Search results for "genetic disorder"
showing 10 items of 39 documents
Genetic disorders and periodontal health: A literature review
2009
Periodontal diseases include a group of infl ammatory diseases characterized by progressive destruction of the periodontium. Dental plaque is the initiator of periodontal disease, but disease severity and response to treatment are determined predominantly by host-based risk factors. Genetic disorders can modify the host defense mechanisms or infl uence the homeostasis of the periodontium during childhood, thus increasing patients’ susceptibility to periodontal disease. The periodontal manifestations of these disorders may persist into adulthood. When dealing with periodontal problems, particularly in children and adolescents, it is advisable to establish a differential diagnosis of periodon…
Analysis of the Ush2a Gene in Medaka Fish (Oryzias latipes)
2013
Patients suffering from Usher syndrome (USH) exhibit sensorineural hearing loss, retinitis pigmentosa (RP) and, in some cases, vestibular dysfunction. USH is the most common genetic disorder affecting hearing and vision and is included in a group of hereditary pathologies associated with defects in ciliary function known as ciliopathies. This syndrome is clinically classified into three types: USH1, USH2 and USH3. USH2 accounts for well over one-half of all Usher cases and mutations in the USH2A gene are responsible for the majority of USH2 cases, but also for atypical Usher syndrome and recessive non-syndromic RP. Because medaka fish (Oryzias latypes) is an attractive model organism for ge…
Lip and oral lesions in children with Down syndrome. A controlled study
2015
Background: Down syndrome (DS) is the most common chromosomal abnormality affecting numerous organs, including the orofacial region. The objective of the present study was to assess the prevalence of lip and oral soft tissue lesions, with particular emphasize on the incidence of fissured tongue, lip fissures and angular cheilitis, among individuals with DS in Yemen. Material and Methods: This controlled cross-sectional study included 50 children with DS (6-18 years), and 50 age- and gender-matched healthy controls. The prevalence of orofacial soft tissue lesions was evaluated in both groups. Data were analyzed by Chi-square and Fisher tests, and p <0.05 was considered to be statistically si…
Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene
2012
Background. Fabry disease (FD) is an X-linked inherited disease based on the absence or reduction of lysosomal-galactosidase (Gla) activity. The enzymatic defect results in progressive impairment of cerebrovascular, renal and cardiac function. Normally, female heterozygote mutation carriers are less strongly affected than male hemizygotes aggravating disease diagnosis. Method. Close examination of the patients by renal biopsy, echo- and electrocardiography and MRI. Blood work and subsequent DNA analysis were carried out utilizing approved protocols for PCR and Sequencing. MLPA analysis was done to unveil deletions within the GLA gene locus. Quantitative detection of Glycolipids in patient p…
[Y chromosome in Turner syndrome].
2017
Turner syndrome (TS) is an inherited genetic disorder caused by numerical and/or structural chromosome X aberrations occurring at a frequency of 1:1200-1:2500 live-born girls. The most common karyotype is X chromosome monosomy (45,X) (approximately 50-60% of cases). Approximately 5-6% of patients may have abnormal Y chromosome or mosaicism characterized by the coexistence of 45,X cell line with cell line in which all or part of chromosome Y is present. In patients with TS who have all or fragmented genetic material from chromosome Y there is a substantial risk of cancerous lesions in these dysgenetic gonads. This paper stands for the review of the current knowledge on the genetic material o…
A novel approach to CFTR mutation testing by pyrosequencing-based assay panels adapted to ethnicities.
2009
Abstract Background: Cystic fibrosis (CF) is a common autosomal recessive genetic disorder caused by a variety of sequence alterations in the CFTR gene [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)]. Because the relative prevalence of mutations strongly depends on the ethnic background, first-level testing of CF as defined by recent consensus recommendations ought to be adaptable to the ethnicity of patients. Methods: We therefore developed and implemented a diagnostic approach to first-level testing for CF based on published mutation frequencies and Pyrosequencing (PSQ) technology that we complemented with standard procedures of mutation…
Lipoprotein-associated phospholipase A₂ activity is increased in patients with definite familial hypercholesterolemia compared with other forms of hy…
2018
International audience; Background and Aim: Lipoprotein-associated phospholipase A2 (Lp-PLA2) plays a key role in atherosclerosis development. It is considered a marker of increased risk of cardiovascular disease (CVD) and plaque vulnerability. Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated plasma levels of low-density lipoprotein cholesterol and a higher prevalence of early CVD. Our aim was to evaluate the differences in Lp-PLA2 activity in a population of hypercholesterolemic patients with and without definite FH.Methods and Results: Hypercholesterolemic patients were consecutively recruited. Definite FH was defined according to Dutch Lipid Clinic Netwo…
First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pa…
2021
AbstractBackgroundHypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder which affects structures of ectodermal origin. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of disease. XLHED is characterized by hypotrichosis, hypohydrosis and hypodontia. The cardinal features of classic HED become obvious during childhood.Identification of a hemizygous EDA pathogenic variant in an affected male confirms the diagnosis.Case presentationWe report on a male newborn with the main clinical characteristics of the X-linked HED including hypotrichosis, hypodontia and hypohidrosis. Gene panel sequencing identified a new hemizygous missense variant of uncertain significanc…
Management of homozygous familial hypercholesterolaemia in two brothers
2018
Homozygous familial hypercholesterolaemia (HoFH) is a rare, genetic disorder of abnormally high levels of low-density lipoprotein cholesterol (LDL-C) requiring aggressive interventions to retard the evolution of atherosclerotic cardiovascular disease. We treated two brothers (ages 46 years and 47 years) with HoFH with statins, lipoproteinapheresis (LA) and the microsomal triglyceride transfer protein inhibitor lomitapide. Both brothers carried the p.Thr434Arg homozygous LDLR mutation and had childhood total cholesterol levels >700 mg/dL. Inter-LA LDL-C levels remained high; therefore, they were given escalating doses of oral lomitapide (5–10 mg/day). One brother was able to maintain LDL-C l…
Dental treatment of Marfan syndrome. With regard to a case.
2010
Marfan syndrome is the most common dominant autosomic genetic disorder of the connective tissue. It has a reported incidence of 1 per each 5000 individuals without any distinction of gender or ethnicity. This pathology?s diagnosis is mainly based on physical characteristics, presenting three main different symptomatic charts: neonatal Marfan, infant Marfan and classical Marfan. The mayor characteristic of these patients consists of an exaggerated length of the upper and lower limbs, hyperlaxity, scoliosis, alterations in the cardiovascular and pulmonary systems and atypical bone overgrowth. The individual implied in the present investigation concerned to a 14 year old male patient presentin…