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Congenital malformation

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https://www.readbyqxmd.com/read/28938747/prevalence-of-endocrine-and-genetic-abnormalities-in-boys-evaluated-systematically-for-a-disorder-of-sex-development
#1
R Nixon, V Cerqueira, A Kyriakou, A Lucas-Herald, J McNeilly, M McMillan, A I Purvis, E S Tobias, R McGowan, S F Ahmed
STUDY QUESTION: What is the likelihood of identifying genetic or endocrine abnormalities in a group of boys with 46, XY who present to a specialist clinic with a suspected disorder of sex development (DSD)? SUMMARY ANSWER: An endocrine abnormality of the gonadal axis may be present in a quarter of cases and copy number variants (CNVs) or single gene variants may be present in about half of the cases. WHAT IS KNOWN ALREADY: Evaluation of 46, XY DSD requires a combination of endocrine and genetic tests but the prevalence of these abnormalities in a sufficiently large group of boys presenting to one specialist multidisciplinary service is unclear...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28934336/the-oldest-record-of-aquatic-amniote-congenital-scoliosis
#2
Tomasz Szczygielski, Dawid Surmik, Agnieszka Kapuścińska, Bruce M Rothschild
We report the first occurrence of congenital scoliosis in an early Permian aquatic parareptile, Stereosternum tumidum from Paraná state, Brazil. The spine malformation is caused by a congenital hemivertebra. These observations give insight into the biomechanical aspects of underwater locomotion in an axial skeleton-compromised aquatic amniote. This is the oldest record of a hemivertebra in an aquatic animal.
2017: PloS One
https://www.readbyqxmd.com/read/28932688/alg9-cdg-new-clinical-case-and-review-of-the-literature
#3
Kellie Davis, Duncan Webster, Chris Smith, Sheryl Jackson, David Sinasac, Lorne Seargeant, Xing-Chang Wei, Patrick Ferreira, Julian Midgley, Yolanda Foster, Xueli Li, Miao He, Walla Al-Hertani
Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with most related to deficiencies of N-glycosylation. ALG9-CDG (previously CDG-IL) is the result of a mutation in ALG9. This gene encodes the enzyme alpha-1,2-mannosyltransferase. To date, a total of 10 patients from 6 different families have been reported with one of four ALG9 mutations. Seven of these patients had a similar phenotype with failure to thrive, dysmorphic features, seizures, hepatic and/or renal cysts; the other three patients died in utero from a lethal skeletal dysplasia...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28931684/zika-virus-encoding-non-glycosylated-envelope-protein-is-attenuated-and-defective-in-neuroinvasion
#4
Arun S Annamalai, Aryamav Pattnaik, Bikash R Sahoo, Ezhumalai Muthukrishnan, Sathish Kumar Natarajan, David Steffen, Hiep L X Vu, Gustavo Delhon, Fernando A Osorio, Thomas M Petro, Shi-Hua Xiang, Asit K Pattnaik
Zika virus (ZIKV), a mosquito-transmitted flavivirus, responsible for sporadic outbreaks of mild and febrile illness in Africa and Asia, re-emerged in the last decade causing serious human diseases including microcephaly, congenital malformations, and Guillain-Barré syndrome. Although genomic and phylogenetic analyses suggest that genetic evolution may have led to enhanced virulence of ZIKV, experimental evidence supporting the role of specific genetic changes in virulence is currently outstanding. One sequence motif, VNDT, containing an N-linked glycosylation site in the envelope (E) protein, is polymorphic, being absent in many of the African isolates while present in all isolates from the recent outbreaks...
September 20, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28931341/the-neurotoxic-effects-of-prenatal-gabapentin-and-oxcarbazepine-exposure-on-newborn-rats
#5
Zuleyha Erisgin, Bulent Ayas, Jens R Nyengaard, N Ercument Beyhun, Yuksel Terzi
Teratogenicity is a problematic issue for pregnant women because of x-ray radiation, drugs, genetic and unknown variables. First generation antiepileptic drugs (AED) like valproic acid are well-known teratogens for developing foetuses. However, their usage is necessary in order to prevent maternal seizures. The underlying mechanism of birth defects associated with AED exposure remains unclear and information about the neurotoxic effects of prenatal exposure to AED is still limited. Oxcarbazepine (OXC) and gabapentin (GBP) are second generation antiepileptic drugs...
September 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28931188/congenital-ear-malformations-effectively-correcting-cryptotia-with-neonatal-ear-molding
#6
Collin Rozanski, Joseph J Rousso
No abstract text is available yet for this article.
