Results 81 to 90 of about 362,289 (308)

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

Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype–Phenotype Correlation

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in ...
Ethan M. Scott   +5 more
wiley   +1 more source

Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The purpose of this study is to analyze the prevalence of obesity in those affected by DDX3X‐related neurodevelopmental disorder (DDX3X‐NDD). Initial descriptions suggested that individuals with DDX3X‐NDD suffered from poor weight gain or failure to thrive in early childhood, likely in the setting of feeding difficulties and secondary to ...
Giavanna Verdi, Nathaniel H. Robin
wiley   +1 more source

Comparison of Epilepsy Induced by Ischemic Hypoxic Brain Injury and Hypoglycemic Brain Injury using Multilevel Fusion of Data Features [PDF]

open access: yesFusion: Practice and Applications Volume 10 , Issue 1 , PP: 100-115, 2023
The study aims to investigate the similarities and differences in the brain damage caused by Hypoxia-Ischemia (HI), Hypoglycemia, and Epilepsy. Hypoglycemia poses a significant challenge in improving glycemic regulation for insulin-treated patients, while HI brain disease in neonates is associated with low oxygen levels.
arxiv   +1 more source

Maternal and neonatal vaccination protects newborn baboons from pertussis infection.

open access: yesJournal of Infectious Diseases, 2014
BACKGROUND The United States is experiencing a pertussis resurgence that resulted in a 60-year high of 48 000 cases in 2012. The majority of hospitalizations and deaths occur in infants too young to be vaccinated.
J. Warfel   +4 more
semanticscholar   +1 more source

A Case of Prader‐Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of MAGEL2, NDN, and MKRN3, excluding the ...
Jannis Buecking   +6 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

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa   +2 more
wiley   +1 more source

Harnessing Infant Cry for swift, cost-effective Diagnosis of Perinatal Asphyxia in low-resource settings [PDF]

open access: yesarXiv, 2018
Perinatal Asphyxia is one of the top three causes of infant mortality in developing countries, resulting to the death of about 1.2 million newborns every year. At its early stages, the presence of asphyxia cannot be conclusively determined visually or via physical examination, but by medical diagnosis.
arxiv  

FRNET: Flattened Residual Network for Infant MRI Skull Stripping [PDF]

open access: yes, 2019
Skull stripping for brain MR images is a basic segmentation task. Although many methods have been proposed, most of them focused mainly on the adult MR images. Skull stripping for infant MR images is more challenging due to the small size and dynamic intensity changes of brain tissues during the early ages.
arxiv   +1 more source

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