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Family Cohort (family + cohort)

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Medical Sciences100%

Selected Abstracts

Adenovirus infections within a family cohort in Iran,

PEDIATRIC PULMONOLOGY, Issue 8 2009
Mohammadreza Naghipour PhD
Abstract Background Adenovirus is one of the most frequent viruses associated with acute respiratory infections (ARI). There is limited information of its transmission within the community. Methods Cohorts of 50 families with ,two children were visited weekly for 2 months to ascertain the presence ARI in Rasht, Iran. Nasopharyngeal swabs were obtained from symptomatic participants and at 3,4-day intervals to assess the duration of adenovirus shedding. Adenoviruses were identified by PCR and adenovirus positive amplicons were subjected to DNA sequencing. Results Thirty-three (35%) of 94 ARI episodes in children and 8 (27%) of 30 episodes in adults were due to adenovirus (not significant, NS). 25/50 (50%) families had adenovirus infections. Children had more infections than adults, were more likely to develop symptoms if there was a symptomatic case within the household and episodes had a longer duration (P,<,0.05). Adenoviruses were recovered for a median of 11 (interquartile range 5,26) days of follow up in children and 7 (2,20) days in adults (NS). Adenovirus-7 was the most frequent serotype (12 families), followed by adenovirus-6 (5 families), adenovirus-1 and 2 (4 families each), and adenovirus-5 (3 families). Both adenovirus-5 and 7 amplicons fell into two clusters. No mutations were observed during transmission within a family. Conclusion A substantial proportion of ARI in the community are due to adenovirus with further transmission within the family. Children ,2 years experienced a higher proportion of infections than younger children and adults. Viral shedding was more prolonged in children and adenovirus-7 and 5 predominated with several clusters co-circulating in the same season. Pediatr Pulmonol. 2009; 44:749,753. © 2009 Wiley-Liss, Inc. [source]

Detection of germline deletions using real-time quantitative polymerase chain reaction in Japanese patients with von Hippel,Lindau disease

CANCER SCIENCE, Issue 5 2006
Keiko Hattori
Germline mutations of the VHL gene are responsible for VHL. Approximately 70% of VHL families display small intragenic mutations detectable by sequencing, whereas partial- or whole-gene deletions have been described in the majority of the remaining families. For such large deletions, complex genetic techniques other than sequencing might have to be used. In this study, we describe an RQ-PCR assay with TaqMan fluorescent probes to detect germline VHL deletions. The RQ-PCR primer/probe sets were designed for the three VHL coding exons as well as for the 5, promoter and 3, untranslated regions. The RQ-PCR assay for 30 normal and 10 known VHL deletion control samples demonstrated high sensitivity and specificity. We then screened 29 individuals from 19 classical VHL families (16 type 1, 2 type 2A, and one type 2B) and one PHEO family, as well as four solitary suspected cases, none displaying any sequence changes, for VHL deletions by the RQ-PCR assay. We detected germline deletions in 17 (89%) classical families including 15 type 1, one type 2A, and one type 2B. We also identified two mutation carriers and two non-carriers in our family cohort. The one PHEO family and four solitary cases did not display any deletion patterns. These findings indicated that the TaqMan-based RQ-PCR assay is a simple and potent technique for the rapid, sensitive, and specific investigation of VHL genetic diagnoses that could be used profitably before more complex large-deletion detection techniques. (Cancer Sci 2006; 97: 400 ,405) [source]

Putative association of a TLR9 promoter polymorphism with atopic eczema

ALLERGY, Issue 7 2007
N. Novak
Background:, Toll-like receptors (TLR) play a pivotal role in the induction of first-line defense mechanisms of the innate immune system and trigger adaptive immune responses to microbial pathogens. Genetic variations in innate immunity genes have been reported to be associated with a range of inflammatory disorders. Deficiencies on the level of immunity receptors such as pathogen-recognition receptors are suspected to affect the maturation of our immune system and to avail thereby the high prevalence of atopic diseases and susceptibility of atopic patients to microbial infections. Aims of the study:, We evaluated TLR9 as susceptibility gene for atopic eczema (AE). Methods:, Analyses of four tag single-nucleotide polymorphisms in two panels of families containing a total of 483 parent-affected offspring trios as well as a cohort of 274 unrelated adult AE cases and 252 hypernormal population-based controls have been performed. Results:, In both family cohorts, polymorphism C-1237T, which is located within the promoter region of the TLR9 gene, was significantly associated with AE, in particular the intrinsic subtype of AE. No associations were seen in the case,control cohort. Luciferase reporter gene assays revealed significantly higher promoter activity of the TT allelic variant at this single nucleotide polymorphism site. Conclusion:, These observations suggest that the TLR9 promoter polymorphism C-1237T might affect AE susceptibility in particular in patients with the intrinsic variant of AE. [source]

Age- and sex-related patterns of serum interferon-, activity in lupus families

ARTHRITIS & RHEUMATISM, Issue 7 2008
Timothy B. Niewold
Objective Interferon-, (IFN,) levels are elevated in many patients with systemic lupus erythematosus (SLE) and may play a primary role in its pathogenesis. The purpose of this study was to determine whether serum IFN, activity in SLE patients and their healthy first-degree relatives is highest in early adulthood, when the incidence of SLE is greatest. Methods Serum samples from 315 SLE patients, 359 healthy first-degree relatives, and 141 healthy unrelated donors were measured for IFN, activity using a functional reporter cell assay. IFN, activity was analyzed in relation to age, and subgroups with high levels of IFN, activity were identified within the large data sets using a Mann-Whitney sliding window segmentation algorithm. The significance of each subgrouping was ranked by Kruskal-Wallis testing. Results Age was inversely correlated with IFN, activity in female SLE patients (r = ,0.20, P = 0.001) as well as their healthy female first-degree relatives (r = ,0.16, P = 0.02). In male patients and their healthy male first-degree relatives, there was no significant overall correlation between age and serum IFN, activity. The segmentation algorithm revealed significantly increased IFN, activity between the ages of 12 and 22 years in female SLE patients and between the ages of 16 and 29 years in male SLE patients. Both male and female healthy first-degree relatives had significantly decreased IFN, activity after the age of 50 years. Conclusion Serum IFN, activity is higher in younger individuals in the SLE family cohorts, and this tendency is accentuated in affected individuals. This age-related pattern of IFN, activity may contribute to the increased incidence of SLE in early adulthood, and interestingly, males and females had similar age-related patterns of IFN, activity. [source]