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https://www.readbyqxmd.com/read/28645799/genotype-phenotype-evaluation-of-med13l-defects-in-the-light-of-a-novel-truncating-and-a-recurrent-missense-mutation
#1
Reza Asadollahi, Markus Zweier, Laura Gogoll, Raphael Schiffmann, Heinrich Sticht, Katharina Steindl, Anita Rauch
A decade after the designation of MED13L as a gene and its link to intellectual disability (ID) and dextro-looped transposition of great arteries in 2003, we previously described a recognizable syndrome due to MED13L haploinsufficiency. Subsequent reports of 22 further patients diagnosed by genome-wide testing further delineated the syndrome with expansion of the phenotypic spectrum and showed reduced penetrance for congenital heart defects. We now report two novel patients identified by whole exome sequencing, one with a de novo MED13L truncating mutation and the other with a de novo missense mutation...
June 20, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28643663/delivery-outcomes-of-term-pregnancy-complicated-by-idiopathic-polyhydramnios
#2
S Zeino, L Carbillon, I Pharisien, A Tigaizin, M Benchimol, R Murtada, J Boujenah
OBJECTIVE: Polyhydramnios is associated with an increased risk of cesarean section. The aetiology of polyhydramnios and the characteristics of the labour may be confounding factors. The objective was to study the characteristics and mode of delivery in case of pregnancy complicated with idiopathic polyhydramnios. METHODS: This retrospective matched and controlled study included all pregnant women with idiopathic polyhydramnios (amniotic index>25cm or single deepest pocket>8cm) diagnosed at the 2nd or 3rd trimester and persistent at term delivery (>37weeks of pregnancy) in our institution...
April 2017: Journal of gynecology obstetrics and human reproduction
https://www.readbyqxmd.com/read/28642639/foregut-duplication-cysts-in-children
#3
Keshawadhana Balakrishnan, Frances Fonacier, Shilpa Sood, Natasha Bamji, Howard Bostwick, Gustavo Stringel
BACKGROUND AND OBJECTIVES: Duplications of the alimentary tract are rare anomalies. We report our experience with foregut duplication cysts including their clinical presentation, diagnostic modalities, and surgical management. METHODS: We report a 20-year retrospective review of all foregut duplication cysts managed at our institution. RESULTS: Twelve patients with 13 foregut duplication cysts were identified. The ages of the children at the time of surgery ranged from infancy to adolescence, with a mean age of 7...
April 2017: JSLS: Journal of the Society of Laparoendoscopic Surgeons
https://www.readbyqxmd.com/read/28641750/predicting-outcomes-in-congenital-diaphragmatic-hernia
#4
Oluwatomilayo Daodu, Mary E Brindle
Identification of CDH infant populations at high risk for mortality postnatally may help to develop targeted care strategies, guide discussions surrounding palliation and contribute to standardizing reporting and benchmarking, so that care strategies at different centers can be compared. Clinical prediction rules are evidence-based tools that combine multiple predictors to estimate the probability that a particular outcome in an individual patient will occur. In CDH, a suitable clinical prediction rule can stratify high- and low-risk populations and provide the ability to tailor management strategies based on severity...
June 2017: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/28639488/prenatal-exposure-to-serotonin-reuptake-inhibitors-and-congenital-heart-anomalies-an-exploratory-pharmacogenetics-study
#5
Aizati N A Daud, Jorieke E H Bergman, Wilhelmina S Kerstjens-Frederikse, Pieter van der Vlies, Eelko Hak, Rolf M F Berger, Henk Groen, Bob Wilffert
AIM: To explore the role of pharmacogenetics in determining the risk of congenital heart anomalies (CHA) with prenatal use of serotonin reuptake inhibitors. METHODS: We included 33 case-mother dyads and 2 mother-only (child deceased) cases of CHA in a case-only study. Ten genes important in determining fetal exposure to serotonin reuptake inhibitors were examined: CYP1A2, CYP2C9, CYP2C19, CYP2D6, ABCB1, SLC6A4, HTR1A, HTR1B, HTR2A and HTR3B. RESULTS: Among the exposed cases, polymorphisms that tended to be associated with an increased risk of CHA were SLC6A4 5-HTTLPR and 5-HTTVNTR, HTR1A rs1364043, HTR1B rs6296 and rs6298 and HTR3B rs1176744, but none reached statistical significance due to our limited sample sizes...
