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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/28731912/assessing-infant-and-maternal-readiness-for-newborn-discharge
#2
Ling Jing, Casidhe-Nicole Bethancourt, Thomas McDonagh
PURPOSE OF REVIEW: The review highlights the shift from prescribed length of stay (LOS) to mother-infant dyad readiness as the basis for making discharge decisions for healthy term newborns. We describe the components of readiness that should be considered in making the decision, focusing on infant clinical readiness, and maternal and familial readiness. RECENT FINDINGS: Although the Newborns' and Mothers' Health Protection Act of 1996 aimed to protect infants and mothers by establishing a minimum LOS, the American Academy of Pediatrics 2015 policy on newborn discharge acknowledges the shift from LOS-based to readiness-based discharge decision-making...
July 20, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28731695/how-rhodopsin-tunes-the-equilibrium-between-protonated-and-deprotonated-forms-of-the-retinal-chromophore
#3
Siri Camee van Keulen, Alicia Solano, Ursula Rothlisberger
Rhodopsin is a photoactive G-protein-coupled receptor (GPCR) that converts dim light into a signal for the brain, leading to eyesight. Full activation of this GPCR is achieved after passing through several steps of the protein's photoactivation pathway. Key events of rhodopsin activation are the initial cis-trans photoisomerisation of the covalently bound retinal moiety followed by conformational rearrangements and deprotonation of the chromophore's protonated Schiff base (PSB), which ultimately lead to full activation in the meta II state...
July 21, 2017: Journal of Chemical Theory and Computation
https://www.readbyqxmd.com/read/28731648/the-national-network-of-congenital-anomalies-extended-goals-for-surveillance
#4
Boris Groisman, María P Bidondo, Pablo Barbero, Rosa Liascovich
No abstract text is available yet for this article.
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28731586/pregnancy-in-women-with-non-classic-congenital-adrenal-hyperplasia-time-to-conceive-and-outcome
#5
Ori Eyal, Irit Ayalon-Dangur, Anat Segev-Becker, Anita Schachter-Davidov, Shoshana Israel, Naomi Weintrob
OBJECTIVE: Non-classic congenital adrenal hyperplasia (NCAH) is common among Ashkenazi Jews (1:400). It is associated with various degrees of postnatal virilization, irregular menses and infertility. Therapy of symptomatic subjects consists of physiologic doses of glucocorticoids. The objective of this study was to evaluate the effect of glucocorticoid treatment on fertility and on pregnancy outcome in women with NCAH. DESIGN, SETTING AND PATIENTS: This retrospective study included 75 women diagnosed with NCAH who were followed in our clinic and sought fertility between 2008 and 2015...
July 21, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28731028/corrigendum-a-uk-wide-cohort-study-describing-management-and-outcomes-for-infants-with-surgical-necrotising-enterocolitis
#6
Benjamin Allin, Anna-May Long, Amit Gupta, Marian Knight, Kokila Lakhoo
This corrects the article DOI: 10.1038/srep41149.
July 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28731005/preparing-medical-students-with-congenital-colour-vision-deficiency-for-safe-practice
#7
Rajat Dhingra, Jolly Rohatgi, Upreet Dhaliwal
BACKGROUND: Colour vision of candidates is tested in many medical colleges in India at the time of admission to undergraduate courses; however, there are no guidelines, and therefore no counselling, on how students with congenital colour vision deficiency (CCVD) should negotiate the medical course, and how best they can practise safely after graduation. Problems in interpreting coloured signs may lead to misdiagnosis. This study aimed to explore difficulties during clinical work that requires colour discrimination, and to offer suggestions on safe practice based on the findings and a review of the literature...
January 2017: National Medical Journal of India
https://www.readbyqxmd.com/read/28730329/an-evaluation-of-the-addition-of-critical-congenital-heart-defect-screening-in-georgia-newborn-screening-procedures
#8
Shelby T Rentmeester, Johanna Pringle, Carol R Hogue
Objectives Each year in the U.S., approximately 7200 infants are born with a critical congenital heart defect (CCHD). The Georgia Department of Public Health (DPH) mandated routine screening for CCHD starting January 2015. The current study evaluated hospital performance of the mandated CCHD screenings in Georgia. Methods Utilizing the DPH newborn screening surveillance system, data from 6 months before and after the mandate were analyzed for reports submitted and positive CCHD screening results. Chi square tests of independence were performed to examine the association between reporting of results for CCHD screening after the mandate and hospital nursery level [level I (well-baby/newborn); level II (special care); level III (neonatal intensive care unit-NICU)] and NICU submissions...
