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Congenital malformation

Antonio Borzelli, Andrea Paladini, Francesco Giurazza, Salvatore Tecame, Flavio Giordano, Enrico Cavaglià, Francesco Amodio, Fabio Corvino, Daniela Beomonte Zobel, Giulia Frauenfelder, Anna Giacoma Tucci, Raffaella Niola
Pulmonary sequestration is a congenital malformation characterized by dysplastic pulmonary tissue which receives blood supply by arterial systemic system, not in communication with tracheobronchial tree. Although it could be asymptomatic, it can also cause recurrent infections and hemoptysis, rarely massive and fatal. The conventional treatment consists in surgical resection of the pulmonary sequestration, but in the last few years endovascular embolization has been proposed as a valid therapeutic alternative...
February 2018: Radiology Case Reports
Tatiana Marcela Pérez, Sandra Milena García, Martha Lucía Velasco, Angela Paola Sánchez
Interrupted aortic arch is an extremely rare congenital malformation representing about 1% of congenital heart disease. Early symptoms usually occur early in the neonatal period and clinical deterioration is often rapid and long-term prognosis is limited. Nonetheless, this condition has been identified later in adult life in rare cases. We report a case in an adult male with absence of hypertension history and no further cardiac compromise, with a severe posterior chest pain alongside dyspnea and sweating. Computed tomography angiography revealed interrupted aortic arch type A, bivalve aorta, hemopericardium, aortic dissection Stanford A, and important collateral circulation...
February 2018: Radiology Case Reports
Xiaojun Chen, Feng Xu, Fatao Liu, Zin Mar Aung, Wei Chen, Wenqing Han, Xianxian Yang, Yan Zhang, Gang Chai, Ruhong Zhang
Hemifacial microsomia (HFM) is the second most common congenital craniofacial malformation. Although many sporadic and familial cases have been studied to explore the etiology and pathogenesis of HFM, no common understanding has been reached. We aimed to further probe into the etiology of HFM through studying monozygotic twins. Here, we report two cases of pairs of monozygotic twins discordant for HFM, and performed whole-exome sequencing (WES) and bioinformatics analysis to help determine the underlying molecular mechanisms...
February 16, 2018: Journal of Cranio-maxillo-facial Surgery
C Ranieri, S Di Tommaso, D C Loconte, V Grossi, P Sanese, R Bagnulo, F C Susca, G Forte, A Peserico, A De Luisi, A Bartuli, A Selicorni, D Melis, M Lerone, A D Praticò, G Abbadessa, Y Yu, B Schwartz, Martino Ruggieri, Cristiano Simone, Nicoletta Resta
Postzygotic mutations of the PIK3CA [phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha] gene constitutively activate the PI3K/AKT/mTOR pathway in PIK3CA-related overgrowth spectrum (PROS) patients, causing congenital mosaic tissue overgrowth that even multiple surgeries cannot solve. mTOR inhibitors are empirically tested and given for compassionate use in these patients. PROS patients could be ideal candidates for enrolment in trials with PI3K/AKT pathway inhibitors, considering the "clean" cellular setting in which a unique driver, a PIK3CA mutation, is present...
March 16, 2018: Neurogenetics
Dorit Schöller, Marieke Hölting, Diana Stefanescu, Helen Burow, Birgitt Schönfisch, Katharina Rall, Florin-Andrei Taran, Grigoris F Grimbizis, Attilio Di Spiezio Sardo, Sara Y Brucker
PURPOSE: Several classification systems for female genital tract anomalies exist but are of limited use in clinical practice. We, therefore, assessed the applicability and ease of use of the new ESHRE/ESGE classification, using only patient records. METHODS: This retrospective, single-center, proof-of-principle study systematically analyzed the surgical reports and other hospital records of 920 inpatients and outpatients treated for confirmed female genital tract congenital malformations at a major German university hospital during 2003-2013...
March 16, 2018: Archives of Gynecology and Obstetrics
Barbara Mostacci, Francesca Bisulli, Elisabetta Poluzzi, Guido Cocchi, Carlo Piccinni, Alessandra Curti, Giuliana Simonazzi, Gianni Astolfi, Nicola Rizzo, Corrado Zenesini, Roberto D'Alessandro, Paolo Tinuper
OBJECTIVES: To assess the prevalence of antiepileptic drug (AED) exposure in pregnant women and the comparative risk of terminations of pregnancy (TOPs), spontaneous abortions, stillbirths, major birth defects (MBDs), neonatal distress and small for gestational age (SGA) infants following intrauterine AED exposure in the Emilia Romagna region, Italy (4 459 246 inhabitants on 31 December 2011). METHODS: We identified all deliveries and hospitalised abortions in Emilia Romagna in the period 2009-2011 from the certificate of delivery assistance registry (Certificato di Assistenza al Parto- CedAP) and the hospital discharge card registry, exposure to AEDs from the reimbursed drug prescription registries, MBDs from the regional registry of congenital malformations, and Apgar scores and cases of SGA from the CedAP...