June 22, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28639359/interobserver-variability-in-the-classification-of-congenital-coronary-abnormalities-a-substudy-of-the-anomalous-connections-of-the-coronary-arteries-registry
#6
Athanasios Koutsoukis, Xavier Halna du Fretay, Patrick Dupouy, Phalla Ou, Jean-Pierre Laissy, Jean-Michel Juliard, Fabien Hyafil, Pierre Aubry
OBJECTIVE: The diagnosis of anomalous connections of the coronary arteries (ANOCOR) requires an appropriate identification for the management of the patients involved. We studied the observer variability in the description and classification of ANOCOR between a nonexpert group of physicians and a group of expert physicians, using the ANOCOR cohort. PATIENTS AND DESIGN: Consecutive patients identified by 71 referring cardiologists were included in the ANOCOR cohort...
June 21, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28638814/congenital-urogenital-abnormalities-in-children-with-congenital-hypothyroidism
#7
Parsa Yousefi Chaijan, Fatemeh Dorreh, Mojtaba Sharafkhah, Mohammad Amiri, Mohsen Ebrahimimonfared, Mohammad Rafeie, Fatemeh Safi
Background: Congenital hypothyroidism (CH), as one of the most common congenital endocrine disorders, may be significantly associated with congenital malformations. This study investigates urogenital abnormalities in children with primary CH (PCH). Methods: This case-control study was conducted on 200 children aged three months to 1 year, referred to Amir-Kabir Hospital, Arak, Iran. One hundred children with PCH, as the case group, and 100 healthy children, as the control group, were selected using convenient sampling...
2017: Medical Journal of the Islamic Republic of Iran
https://www.readbyqxmd.com/read/28638688/spontaneous-regression-of-epstein-barr-virus-associated-lymphoproliferative-disorder-in-a-juvenile-idiopathic-arthritis-patient-after-the-discontinuation-of-methotrexate-and-etanercept
#8
Ariane Klein, Harald Reinhard, Annette M Mueller, Gerd Horneff
A case of a 16-year-old female with polyarticular juvenile idiopathic arthritis (JIA) since the age of 4 years is reported here. This patient also suffered from multiple congenital anomalies. On long-term treatment with oral methotrexate (MTX) and etanercept, multiple subcutaneous nodules were detected, which were accompanied by increased lactate dehydrogenase and uric acid levels. A biopsy of the largest nodule revealed Epstein-Barr (EB) virus-positive diffuse large B-cell lymphoma (DLBCL). The patient was classified as clinical stage IIIA due to a mediastinal lesion...
June 2017: European Journal of Rheumatology
https://www.readbyqxmd.com/read/28638495/an-atypical-presentation-of-congenital-pulmonary-airway-malformation-cpam-a-rare-case-with-antenatal-ultrasound-findings-and-review-of-literature
#9
Munnangi Satya Gautam, Srinivas M Naren Satya, Ivvala Sai Prathyusha, K Hema Chandra Reddy, Kamala Retnam Mayilvaganan, Deepthi Raidu
BACKGROUND: Congenital pulmonary airway malformation (CPAM) is a relatively rare congenital anomaly with a wide spectrum of ultrasound features depending on the specific variety of CPAM. Antenatal ultrasound is a valuable, safe, nonionizing, cost-effective, widely available and easily reproducible imaging tool and is indispensable in the diagnosis of CPAM. In this paper, we aimed to report an atypical imaging presentation of CPAM type II in the second trimester, extensively involving all lobes of the left lung...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28638294/persistent-sciatic-artery-a-favorable-anatomic-variant-in-a-setting-of-trauma
#10
William Shaffer, Mary Maher, Michael Maristany, Bahri Ustunsoz, Bradley Spieler
BACKGROUND: Persistent sciatic artery (PSA) is a rare congenital anomaly of the circulation of the lower limb that results from the persistence of an artery that normally regresses early in embryonic development. PSA is usually an incidental finding and is exceedingly rare to find bilaterally. CASE REPORT: We present the case of a rare presentation of PSA that resulted in a favorable outcome for a patient who sustained a gunshot wound to his midthigh and discuss the history, embryology, anatomy, classification schema, imaging evaluation, complications, diagnosis, and management of PSA...
