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Congenital malformations

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https://www.readbyqxmd.com/read/29153187/otoplasty-for-congenital-auricular-malformations
#1
REVIEW
Jiahui Lin, Anthony P Sclafani
Among the less common congenital auricular anomalies are cryptotia, Stahl ear, constricted ear, and macrotia. The vast majority of these occur spontaneously without accompanying syndromes or other deformities. This article provides a comprehensive overview of these anomalies, as well as common techniques to correct these anomalies.
February 2018: Facial Plastic Surgery Clinics of North America
https://www.readbyqxmd.com/read/29153066/-age-related-prevalence-of-toxoplasmosis-among-pregnant-women-in-hatay-estimation-depending-on-model
#2
Meryem Çetin, Şirin Çetin
Toxoplasmosis, caused by the obligate intracellular protozoan Toxoplasma gondii, is a common parasitic infection affecting approximately one-third of the world population. T.gondii infections are usually acquired by ingesting raw or insufficiently cooked meat and from unwashed fruits and vegetables contaminated with soil or water with cat feces. Primary infection acquired during pregnancy can cause severe congenital abnormalities in the fetus such as neurologic and ocular malformations, abortion, or stillbirth according to the degree of infection...
October 2017: Mikrobiyoloji Bülteni
https://www.readbyqxmd.com/read/29153045/treatment-of-clubfoot-with-the-modified-copenhagen-method-a-10-year-follow-up
#3
Elia Utrilla-Rodríguez, Pedro V Munuera-Martínez, Manuel Albornoz-Cabello
BACKGROUND: Clubfoot is one of the most frequent congenital malformations in the world. Non-operative methods follows limiting surgery to a minimum. The modified Copenhagen method has not been studied enough. STUDY DESIGN: longitudinal retrospective study. OBJECTIVES: To evaluate prognostic factors for clinical rehabilitation with the modified Copenhagen method in a 10-year follow-up period. METHODS: A retrospective study was carried out on a 10-year follow-up of 82 children diagnosed with clubfoot at birth and treated with the modified Copenhagen method...
November 1, 2017: Prosthetics and Orthotics International
https://www.readbyqxmd.com/read/29152426/an-overview-of-infant-mortality-trends-in-qatar-from-2004-to-2014
#4
Mohammed Al-Thani, Al-Anoud Al-Thani, Amine Toumi, Shams Eldin Khalifa, Hammad Akram
Background Infant mortality is an important health indicator that estimates population well-being. Infant mortality has declined globally but is still a major public health challenge. This article provides the characteristics, causes, burden, and trends of infant mortality in Qatar. Methods Frequencies, percentages, and rates were calculated using data from birth-death registries over 2004-2014 to describe infant mortality by nationality, gender, and age group. We calculated the relative risks of the top causes of infant mortality among subgroups according to the 10(th) Revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10, Version 2016)...
September 9, 2017: Curēus
https://www.readbyqxmd.com/read/29150347/-perineal-groove-case-report-and-review-of-the-literature
#5
Y de La Monneraye, G Benoist, L Marchesi, A-S Crosnier, V Guinard-Samuel
Perineal groove is a rare anoperineal congenital malformation, usually occurring in girls, unknown to many pediatricians. We report the case of a 17-day-old girl admitted for urinary infection, who presented a wet sulcus with mucous membrane, extending from the vaginal fourchette to the anterior border of the anus. The diagnosis of perineal groove was clinically confirmed, after elimination of misdiagnosis such as infection or trauma. This benign malformation tends to be self-epithelialized in the 1st year of life, and no surgical treatment is recommended, except for cosmetic reasons or for recurrent infections...
