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https://www.readbyqxmd.com/read/28749297/ebstein-anomaly-in-the-tsushima-leopard-cat-prionailurus-bengalensis-euptilurus
#1
Shunsuke Shimamura, Yukihiro Shiota, Naoko Takagi, Tatsuya Habara, Shougo Hirata, Hitoshi Komai, Satoko Nishimura, Hiroyuki Tani, Terumasa Shimada
Ebstein anomaly is a rare congenital heart disease that has been described in domestic dogs, a meerkat, a pygmy goat, and a lion. An 11-mo-old Tsushima leopard cat presented to Osaka Prefecture University Veterinary Hospital for diagnosis and treatment of right-sided congestive heart failure. Echocardiography showed a dilated right atrium and ventricle with an enlarged tricuspid valve annulus and apical displacement of the tricuspid valve leaflets. The cat was diagnosed with Ebstein anomaly. To the best of our knowledge, this is the first report of this type of congenital heart disease in a Tsushima leopard cat...
June 2017: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://www.readbyqxmd.com/read/28748011/-intraoperative-management-of-esophageal-atresia-small-steps-that-cannot-be-ignored-in-madagascar
#2
Harifetra Mamy Richard Randriamizao, Aurélia Rakotondrainibe, Nadia Marie Philibertine Rahanitriniaina, Andriambelo Tovohery Rajaonera, Mamy Lalatiana Andriamanarivo
The management of esophageal atresia is still limited due to the precariousness of technical equipments in Madagascar. Our case study aims to highlight possible therapeutic options and to describe the progresses to be made so as to optimize treatment of this congenital pathology. We collected the medical records of all patients hospitalized for esophageal atresia in the Department of Surgical Reanimation at the University Hospital-JRA Antananarivo. The first patients admitted who survived for a period of 42 months (between January 2011 and June 2014) were included in the study...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28747363/changes-in-cardiac-output-and-cerebral-oxygenation-during-prone-and-supine-sleep-positioning-in-healthy-term-infants
#3
Tai-Wei Wu, Rey-In Lien, Istvan Seri, Shahab Noori
OBJECTIVE: To investigate the changes in systemic and cerebral haemodynamics between supine and prone sleep in healthy term infants during the early postnatal period. DESIGN/METHODS: Healthy term infants without congenital anomalies, patent ductus arteriosus and/or small for gestational age status were enrolled. Infants were placed in supine (SP1), prone (PP) and back in supine (SP2) position for 15 min each while asleep. Cardiac output (CO) and stroke volume (SV) were assessed by electrical velocimetry (EV) and echocardiography (echo), and cerebral regional oxygen saturation (CrSO2) in the frontal lobes was monitored by near-infrared spectroscopy...
July 26, 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/28747161/factors-associated-with-perinatal-mortality-among-public-health-deliveries-in-addis-ababa-ethiopia-an-unmatched-case-control-study
#4
Yemisrach Getiye, Mesganaw Fantahun
BACKGROUND: perinatal mortality is the sum of still birth (fetal death) and early neonatal death (ENND) i.e. death of live newborn before the age of 7 completed days. Perinatal mortality accounts three fourth of the deaths of the neonatal period and is one of the major challenges for under-five mortality. Therefore this study was conducted to better understand the common and avoidable factors that affect perinatal mortality in Addis Ababa, Ethiopia. METHODS: An unmatched case control study design using secondary data as a source of information was conducted...
July 26, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28745134/giant-left-circumflex-coronary-artery-aneurysm-with-fistula-to-the-right-atrium
#5
Jerrold Spapen, Katrien Van Kolen, Arno Gigase, Paul Vermeersch
Coronary artery fistulae are rare cardiac anomalies with a prevalence of 0.2% of all the patients undergoing coronary angiography. The majority of them are congenital and generally origin from the right coronary artery. Occasionally acquired (mostly iatrogenic) fistulae can develop. Although frequently subclinical, symptoms of angina and congestive heart failure may occur. We present an unusual well-illustrated case of a strongly dilated circumflex coronary artery with formation of two giant aneurysms and fistulous communication towards the right atrium...
