What Is the Important Point Related to Follow-Up Sonographic Evaluation for the Developmental Dysplasia of the Hip?

Developmental dysplasia of the hip (DDH) is an important cause of childhood disability. Subluxation or dislocation can be diagnosed through pediatric physical examination; nevertheless, the ultrasonographic examination is necessary in diagnosing certain borderline cases. It has been evaluated routine sonographic examination of 2,444 hips of 1,222 babies to determine differences in both, developmental dysplasia and types of hips, and evaluated their development on the 3-month follow-up. Evaluating the pathologic alpha angles under 59, there was no statistically significant differences between girls and boys in both right (55.57 +/- 3.73) (56.20 +/- 4.01), (p = 0.480), and left (55.79 +/- 3.96) (57.00 +/- 3.84), (p = 0.160) hips on the 45th day of life. Routine sonographic examinations on the 45th day of life revealed that 51 of (66.2%) 77 type 2a right hips were girls and 26 (33.8%) were boys. The number of the right hips that develop into type 1 was 38 (74.5%) for girls and 26 (100%) for boys on the 90th day of life (p = 0.005). A total of 87 type 2a left hips included 64 girls (73.6%) and 23 boys (26.4%). In the 90th day control, 49 right hip of girls (76.6%) and 21 right hip of boys (91.3%) developed into type 1 (p = 0.126). In the assessment of both left and right hips, girls showed a significantly higher frequency in latency and boys showed significantly higher development in the control sonography. A total of 31 girls (2.5%) and 11 boys (0.9%) accounted for a total of 42 (3.4%) cases who showed bilateral type 2a hips in 1,222 infants. On the 90th day control, 26 girls (83.9%) and all 11 boys (100%) developed into type 1 (p = 0.156). The study emphasizes the importance of the sonographic examination on the 90th day of life. Results of the investigation include the data of sonographic screening of DDH on the 45th day, and also stress the importance of the 90th-day control sonography after a close follow-up with physical examination between 45th and 90th days of life

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates

<p>Abstract</p> <p>Background</p> <p>Ellis-van Creveld (EvC) syndrome is an autosomal recessive chondrodysplastic condition with clinical manifestations that include short-limbs and ribs, postaxial polydactyly and dysplastic nails and teeth. In about two thirds of patients, mutations in either <it>EVC </it>or <it>EVC2 </it>genes have been found to be the underlying cause.</p> <p>Methods</p> <p>In this paper, we describe the molecular (DNA sequencing) and clinical analysis of six children diagnosed with EvC from four different families from the United Arab Emirates (UAE).</p> <p>Results</p> <p>All the children had the common clinical and radiological features of this syndrome. However, DNA sequence analysis of the genes shown to be involved (<it>EVC </it>and <it>EVC2</it>) revealed a novel splice site mutation (c.2047-1G>T) in intron 13 of <it>EVC2 </it>gene in one family. In addition, we confirm previous mutational analyses that showed a truncating mutation in exon 13 of <it>EVC </it>gene (c.1813C>T; p.Q605X) in the second family and a single nucleotide deletion (c.981delG; p.K327<it>fs</it>) in exon 8 of <it>EVC2 </it>gene in the third family. No mutations in the exons, splice sites or the promoter regions of either gene have been found in the index case of the fourth family who exhibited "EvC-like" features.</p> <p>Conclusions</p> <p>Given the small population size of UAE, our data illustrates further the molecular heterogeneity observed in EvC patients and excludes the possibility of a common founder effect for this condition in the UAE reflecting the current ethnic diversity of the country.</p

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

<p>Abstract</p> <p>Background</p> <p>Ellis-van Creveld (EvC) syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth and is inherited in an autosomal recessive pattern. We report a family with complex septal cardiac defects, rhizomelic limb shortening, and polydactyly, without the typical lip, dental, and nail abnormalities of EvC. The phenotype was inherited in an autosomal recessive pattern, with one instance of pseudodominant inheritance.</p> <p>Methods</p> <p>Because of the phenotypic overlap with EvC, microsatellite markers were used to test for linkage to the <it>EVC/EVC2 </it>locus. The results did not exclude linkage, so samples were sequenced for mutations.</p> <p>Results</p> <p>We identified a c.1868T>C mutation in <it>EVC</it>, which predicts p.L623P, and was homozygous in affected individuals.</p> <p>Conclusion</p> <p>We conclude that this <it>EVC </it>mutation is hypomorphic and that such mutations can cause a phenotype of cardiac and limb defects that is less severe than typical EvC. <it>EVC </it>mutation analysis should be considered in patients with cardiac and limb malformations, even if they do not manifest typical EvC syndrome.</p

