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congenital anomaly

Narayanam Anantha Sai Kiran, Veldurti Ananta Kiran Kumar, Laxminadh Sivaraju, Valluri Anil Kumar, Chintakunta Rajesh Reddy, Amit Agrawal
BACKGROUND: Aberrant medial retropharyngeal prevertebral course of internal carotid arteries (ICAs) is extremely uncommon. In oropharyngeal surgeries like trans oral odontoidectomy (TOO) this unrecognized aberrant retropharyngeal course of ICAs can result in devastating complications secondary to inadvertent injury of ICAs. Authors describe this aberrant course of ICAs in a patient with craniovertebral junction (CVJ) anomaly with dysmorphic C1 lateral mass on one side and discuss in detail various management issues in this complex case...
March 12, 2018: World Neurosurgery
John S Wiener, Dominic C Frimberger, Hadley Wood
Until recently, spina bifida has been regarded a pediatric health issue, and adult consequences of the disorder have not been explored. The congenital neurologic and urologic anomalies, as well as sequelae of bladder management, can have a profound impact on adult male sexual function. Abnormalities in testicular descent, testicular development and function, fertility, penile sensation, erectile function, ejaculatory function, and orgasmic function are common in this population. These adults have substantial gaps in knowledge in normal sexual function and potential dysfunction as it relates to them specifically...
March 12, 2018: Urology
Rosa Roemers, Jolanda Kluin, Frederiek de Heer, Sara Arrigoni, Regina Bökenkamp, Joost van Melle, Tjark Ebels, Mark Hazekamp
OBJECTIVES: Supravalvar aortic stenosis (SVAS) is a rare congenital anomaly. The "single-patch technique," "'two sinus augmentation with an inverted Y-patch" (both nonsymmetrical corrections), "three-patch technique," and the "slide aortoplasty" (both symmetrical corrections) are the techniques implemented by the majority of surgeons for the correction of SVAS. In the few studies that compared these techniques, no technique was shown to be superior over another...
March 2018: World Journal for Pediatric & Congenital Heart Surgery
Rachel C Lombardo, Aleksey Porollo, James F Cnota, Robert J Hopkin
PurposeCongenital central hypoventilation syndrome (CCHS, OMIM 209880) is a rare autosomal dominant disorder caused by mutation in PHOX2B that manifests as a consequence of abnormal neural crest cell migration during embryogenesis. Unlike other neurocristopathies, however, its impact on the cardiovascular system has not been previously assessed. This study was an effort to characterize the association between congenital heart disease (CHD) and mutations in PHOX2B in patients with CCHS.MethodsA retrospective review of patients with CCHS in conjunction with functional analysis of PHOX2B mutations associated with CHD was performed...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Ibtessam R Hussein, Rima S Bader, Adeel G Chaudhary, Randa Bassiouni, Maha Alquaiti, Fai Ashgan, Hans-Juergen Schulten, Mohammad H Al Qahtani
Congenital heart defects (CHDs) are the most common birth defects in neonatal life. CHDs could be presented as isolated defects or associated with developmental delay (DD) and/or other congenital malformations. A small proportion of cardiac defects are caused by chromosomal abnormalities or single gene defects; however, in a large proportion of cases no genetic diagnosis could be achieved by clinical examination and conventional genetic analysis. The development of genome wide array-Comparative Genomic Hybridization technique (array-CGH) allowed for the detection of cryptic chromosomal imbalances and pathogenic copy number variants (CNVs) not detected by conventional techniques...
March 14, 2018: Pediatric Cardiology
F Popescu, C R Jaslow, W H Kutteh
STUDY QUESTION: Will the addition of 24-chromosome microarray analysis on miscarriage tissue combined with the standard American Society for Reproductive Medicine (ASRM) evaluation for recurrent miscarriage explain most losses? SUMMARY ANSWER: Over 90% of patients with recurrent pregnancy loss (RPL) will have a probable or definitive cause identified when combining genetic testing on miscarriage tissue with the standard ASRM evaluation for recurrent miscarriage...
March 12, 2018: Human Reproduction
Cristina Caciolo, Paolo Alfieri, Giorgia Piccini, Maria Cristina Digilio, Francesca Romana Lepri, Marco Tartaglia, Deny Menghini, Stefano Vicari
BACKGROUND: Kabuki syndrome (KS) is a disorder characterized by multiple congenital anomalies affecting development and function of multiple systems. Over the years, researchers have attempted to characterize the neurobehavioral phenotype of KS in cohorts of patients enrolled on the basis of clinical assessment. The availability of molecular testing now allows for recruitment of patients with confirmed KS due to KMT2D and KDM6A. METHODS: The aims of the present study were to investigate the neuropsychological and behavioral profiles of individuals with molecularly confirmed diagnosis of KS, and determine the extent of heterogeneity occurring in these profiles between individuals with clinical diagnosis of KS with and without mutations in KMT2D...
