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Congenital malformation

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https://www.readbyqxmd.com/read/28231309/improving-molecular-diagnosis-of-aniridia-and-wagr-syndrome-using-customized-targeted-array-based-cgh
#1
Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton
Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases. First-tier genetic testing for newborn with aniridia, to detect 11p13 rearrangements, includes Multiplex Ligation-dependent Probe Amplification (MLPA) and karyotyping. However, neither of these approaches allow obtaining a complete picture of the high complexity of chromosomal deletions and breakpoints in aniridia. Here, we report the development and validation of a customized targeted array-based comparative genomic hybridization, so called WAGR-array, for comprehensive high-resolution analysis of CNV in the WAGR locus...
2017: PloS One
https://www.readbyqxmd.com/read/28231076/congenital-vascular-malformations-of-the-liver-an-association-with-trisomy-21
#2
Mark Davenport
No abstract text is available yet for this article.
March 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28231075/congenital-vascular-malformations-are-associated-with-trisomy-21
#3
Henrik Arnell, Björn Fischler
No abstract text is available yet for this article.
March 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28230720/role-of-vitamin-a-retinoic-acid-in-regulation-of-embryonic-and-adult-hematopoiesis
#4
REVIEW
Ana Cañete, Elena Cano, Ramón Muñoz-Chápuli, Rita Carmona
Vitamin A is an essential micronutrient throughout life. Its physiologically active metabolite retinoic acid (RA), acting through nuclear retinoic acid receptors (RARs), is a potent regulator of patterning during embryonic development, as well as being necessary for adult tissue homeostasis. Vitamin A deficiency during pregnancy increases risk of maternal night blindness and anemia and may be a cause of congenital malformations. Childhood Vitamin A deficiency can cause xerophthalmia, lower resistance to infection and increased risk of mortality...
February 20, 2017: Nutrients
https://www.readbyqxmd.com/read/28230599/a-targeted-next-generation-genetic-sequencing-study-on-tetralogy-of-fallot-combined-with-cleft-lip-and-palate
#5
Lin Liu, Haisong Bu, Yifeng Yang, Zhiping Tan, Fei Zhang, Shijun Hu, Tianli Zhao
BACKGROUND: Congenital heart disease (CHD), plus cleft lip and palate (CLP) are currently the most common types of structural malformation in infants. Many genes have been investigated for their involvement in CHD with CLP. Targeted next-generation sequencing can analyze large amounts of genetic information rapidly, and thus address this question. METHODS: The authors designed a targeted, next-generation sequencing gene panel for 455 genes previously implicated in CHD or CLP...
February 22, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28229343/a-case-of-pancreaticobiliary-maljunction-with-a-connecting-duct-without-a-long-common-channel
#6
Masataka Kikuyama, Terumi Kamisawa, Sawako Kuruma, Kazuro Chiba, Satomi Koizumi, Taku Tabata, Goro Honda
Pancreaticobiliary maljunction (PBM) is a congenital malformation in which the pancreatic and bile ducts join anatomically outside the duodenal wall, usually forming an abnormally long common channel. In PBM, since the long common channel defeats the effect of the sphincter of Oddi, pancreatobiliary reflux frequently occurs, resulting in high rates of biliary tract cancers. We present the case of a 68-year-old female with advanced gallbladder cancer concomitant with bile duct cancer associated with PBM without biliary dilatation that had an extremely rare configuration showing a connecting duct without a long common channel...
February 22, 2017: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/28228731/increased-hemodynamic-load-in-early-embryonic-stages-alters-endocardial-to-mesenchymal-transition
#7
Madeline Midgett, Claudia S López, Larry David, Alina Maloyan, Sandra Rugonyi
Normal blood flow is essential for proper heart formation during embryonic development, as abnormal hemodynamic load (blood pressure and shear stress) results in cardiac defects seen in congenital heart disease. However, the progressive detrimental remodeling processes that relate altered blood flow to cardiac defects remain unclear. Endothelial-mesenchymal cell transition is one of the many complex developmental events involved in transforming the early embryonic outflow tract into the aorta, pulmonary trunk, interventricular septum, and semilunar valves...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28228277/prospects-for-a-zika-virus-vaccine
#8
REVIEW
Dan H Barouch, Stephen J Thomas, Nelson L Michael
A recent unprecedented outbreak of Zika virus (ZIKV) in the Americas has been associated with microcephaly and other congenital malformations in infants as well as Guillain-Barre syndrome in adults. The development of a safe and effective ZIKV vaccine is therefore an urgent global health priority. Promising data from preclinical vaccine studies in mice and monkeys suggest that an effective vaccine will likely be possible, but important scientific challenges remain. Here we review the current state of ZIKV vaccine development...
