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Congenital defects

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https://www.readbyqxmd.com/read/29684186/protein-geranylgeranylation-a-possible-new-player-in-congenital-heart-defects
#1
Helen M Phillips
No abstract text is available yet for this article.
April 19, 2018: Cardiovascular Research
https://www.readbyqxmd.com/read/29683008/first-trimester-combined-screening-biochemistry-in-detection-of-congenital-heart-defects
#2
Julia Alanen, Teemu Korpimaki, Heikki Kouru, Mikko Sairanen, Markku Leskinen, Mika Gissler, Markku Ryynanen, Jaana Nevalainen
OBJECTIVE: To evaluate the performance of first trimester biochemical markers, pregnancy-associated plasma protein-A (PAPP-A), free beta human chorionic gonadotropin (fβ-hCG), and nuchal translucency (NT) in detection of severe congenital heart defects (CHDs). METHODS: During the study period from 1 January 2008 to 31 December 2011, biochemical markers and NT were measured in 31,144 women as part of voluntary first trimester screening program for Down's syndrome in Northern Finland...
April 22, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29681618/clinical-utility-gene-card-for-galnt3-defective-congenital-disorder-of-glycosylation
#3
Jaak Jaeken, Dirk J Lefeber, Gert Matthijs
No abstract text is available yet for this article.
April 23, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29681196/congenital-heart-defects-according-to-the-types-of-the-risk-factors-a-single-center-experience
#4
Jan Pavlicek, Eva Klaskova, Martin Prochazka, Erika Dolezalkova, David Matura, Richard Spacek, Ondrej Simetka, Tomas Gruszka, Slavka Polanska, Marian Kacerovsky
OBJECTIVE: The main aim of this study was to compare the prevalence of congenital heart defects (CHDs) between pregnant women with and those without the risk factors. The secondary aim was to determine the influence of the specific risk factors, divided into subgroups, on the development of the CHD. METHODS: The presented results were obtained over the course of a 15-year study between years 2002 and 2016. Fetal echocardiography was performed as a planned screening examination during the second trimester of gravidity...
April 22, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29681176/-genetic-heterogeneity-and-complexity-of-congenital-heart-defects
#5
Dóra Nagy, Márta Széll
Congenital heart defects are the most common birth defects, they account for approximately one third of all cases. They are clinically heterogeneous, vary widely in severity, treatability and prognosis and may occur as part of multiple developmental disorders, such as chromosome aberrations, microdeletion syndromes and monogenic diseases, or as isolated defects. Syndromic forms account for 25-40%, isolated forms for 60-75% of all cases. With conventional cytogenetic and next-generation molecular genetic methods, numerous genetic alterations have been identified in evolutionarily highly conserved genes of transcriptional regulators, signaling molecules and structural proteins, which are critical to normal cardiogenesis, mostly in cases with syndromic congenital heart defects...
April 2018: Orvosi Hetilap
https://www.readbyqxmd.com/read/29679838/medico-legal-investigation-in-an-explicable-case-of-congenital-central-hypoventilation-syndrome-due-to-a-rare-variant-of-the-phox2b-gene
#6
Francesco Ventura, Rosario Barranco, Tiziana Bachetti, Paolo Nozza, Ezio Fulcheri, Antonella Palmieri, Isabella Ceccherini
The heterozygous PHOX2B gene mutation is related to congenital central hypoventilation syndrome (CCHS). It is characterized by defective autonomous nervous system development leading to inadequate breathing response to hypoxia and hypercapnia, leading to hypoventilation especially during non-REM sleep, but also during waking in the more severe cases. Herein we report a case of sudden death in a 28-day-old child. The mother reported the infant was found lying on her own bed in the prone position. The infant was wearing a romper and lying in her crib without any blanket or other objects...
