Results 91 to 100 of about 130,920 (262)
Pentalogy of Cantrell : the first Maltese case with successful outcome [PDF]
, 1997 Pentalogy of Cantrell is a rare disorder which was first described by Cantrell and his colleagues in 1958. It is comprised of congenital heart disease and midline defects.
Grech, Victor E. +2 more
core
Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
The Laryngoscope, EarlyView.We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal +3 more
wiley +1 more source
Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review
Movement Disorders Clinical Practice, EarlyView.Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes +6 more
wiley +1 more source
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu +4 more
wiley +1 more source
Neuroprotection, EarlyView.Abstract Aim Aromatase is the key enzyme in the biosynthesis of 17β‐estradiol, the most potent estrogen, which has pleiotropic neuroprotective properties. Aromatase levels increase in the brain after stroke, and its gene variants increase susceptibility to stroke. This study aims to determine whether aromatase overexpression improves stroke outcome and
Lindsay Gallagher +8 more
wiley +1 more source
A Review of Bioarcheological Investigations in Iron Age Cambodia
International Journal of Osteoarchaeology, EarlyView.ABSTRACT Archeological research within Cambodia is quite extensive, with significant projects led by both Cambodian archeologists and international researchers alike. Many of these projects have uncovered human skeletal remains. This article reviews archeological human skeletal studies in Cambodia, synthesizing published and unpublished data, primarily
Sophorn Nhoem +3 more
wiley +1 more source
International Journal of Osteoarchaeology, EarlyView.ABSTRACT This paper presents the first documented case of a fixed bone dental bridge in Portugal. This item was recovered alongside the remains of a young adult individual of indeterminate sex from the 19th century burial site of the 3rd Order of Our Lady of Carmo in Porto, Portugal.
Steffi Vassallo +8 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear +7 more
wiley +1 more source