is morphologically normal. This study describes the characteristics of a cohort with SUDAM from a tertiary cardiovascular referral center and compares the findings with those of individuals who died from sudden arrhythmic death syndrome (SADS). Cases in this retrospective cross-sectional study were identified from a database of referrals to our center spanning approximately 40 years. Cases with recorded heavy use of alcohol and non-alcohol users were selected, then limited to those with SUDAM or SADS aged 16 to 64 years. 62 cases of SUDAM and 41 cases of SADS were identified. The SUDAM group were older than the SADS group; mean age 35.8 years and 27.7 years respectively (P=0.0002). There was also a higher incidence of significant psychiatric illness in SUDAM (19.7%) than SADS (2.4%) cases. Post mortem liver examination was more likely to reveal heavy livers in SUDAM than SADS (2196.1g and 1572.4g respectively; P=0.0033) and more fatty liver change (24.2% and 2.4%). SUDAM tends to occur in individuals who are older and have heavier livers than those with SADS. Psychiatric illness is also more common. SADS, unlike SUDAM, is often associated with heritable channelopathies that may affect surviving family members. Therefore, differentiating between SUDAM and SADS identifies families likely to benefit from screening for these mutations, thus preventing further sudden arrhythmic deaths.


Assuntos
Alcoolismo/mortalidade , Arritmias Cardíacas/mortalidade , Morte Súbita/etiologia , Adolescente , Adulto , Estudos Transversais , Inglaterra/epidemiologia , Fígado Gorduroso Alcoólico/patologia , Feminino , Humanos , Fígado/patologia , Masculino , Transtornos Mentais/epidemiologia , Pessoa de Meia-Idade , Tamanho do Órgão , Estudos Retrospectivos , País de Gales/epidemiologia , Adulto Jovem
2.
Hum Pathol ; 53: 153-8, 2016 07.
Artigo em Inglês | MEDLINE | ID: mdl-27038679

RESUMO

An 18-year-old man underwent liver transplantation due to an Abernethy malformation associated with multiple hepatocellular nodules including one which was rapidly enlarging and was suspicious for malignant transformation. Analysis of the explanted liver showed a spectrum of multiple hepatocellular nodules ranging in appearance from focal nodular hyperplasia, hepatocellular adenoma and to a well-differentiated hepatocellular neoplasm borderline for hepatocellular carcinoma. Mutational analysis revealed wild-type ß-catenin expression in the background liver and some nodules, whilst different variants were present in other lesions irrespective of their morphological appearance. No telomerase reverse transcriptase (TERT) promoter mutation was identified. Abernethy malformations can lead to independent genetic events which can result in ß-catenin mutations associated with malignant transformation of hepatocellular nodules. When following up such patients, one must therefore have a high index of suspicion, particularly if radiological surveillance reveals a change in the nature of hepatic lesions.


Assuntos
Adenoma de Células Hepáticas/genética , Biomarcadores Tumorais/genética , Carcinoma Hepatocelular/genética , Hiperplasia Nodular Focal do Fígado/genética , Neoplasias Hepáticas/genética , Mutação , Neoplasias Primárias Múltiplas/genética , Malformações Vasculares/genética , beta Catenina/genética , Adenoma de Células Hepáticas/diagnóstico , Adenoma de Células Hepáticas/enzimologia , Adenoma de Células Hepáticas/cirurgia , Adolescente , Biomarcadores Tumorais/análise , Biópsia , Carcinoma Hepatocelular/diagnóstico , Carcinoma Hepatocelular/enzimologia , Carcinoma Hepatocelular/cirurgia , Transformação Celular Neoplásica/genética , Transformação Celular Neoplásica/patologia , Análise Mutacional de DNA , Hiperplasia Nodular Focal do Fígado/diagnóstico , Hiperplasia Nodular Focal do Fígado/enzimologia , Hiperplasia Nodular Focal do Fígado/cirurgia , Predisposição Genética para Doença , Glutamato-Amônia Ligase/análise , Humanos , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/enzimologia , Neoplasias Hepáticas/cirurgia , Transplante de Fígado , Imageamento por Ressonância Magnética , Masculino , Neoplasias Primárias Múltiplas/diagnóstico , Neoplasias Primárias Múltiplas/enzimologia , Neoplasias Primárias Múltiplas/cirurgia , Fenótipo , Malformações Vasculares/diagnóstico , Malformações Vasculares/enzimologia , Malformações Vasculares/cirurgia
3.
J Plast Reconstr Aesthet Surg ; 67(1): 23-6, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24100204

RESUMO

BACKGROUND: The preferred method of treatment of Dermatofibrosarcoma Protuberance (DFSP) is surgery. Clear margins are achieved by wide local excision (WLE) or by Mohs micrographic surgery. Mohs surgery and reconstruction always requires two or more procedures. This study aims to assess the ability of WLE to accomplish clear histopathological margins and low recurrence rate with a single procedure. We present our results from ten years experience of wide local excision. METHODS: This is a retrospective analysis of data of all cases of DFSP treated with WLE by a single operator in our department between 2002 and 2012. RESULTS: Twenty patients were identified. The surgical excision and reconstruction were performed on the same day in all cases. The mean histological peripheral margin was 17 mm and the deep 9 mm. There was no incomplete excision and no recurrence recorded. There were no postoperative complications or tumour recurrences reported for an average period of 5.6 years follow-up. CONCLUSION: Mohs surgery offers clear histological margins but requires multiple patient visits to achieve complete excision and later reconstruction. We show that WLE can achieve these in one procedure, the excision margins making little difference when planning the eventual reconstruction.


Assuntos
Dermatofibrossarcoma/cirurgia , Cirurgia de Mohs , Recidiva Local de Neoplasia/prevenção & controle , Neoplasias Cutâneas/cirurgia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasia Residual , Procedimentos de Cirurgia Plástica , Estudos Retrospectivos , Transplante de Pele , Retalhos Cirúrgicos , Adulto Jovem
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