February 21, 2017: Immunity
https://www.readbyqxmd.com/read/28226083/dengue-infection-in-the-nervous-system-lessons-learned-for-zika-and-chikungunya
#9
Marzia Puccioni-Sohler, Natalia Roveroni, Carolina Rosadas, Fernando Ferry, Jose Mauro Peralta, Amilcar Tanuri
Dengue, Zika and Chikungunya are emerging arboviruses and important causes of acute febrile disease in tropical areas. Although dengue does not represent a new condition, a geographic expansion over time has occurred with the appearance of severe neurological complications. Neglect has allowed the propagation of the vector (Aedes spp), which is also responsible for the transmission of other infections such as Zika and Chikungunya throughout the world. The increased number of infected individuals has contributed to the rise of neurological manifestations including encephalitis, myelitis, meningitis, Guillain-Barré syndrome and congenital malformations such as microcephaly...
February 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28225638/laparoscopic-resection-of-pancreatic-tumors-in-children-results-of-a-multicentric-survey
#10
Ciro Esposito, Pascal De Lagausie, Maria Escolino, Amulya Saxena, George W Holcomb, Alessandro Settimi, Francois Becmeur, David van der Zee
AIM: This study aimed to report the results of a multicentric survey about laparoscopic treatment of pancreatic tumors in children. MATERIALS AND METHODS: The data of patients operated using minimally invasive surgery (MIS) for a pancreatic tumor in 5 International centers of Pediatric Surgery in the last 5 years were retrospectively reviewed. We recorded data relating to the clinical presentation, diagnostic evaluation, surgical technique, and outcome. RESULTS: Fifteen patients (average age 2...
February 22, 2017: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
https://www.readbyqxmd.com/read/28224400/multimodality-imaging-of-pediatric-airways-disease-indication-and-technique
#11
REVIEW
Nicola Stagnaro, Francesca Rizzo, Michele Torre, Giuseppe Cittadini, GianMichele Magnano
Congenital and acquired airway anomalies represent a relatively common albeit diagnostic and therapeutic challenge, even for the most skilled operators in dedicated centers. Airway malformations encompass a wide spectrum of pathologies involving the larynx, trachea and bronchi, esophagus, mediastinal vessels. These developmental lesions are often isolated but the association of two or more anomalies is not infrequent. From the traditional chest X-ray to the newest applications of Optical Coherence Tomography, non- or mini-invasive diagnostic techniques represent useful tools to integrate invasive procedures...
February 21, 2017: La Radiologia Medica
https://www.readbyqxmd.com/read/28224101/vein-of-galen-malformation-in-a-neonate-a-case-report-and-review-of-endovascular-management
#12
Surasak Puvabanditsin, Rajeev Mehta, Kristy Palomares, Natalie Gengel, Christina Ferrucci Da Silva, Sudipta Roychowdhury, Gaurav Gupta, Arun Kashyap, David Sorrentino
Vein of Galen malformation (VOGM) is a rare congenital vascular malformation caused by the maldevelopment of its embryonic precursor, the median prosencephalic vein of Markowski. VOGM results in neonatal morbidity and mortality, and premature delivery does not improve the outcome. We report a term female neonate in whom a vein of Galen malformation was diagnosed prenatally at 37 wk of gestation during a growth ultrasound and confirmed by fetal magnetic resonance imaging. Signs of cardiac decompensation were evident in the fetus...
February 8, 2017: World Journal of Clinical Pediatrics
https://www.readbyqxmd.com/read/28223397/what-people-with-down-syndrome-can-teach-us-about-cardiopulmonary-disease
#13
REVIEW
Kelley L Colvin, Michael E Yeager
Down syndrome is the most common chromosomal abnormality among live-born infants. Through full or partial trisomy of chromosome 21, Down syndrome is associated with cognitive impairment, congenital malformations (particularly cardiovascular) and dysmorphic features. Immune disturbances in Down syndrome account for an enormous disease burden ranging from quality-of-life issues (autoimmune alopecia) to more serious health issues (autoimmune thyroiditis) and life-threatening issues (leukaemia, respiratory tract infections and pulmonary hypertension)...
January 2017: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/28217386/true-oblique-axis-fracture-associated-with-congenital-anomalies-of-the-upper-cervical-spine-case-report-of-an-unusual-fracture-pattern
#14
Luis A Robles
BACKGROUND: Acute traumatic axis fractures are common cervical spine injuries often caused by road accidents or falls. They are usually classified into three different types, namely, odontoid fractures, Hangman's fractures, and miscellaneous fractures. Congenital malformations of the craniovertebral junction (CVJ), although typically asymptomatic, may result in neural compression or instability, especially following trauma. Here, the authors present an unusual oblique axis fracture occurring in conjunction with several malformations of the upper cervical spine...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28215457/synchronous-ipsilateral-cavernous-malformations-of-the-trochlear-nerve
#15
Christopher S Graffeo, William R Copeland, Perkins Mukunyadzi, Ali F Krisht
BACKGROUND: Cranial nerve cavernous malformations (CM) are rare benign congenital vascular anomalies, with approximately 44 preceding cases in the literature. We report the fifth case of trochlear CM, as well as the first instance of two discrete CM occurring simultaneously along the same cranial nerve. METHODS: Case report. RESULTS: A fifty-seven year-old man presented with several years of diplopia; physical examination identified a complete left trochlear nerve paralysis...
