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Congenital structure abnormality

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https://www.readbyqxmd.com/read/29338614/the-two-mutations-of-actin-myosin-interface-and-their-effect-on-the-dynamics-structures-and-functions-of-skeletal-muscle-actin
#1
Faeze Sadat Mohajer, Sepideh Parvizpour, Jafar Razmara, Mohd Shahir Shamsir
Congenital myopathy is a broad category of muscular diseases with symptoms appearing at the time of birth. One type of congenital myopathy is Congenital Fiber Type Disproportion (CFTD), a severely debilitating disease. The G48D and G48C mutations in the D-loop and the actin-myosin interface are the two causes of CFTD. These mutations have been shown to significantly affect the structure and function of muscle fibers. To the author's knowledge, the effects of these mutations have not yet been studied. In this work, the power stroke structure of the head domain of myosin and the wild and mutated types of actin were modeled...
January 17, 2018: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/29336050/sperm-fluorescent-in-situ-hybridisation-study-of-interchromosomal-effect-in-six-tunisian-carriers-of-reciprocal-and-robertsonian-translocations
#2
A Hajlaoui, W Slimani, M Kammoun, A Sallem, S Braham, M Bibi, A Saad, S Mougou-Zerelli
Carriers of structural chromosomal anomalies, translocations and inversions are at increased risk of aneuploid gametes production. Besides the direct effect on the involved chromosomes, these rearrangements might disturb the segregation of other structurally normal chromosomes during meiosis. Such event is known as interchromosomal effect. In this study, six male carriers of translocations, four reciprocals and two Robertsonians, were investigated. In addition, seven fertile men with normal 46,XY karyotypes and normal sperm characteristics were enrolled as a control group...
January 15, 2018: Andrologia
https://www.readbyqxmd.com/read/29322239/the-lateralized-arcuate-fasciculus-in-developmental-pitch-disorders-among-mandarin-amusics-left-for-speech-and-right-for-music
#3
Xizhuo Chen, Yanxin Zhao, Suyu Zhong, Zaixu Cui, Jiaqi Li, Gaolang Gong, Qi Dong, Yun Nan
The arcuate fasciculus (AF) is a neural fiber tract that is critical to speech and music development. Although the predominant role of the left AF in speech development is relatively clear, how the AF engages in music development is not understood. Congenital amusia is a special neurodevelopmental condition, which not only affects musical pitch but also speech tone processing. Using diffusion tensor tractography, we aimed at understanding the role of AF in music and speech processing by examining the neural connectivity characteristics of the bilateral AF among thirty Mandarin amusics...
January 10, 2018: Brain Structure & Function
https://www.readbyqxmd.com/read/29321672/phenotypic-interpretation-of-complex-chromosomal-rearrangements-informed-by-nucleotide-level-resolution-and-structural-organization-of-chromatin
#4
Cinthya J Zepeda-Mendoza, Alexandra Bardon, Tammy Kammin, David J Harris, Helen Cox, Claire Redin, Zehra Ordulu, Michael E Talkowski, Cynthia C Morton
Molecular characterization of balanced chromosomal abnormalities constitutes a powerful tool in understanding the pathogenic mechanisms of complex genetic disorders. Here we report a male with severe global developmental delay in the presence of a complex karyotype and normal microarray and exome studies. The subject, referred to as DGAP294, has two de novo apparently balanced translocations involving chromosomes 1 and 14, and chromosomes 4 and 10, disrupting several different transcripts of adhesion G protein-coupled receptor L2 (ADGRL2) and protocadherin 15 (PCDH15)...
January 10, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29317056/a-potentially-curative-fetal-intervention-for-hypoplastic-left-heart-syndrome
#5
Andrew T Hattam
Hypoplastic left heart syndrome (HLHS) encapsulates a spectrum of complex congenital cardiovascular malformations involving varying degrees of underdevelopment of the left-sided heart structures. However, despite improved survival rates since the introduction of staged surgical reconstruction, treatment options for HLHS remain palliative rather than curative. A major limiting factor in the development of definitive curative therapy for HLHS is an incomplete understanding of its pathogenesis. Currently, the aetiology HLHS is best conceptualised by the 'flow theory' of cardiogenesis, which states that normal cardiac development is reliant on the interrelationship of normal flow patterns of blood through the developing heart, and appropriate growth of the cardiac valves and myocardium...
