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Congenital defects

Athiel Yoann, Barrois Mathilde, Bault Jean-Philippe, Cohen Laurence, Leroy Brigitte, Quibel Thibaud
Congenital ventricular aneurysms and diverticula are rare congenital heart diseases, currently accessible to prenatal diagnosis. Information on the natural course of ventricular aneurysm or diverticulum detected during fetal life is limited as there are only few case reports and case series enumerating the defect. We aimed to describe through three cases, the prenatal features and clinical outcomes of fetal cardiac aneurysms. The first one was diagnosed during the second trimestrer and spontaneous evolution was favorable...
June 19, 2018: Journal of Gynecology Obstetrics and Human Reproduction
Maria I Patrício, Alun R Barnard, Kanmin Xue, Robert E MacLaren
INTRODUCTION: Choroideremia is an X-linked inherited retinal degeneration that causes blindness in afflicted males by middle age. The causative gene, CHM, plays a key role in intracellular trafficking pathways, and its disruption impairs cell homeostasis. Areas covered: The mechanism by which mutations in CHM cause choroideremia is still under debate. Here we describe the molecular defects in choroideremia cells regarding both the deficiency of prenylation and the involvement of Rab GTPases...
June 22, 2018: Expert Opinion on Biological Therapy
Tulio Fabiano de Oliveira Leite, Lucas Alves Sarmento Pires, Rafael Cisne, Marcio Antonio Babinski, Carlos Alberto Araujo Chagas
The right subclavian artery may originate from the left portion of the aortic arch. This aberrant vessel is known as the arteria lusoria. Its course to its usual site runs behind the esophagus, which may cause a disease known as dysphagia lusoria, responsible for symptoms of discomfort. This artery is often associated with other anomalies, such as the non-recurrent laryngeal nerve and the bicarotid trunk, and with diseases such as aneurysms, congenital heart defects, and even genetic syndromes. During routine dissection of a male cadaver fixed in 10% formalin solution, an arteria lusoria was found...
October 2017: Jornal Vascular Brasileiro
Saadiah Goolam, Nadia Carstens, Mark Ross, David Bentley, Margarida Lopes, John Peden, Zoya Kingsbury, Eleni Tsogka, Robyn Barlow, Trevor R Carmichael, Michèle Ramsay, Susan E Williams
Purpose: To report on a clinical and genetic investigation of a large, multigenerational South African family of mixed ancestry with autosomal dominant congenital cataracts, coloboma, and nystagmus. Methods: Ophthalmic examination was performed in 27 individuals from the same admixed South African family. DNA was sampled from either peripheral blood or buccal swabs in all 27 individuals, and whole genome sequencing was performed in six individuals. Sanger sequencing was used to validate the probable mutation in the remaining family members...
2018: Molecular Vision
Manoj Nepal, Chi Ma, Guoxiang Xie, Wei Jia, Peiwen Fei
Given importance of 22-Fanconi Anemia (FA) proteins together to act in a signaling pathway in preventing deleterious clinical symptoms, e.g. severe bone marrow failure, congenital defects, an early onset of aging and cancer, studies on each FA protein become increasingly attractive. However, an unbiased and systematic investigation of cellular effects resulting from each FA protein is missing. Here, we report roles of FA complementation C group protein (FANCC) in the protection from metabolic disorders. This study was prompted by the diabetes-prone feature displayed in FANCC knockout mice, which is not typically shown in patients with FA...
June 21, 2018: Aging
Marta-Catalina Miranda-Fernández, Silvia Ramírez-Oyaga, Carlos M Restrepo, Victor-Manuel Huertas-Quiñones, Magally Barrera-Castañeda, Rossi Quero, Camilo-José Hernández-Toro, Claudia Tamar Silva, Paul Laissue, Rodrigo Cabrera
Ebstein anomaly (EA) is a rare congenital heart defect (CHD) with a poorly characterized genetic etiology. However, some EA patients carry deletions in 1p36, all of which have been reported to carry distal deletions and share loss of the PRDM16 gene, which is currently considered the most likely candidate for EA development in this region. Here, we report a patient with an 11.96-Mb proximal 1p36 deletion, without loss of PRDM16 , who presented with EA and a proximal deletion phenotype. This finding suggests that PRDM16 loss is not required for the development of EA in 1p36 deletions and that the loss of an additional proximal locus in 1p36 is also likely associated with EA...