April 17, 2018: Journal of Forensic and Legal Medicine
https://www.readbyqxmd.com/read/29679560/developmental-origin-and-morphogenesis-of-the-diaphragm-an-essential-mammalian-muscle
#7
Elizabeth M Sefton, Mirialys Gallardo, Gabrielle Kardon
The diaphragm is a mammalian skeletal muscle essential for respiration and for separating the thoracic and abdominal cavities. Development of the diaphragm requires the coordinated development of muscle, muscle connective tissue, tendon, nerves, and vasculature that derive from different embryonic sources. However, defects in diaphragm development are common and the cause of an often deadly birth defect, Congenital Diaphragmatic Hernia (CDH). Here we comprehensively describe the normal developmental origin and complex spatial-temporal relationship between the different developing tissues to form a functional diaphragm using a developmental series of mouse embryos genetically and immunofluorescently labeled and analyzed in whole mount...
April 18, 2018: Developmental Biology
https://www.readbyqxmd.com/read/29676329/optic-nerve-aplasia-a-case-series
#8
K Samyukta Sadasivan, Neelam Pawar, Meenakshi Ravindran, Ramakrishnan Rengappa
Optic nerve aplasia (ONA) is a congenital optic nerve anomaly characterized by the absence of optic nerve head, retinal blood vessels, retinal ganglion cells, and optic nerve fibers in a malformed eye. Clinically, the condition presents with the absence of perception of light, afferent pupillary defect and a fundus appearance of absent optic nerve head, and retinal vessels with associated ocular and nonocular abnormalities. Systemic anomalies have been reported with bilateral ONA, whereas unilateral ONA is seen in otherwise healthy individuals...
May 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29675677/quantitative-anatomy-of-the-ilium-s-primary-ossification-center-in-the-human-fetus
#9
Mariusz Baumgart, Marcin Wiśniewski, Magdalena Grzonkowska, Mateusz Badura, Maciej Biernacki, Zygmunt Siedlecki, Aleksandra Szpinda, Michał Szpinda, Katarzyna Pawlak-Osińska
PURPOSE: An understanding of the development of the ilium's primary ossification center may be useful in both determining the fetal stage and maturity, and for detecting congenital disorders. This study was performed to quantitatively examine the ilium's primary ossification center with respect to its linear, planar and volumetric parameters. MATERIALS AND METHODS: Using methods of CT, digital-image analysis and statistics, the size of the ilium's primary ossification center in 42 spontaneously aborted human fetuses of crown-rump length (CRL) ranged from 130 to 265 mm (aged 18-30 weeks) was studied...
April 19, 2018: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/29674414/volumetric-brain-mri-study-in-fetuses-with-congenital-heart-disease
#10
H Olshaker, R Ber, D Hoffman, E Derazne, R Achiron, E Katorza
BACKGROUND AND PURPOSE: It is well-established that a high prevalence of infants with congenital heart defects surviving to childhood have neurodevelopmental abnormalities. The etiology is not clear. In this study, we aimed to find prenatal neuroanatomic changes in fetuses with congenital heart disease to better understand the pathophysiology behind these sequelae. MATERIALS AND METHODS: A retrospective study of 46 fetal brain MR imaging scans was performed at a tertiary medical center during a 4-year period...
April 19, 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29674119/nmnat1-e257k-variant-associated-with-leber-congenital-amaurosis-lca9-causes-a-mild-retinal-degeneration-phenotype
#11
Aiden Eblimit, Smriti Agrawal Zaneveld, Wei Liu, Kandace Thomas, Keqing Wang, Yumei Li, Graeme Mardon, Rui Chen
NMNAT1 (nicotinamide mononucleotide adenylyltransferase 1) encodes a rate-limiting enzyme that catalyzes the biosynthesis of NAD+ and plays a role in neuroprotection. Mutations in NMNAT1 have been identified to cause a recessive, non-syndromic early form of blindness genetically defined as Leber Congenital Amaurosis 9 (LCA9). One of the most common alleles reported so far in NMNAT1 is the c.769G > A (E257K) missense mutation, which occurs in 70% of all LCA9 cases. However, given its relatively high population frequency and the observation of individuals with homozygous E257K variant without phenotype, the pathogenicity of this allele has been questioned...