July 20, 2017: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/28730319/management-of-postoperative-junctional-ectopic-tachycardia-in-pediatric-patients-a-survey-of-30-centers-in-germany-austria-and-switzerland
#9
Andreas Entenmann, Miriam Michel, Ulrike Herberg, Nikolaus Haas, Matthias Kumpf, Matthias Gass, Friedemann Egender, Roman Gebauer
Postoperative junctional ectopic tachycardia (JET) is a frequent complication after pediatric cardiac surgery. Current recommendations on how and when to treat JET are inconsistent. We evaluated the management strategies of postoperative JET in German-speaking countries. We sent an online survey to 30 centers of pediatric cardiology that perform surgery for congenital heart defects in Germany (24), Austria (4), and Switzerland (2). The survey asked 18 questions about how and in what treatment sequence postoperative JET was managed...
July 21, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28730300/health-related-quality-of-life-in-paediatric-patients-with-congenital-heart-defects-association-with-the-type-of-heart-defect-and-the-surgical-technique
#10
A Heusch, H J Kahl, K O Hensel, G Calaminus
The aim of the study was to investigate the impact of a number of surgical interventions for a various congenital cardiac defects (CHDs) on self-reported HRQoL. METHODS: Patients who had received corrective surgery of several congenital heart defects (surgical VSD closure, Fallot, TGA after atrial or arterial switch or Fontan-type circulation for univentricular AV-connection) were interviewed in the office of their home peadiatric cardiologist. HRQoL in children along 7 dimensions was assessed using a standardised questionnaire (PEDQoL); information on the medical case history of each respondent was also collected...
July 20, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/28730252/morphological-imaging-and-surgical-aspects-in-a-complex-case-of-uterine-leiomyosarcoma-case-report-and-review-of-the-literature
#11
Aida TincuŢa Petca, Simona Vlădăreanu, Dan Cristian Radu, Mihaela BoŢ, Costin Berceanu, Bogdan Stelian Mastalier Manolescu, Cosmin Medar, Răzvan Cosmin Petca
Leiomyosarcoma is a rare condition so there are relatively few and small case series and no prospective studies to provide clear guidelines regarding management. We report on a case that presents some particularities that further underline diagnostic and treatment difficulties posed by the affliction of such a rare tumor. This is the case of a 43-year-old woman who had a large tumor arising from the uterus, with a spectacular growth rate over a short period. The patient, with congenital spastic tetraparesis and hydrocephalus, came for belly enlargement with rapid increase in size over the previous two months...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28730218/the-morphogen-behind-primary-congenital-glaucoma-and-the-dream-of-targeting
#12
Kyrillus Samaan Shohdy, Wegdan Aly Rashad, Mohamed Khalid Fargoun, Phillippe Urban
Glaucoma is a clinical entity with multifactorial etiology, a severe subtype occurs in infancy called primary congenital glaucoma (PCG). Three distinct levels interact sequentially to produce PCG: (i) genetic mutations mainly affecting the CYP1B1 gene, (ii) absence or dysregulation of a morphogen, and (iii) trabecular meshwork pathological changes either in patterning or remodeling. We will discuss these three levels in detail towards further understanding of the morphological basis of the disease, focusing on the missing points, for instance the exact nature and function of the morphogen along with the putative role of CYP1B1 gene...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28730216/the-importance-of-perinatal-autopsy-review-of-the-literature-and-series-of-cases
#13
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/28730136/early-diagnosis-of-abcb11-spectrum-liver-disorders-by-next-generation-sequencing
#14
Su Jeong Lee, Jung Eun Kim, Byung-Ho Choe, An Na Seo, Han-Ik Bae, Su-Kyeong Hwang
PURPOSE: The goal of this study was the early diagnosis of ABCB11 spectrum liver disorders, especially those focused on benign recurrent intrahepatic cholestasis and progressive familial intrahepatic cholestasis. METHODS: Fifty patients presenting neonatal cholestasis were evaluated to identify underlying etiologies. Genetic analysis was performed on patients suspected to have syndromic diseases or ABCB11 spectrum liver disorders. Two families with proven ABCB11 spectrum liver disorders were subjected to genetic analyses to confirm the diagnosis and were provided genetic counseling...
June 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/28730131/clinical-study-of-congenital-esophageal-stenosis-comparison-according-to-association-of-esophageal-atresia-and-tracheoesophageal-fistula
#15
Soo-Hong Kim, Hyun-Young Kim, Sung-Eun Jung, Seong-Cheol Lee, Kwi-Won Park
PURPOSE: Congenital esophageal atresia (CES) is a rare congenital disease. The severity of symptoms is variable; thus, diagnosis is difficult and tends to be delayed. CES is frequently accompanied by esophageal atresia (EA) with/without tracheoesophageal fistula (TEF). We investigated the characteristics of CES by reviewing our experience with CES patients and researched the differences between CES with EA-TEF and isolated CES. METHODS: A total of 31 patients underwent operations for CES were reviewed retrospectively...
