Craniofacial and cardiac defects in chd7 zebrafish mutants mimic CHARGE syndrome
Frontiers in Cell and Developmental Biology, 2022 Congenital heart defects occur in almost 80% of patients with CHARGE syndrome, a sporadically occurring disease causing craniofacial and other abnormalities due to mutations in the CHD7 gene.
Yuhan Sun +13 more
doaj +1 more source
Obstructive sleep apnea syndrome in the pediatric age: the role of the dentist [PDF]
, 2019 Sleep disordered breathing in children designates a wide spectrum of respiratory disorders characterized by partial or complete obstruction of the upper airways.
Di Carlo, G +4 more
core +1 more source
Expanding congenital abnormalities of the kidney and urinary tract (CAKUT) genetics: basonuclin 2 (BNC2) and lower urinary tract obstruction [PDF]
, 2019 his work was supported by FIS PI16/02057, PI19/00588, PI19/00815, DTS18/00032, REDinREN RD016/0009 Fondos FEDER, ERA-PerMed-JTC2018 (KIDNEY ATTACK AC18/00064 and PERSTIGAN AC18/00071), Sociedad Española de Nefrología, FRIAT, and Comunidad de Madrid B2017/
Fernández Prado, Raúl +3 more
core +1 more source
Wnt Signaling in Neural Crest Ontogenesis and Oncogenesis. [PDF]
, 2019 Neural crest (NC) cells are a temporary population of multipotent stem cells that generate a diverse array of cell types, including craniofacial bone and cartilage, smooth muscle cells, melanocytes, and peripheral neurons and glia during embryonic ...
Hao, Hongyan +4 more
core +2 more sources
Clinical Case Reports, 2020 We reported dental and craniofacial characteristics of an SJS patient with severe OSA. Not only does the syndrome cause skeletal abnormalities and myotonia, but it also affects the craniofacial development resulting in a severe constriction of maxillary ...
Mevadee Pibulniyom +3 more
doaj +1 more source
Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up. [PDF]
, 2015 BackgroundNoninvasive prenatal screening (NIPS) by next-generation sequencing of cell-free DNA (cfDNA) in maternal plasma is used to screen for common aneuploidies such as trisomy 21 in high risk pregnancies.
Chu, Tianjiao +5 more
core +2 more sources
Three-Dimensional Bioprinting Materials with Potential Application in Preprosthetic Surgery [PDF]
, 2016 Current methods in handling maxillofacial defects are not robust and are highly dependent on the surgeon’s skills and the inherent potential in the patients’ bodies for regenerating lost tissues.
Fahmy, Mina D. +4 more
core +2 more sources
Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study [PDF]
, 2017 PURPOSE: The aims of this study were to characterize isolated and non-isolated forms of corpus callosum dysgenesis (CCD) at fetal magnetic resonance imaging (MRI) and to identify early predictors of associated anomalies.
Antonelli, Amanda +11 more
core +1 more source
Arthritis Care &Research, Accepted Article.Purpose The study aimed to identify symptom‐based predictors of dry eye disease (DED) signs in the Sjögrens International Collaborative Clinical Alliance (SICCA) cohort. Methods Retrospective analysis examining 16 ocular symptoms (most graded 0‐4) and artificial tear (AT) use (graded 0‐3) as predictors of DED signs [abnormal ocular surface staining ...
Pragnya R Donthineni +7 more
wiley +1 more source
Evaluation of 4 Outcomes Measures in Microtia Treatment: Exposures, Infections, Aesthetics, and Psychosocial Ramifications. [PDF]
, 2017 BackgroundIn craniofacial microsomia, microtia and canal atresia pose formidable reconstructive challenges. We review our institutional experience in treating microtia and atresia to identify variables associated with 4 outcomes measures: complications ...
Bradley, James P +7 more
core