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Debilitating Disorder (debilitating + disorder)

Distribution by Scientific Domains
Medical Sciences75%

Selected Abstracts

Shorter Telomere Length in Peripheral Blood Cells Associated With Migraine in Women

HEADACHE, Issue 6 2010
Hua Ren PhD
(Headache 2010;50:965-972) Objective., To evaluate relative telomere length of female migraine patients. Background., Migraine is a debilitating disorder affecting 6-28% of the population. Studies on the mechanisms of migraine have demonstrated genetic causes but the pathophysiology and subcellular effects of the disease remain poorly understood. Shortened telomere length is associated with age-related or chronic diseases, and induced stresses. Migraine attacks may impart significant stress on cellular function, thus this study investigates a correlation between shortening of telomeres and migraine. Methods., Relative telomere length was measured using a previously described quantitative polymerase chain reaction method. A regression analysis was performed to assess differences in mean relative telomere length between migraine patients and healthy controls. Results., The leukocyte telomeres of a cohort of 142 Caucasian female migraine subjects aged 18-77 years and 143 matched 17-77-year-old healthy control Caucasian women were examined. A significantly shorter relative telomere length was observed in the migraine group compared with the control group after adjusting for age and body mass index (P = .001). In addition, age of onset was observed to associate with the loss of relative telomere length, especially at early age of onset (<17 years old). No association was observed between relative telomere length and the severity and frequency of migraine attacks and the duration of migraine. Conclusion., Telomeres are shorter in migraine patients and there is more variation in telomere length in migraine patients. [source]

Novel NOD2 haplotype strengthens the association between TLR4 Asp299gly and Crohn's disease in an Australian population

INFLAMMATORY BOWEL DISEASES, Issue 5 2008
Georgia E. Hume MD
Abstract Background: The first major Crohn's disease (CD) susceptibility gene, NOD2, implicates the innate intestinal immune system and other pattern recognition receptors in the pathogenesis of this chronic, debilitating disorder. These include the Toll-like receptors, specifically TLR4 and TLR5. A variant in the TLR4 gene (A299G) has demonstrated variable association with CD. We aimed to investigate the relationship between TLR4 A299G and TLR5 N392ST, and an Australian inflammatory bowel disease cohort, and to explore the strength of association between TLR4 A299G and CD using global meta-analysis. Methods: Cases (CD = 619, ulcerative colitis = 300) and controls (n = 360) were genotyped for TLR4 A299G, TLR5 N392ST, and the 4 major NOD2 mutations. Data were interrogated for case-control analysis prior to and after stratification by NOD2 genotype. Genotype,phenotype relationships were also sought. Meta-analysis was conducted via RevMan. Results: The TLR4 A299G variant allele showed a significant association with CD compared to controls (P = 0.04) and a novel NOD2 haplotype was identified which strengthened this (P = 0.003). Furthermore, we identified that TLR4 A299G was associated with CD limited to the colon (P = 0.02). In the presence of the novel NOD2 haplotype, TLR4 A299G was more strongly associated with colonic disease (P < 0.001) and nonstricturing disease (P = 0.009). A meta-analysis of 11 CD cohorts identified a 1.5-fold increase in risk for the variant TLR4 A299G allele (P < 0.00001). Conclusions:TLR 4 A299G appears to be a significant risk factor for CD, in particular colonic, nonstricturing disease. Furthermore, we identified a novel NOD2 haplotype that strengthens the relationship between TLR4 A299G and these phenotypes. (Inflamm Bowel Dis 2007) [source]

Palaeopathological and palaeogenetic study of 13 cases of developmental dysplasia of the hip with dislocation in a historical population from southern France

INTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY, Issue 1 2007
B. Mafart
Abstract Dislocation of the hip can be consecutive to developmental dysplasia of the hip that is linked to a complex set of genetic and mechanical factors. The purpose of this report is to describe 13 cases of complete dysplastic hip dislocation observed in the skeletal remains of nine women exhumed from an historical gravesite dating from the 5th to 17th centuries in southern France. Despite the size of this palaeopathological series, which is the largest study published to date, findings indicate that the prevalence of hip dislocation in this historical sample was still lower than in some French areas at the beginning of the 20th century. Mitochondrial DNA sequencing demonstrated possible kinship only between two women, i.e. one who died in the period from the 11th to 13th centuries and another who died in the period from the 16th to 17th centuries. It is suggested that the tight swaddling of young infants in France up to the end of the 19th century could have been a predisposing factor for this highly debilitating disorder. Copyright © 2006 John Wiley & Sons, Ltd. [source]

The genetics of panic disorder: state of the art

ACTA NEUROPSYCHIATRICA, Issue 2 2004
Dirk Van West
Panic disorder (PD) is a highly prevalent, debilitating disorder. The heritability of the disease has been estimated by twin studies to be between 30 and 60%. The vulnerability for PD overlaps with an increased risk of bipolar disorder in some families. Classical genetic methods such as linkage analysis and association studies have not yet identified genetic risk factors beyond doubt. However, two independent studies confirm linkage of a specific syndrome characterized by PD, bladder problems, severe headaches, mitral valve prolapse and thyroid dysfunction to genetic markers on chromosome 13q. Association studies, although showing divergent results, give some support to a causative role for the genes encoding for monoamine oxidase A (MAO-A), cholecystokinin (CCK) and catechol-O-methyltransferase (COMT). Finally, a somatic duplication of a 19-Mb region on chromosome 15 has been associated with PD, but this intriguing finding awaits confirmation. [source]