Results 71 to 80 of about 177,391 (311)

Infant Mortality in Novo Hamburgo: Associated Factors and Cardiovascular Causes

open access: yesArquivos Brasileiros de Cardiologia, 2015
Background: Infant mortality has decreased in Brazil, but remains high as compared to that of other developing countries. In 2010, the Rio Grande do Sul state had the lowest infant mortality rate in Brazil.
Camila de Andrade Brum   +2 more
doaj   +1 more source

Adverse social determinats and risk for congenital anomalies [PDF]

open access: yes, 2014
INTRODUCCIÓN: Diferentes trabajos han relacionando condiciones sociales adversas a nivel familiar y regional con resultados perinatales (mortalidad neonatal, bajo peso y prematuridad); sin embargo, pocos estudiaron el efecto de la pobreza sobre anomalías
Campaña, Hebe   +8 more
core   +3 more sources

Neonatal Graves' Disease with Maternal Hypothyroidism

open access: yesAmerican Journal of Perinatology Reports, 2017
Neonatal Graves' disease presenting as conjugated hyperbilirubinemia is a diagnostic challenge because the differential includes a gamut of liver and systemic diseases.
Gangaram Akangire   +5 more
doaj   +1 more source

Management of Iron Overload in Infants and Toddlers With Diamond–Blackfan Anemia Syndrome: A French–Italian Study

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Diamond–Blackfan Anemia Syndrome (DBAS) is a rare congenital anemia often requiring chronic red blood cell transfusions from infancy. Without appropriate chelation, iron overload develops early and may be severe; however, no data are available on chelation in patients under 3 years of age.
Francesca Torchio   +19 more
wiley   +1 more source

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa   +23 more
wiley   +1 more source

Genetics and genomic medicine in Argentina [PDF]

open access: yes, 2018
A historical summary of genetics and genomic medicine in Argentina. We go through the achievements and difficulties in the implementation of genetic and genomic services both in academia and health care.Fil: Vishnopolska, Sebastián Alexis.
Avena   +27 more
core   +1 more source

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

open access: yesAmerican 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   +4 more
wiley   +1 more source

Progress in research on safety of vaccination in pregnancy: a review of the literature

open access: yesZhongguo gonggong weisheng
Pregnant women are a high-risk group for several infectious diseases. Vaccination is the most economical and effective way to prevent infectious diseases in the general population, but for pregnant women, vaccination can present both risks and benefits ...
Xinan NING   +3 more
doaj   +1 more source

Protection against pertussis in humans correlates to elevated serum antibodies and memory B cells [PDF]

open access: yes, 2017
Pertussis is a respiratory infection caused by Bordetella pertussis that may be particularly severe and even lethal in the first months of life when infants are still too young to be vaccinated. Adults and adolescents experience mild symptoms and are the
Carsetti, Rita   +13 more
core   +1 more source

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

open access: yesAmerican 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   +25 more
wiley   +1 more source

Home - About - Disclaimer - Privacy