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https://www.readbyqxmd.com/read/29668117/development-of-molecular-therapies-for-venous-malformations
#1
Jaakko Kangas, Marjut Nätynki, Lauri Eklund
Vascular anomalies are localized defects of morphogenesis that can affect lymphatic and blood vessels. They are generally called birthmarks, typically observed soon after birth and occurring in up to 10% of children. Based on their clinical and histological characteristics, they are classified into vascular tumours and vascular malformations. The most common malformations are venous malformations (VMs) resulting in chronic vascular diseases that can be associated with significant morbidity necessitating often demanding and repeating clinical management...
April 18, 2018: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/29667903/posterior-mitral-leaflet-plication-for-hypertrophic-obstructive-cardiomyopathy
#2
Praveen Kerala Varma, Neethu Krishna, Hisham Ahamed, Sujatha Madassery
Anomalies of the mitral valve apparatus in hypertrophic cardiomyopathy are an important cause of systolic anterior motion. Patients with significant residual obstruction due to systolic anterior motion after myectomy and anterior mitral leaflet plication may end up having mitral valve replacement. We describe the case of a 52-year-old man who underwent posterior mitral leaflet plication to correct residual systolic anterior motion after anterior mitral leaflet plication.
January 1, 2018: Asian Cardiovascular & Thoracic Annals
https://www.readbyqxmd.com/read/29667435/clinical-and-surgical-risk-factors-for-consecutive-exotropia
#3
Sophie Bryselbout, Veronique Promelle, Florent Pracca, Solange Milazzo
INTRODUCTION: Consecutive exotropia is one of the complications of esotropia surgery. Its prevalence is estimated at 4%-27%. The aim of this study was to identify the risk factors for consecutive exotropia in the aftermath of surgical treatment of esotropia. METHODS: Seventy-four patients examined in our strabismus consultation for a consecutive exotropia from January 2010 to June 2016 were retrospectively included. The age of onset of esotropia, the presence of amblyopia, the age of esotropia surgery and chosen procedure, the refractive errors, the anomalies of ocular motility, the age of onset of the consecutive exotropia and its angle of deviation were reported...
April 1, 2018: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/29666354/double-trisomy-xxx-21-karyotype-in-a-six-year-old-girl-with-down-phenotype
#4
Laura Daniela Vergara-Mendez, Claudia Talero-Gutiérrez, Alberto Velez-Van-Meerbeke
We describe a case of a six-year-old girl who presents multiple dysmorphic features characteristic of Down's syndrome. She has a significant general developmental delay, with a score that correspond to 32 months of developmental age. This delay is especially in language, with a very scant vocabulary. She communicates with some hand sign words or pointing, although her auditory responses in hearing test were normal. Two previous karyotype studies showed 47, XXX, +21 anomalies. This double trisomy is a rare condition described in isolated cases in the literature and none of these refers to the developmental aspects of these children (Balwan et al...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29666339/phenotypic-characterization-of-derivative-22-syndrome-case-series-and-review
#5
Deepti Saxena, Priyanka Srivastava, Moni Tuteja, Kausik Mandal, Shubha R Phadke
Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males. In 99% of the cases, one of the parents is a carrier of balanced translocation between chromosomes 11 and 22. It occurs due to malsegregation of the gametes with 3:1 segregation. In this case series, we describe four patients with diverse manifestations of this condition...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29666323/schinzel-giedion-syndrome-a-novel-case-review-and-revised-diagnostic-criteria
#6
Wei-Liang Liu, Zhi-Xu He, Fang Li, Rong Ai, Hong-Wei Ma
Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant inheritance disorder. Heterozygous de novo mutations in the SETBP1 gene have been identified as the genetic cause of SGS. Here, we report a novel case with the syndrome with a novel insertion mutation in SETBP1. We also present a review of SGS cases, and first revise diagnostic criteria of SGS based on clinicalfindings and/or SETBP1 mutation worldwide. A revised diagnostic criteria and typing of SGS can be determined. Type I (complex and classic type) SGS patients present a development delay and typical facial features (prominent forehead, midface retraction, and short and upturned nose) associated with hydronephrosis or two of the characteristic skeletal anomalies (a sclerotic skull base, wideoccipital synchondrosis, increased cortical density or thickness, and broad ribs)...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29665342/age-at-time-of-craniosynostosis-repair-predicts-increased-complication-rate
#7
William J Bruce, Victor Chang, Cara J Joyce, Adrienne N Cobb, Uma I Maduekwe, Parit A Patel
OBJECTIVE: This study uses administrative data to assess the optimal timing for surgical repair of craniosynostosis and to identify factors associated with risk of perioperative complications. DESIGN: Statistical analysis of the Healthcare Cost and Utilization Project Kids' Inpatient Database (2006, 2009, 2012). SETTING: KID-participating hospitals in 44 states. PATIENTS: Children 0 to 3 years of age with ICD-9 codes for surgical correction of craniosynostosis (756 and 0124, 0125, 0201, 0203, 0204, or 0206)...