January 2018: Medical Hypotheses
https://www.readbyqxmd.com/read/29279279/characterization-of-a-novel-variant-in-siblings-with-asparagine-synthetase-deficiency
#6
Stephanie J Sacharow, Elizabeth E Dudenhausen, Carrie L Lomelino, Lance Rodan, Christelle Moufawad El Achkar, Heather E Olson, Casie A Genetti, Pankaj B Agrawal, Robert McKenna, Michael S Kilberg
Asparagine Synthetase Deficiency (ASD) is a recently described inborn error of metabolism caused by bi-allelic pathogenic variants in the asparagine synthetase (ASNS) gene. ASD typically presents congenitally with microcephaly and severe, often medically refractory, epilepsy. Development is generally severely affected at birth. Tone is abnormal with axial hypotonia and progressive appendicular spasticity. Hyperekplexia has been reported. Neuroimaging typically demonstrates gyral simplification, abnormal myelination, and progressive cerebral atrophy...
December 20, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29274845/discovery-of-a-non-nucleoside-rna-polymerase-inhibitor-for-blocking-zika-virus-replication-through-in-silico-screening
#7
Aryamav Pattnaik, Nicholas Palermo, Bikash R Sahoo, Zhe Yuan, Duoyi Hu, Arun S Annamalai, Hiep L X Vu, Ignacio Correas, Pavan Kumar Prathipati, Christopher J Destache, Qingsheng Li, Fernando A Osorio, Asit K Pattnaik, Shi-Hua Xiang
Zika virus (ZIKV), an emerging arbovirus, has become a major human health concern globally due to its association with congenital abnormalities and neurological diseases. Licensed vaccines or antivirals against ZIKV are currently unavailable. Here, by employing a structure-based approach targeting the ZIKV RNA-dependent RNA polymerase (RdRp), we conducted in silico screening of a library of 100,000 small molecules and tested the top ten lead compounds for their ability to inhibit the virus replication in cell-based in vitro assays...
December 21, 2017: Antiviral Research
https://www.readbyqxmd.com/read/29249976/thoracic-aortic-aneurysm-development-in-patients-with-bicuspid-aortic-valve-what-is-the-role-of-endothelial-cells
#8
REVIEW
Vera van de Pol, Kondababu Kurakula, Marco C DeRuiter, Marie-José Goumans
Bicuspid aortic valve (BAV) is the most common type of congenital cardiac malformation. Patients with a BAV have a predisposition for the development of thoracic aortic aneurysm (TAA). This pathological aortic dilation may result in aortic rupture, which is fatal in most cases. The abnormal aortic morphology of TAAs results from a complex series of events that alter the cellular structure and extracellular matrix (ECM) composition of the aortic wall. Because the major degeneration is located in the media of the aorta, most studies aim to unravel impaired smooth muscle cell (SMC) function in BAV TAA...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29249369/a-novel-mutation-in-etfdh-manifesting-as-severe-neonatal-onset-multiple-acyl-coa-dehydrogenase-deficiency
#9
Francois H van der Westhuizen, Izelle Smuts, Engela Honey, Roan Louw, Maryke Schoonen, Lindi-Maryn Jonck, Marli Dercksen
Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD type I) is an autosomal recessive disorder of the electron transfer flavoprotein function characterized by a severe clinical and biochemical phenotype, including congenital abnormalities with unresponsiveness to riboflavin treatment as distinguishing features. From a retrospective study, relying mainly on metabolic data, we have identified a novel mutation, c.1067G>A (p.Gly356Glu) in exon 8 of ETFDH, in three South African Caucasian MADD patients with the index patient presenting the hallmark features of type I MADD and two patients with compound heterozygous (c...
January 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29241391/analysis-of-cystic-hygroma-diagnosed-in-the-prenatal-period-5-years-experience-at-a-tertiary-hospital-in-southeastern-turkey
#10
Hüseyin Çağlayan Özcan, Mete Gurol Uğur, Özcan Balat, Seyhun Sucu, Neslihan Bayramoğlu Tepe, Ebru Öztürk, Özge Kömürcü Karuserci, Tanyeli Güneyligil Kazaz
PURPOSE: Our aim was to evaluate the association of cystic hygroma (CH) with fetal malformations and also to investigate the outcome of fetuses with CH diagnosed in the prenatal period. METHODS: We divided the CH patients into two main groups as isolated CH or CH associated with the congenital structural abnormality (CSA) by measuring the thickness of CH and showing other fetal abnormalities. Pregnancy outcomes were recorded as spontaneous abortion, elective termination, intrauterine death, live birth, postnatal death, and lost to follow-up...