2017: Ochsner Journal
https://www.readbyqxmd.com/read/28638259/global-alert-zika-virus-an-emerging-arbovirus
#11
REVIEW
Zulal Ozkurt, Esra Cinar Tanriverdi
Zika virus (ZIKV) is an arbovirus of the Flavivirus genus, and it has an envelope and a single RNA molecule. In early 2016, the World Health Organization declared ZIKV infection to be an emerging global health threat. The major transmission route of the virus to humans is Aedes mosquitoes. ZIKV can be transmitted between humans by transplacental, perinatal, and sexual routes and via blood and body fluids. ZIKV infection usually results in a mild and self-limiting disease with low-grade fever, conjunctivitis, and periorbital edema...
June 2017: Eurasian Journal of Medicine
https://www.readbyqxmd.com/read/28637614/classical-inherited-bone-marrow-failure-syndromes-with-high-risk-for-myelodysplastic-syndrome-and-acute-myelogenous-leukemia
#12
REVIEW
Sharon A Savage, Carlo Dufour
The inherited marrow failure syndromes (IBMFS) are a heterogeneous group of diseases characterized by failure in the production of one or more blood lineage. The clinical manifestations of the IBMFS vary according to the type and number of blood cell lines involved, including different combinations of anemia, leukopenia, and thrombocytopenia. In some IBMFS, systemic non-hematologic manifestations, including congenital malformations, mucocutaneous abnormalities, developmental delay, and other medical complications, may be present...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28636476/an-intradural-subpial-lipoma
#13
Anouschka Cogen, Jozef Michielsen, Paul Van Schil, Johan Somville
Introduction - patients: Intradural lipomas are rare congenital tumors. A case of intradural lipoma in the absence of any congenital spinal anomalies is reported. Patient presented with spinal cord compression syndrome. Methods - results - conclusions: Treatment of this disorder is still controversial.
March 1, 2017: Acta Chirurgica Belgica
https://www.readbyqxmd.com/read/28635575/-high-risk-obstetrics-in-tertiary-centres-anaesthetist-hybrid-operating-suite-and-obstetric-critical-care-unit
#14
C D van der Marel, A J Eggink, R J Stolker
The frequency of pregnancy-related morbidity has increased over recent decades, as has the number of patients with complex congenital cardiac anomalies reaching fertile age, resulting in an increasing number of high-risk pregnancies. In order to optimalise maternal and foetal outcome in these patients, not only is the availability of optimal in-hospital facilities (e.g. obstetric critical care unit, hybrid operating suite) important, but also a multidisciplinary approach which is mandatory for successful maternal and foetal outcome...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28635200/unusual-symptomatic-late-onset-presentation-of-aberrant-right-subclavian-artery-report-of-two-cases-and-short-literature-review
#15
Yannis Dimitroglou, Ioannis Loulakas, Maria Chounti, Michail Megalakakis, Eleni Karavana, Panagiotis Hountis
Aberrant subclavian arteries are congenital vascular anomalies that usually do not cause any symptoms. When symptomatic they are considered as a rare cause of dysphagia. This presentation is known as dysphagia lusoria. They are diagnosed by barium swallow or contrast-enhanced computed tomography, although it may be an incidental finding. Management varies from life modifications and drug therapy to surgical intervention. We report two cases of the unusual form of late onset symptomatic presentation because of the presence of aberrant right subclavian artery...