November 14, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29147966/polyamine-concentration-is-increased-in-thoracic-ascending-aorta-of-patients-with-bicuspid-aortic-valve
#6
Amalia Forte, Mario Grossi, Ciro Bancone, Marilena Cipollaro, Marisa De Feo, Per Hellstrand, Lo Persson, Bengt-Olof Nilsson, Alessandro Della Corte
Polyamines are cationic molecules synthesized via a highly regulated pathway, obtained from the diet or produced by the gut microbiota. They are involved in general molecular and cellular phenomena that play a role also in vascular disease. Bicuspid aortic valve (BAV) is a congenital malformation associated to a greater risk of thoracic ascending aorta (TAA) aneurysm, whose pathogenesis is not yet well understood. We focused on differential analysis of key members of polyamine pathway and on polyamine concentration in non-dilated TAA samples from patients with either stenotic tricuspid aortic valve (TAV) or BAV (diameter ≤ 45 mm), vs...
November 17, 2017: Heart and Vessels
https://www.readbyqxmd.com/read/29147813/noninvasive-induction-of-angiogenesis-in-tissues-by-external-suction-sequential-optimization-for-use-in-reconstructive-surgery
#7
G Giatsidis, L Cheng, A Haddad, K Ji, J Succar, L Lancerotto, J Lujan-Hernandez, P Fiorina, H Matsumine, D P Orgill
In reconstructive surgery, tissues are routinely transferred to repair a defect caused by trauma, cancer, chronic diseases, or congenital malformations; surgical transfer intrinsically impairs metabolic supply to tissues placing a risk of ischemia-related complications such as necrosis, impaired healing, or infection. Pre-surgical induction of angiogenesis in tissues (preconditioning) can limit postsurgical ischemic complications and improve outcomes, but very few preconditioning strategies have successfully been translated to clinical practice due to the invasiveness of most proposed approaches, their suboptimal effects, and their challenging regulatory approval...
November 17, 2017: Angiogenesis
https://www.readbyqxmd.com/read/29146774/split-hand-foot-malformation-a-potential-clue-to-underlying-fgfr1-mutation-in-patients-with-isolated-congenital-hypogonadotropic-hypogonadism
#8
Partha Pratim Chakraborty, Rana Bhattacharjee, Satinath Mukhopadhyay, Subhankar Chowdhury
No abstract text is available yet for this article.
November 16, 2017: Postgraduate Medical Journal
https://www.readbyqxmd.com/read/29146711/ethics-health-policy-and-zika-from-emergency-to-global-epidemic
#9
Euzebiusz Jamrozik, Michael J Selgelid
Zika virus was recognised in 2016 as an important vector-borne cause of congenital malformations and Guillain-Barré syndrome, during a major epidemic in Latin America, centred in Northeastern Brazil. The WHO and Pan American Health Organisation (PAHO), with partner agencies, initiated a coordinated global response including public health intervention and urgent scientific research, as well as ethical analysis as a vital element of policy design. In this paper, we summarise the major ethical issues raised during the Zika epidemic, highlighting the PAHO ethics guidance and the role of ethics in emergency responses, before turning to ethical issues that are yet to be resolved...
November 16, 2017: Journal of Medical Ethics
https://www.readbyqxmd.com/read/29145433/maternal-folic-acid-supplementation-and-dietary-folate-intake-and-congenital-heart-defects
#10
Baohong Mao, Jie Qiu, Nan Zhao, Yawen Shao, Wei Dai, Xiaochun He, Hongmei Cui, Xiaojuan Lin, Ling Lv, Zhongfeng Tang, Sijuan Xu, Huang Huang, Min Zhou, Xiaoying Xu, Weitao Qiu, Qing Liu, Yawei Zhang
BACKGROUND: It has been reported that folic acid supplementation before and/or during pregnancy could reduce the risk of congenital heart defects (CHDs). However, the results from limited epidemiologic studies have been inconclusive. We investigated the associations between maternal folic acid supplementation, dietary folate intake, and the risk of CHDs. METHODS: A birth cohort study was conducted in 2010-2012 at the Gansu Provincial Maternity & Child Care Hospital in Lanzhou, China...