July 26, 2017: Acta Cardiologica
https://www.readbyqxmd.com/read/28744072/multimodality-imaging-spectrum-of-complications-of-horseshoe-kidney
#6
Hardik U Shah, Vijayanadh Ojili
Horseshoe kidney is the most common congenital renal fusion anomaly with an incidence of 1 in 400-600 individuals. The most common type is fusion at the lower poles seen in greater than 90% of the cases, with the rest depicting fusion at the upper poles, resulting in an inverted horseshoe kidney. Embryologically, there are two theories hypothesizing the genesis of horseshoe kidney - mechanical fusion theory and teratogenic event theory. As an entity, horseshoe kidney is an association of two anatomic anomalies, namely, ectopia and malrotation...
April 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/28743714/incidental-finding-of-a-double-orifice-mitral-valve-in-an-elderly-patient-the-value-of-3d-imaging
#7
Nuno Pires, Wei Li, Roxy Senior, Rajdeep S Khattar
A rare isolated double orifice mitral valve was diagnosed in a 77 year old male patient. This is a rare congenital abnormality, usually discovered as an incidental finding during investigation of other congenital heart defects. This case shows that a detailed assessment of all cardiac structures is necessary, not only in young patients, but also in the elderly population, to minimise the under-diagnosis of such rare anomalies. The use of three dimensional transthoracic echocardiography has an increasingly significant role in establishing the diagnosis and extending the morphological and functional understanding of the anomaly...
July 25, 2017: Echo Research and Practice
https://www.readbyqxmd.com/read/28743382/preoperative-echocardiographic-measures-of-left-ventricular-mechanics-are-associated-with-postoperative-vasoactive-support-in-preterm-infants-undergoing-patent-ductus-arteriosus-ligation
#8
Margaret A Gray, Eric M Graham, Andrew M Atz, Scott M Bradley, Minoo N Kavarana, Shahryar M Chowdhury
OBJECTIVE: Preoperative risk factors associated with poor outcomes after patent ductus arteriosus ligation in preterm infants have not been well defined. The aim of this study was to determine the association between preoperative echocardiographic measures of left ventricular mechanics and postoperative clinical outcomes after patent ductus arteriosus ligation. METHODS: Preterm infants less than 90 days of age with no other significant congenital anomalies who underwent patent ductus arteriosus ligation between 2007 and 2015 were considered for retrospective analysis...
July 5, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28743099/laparoscopic-surgery-for-colon-cancer-with-intestinal-malrotation-in-adults-two-case-reports-and-review-of-literatures-in-japan
#9
Kazuyoshi Nakatani, Katsuji Tokuhara, Tatsuma Sakaguchi, Kazuhiko Yoshioka, Masanori Kon
INTRODUCTION: Intestinal malrotation is a congenital anomaly, and its occurrence in adults is rare. Colon cancer with intestinal malrotation is far more rare. We herein report two cases of colon cancer with intestinal malrotation treated with laparoscopic surgery and reviewed the literatures in Japan. PRESENTATION OF CASES: Case 1 involved a 78-year-old man. Abdominal enhanced computed tomography (CT) showed that the tumor was located in the sigmoid colon. Intraoperatively, the cecum and ascending colon were located along the midline and the small intestine occupied the right side of the abdomen...