May 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29665058/testicular-germ-cell-apoptosis-and-sperm-defects-in-mice-upon-long-term-high-fat-diet-feeding
#8
Songita Ghosh, Sutapa Mukherjee
The growing prevalence of male infertility is a matter of serious concern. One of the putative causes being nutritional excess from continuous consumption of high fat diet (HFD) leading to insulin resistance albeit the specific relationship is not fully understood. Besides, there are many contradictions in the available literature on the subject. Therefore, we sought to characterize in detail the effects of HFD upon testicular function and sperm quality in mice with particular focus on isolated testicular germ cells and spermatozoa, respectively...
April 17, 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29664512/short-stature-and-hypothyroidism-in-a-child-with-nail-patella-syndrome-a-case-report
#9
C Goecke, C Mellado, C García, H García
BACKGROUND: Nail-Patella syndrome (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by skeletal anomalies, nail dysplasia, renal and ocular abnor malities. The diagnosis is based on clinical and radiological findings and confirmed by the identification of a heterozygous pathogenic variant in the LMX1B gene. Management of these patients involves conti nuous follow-up and treatment ofthe orthopedical, ocular and renal problems that mayoccur...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29664449/neurometabolic-disorders-and-congenital-malformations-of-the-central-nervous-system
#10
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/29664156/circumflex-aorta-with-double-aortic-arch-in-an-infant
#11
Ziyad M Binsalamah, Martin A Chacon-Portillo, Amy Sanyahumbi, Iki Adachi, Jeffrey S Heinle, Charles D Fraser, Carlos M Mery
Circumflex aorta and double aortic arch are two forms of rare vascular rings. We present a case of an infant who was diagnosed with circumflex aorta and double aortic arch, and describe the surgical management of this rare anomaly.
April 17, 2018: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/29664026/prenatal-screening-for-genetic-disorders-suggested-guidelines-for-the-indian-scenario
#12
REVIEW
Shubha R Phadke, Ratna D Puri, Prajnya Ranganath
Prenatal testing is the best strategy for reducing the burden of genetic disorders and congenital disabilities that cause significant postnatal functional impairment. Universal prenatal screening is advisable for common genetic disorders and congenital anomalies such as Down syndrome, beta-thalassaemia and neural tube defects. Several prenatal-screening tests are now available for Down syndrome, but knowledge about the appropriate timing of the test and the need for pre- and post-test counselling may not be updated among the primary care physicians...
December 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/29663733/magnetic-resonance-microscopy-of-chemically-fixed-human-embryos-performed-in-university-of-tsukuba-since-1999-to-2015
#13
Katsumi Kose
Magnetic resonance (MR) microscopy of chemically fixed human embryos performed in University of Tsukuba since 1999 to 2015 was reviewed. More than 1,000 chemically fixed human embryos stored in the Congenital Anomaly Research Center of Kyoto University were used throughout the MR microscopy project, which was divided into three terms. In the first term (1999-2005), 3D MR images of 1,204 embryo specimens were acquired with 128 × 128 × 256 voxels by a super-parallel MR microscope using a 2.35 T horizontal-bore superconducting magnet...
April 17, 2018: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/29663720/the-40th-anniversary-of-the-congenital-anomaly-research-center-kyoto-university-graduate-school-of-medicine
#14
Shigehito Yamada, Momoko Nagai, Masatoshi Hagiwara
The Congenital Anomaly Research Center at Kyoto University's Graduate School of Medicine was established in 1975; in 2015 the center celebrated its 40th anniversary. The celebration of this anniversary included three special projects: (1) forming an achievement list, (2) preparing for a specimen exhibition, and (3) holding an anniversary symposium. This special issue of The Anatomical Record is devoting to detailing these anniversary projects. Anat Rec, 2018. © 2018 Wiley Periodicals, Inc.