2017: PloS One
https://www.readbyqxmd.com/read/29145358/progress-in-rubella-and-congenital-rubella-syndrome-control-and-elimination-worldwide-2000-2016
#11
Gavin B Grant, Susan E Reef, Minal Patel, Jennifer K Knapp, Alya Dabbagh
Although rubella virus infection usually causes a mild fever and rash illness in children and adults, infection during pregnancy, especially during the first trimester, can result in miscarriage, fetal death, stillbirth, or infants with a constellation of congenital malformations known as congenital rubella syndrome (CRS) (1). Rubella is a leading vaccine-preventable cause of birth defects. Preventing these adverse pregnancy outcomes is the focus of rubella vaccination programs. In 2011, the World Health Organization (WHO) updated guidance on the preferred strategy for introduction of rubella-containing vaccine (RCV) into national immunization schedules and recommended an initial vaccination campaign, usually targeting children aged 9 months-14 years (1)...
November 17, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/29145266/catheter-ablation-of-ventricular-arrhythmia-originating-from-isolated-outflow-tract-diverticulum-two-case-reports-and-literature-review
#12
Xinbin Zhou, Haibin Xu, Zhijun Wang
RATIONALE: Congenital ventricular diverticulum is a rare cardiac malformation with a prevalence of about 0.26% in unselected adult patients during other diagnostic procedures. Ventricular arrhythmia originating from outflow tract diverticulum is even rarer and its etiology, epidemiology and proper treatment still remain controversial. PATIENT CONCERNS: We present 2 cases of isolated outflow tract diverticulum incidentally revealed by cardiac angiography during catheter ablation for ventricular arrhythmia...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29143121/telomere-length-of-gallbladder-epithelium-is-shortened-in-patients-with-congenital-biliary-dilatation-measurement-by-quantitative-fluorescence-in-situ-hybridization
#13
Yuto Aoki, Junko Aida, Youichi Kawano, Ken-Ichi Nakamura, Naotaka Izumiyama-Shimomura, Naoshi Ishikawa, Tomio Arai, Yoshiharu Nakamura, Nobuhiko Taniai, Eiji Uchida, Kaiyo Takubo, Toshiyuki Ishiwata
BACKGROUND: Congenital biliary dilatation (CBD) is a congenital malformation involving both dilatation of the extrahepatic bile duct and pancreaticobiliary maljunction. Persistent reflux of pancreatic juice injures the biliary tract mucosa, resulting in chronic inflammation and higher rates of carcinogenesis in the biliary tract, including the gallbladder. Telomeres are repetitive DNA sequences located at the ends of chromosomes. Chromosomal instability due to telomere dysfunction plays an important role in the carcinogenesis of many organs...
November 15, 2017: Journal of Gastroenterology
https://www.readbyqxmd.com/read/29143062/-intracranial-cystic-lesions
#14
REVIEW
F Ahlhelm, K Shariat, S Götschi, S Ulmer
CLINICAL PROBLEM: Intracerebral cysts are common findings in imaging of the neurocranium and are not always clinically significant. The pathological spectrum of intracerebral cysts is, however, very broad and in addition to incidental findings includes developmental disorders, malformation tumors, primary and secondary neoplasms and infectious etiologies, such as cerebral abscess formation, cysticercosis or residuals after congenital cytomegalovirus infections. Intracerebral cystic defects may be caused by inflammatory central nervous system (CNS) diseases, such as multiple sclerosis as well as by mitochondriopathies, leukodystrophy, electrolyte disturbances or osmotic demyelination syndrome or brain infarctions, e...
November 15, 2017: Der Radiologe
https://www.readbyqxmd.com/read/29142782/massive-left-sided-congestive-colitis-due-to-idiopathic-inferior-mesenteric-arteriovenous-malformation
#15
Laura Martí Gelonch, Jose Maria Enríquez-Navascués, Tania Pastor Bonel, Yolanda Saralegui Ansorena
Arteriovenous malformations (AVM) of the inferior mesenteric artery are rare. They may be primary (congenital or idiopathic) or secondary (acquired) after trauma or of iatrogenic origin. Of the abdominal AVM, the inferior mesenteric trunk is the least commonly involved. Most reported cases are of iatrogenic origin, resulting from colon surgery. Only 17 cases have been described and published in the literature. The objective of this work is to make known a case treated in our center. We present a case of 73-year old male, who came to the emergency service with symptoms of abdominal distension, pain lasting 48 hours along with months of diarrhoea...
