Results 71 to 80 of about 421,652 (362)

Asuhan Keperawatan Pada An. N Dengan Gangguan Kardiovaskuler : Penyakit Jantung Bawaan Di Ruang Cempaka III RSUD Pandan Arang Boyolali [PDF]

open access: yes, 2015
Background : Infant and child mortality rate caused by Congenital Heart Disease quite high in both developed countries and developing countries (including Indonesia).
, Agus Sudaryanto, S.Kep., Ns., M.Kes   +1 more
core  

Facts and Misfacts on D‐Dimer Testing. Consensus Guidance From the Italian Society on Thrombosis and Hemostasis (SISET)

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT D‐dimer defines degradation products derived from the proteolysis mediated by plasmin on cross‐linked fibrin. The evidence‐based use of D‐dimer in some conditions has been consolidated. Currently, however, there is an entrenched prescription of D‐dimer testing to screen otherwise healthy subjects that may induce prescribing physicians to start
Armando Tripodi   +11 more
wiley   +1 more source

Retraction: Bruder, L. et al. Transcatheter Decellularized Tissue-Engineered Heart Valve (dTEHV) Grown on Polyglycolic Acid (PGA) Scaffold Coated with P4HB Shows Improved Functionality over 52 Weeks due to Polyether-Ether-Ketone (PEEK) Insert. J. Funct. Biomater. 2018, 9(4), 64

open access: yesJournal of Functional Biomaterials, 2019
Due to human error, the authors included some of the experimental data in this article [...]
Leon Bruder   +5 more
doaj   +1 more source

Clinical profile and outcome of cyanotic congenital heart disease in neonates [PDF]

open access: yes, 2008
OBJECTIVE: To determine the clinical profile and assess the outcome of all neonates diagnosed with cyanotic congenital heart disease. STUDY DESIGN: A case series. PLACE AND DURATION OF STUDY: The Aga Khan University Hospital from January 1998 to December
Atiq, Mehnaz, Humayun, Khadija N
core   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone   +13 more
wiley   +1 more source

The incidence of congenital heart disease

open access: yesJournal of the American College of Cardiology, 2002
This study was designed to determine the reasons for the variability of the incidence of congenital heart disease (CHD), estimate its true value and provide data about the incidence of specific major forms of CHD. The incidence of CHD in different studies varies from about 4/1,000 to 50/1,000 live births. The relative frequency of different major forms
Julien I. E. Hoffman, Samuel Kaplan
openaire   +3 more sources

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff   +8 more
wiley   +1 more source

Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 Genes

open access: yesInternational Journal of Genomics
Conclusions: This study broadens the spectrum of variants of TSC1 and TSC2 genes, reaffirming the clinical diagnosis of patients through genetic testing.
Jian Chen   +11 more
doaj   +1 more source

Adult congenital heart disease

open access: yesCurrent Opinion in Cardiology, 1994
There are approximately 500,000 adults in the United States with congenital heart disease, and this group is growing at 5% per year. Adult cardiologists are, for the most part, poorly trained in the treatment of congenital heart disease; pediatric cardiologists, on the other hand, work in children's hospitals where it is difficult to care for adults ...
openaire   +7 more sources

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi   +5 more
wiley   +1 more source

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