April 16, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29673853/biventricular-dyssynchrony-on-cardiac-magnetic-resonance-imaging-and-its-correlation-with-myocardial-deformation-ventricular-function-and-objective-exercise-capacity-in-patients-with-repaired-tetralogy-of-fallot
#12
Pantelis Kalaitzidis, Stefan Orwat, Aleksander Kempny, Radke Robert, Brigitte Peters, Samir Sarikouch, Philipp Beerbaum, Helmut Baumgartner, Gerhard-Paul Diller
BACKGROUND: Electrical dyssynchrony and prolonged QRS duration are common in patients with repaired tetralogy of Fallot (ToF). It has been linked to increased risk of sudden cardiac death and right ventricular (RV) dysfunction. We investigated myocardial dyssynchrony using cardiac magnetic resonance imaging (CMR) and feature tracking analysis (FT) in this setting and compared it to myocardial deformation, conventional parameters of ventricular dysfunction and clinical parameters. METHODS AND RESULTS: Patients underwent standardized CMR investigations as part of a nationwide study...
April 12, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29673759/alport-syndrome-and-pierson-syndrome-diseases-of-the-glomerular-basement-membrane
#13
REVIEW
Steven D Funk, Meei-Hua Lin, Jeffrey H Miner
The glomerular basement membrane (GBM) is an important component of the kidney's glomerular filtration barrier. Like all basement membranes, the GBM contains type IV collagen, laminin, nidogen, and heparan sulfate proteoglycan. It is flanked by the podocytes and glomerular endothelial cells that both synthesize it and adhere to it. Mutations that affect the GBM's collagen α3α4α5(IV) components cause Alport syndrome (kidney disease with variable ear and eye defects) and its variants, including thin basement membrane nephropathy...
April 16, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29672785/-tissue-engineering-of-adipose-tissue-with-biodegradable-biomaterials-for-soft-tissue-reconstruction
#14
Silvan Klein, Thiha Aung, Robert Michael Haas, Fabian Medved, Stefan M Schiller, Oliver Felthaus, Jürgen H Dolderer
Soft tissue defects resulting from injuries, tumor resection, congenital anomalies or chronic wounds pose a great challenge to reconstructive surgery. The current gold standard in therapy of such defects is the tissue transplantation in terms of free or local flaps. Unfortunately, donor site morbidity remains a considerable risk of flap surgery. Therefore, tissue engineering of autologous vascularized long term stable adipose tissue constructs could enrich the therapeutic possibilities of soft tissue defects...
April 2018: Handchirurgie, Mikrochirurgie, Plastische Chirurgie
https://www.readbyqxmd.com/read/29671282/interventional-cardiology-for-congenital-heart-disease
#15
REVIEW
Damien Kenny
Congenital heart interventions are now replacing surgical palliation and correction in an evolving number of congenital heart defects. Right ventricular outflow tract and ductus arteriosus stenting have demonstrated favorable outcomes compared to surgical systemic to pulmonary artery shunting, and it is likely surgical pulmonary valve replacement will become an uncommon procedure within the next decade, mirroring current practices in the treatment of atrial septal defects. Challenges remain, including the lack of device design focused on smaller infants and the inevitable consequences of somatic growth...
