Results 81 to 90 of about 2,263,137 (364)

Prenatal diagnosis of urinary track defects

open access: yesJournal of Education, Health and Sport, 2019
Introduction Congenital malformations are the main cause of miscarriage, perinatal mortality and disability among children. According to Polish Registry of Congenital Malformations for 2005-2006 congenital disorders affect 2.0-4.0% of newborns.
Agnieszka Maria Berendt   +1 more
doaj   +3 more sources

Insufficiency of Antenatal Ultrasonographic Examination to Detect Major Congenital Abnormalities in the Presence of Severe Oligohydramnios: A Case Report

open access: yesGynecology Obstetrics & Reproductive Medicine, 2008
Twenty years old patient was referred to our clinic from another state hospital with the diagnosis of oligohydramnios and intrauterin growth restriction (IUGR).
Metin Altay   +5 more
doaj  

Integrated ‘Shield‐Spear’ Biological Patch for Fibrosis‐Free Bladder Reconstruction

open access: yesAdvanced Science, EarlyView.
Fibrosis‐free bladder reconstruction remains challenging. This study pioneers an integrated “shield‐spear” patch: The outer anionic hydrogel layer captures GATA6+ macrophages to suppress collagen overexpression, while the inner S100 aptamer‐engineered EVs target Schwann cells to downregulate the TGFβ/Smad pathway—inhibiting fibrosis with enhanced wound
Xiaoqi Wu   +14 more
wiley   +1 more source

Fetal heterotaxy with tricuspid atresia, pulmonary atresia, and isomerism of the right atrial appendages at 22 weeks. [PDF]

open access: yes, 2013
We report the accurate prenatal diagnosis at 22 weeks gestation of right atrial isomerism in association with tricuspid atresia. Several distinctive sonographic features of isomerism of the right atrial appendages were present in this fetus: complex ...
Richardson, Randy R   +3 more
core   +2 more sources

A Twist in the Diagnosis: Chronic Arthropathy Without Inflammation

open access: yes
Arthritis Care &Research, EarlyView.
María Á. Puche‐Larrubia   +3 more
wiley   +1 more source

PCSK9 Loss‐of‐Function Disrupts Cellular Microfilament Network via LIN28A/HES5/JMY Axis in Neural Tube Defects

open access: yesAdvanced Science, EarlyView.
PCSK9 acts as a molecular chaperone promoting LIN28A lysosomal degradation. LIN28A elevates transcription factor HES5, increasing JMY expression. PCSK9 loss causes neural tube defects (NTDs) by disrupting the LIN28A/HES5/JMY axis, and high JMY disorganizes the neural progenitor cell microfilament network, leading to incomplete neural tube structure in ...
Xiaoshuai Li   +6 more
wiley   +1 more source

Heavy metals and trace elements in maternal blood and prevalence of congenital limb abnormalities among newborns: the Japan Environment and Children’s Study

open access: yesEnvironmental Health and Preventive Medicine
Background: Heavy metals such as lead (Pb) and cadmium (Cd) have been associated with adverse pregnancy and developmental outcomes, including congenital abnormalities.
Atsuko Ikeda   +13 more
doaj   +1 more source

A rare case of SRD5A3‐CDG in a patient with ataxia and telangiectasia: A case report

open access: yesClinical Case Reports, 2022
Steroid 5α‐reductase type 3 congenital disorder of glycosylation (SRD5A3‐CDG) is an extremely rare congenital disease. Common manifestations are developmental delay, intellectual disability, ophthalmological abnormalities, cerebellar abnormalities ...
Sayyed Hesamedin Nabavizadeh   +5 more
doaj   +1 more source

Preimplantation Genetic Testing for Chromosomal Abnormalities: Aneuploidy, Mosaicism, and Structural Rearrangements

open access: yesGenes, 2020
There is a high incidence of chromosomal abnormalities in early human embryos, whether they are generated by natural conception or by assisted reproductive technologies (ART).
M. Viotti
semanticscholar   +1 more source

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