September 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28930371/polyhydramnios-frequency-of-congenital-anomalies-in-relation-to-the-value-of-the-amniotic-fluid-index
#7
Jakub Kornacki, Magdalena Adamczyk, Przemysław Wirstlein, Maciej Osiński, Ewa Wender-Ożegowska
OBJECTIVES: The aims of our study were to assess the correlation between the amniotic fluid index (AFI) value and the frequency and type of fetal anomalies. MATERIAL AND METHODS: The material included 94 patients at the third trimester of pregnancy, 60 with mild polyhydramnios, 19 with moderate one, and 15 with severe one. Polyhydramnios was diagnosed if AFI was > 24 cm. All patients were divided into three groups based on the value of AFI: 1) mild polyhydramnios with AFI between 24...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28929715/-evaluation-of-the-use-of-the-socioeconomic-deprivation-index-at-area-level-in-ecological-studies-on-environment-and-health
#8
Fabrizio Minichilli, Michele Santoro, Fabrizio Bianchi, Nicola Caranci, Marco De Santis, Roberto Pasetto
BACKGROUND: in SENTIERI surveillance system, the health risk assessment in the contaminated sites (CSs) was carried out considering the socioeconomic deprivation index (ID-SENTIERI) at the municipal level as a confounder. Pasetto et al. discussed the use of IDs in ecological studies and proposed to examine the role of ID-SENTIERI as a confounder. OBJECTIVES: to evaluate the initial conditions necessary for the role of confounding, i.e., the verification of an association of the ID-SENTIERI with the risk of some of the diseases for which evidence of a relationship with the socioeconomic state (SES) is documented in the literature...
May 2017: Epidemiologia e Prevenzione
https://www.readbyqxmd.com/read/28929065/the-use-of-lexical-neighborhood-test-lnt-in-the-assessment-of-speech-recognition-performance-of-cochlear-implantees-with-normal-and-malformed-cochlea
#9
Anjali R Kant, Arun A Banik
The present study aims to use the model-based test Lexical Neighborhood Test (LNT), to assess speech recognition performance in early and late implanted hearing impaired children with normal and malformed cochlea. The LNT was administered to 46 children with congenital (prelingual) bilateral severe-profound sensorineural hearing loss, using Nucleus 24 cochlear implant. The children were grouped into Group 1-(early implantees with normal cochlea-EI); n = 15, 31/2-61/2 years of age; mean age at implantation-3½ years...
September 2017: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/28929060/laser-assisted-double-layer-endoscopic-repair-of-laryngeal-clefts-our-experience-in-11-cases
#10
Danah Aljomah, Jaber Alshammari
Laryngeal cleft is a rare congenital malformation of the respiratory tract leading to a high level of morbidity and mortality, recently being diagnosed with increased frequency. Management throughout the years included medical and surgical. The open surgical technique is more commonly used although it has higher risk and need longer post-operative care. Recently surgical endoscopic repair was introduced using different techniques. To evaluate the clinical features of infants and children presenting with laryngeal clefts, and review endoscopic management modality especially the technique and results of repair using double-layer (2 layers) technique...
September 2017: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/28928990/detection-of-a-left-superior-vena-cava-during-a-pacemaker-implantation-in-cotonou
#11
A Sonou, M Hounkponou, L Codjo, P M Adjagba, C Houehanou, H Dohou, S Assani, Y Tchabi, M Houenassi
Persistent left superior vena cava (LSVC) is a rare congenital anomaly. Its prevalence in the general population is 0.1 to 0.5%. LSVC is 5 times rarer when accompanied by an absence of the right superior vena cava (RSVC). We present the case of a 54-year-old man who carries a persistent LSVC without RSVC. Clinically, this patient presented a regular bradycardia at 40 per minute associated with a heart failure syndrome. The electrocardiogram diagnosed a complete atrioventricular block and transthoracic echocardiography showed dilated left heart cavities and a left ventricular ejection fraction of 50%...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28926478/characterization-of-spontaneous-hydrocephalus-development-in-the-young-atherosclerosis-prone-mice
#12
Chuanguo Liu, Guorong Li, Pingping Wang, Yan Wang, Jie Pan
Little has been reported on whether abnormal lipid metabolism affects hydrocephalus, although congenital malformations and infectious diseases are major causal factors for hydrocephalus development. In a study on the pathogenesis of atherogenesis in mice, we unexpectedly discovered that hydrocephalus occurred in partial apolipoptotein E (apoE) and low-density lipoprotein receptor (LDLR) double-knockout (apoE/LDLR) mice fed either chow or a high-fat and high-cholesterol diet between the ages of 4 and 12 weeks...
September 18, 2017: Neuroreport
https://www.readbyqxmd.com/read/28925604/epidemiology-and-prognosis-of-congenital-diaphragmatic-hernia-a-population-based-cohort-study-in-utah
#13
Hari Shanmugam, Luca Brunelli, Lorenzo D Botto, Sergey Krikov, Marcia L Feldkamp
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a relatively frequent and severe malformation. Population-based data on clinical presentation and associated mortality are scarce. We examined a state-wide cohort of infants with a clinically validated diagnosis of CDH to assess their clinical profile, sociodemographic patterns, and infant mortality. METHODS: We identified CDH cases from Utah's statewide population-based surveillance program among the cohort of all pregnancy outcomes (live births, stillbirths, and pregnancy terminations) delivered from 1999 to 2011...
