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Congenital structure abnormality

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https://www.readbyqxmd.com/read/29775450/-congenital-megacalycosis-in-a-girl-with-unilateral-renal-agenesis
#1
Agnieszka Szmigielska, Grażyna Krzemień, Anna Zacharzewska, Teresa Dudek-Warchoł, Stanisław Warchoł
Renal agenesis occurs in pediatric population with the incidence 1:500- 2000 children. It is more often diagnosed in boys and on the left side of the body. Renal agenesis may be isolated or it may be a part of complex malformation syndrome. Megacalycosis is a very rare anomaly of urinary tract associated with abnormal structure of the kidney pyramids. AIM: The aim of the study was to present for the first time in the medical literature the case of a girl with unilateral renal agenesis and megacalycosis...
April 23, 2018: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29771303/visual-impairment-and-progressive-phthisis-bulbi-caused-by-recessive-pathogenic-variant-in-mark3
#2
Muhammad Ansar, Hyunglok Chung, Yar M Waryah, Periklis Makrythanasis, Emilie Falconnet, Ali Raza Rao, Michel Guipponi, Ashok K Narsani, Ralph Fingerhut, Federico A Santoni, Emmanuelle Ranza, Ali M Waryah, Hugo J Bellen, Stylianos E Antonarakis
Developmental eye defects often severely reduce vision. Despite extensive efforts, for a substantial fraction of these cases the molecular causes are unknown. Recessive eye disorders are frequent in consanguineous populations and such large families with multiple affected individuals provide an opportunity to identify recessive causative genes. We studied a Pakistani consanguineous family with three affected individuals with congenital vision loss and progressive eye degeneration. The family was analyzed by exome sequencing of one affected individual and genotyping of all family members...
May 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29768589/women-s-lives-in-times-of-zika-mosquito-controlled-lives
#3
Ana Rosa Linde, Carlos Eduardo Siqueira
Zika virus infection during pregnancy is a cause of congenital brain abnormalities. Its consequences to pregnancies has made governments, national and international agencies issue advices and recommendations to women. There is a clear need to investigate how the Zika outbreak affects the decisions that women take concerning their lives and the life of their families, as well as how women are psychologically and emotionally dealing with the outbreak. We conducted a qualitative study to address the impact of the Zika epidemic on the family life of women living in Brazil, Puerto Rico, and the US, who were affected by it to shed light on the social repercussions of Zika...
May 10, 2018: Cadernos de Saúde Pública
https://www.readbyqxmd.com/read/29760780/derivative-chromosomes-involving-5p-large-rearranged-segments-went-unnoticed-with-the-use-of-conventional-cytogenetics
#4
Emiy Yokoyama, Victoria Del Castillo, Silvia Sánchez, Sandra Ramos, Bertha Molina, Leda Torres, María José Navarro, Silvia Avila, José Luis Castrillo, Benilde García-De Teresa, Bárbara Asch, Sara Frías
Background: In countries where comparative genomic hybridization arrays (aCGH) and next generation sequencing are not widely available due to accessibility and economic constraints, conventional 400-500-band karyotyping is the first-line choice for the etiological diagnosis of patients with congenital malformations and intellectual disability. Conventional karyotype analysis can rule out chromosomal alterations greater than 10 Mb. However, some large structural abnormalities, such as derivative chromosomes, may go undetected when the analysis is performed at less than a 550-band resolution and the size and banding pattern of the interchanged segments are similar...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29756610/the-hump-columellar-strut-a-reliable-technique-for-correction-of-nasal-tip-underprojection
#5
P G Giacomini, S Mocella, S DI Girolamo, R DE Berardinis, A Boccieri
Nasal tip under projection is often found in rhinoplasty cases both for congenital or post-traumatic deformity. Nasal trauma may result in alteration of the external and internal nasal structures with following aesthetic impairment and difficulties in breathing. Post-traumatic surgery is frequent, but restoration of pre-traumatic form and function remains a challenge. The present paper describes a new method to increase tip projection by a columellar strut harvested from the autologous nasal bone and cartilage of the resected hump...