May 18, 2017: Monaldi Archives for Chest Disease, Archivio Monaldi Per le Malattie del Torace
https://www.readbyqxmd.com/read/28633269/stenting-and-reimplanting-disconnected-pulmonary-artery-in-tetralogy-of-fallot
#16
Harikrishnan K N Kurup, Giedrius Baliulis, Marcus P Haw, Joseph J Vettukattil
Tetralogy of Fallot with absent pulmonary valve syndrome (TOF/APV) is a rare congenital malformation. Although pulmonary artery (PA) anomalies have been observed in TOF, its association with disconnected PA is extremely rare. We report successful stenting of the disconnected left PA in a 3-year-old boy with TOF/APV followed by surgical reimplantation. The significance of this transcatheter intervention for guidance during surgery and the importance of visualizing a ductal stump on angiography as an indicator of disconnected PA are discussed...
July 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28632892/maternal-overweight-and-obesity-and-genital-anomalies-in-male-offspring-a-population-based-swedish-cohort-study
#17
Linn Håkonsen Arendt, Cecilia Høst Ramlau-Hansen, Morten Søndergaard Lindhard, Tine Brink Henriksen, Jørn Olsen, Yongfu Yu, Sven Cnattingius
BACKGROUND: Overweight and obese pregnant women face higher risk of several critical birth outcomes, including an overall increased risk of congenital abnormalities. Only few studies have focused on associations between maternal overweight and the genital anomalies in boys, cryptorchidism and hypospadias, and results are inconclusive. METHODS: We performed a population-based cohort study and assessed the associations between maternal body mass index (BMI) in early pregnancy and occurrence of cryptorchidism and hypospadias...
June 20, 2017: Paediatric and Perinatal Epidemiology
https://www.readbyqxmd.com/read/28632651/imaging-in-adult-congenital-heart-disease
#18
Stephanie S Gaydos, Akos Varga-Szemes, Rochelle N Judd, Pal Suranyi, David Gregg
There has been tremendous growth in the population of adults with congenital heart disease (CHD) over the last few decades because of advances in medical care. Whereas some cases are cured during childhood, most patients instead undergo palliation, which leaves them at risk for late complications. Lifelong clinical follow-up involving serial multimodality imaging is helpful to monitor and guide the treatment of late complications. Imaging of these individuals is challenging because of their unique anatomy and therefore requires careful consideration on a case-by-case basis...
July 2017: Journal of Thoracic Imaging
https://www.readbyqxmd.com/read/28630847/hyperplasia-of-lamina-and-spinous-process-of-c5-vertebrae-and-associated-hemivertebra-at-c4-level
#19
Raja Rameez Farooqi, Mufti Mehmood, Hilal A Kotwal
INTRODUCTION: Congenital variants of the cervical spine may mimic traumatic lesions and may cause recurrent episodes of pain. The spectrum of cervical variants includes persistent apophyses of the transverse processes, persistent epiphyses, vertebral platyspondylia, vertebral hypoplasia, and dysplasia of the vertebral arch. Furthermore, abnormalities of the spinous process have been described including doubled spinous processes and hypertrophies. Unilateral hyperplasia of a spinous process is a rare finding that has only been described rarely as case reports...
January 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28630544/pregnancies-and-fetal-anomalies-incompatible-with-life-in-chile-arguments-and-experiences-in-advocating-for-legal-reform
#20
Lidia Casas, Lieta Vivaldi
Chile allows abortion under no circumstances. Whether it's fetal anomaly incompatible with life or congenital malformation resulting in little or no life expectancy, all Chilean women are expected to carry their pregnancies to term. In this context, in January 2015 the Chilean Congress began debating a bill to legalize abortion on three grounds, including fatal congenital malformation. The medical community, including midwives, has presented its views for and against, especially on how the law may affect clinical practices; in addition, women, many of whom have experienced a fatal congenital malformation diagnosis, have weighed in...
June 2017: Health and Human Rights
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