35 research outputs found
Congenital contractural arachnodactyly (Beals syndrome)
Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a mutation in FBN2 gene on chromosome 5q23. Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint contractures (especially elbow, knee and finger joints), and crumpled ears in the absence of significant aortic root dilatation are characteristic of Beals syndrome and rarely found in Marfan syndrome. The incidence of CCA is unknown and its prevalence is difficult to estimate considering the overlap in phenotype with MFS; the number of patients reported has increased following the identification of FBN2 mutation. Molecular prenatal diagnosis is possible. Ultrasound imaging may be used to demonstrate joint contractures and hypokinesia in suspected cases. Management of children with CCA is symptomatic. Spontaneous improvement in camptodactyly and contractures is observed but residual camptodactyly always remains. Early intervention for scoliosis can prevent morbidity later in life. Cardiac evaluation and ophthalmologic evaluations are recommended
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles. This finding is in contrast to the loss-of-function mutations in SMCHD1 that have been associated with facioscapulohumeral muscular dystrophy (FSHD) type 2. Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD
Factors associated with stunting among children according to the level of food insecurity in the household: a cross-sectional study in a rural community of Southeastern Kenya
Background: Chronic malnutrition or stunting among children under 5 years old is affected by several household environmental factors, such as food insecurity, disease burden, and poverty. However, not all children experience stunting even in food insecure conditions. To seek a solution at the local level for preventing stunting, a cross-sectional study was conducted in southeastern Kenya, an area with a high level of food insecurity. Methods: The study was based on a cohort organized to monitor the anthropometric status of children. A structured questionnaire collected information on the following: demographic characteristics, household food security based on the Household Food Insecurity Access Scale (HFIAS), household socioeconomic status (SES), and child health status. The associations between stunting and potential predictors were examined by bivariate and multivariate stepwise logistic regression analyses. Furthermore, analyses stratified by level of food security were conducted to specify factors associated with child stunting in different food insecure groups. Results: Among 404 children, the prevalence of stunting was 23.3%. The percentage of households with severe food insecurity was 62.5%. In multivariative analysis, there was no statistically significant association with child stunting. However, further analyses conducted separately according to level of food security showed the following significant associations: in the severely food insecure households, feeding tea/porridge with milk (adjusted Odds Ratio [aOR]: 3.22; 95% Confidence Interval [95% CI]: 1.43-7.25); age 2 to 3 years compared with 0 to 5 months old (aOR: 4.04; 95% CI: 1.01-16.14); in households without severe food insecurity, animal rearing (aOR: 3.24; 95% CI: 1.04-10.07); SES with lowest status as reference (aOR range: from 0.13 to 0.22). The number of siblings younger than school age was not significantly associated, but was marginally associated in the latter household group (aOR: 2.81; 95% CI: 0.92-8.58). Conclusions: Our results suggest that measures against childhood stunting should be optimized according to food security level observed in each community
Determination of aldicarb (temik 15G) residue in cotton plant Pamuk bitkisinde aldicarb (temik 15 G) kalintisinin i̇ncelenmesi
Tha fate of 14C-aldicarb pesticide [2-methy-2- (methylthio) propionaldehyde o- (methylcarbamoyl) oxime] in pots and field grown cotton plant was measured. 14C-aldicarb constituted the major portion of the 14C materials in the foliage, stem and cotton seed. Residues of aldicarb were determined with liquid scintillation counter. Temik 15G (aldicarb) was applied at 1.67 kg/da infurrow on both sides of the rows of the cotton plants. Eleven weeks after applicaton. total aldicarb residues in the follige stem and cotton seed grown in pots were 3.38, 1.61 and 0.83 mg/kg, respectively, in the field experiment these values were 3.42, 1.62 and 0.65 mg/kg, respectively. Sixteen weeks after aplication, total aldicarb residues in the foliage, stem and cotton seed grown in pots were 1.45, 1.41 and 0.63 mg/kg respectively, in the field experiment these values were 1.42, 1.02 and 0.44 mg/kg, respectively. The aldicarb residue in soil samples was less then plant samples
Havelsan'ın tarihçesi, savunma sanayi üzerindeki etkileri ve türk ekonomisi'ne katkıları
Ankara : İhsan Doğramacı Bilkent Üniversitesi İktisadi, İdari ve Sosyal Bilimler Fakültesi, Tarih Bölümü, 2016.This work is a student project of the The Department of History, Faculty of Economics, Administrative and Social Sciences, İhsan Doğramacı Bilkent University.by Pamuk, Fatih
Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability
Intellectual disability (ID) has a prevalence of 2–3% with 0.3% of the population being severely retarded. Etiology is heterogeneous, owing to numerous genetic and environmental factors. Underlying etiology remains undetermined in 75–80% of mildly disabled patients and 20–50% of those severely disabled. Twelve percent of all ID is thought to be X-linked (XLID). This study covers copy number analysis of some of the known XLID genes, using multiplex ligation-dependent probe amplification (MLPA) in 100 nonsyndromic patients. One of the patients was found to have duplication in all exons of MECP2 gene, and another had duplication in the fifth exon of TM4SF2/TSPAN7 gene. Affymetrix® 6.0 whole-genome SNP microarray confirmed the duplication in MECP2 and showed duplication of exons 2–7 in TM4SF2/TSPAN7, respectively. MECP2 duplication has recently been recognized as a syndromic cause of XLID in males, whereas duplications in TM4SF2/TSPAN7 are yet to be determined as a cause of XLID. Being an efficient, rapid, easy-to-perform, easy-to-interpret, and cost-effective method of copy number analysis of specific DNA sequences, MLPA presents wide clinical utility and may be included in diagnostic workup of ID, particularly when microarrays are unavailable as a first-line approach
Investigation of VEGF and IL-8 Gene Polymorphisms in Patients with Differentiated Thyroid Cancer
Background: Differentiated thyroid carcinomas (DTC) account for most of the thyroid cancers. The emergence of DTC may be affected by various predisposing genetic alterations and environmental factors The aim of this study was to investigate the role of VEGF C936T and IL-8 A251T gene polymorphisms in the pathogenesis and metastasis of differentiated thyroid cancer