May 2018: Molecular Syndromology
Lark L Coffey, Rebekah I Keesler, Patricia A Pesavento, Kevin Woolard, Anil Singapuri, Jennifer Watanabe, Christina Cruzen, Kari L Christe, Jodie Usachenko, JoAnn Yee, Victoria A Heng, Eliza Bliss-Moreau, J Rachel Reader, Wilhelm von Morgenland, Anne M Gibbons, Kenneth Jackson, Amir Ardeshir, Holly Heimsath, Sallie Permar, Paranthaman Senthamaraikannan, Pietro Presicce, Suhas G Kallapur, Jeffrey M Linnen, Kui Gao, Robert Orr, Tracy MacGill, Michelle McClure, Richard McFarland, John H Morrison, Koen K A Van Rompay
Zika virus (ZIKV) infection of pregnant women can cause fetal microcephaly and other neurologic defects. We describe the development of a non-human primate model to better understand fetal pathogenesis. To reliably induce fetal infection at defined times, four pregnant rhesus macaques are inoculated intravenously and intraamniotically with ZIKV at gestational day (GD) 41, 50, 64, or 90, corresponding to first and second trimester of gestation. The GD41-inoculated animal, experiencing fetal death 7 days later, has high virus levels in fetal and placental tissues, implicating ZIKV as cause of death...
June 20, 2018: Nature Communications
Naritaka Kimura
Congenital heart disease (CHD) is the most common birth defect, affecting 1 in 100 babies. Among CHDs, single ventricle (SV) physiologies, such as hypoplastic left heart syndrome and tricuspid atresia, are particularly severe conditions that require multiple palliative surgeries, including the Fontan procedure. Although the management strategies for SV patients have markedly improved, the prevalence of ventricular dysfunction continues to increase over time, especially after the Fontan procedure. At present, the final treatment for SV patients who develop heart failure is heart transplantation; however, transplantation is difficult to achieve because of severe donor shortages...
June 19, 2018: Keio Journal of Medicine
Penghui Li, Xianliang Ke, Ting Wang, Zhongyuan Tan, Dan Luo, Yuanjiu Miao, Jianhong Sun, Yuan Zhang, Yan Liu, Qinxue Hu, Fuqiang Xu, Hanzhong Wang, Zhenhua Zheng
Zika virus (ZIKV) infection during the large epidemics in the Americas is related to congenital abnormities or fetal demise. To date, there is no vaccine, antiviral drug, or other modality available to prevent or treat Zika virus infection. Here we designed novel live attenuated ZIKV vaccine candidates using a codon pair deoptimization strategy. Three codon pair-deoptimized ZIKVs (Min E, Min NS1, and Min E+NS1) were de novo synthesized, and recovered by reverse genetics, containing large amounts of underrepresented codon pairs in E gene and/or NS1 gene...
June 20, 2018: Journal of Virology
Francesca Maria Russo, Anne-Gael Cordier, Luc De Catte, Julien Saada, Alexandra Benachi, Jan Deprest
Congenital diaphragmatic hernia is a rare disease associated with high mortality and morbidity. Antenatal ultrasound screening identifies more than 70% of cases, providing the opportunity for in-utero referral to a tertiary care center for expert assessment and perinatal management. Additional genetic and morphologic assessment may be used to rule out associated anomalies. In isolated cases, the outcome may be predicted prenatally by medical imaging. The combination of lung size and liver herniation is a widely accepted method to stratify fetuses into groups with an increasing degree of pulmonary hypoplasia and corresponding mortality rates...
June 20, 2018: Prenatal Diagnosis
Marissa K Shoji, Hajirah N Saeed, Larissa A Habib, Suzanne K Freitag
A female neonate presented with a pedunculated left lateral epibulbar mass protruding through the eyelids that originated from the temporal cornea and superolateral bulbar and palpebral conjunctiva. She had a cleft in the ipsilateral central upper eyelid with horizontal kink of the tarsus lateral to the cleft and focal patches of alopecia on the scalp. Histopathology of the epibulbar mass revealed conjunctival epithelium with underlying connective tissue, cartilage, bone, adipose, and lacrimal gland consistent with epibulbar dermoid...
June 18, 2018: Ophthalmic Plastic and Reconstructive Surgery
Amélie Pinard, Nathalie Eudes, Julia Mitchell, Fanny Bajolle, Maude Grelet, Joséphine Okoronkwo, Damien Bonnet, Gwenaelle Collod-Béroud, Stéphane Zaffran
Ventricular septal defect (VSD) including outlet VSD of double outlet right ventricle (DORV) and perimembranous VSD are among the most common congenital heart diseases found at birth. HOXB1 encodes a homeodomain transcription factor essential for normal cardiac outflow tract development. The aim of the present study was to investigate the possible genetic effect of sequence variations in HOXB1 on VSD. The coding regions and splice junctions of the HOXB1 gene were sequenced in 57 unrelated VSD patients. As a result, a homozygous c...
June 19, 2018: Molecular Biology Reports
Anna Cantarutti, Matteo Franchi, Federico Rea, Luca Merlino, Giovanni Corrao
INTRODUCTION: Nimesulide is the most prescribed non-steroidal anti-inflammatory drug in Italy, and it is currently marketed in about 50 countries worldwide. The association between the use of nimesulide in early pregnancy and the risk of birth defects was investigated in a large cohort of pregnant women from Italy. METHODS: Data were from the healthcare utilization databases of the Italian region of Lombardy. The cohort of 353,081 newborns occurring in Lombardy during the period 2005-2010 was investigated...
