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https://www.readbyqxmd.com/read/28737875/-intestinal-cystic-duplication-case-report
#1
Ana Herranz Barbero, Jordi Prat Ortells, M Elena Muñoz Fernández, Montserrat Castañón García-Alix, Josep Figueras Aloy
Intestinal cystic duplications are rare congenital anomalies, with an estimated incidence of approximately 1:4500 autopsies. The etiopathogenesis is uncertain. These duplications are cystic, tubular or diverticular structures lined with gastrointestinal mucosa. They share a common smooth muscle wall with the gastrointestinal tract but usually their lumens do not communicate with each other. Gastric duplication cysts represent 7-9% of the gastrointestinal tract duplication. They can be diagnosed prenatally by fetal ultrasound; magnetic resonance imaging characterizes the cyst and excludes other malformations...
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28737203/pain-insensitivity-in-a-child-with-a-de-novo-interstitial-deletion-of-the-long-arm-of-the-chromosome-4-case-report
#2
Marco Cascella, María Rosaria Muzio
Terminal and interstitial deletions of the distal segment of the long arm of chromosome 4 (Cr4q del) are not common genetic disorders. The severity of the phenotype is correlated with the size of the deletion because small deletions have little clinical impact, whereas large deletions are usually associated with multiple congenital anomalies, postnatal growth failure, and moderate to severe intellectual disability. Alteration in pain tolerance has not been included among these features, also in case of large deletions...
June 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28736088/fetopathological-examination-for-the-fetuses-with-down-syndrome-in-tunisia-epidemiological-study-and-associated-malformations
#3
Meriem Aloui, Kaouther Nasri, Nadia Ben Jemaa, Meriem Sahraoui, Aida Masmoudi, Dorra Zghal, Dalenda Chelli, Habiba Chaâbouni, Abdel Majid Ben Hamida, Soumeya Siala Gaigi, Raja Marrakchi
BACKGROUND: For Down syndrome (DS), traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. In Tunisia, the current work is the first in-depth study in epidemiology of DS from fetopathological data. AIM OF THE STUDY: The aim of this epidemiological study was to determine the impact of some feto-maternal characteristics in occurrence of DS and to search the frequency of associated congenital malformations with this syndrome...
May 8, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28735429/history-of-club-foot-treatment-part-ii-tenotomy-in-the-nineteenth-century
#4
REVIEW
Philippe Hernigou, Nicolas Gravina, Damien Potage, Arnaud Dubory
Clubfoot is one of the most common congenital orthopaedic anomalies and was described by Hippocrates in the year 400 BC. From manipulation in antiquity to splint and plaster in the Renaissance the treatment had improved before tenotomy. Tenotomy was tested during the 19th century and will be explained in this manuscript; the introduction of subcutaneous tenotomy of the Achilles tendon had focused the attention of surgeons on the surgical treatment of clubfeet. While this operation was very successful in the correction of equinus deformities due to poliomyelitis, cerebral palsy, and old injuries, it was not a panacea for the patient with the congenital clubfoot...
July 22, 2017: International Orthopaedics
https://www.readbyqxmd.com/read/28734636/-clinical-and-genetic-aspects-of-albinism
#5
Benoit Arveiler, Eulalie Lasseaux, Fanny Morice-Picard
Albinism is a genetic disease affecting 1/17,000 person worldwide. It constitutes the second cause of congenital loss of visual acuity after optic atrophy. Albinism is heterogeneous both at the clinical and genetic levels. It is characterized by ocular development anomalies and by a variable degree of hypopigmentation. Clinically, three forms of the disease are described: oculocutaneous, ocular and syndromic (Hermansky-Pudlak syndrome, Chediak-Higashi syndrome). Nineteen genes involved in the different types of albinism have been described so far...