March 16, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
Donal Bisanzio, Felipe Dzul-Manzanilla, Hector Gomez-Dantés, Norma Pavia-Ruz, Thomas J Hladish, Audrey Lenhart, Jorge Palacio-Vargas, Jesus F González Roldan, Fabian Correa-Morales, Gustavo Sánchez-Tejeda, Pablo Kuri Morales, Pablo Manrique-Saide, Ira M Longini, M Elizabeth Halloran, Gonzalo M Vazquez-Prokopec
Response to Zika virus (ZIKV) invasion in Brazil lagged a year from its estimated February 2014 introduction, and was triggered by the occurrence of severe congenital malformations. Dengue (DENV) and chikungunya (CHIKV) invasions tend to show similar response lags. We analyzed geo-coded symptomatic case reports from the city of Merida, Mexico, with the goal of assessing the utility of historical DENV data to infer CHIKV and ZIKV introduction and propagation. About 42% of the 40,028 DENV cases reported during 2008-2015 clustered in 27% of the city, and these clustering areas were where the first CHIKV and ZIKV cases were reported in 2015 and 2016, respectively...
March 15, 2018: PLoS Neglected Tropical Diseases
Mireguli Tuersunjiang, Xing Long, Yuchuan Fu, Jin Ke, He Huijun, Jian Li
Bifid nose, an indicator of Tessier No.0, is a rare congenital malformation. Because of its rarity, few cases were reported and the optimal surgical procedure and the best time for surgery have not been widely acknowledged. In this brief report, a 9-year-old girl with mild bifid nose and unilateral mini-microform cleft lip, and its surgical management, is presented. We focused our attention on modifying the shape of the nose through open rhinoplasty without excising the surplus skin on the nasal dorsum and achieved good results...
March 14, 2018: Journal of Craniofacial Surgery
Jun Ma, Bin Chen, Dong Li, Yue Zhang, Zhaoxia Ying
Port-wine stain (PWS) birthmark is a congenital microvascular malformation of the skin. A 1064-nm Nd:YAG laser can achieve a deeper treatment, but the weak absorption by blood limits its clinical application. Multiple laser pulses (MLPs) are a potential solution to enhance the curative effect of a Nd:YAG laser. To reduce the pulse number (pn ) required for the thermal destruction of the blood vessel, the effect of glucose in conjunction with MLP was investigated. In vivo experiments were performed on a dorsal skin chamber model...
March 14, 2018: Lasers in Medical Science
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
Manuela Germeshausen, Phil Ancliff, Jaime Estrada, Markus Metzler, Eva Ponstingl, Horst Rütschle, Dirk Schwabe, Richard H Scott, Sule Unal, Angela Wawer, Bernward Zeller, Matthias Ballmaier
Heterozygous mutations in MECOM (MDS1 and EVI1 complex locus) have been reported to be causative of a rare association of congenital amegakaryocytic thrombocytopenia and radioulnar synostosis. Here we report on 12 patients with congenital hypomegakaryocytic thrombocytopenia caused by MECOM mutations (including 10 novel mutations). The mutations affected different functional domains of the EVI1 protein. The spectrum of phenotypes was much broader than initially reported for the first 3 patients; we found familial as well as sporadic cases, and the clinical spectrum ranged from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormality...
March 27, 2018: Blood Advances
Juanjuan Zhao, Mathilda T M Mommersteeg
The Slit ligands and their Robo receptors are well-known for their roles during axon guidance in the central nervous system, but are still relatively unknown in the cardiac field. However, data from different animal models suggest a broad involvement of the pathway in many aspects of heart development, from cardiac cell migration and alignment, lumen formation, chamber formation, to the formation of the ventricular septum, semilunar and atrioventricular valves, caval veins and pericardium. Absence of one or more of the genes in the pathway results in defects ranging from bicuspid aortic valves to ventricular septal defects and abnormal venous connections to the heart...
March 10, 2018: Cardiovascular Research
Priscila H A Oliveira, Beatriz S Souza, Eimi N Pacheco, Michele S Menegazzo, Ivan S Corrêa, Paulo R G Zen, Rafael F M Rosa, Claudia C Cesa, Lucia C Pellanda, Manuel A P Vilela
BACKGROUND: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. OBJECTIVE: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes...