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

<p>Abstract</p> <p>Background</p> <p>Ellis-van Creveld (EvC) syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth and is inherited in an autosomal recessive pattern. We report a family with complex septal cardiac defects, rhizomelic limb shortening, and polydactyly, without the typical lip, dental, and nail abnormalities of EvC. The phenotype was inherited in an autosomal recessive pattern, with one instance of pseudodominant inheritance.</p> <p>Methods</p> <p>Because of the phenotypic overlap with EvC, microsatellite markers were used to test for linkage to the <it>EVC/EVC2 </it>locus. The results did not exclude linkage, so samples were sequenced for mutations.</p> <p>Results</p> <p>We identified a c.1868T>C mutation in <it>EVC</it>, which predicts p.L623P, and was homozygous in affected individuals.</p> <p>Conclusion</p> <p>We conclude that this <it>EVC </it>mutation is hypomorphic and that such mutations can cause a phenotype of cardiac and limb defects that is less severe than typical EvC. <it>EVC </it>mutation analysis should be considered in patients with cardiac and limb malformations, even if they do not manifest typical EvC syndrome.</p

A Comparative Molecular Dynamics Study of Methylation State Specificity of JMJD2A

Histone modifications have great importance in epigenetic regulation. JMJD2A is a histone demethylase which is selective for di- and trimethyl forms of residues Lys9 and Lys36 of Histone 3 tail (H3K9 and H3K36). We present a molecular dynamics simulations of mono-, di- and trimethylated histone tails in complex with JMJD2A catalytic domain to gain insight into how JMJD2A discriminates between the methylation states of H3K9. The methyl groups are located at specific distances and orientations with respect to Fe(II) in methylammonium binding pocket. For the trimethyllysine the mechanism which provides the effectual orientation of methyl groups is the symmetry, whereas for the dimethyllysine case the determining factors are the interactions between methyllysine head and its environment and subsequently the restriction on angular motion. The occurrence frequency of methyl groups in a certain proximity of Fe(II) comes out as the explanation of the enzyme activity difference on di- and tri-methylated peptides. Energy analysis suggests that recognition is mostly driven by van der Waals and followed by Coulombic interactions in the enzyme-substrate interface. The number (mono, di or tri) and orientations of methyl groups and water molecules significantly affect the extent of van der Waals interaction strengths. Hydrogen bonding analysis suggests that the interaction between JMJD2A and its substrates mainly comes from main chain-side chain interactions. Binding free energy analysis points out Arg8 as an important residue forming an intra-substrate hydrogen bond with tri and dimethylated Lys9 of the H3 chain. Our study provides new insights into how JMJD2A discriminates between its substrates from both a structural and dynamical point of view

Optimal Pretreatment System of Flowback Water from Shale Gas Production

Shale gas has emerged as a potential resource to transform the global energy market. Nevertheless, gas extraction from tight shale formations is only possible after horizontal drilling and hydraulic fracturing, which generally demand large amounts of water. Part of the ejected fracturing fluid returns to the surface as flowback water, containing a variety of pollutants. For this reason, water reuse and water recycling technologies have received further interest for enhancing overall shale gas process efficiency and sustainability. Water pretreatment systems (WPSs) can play an important role for achieving this goal. This paper introduces a new optimization model for WPS simultaneous synthesis, especially developed for flowback water from shale gas production. A multistage superstructure is proposed for the optimal WPS design, including several water pretreatment alternatives. The mathematical model is formulated via generalized disjunctive programming (GDP) and solved by re-formulation as a mixed-integer nonlinear programming (MINLP) problem, to minimize the total annualized cost. Hence, the superstructure allows identifying the optimal pretreatment sequence with minimum cost, according to inlet water composition and wastewater-desired destination (i.e., water reuse as fracking fluid or recycling). Three case studies are performed to illustrate the applicability of the proposed approach under specific composition constraints. Thus, four distinct flowback water compositions are evaluated for the different target conditions. The results highlight the ability of the developed model for the cost-effective WPS synthesis, by reaching the required water compositions for each specified destination

Investigation of the emotional intelligence levels of the athletes in different branches in terms of some demographic variables

The aim of this study is to investigate the Emotional Intelligence (EI) levels of athletes in different branches of sport in terms of some demographic variables. In the study, a 5-dimensional and19-item scale was used, which was developed by Shuutle et al. and then subjected to a validity and reliability study by Lane for use in sports. A total of 480 people participated in the study. It was observed that EI increased significantly in parallel with the increase in age levels, and that the EI levels of team players were found to be significantly higher than that of athletes in individual branches of sport. © Sila Science. All rights reserved

Facial dysmorphism, multiple pigmented nevi, osteoporosis, brachydactyly, and other skeletal changes in a male: a new syndrome?

A adult male is described with facial dysmorphism, multiple pigmented nevi, osteoporosis, and multiple skeletal anomalies. This combination does not fit any known syndromes and may represent a new entity