July 19, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28734519/zika-virus-infection
#6
REVIEW
Debbie-Ann T Shirley, James P Nataro
In less than 2 years since entry into the Americas, we have witnessed the emergent spread of Zika virus into large subsets of immunologically naïve human populations and then encountered the devastating effects of microcephaly and brain anomalies that can arise from in utero infection with the virus. Diagnostic evaluation and management of affected infants continues to evolve as our understanding of Zika virus rapidly advances. The development of a safe and effective vaccine holds the potential to attenuate the spread of infection and limit the impact of congenital infection...
August 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/28733436/survival-by-birth-weight-and-gestational-age-in-individuals-with-congenital-heart-disease-a-population-based-study
#7
Kate E Best, Peter W G Tennant, Judith Rankin
BACKGROUND: Congenital heart disease (CHD) survival estimates are important to understand prognosis and evaluate health and social care needs. Few studies have reported CHD survival estimates according to maternal and fetal characteristics. This study aimed to identify predictors of CHD survival and report conditional survival estimates. METHODS AND RESULTS: Cases of CHD (n=5070) born during 1985-2003 and notified to the Northern Congenital Abnormality Survey (NorCAS) were matched to national mortality information in 2008...
July 21, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28731648/the-national-network-of-congenital-anomalies-extended-goals-for-surveillance
#8
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/28731028/corrigendum-a-uk-wide-cohort-study-describing-management-and-outcomes-for-infants-with-surgical-necrotising-enterocolitis
#9
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/28730216/the-importance-of-perinatal-autopsy-review-of-the-literature-and-series-of-cases
#10
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/28730131/clinical-study-of-congenital-esophageal-stenosis-comparison-according-to-association-of-esophageal-atresia-and-tracheoesophageal-fistula
#11
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/28728923/ruptured-sinus-of-valsalva-aneurysm-causing-acute-right-heart-and-hepatorenal-failure-requiring-urgent-surgery
#12
Benjamin Swinson, Robert Grant, Ekta Paw, Raibhan Yadav, Anand Iyer
A sinus of Valsalva aneurysm is a rare cardiac anomaly that may be congenital or acquired. Very rarely, they present with acute symptoms as a result of rupture into the cardiac chamber. If left untreated, they almost always result in deteriorating cardiac function. We report a patient presenting with acute right heart failure and hepatorenal syndrome requiring urgent surgery and double patch repair.
May 29, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28728837/epileptic-apnea-in-a-patient-with-inherited-glycosylphosphatidylinositol-anchor-deficiency-and-pigt-mutations
#13
Kosuke Kohashi, Akihiko Ishiyama, Shota Yuasa, Tomomi Tanaka, Kazushi Miya, Yuichi Adachi, Noriko Sato, Hirotomo Saitsu, Chihiro Ohba, Naomichi Matsumoto, Yoshiko Murakami, Taroh Kinoshita, Kenji Sugai, Masayuki Sasaki
We report an 11-month-old boy with acetazolamide-responsive epileptic apnea and inherited glycosylphosphatidylinositol (GPI)-anchor deficiency who presented with decreased serum alkaline phosphatase associated with compound PIGT mutations. The patient exhibited congenital anomalies, severe intellectual disability, and seizures, including epileptic apnea with epileptiform discharges from bilateral temporal areas. Brain magnetic resonance imaging revealed delayed myelination and progressive atrophy of the brainstem, cerebellum, and cerebrum...
July 17, 2017: Brain & Development
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
#14
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/28727893/outcome-after-prenatal-and-postnatal-diagnosis-of-complex-congenital-heart-defects-and-the-influence-of-genetic-anomalies
#15
Katya De Groote, Ellen Vanhie, Ellen Roets, Paul Ramaekers, Hans De Wilde, Joseph Panzer, Kristof Vandekerckhove, Thierry Bove, Katrien François, Koen Van Herck, Daniël De Wolf
OBJECTIVE: Determine prenatal detection rate, mortality and association with genetic abnormalities in patients with severe CHD. METHOD: Single center retrospective study in patients with severe CHD diagnosed pre or postnatally (2006 to 2014). RESULTS: 567 patients were included, 176 (31%) after prenatal diagnosis, with large differences in prenatal detection rate among CHD types. Coarctation (24%), tetralogy of Fallot (21%) and univentricular heart (19%) were the most prevalent CHD...