January 2018: Arquivos Brasileiros de Cardiologia
Fernando A Poletta, Monica Rittler, Cesar Saleme, Hebe Campaña, Juan A Gili, Mariela S Pawluk, Lucas G Gimenez, Viviana R Cosentino, Eduardo E Castilla, Jorge S López-Camelo
BACKGROUND: Historically, neural tube defects (NTDs) have predominated in female infants but the reasons remain unclear. In South America, the pre- folic acid fortification (FAF) rates of NTDs were around 18/10,000 births for females and 12/10,000 births for males, with an estimated sex ratio (male/female) of 0.67. During the post- FAF period, unpublished routine reports have indicated changes in the sex ratio for these defects while some descriptive reports are controversial. To date and to our knowledge, however, no studies specifically focusing on these changes to test this hypothesis directly have been undertaken...
2018: PloS One
Anna Cavigelli-Brunner, Maja I Hug, Hitendu Dave, Oskar Baenziger, Christoph Buerki, Dominique Bettex, Vincenzo Cannizzaro, Christian Balmer
OBJECTIVES: Dobutamine and milrinone are commonly used after open-heart surgery to prevent or treat low cardiac output syndrome. We sought to compare efficacy and safety of these drugs in pediatric patients. DESIGN: Prospective, single-center, double-blinded, randomized clinical pilot study. SETTING: Tertiary-care university children's hospital postoperative pediatric cardiac ICU. PATIENTS: After written consent, 50 consecutive patients (age, 0...
March 13, 2018: Pediatric Critical Care Medicine
Rajesh Kumari, Venus Dalal, Garima Kachhawa, Ipshita Sahoo, Rajesh Khadgawat, Reeta Mahey, Vidushi Kulshrestha, Perumal Vanamail, J B Sharma, Neerja Bhatla, Alka Kriplani
Background: Gestational diabetes mellitus (GDM) is defined as a carbohydrate intolerance first diagnosed in pregnancy and may be associated with adverse maternal and perinatal outcome. Aim: The aim of the study was to determine the maternal and perinatal outcome in GDM during pregnancy. Materials and Methods: It is a retrospective analysis of women diagnosed with GDM who got antenatal care and delivered in our hospital in previous 5 years...
January 2018: Indian Journal of Endocrinology and Metabolism
Anamaria Balic
The tooth is an intricate composition of precisely patterned, mineralized matrices and soft tissues. Mineralized tissues include enamel (produced by the epithelial cells called ameloblasts), dentin and cementum (produced by mesenchymal cells called odontoblasts and cementoblasts, respectively), and soft tissues, which include the dental pulp and the periodontal ligament along with the invading nerves and blood vessels. It was perceived for a very long time that teeth primarily serve an esthetical function. In recent years, however, the role of healthy teeth, as well as the impact of oral health on general well-being, became more evident...
March 13, 2018: Gerontology
Vijaya Kancherla, Robert E Black
Neural tube defects (NTD) are major congenital malformations affecting births worldwide. NTD are associated with life-long disability, significant medical care costs, and child mortality. Their prevalence varies worldwide. We conducted a review of published literature and surveillance systems to examine challenges in estimating an overall global prevalence estimate for NTD. Our review showed that most low- and middle-income countries do not track NTD and indicate a high prevalence of these malformations where data are available...
February 2018: Annals of the New York Academy of Sciences
Karen L Price, Maria Kolatsi-Joannou, Chiara Mari, David A Long, Paul J D Winyard
Kidney function is directly linked to the number of nephrons which are generated until 32-36 weeks gestation in humans. Failure to make nephrons during development leads to congenital renal malformations, whilst nephron loss in adulthood occurs in progressive renal disease. Therefore, an understanding of the molecular processes which underlie human nephron development may help design new treatments for renal disease. Mesenchyme to epithelial transition (MET) is critical for forming nephrons, and molecular pathways which control rodent MET have been identified...
December 2018: Cell Death Discovery
Rizwana Yasmin, Dorte R Stærk, Anna Kalhauge, Henrik J Hansen, Tina E Olsen, Lisa L Maroun
Bilateral pulmonary sequestration (PS) is a very rare congenital malformation. We describe a case of bilateral intralobar pulmonary sequestration (ILS) in a newborn. Both sequestrations received arterial supply from separate branches of the descending aorta and venous drainage was into ipsilateral inferior pulmonary veins. Prenatal ultrasonography showed cystic changes in the lungs. Computed tomography angiography (CTA) with supplemental two-dimensional (2D) and three-dimensional (3D) images was performed to clearly define the pathology and revealed bilateral intralobar pulmonary sequestration with aberrant blood supply...
March 2018: Acta Radiologica Open
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