June 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/28730083/viscocanalostomy-combined-with-trabeculotomy-and-mitomycin-c-in-the-treatment-of-primary-congenital-glaucoma
#16
Chao-Xu Qian, Yuan Zong, Qin Chen, Zhi-Lan Yuan
AIM: To evaluate the long-term outcome of viscocanalostomy combined with trabeculotomy and mitomycin C in the treatment of primary congenital glaucoma. METHODS: This is a retrospective study. Forty-two eyes of 26 patients with primary congenital glaucoma were enrolled. Intraocular pressure (IOP), corneal diameter (mm) and cup/disc (C/D) were measured before and after the surgery respectively. Follow-up period was 30mo. RESULTS: The mean preoperative IOP was 30...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28729908/aki-after-pediatric-cardiac-surgery-for-congenital-heart-diseases-recent-developments-in-diagnostic-criteria-and-early-diagnosis-by-biomarkers
#17
REVIEW
Yuichiro Toda, Kentaro Sugimoto
BACKGROUND: Acute kidney injury (AKI) after cardiac surgery in children with congenital heart disease is a common complication. AKI is also associated with high morbidity and mortality. The Kidney Diseases Improving Global Outcomes (KDIGO) criteria for AKI classification are now widely used for the definition of AKI. It is noteworthy that a statement about children was added to the criteria. Many studies aimed at finding useful biomarkers are now being performed by using these criteria...
2017: Journal of Intensive Care
https://www.readbyqxmd.com/read/28729805/dental-treatment-considerations-for-a-pediatric-patient-with-incontinentia-pigmenti-bloch-sulzberger-syndrome
#18
Amy Yi-Ling Chen, Kevin Chen
Incontinentia pigmenti (IP) is a uncommon gene disorder, heritage with X-linked dominant mode. IP patients have a characteristic dentition varying from marked hypodontia to delayed eruption and conical crowns on both dentitions. A 5½-year-old girl, whose mother and younger sister were also diagnosed with IP, has the whirling-like pigmented skin lesion over her trunk and four extremities. Four primary teeth and multiple permanent tooth germs were found to be congenital missing. Dental considerations of further treatment were discussed with her parents including the preservation of primary molars, possible interim prosthesis in mixed or permanent dentition, full mouth rehabilitation with orthodontic and prosthodontic combined treatment, and implant therapy in adulthood...
April 2017: European Journal of Dentistry
https://www.readbyqxmd.com/read/28729571/a-review-of-implant-provision-for-hypodontia-patients-within-a-scottish-referral-centre
#19
B Burns, V Grieg, V Bissell, L Savarrio
Background Implant treatment to replace congenitally missing teeth often involves multidisciplinary input in a secondary care environment. High quality patient care requires an in-depth knowledge of treatment requirements.Aim This service review aimed to determine treatment needs, efficiency of service and outcomes achieved in hypodontia patients. It also aimed to determine any specific difficulties encountered in service provision, and suggest methods to overcome these.Methods Hypodontia patients in the Unit of Periodontics of the Scottish referral centre under consideration, who had implant placement and fixed restoration, or review completed over a 31 month period, were included...
July 21, 2017: British Dental Journal
https://www.readbyqxmd.com/read/28729373/the-importance-of-managing-the-patient-and-not-the-gene-expanded-phenotype-of-gle1-associated-arthrogryposis
#20
Queenie K-G Tan, Allyn McConkie-Rosell, Jane Juusola, Kathryn E Gustafson, Carolyn E Pizoli, Anne F Buckley, Yong-Hui Jiang
GLE1 encodes a protein important for mRNA export and appears to play roles in translation initiation and termination as well. Pathogenic variants in GLE1 mutations have been associated with lethal contracture syndrome (LCCS1) and Lethal Arthrogryposis with Anterior Horn Cell Disease (LAAHD); phenotypes reported in individuals include fetal akinesia and a severe form of motor neuron disease, typically presenting with prenatal symptoms and perinatal lethality. In this paper, we identified bi-allelic missense mutations in GLE1 by trio whole exome sequencing (WES) in an individual affected with congenital motor weakness and contractures as well as feeding and respiratory difficulties...
July 20, 2017: Cold Spring Harbor Molecular Case Studies
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