December 27, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29239058/maternal-alcohol-consumption-during-pregnancy-and-its-association-with-offspring-renal-function-at-30-years-observation-from-a-birth-cohort-study
#11
Sumon Kumar Das, Harold David McIntyre, Rosa Alati, Abdullah Al Mamun
AIM: Prenatal exposure to alcohol has adverse ramifications on foetal development resulting in developmental abnormalities and major congenital anomalies. Experimental studies have documented effects on kidney structure and function among offspring exposed to alcohol during foetal life; however, human evidence is scarce. Thus, the present study aimed to determine the development of CKD among a cohort of 30-year-old Australian offspring whose mothers reported consumption of alcohol during pregnancy...
December 14, 2017: Nephrology
https://www.readbyqxmd.com/read/29237141/lessons-from-the-barn-to-the-operating-suite-a-comprehensive-review-of-animal-models-for-fetal-surgery
#12
Sandra K Kabagambe, Chelsey J Lee, Laura F Goodman, Y Julia Chen, Melissa A Vanover, Diana L Farmer
The International Fetal Medicine and Surgery Society was created in 1982 and proposed guidelines for fetal interventions that required demonstrations of the safety and feasibility of intended interventions in animal models prior to application in humans. Because of their short gestation and low cost, small animal models are useful in early investigation of fetal strategies. However, owing to the anatomic and physiologic differences between small animals and humans, repeated studies in large animal models are usually needed to facilitate translation to humans...
December 13, 2017: Annual Review of Animal Biosciences
https://www.readbyqxmd.com/read/29234357/neonatal-arrhythmias-diagnosis-treatment-and-clinical-outcome
#13
REVIEW
Ji-Eun Ban
Arrhythmias in the neonatal period are not uncommon, and may occur in neonates with a normal heart or in those with structural heart disease. Neonatal arrhythmias are classified as either benign or nonbenign. Benign arrhythmias include sinus arrhythmia, premature atrial contraction, premature ventricular contraction, and junctional rhythm; these arrhythmias have no clinical significance and do not need therapy. Supraventricular tachycardia, ventricular tachycardia, atrioventricular conduction abnormalities, and genetic arrhythmia such as congenital long-QT syndrome are classified as nonbenign arrhythmias...
November 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29233624/first-and-second-trimester-screening-for-fetal-structural-anomalies
#14
REVIEW
Lindsay Edwards, Lisa Hui
Fetal structural anomalies are found in up to 3% of all pregnancies and ultrasound-based screening has been an integral part of routine prenatal care for decades. The prenatal detection of fetal anomalies allows for optimal perinatal management, providing expectant parents with opportunities for additional imaging, genetic testing, and the provision of information regarding prognosis and management options. Approximately one-half of all major structural anomalies can now be detected in the first trimester, including acrania/anencephaly, abdominal wall defects, holoprosencephaly and cystic hygromata...
December 9, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29229509/diagnosis-of-congenital-abnormalities-with-post-mortem-ultrasound-in-perinatal-death
#15
L Tuchtan, E Lesieur, C Bartoli, C Delteil, L Sarda-Quarello, J Torrents, S Sigaudy, M-D Piercecchi, G Gorincour
PURPOSE: To determine the sensitivity and specificity of post-mortem ultrasound in the diagnosis of major congenital abnormalities of fetuses using conventional autopsy as the standard of reference. MATERIAL AND METHODS: All fetuses coming from terminations of pregnancy or intrauterine fetal deaths in a single institution were included. A total of 75 fetuses were included during the study period. The results of post-mortem ultrasound examinations were compared to those of conventional autopsy that served as standard of reference...
