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Congenital defects

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https://www.readbyqxmd.com/read/28645012/associations-between-toxic-and-essential-trace-elements-in-maternal-blood-and-fetal-congenital-heart-defects
#1
Yanqiu Ou, Michael S Bloom, Zhiqiang Nie, Fengzhen Han, Jinzhuang Mai, Jimei Chen, Shao Lin, Xiaoqing Liu, Jian Zhuang
Prenatal exposure to toxic trace elements, including heavy metals, is an important public health concern. Few studies have assessed if individual and multiple trace elements simultaneously affect cardiac development. The current study evaluated the association between maternal blood lead (Pb), cadmium (Cd), chromium (Cr), copper (Cu), mercury (Hg), and selenium (Se) levels and congenital heart defects (CHDs) in offspring. This hospital-based case-control study included 112 case and 107 control infants. Maternal peripheral blood draw was made during gestational weeks 17-40 and used to determine trace element levels by inductively coupled plasma mass spectrometry...
June 20, 2017: Environment International
https://www.readbyqxmd.com/read/28643274/an-unexplained-congenital-disorder-of-glycosylation-ii-in-a-child-with-neurohepatic-involvement-hypercholesterolemia-and-hypoceruloplasminemia
#2
Pier Luigi Calvo, Marco Spada, Ivana Rabbone, Michele Pinon, Francesco Porta, Fabio Cisarò, Stefania Reggiani, Angelo B Cefalù, Luisella Sturiale, Domenico Garozzo, Dirk J Lefeber, Jaak Jaeken
We report on a 12-year-old adopted boy with psychomotor disability, absence seizures, and normal brain MRI. He showed increased (but initially, at 5 months, normal) serum cholesterol, increased alkaline phosphatases, transiently increased transaminases and hypoceruloplasminemia with normal serum and urinary copper. Blood levels of immunoglobulins, haptoglobin, antithrombin, and factor XI were normal. A type 2 serum transferrin isoelectrofocusing and hypoglycosylation of apoCIII pointed to a combined N- and O-glycosylation defect...
June 23, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28643081/distraction-osteogenesis-reconstruction-of-large-segmental-bone-defects-after-primary-tumor-resection-pitfalls-and-benefits
#3
REVIEW
Jan Lesensky, Daniel E Prince
Successful cure is achieved in almost 70% of patients with primary bone sarcomas with currently available therapies. Some soft tissue sarcomas require wide bone resection in order to achieve appropriate margins for cure of disease, and patients undergoing these procedures need durable reconstruction. Biological reconstruction has been shown to provide patients with superior long-term results over other alternatives. Distraction osteogenesis is well studied in the correction of deformities as well as in addressing some congenital musculoskeletal pathologies...
June 22, 2017: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
https://www.readbyqxmd.com/read/28641756/regenerative-medicine-solutions-in-congenital-diaphragmatic-hernia
#4
Paolo De Coppi, Jan Deprest
Congenital diaphragmatic hernia (CDH) remains a major challenge and associated mortality is still significant. Patients have benefited from current therapeutic options, but most severe cases are still associated to poor outcome. Regenerative medicine is emerging as a valid option in many diseases and clinical trials are currently happening for various conditions in children and adults. We report here the advancement in the field which will help both in the understanding of further CDH development and in offering new treatment options for the difficult situations such as repair of large diaphragmatic defects and lung hypoplasia...
June 2017: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/28641752/congenital-diaphragmatic-hernia-associated-pulmonary-hypertension
#5
Matthew T Harting
Congenital diaphragmatic hernia (CDH) is a complex entity wherein a diaphragmatic defect allows intrathoracic herniation of intra-abdominal contents and both pulmonary parenchymal and vascular development are stifled. Pulmonary pathology and pathophysiology, including pulmonary hypoplasia and pulmonary hypertension, are hallmarks of CDH and are associated with disease severity. Pulmonary hypertension (PH) is sustained, supranormal pulmonary arterial pressure, and among patients with CDH (CDH-PH), is driven by hypoplastic pulmonary vasculature, including alterations at the molecular, cellular, and tissue levels, along with pathophysiologic pulmonary vasoreactivity...