March 13, 2018: Molecular Genetics & Genomic Medicine
Joseph B Cantey, Kelsey R Anderson, Ram R Kalagiri, Lea H Mallett
BACKGROUND: Coagulase-negative staphylococci (CoNS) are the most common cause of late-onset sepsis in the neonatal intensive care unit (NICU) and usually require vancomycin treatment. Our objective was to determine whether CoNS are associated with neonatal morbidity and mortality. METHODS: This was a retrospective cohort study of very-low-birth-weight (VLBW, ≤ 1500 g) infants from 1989 to 2015. Exclusion criteria were major congenital anomaly or death within 72 h...
March 13, 2018: World Journal of Pediatrics: WJP
Mehdi Zarrei, Geoffrey G Hicks, James N Reynolds, Bhooma Thiruvahindrapuram, Worrawat Engchuan, Molly Pind, Sylvia Lamoureux, John Wei, Zhouzhi Wang, Christian R Marshall, Richard F Wintle, Albert E Chudley, Stephen W Scherer
Fetal alcohol spectrum disorder (FASD) is characterized by a combination of neurological, developmental, and congenital defects that may occur as a consequence of prenatal alcohol exposure. Earlier reports showed that large chromosomal anomalies may link to FASD. Here, we examined the prevalence and types of copy number variations (CNVs) in FASD cases previously diagnosed by a multidisciplinary FASD team in sites across Canada. We genotyped 95 children with FASD and 87 age-matched, typically developing controls on the Illumina Human Omni2...
March 13, 2018: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
Esra Ozkavukcu, Andelib Babaturk, Nuray Haliloglu, Tuncay Yuce, Tayfun Ucar
Congenital aneurysms and diverticula of the heart are rare anomalies and their prenatal diagnosis is challenging. Fetuses with suspected cardiac aneurysms on ultrasound (US) screening should undergo targeted fetal echocardiography, postnatal imaging, and follow-ups. Herein, we describe the second trimester US scan and postnatal cardiac magnetic resonance imaging (MRI) findings of a baby girl with concurrent septal and right ventricular cardiac aneurysms. Other cardiac and extra-cardiac structures were normal...
February 2018: Eurasian Journal of Medicine
Paloma Del C Monroig-Bosque, Ekene I Okoye
Mullerian duct anomalies (MDAs) are congenital defects of the female genital system that arise from abnormal embryological development of the Mullerian ducts. Septate uterus is the most common, resulting from incomplete resorption of the medial septum after fusion of the Mullerian ducts. Two main types of septate uterus exist, including septa that extend completely or partially from the uterine fundus to the cervical os. The combination of a uterine septum with a double cervix has been previously described; however, in most cases the septum was complete...
January 2018: Annals of Clinical and Laboratory Science
Jonathan Frigault, Valérie Lafrenière-Bessi, Jean Perron, Élisabeth Bédard, François Philippon, Paul Poirier, Éric Larose, Frédéric Jacques
Diagnosed with peripartum cardiomyopathy 8 years earlier, a 45-year-old female suffered sudden cardiac death. Following resuscitation, the patient was diagnosed with an anomalous origin of the left coronary artery from the pulmonary artery and underwent a successful coronary repair. The management of a patient with clinical features of cardiomyopathy is reviewed. Anomalous left coronary artery originating from the pulmonary artery (ALCAPA) is a rare but potentially lethal congenital anomaly affecting 1 in 300,000 live births1 ...
March 9, 2018: Annals of Thoracic Surgery
Ran Nagar, Sharon Perlman, Or Yariv, Zvi Kivilevich, Benjamin Dekel, Reuven Achiron, Yinon Gilboa
BACKGROUND: Sonographic assessment of the fetal kidneys is an integral part of the prenatal anatomical survey. OBJECTIVES: To evaluate the fetal renal to abdominal (RTA) ratio throughout pregnancy and to investigate whether this ratio can be a potential diagnostic landmark for congenital anomalies of the kidney and urinary tract (CAKUT). METHODS: Measurements of the anterior-posterior diameters of the fetal kidney and fetal abdomen (APAD) were obtained prospectively...
