Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2
CONCLUSIONS: We diagnosed this atypical case of MFDM by the detection of a novel pathogenetic mutation in EFTUD2. We also observed previously unreported features. These findings enrich both the genotypic and phenotypic spectrum of MFDM.PMID:38562046 | DOI:10.1002/mgg3.2426 (Source: Molecular Medicine)
Source: Molecular Medicine - April 2, 2024 Category: Molecular Biology Authors: Ying Chen Run Yang Xin Chen Naier Lin Chenlong Li Yaoyao Fu Aijuan He Yimin Wang Tianyu Zhang Jing Ma Source Type: research
Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2
CONCLUSIONS: We diagnosed this atypical case of MFDM by the detection of a novel pathogenetic mutation in EFTUD2. We also observed previously unreported features. These findings enrich both the genotypic and phenotypic spectrum of MFDM.PMID:38562046 | PMC:PMC10985408 | DOI:10.1002/mgg3.2426 (Source: Molecular Medicine)
Source: Molecular Medicine - April 2, 2024 Category: Molecular Biology Authors: Ying Chen Run Yang Xin Chen Naier Lin Chenlong Li Yaoyao Fu Aijuan He Yimin Wang Tianyu Zhang Jing Ma Source Type: research
Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2
ConclusionsWe diagnosed this atypical case of MFDM by the detection of a novel pathogenetic mutation inEFTUD2. We also observed previously unreported features. These findings enrich both the genotypic and phenotypic spectrum of MFDM. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 2, 2024 Category: Genetics & Stem Cells Authors: Ying Chen,
Run Yang,
Xin Chen,
Naier Lin,
Chenlong Li,
Yaoyao Fu,
Aijuan He,
Yimin Wang,
Tianyu Zhang,
Jing Ma Tags: CLINICAL REPORT Source Type: research
Utah flouts FDA with law greenlighting placental stem cell therapies
The state of Utah is challenging the authority of the U.S. Food and Drug Administration (FDA) with a new, unusually bold law that allows patients to receive unapproved placental stem cell “therapies.” Observers predict that the law, which takes effect on 1 May, could significantly undermine FDA’s authority to regulate drugs and other treatments.
The
new statute
, passed almost unanimously by both houses of the Utah legislature in February and signed by Governor Spencer Cox (R) last month, declares that Utah health care providers “may perform a [placental] stem cell therapy that is not approved by [F...
Source: Science of Aging Knowledge Environment - April 1, 2024 Category: Geriatrics Source Type: research
Erratum to: 2023 updates to the spina bifida transition to adult care guidelines
J Pediatr Rehabil Med. 2024;17(1):143. doi: 10.3233/PRM-249001.NO ABSTRACTPMID:38552125 | DOI:10.3233/PRM-249001 (Source: Journal of Pediatric Rehabilitation Medicine)
Source: Journal of Pediatric Rehabilitation Medicine - March 29, 2024 Category: Rehabilitation Source Type: research
Detection of non-cardiac fetal abnormalities by ultrasound at 11-14 weeks: systematic review and meta-analysis
CONCLUSIONS: Accurate detection of congenital anomalies using first trimester ultrasound is feasible. In this study we have determined screening characteristics for individual anomalies and have shown that detection rates and false positive rates are dependent on the type of anomaly. The use of a standardised protocol allows diagnostic performance to be maximised, and this particularly enhances screening performance for the detection of spina bifida, facial clefts and limb reduction defects. Highlighting the types of anomalies amenable to diagnosis and determining favourable screening test factors can support the developme...
Source: The Ultrasound Review of Obstetrics and Gynecology - March 28, 2024 Category: Radiology Authors: J Karim D Di Mascio N Roberts A T Papageorghiou ACCEPTS study Source Type: research