February 2018: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/29752552/collagen-vi-is-required-for-the-structural-and-functional-integrity-of-the-neuromuscular-junction
#6
Matilde Cescon, Ilaria Gregorio, Nane Eiber, Doriana Borgia, Aurora Fusto, Patrizia Sabatelli, Michele Scorzeto, Aram Megighian, Elena Pegoraro, Said Hashemolhosseini, Paolo Bonaldo
The synaptic cleft of the neuromuscular junction (NMJ) consists of a highly specialized extracellular matrix (ECM) involved in synapse maturation, in the juxtaposition of pre- to post-synaptic areas, and in ensuring proper synaptic transmission. Key components of synaptic ECM, such as collagen IV, perlecan and biglycan, are binding partners of one of the most abundant ECM protein of skeletal muscle, collagen VI (ColVI), previously never linked to NMJ. Here, we demonstrate that ColVI is itself a component of this specialized ECM and that it is required for the structural and functional integrity of NMJs...
May 11, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29738718/bilateral-thalamocortical-abnormalities-in-focal-cortical-dysplasia
#7
Arthur Rezayev, Henry A Feldman, Jacob Levman, Emi Takahashi
BACKGROUND AND PURPOSE: Focal cortical dysplasia (FCD), a congenital malformation of the neocortex and one of the most common causes of medication resistant epilepsy in pediatric populations, can be studied noninvasively by diffusion tensor imaging (DTI). The present study aimed to quantify changes in the thalamus and thalamocortical pathways with respect to fractional anisotropy (FA), apparent diffusion coefficient (ADC), volume, and other common measures. MATERIALS & METHODS: The study quantified data collected from pediatric patients with a prior diagnosis of FCD; 75 patients (35 females, 10...
May 5, 2018: Brain Research
https://www.readbyqxmd.com/read/29731120/clinical-and-echocardiographic-prevalence-and-detection-of-congenital-and-acquired-cardiac-abnormalities-in-girls-and-women-with-the-turner-syndrome
#8
Anji T Yetman, Lois Starr, Jennifer Sanmann, Megan Wilde, Mary Murray, Jonathan W Cramer
The prevalence of congenital and acquired heart disease in patients with the Turner syndrome (TS) is based on historic cohorts who underwent imaging before the advent of modern day echocardiography. Recent small studies suggest a higher prevalence of cardiac defects. We reviewed clinical and echocardiographic data on 564 girls and women with TS to assess the prevalence of cardiac defects. Echocardiographic review on a subset of this population was performed to assess for diagnostic limitations of echocardiography in assessing for congenital and acquired defects in this patient cohort...
April 17, 2018: American Journal of Cardiology
https://www.readbyqxmd.com/read/29724491/clinical-presentation-of-a-complex-neurodevelopmental-disorder-caused-by-mutations-in-adnp
#9
Anke Van Dijck, Anneke T Vulto-van Silfhout, Elisa Cappuyns, Ilse M van der Werf, Grazia M Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, Malin Kvarnung, Tjitske Kleefstra, Bert B A de Vries, Sébastien Küry, Jill A Rosenfeld, Marije E Meuwissen, Geert Vandeweyer, R Frank Kooy
BACKGROUND: In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. However, a comprehensive clinical description of the Helsmoortel-Van der Aa syndrome is lacking. METHODS: We identified a worldwide cohort of 78 individuals with likely disruptive mutations in ADNP from January 2014 to October 2016 through systematic literature search, by contacting collaborators, and through direct interaction with parents...
March 15, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29707177/identification-of-a-novel-non-sense-mutation-in-tbx5-gene-in-pediatric-patients-with-congenital-heart-defects
#10
Mehri Khatami, Mohammad Mehdi Heidari, Fatemeh Kazeminasab, Razieh Zare Bidaki
Introduction: Congenital heart diseases (CHDs) are structural cardiovascular malformations that arise from abnormal development of the heart during the prenatal life. Mutations in the TBX5 gene, encoding T-box transcription factor, are a major cause of CHD. To evaluate the TBX5 mutations in hotspot exons in sporadic pediatric patients with CHD phenotypes, analytical case/control study performed in an Iranian cohort of unrelated patients with clinical diagnosis of congenital heart malformations. Methods: We investigated TBX5 coding exons 4, 5, 6 and 7 in 95 sporadic patients with CHD phenotypes and compared to 82 healthy controls using PCR-SSCP and DNA sequencing approaches...
