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Congenital malformation

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https://www.readbyqxmd.com/read/28732180/the-role-of-noncoding-genetic-variation-in-isolated-orofacial-clefts
#1
F Thieme, K U Ludwig
In the past decade, medical genetic research has generated multiple discoveries, many of which were obtained via genome-wide association studies (GWASs). A major GWAS finding is that the majority of risk variants for complex traits map to noncoding regions. This has resulted in a paradigm shift in terms of the interpretation of human genomic sequence variation, with more attention now being paid to what was previously termed "junk DNA." Translation of genetic findings into biologically meaningful results requires 1) large-scale and cell-specific efforts to annotate non-protein-coding regions and 2) the integration of comprehensive genomic data sets...
July 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28730216/the-importance-of-perinatal-autopsy-review-of-the-literature-and-series-of-cases
#2
Maria Şorop-Florea, Raluca Niculina Ciurea, Mihai Ioana, Alex Emilian Stepan, George Alin Stoica, Florentina Tănase, Maria Cristina Comănescu, Marius Bogdan Novac, Ioana Drăgan, Ciprian LaurenŢiu Pătru, Roxana Cristina Drăguşin, George Lucian Zorilă, Ovidiu Marian Cărbunaru, NuŢi Daniela Oprescu, Iuliana Ceauşu, Simona Vlădăreanu, Ştefania Tudorache, Dominic Gabriel Iliescu
Perinatal autopsy remains the gold-standard procedure used to establish the fetal, neonatal or infant abnormalities. Progressively, perinatal pathology has become a specialized field with important roles of audit for fetal prenatal diagnostic tools, in parents counseling regarding future pregnancies, in scientific research, for epidemiology of congenital abnormalities and teaching. The differences between prenatal ultrasound and autopsy reports represent a strong argument for the autopsy examination following termination of pregnancy...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28729012/evidence-that-children-born-at-early-term-37-38-6-7-weeks-are-at-increased-risk-for-diabetes-and-obesity-related-disorders
#3
Dorit Paz Levy, Eyal Sheiner, Tamar Wainstock, Ruslan Sergienko, Daniella Landau, Asnat Walfisch
BACKGROUND: Prematurity is known to be associated with high rates of endocrine and metabolic complications in the offspring. Early term (37 0/7-38 6/7 weeks' gestation) born offspring were also shown to exhibit long term morbidity resembling that of late preterm, in several health categories. OBJECTIVE: We aimed to determine whether early term delivery impacts on the long-term endocrine and metabolic health of the offspring. STUDY DESIGN: A population-based cohort analysis was performed, including all term singleton deliveries occurring during 1991-2013 at a single regional tertiary medical center...
July 17, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28728240/-the-implantation-of-bonebridge-in-bilateral-congenital-malformation-of-external-and-middle-ear
#4
S Q Zhao, R Ren, D M Han, Y Li, X B Ma, D N Wang, Y L Li
Objective: To evaluate the auditory efficacy of Bonebridge implantation in patients with bilateral congenital malformation of external and middle ear. Methods: Eleven cases (6 males and 5 females) had unilateral Bonebridge implantation. The age ranged from 8 to 26 and the average age was 16.9. Seven to ten days after operation, the first fitting was undergone. In acoustic sound field, the average auditory thresholds were respectively measured for unaided ears and Bonebridge implanted ears by pure tone auditory (PTA, 0...
July 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/28728073/sudden-perinatal-death-due-to-rupture-of-congenital-cardiac-diverticulum-pathological-findings-and-medico-legal-investigations-in-malpractice-charge
#5
Matteo Marchesi, Michele Boracchi, Guendalina Gentile, Francesca Maghin, Riccardo Zoja
Congenital diverticula of the left ventricle, very rare malformations, are determined by an abnormal embryonic development of the ventricular wall and can be isolated or associated to other cardiac anomalies. In most of the cases, these pathologies are not symptomatic and in some patients can be associated to ventricular arrhythmia, cardiac rupture with tamponade and sudden death. Authors are presenting the case of a sudden death in an 8-weeks-old newborn due to rupture of a cardiac congenital diverticulum of the left ventricle, discovered only at the moment of the autopsic examination...
