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Congenital defects

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https://www.readbyqxmd.com/read/28441821/-assessment-of-undiagnosed-critical-congenital-heart-disease-before-discharge-from-the-maternity-hospital
#1
Q M Zhao, F Liu, L Wu, M Ye, B Jia, X J Ma, G Y Huang
Objective: Undiagnosed critical congenital heart disease (CCHD) was assessed before discharge from maternity hospital.Basic information was provided for screening CCHD in the early neonatal stage.Chi-squared test was used for comparison of categorical variables(detection rate of different types of CCHD). Method: A retrospective cohort study was conducted in neonates with CCHD who were admitted to Children's Hospital of Fudan University between 1 January 2012 and 31 December 2015. For comparing with the previously reported undiagnosed rate of CCHD at discharge, CCHD was defined as all duct dependent congenital heart disease (DDCHD) and any cyanotic CHD that required early surgery...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441409/a-hypomorphic-piga-gene-mutation-causes-severe-defects-in-neuron-development-and-susceptibility-to-complement-mediated-toxicity-in-a-human-ipsc-model
#2
Xuan Yuan, Zhe Li, Andrea C Baines, Eleni Gavriilaki, Zhaohui Ye, Zhexing Wen, Evan M Braunstein, Leslie G Biesecker, Linzhao Cheng, Xinzhong Dong, Robert A Brodsky
Mutations in genes involved in glycosylphosphatidylinositol (GPI) anchor biosynthesis underlie a group of congenital syndromes characterized by severe neurodevelopmental defects. GPI anchored proteins have diverse roles in cell adhesion, signaling, metabolism and complement regulation. Over 30 enzymes are required for GPI anchor biosynthesis and PIGA is involved in the first step of this process. A hypomorphic mutation in the X-linked PIGA gene (c.1234C>T) causes multiple congenital anomalies hypotonia seizure syndrome 2 (MCAHS2), indicating that even partial reduction of GPI anchored proteins dramatically impairs central nervous system development, but the mechanism is unclear...
2017: PloS One
https://www.readbyqxmd.com/read/28441238/diaphragm-activation-in-ventilated-patients-using-a-novel-transvenous-phrenic-nerve-pacing-catheter
#3
Steven Reynolds, Adrian Ebner, Tracy Meffen, Viral Thakkar, Matt Gani, Kaity Taylor, Linda Clark, Gautam Sadarangani, Ramasamy Meyyappan, Rodrigo Sandoval, Elizabeth Rohrs, Joaquín A Hoffer
OBJECTIVES: Over 30% of critically ill patients on positive-pressure mechanical ventilation have difficulty weaning from the ventilator, many of whom acquire ventilator-induced diaphragm dysfunction. Temporary transvenous phrenic nerve pacing using a novel electrode-bearing catheter may provide a means to prevent diaphragm atrophy, to strengthen an atrophied diaphragm, and mitigate the harms of mechanical ventilation. We tested the initial safety, feasibility, and impact on ventilation of this novel approach...
April 22, 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28440360/anorectal-malformation-as-a-cause-of-recurring-perineal-abscesses-value-of-anorectal-endosonography-and-magnetic-resonance-imaging-a-case-report
#4
Małgorzata Kołodziejczak, Giulio A Santoro, Jacek Sobocki, Tomasz Szopiński, Anna Wiączek, Iwona Sudoł-Szopińska
Malformations of the rectum and urinary tract frequently coexist, and the prevalence of urogenital defects in patients with a rectal defect ranges from 20 to 54%. In most patients, anorectal malformations are diagnosed and treated surgically in early childhood. In this report, we present a case of a 52-year-old male with a history of urological operations in infancy due to a congenital urethral malformation and multiple recurrent episodes of perineal abscesses with urinary retention. Anorectal endosonography and magnetic resonance imaging revealed the presence of a large cystic lesion adjacent to the rectal wall which became smaller at the level of the puborectalis...
April 22, 2017: Medical Ultrasonography
https://www.readbyqxmd.com/read/28439482/association-of-non-alcoholic-fatty-liver-disease-with-conduction-defects-on-electrocardiogram
#5
Muhammad A Mangi, Abdul M Minhas, Hiba Rehman, Furquan Pathan, Hong Liang, Sary Beidas
BACKGROUND: Non-alcoholic fatty liver disease (NAFLD) is a leading cause of liver disease in developed countries. The association of NAFLD with conduction defects is unknown. The aim of our study was to find whether an association exists between conduction defects and NAFLD. METHODS: This is a case-control retrospective study of 700 patients admitted to Orange Park Medical Center, Orange Park, Florida from 2009 to 2015. Patients with a history of alcohol use, congenital heart disease, infiltrative malignancy, and myocarditis were excluded from the study...