June 2017: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/28641748/abnormal-lung-development-in-congenital-diaphragmatic-hernia
#6
Dustin Ameis, Naghmeh Khoshgoo, Richard Keijzer
The outcomes of patients diagnosed with congenital diaphragmatic hernia (CDH) have recently improved. However, mortality and morbidity remain high, and this is primarily caused by the abnormal lung development resulting in pulmonary hypoplasia and persistent pulmonary hypertension. The pathogenesis of CDH is poorly understood, despite the identification of certain candidate genes disrupting normal diaphragm and lung morphogenesis in animal models of CDH. Defects within the lung mesenchyme and interstitium contribute to disturbed distal lung development...
June 2017: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/28641300/prenatal-diagnosis-of-dextrocardia-with-complex-congenital-heart-disease-using-fetal-intelligent-navigation-echocardiography-fine-and-a-literature-review
#7
Lami Yeo, Suchaya Luewan, Dor Markush, Navleen Gill, Roberto Romero
Fetal dextrocardia is a type of cardiac malposition where the major axis from base to apex points to the right side. This condition is usually associated with a wide spectrum of complex cardiac defects. As a result, dextrocardia is conceptually difficult to understand and diagnose on prenatal ultrasound. The advantage of four-dimensional sonography with spatiotemporal image correlation (STIC) is that this modality can facilitate fetal cardiac examination. A novel method known as fetal intelligent navigation echocardiography (FINE) allows automatic generation of nine standard fetal echocardiography views in normal hearts by applying intelligent navigation technology to STIC volume datasets...
June 23, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28639450/-bilateral-congenital-multiple-pigmented-vitreous-cysts-in-a%C3%A2-three-year-old-girl-ten-years-follow-up
#8
J Štěpánková, M Hósová, D Dotřelová
The authors present a case report of a three-year-old female patient with bilateral multiple anterior vitreous cysts. During examination for intermittent esotropia of the right eye was diagnosed not only hypermetropia, astigmatism and anisometropia, but also pigmented changes in peripheral retrolental space of both eyes. Clinical examination under general anaesthesia revealed bilateral multiple pigmented immobile vitreous cysts. There were five almost spherical, translucent, but slightly pigmented cysts on its cover on the right eye and four similar on the left, but visible only with dilated pupils...
2017: Ceská a Slovenská Oftalmologie
https://www.readbyqxmd.com/read/28638668/severe-short-stature-in-an-adolescent-male-with-prader-willi-syndrome-and-congenital-adrenal-hyperplasia-a-therapeutic-conundrum
#9
Meredith Wasserman, Erin M Mulvihill, Angela Ganan-Soto, Serife Uysal, Jose Bernardo Quintos
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. In this article we report a patient with simple-virilizing CAH and PWS who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28638259/global-alert-zika-virus-an-emerging-arbovirus
#10
REVIEW
Zulal Ozkurt, Esra Cinar Tanriverdi
Zika virus (ZIKV) is an arbovirus of the Flavivirus genus, and it has an envelope and a single RNA molecule. In early 2016, the World Health Organization declared ZIKV infection to be an emerging global health threat. The major transmission route of the virus to humans is Aedes mosquitoes. ZIKV can be transmitted between humans by transplacental, perinatal, and sexual routes and via blood and body fluids. ZIKV infection usually results in a mild and self-limiting disease with low-grade fever, conjunctivitis, and periorbital edema...
June 2017: Eurasian Journal of Medicine
https://www.readbyqxmd.com/read/28637627/pulmonary-arterial-resistance-and-compliance-in-preterm-infants
#11
Seigo Okada, Jun Muneuchi, Yusaku Nagatomo, Mamie Watanabe, Chiaki Iida, Hiromitsu Shirouzu, Ryohei Matsuoka, Kunitaka Joo
BACKGROUND: Preterm birth is known to be associated with an increased risk of pulmonary arterial hypertension, although how preterm birth influences pulmonary hemodynamics has not been fully understood. Pulmonary arterial resistance (Rp) and compliance (Cp) are important factors to assess the pulmonary circulation. The purpose of this study is to clarify the relationship between Rp and Cp in preterm infants. METHODS: We performed cardiac catheterization in 96 infants (50 males) with ventricular septal defect, and compared pulmonary hemodynamic parameters including Rp and Cp between preterm and full-term infants...