February 16, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28213627/real-time-mri-guided-percutaneous-sclerotherapy-of-low-flow-head-and-neck-lymphatic-malformations-in-the-pediatric-population-a-stepwise-approach
#16
Sasan Partovi, Lorenna Vidal, Ziang Lu, Dean A Nakamoto, Ji Buethe, Mark Clampitt, Michael Coffey, Indravadan J Patel
Real-time MRI-guided percutaneous sclerotherapy is a novel and evolving treatment for congenital lymphatic malformations in the head and neck. We elaborate on the specific steps necessary to perform an MRI-guided percutaneous sclerotherapy of lymphatic malformations including pre-procedure patient work-up and preparation, stepwise intraprocedural interventional techniques and post-procedure management. Based on our institutional experience, MRI-guided sclerotherapy with a doxycycline-gadolinium-based mixture as a sclerosant for lymphatic malformations of the head and neck region in children is well tolerated and effective...
February 17, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28213462/discovery-diagnosis-and-etiology-of-craniofacial-ciliopathies
#17
Elizabeth N Schock, Samantha A Brugmann
Seventy-five percent of congenital disorders present with some form of craniofacial malformation. The frequency and severity of these malformations makes understanding the etiological basis crucial for diagnosis and treatment. A significant link between craniofacial malformations and primary cilia arose several years ago with the determination that ∼30% of ciliopathies could be primarily defined by their craniofacial phenotype. The link between the cilium and the face has proven significant, as several new "craniofacial ciliopathies" have recently been diagnosed...
February 17, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28212902/intrauterine-valproate-exposure-is-associated-with-alterations-in-hippocampal-cell-numbers-and-folate-metabolism-in-a-rat-model-of-valproate-teratogenicity
#18
Alexander Semmler, Christian Frisch, Christiane Bleul, Desiree Smith, Laurent Bigler, Jean-Christophe Prost, Henk Blom, Michael Linnebank
PURPOSE: Valproate is one of the most commonly used anticonvulsive drugs. Despite its significant benefits, the teratogenicity of valproate is a relevant problem in the treatment of women of childbearing age. In addition to major congenital malformations, such as neural tube defects, reduced intelligence and attention after intrauterine valproate exposure are reported. Until now the mechanisms of teratogenicity of VPA are poorly understood and concepts how to reduce valproate teratogenicity are lacking...
January 27, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28212403/cerebrospinal-fluid-biomarkers-of-infantile-congenital-hydrocephalus
#19
David D Limbrick, Brandon Baksh, Clinton D Morgan, Gakwaya Habiyaremye, James P McAllister, Terrie E Inder, Deanna Mercer, David M Holtzman, Jennifer Strahle, Michael J Wallendorf, Diego M Morales
INTRODUCTION: Hydrocephalus is a complex neurological disorder with a pervasive impact on the central nervous system. Previous work has demonstrated derangements in the biochemical profile of cerebrospinal fluid (CSF) in hydrocephalus, particularly in infants and children, in whom neurodevelopment is progressing in parallel with concomitant neurological injury. The objective of this study was to examine the CSF of children with congenital hydrocephalus (CHC) to gain insight into the pathophysiology of hydrocephalus and identify candidate biomarkers of CHC with potential diagnostic and therapeutic value...
2017: PloS One
https://www.readbyqxmd.com/read/28211984/prenatal-diagnosis-of-inverted-duplication-deletion-8p-syndrome-mimicking-trisomy-18
#20
Mehmet Ozgur Akkurt, Amanda Higgs, Ozerk T Turan, Ozhan M Turan, Sifa Turan
Inverted duplication deletion of 8p (invdupdel[8p]) is a well-described and uncommon chromosomal rearrangement. The majority of the reported cases have revealed no life-threatening malformations. Although the invdupdel[8p] syndrome in children with central nervous system abnormalities has been reported before, we present the first prenatal microarray diagnosis of invdupdel[8p] syndrome mimicking trisomy 18 due to similar sonographic features. Contrary to reported cases with invdupdel[8p] syndrome, the present case had severe polyvalvular dysplasia and the infant deceased at day 12 of life...
March 2017: American Journal of Medical Genetics. Part A
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