September 19, 2017: Birth defects research
https://www.readbyqxmd.com/read/28924546/sirenomelia-associated-with-hypoplastic-left-heart-in-a-newborn
#14
H Turgut, R Ozdemir, I K Gokce, C Karakurt, A Karadag
Sirenomelia, also known as "mermaid malformation/syndrome," is a rare, serious congenital anomaly characterized by variable degrees of fusion of the lower limbs and associated with severe malformations of vertebral, genitourinary, cardiovascular system and single umbilical artery. The first pregnancy of a 25-year-old woman resulted in one twin born by Cesarian section at 32 weeks' gestation, who was referred to our hospital with cyanosis, a congenital anomaly and respiratory distress. On physical examination, there was no urogenital region and anal fissure and gender was indeterminate...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28924535/benign-pathogenic-and-copy-number-variations-of-unknown-clinical-significance-in-patients-with-congenital-malformations-and-developmental-delay
#15
M Mihaylova, R Staneva, D Toncheva, M Pancheva, S Hadjidekova
The high frequency (3.0-5.0%) of congenital anomalies (CA) and intellectual disabilities (IDs), make them a serious problem, responsible for a high percentage (33.0%) of neonatal mortality. The genetic cause remains unclear in 40.0% of cases. Recently, molecular karyotyping has become the most powerful method for detection of pathogenic imbalances in patients with multiple CAs and IDs. This method is with high resolution and gives us the opportunity to investigate and identify candidate genes that could explain the genotype-phenotype correlations...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28924292/hemimegalencephaly-with-intractable-epilepsy-a-case-report
#16
Prem Chand, Muhammad Faraz Raghib, Muhammad Sohail Salat, Fazal Manzoor Arain
Isolated Hemimegalencephaly (iHME) is a rare form of congenital malformation of cortical development.It is characterized by enlargement of all or part of one cerebral hemisphere. It typically presents with intractable seizures, mental retardation, developmental delay, contralateral hemiparesis and hemianopia. The patient was a five and half month's old baby girl who presented first with focal seizures at 10th day of life. No other physical or behavioral abnormality was noted. However, Initial EEG showed excessive sharp EEG transients more over the right hemisphere, repeated EEG showed spikes, polyspikes, sharps and slow wave discharges predominately over right hemisphere...
September 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28921932/fetal-mri-compared-to-ultrasound-for-the-diagnosis-of-obstructive-genital-malformations
#17
Anne Elodie Millischer, David Grevent, Véronique Rousseau, Neil O'Gorman, Pascale Sonigo, Bettina Bessieres, Yves Ville, Nathalie Boddaert, Laurent J Salomon
OBJECTIVE: To compare the accuracy of Magnetic Resonance Imaging (MRI) and ultrasound (US) to diagnose and characterize congenital obstructive genital abnormalities. METHOD: Retrospective cohort of 20 fetuses who underwent a fetal MRI following an ultrasound diagnosis of obstructive urogenital malformation. We compared MRI and US findings and their correlation with the definitive diagnosis. RESULT: The correct diagnosis was obtained in 6/20 (30%) cases and 19/20 cases (95%) with US and MRI respectively...
September 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28919627/ebstein-s-anomaly-associated-with-atrial-septal-defect-and-wolff-parkinson-white-wpw-syndrome
#18
M N Hasan, K Ahmed, S M Ahmed, M M Rahman
Ebstein's anomaly is a rare congenital heart disorder, accounting for <1% of all cases of congenital heart disease. It is a congenital malformation of the heart that is characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet. We report the case of a 25 years old female with Ebstein's anomaly which was associated with Ostium Secundum type of atrial septal defect and WPW syndrome, who presented with dyspnea, palpitations, cyanosis, clubbing and cardiomegaly...
July 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28919619/comparison-of-serum-bilirubin-with-transcutaneous-bilirubinometry-in-late-preterm-and-term-newborn
#19
N Nahar, M A Mannan, A C Dey, F Ahmed, K A Khan, I Jahan, S K Dey, M Shahidullah
Neonatal jaundice or hyperbilirubinemia is a common occurrence in newborns. It can progress to develop kernicterus unless intervention is initiated. Severity and decision for management are usually based on serum bilirubin which needs blood sampling. Transcutaneous bilirubin measurement is a noninvasive technique and correlates closely with serum bilirubin. This Cross sectional study was done in the Department of Neonatology, Bangabandhu Sheikh Mujib Medical University from March 2013 to August 2014 to evaluate the transcutaneous bilirubin in comparison to serum bilirubin...
July 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28917584/pneumatoceles-in-pediatric-blunt-trauma-common-and-benign
#20
Lindsey B Armstrong, David P Mooney
INTRODUCTION: Traumatic pneumatoceles are reported to be rare in children and to have an uncertain clinical significance. We report a single institution series of traumatic pneumatoceles to better define their frequency and clinical significance. METHODS: After obtaining approval from the IRB, data were extracted from the trauma registry of a level 1 pediatric trauma center on children diagnosed with a pulmonary contusion (International Classification of Diseases-9th edition diagnosis codes: 861...
August 7, 2017: Journal of Pediatric Surgery
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