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Congenital defects

M Schneider, I Schmeh, A Fruth, C Whybra-Trümpler, E Mildenberger
Monozygotic twins were previously regarded as "identical". By now an increasing number of case reports of monozygotic but discordant twins have been reported, and therefore discordance between monozygotic twins is being investigated intensively. We report a case of female preterm monozygotic twins who were discordant for fetal megacystis due to cloacal dysgenesis. Pregnancy was achieved after intracytoplasmatic sperm injection and transfer of 2 embryos. By the first trimester fetal megacystis with consecutive oligohydramnios and hypoplasia of the lungs was diagnosed...
October 2016: Zeitschrift Für Geburtshilfe und Neonatologie
Carolin A Boecking, Eleanor A Drey, Jennifer L Kerns, Walter E Finkbeiner
CONTEXT: -Despite increased use of dilation and evacuation in the setting of fetuses with developmental anomalies, the pathology examination of fragmented specimens obtained by this technique has been understudied. OBJECTIVES: -To correlate pathologic findings in second-trimester fetal dilation and evacuation specimens with prenatal diagnoses established through ultrasound and/or chromosome studies to determine the value of pathology examination for supplementing or correcting clinical diagnoses...
October 20, 2016: Archives of Pathology & Laboratory Medicine
Mark O'Driscoll
Accurate and efficient replication of the human genome occurs in the context of an array of constitutional barriers including regional topological constraints imposed by chromatin architecture and processes such as transcription, catenation of the helical polymer and spontaneously generated DNA lesions including base modifications and strand breaks. DNA replication is fundamentally important for tissue development and homeostasis; differentiation programmes are intimately linked with stem cell division. Unsurprisingly, impairments of the DNA replication machinery can have catastrophic consequences for genome stability and cell division...
October 18, 2016: Journal of Pathology
Anne Rochtus, Raf Winand, Griet Laenen, Elise Vangeel, Benedetta Izzi, Christine Wittevrongel, Yves Moreau, Carla Verpoorten, Katrien Jansen, Chris Van Geet, Kathleen Freson
BACKGROUND: Neural tube defects (NTDs) are severe congenital malformations that arise from failure of neurulation during early embryonic development. The molecular basis underlying most human NTDs still remains largely unknown. Based on the hypothesis that folic acid prevents NTDs by stimulating methylation reactions, DNA methylation changes could play a role in NTDs. We performed a methylome analysis for patients with myelomeningocele (MMC). Using a candidate CpG analysis for HOX genes, a significant association between HOXB7 hypomethylation and MMC was found...
2016: Clinical Epigenetics
Xiaojing Qiao, Yahui Liu, Peiqiang Li, Zhongzhong Chen, Huili Li, Xueyan Yang, Richard H Finnell, Zhangmin Yang, Ting Zhang, Bin Qiao, Yufang Zheng, Hongyan Wang
The planar cell polarity (PCP) pathway is critical for proper embryonic development of the neural tube and heart. Mutations in these genes have previously been implicated in the pathogenesis of neural tube defects (NTDs), but not in congenital heart defects (CHDs) in humans. We systematically identified the mutation patterns of CELSR1-3 , one family of the core PCP genes, in human cohorts composed of 352 NTD cases, 412 CHD cases, and matched controls. A total of 72 disease-specific rare novel coding mutations were identified, of which 37 were identified in CHD cases, and 36 were identified in NTD patients...
October 18, 2016: Clinical Science (1979-)
Nathan R Tucker, Saagar Mahida, Jiangchuan Ye, Elizabeth J Abraham, Julie A Mina, Victoria A Parsons, Michael A McLellan, Marisa A Shea, Alan Hanley, Emelia J Benjamin, David J Milan, Honghuang Lin, Patrick T Ellinor
BACKGROUND: The genetic basis of atrial fibrillation (AF) and congenital heart disease remains incompletely understood. OBJECTIVE: We sought to determine the causative mutation in a family with AF, atrial septal and ventricular septal defects. METHODS: We evaluated a pedigree with 16 family members, one with an atrial septal defect, one with a ventricular septal defect and three with AF; we performed whole exome sequencing in three affected family members...
October 15, 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Hamid Karimi, Seyed-Abolhassan Emami, Mohammad-Kazem Olad-Gubad
BACKGROUND: Repair of total human ear loss or congenital lack of ears is one of the challenging issues in plastic and reconstructive surgery. OBJECTIVE: The aim of the present study was 3D reconstruction of the human ear with cadaveric ear cartilages seeded with human mesenchymal stem cells. METHOD: We used cadaveric ear cartilages with preserved perichondrium. The samples were divided into 2 groups: group A (cartilage alone) and group B (cartilage seeded with a mixture of fibrin powder and mesenchymal stem cell [1,000,000 cells/cm] used and implanted in back of 10 athymic rats)...