June 19, 2018: Advances in Therapy
Wen Wei, Bin Liu, Haisong Jiang, Kangxin Jin, Mengqing Xiang
Mutations in the human transcription factor gene ZEB2 cause Mowat-Wilson syndrome, a congenital disorder characterized by multiple and variable anomalies including microcephaly, Hirschsprung disease, intellectual disability, epilepsy, microphthalmia, retinal coloboma, and/or optic nerve hypoplasia. Zeb2 in mice is involved in patterning neural and lens epithelia, neural tube closure, as well as in the specification, differentiation and migration of neural crest cells and cortical neurons. At present, it is still unclear how Zeb2 mutations cause retinal coloboma, whether Zeb2 inactivation results in retinal degeneration, and whether Zeb2 is sufficient to promote the differentiation of different retinal cell types...
June 19, 2018: Molecular Neurobiology
Glenda Castellanos, Sana Nasim, Denise M Almora, Sasmita Rath, Sharan Ramaswamy
Heart valve replacement options remain exceedingly limited for pediatric patients because they cannot accommodate somatic growth. To overcome this shortcoming, heart valve tissue engineering using human bone marrow stem cells (HBMSCs) has been considered a potential solution to the treatment of critical congenital valvular defects. The mechanical environments during in vitro culture are key regulators of progenitor cell fate. Here, we report on alterations in HBMSCs, specifically in their actin cytoskeleton and their nucleus under fluid-induced shear stresses of relevance to heart valves...
2018: Frontiers in Cardiovascular Medicine
Gabriel C Dworschak, Hartmut Engels, Jessica Becker, Lukas Soellner, Thomas Eggermann, Florian Kipfmueller, Andreas Müller, Heiko Reutter, Martina Kreiß
Background: Congenital diaphragmatic hernia (CDH) is a rare defect of the diaphragm commonly associated with high morbidity and mortality due to lung hypoplasia and pulmonary hypertension. Although in 70% of patients the etiology of a CDH remains unknown, a multitude of causative chromosomal aberrations has been identified. Case presentation: We describe the first case of isolated 11p15 duplication with CDH. The 18.6 Mb large duplication affected 285 RefSeq genes and included the Beckwith-Wiedemann (BWS)-associated imprinting control region 2 (ICR2, KCNQ1OT1 TSS DMR), whereas the ICR1 ( H19 TSS DMR) was not affected...
2018: Frontiers in Pediatrics
Maha Jahangir, Marrium Nawaz, Fareha Jabbar, Fahad Khan, Nimra Hasnain
Atrial septal defect (ASD) is a common congenital abnormality, which accounts for 20-40% of all the adult patients with congenital heart diseases. Due to the slow velocity of shunt flow, ASD has a negligible risk for infective endocarditis (IE). However, intravenous drug abuse (IVDA) is a potential cause for IE. IE remains a diagnostic and therapeutic challenge. Our case report demonstrates the atypical presentation of IE in an ASD patient. The diagnosis was made on the basis of modified Duke criteria, and blood cultures were found out to be positive for methicillin-resistant Staphylococcus aureus (MRSA)...
April 15, 2018: Curēus
Michael Weidenbach, Bardo Wannenmacher, Christian Paech, Robert Wagner
Congenital diveticula and aneurysm of the heart are rare and most often located at the apex of the left ventricle. They pose a significant risk for cardiac failure and arrhythmias. In contrast, nonapical diverticula of the right ventricle (RV) have a much more benign course. We present a child with Trisomy 21, atrioventricular septal defect, and large nonapical diverticulum of the RV that was neither addressed during surgery nor needed any medical treatment during 1-year follow-up.
May 2018: Annals of Pediatric Cardiology
Ryan A Moore, William Jack Wallen, Kyle W Riggs, David Ls Morales
Better anatomical understanding and conceptualization of complex congenital heart defects using three-dimensional (3D) printing may improve surgical planning, especially in rare defects. In this report, we utilized 3D printing to delineate the exact cardiac anatomy of a neonate with an aortopulmonary window associated with interrupted aortic arch to devise a novel approach to the repair.
May 2018: Annals of Pediatric Cardiology
Surasak Puvabanditsin, Vidya Puthenpura, Seyni Gueye-Ndiaye, Michele Takyi, Adaora Madubuko, Lauren Walzer, Rajeev Mehta
We report a term female infant with congenital heart block and total anomalous of pulmonary venous return. The results of single nucleotide polymorphism oligonucleotide microarray analysis showed an interstitial duplication of approximately 818 Kb, which involved 11 genes, including the entire LAMB3 gene which is known to associate with cardiac conduction defect. Our report adds to the collective knowledge that the cardiac conduction defect is a clinical feature of chromosome 1q32.2 duplication.
May 2018: Annals of Pediatric Cardiology
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