March 21, 2017: Curēus
https://www.readbyqxmd.com/read/28439323/caudal-regression-syndrome-a-case-series-of-a-rare-congenital-anomaly
#6
Yogesh Kumar, Nishant Gupta, Kusum Hooda, Pranav Sharma, Salil Sharma, Puneet Kochar, Daichi Hayashi
BACKGROUND: Caudal regression syndrome is a rare, neural tube defect characterized by an abnormal development of the caudal aspect of the vertebral column and the spinal cord., It results in neurological deficits ranging from bladder and bowel involvement to severe sensory and motor deficits in the lower limbs. Maternal diabetes, genetic factors and some teratogens have been shown to be associated with its pathogenesis. Caudal regression syndrome is usually diagnosed initially by antenatal ultrasound with more definitive diagnosis made by antenatal or postnatal MRI...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28439006/murine-model-indicates-22q11-2-signaling-adaptor-crkl-is-a-dosage-sensitive-regulator-of-genitourinary-development
#7
Meade Haller, Qianxing Mo, Akira Imamoto, Dolores J Lamb
The spectrum of congenital anomalies affecting either the upper tract (kidneys and ureters) or lower tract (reproductive organs) of the genitourinary (GU) system are fundamentally linked by the developmental origin of multiple GU tissues, including the kidneys, gonads, and reproductive ductal systems: the intermediate mesoderm. Although ∼31% of DiGeorge/del22q11.2 syndrome patients exhibit GU defects, little focus has been placed on the molecular etiology of GU defects in this syndrome. Among del22q11.2 patients exhibiting GU anomalies, we have mapped the smallest relevant region to only five genes, including CRKLCRKL encodes a src-homology adaptor protein implicated in mediating tyrosine kinase signaling, and is expressed in the developing GU-tract in mice and humans...
April 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28438836/a-wnt-notch-pax7-signaling-network-supports-tissue-integrity-in-tongue-development
#8
Xiao-Jing Zhu, Xueyan Yuan, Min Wang, Yukun Fang, Yudong Liu, Xiaoyun Zhang, Xueqin Yang, Yan Li, Jianying Li, Feixue Li, Zhong-Min Dai, Mengsheng Qiu, Ze Zhang, Zunyi Zhang
The tongue is one of the major structures involved in human food intake and speech. Tongue malformations such as aglossia, microglossia, and ankyloglossia are congenital birth defects, greatly affecting individuals' quality of life. However, the molecular basis of the tissue-tissue interactions that ensure tissue morphogenesis to form a functional tongue remains largely unknown. Here we show that ShhCre-mediated epithelial deletion of Wntless (Wls), the key regulator for intracellular Wnt trafficking, leads to lingual hypoplasia in mice...
April 24, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28438064/utility-of-fetal-cardiac-magnetic-resonance-imaging-to-assess-fetuses-with-right-aortic-arch-and-right-ductus-arteriosus
#9
Su-Zhen Dong, Zhu Ming
OBJECTIVE: To evaluate the utility of fetal cardiac magnetic resonance imaging (MRI) to diagnose right aortic arch with right ductus arteriosus. METHODS: This retrospective study included six fetuses with right aortic arch and right ductus arteriosus. The six fetal cases were examined using a 1.5-T magnetic resonance unit. The steady-state free precession (SSFP) and single-shot turbo spin echo (SSTSE) sequences were used to evaluate the fetal heart and airway. The gestational age of the six fetuses ranged from 22 to 35 weeks (mean, 26...
April 24, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28437496/novel-solution-for-massive-glenoid-defects-in-shoulder-arthroplasty-a-patient-specific-glenoid-vault-reconstruction-system
#10
David M Dines, Lawrence Gulotta, Edward V Craig, Joshua S Dines
Complex glenoid deformities present the most difficult challenges in shoulder arthroplasty. These deformities may be caused by severe degenerative or congenital deformity, posttraumatic anatomy, tumor, or, in most cases, bone loss after glenoid failure in anatomical total shoulder arthroplasty. Methods of treating severe bone loss have included inlay and onlay bone-graft options with augmented fixation and, in severe cases, salvage hemiarthroplasty with limited goal expectations. Unfortunately, none of these methods has provided consistently satisfactory reproducible results...
