Results 1 to 10 of about 557,713 (120)

Genomic Investigation of Infantile and Childhood Epileptic Encephalopathies in Kazakhstan: An Urgent Priority

open access: yesFrontiers in Neurology, 2021
Objectives: Infantile and childhood epileptic encephalopathies are a group of severe epilepsies that begin within the first year of life and often portend increased morbidity. Many of them are genetically determined.
Altynshash Jaxybayeva   +6 more
doaj   +1 more source

Differential diagnosis of Drave's syndrome and Gasto's Lenox syndrome on the example of a clinical case [PDF]

open access: yesĶazaķstannyṇ Klinikalyķ Medicinasy, 2017
Presented a case of Drave's and Gasto's Lenox syndromes in a 10-years old patient. Provided differential diagnosis and discussed treatment options.
Raushan Kenzhegulova   +2 more
doaj   +1 more source

Direct targeting of DOCK4 by miRNA-181d in oxygen-glucose deprivation/reoxygenation-mediated neuronal injury

open access: yesLipids in Health and Disease, 2023
The miRNA-181 (miR-181) family regulates neuronal persistence during cerebral ischemia/reperfusion injury (CI/RI). Since the effect of miR-181d on CI/RI has never been studied, the current work sought to determine the involvement of miR-181d in neuronal ...
Shengnan Li   +11 more
doaj   +1 more source

A toddler with an unusually severe polyarticular arthritis and a lung involvement: a case report

open access: yesBMC Pediatrics, 2022
Background COPA syndrome is a rare hereditary inflammatory disease caused by mutations in the gene encoding the coatomer protein subunit alpha, causing excessive production of type I interferon.
Pietro Basile   +7 more
doaj   +1 more source

Update on the Classification and Pathophysiological Mechanisms of Pediatric Cardiorenal Syndromes

open access: yesChildren, 2021
Cardiorenal syndrome (CRS) is defined as a disorder resulting from the abnormal interaction between the heart and kidney, in which acute or chronic dysfunction of one organ may lead to acute and/or chronic dysfunction of the other.
Giorgia Ceravolo   +13 more
doaj   +1 more source

Analysis of copy number variations and possible candidate genes in spontaneous abortion by copy number variation sequencing

open access: yesFrontiers in Endocrinology, 2023
IntroductionEmbryonic chromosomal abnormalities represent a major causative factor in early pregnancy loss, highlighting the importance of understanding their role in spontaneous abortion.
Wei Bai   +6 more
doaj   +1 more source

Analysis of cumulative outcomes and influencing factors of patients with discrepancies between age and AMH levels in the early follicular phase prolonged protocol

open access: yesFrontiers in Endocrinology, 2023
ObjectiveTo explore the cumulative outcomes and influencing factors of patients with discrepancies between age and Anti-Müllerian hormone (AMH) levels in the early follicular phase prolonged protocol.MethodsA total of 1282 cycles of in-vitro ...
Kexin Wang   +7 more
doaj   +1 more source

Trends in epidemiology of hyperglycemia in pregnancy in Taiwan, 2008-2017

open access: yesFrontiers in Endocrinology, 2023
BackgroundHyperglycemia in pregnancy (HIP) increases the risk of adverse pregnancy outcomes. The increasing prevalence of overweight or obesity and the increasing proportion of pregnant women with advanced maternal age (AMA) in the recent decade may ...
Shin-Yu Lin   +11 more
doaj   +1 more source

Increasing maternal age associates with lower placental CPT1B mRNA expression and acylcarnitines, particularly in overweight women

open access: yesFrontiers in Physiology, 2023
Older pregnant women have increased risks of complications including gestational diabetes and stillbirth. Carnitine palmitoyl transferase (CPT) expression declines with age in several tissues and is linked with poorer metabolic health. Mitochondrial CPTs
Hannah E. J. Yong   +19 more
doaj   +1 more source

Maternal risk factors associated with term low birth weight in India: A review

open access: yesAnthropological Review, 2023
Low birth weight is one of the leading factors for infant morbidity and mortality. To a large extent affect, various maternal risk factors are associated with pregnancy outcomes by increasing odds of delivering an infant with low birth weight.
Harsh Vats   +4 more
doaj   +1 more source

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