Results 11 to 20 of about 193,234 (311)

Capillary Malformation/Arteriovenous Malformation

open access: yes, 2013
Vascular anomalies are a heterogeneous group of disor- ders divided into tumors and malformations based on clinical, radiologic, and immunohistochemical studies.
Nicole Revencu   +2 more
core   +3 more sources

Capillary Malformation-Arteriovenous Malformation Syndrome [PDF]

open access: yesCureus, 2021
Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal dominant inherited rare type of vascular malformation encountered in a neonate and first described in 2003. It has been reported in association with heterozygous mutations in the RASA1 gene, which encodes the protein RASp21.
Alluhaibi, Razan   +2 more
openaire   +2 more sources

Abernethy malformation: A comprehensive review [PDF]

open access: yes, 2022
Abernethy malformation is a rare condition in which portomesenteric blood bypasses the liver and drains into the systemic vein through a partial or complete shunt. It is categorised into two types on the basis of the shunt pattern between the portal vein
Mona Bhatia   +5 more
core   +1 more source

Nuclear factor I-C disrupts cellular homeostasis between autophagy and apoptosis via miR-200b-Ambra1 in neural tube defects

open access: yesCell Death and Disease, 2021
Impaired autophagy and excessive apoptosis disrupt cellular homeostasis and contribute to neural tube defects (NTDs), which are a group of fatal and disabling birth defects caused by the failure of neural tube closure during early embryonic development ...
Wanqi Huang   +8 more
doaj   +1 more source

Anorectal Malformations [PDF]

open access: yesClinics in Colon and Rectal Surgery, 2018
Abstract This chapter provides a review of the diagnosis and management of anorectal malformations. It describes the initial workup and care in the newborn period, as well as the indications and techniques for initial surgical intervention, if required, and definitive reconstructive surgery.
Richard J, Wood, Marc A, Levitt
openaire   +2 more sources

PIWI-interacting RNA sequencing profiles in maternal plasma-derived exosomes reveal novel non-invasive prenatal biomarkers for the early diagnosis of nonsyndromic cleft lip and palate

open access: yesEBioMedicine, 2021
Background: Congenital malformations are common birth defects with high neonatal morbidity and mortality. It is essential to find simpler and more efficient biomarkers for early prenatal diagnosis. Therefore, we investigated PIWI-interacting RNAs (piRNAs)
Shanshan Jia   +10 more
doaj   +1 more source

Impact of prenatal exposure to metallic elements on neural tube defects: Insights from human investigations

open access: yesEcotoxicology and Environmental Safety, 2023
Metallic elements play a pivotal role in maternal and fetal health. Metals can cross the placental barrier and be absorbed by fetuses, where they may affect closure of the neural tube during embryonic development. Neural tube defects (NTDs), which result
Wanqi Huang   +3 more
doaj   +1 more source

Intra-amniotic transplantation of brain-derived neurotrophic factor-modified mesenchymal stem cells treatment for rat fetuses with spina bifida aperta

open access: yesStem Cell Research & Therapy, 2022
Background Spina bifida aperta (SBA) is a relatively common clinical type of neural tube defect. Although prenatal fetal surgery has been proven to be an effective treatment for SBA, the recovery of neurological function remains unsatisfactory due to ...
Wei Ma   +10 more
doaj   +1 more source

Small but strong: the emerging role of small nucleolar RNA in cardiovascular diseases

open access: yesFrontiers in Cell and Developmental Biology, 2023
Cardiovascular diseases (CVDs) are the leading cause of mortality and disability worldwide. Numerous studies have demonstrated that non-coding RNAs (ncRNAs) play a primary role in CVD development.
Xue Sun   +11 more
doaj   +1 more source

Anorectal Malformations [PDF]

open access: yesOrphanet Journal of Rare Diseases, 2006
Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex ...
Peña Alberto, Levitt Marc A
openaire   +3 more sources

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