April 17, 2018: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/29663673/developing-the-digital-kyoto-collection-in-education-and-research
#15
Mark Anthony Hill
The Kyoto embryo collection was begun in 1961 by Dr. Hideo Nishimura. The collection has been continuously developed and currently contains over 44,000 human normal and abnormal specimens. Beginning online in 1997, the internet provided an opportunity to make embryos from the collection widely available for research and educational purposes (http://tiny.cc/Embryo). These embryonic development resources have been continuously published and available from that time until today. Published in Japanese as an Atlas of Embryonic Development...
April 16, 2018: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/29663647/novel-de-novo-pathogenic-variant-in-the-nr2f2-gene-in-a-boy-with-congenital-heart-defect-and-dysmorphic-features
#16
Jariya Upadia, Patrick R Gonzales, Nathaniel H Robin
The NR2F2 gene plays an important role in angiogenesis and heart development. Moreover, this gene is involved in organogenesis in many other organs in mouse models. Variants in this gene have been reported in a number of patients with nonsyndromic atrioventricular septal defect, and in one patient with congenital heart defect and dysmorphic features. Here we report an 11-month-old Caucasian male with global developmental delay, dysmorphic features, coarctation of the aorta, and ventricular septal defect. He was later found to have a pathogenic mutation in the NR2F2 gene by whole exome sequencing...
April 16, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29663406/extreme-mid-winter-drought-weakens-tree-hydraulic-carbohydrate-systems-and-slows-growth
#17
J Mason Earles, Jens T Stevens, Or Sperling, Jessica Orozco, Malcolm P North, Maciej A Zwieniecki
Rising temperatures and extended periods of drought compromise tree hydraulic and carbohydrate systems, threatening forest health globally. Despite winter's biological significance to many forests, the effects of warmer and dryer winters on tree hydraulic and carbohydrate status have largely been overlooked. Here we report a sharp and previously unknown decline in stem water content of three conifer species during California's anomalous 2015 mid-winter drought that was followed by dampened spring starch accumulation...
April 16, 2018: New Phytologist
https://www.readbyqxmd.com/read/29663112/extramucosal-pyriplasty-without-stenting-for-management-of-pyriform-aperture-stenosis
#18
Remon Bazak, Ahmed Aly Ibrahim, Wael K A Hussein, Mustafa Mohamed Abdelnaby, Samy Elwany
PURPOSE: The current management options of congenital pyriform aperture stenosis (CNPAS) are either conservative measures awaiting further growth of the bony nasal framework or surgical intervention that focuses on bone removal from the margin of the pyriform aperture (PA) without exposure of the nasolacrimal duct (NLD) followed by stenting. Recently, CT measurements of the nasal cavity in CNPAS have shed light that the site of maximal bony obstruction corresponds to the bony buttress encasing the NLD rather than the margin of the PA as initially thought...
April 16, 2018: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/29663010/septo-optic-dysplasia-assessment-of-associated-findings-with-special-attention-to-the-olfactory-sulci-and-tracts
#19
John C Benson, David Nascene, Charles Truwit, Alexander M McKinney
PURPOSE: Septo-optic dysplasia is a congenital disorder consisting of optic nerve hypoplasia and absent septum pellucidum. While associated anomalies have been described, olfactory sulcus and bulb-tract hypoplasia have been scantily reported and was the focus of this study. METHODS: The picture archival and communications system and radiology information system (PACS-RIS) was searched over 15 years for patients with suspected septo-optic dysplasia (n = 41) and cerebral magnetic resonance imaging (MRI)...
April 16, 2018: Clinical Neuroradiology
https://www.readbyqxmd.com/read/29662811/management-of-coronary-sinus-ostial-atresia-during-a-staged-operation-of-a-functional-single-ventricle
#20
Seung Ri Kang, Won Kyoun Park, Bo Sang Kwon, Jae Kon Ko, Hyun Woo Goo, Jeong-Jun Park
Coronary sinus ostial atresia (CSOA) with persistent left superior vena cava (LSVC) in the absence of an unroofed coronary sinus is a benign and rare anomaly that may be taken lightly in most instances. However, if overlooked in patients undergoing univentricular heart repair such as bidirectional Glenn or Fontan-type surgery, fatal surgical outcomes may occur due to coronary venous drainage failure. We report a case of CSOA with a persistent LSVC that was managed through coronary sinus rerouting during a total cavopulmonary connection, and provide a review of the literature regarding this rare anomaly...
April 2018: Korean Journal of Thoracic and Cardiovascular Surgery
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