July 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28727655/preterm-infants-with-biliary-atresia-a-nationwide-cohort-analysis-from-the-netherlands
#16
Daan B E van Wessel, Thomas Boere, Christian V Hulzebos, Ruben H J de Kleine, Henkjan J Verkade, Jan B F Hulscher
OBJECTIVES: atresia (BA) occurs in 0.54/10.000 of overall live births in The Netherlands. BA has an unfavorable prognosis: less than 40% of patients are cleared of jaundice after Kasai portoenterostomy (KPE), 4-year transplant-free survival rate is 46% and the 4-year survival rate is ∼75%. Little is known on difficulties in diagnosis and the outcome of BA in preterm infants. We aimed to analyze the incidence and outcome of BA in preterm infants in The Netherlands. METHODS: Retrospective study including Dutch preterm infants treated for BA...
July 19, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28727375/an-unanswered-question-in-pediatric-urology-the-post-pubertal-persistence-of-prepubertal-congenital-penile-curvature-correction-by-tunical-plication
#17
Ünsal Ozkuvanci, Orhan Ziylan, M Irfan Dönmez, Omer Baris Yucel, Tayfun Oktar, Haluk Ander, Ismet Nane
OBJECTIVE: The aim of this study is to analyze post pubertal results of pre pubertal tunica albuginea plication with non-absorbable sutures in the correction of CPC. MATERIALS AND METHODS: The files of patients who underwent tunica albuginea plication without incision (dorsal/lateral) were retrospectively reviewed. Patients younger than 13 years of age at the time of operation and older than 14 years of age in November 2015 were included. Patients with a penile curvature of less than 30 degrees & more than 45 degrees and penile/urethral anomalies were excluded...
June 14, 2017: International Braz J Urol: Official Journal of the Brazilian Society of Urology
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
#18
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/28726262/double-aortic-arch-anomalies-in-children-a-systematic-20-year-single-center-study
#19
M Kaldararova, I Simkova, I Varga, P Tittel, M Kardos, M Ondriska, V Vrsanska, J Masura
INTRODUCTION: Aortic arch anomalies underlie numerous congenital disorders. Effectively diagnosing and treating them requires close understanding of cardiovascular embryology. As our Center serves the entire pediatric population of our country, we performed a comprehensive retrospective analysis of all aortic arch anomalies diagnosed at our Center over the past 20 years. MATERIALS AND METHODS: We analyzed 40 children with aortic arch anomalies, distinguishing two defect types: Group 1 displayed ring-forming anomalies, and Group 2 other types of aortic arch anomalies that did not form a vascular ring...
July 20, 2017: Clinical Anatomy
https://www.readbyqxmd.com/read/28724436/expanding-the-phenotype-of-reciprocal-1q21-1-deletions-and-duplications-a-case-series
#20
Martina Busè, Helenia C Cuttaia, Daniela Palazzo, Marcella V Mazara, Salvatrice A Lauricella, Michela Malacarne, Mauro Pierluigi, Simona Cavani, Maria Piccione
BACKGROUND: Recurrent reciprocal 1q21.1 deletions and duplications have been associated with variable phenotypes. Phenotypic features described in association with 1q21.1 microdeletions include developmental delay, craniofacial dysmorphism and congenital anomalies. The 1q21.1 reciprocal duplication has been associated with macrocephaly or relative macrocephaly, frontal bossing, hypertelorism, developmental delay, intellectual disability and autism spectrum disorder. METHODS: Our study describes seven patients, who were referred to us for developmental delay/intellectual disability, dysmorphic features and, in some cases, congenital anomalies, in whom we identified 1q21...
July 19, 2017: Italian Journal of Pediatrics
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