June 16, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28637614/classical-inherited-bone-marrow-failure-syndromes-with-high-risk-for-myelodysplastic-syndrome-and-acute-myelogenous-leukemia
#12
REVIEW
Sharon A Savage, Carlo Dufour
The inherited marrow failure syndromes (IBMFS) are a heterogeneous group of diseases characterized by failure in the production of one or more blood lineage. The clinical manifestations of the IBMFS vary according to the type and number of blood cell lines involved, including different combinations of anemia, leukopenia, and thrombocytopenia. In some IBMFS, systemic non-hematologic manifestations, including congenital malformations, mucocutaneous abnormalities, developmental delay, and other medical complications, may be present...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28637490/lipoid-congenital-adrenal-hyperplasia-by-steroidogenic-acute-regulatory-protein-star-gene-mutation-in-an-italian-infant-an-uncommon-cause-of-adrenal-insufficiency
#13
Carla Bizzarri, Elisa Pisaneschi, Mafalda Mucciolo, Stefania Pedicelli, Daniela Galeazzi, Antonio Novelli, Marco Cappa
BACKGROUND: Lipoid congenital adrenal hyperplasia (CAH) (OMIM n. 201710) is the most severe form of congenital adrenal hyperplasia. It is characterized by severe adrenal and gonadal steroidogenesis impairment due to a defect in the conversion of cholesterol to pregnenolone. Affected infants experience salt loss, but glucocorticoid and mineralocorticoid replacement therapy enables long-term survival. Classic lipoid congenital adrenal hyperplasia is relatively common in Japan and Korea but extremely rare in Caucasian populations...
June 20, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28634705/how-does-pregnancy-affect-the-patients-with-pituitary-adenomas-a-study-on-113-pregnancies-from-turkey
#14
Z Karaca, S Yarman, I Ozbas, P Kadioglu, M Akturk, F Kilicli, H S Dokmetas, R Colak, H Atmaca, Z Canturk, Y Altuntas, N Ozbey, N Hatipoglu, F Tanriverdi, K Unluhizarci, F Kelestimur
OBJECTIVE: Data regarding pregnancies in relation to pituitary tumors are limited. The effects of pregnancy on pituitary adenomas and the effects of adenoma itself (hormonal activity, mass effects and pituitary insufficiency) and/or treatment on the ongoing gestation and developing fetus were evaluated. METHODS: The study was a retrospective study. A questionnaire involving questions regarding medical history before index gestation, history of related pregnancy, result of index gestation and postpartum follow-up of the patients was filled by the investigator in one of the eight Referral Endocrinology Centers from Turkey...
June 20, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28631675/-the-morphological-and-clinical-aspects-of-the-curvature-of-the-nasal-septum
#15
V N Krasnozhen, D A Shcherbakov, A V Volodeev, L A Musina, Yu A Garskova
The curvature of the nasal septum (NS) is one of the most widespread deformations of the facial skeleton. The objective of the present study was to substantiate the principles of and develop the rationale for the surgical correction and conservative treatment of this condition based on the morphological features of various types of deflection of the nasal septum. We have undertaken the morphological analysis of the osseous and cartilaginous structures determining the type and the shape of the curvature of the nasal septum together with the clinical analysis of different morphological variants of the deflection of the nasal septum making use of the R...