2018: Journal of Cardiovascular and Thoracic Research
https://www.readbyqxmd.com/read/29705173/ultrasonographic-prenatal-imaging-of-fetal-ocular-and-orbital-abnormalities
#11
REVIEW
Courtney L Ondeck, Dolores Pretorius, Jill McCaulley, Michael Kinori, Theresa Maloney Rdms, Andrew Hull, Shira L Robbins
Technological progress in medicine has provided earlier diagnosis, even in the prenatal period. We address ultrasonographic imaging of the prenatal eye and orbit. During development of these structures, multiple pathologies and diseases can arise. Orbital anomalies can be detected prenatally using ultrasound or MRI. Some of these include congenital cataracts, hypertelorism, hypotelorism, dacryocystocele, microphthalmia, anophthalmia, orbital tumors/masses, and septo-optic dysplasia. We describe characteristic ultrasound findings of these diseases...
April 26, 2018: Survey of Ophthalmology
https://www.readbyqxmd.com/read/29703688/histological-and-morphological-characteristics-of-the-prepuce-of-penis-skin-structure-in-different-age-groups
#12
A Dossanova, V Lozovoy, K Manekenova, Y Lozovaya, M Seidakhmetov, B Dossanov, T Omarov, A Botabaeva, A Shakeeva, Z Baubekov
BACKGROUND: Hypospadias is one of the most common congenital abnormalities in childhood. The number of cases has rapidly grown in recent years. OBJECTIVES: The purpose of this research was to analyze the histological and morphological differences of the foreskin samples taken from boys in three age groups. STUDY DESIGN: A total of 30 Asian patients participated in the research. Clinical materials obtained via biopsy were divided into three age groups...
March 23, 2018: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29693034/studying-the-determinant-factors-leading-to-congenital-heart-disease-in-newborns
#13
Mohammadhossein Arjmandnia, Mahsa Besharati, Sajad Rezvan
CONTEXT: Congenital heart disease (CHD) is an important cause of death during the 1st year of life and includes a special group of cardiac diseases that exist from birth. These conditions arise due to the abnormal development of an embryo's normal structures. AIMS: A case-control study was conducted to investigate the determinant factors leading to CHD. MATERIALS AND METHODS: All newborns who have been diagnosed with CHD upon echocardiography in 2013 were considered as cases...
2018: Journal of Education and Health Promotion
https://www.readbyqxmd.com/read/29691892/congenital-titinopathy-comprehensive-characterisation-and-pathogenic-insights
#14
Emily C Oates, Kristi J Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E Smith, James S Ware, Kyle S Yau, Lindsay C Swanson, Nicola Whiffin, Anthony J Peduto, Adam Bournazos, Leigh B Waddell, Michelle A Farrar, Hugo A Sampaio, Hooi Ling Teoh, Phillipa J Lamont, David Mowat, Robin B Fitzsimons, Alastair J Corbett, Monique M Ryan, Gina L O'Grady, Sarah A Sandaradura, Roula Ghaoui, Himanshu B Joshi, Jamie L Marshall, Melinda A Nolan, Simranpreet Kaur, Jaya Punetha, Ana Töpf, Elizabeth Harris, Madhura Bakshi, Casie A Genetti, Minttu Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason R Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, Meganne E Leach, A Reghan Foley, Diana Bharucha-Goebel, James Collins, Anne M Connolly, Heather R Gilbreath, Susan T Iannaccone, Diana Castro, Beryl B Cummings, Richard I Webster, Leïla Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho-Ming Luk, Neil H Thomas, Nicola C Foulds, Marjorie A Illingworth, Sian Ellard, Catriona A McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T Cooper, Erik-Jan Kamsteeg, Eric P Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N North, Nigel F Clarke, Monkol Lek, Alan H Beggs, Carsten G Bönnemann, Daniel G MacArthur, Henk Granzier, Mark R Davis, Nigel G Laing
OBJECTIVE: Comprehensive clinical characterisation of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. METHODS: Using massively parallel sequencing we identified 30 patients from 27 families with two pathogenic nonsense, frameshift and/or splice site TTN mutations in trans. We then undertook a detailed analysis of the clinical, histopathology and imaging features of these patients. RESULTS: All patients had prenatal- or early-onset hypotonia and/or congenital contractures...