July 12, 2017: Legal Medicine
https://www.readbyqxmd.com/read/28727971/congenital-extrahepatic-portosystemic-shunt-abernethy-malformation-type-ib-with-associated-hepatocellular-carcinoma-case-report-and-literature-review
#6
Mark Benedict, Manuel Rodriguez-Davalos, Sukru Emre, Zenta Walther, Raffaella Morotti
Abernethy malformation, also termed congenital portosystemic shunt and congenital absence of portal vein is the result of malformation of the splanchnic venous system. Congenital portosystemic shunts are divided into extra- and intrahepatic shunts. Two shunts have been defined: Type I is characterized by the complete diversion of portal blood into the vena cava with an associated congenital absence of the portal vein. Type II is defined by an intact but diverted portal vein through a side-to-side, extrahepatic connection to the vena cava...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28726807/when-genotype-is-not-predictive-of-phenotype-implications-for-genetic-counseling-based-on-21-594-chromosomal-microarray-analysis-examinations
#7
Idit Maya, Reuven Sharony, Shiri Yacobson, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Ifaat Agmon-Fishman, Lital Cohen-Vig, Yael Goldberg, Racheli Berger, Lina Basel-Salmon, Mordechai Shohat
PurposeTo compare the frequency of copy-number variants (CNVs) of variable penetrance in low-risk and high-risk prenatal samples and postnatal samples.MethodsTwo cohorts were categorized according to chromosomal microarray analysis (CMA) indication: group I, low-risk prenatal-women with uneventful pregnancy (control group); group II, high-risk prenatal-women whose fetuses had congenital malformations; and group III, postnatal-individuals with unexplained developmental delay/intellectual disability, autism spectrum disorders, or multiple congenital anomalies...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28726247/women-s-attitudes-to-safe-induced-abortion-in-iran-findings-from-a-pilot-survey
#8
Nader Aghakhani, Michelle Cleary, Abbas Zarei, Violeta Lopez
AIM: To explore attitudes to safe-induced abortion among pregnant women in Iran. BACKGROUND: In Islamic teachings abortion is generally forbidden. However in specific circumstances abortion may be permitted and currently, in Iran, the law allows termination of pregnancy only if three specialist physicians confirm that the pregnancy outcome may be harmful for the mother during pregnancy or after birth. DESIGN: Pilot, descriptive survey. METHODS: A 15-item structured questionnaire focusing on attitudes to safe-induced abortion was developed and pilot tested...
July 20, 2017: Journal of Advanced Nursing
https://www.readbyqxmd.com/read/28726062/valproic-acid-in-women-and-girls-of-childbearing-age
#9
REVIEW
Dorothy Gotlib, Rachel Ramaswamy, Jacob E Kurlander, Alana DeRiggi, Michelle Riba
PURPOSE OF REVIEW: The aim of this paper is to evaluate recent literature on valproic acid (VPA) in women and girls of childbearing age and to emphasize new findings. RECENT FINDINGS: Recent research confirms VPAs teratogenicity and risk of hormone disruption. VPA exposure in utero increases the risk for a variety of major congenital malformations (MCMs), reduced IQ and behavioral problems. In girls and women, VPA increases the risk of hormone abnormalities, obesity, and polycystic ovarian syndrome (PCOS)...
September 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28725213/can-brain-natriuretic-peptides-and-osteoprotegerin-serve-as-biochemical-markers-for-the-detection-of-aortic-pathology-in-children-and-adolescents-with-turner-syndrome
#10
REVIEW
Meenal Mavinkurve, Clodagh S O'Gorman
Turner syndrome (TS) is a chromosomal disorder that affects 1:2,000 females. It results from either the complete or partial loss of the X chromosome as well as other aberrations. Clinical features of TS include short stature, delayed puberty, and congenital cardiac malformations. TS children also have an increased prevalence of cardiometabolic risk factors, which predisposes them to complications like coronary artery disease, cerebrovascular-related deaths, and aortic dissection. Early cardiac imaging, such as echocardiography and cardiac magnetic resonance imaging, are recommended to detect underlying aortic pathology...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28722320/congenital-unilateral-renal-agenesis-prevalence-prenatal-diagnosis-associated-anomalies-data-from-two-birth-defect-registries
#11
Hélène Laurichesse Delmas, Monique Kohler, Bérénice Doray, Didier Lémery, Christine Francannet, Jocelyn Quistrebert, Cécile Marie, Isabelle Perthus
BACKGROUND: The different mechanisms leading to a solitary kidney should be differentiated because the long-term outcome might be different. The fetal period is the best moment to make a true diagnosis of congenital unilateral renal agenesis (URA). The objective was to determine the prevalence of URA at birth. The secondary objectives were to describe the evolution of sensitivity of prenatal diagnosis over time and the different forms of URA (isolated and associated with other malformations) detected up to 1 year...
July 19, 2017: Birth defects research
https://www.readbyqxmd.com/read/28722171/use-of-antibiotics-during-pregnancy-and-the-risk-of-major-congenital-malformations-a-population-based-cohort-study
#12
Flory T Muanda, Odile Sheehy, Anick Bérard
INTRODUCTION: Few studies have investigated the link between individual antibiotics and major congenital malformations (MCMs) including specific malformations owing to small sample size. We aimed to quantify the association between exposure to gestational antibiotic and the risk of MCMs. METHODS: Using the Quebec pregnancy cohort (1998 -2008), we included a total of 139,938 liveborn singleton alive whose mothers were covered by the «Régie de l'assurance maladie du Québec" drug plan for at least 12 months before and during pregnancy...