March 2017: American Journal of Orthopedics
https://www.readbyqxmd.com/read/28436429/human-fetal-heart-specific-coexpression-network-involves-congenital-heart-disease-defect-candidate-genes
#11
Bo Wang, Guoling You, Qihua Fu
Heart development is a complex process requiring dynamic transcriptional regulation. Disturbance of this process will lead to severe developmental defects such as congenital heart disease/defect (CHD). CHD is a group of complex disorder with high genetic heterogeneity, common pathways associated with CHD remains largely unknown. In the manuscript, we focused on the tissue specific genes in human fetal heart samples to explore such pathways. We used the RNA microarray dataset of human fetal tissues from ENCODE project to identify genes with heart tissue specific expression...
April 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28435681/a-hol-e-y-predicament
#12
Shaiva Ginoya Meka, Daniel Shelden, Amy Mertens, Paul Christensen, Meet Patel
Endocardial cushion defects are congenital abnormalities that result in valvular dysfunction as well as defects (or "holes") in the septa of the heart. They are typically diagnosed in early infancy; presentation late in life is rare. We present the case of a 72-year-old female admitted to the hospital with dyspnoea and palpitations. She was found to have multifocal atrial tachycardia. She suffered cardiac arrest associated with refractory hypoxaemia that required mechanical ventilation and vasodilator therapy with inhaled nitric oxide...
July 2017: Respirology Case Reports
https://www.readbyqxmd.com/read/28434921/identification-of-a-novel-and-functional-mutation-in-the-tbx5-gene-in-a-patient-by-screening-from-354-patients-with-isolated-ventricular-septal-defect
#13
Huan-Xin Chen, Xi Zhang, Hai-Tao Hou, Jun Wang, Qin Yang, Xiu-Li Wang, Guo-Wei He
Ventricular septal defect (VSD) is the most frequently occurring congenital heart disease (CHD) in newborns. A number of genetic studies have linked TBX5 mutations to cardiac abnormalities. We aimed to identify potential pathogenic mutations in TBX5 and to provide insights into the etiology of sporadic and isolated VSD. Case-control mutational and functional analyses were performed in 354 sporadic patients with isolated VSD and 341 controls. All the coding exons and intron-exon boundaries of TBX5 were first sequenced in a group of VSD patients and controls...
April 18, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28434866/lentiviral-vectors-with-cellular-promoters-correct-anemia-and-lethal-bone-marrow-failure-in-a-mouse-model-for-diamond-blackfan-anemia
#14
Shubhranshu Debnath, Pekka Jaako, Kavitha Siva, Michael Rothe, Jun Chen, Maria Dahl, H Bobby Gaspar, Johan Flygare, Axel Schambach, Stefan Karlsson
Diamond-Blackfan anemia is a congenital erythroid hypoplasia and is associated with physical malformations and a predisposition to cancer. Twenty-five percent of patients with Diamond-Blackfan anemia have mutations in a gene encoding ribosomal protein S19 (RPS19). Through overexpression of RPS19 using a lentiviral vector with the spleen focus-forming virus promoter, we demonstrated that the Diamond-Blackfan anemia phenotype can be successfully treated in Rps19-deficient mice. In our present study, we assessed the efficacy of a clinically relevant promoter, the human elongation factor 1α short promoter, with or without the locus control region of the β-globin gene for treatment of RPS19-deficient Diamond-Blackfan anemia...
April 20, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28434863/spatiotemporally-controlled-mechanical-cues-drive-progenitor-mesenchymal-to-epithelial-transition-enabling-proper-heart-formation-and-function
#15
Timothy R Jackson, Hye Young Kim, Uma L Balakrishnan, Carsten Stuckenholz, Lance A Davidson
During early cardiogenesis, bilateral fields of mesenchymal heart progenitor cells (HPCs) move from the anterior lateral plate mesoderm to the ventral midline, undergoing a mesenchymal-to-epithelial transition (MET) en route to forming a single epithelial sheet. Through tracking of tissue-level deformations in the heart-forming region (HFR) as well as movement trajectories and traction generation of individual HPCs, we find that the onset of MET correlates with a peak in mechanical stress within the HFR and changes in HPC migratory behaviors...