April 25, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29686556/usefulness-of-a-left-ventricular-assist-device-in-patients-with-left-ventricular-noncompaction
#15
Helen Hashemi, Fayez S Raza, David M Harmon, Tony Alias, Joost Felius, Melody J Sherwood
Left ventricular noncompaction (LVNC) is a multifactorial structural abnormality of the myocardial wall characterized by prominent trabeculae and deep trabecular recesses. LVNC may present as a congenital or acquired defect characterized by 2 distinct tissue layers: a spongy, noncompacted inner myocardium and a thin, compacted outer myocardium. Patients with LVNC are prone to thromboembolic events, either due to deep trabeculations in the noncompacted myocardium or due to arrhythmias accompanying the defect...
January 2018: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/29685018/three-vessel-trachea-view-in-the-diagnosis-of-fetal-cardiac-great-vessel-malformation
#16
K B Chen, Q Gu, T Xia, X Lu, Z D Zhang
Fetal cardiac great vessel malformation is attracting increasing attention in the prenatal ultrasonic diagnosis of fetal congenital heart disease. To investigate the clinical diagnostic values of three-vessel-trachea view (3VT view) in the ultrasonic diagnosis of this malformation, the present study analyzed the echocardiographic examination results of 77 fetuses with great vessel malformation, retrospectively analyzed the echocardiographic characteristics in the three-vessel-trachea view, and followed up the enrolled cases...
March 2018: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/29684623/decoration-of-rgd-mimetic-porous-scaffolds-with-engineered-and-devitalized-extracellular-matrix-for-adipose-tissue-regeneration
#17
Eleonora Rossi, Julien Guerrero, Paola Aprile, Alessandro Tocchio, Elisabeth A Kappos, Cristina Lenardi, Ivan Martin, Arnaud Scherberich
Fat grafting is emerging as a promising alternative to silicon implants in breast reconstruction surgery. Unfortunately, this approach does not provide a proper mechanical support and is affected by drawbacks such as tissue resorption and donor site morbidity. Synthetic scaffolds can offer a valuable alternative to address these challenges, but poorly recapitulate the biochemical stimuli needed for tissue regeneration. Here, we aim at combining the positive features of a structural, synthetic polymer to an engineered, devitalized extracellular matrix (ECM) to generate a hybrid construct that can provide a mix of structural and biological stimuli needed for adipose tissue regeneration...
April 20, 2018: Acta Biomaterialia
https://www.readbyqxmd.com/read/29682894/3d-analysis-of-human-embryos-and-fetuses-using-digitized-datasets-from-the-kyoto-collection
#18
Tetsuya Takakuwa
Three-dimensional (3D) analysis of the human embryonic and early-fetal period has been performed using digitized datasets obtained from the Kyoto Collection, in which the digital datasets play a primary role in research. Datasets include magnetic resonance imaging (MRI) acquired with 1.5 T, 2.35 T, and 7 T magnet systems, phase-contrast X-ray computed tomography (CT), and digitized histological serial sections. Large, high-resolution datasets covering a broad range of developmental periods obtained with various methods of acquisition are key elements for the studies...
April 23, 2018: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/29664449/neurometabolic-disorders-and-congenital-malformations-of-the-central-nervous-system
#19
Ahmed Y BoAli, Majid Alfadhel, Brahim Tabarki
Both malformations of the central nervous system and neurometabolic disorders are common, mainly in highly consanguineous populations. Both metabolic pathways and developmental pathways are closely related and interact with each other. Neurometabolic disorders can lead to disturbances in brain development through multiple mechanisms that include deficits in energy metabolism, critical nutrient deficiency, accumulation of neurotoxic substrates, abnormality in cell membrane constituents, and interference in cell-to-cell signaling pathways...
April 2018: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/29643925/isolated-double-orifice-mitral-valve-in-a-young-girl
#20
Niloufar Samiei, Hooman Dehghan, Maryam Pourmojib, Ahmad Mohebbi, Saeid Hosseini, Yousef Rezaei
BACKGROUND: Double-orifice mitral valve (DOMV) is an extremely rare cardiac malformation. It has been found to be accompanied by congenital anomalies (CAs), however, it can be detected as an isolated anomaly. The clinical findings of a DOMV are variable and depend predominantly on the associated cardiac abnormalities, particularly atrioventricular septal defects or mitral valve (MV) regurgitation and/or stenosis. CASE REPORT: In this regard, we describe an isolated DOMV in an 18-year-old young girl who complained of a short-term nonspecific chest pain...
November 2017: ARYA Atherosclerosis
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