March 29, 2018: Korean Circulation Journal
https://www.readbyqxmd.com/read/29670578/gata4-variants-in-individuals-with-a-46-xy-disorder-of-sex-development-dsd-may-or-may-not-be-associated-with-cardiac-defects-depending-on-second-hits-in-other-dsd-genes
#16
Idoia Martinez de LaPiscina, Carmen de Mingo, Stefan Riedl, Amaia Rodriguez, Amit V Pandey, Mónica Fernández-Cancio, Nuria Camats, Andrew Sinclair, Luis Castaño, Laura Audi, Christa E Flück
Disorders of sex development (DSD) consist of a wide range of conditions involving numerous genes. Nevertheless, about half of 46,XY individuals remain genetically unsolved. GATA4 gene variants, mainly related to congenital heart defects (CHD), have also been recently associated with 46,XY DSD. In this study, we characterized three individuals presenting with 46,XY DSD with or without CHD and GATA4 variants in order to understand the phenotypical variability. We studied one patient presenting CHD and 46,XY gonadal dysgenesis, and two patients with a history of genetically unsolved 46,XY DSD, also known as male primary hypogonadism...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29668547/trilineage-hematopoiesis-induced-by-low-dose-eltrombopag-in-a-patient-with-fanconi-anemia-can-be-used-as-a-bridge-to-hematopoietic-stem-cell-transplant
#17
Ashish Gupta, Rasmi Palassery, Howard Meyerson, Sanjay Ahuja, Yousif Matloub
Fanconi anemia (FA) is an autosomal recessive, progressive bone marrow failure disorder characterized by congenital defects and marked cancer predisposition. Hematopoietic stem cell transplant is the therapy of choice for FA patients with progressive pancytopenia. These patients receive multiple transfusions for cytopenias. Oxymetholone has been used with variable success to improve cytopenias. Eltrombopag has been shown to induce bilineage or trilineage hematopoiesis in aplastic anemia and patients with myelodysplastic marrow...
April 17, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29666392/synthetic-9-cis-beta-carotene-inhibits-photoreceptor-degeneration-in-cultures-of-eye-cups-from-rpe65rd12-mouse-model-of-retinoid-cycle-defect
#18
Ifat Sher, Adi Tzameret, Sara Peri-Chen, Victoria Edelshtain, Michael Ioffe, Alon Sayer, Ludmila Buzhansky, Ehud Gazit, Ygal Rotenstreich
The retinoid cycle enzymes regenerate the visual chromophore 11-cis retinal to enable vision. Mutations in the genes encoding the proteins of the retinoid cycle are the leading cause for recessively inherited retinal dystrophies such as retinitis pigmentosa, Leber congenital amaurosis, congenital cone-rod dystrophy and fundus albipunctatus. Currently there is no treatment for these blinding diseases. In previous studies we demonstrated that oral treatment with the 9-cis-β-carotene rich Dunaliella Bardawil algae powder significantly improved visual and retinal functions in patients with retinitis pigmentosa and fundus albipunctatus...
April 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29666350/case-report-of-newborn-with-de-novo-partial-trisomy-2q31-2-37-3-and-monosomy-9p24-3
#19
Maurizia Colangelo, Melissa Alfonsi, Chiara Palka, Eleonora Zio Zio, Silvana Di Renzo, Paolo Guanciali-Franchi, Giandomenico Palka
We describe a newborn female with a de novo duplication of chromosomes 2q31.2 and 2q37.3, and a de novo monosomy 9p24.3. The clinical findings of this patient include congenital heart defects, dysmorphic facial features, hypotonia, feeding difficulties and microcephaly. Ultrasonographic prenatal findings were negative for foetal malformations. Only a mild pyelectasis was reported. This is the first report of molecular cytogenetic characterization of a partial trisomy 2q31.2-37.3 with monosomy 9p24.3.
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29666339/phenotypic-characterization-of-derivative-22-syndrome-case-series-and-review
#20
Deepti Saxena, Priyanka Srivastava, Moni Tuteja, Kausik Mandal, Shubha R Phadke
Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males. In 99% of the cases, one of the parents is a carrier of balanced translocation between chromosomes 11 and 22. It occurs due to malsegregation of the gametes with 3:1 segregation. In this case series, we describe four patients with diverse manifestations of this condition...
March 2018: Journal of Genetics
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