Search results for "Index case"
showing 9 items of 9 documents
Transmission of hepatitis B and hepatitis delta viruses in the households of chronic hepatitis B surface antigen carriers: A regression analysis of i…
1991
Abstract To evaluate whether clinical and laboratory features of a hepatitis B surface antigen (HBsAg) carrier can predict risks of infection, its chronicity, and the development of liver disease among close contacts, the authors studied a cohort of 994 first degree relatives or cohabitants (household contacts) of 226 non-drug-addicted chronic HBsAg carriers (index cases), of whom 77% had liver disease and 26% were superinfected by hepatitis D virus (HDV). A logistic form of regression analysis was used to assess the role of each feature in the index case as predictor of hepatitis B virus (HBV)- and HDV-related outcomes among household contacts. Six models of risk, expressed as odds ratios,…
A genomic epidemiology investigation of yaws re-emergence and bacterial drug resistance selection
2020
Abstract Background In a longitudinal study assessing the WHO strategy for yaws eradication using mass azithromycin treatment, we observed resurgence of yaws cases with dominance of a single JG8 sequence type and emergence of azithromycin-resistant Treponema pallidum. Here, we analyse genomic changes in the bacterial population using samples collected during the study. Methods We performed whole bacterial genome sequencing directly on DNA extracted from 37 lesion swabs collected from patients on Lihir Island, Papua New Guinea, between 2013 and 2016. We produced phylogenies and correlated these with temporo-spatial information to investigate the source of new cases and the emergence of five …
Exposing Empirical Links between COVID-19 Situation Report and Available Data: The Case of Nigeria
2020
Ever since the index case of COVID-19 was announced in Nigeria, the number of confirmed cases has gradually increased to 46,140 (about 4.5% of total confirmed cases in Africa) as the time of writing this article. This seemingly low number of confirmed cases has provoked heated debates among researchers. This cross-sectional study explores the Nigerian COVID-19 report to expose some links between the number of confirmed cases, testing, and some environmental conditions. The findings reveal that there is no state in Nigeria which has up to 12 confirmed cases per 10,000 population. That means, the number of confirmed COVID-19 cases is less than 0.15% of the population of people across each sta…
Lack of SCN1A Mutations in Familial Febrile Seizures
2002
Summary: Purpose: Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS+) families and severe myoclonic epilepsy of infancy. The present study assessed the role of SCN1A in familial typical FSs. Methods: FS families were selected throughout a collaborative study of the Italian League Against Epilepsy. For each index case, the entire coding region of SCN1A was screened by denaturant high-performance liquid chromatography. DNA fragments showing variant chromatograms were subsequently sequenced. Results: Thirty-two FS families accounting for 91 affected indiv…
Colonoscopic screening of first-degree relatives of patients with large adenomas: increased risk of colorectal tumors.
2007
International audience; Background & Aims: The risk of developing colorectal neoplasia is not well established among family members of individuals with large adenomas and screening strategies remain under debate in this population. This study aimed at quantifying the risk of colorectal adenomas and cancers using colonoscopic screening in first-degree relatives of patients with large adenomas. Methods: This case-control study was performed in 18 endoscopic units of French non-University Hospitals. A colonoscopy was offered to first-degree relatives of 306 index cases with adenomas ≥ 10 mm, if they were alive, aged 40-75 and could be contacted by the index case. Among 674 relatives meeting th…
Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis
2021
Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; this identified de novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient). Variants in SPTLC1 are a known cause of hereditary sensory and autonomic neuropathy, type 1A, and these data extend the phenotype associated with this gene. Meaning De novo variants in the SPTLC1 gene are associated with juvenile ALS, a fatal neurological disorder.
An outbreak of food poisoning due to a genogroup I norovirus.
2005
Norovirus infection is associated with approximately 90% of epidemic non-bacterial acute gastroenteritis. The objective of this study is to describe an outbreak of norovirus genogroup I gastroenteritis which affected workers in a hospital and was attributed to food prepared by an infected food handler. Forty cases were detected, of whom 80% were interviewed. The index case was the cook employed in the hospital cafeteria. The following symptoms were observed: abdominal pain in 90·6%, vomiting in 71·9%, diarrhoea in 71·9%, general indisposition in 62·5%, headaches in 53·1% and fever in 32·4% of cases. The initial symptoms were abdominal pain in 37% and vomiting in 28%. Of the 14 samples analy…
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expans…
2019
Background Amyotrophic lateral sclerosis [1] is a genetically heterogeneous neurodegenerative disorder, characterized by late-onset degeneration of motor neurons leading to progressive limb and bulbar weakness, as well as of the respiratory muscles, which is the primary cause of disease fatality. To date, over 25 genes have been implicated as causative in ALS with C9orf72, SOD1, FUS, and TARDBP accounting for the majority of genetically positive cases. Results We identified two patients of Italian and French ancestry with a clinical diagnosis of juvenile-onset ALS who were mutation-negative in any of the known ALS causative genes. Starting with the index case, a consanguineous family of Ita…
A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family
2011
To cite this article: Ferraro MF, Moreno AS, Castelli EC, Donadi EA, Palma MS, Arcuri HA, Lange AP, Bork K, Sarti W, Arruda LK. A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family.Allergy 2011; 66: 1384–1390. Abstract Background: Hereditary angioedema is an autosomal dominant disease characterized by episodes of subcutaneous and submucosal edema. It is caused by deficiency of the C1 inhibitor protein, leading to elevated levels of bradykinin. More than 200 mutations in C1 inhibitor gene have been reported. The aim of this study was to analyze clinical features of a large family with an index case of hereditary angioe…