RESUMO
BACKGROUND: Few studies have compared the prognosis and liver-related mortality in patients with NAFLD (nonalcoholic fatty liver disease) and AFLD (alcoholic fatty liver disease). We aimed to investigate the etiology and liver-related mortality of patients with liver biopsy verified fatty liver disease in a population based setting. METHODS: In this retrospective study, all patients who underwent a liver biopsy 1984-2009 at the National University Hospital of Iceland were identified through a computerized pathological database with the code for fatty liver. Only patients with NAFLD and AFLD were included and medical records reviewed. The patients were linked to the Hospital Discharge Register, the Causes of Death Registry and Centre for Addiction Medicine. RESULTS: A total of 151 had NAFLD and 94 AFLD with median survival of 24 years and 20 years, respectively (p = NS). A total of 10/151 (7%) patients developed cirrhosis in the NAFLD group and 19/94 (20%) in AFLD group (p = 0.03). The most common cause of death in the NAFLD group was cardiovascular disease (48%). Liver disease was the most common cause of death in the AFLD group (36%), whereas liver-related death occurred in 7% of the NAFLD group. The mean liver-related death rate among the general population during the study period was 0.1% of all deaths. There was a significantly worse survival for patients in the AFLD group compared to the NAFLD group after adjusting for gender, calendar year of diagnosis and age at diagnosis (HR 2.16, p = 0.009). The survival for patients with moderate to severe fibrosis was significantly worse than for patients with mild fibrosis after adjusting for gender, calendar year of diagnosis and age at diagnosis (HR 2.09, p = 0.01). CONCLUSIONS: Patients with fatty liver disease showed a markedly higher risk of developing liver-related death compared to the general population. The AFLD group had higher liver-related mortality and had a worse survival than the NAFLD group. Patients with more severe fibrosis at baseline showed a worse survival than patients with none or mild fibrosis at baseline.
Assuntos
Fígado Gorduroso Alcoólico/mortalidade , Cirrose Hepática Alcoólica/mortalidade , Hepatopatia Gordurosa não Alcoólica/mortalidade , Adulto , Idoso , Progressão da Doença , Fígado Gorduroso Alcoólico/complicações , Fígado Gorduroso Alcoólico/patologia , Feminino , Seguimentos , Humanos , Cirrose Hepática/etiologia , Cirrose Hepática/mortalidade , Cirrose Hepática/patologia , Cirrose Hepática Alcoólica/etiologia , Cirrose Hepática Alcoólica/patologia , Masculino , Pessoa de Meia-Idade , Hepatopatia Gordurosa não Alcoólica/complicações , Hepatopatia Gordurosa não Alcoólica/patologia , Prognóstico , Estudos RetrospectivosRESUMO
Lynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing data bank, cancer registry and colorectal tumour bank we determine the prevalence of Lynch syndrome, associated cancer risks and pathogenicity of several variants in the Icelandic population. We use colorectal cancer samples from 1,182 patients diagnosed between 2000-2009. One-hundred and thirty-two (11.2%) tumours are mismatch repair deficient per immunohistochemistry. Twenty-one (1.8%) have Lynch syndrome while 106 (9.0%) have somatic hypermethylation or mutations in the mismatch repair genes. The population prevalence of Lynch syndrome is 0.442%. We discover a translocation disrupting MLH1 and three mutations in MSH6 and PMS2 that increase endometrial, colorectal, brain and ovarian cancer risk. We find thirteen mismatch repair variants of uncertain significance that are not associated with cancer risk. We find that founder mutations in MSH6 and PMS2 prevail in Iceland unlike most other populations.
Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/genética , Proteínas de Ligação a DNA/genética , Efeito Fundador , Mutação em Linhagem Germinativa , Endonuclease PMS2 de Reparo de Erro de Pareamento/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Pareamento Incorreto de Bases , Neoplasias Colorretais Hereditárias sem Polipose/epidemiologia , Feminino , Predisposição Genética para Doença , Humanos , Islândia/epidemiologia , Masculino , Pessoa de Meia-Idade , PrevalênciaRESUMO
In this article we describe two separate cases of serious eye injuries that were the result of two teenagers´ attempts to make home-made explosives out of fireworks. They had tampered with the same brand of fireworks, Víti, that appears to be popular for this purpose and instructions are available on the internet. One boy got an intraocular glass splinter and underwent vitrectomy for removal. The other boy suffered burns on his corneas that were treated with amniotic membranes. In both cases the outcome was better than expected at first. The objective of this article is to draw attention to the danger of tampering with fireworks and the necessity of preventive measures to minimize the risk of serious eye injuries.