RESUMO
Here we describe the insights gained from sequencing the whole genomes of 2,636 Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions-deletions (indels). We describe the density and frequency spectra of sequence variants in relation to their functional annotation, gene position, pathway and conservation score. We demonstrate an excess of homozygosity and rare protein-coding variants in Iceland. We imputed these variants into 104,220 individuals down to a minor allele frequency of 0.1% and found a recessive frameshift mutation in MYL4 that causes early-onset atrial fibrillation, several mutations in ABCB4 that increase risk of liver diseases and an intronic variant in GNAS associating with increased thyroid-stimulating hormone levels when maternally inherited. These data provide a study design that can be used to determine how variation in the sequence of the human genome gives rise to human diversity.
Assuntos
Subfamília B de Transportador de Cassetes de Ligação de ATP/genética , Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética , Cadeias Leves de Miosina/genética , Idoso , Idoso de 80 Anos ou mais , Fibrilação Atrial/genética , Paralisia Bulbar Progressiva/genética , Cromograninas , Feminino , Mutação da Fase de Leitura , Frequência do Gene , Predisposição Genética para Doença , Genoma Humano , Estudo de Associação Genômica Ampla , Perda Auditiva Neurossensorial/genética , Humanos , Mutação INDEL , Islândia , Hepatopatias/genética , Masculino , Pessoa de Meia-Idade , Anotação de Sequência Molecular , Filogeografia , Polimorfismo de Nucleotídeo Único , Receptores Acoplados a Proteínas G/genética , Risco , Análise de Sequência de DNA , Tireotropina/sangueRESUMO
BACKGROUND AND AIMS: Prospective and population-based studies on the incidence of acute pancreatitis (AP) are lacking. Alcohol consumption has increased considerably in Iceland during the last decade. We aimed to determine the incidence, etiology, severity, and complications of AP and compare the results with a previous study on AP in Iceland. METHODS: A prospective population-based study of patients diagnosed with AP at the National University Hospital of Iceland during 1 year (2010-2011). Information on symptoms, etiology, and complications was registered. RESULTS: During the study period, 134 patients were diagnosed with AP, 78 men (58%), median age 57 years (interquartile range 42-71). Overall, 89/104 (86%) patients had their first attack of pancreatitis, yielding a crude incidence of 40/100 000 inhabitants/year. The major etiological groups were as follows: gallstones, 52 cases (42%); alcohol 29, (23%); postendoscopic retrograde cholangio-pancreatography in 12 (9.5%); medications in eight (6.3%); and idiopathic in 15 (12%). Alcohol was more often the cause in men (25 vs. 4, P<0.05) but the incidence of gallstone-induced pancreatitis was similar in men and women (26 vs. 27). Seven patients had severe complications, three had pancreatic necrosis, two had pseudocysts, and one developed renal failure. Another patient developed acute respiratory distress syndrome and was admitted to the ICU. No patient died of AP during the study period. CONCLUSION: The incidence of AP has not increased significantly in Iceland in the last decade. Alcohol-induced pancreatitis has not increased proportionally despite increased alcohol consumption in Iceland. In a population-based setting, the vast majority of AP is of mild severity.
Assuntos
Pancreatite/epidemiologia , Doença Aguda , Adulto , Idoso , Idoso de 80 Anos ou mais , Consumo de Bebidas Alcoólicas/efeitos adversos , Consumo de Bebidas Alcoólicas/epidemiologia , Feminino , Hospitais Universitários , Humanos , Islândia/epidemiologia , Incidência , Masculino , Pessoa de Meia-Idade , Pseudocisto Pancreático/diagnóstico , Pseudocisto Pancreático/epidemiologia , Pseudocisto Pancreático/terapia , Pancreatite/diagnóstico , Pancreatite/terapia , Pancreatite Necrosante Aguda/diagnóstico , Pancreatite Necrosante Aguda/epidemiologia , Pancreatite Necrosante Aguda/terapia , Pancreatite Alcoólica/diagnóstico , Pancreatite Alcoólica/epidemiologia , Pancreatite Alcoólica/terapia , Estudos Prospectivos , Insuficiência Renal/diagnóstico , Insuficiência Renal/epidemiologia , Insuficiência Renal/terapia , Síndrome do Desconforto Respiratório/diagnóstico , Síndrome do Desconforto Respiratório/epidemiologia , Síndrome do Desconforto Respiratório/terapia , Fatores de Risco , Índice de Gravidade de Doença , Fatores de Tempo , Adulto JovemRESUMO
INTRODUCTION: Varicella is a common disease with possible consequences. The disease is usually contracted in childhood and persistent antibodies are produced. Varicella vaccine is not widely used in Iceland. The aim of the study was to investigate the epidemiology of varicella in Icelandic children and it s complications. The results may prove important when deciding on varicella immunization in Iceland. MATERIAL AND METHODS: The study was retrospective cross sectional. Varicella antibodies were measured from children <18 years of age. Hospital records of children with varicella were evaluated. RESULTS: Serum samples numbered 280. Varicella antibodies were present in 65% of children <1 year of age but in 10% of 1-2 year old children. Almost all children had antibodies before the age of ten and 97.5% of children >10 years had antibodies. Hospital admissions were 58, annual admissions were or 3.6/100,000 children <18 years. Bacterial infections, most frequently skin infections, were the most common complication, followed by cerebellar ataxia, dehydration and nutritional deficiency. CONCLUSION: Most children in Iceland contract varicella before the age of ten. Substantial complications were recorded. It is important to recognize varicella, it's complications, treatment options and explore whether varicella vaccination should be instigated in Iceland. Key words: varicella, epidemiology, complications, children, infants, immunization.