October 14, 2016: Journal of Craniofacial Surgery
Rohit Bhoil, Shikha Sood, Sabina Bhoil, Anshul Chamail, R G Sood
Left coronary artery compression syndrome is an uncommon entity and characterized by compression of the LMCA in-between the aorta and an enlarged main pulmonary arterial trunk. It is usually associated with a congenital cardiac defect. Cardiac 64-slice MDCT provides a non-invasive and an accurate method for assessing the degree of dynamic LMCA compression throughout the cardiac cycle, its angulation relative to the left sinus of Valsalva and depiction of pulmonary pathology, making it a valuable tool in the workup of patients suspected of left coronary artery compression...
October 18, 2016: Acute Cardiac Care
Fabio de Araujo Motta, Libera Maria Dalla-Costa, Marisol Dominguez Muro, Andrea Lenzi, Gledson Luiz Picharski, Marion Burger
BACKGROUND: Candida species are the primary cause of invasive fungal infection in hospitalized children. There are few data on risk factors for postoperative candidemia in pediatric patients with congenital heart defects. This study aimed to identify risk factors for candidemia in patients with congenital heart defects who underwent cardiac surgery. METHODS: This was a case-control study conducted in patients admitted to a pediatric cardiology intensive care unit from January 2006 to December 2013...
November 2016: Pediatric Infectious Disease Journal
Mohammad Jafarian, Nima Dehghani, Shahin Shams, Mohammad Esmaeelinejad, Farzad Aghdashi
Arteriovenous malformations are uncommon congenital disorders in vascular development. They frequently involve craniofacial structures and result in a morphogenic abnormality with ominous arteriovenous shunting. We present a huge AVM of the upper lip in an 18-year-old patient who was successfully treated by the combination method of presurgical endovascular embolization and complete resection of the lesion. Subsequent surgical defect in upper lip, which involved more than two-third of the lip length, was reconstructed via Webster's modification of cheek advancement flap...
September 2016: Journal of Maxillofacial and Oral Surgery
Bin Zhang, Jinzhu Zhao, Rong Yang, Zhengmin Qian, Shengwen Liang, Bryan A Bassig, Yiming Zhang, Ke Hu, Shunqing Xu, Guanghui Dong, Tongzhang Zheng, Shaoping Yang
The objective of this study was to evaluate whether high levels of maternal exposure to O3, SO2, NO2, CO are related to increased risk of congenital heart defects (CHDs) in Wuhan, China. The study included mothers living in the central districts of Wuhan during pregnancy over the two-year period from June 10, 2011 to June 9, 2013. For each study participant, we assigned 1-month averages of O3, SO2, NO2 and CO exposure based on measurements obtained from the nearest exposure monitor to the living residence of mothers during their early pregnancy period...
October 18, 2016: Scientific Reports
Keiko Shimojima, Yumiko Ondo, Mayumi Matsufuji, Nozomi Sano, Hisashi Tsuru, Tatsuki Oyoshi, Nayuta Higa, Hiroshi Tokimura, Kazunori Arita, Toshiyuki Yamamoto
A female patient presented with developmental delay, distinctive facial features, and congenital anomalies, including a heart defect and premature lambdoid synostosis. The patient showed a paternally inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving the mitogen-activated protein kinase kinase 2 gene (MAP2K2), in which mutations cause the cardio-facio-cutaneous (CFC) syndrome. Reports of patients with overlapping 19p13.3 microdeletions of this region describe similar clinical manifestations including distinctive facial features: prominent forehead, horizontal/down-slanting palpebral fissures, long midface, pointed chin/angular jaw, sparse eyebrows, and underdeveloped cheekbones...
October 14, 2016: European Journal of Medical Genetics
Susanne Grond, Thomas O Eichmann, Sandrine Dubrac, Dagmar Kolb, Matthias Schmuth, Judith Fischer, Debra Crumrine, Peter M Elias, Guenter Haemmerle, Rudolf Zechner, Achim Lass, Franz P W Radner
Mutations in PNPLA1 (Patatin-like phospholipase domain-containing 1) have been identified as causative for autosomal recessive congenital ichthyosis in humans and dogs. So far, the underlying molecular mechanisms are unknown. In this study, we generated and characterized PNPLA1-deficient mice and found that PNPLA1 is crucial for epidermal sphingolipid synthesis. The absence of functional PNPLA1 in mice impaired the generation of omega-O-acylceramides and led to an accumulation of non-esterified omega-hydroxy-ceramides...