July 19, 2017: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28721819/the-application-of-scaffold-materials-in-cartilage-tissue-engineering
#13
Na Fu, Tengzhe Dong, Ai Meng, Zhaosong Meng, Bofeng Zhu, Yunfeng Lin
The management of chondral defects has been a challenge for a long time because of the poor self-healing capacity of articular cartilage. Many approaches ranging from symptomatic treatment to structural cartilage regeneration are not that successful with very limited satisfactory results. Chondral defects caused by tumor, trauma, infection, congenital malformations are very common in clinical trials. It seriously affects the patient's physical function and quality of life. Cartilage tissue engineering, which involves novel natural scaffolds, has emerged as a promising strategy for cartilage regeneration and repair...
July 18, 2017: Current Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/28719530/images-in-anesthesiology-congenital-pulmonary-airway-malformation
#14
Rajeev Subramanyam, Karyn Ledbetter, Robert Fleck, Mohamed Mahmoud
No abstract text is available yet for this article.
August 2017: Anesthesiology
https://www.readbyqxmd.com/read/28719048/developmental-mechanisms-of-intervertebral-disc-and-vertebral-column-formation
#15
REVIEW
Lisa Y Lawson, Brian D Harfe
The vertebral column consists of repeating units of ossified vertebrae that are adjoined by fibrocartilagenous intervertebral discs. These structures form from the embryonic notochord and somitic mesoderm. In humans, congenital malformations of the vertebral column include scoliosis, kyphosis, spina bifida, and Klippel Feil syndrome. In adulthood, a common malady affecting the vertebral column includes disc degeneration and associated back pain. Indeed, recent reports estimate that low back pain is the number one cause of disability worldwide...
July 18, 2017: Wiley Interdisciplinary Reviews. Developmental Biology
https://www.readbyqxmd.com/read/28718994/hemifacial-microsomia-in-a-cat
#16
R B Song, M Kent, E N Glass, G J Davis, F A Castro, A de Lahunta
A 7-month-old domestic medium hair cat presented with facial asymmetry affecting the bony and soft tissue structures of the right side of the head including the maxilla, nose, eye and pinna of the ear. Additionally, neurological dysfunction of the facial and vestibulocochlear nerves on the affected side was present. A congenital malformation affecting the first and second embryologic pharyngeal arches was suspected. This is the first case of hemifacial microsomia of likely congenital origin reported in a cat...
July 18, 2017: Anatomia, Histologia, Embryologia
https://www.readbyqxmd.com/read/28718898/exposure-to-biologic-therapies-during-conception-and-pregnancy-a-systematic-review
#17
E M Pottinger, R T Woolf, L S Exton, A D Burden, C Nelson-Piercy, C H Smith
Biologic therapies are effective treatments for psoriasis and are often used in women of childbearing age. To evaluate the safety of biologic therapy in conception and/or pregnancy, we have performed a systematic review of Pubmed, MEDLINE, EMBASE and Cochrane databases for multivariable adjusted studies of women exposed to biologic therapy relevant to the treatment of psoriasis during conception and/or pregnancy. We identified four population-based cohort studies involving 1300 women exposed to TNF-α inhibitors (TNFi) 3 months prior to or during the first 3 months of pregnancy...
July 18, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28716735/pupillary-measurements-and-anisocoria-in-chinese-preschoolers-3-4-years-of-age-screened-using-the-plusoptix-a12c
#18
Dan Huang, Xiaohan Zhang, Yue Wang, Hui Zhu, Hui Ding, Jing Bai, Ji Chen, Zhujun Fu, Zijin Wang, Xuejuan Chen, Hu Liu
PURPOSE: To evaluate the distribution of the pupil diameter and distance and the incidence of anisocoria in a screening setting for Chinese preschoolers 3-4 years of age. METHODS: This was a cross-sectional, population-based study conducted in children aged 3-4 years in Nanjing, China. Plusoptix photoscreening was conducted without cycloplegia. Additional assessments were conducted, including light reaction test, reevaluation for anisocoria (in dim and bright light), swinging-flashlight test, and cocaine test, if necessary...
July 14, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28716574/foregut-duplication-cyst-with-pseudostratified-columnar-ciliated-epithelium-a-case-report-and-review-of-the-literature
#19
Joshua T Byers, Dingle Foote, Patrick Choi, Samuel W French
Foregut duplication cysts are extremely rare congenital malformations. Herein we report a case of 73 year old male with a left upper quadrant abdominal lesion identified on CT scan.
July 14, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28714856/use-of-human-aortic-extracellular-matrix-as-a-scaffold-for-construction-of-patient-specific-tissue-engineered-vascular-patch
#20
Liping Gao, Mingjun Du, Jingjing Lv, Sebastian Schmull, Ritai Huang, Jun Li
Abstract Synthetic or biologic materials are usually used to repair vascular malformation in congenital heart defects; however, non-autologous materials show both mismatch compliance and antigenicity, as well as a lack of recellularization on its surface. Here, we constructed a tissue-engineered vascular patch (TEVP) using decellularized extracellular matrix (ECM) scaffold obtained from excised human aorta during surgery, which was seeded with patient-derived bone marrow CD34-positive (CD34+) progenitor cells...
July 17, 2017: Biomedical Materials
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