March 2018: Israel Medical Association Journal: IMAJ
Richa Sharma, Gita Radhakrishnan, M S Bhatia, Rashmi Gupta, Anita Mehdiratta
Psychological assessment using the Beck Depression Inventory II (BDI) on 196 eligible Medical Termination of Pregnancy (MTP) seekers showed that the depression rate prior to MTP was 12 (6.1%) and had increased to 21 (10.7%) 1 month after MTP. Risk factors included primipara, second-trimester abortion, MTP on humanitarian grounds (rape), foetal congenital anomalies and maternal illness. Psychological morbidity due to abortion greatly interferes with the interpersonal, spousal and mother-child relationships. This demands the need of counselling centres so that each MTP seeker could be counselled prior to and after MTP...
March 12, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Chrissy Frances Bishop, Neil Small, Roger Parslow, Brian Kelly
OBJECTIVES: Congenital anomaly (CA) are a leading cause of disease, death and disability for children throughout the world. Many have complex and varying healthcare needs which are not well understood. Our aim was to analyse the healthcare needs of children with CA and examine how that healthcare is delivered. DESIGN: Secondary analysis of observational data from the Born in Bradford study, a large prospective birth cohort, linked to primary care data and hospital episode statistics...
March 9, 2018: BMJ Open
Jaana Seikkula, Sanna Oksjoki, Saija Hurme, Harri Mankonen, Päivi Polo-Kantola, Varpu Jokimaa
Blastomere multinucleation in human embryos is a common phenomenon, but data on its effect on pregnancy outcome and the health of newborns are scarce. In this case-control study, we assessed pregnancy and perinatal outcomes from 136 binucleated and multinucleated frozen-thawed embryo transfer cycles against a control group of 136 non-binucleated and multinucleated frozen embryo transfer cycles. Clinical pregnancy and live birth rates were lower among the case group (29.4% versus 44.1%, P = 0.012; 22.1% versus 36...
February 26, 2018: Reproductive Biomedicine Online
Ahmed Mohey, Mohamed Alhefnawy, Mostafa Mahmoud, Rabea Gomaa, Tarek Soliman, Shabieb Ahmed, Yasser A Noureldin
INTRODUCTION: To assess the conversion rate during fluoroless-ureteroscopy (URS) and evaluate the feasibility, safety, and efficacy of fluoroless-URS as a definitive management of distal ureteral calculi. MATERIAL AND METHODS: Between May 2013 and August 2015, patients with radio-opaque distal ureteral calculi of ≤ 1 cm in size were randomized to undergo fluoroless-URS or standard URS. Patients with previous ureteral surgery, ureteral kinking, ureteral stricture, single kidney, additional proximal ureteral or renal calculi, uncontrolled coagulopathy, and/or congenital anomalies of the urinary tract were excluded...
February 2018: Canadian Journal of Urology
Omar N Atta, Hussein H Alhawari, Muayyad M Murshidi, Emad Tarawneh, Mujalli M Murshidi
INTRODUCTION: Ureterocele is a cystic dilatation of the lower part of the ureter. It is a congenital anomaly that is associated with other anomalies such as a duplicated system, and other diseases. It poses a great challenge owing to its numerous types and clinical presentations. Its incidence is 1 in every 4000 individuals. One of its presentations in the adult population is the presence of a stone, usually a solitary stone, inside the ureterocele. CASE PRESENTATION: We are reporting a case of an adult ureterocele complicated by a large calculus; managed endoscopically with transurethral deroofing of the ureterocele followed by cystolitholapaxy...
February 28, 2018: International Journal of Surgery Case Reports
Alexander N Yatsenko, Paul J Turek
PURPOSE: To examine current evidence of the known effects of advanced paternal age on sperm genetic and epigenetic changes and associated birth defects and diseases in offspring. METHODS: Review of published PubMed literature. RESULTS: Advanced paternal age (> 40 years) is associated with accumulated damage to sperm DNA and mitotic and meiotic quality control mechanisms (mismatch repair) during spermatogenesis. This in turn causes well-delineated abnormalities in sperm chromosomes, both numerical and structural, and increased sperm DNA fragmentation (3%/year of age) and single gene mutations (relative risk, RR 10)...
March 9, 2018: Journal of Assisted Reproduction and Genetics
Gabriel Altit, Shazia Bhombal, Krisa Van Meurs, Theresa A Tacy
INTRODUCTION: Newborns with congenital diaphragmatic hernia (CDH) have varying degrees of pulmonary hypoplasia and pulmonary hypertension (PH), and there is limited evidence that cardiac dysfunction is present. We sought to study early neonatal biventricular function and performance in these patients by reviewing early post-natal echocardiography (ECHO) measurements and comparing them to normal term newborns. METHODS: Retrospective case-control study reviewing clinical and ECHO data on term newborns with CDH and normal controls born between 2009 and 2016...
March 9, 2018: Pediatric Cardiology
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