2017: Journal of Clinical Imaging Science
https://www.readbyqxmd.com/read/29142766/mutations-in-nsd1-and-nfix-in-three-patients-with-clinical-features-of-sotos-syndrome-and-malan-syndrome
#16
Yongping Lu, Pin Fee Chong, Ryutaro Kira, Toshiyuki Seto, Yumiko Ondo, Keiko Shimojima, Toshiyuki Yamamoto
Mutations in nuclear receptor SET domain-containing protein 1 gene ( NSD1 ) are related to Sotos syndrome, which is characterized by overgrowth, macrocephaly, distinctive features, and neurodevelopmental disabilities. On the other hand, mutations in the nuclear factor I/X gene ( NFIX ) can lead to Malan syndrome, also known as Sotos-like syndrome, or to the Marshall-Smith syndrome. In this study, using next generation sequencing (NGS), we identified de novo mutations in NSD1 and NFIX in three patients with developmental disabilities associated with overgrowth or macrocephaly...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142763/array-characterization-of-prenatally-diagnosed-15q26-microdeletion-and-2q37-1-duplication-report-of-a-new-case-with-multicystic-kidneys-and-review-of-the-literature
#17
Molka Kammoun, Wafa Slimani, Hanene Hannachi, Mohamed Bibi, Ali Saad, Soumaya Mougou-Zerelli
We report on a molecular cytogenetic characterization of 15q26 deletion and 2q37.1 duplication in a fetus presenting with intrauterine growth restriction (IUGR), diaphragmatic hernia, multicystic kidneys, left kidney pyelectasis, and clubfeet. A terminal 15q26 deletion and a terminal 2q duplication of at least 10 and 9 Mb, respectively, derived from a maternal translocation, were found. The 15q26 deletion represents a contiguous gene deletion syndrome mainly characterized by IUGR, congenital diaphragmatic hernia, and less frequently kidney defects...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29141064/port-wine-stains-a-focused-review-on-their-management
#18
Katelyn Mariko Updyke, Amor Khachemoune
<p>Port-wine stain (PWS) is the second most common congenital vascular malformation characterized as ectatic capillaries and venules in the dermis that clinically appears as a deep red to purple patch on the skin. Typically, PWS progressively darken and may become hypertrophic or nodular without treatment. There are several treatment options available for PWS from topical antiangiogenic agents to laser therapies. Vascular-specific lasers are the gold standard in treating PWS and classically pulsed dye lasers are usually the treatment of choice...
November 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/29140751/further-delineation-of-the-oculoauricular-syndrome-phenotype-a-new-family-with-a-novel-truncating-hmx1-mutation
#19
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Mennat I Mehrez, Ahmad M Kamal, Mohamed B Taher, Hanan H Afifi
Biallelic HMX1 mutations cause a very rare autosomal recessive genetic disorder termed as oculoauricular syndrome (OAS) because it is characterized only by the combination of eye and ear anomalies. We identified a new family bringing to three the total families reported with this disorder. Our proband presented with anteriorly protruded ears and malformed ear pinnae in association with microphthalmia, congenital cataract, microcornea, and iris and optic disc colobomata. Additionally, he had high and broad forehead with asymmetry giving a recognizable facial gestalt...
November 15, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29137094/a-novel-non-contrast-enhanced-mra-using-silent-scan-for-evaluation-of-brain-arteriovenous-malformation-a-case-report-and-review-of-literature
#20
Jin Il Moon, Hye Jin Baek, Kyeong Hwa Ryu, Hyun Park
RATIONALE: Brain arteriovenous malformations (AVMs) are congenital vascular abnormalities involving abnormal connections between arteries and veins. In clinical practice, imaging studies help evaluate feeding arteries, niduses, draining venous systems, and coexisting complications in patients with brain AVM. They also have an impact on decision-making regarding clinical management. We applied a novel non-contrast-enhanced MR angiography (MRA) technique, termed "silent MRA," for evaluating an incidental brain AVM...
November 2017: Medicine (Baltimore)
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