December 8, 2017: Diagnostic and Interventional Imaging
https://www.readbyqxmd.com/read/29229467/renal-involvement-in-pmm2-cdg-a-mini-review
#16
REVIEW
Ruqaiah Altassan, Peter Witters, Zubaida Saifudeen, Dulce Quelhas, Jaak Jaeken, Elena Levtchenko, David Cassiman, Eva Morava
Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common N-linked glycosylation disorder. The majority of patients present with a multisystem phenotype, including central nervous system involvement, hepatopathy, gastrointestinal and cardiac symptoms, endocrine dysfunction and abnormal coagulation. Renal abnormalities including congenital malformations and altered renal function are part of the multisystem manifestations of congenital disorders of glycosylation. We reviewed the literature on 933 patients with molecularly and/or enzymatically confirmed PMM2 deficiency to evaluate the incidence of renal involvement in PMM2-CDG...
November 28, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29221514/yield-of-brain-mri-in-clinically-diagnosed-epilepsy-in-the-kingdom-of-bhutan-a-prospective-study
#17
Veronica Bruno, Joshua P Klein, Dechen Nidup, Damber K Nirola, Lhab Tshering, Sonam Deki, Sarah J Clark, Kristin A Linn, Russell T Shinohara, Chencho Dorji, Dili Ram Pokhrel, Ugyen Dema, Farrah J Mateen
BACKGROUND: People with epilepsy (PWE) in low- and middle-income countries may not access the health resources that are considered optimal for epilepsy diagnosis. The diagnostic yield of magnetic resonance imaging (MRI) has not been well studied in these settings. OBJECTIVES: To report the diagnostic yield of brain MRI and identify clinical associations of abnormal MRI findings among PWE in a neurocysticercosis-endemic, resource-limited setting and to identify the proportion and putative structural brain causes of drug-resistant epilepsy...
May 2017: Annals of Global Health
https://www.readbyqxmd.com/read/29199884/congenital-cavitary-optic-disc-anomaly-and-axenfeld-s-anomaly-in-wolf-hirschhorn-syndrome-a-case-report-and-review-of-the-literature
#18
Mohsin H Ali, Nathalie F Azar, Vinay Aakalu, Felix Y Chau, Javaneh Abbasian, Pete Setabutr, Irene H Maumenee
BACKGROUND: Wolf-Hirschhorn syndrome is a rare genetic syndrome caused by a heterozygous deletion on chromosome 4p16.3 and is characterized by a "Greek warrior helmet" facies, hypotonia, developmental delay, seizures, structural central nervous system defects, intrauterine growth restriction, sketelal anomalies, cardiac defects, abnormal tooth development, and hearing loss. A variety of ocular manifestations may occur in up to 40% of patients. MATERIALS/METHODS: We report the genetic testing results, systemic findings, and complete ophthalmologic examination findings in a patient with Wolf-Hirschhorn syndrome, including external photography, RetCam3 (Clarity Medical Systems, Pleasonton, CA) goniography, and fundus photography...
December 4, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29195821/early-implant-placement-for-a-patient-with-ectodermal-dysplasia-thirteen-years-of-clinical-care
#19
Lisa A Knobloch, Peter E Larsen, Paola C Saponaro, Emilie L'Homme-Langlois
Patients with ectodermal dysplasia have abnormalities of 2 or more structures that originate from the ectoderm. The oral manifestations often include the congenital absence of teeth and malformed teeth. This clinical report describes the interdisciplinary care from childhood through the definitive dental rehabilitation completed at skeletal maturation to replace the missing teeth in a patient with ectodermal dysplasia. Treatment began at 9 years of age with an implant-assisted mandibular overdenture to improve function and replace the missing mandibular teeth...
November 29, 2017: Journal of Prosthetic Dentistry
https://www.readbyqxmd.com/read/29191403/laminin-deficient-muscular-dystrophy-molecular-pathogenesis-and-structural-repair-strategies
#20
REVIEW
Peter D Yurchenco, Karen K McKee, Judith R Reinhard, Markus A Rüegg
Laminins are large heterotrimers composed of the α, β and γ subunits with distinct tissue-specific and developmentally regulated expression patterns. The laminin-α2 subunit, encoded by the LAMA2 gene, is mainly expressed in skeletal muscle, Schwann cells of the peripheral nerve and astrocytes and pericytes of the capillaries in the brain. Mutations in LAMA2 cause the most common type of congenital muscular dystrophies, called LAMA2 MD or MDC1A. The disorder manifests mostly as a muscular dystrophy but slowing of nerve conduction contributes to the disease...
November 27, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
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