April 17, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28434134/pregnancy-outcomes-following-in-utero-exposure-to-lamotrigine-a-systematic-review-and-meta-analysis
#16
REVIEW
Gali Pariente, Tom Leibson, Talya Shulman, Thomasin Adams-Webber, Eran Barzilay, Irena Nulman
INTRODUCTION: Lamotrigine is used in pregnancy to control epilepsy and mood disorders. The reproductive safety of this widely used drug remains undefined and may represent a significant public health concern. OBJECTIVE: We aimed to perform a systematic review and meta-analysis of existing knowledge related to malformation rates and maternal-neonatal outcomes after in utero exposure to monotherapy with lamotrigine. METHODS: Relevant studies were identified through systematic searches conducted in MEDLINE (Ovid), Embase (Ovid), CENTRAL (Ovid), and Web of Science (Thomson Reuters) from database inception to July 2016; no language or date restrictions were applied...
April 22, 2017: CNS Drugs
https://www.readbyqxmd.com/read/28432216/embryonic-cholecystitis-and-defective-gallbladder-contraction-in-the-sox17-haploinsufficient-model-of-biliary-atresia
#17
Hiroki Higashiyama, Aisa Ozawa, Hiroyuki Sumitomo, Mami Uemura, Ko Fujino, Hitomi Igarashi, Kenya Imaimatsu, Naoki Tsunekawa, Yoshikazu Hirate, Masamichi Kurohmaru, Yukio Saijoh, Masami Kanai-Azuma, Yoshiakira Kanai
The gallbladder excretes cytotoxic bile acids to the duodenum through the cystic duct and common bile duct system. Sox17 haploinsufficiency causes the biliary atresia-like phenotypes and hepatitis in late organogenesis mouse embryos. However, the molecular and cellular mechanisms in the Sox17-haploinsufficient gallbladder and liver in the etiology of biliary atresia remain unclear. In this study, transcriptomic analyses revealed the early onset of cholecystitis in the Sox17(+/-) embryos, together with the appearance of ectopic cystic duct-like epithelia in their gallbladders...
April 21, 2017: Development
https://www.readbyqxmd.com/read/28430874/developmental-sall2-transcription-factor-a-new-player-in-cancer
#18
Viviana E Hermosilla, Matias I Hepp, David Escobar, Carlos Farlas, Elizabeth N Riffo, Ariel F Castro, Roxana Pincheira
SALL2, also known as Spalt-like transcription factor 2, is a member of the SALL family of transcription factors involved in development and conserved through evolution. Since its identification in 1996, findings indicate that SALL2 plays a role in neurogenesis, neuronal differentiation and eye development. Consistently, SALL2 deficiency associates with neural tube defects and coloboma, a congenital eye disease. Relevant to cancer, clinical studies indicate that SALL2 is deregulated in various cancers, and is a specific biomarker for Synovial Sarcoma...
April 18, 2017: Carcinogenesis
https://www.readbyqxmd.com/read/28428265/inhibition-of-thyroid-hormone-receptor-locally-in-the-retina-is-a-therapeutic-strategy-for-retinal-degeneration
#19
Hongwei Ma, Fan Yang, Michael R Butler, Joshua Belcher, T Michael Redmond, Andrew T Placzek, Thomas S Scanlan, Xi-Qin Ding
Thyroid hormone (TH) signaling regulates cell proliferation, differentiation, and metabolism. Recent studies have implicated TH signaling in cone photoreceptor viability. Using mouse models of retinal degeneration, we demonstrated that antithyroid drug treatment and targeting iodothyronine deiodinases (DIOs) to suppress cellular tri-iodothyronine (T3) production or increase T3 degradation preserves cones. In this work, we investigated the effectiveness of inhibition of the TH receptor (TR). Two genes, THRA and THRB, encode TRs; THRB2 has been associated with cone viability...
April 20, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28428035/evaluation-of-the-external-fixator-truelok-hexapod-system-for-tibial-deformity-correction-in-children
#20
Sébastien Pesenti, Christopher A Iobst, Franck Launay
BACKGROUND: Tibial deformities are common in paediatric orthopaedic practice. Correcting multiplanar tibial deformities associated with lower limb length discrepancycan be challenging. Hexapod external fixation with gradual correction has been proven effective in this situation. OBJECTIVE: To assess clinical and radiological outcomes of gradual tibial deformity correction using the external fixator TL-HEX(TM)(Orthofix) in children. HYPOTHESIS: TL-HEX™ is effective in correcting tibial deformities in children...
April 17, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
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