October 14, 2016: Journal of Investigative Dermatology
Ricardo Sol Melgar, Daniela Gorduza, Delphine Demède, Pierre Mouriquand
OBJECTIVE: The aim was to describe the clinical presentation and the surgical management of penile epispadias associated with a buried penis in five children. PATIENTS AND METHODS: This is a 5-year retrospective review of patients presenting with a buried penis, a congenital defect of the penile skin shaft associated with an unretractable foreskin for whom a penile epispadias was found at the time of surgery. All had undergone surgery combining a Cantwell-Ransley procedure and refashioning of the penile skin following the authors' technique...
September 18, 2016: Journal of Pediatric Urology
Sudip Dutta Baruah, Ashutosh Marwah, Bharat Dalvi, Rajesh Sharma
Successful repair of congenitally corrected transposition with ventricular septal defect and pulmonary stenosis presenting with heart failure in the fifth decade of life is described. This is the oldest patient to undergo this surgery, as per existing literature.
September 2016: Indian Heart Journal
Jagdish C Mohan, Vishwas Mohan, Madhu Shukla, Arvind Sethi
Hypoplastic right heart syndrome is a rare cyanotic congenital heart disease with under-development of the right ventricle, tricuspid, and pulmonary valves leading to right-to-left shunting of the blood through inter-atrial septal defect. Perinatal mortality is high with very few patients surviving to adulthood without corrective surgery. This report describes a 26-year-old young woman, who had recurrent abortions and stillbirths and detected to have marked cyanosis with hypoplastic right heart, sub-arterial ventricular septal defect, absent pulmonary valve, non-compaction of the left ventricle, and bicuspid aortic valve with aortic regurgitation...
September 2016: Indian Heart Journal
Jagdish C Mohan, Madhu Shukla, Vishwas Mohan, Arvind Sethi
Parachute mitral valve and Pacman heart (incomplete muscular ventricular septal defect) are rare congenital deformities usually reported in infants and children. Very few adult patients with these anomalies are reported but the association of the two has not been described. This report describes a 56-year-old male with exertional dyspnea who was detected to have moderately severe mitral regurgitation and mitral stenosis. Typical parachute deformity of the mitral valve with a reduced opening and common attachment of all the chordae to a single posteromedial papillary muscle was evident...
September 2016: Indian Heart Journal
Ahmad S Burhan, Fehmieh R Nawaya
BACKGROUND: Cleft lip and palate (CLP) anomaly is one of the most prevalent congenital defects causing disturbances of dental arch dimensions. This study aimed at investigating differences in these dimensions between preschool children with cleft lip/palate and a matched control group representing healthy individuals with normal occlusion (NO). MATERIALS AND METHODS: The sample of this cross-sectional analytical study consisted of 108 plaster models of children aged from 4 to 5...
September 2016: Journal of the Egyptian Public Health Association
Ana L Neves, Tiago Henriques-Coelho, Adelino Leite-Moreira, José C Areias
OBJECTIVE: The aim of this article is to evaluate the clinical utility of brain natriuretic peptide in pediatric patients, examining the diagnostic value, management, and prognostic relevance, by critical assessment of the literature. DATA SOURCES: In December 2015, a literature search was performed (PubMed access to MEDLINE citations; and included these Medical Subject Headings and text terms for the key words: "brain natriuretic peptide," "amino-terminal pro-brain natriuretic peptide," "children," "neonate/s," "newborn/s," "infant/s," and "echocardiography...
September 30, 2016: Pediatric Critical Care Medicine
Anna Maria Pinto, Valentina Imperatore, Laura Bianciardi, Margherita Baldassarri, Paolo Galluzzi, Simone Furini, Giovanni Centini, Alessandra Renieri, Francesca Mari
Orofacial clefts are the most common congenital craniofacial anomalies and can occur as an isolated defect or be associated with other anomalies such as posterior fossa anomalies as a part of several genetic syndromes. We report two consecutive voluntary pregnancy interruptions in a nonconsanguineous couple following the fetal ultrasound finding of cleft lip and palate and posterior fossa anomalies confirmed by means of post-termination examination on the second fetus. The quantitative fluorescent PCR, the karyotype, and the comparative genomic hybridization-array analysis after amniocentesis were normal...
October 4, 2016: Clinical Dysmorphology
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