2017: Vestnik Otorinolaringologii
https://www.readbyqxmd.com/read/28631094/post-translational-remodeling-of-ryanodine-receptor-induces-calcium-leak-leading-to-alzheimer-s-disease-like-pathologies-and-cognitive-deficits
#16
Alain Lacampagne, Xiaoping Liu, Steven Reiken, Renaud Bussiere, Albano C Meli, Inger Lauritzen, Andrew F Teich, Ran Zalk, Nathalie Saint, Ottavio Arancio, Charlotte Bauer, Fabrice Duprat, Clark A Briggs, Shreaya Chakroborty, Grace E Stutzmann, Michael L Shelanski, Frederic Checler, Mounia Chami, Andrew R Marks
The mechanisms underlying ryanodine receptor (RyR) dysfunction associated with Alzheimer disease (AD) are still not well understood. Here, we show that neuronal RyR2 channels undergo post-translational remodeling (PKA phosphorylation, oxidation, and nitrosylation) in brains of AD patients, and in two murine models of AD (3 × Tg-AD, APP (+/-) /PS1 (+/-)). RyR2 is depleted of calstabin2 (KFBP12.6) in the channel complex, resulting in endoplasmic reticular (ER) calcium (Ca(2+)) leak. RyR-mediated ER Ca(2+) leak activates Ca(2+)-dependent signaling pathways, contributing to AD pathogenesis...
June 19, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28630650/a-maternally-inherited-8-05%C3%A2-mb-xq21-deletion-associated-with-choroideremia-deafness-and-mental-retardation-syndrome-in-a-male-patient
#17
Siying Liang, Nan Jiang, Shuo Li, Xiaohu Jiang, Dongyi Yu
BACKGROUND: Deletions in Xq21 cause various congenital defects in males including choroideremia, deafness and mental retardation, depending on their size and gene content. Until now only a limited number of patients with Xq21 deletions has been reported. CASE PRESENTATION: Here we describe a 17-year-old male with choroideremia, deafness, and mental retardation syndrome. Using SNP arrays, an 8.05 Mb deletion in Xq21 was identified inherited from the apparently healthy mother...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28629786/-pregnancy-and-delivery-for-women-with-congenital-spinal-cord-defects-and-neurogenic-bladder
#18
Q Manach, M Dommergues, P Denys, K Loiseau, B Idiard-Chamois, E Chartier-Kastler, V Phé
INTRODUCTION: Data are scarce regarding pregnancy and delivery among women with a neurogenic bladder due to congenital spinal cord defects. OBJECTIVE: To report the obstetrical and urological outcomes of women with congenital spinal cord defects and vesico-sphincteric disorders. METHODS: A retrospective multicentric study included all consecutive women with a neurogenic bladder due to congenital spinal defects, who delivered between January 2005 and December 2014...
June 16, 2017: Progrès en Urologie
https://www.readbyqxmd.com/read/28629661/cornelia-de-lange-syndrome-congenital-heart-disease-in-149-patients
#19
Ariadna Ayerza Casas, Beatriz Puisac Uriol, María Esperanza Teresa Rodrigo, María Hernández Marcos, Feliciano J Ramos Fuentes, Juan Pie Juste
INTRODUCTION: Cornelia de Lange syndrome (CdLS) is produced by mutations in genes that encode regulatory or structural proteins of the cohesin complex. Congenital heart disease (CHD) is not a major criterion of the disease, but it affects many individuals. The objective of this study was to study the incidence and type of CHD in patients with CdLS. MATERIAL AND METHOD: Cardiological findings were evaluated in 149 patients with CdLS and their possible relationship with clinical and genetic variables...
June 16, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28628610/outcome-of-cardiac-surgery-in-patients-with-congenital-heart-disease-in-england-between-1997-and-2015
#20
Aleksander Kempny, Konstantinos Dimopoulos, Anselm Uebing, Gerhard-Paul Diller, Ulrich Rosendahl, George Belitsis, Michael A Gatzoulis, Stephen J Wort
BACKGROUND: The number of patients with congenital heart disease (CHD) is increasing worldwide and most of them will require cardiac surgery, once or more, during their lifetime. The total volume of cardiac surgery in CHD patients at a national level and the associated mortality and predictors of death associated with surgery are not known. We aimed to investigate the surgical volume and associated mortality in CHD patients in England. METHODS: Using a national hospital episode statistics database, we identified all CHD patients undergoing cardiac surgery in England between 1997 and 2015...
2017: PloS One
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