July 13, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28742285/variable-expressivity-and-incomplete-penetrance-in-a-large-family-with-non-classical-diamond-blackfan-anemia-associated-with-ribosomal-protein-l11-splicing-variant
#10
Colleen M Carlston, Zeinab A Afify, Janice C Palumbos, Heidi Bagley, Carlos Barbagelata, Whitney L Wooderchak-Donahue, Rong Mao, John C Carey
Diamond-Blackfan anemia (DBA) is a group of clinically and genetically heterogeneous bone marrow failure disorders with or without congenital anomalies. Variable expressivity and incomplete penetrance have been observed within affected families. Diamond-Blackfan anemia-7 (DBA7), caused by heterozygous mutations in ribosomal protein L11 (RPL11), accounts for approximately 5% of DBA. DBA7 is usually characterized by early-onset bone marrow failure often accompanied by congenital malformations, especially thumb defects...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28742244/novel-prps1-gain-of-function-mutation-in-a-patient-with-congenital-hyperuricemia-and-facial-anomalies
#11
Joseph Porrmann, Elitza Betcheva-Krajcir, Nataliya Di Donato, Anne-Karin Kahlert, Jens Schallner, Andreas Rump, Evelin Schröck, Doreen Dobritzsch, Jeroen Roelofsen, André B P van Kuilenburg, Andreas Tzschach
Phosphoribosylpyrophosphate synthetase (PRPPS) superactivity (OMIM 300661) is a rare inborn error of purine metabolism that is caused by gain-of-function mutations in the X-chromosomal gene PRPS1 (Xq22.3). Clinical characteristics include congenital hyperuricemia and hyperuricosuria, gouty arthritis, urolithiasis, developmental delay, hypotonia, recurrent infections, short stature, and hearing loss. Only eight families with PRPPS superactivity and PRPS1 gain-of-function mutations have been reported to date...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28740509/multiple-bony-injuries-on-bone-scan-in-a-case-of-unsuspected-child-abuse
#12
Ya-Wen Chuang, Chien-Chin Hsu, Chin-Chuan Chang, Chia-Yang Lin, Hsiu-Lan Chu, Ying-Fong Huang, Yu-Chang Tyan
This case is described of an eleven-month-old infant with lower limbs swelling and the left elbow skeletal malformation following a fall. The radionuclide bone scan was performed to exclude bone infection or congenital skeletal anomaly. The images unexpectedly showed multiple increased radioactive foci throughout the whole body. It was a strong probability of child abuse. All lesions are readily apparent on the following plain film radiographs and MRI.
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28739660/a-gene-implicated-in-activation-of-retinoic-acid-receptor-targets-is-a-novel-renal-agenesis-gene-in-humans
#13
Patrick D Brophy, Maria Rasmussen, Mrutyunjaya Parida, Greg Bonde, Benjamin W Darbro, Xiaojing Hong, Jason C Clarke, Kevin A Peterson, James Denegre, Michael Schneider, Caroline R Sussman, Lone Sunde, Dorte L Lildballe, Jens Michael Hertz, Robert A Cornell, Stephen A Murray, John R Manak
Renal agenesis (RA) is one of the more extreme examples of congenital anomalies of the kidney and urinary tract (CAKUT). Bilateral renal agenesis is almost invariably fatal at birth, and unilateral renal agenesis can lead to future health issues including end stage renal disease. Genetic investigations have identified several gene variants which cause RA, including EYA1, LHX1, and WT1 However, whereas compound null mutations of genes encoding α and γ retinoic acid receptors (RARs) cause RA in mice, to date there have been no reports of variants in RAR genes causing RA in humans...
July 24, 2017: Genetics
https://www.readbyqxmd.com/read/28738863/single-coronary-ostium-in-a-patient-with-quadricuspid-aortic-valve-combined-with-aneurysmal-ascending-aortic-dilatation
#14
Do Yeon Kim, Hwan Wook Kim
BACKGROUND: The presence of a fourth aortic valve cusp (quadricupsid aortic valve) is a rare congenital malformation and is often accompanied by other anomalies of the adjacent cardiovascular structures. Among these concomitant anomalies, simultaneous association of both a single coronary ostium and aneurysmal ascending aortic dilation in combination with the quadricupsid aortic valve has not been reported yet. CASE PRESENTATION: We experienced the case of a 56-year-old female patient presenting as aortic regurgitation resulted from malcoaptation of quadricupsid aortic valve...
July 24, 2017: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/28738829/rare-association-of-two-cardiovascular-malformations-successfully-corrected-in-a-single-surgery-a-case-report
#15
Fu-Yang Mei, Zhi-Xuan Bai, Zhi-Bin Hu, Bing Zhou, Yong Cui
BACKGROUND: Partial anomalous pulmonary venous connection (PAPVC) without an atrial septal defect (ASD) associated with coarctation of the aortic arch is a rare congenital cardiac anomaly. This rare combination is only described in a few studies; none report the correction of these two malformations in a single surgery. CASE PRESENTATION: A 5-year-old girl was admitted to our hospital because the echocardiography revealed coarctation of the aortic arch; this diagnosis was confirmed by computed tomography (CT), which also showed her left superior pulmonary vein draining into the vertical vein without ASD (Fig...
July 24, 2017: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/28737875/-intestinal-cystic-duplication-case-report
#16
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
#17
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
#18
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
#19
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
#20
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
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