Results 61 to 70 of about 64,543 (306)

Prevalence and pattern of congenital heart disease among neonates in Gorgan, Northern Iran (2007-2008) [PDF]

, 2011
Objective: Congenital heart disease (CHD) is the most common congenital anomaly newborns. The aim of this longitudinal, hospital-based study was to evaluate the prevalence and pattern of CHD among Iranian newborns in Gorgan, Northern Iran. Methods: 11739
Golalipour, M.J., Mirfazeli, A., Nikyarspi-Sup, B., Qourbani, M., Sedehi, M.   +4 more
core  

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Frequency and pattern of Congenital Heart Defects in children with Down’s Syndrome

Gomal Journal of Medical Sciences, 2012
Background: Patients with Down’s syndrome are prone to have congenital heart defects. This study was conducted to evaluate the frequency of various congenital heart defects in children with Down’s syndrome in Khyber Pukhtunkhwa province.
Inayatullah Khan, Taj Muhammad
doaj  

Pentalogy of Cantrell : the first Maltese case with successful outcome [PDF]

, 1997
Pentalogy of Cantrell is a rare disorder which was first described by Cantrell and his colleagues in 1958. It is comprised of congenital heart disease and midline defects.
Grech, Victor E., Parascandalo, Raymond, Rees, Philip G.   +2 more
core  

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Percutaneous closure of a post-traumatic ventricular septal defect with a patent ductus arteriosus occluder

Clinics, 2012
OBJECTIVE: Ventricular septal defects resulting from post-traumatic cardiac injury are very rare. Percutaneous closure has emerged as a method for treating this disorder.
Er-Ping Xi, Jian Zhu, Shui-Bo Zhu, Gui-Lin Yin, Yong Liu, Yong-Qiang Dong, Yu Zhang, Feng Xia   +7 more
doaj   +1 more source

A simple screening method for determining knowledge of the appropriate levels of activity and risk behaviour in young people with congenital cardiac conditions [PDF]

, 2007
Objective: To assess a novel method for assessing risk and providing advice about activity to children and young people with congenital cardiac disease and their parents. Design and setting: Questionnaire survey in outpatient clinics at a tertiary centre
Kendall, L, Lewin, R, Parsons, J, Sloper, P   +3 more
core   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Pattern of Congenital Heart Disease In Children Attending Central Teaching Pediatric Hospital, Baghdad

مجله كليه طب الكندي, 2020
Background: Congenital cardiac defects have a wide spectrum of severity in infants. About 30-40% of patients with congenital cardiac defects will be symptomatic in the 1st year of life, while the diagnosis was established in 60% of patients by the 1st ...
Husam T Al-Zuhairi
doaj   +1 more source

Congestive heart failure in children with atrial septal defect

The Journal of Thoracic and Cardiovascular Surgery, 1966
Summary Congestive heart failure or severe symptoms of physical disability, growth retardation, and frequent pulmonary infections may occur in children with preoperative diagnosis limited to that of atrial septal defect. At operation these patients may be found to have additional lesions demanding operative correction.
M, Weinberg, R A, Miller, A R, Hastreiter, J G, Raffensperger, E H, Fell, H G, Bucheleres   +5 more
openaire   +2 more sources