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| http://dx.doi.org/10.34067/KID.0000352020 | DOI Listing |
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Clinical presentation of hemifacial microsomia in a South African population.
J Plast Surg Hand Surg
January 2025
Discipline of Clinical Anatomy, School of Laboratory Medicine and Medical Sciences, Westville Campus University of KwaZulu-Natal, Durban, South
Background: Hemifacial microsomia (HFM) presentation includes gross distorted ramus, malposition temporomandibular joint, small glenoid fossa, distorted condyle and notch, malformed orbit, cupping ear or absent external ear, and facial nerve palsy. HFM is the second most prevalent congenital deformity of the face, with little literature from the South African population. This retrospective study elucidated the demographic characteristics and clinical presentations of HFM patients in a select South African population and compared it to the literature.
View Article and Find Full Text PDFPatterns of general and abdominal obesity and their association with hypertension control in the iranian hypertensive population: insights from a nationwide study.
BMC Public Health
January 2025
Non-Communicable Diseases Research Center, Endocrinology and Metabolism Population Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
Background: The coexistence of obesity and hypertension (HTN) is a global health concern due to its association with various health abnormalities. This study targeted the association between uncontrolled HTN-defined according to the JNC8 guidelines- and different obesity patterns (general and abdominal) among adult hypertensive individuals.
Methods: Data for the present investigation were obtained from the 2021 STEPwise Approach to NCD Risk Factor Surveillance (STEPS) national survey in Iran.
Three-dimensional sonographic findings of diprosopus: a case report and literature review.
BMC Pregnancy Childbirth
January 2025
Department of Obstetric and Gynecological Ultrasound, The Second Affiliated Hospital of Dalian Medical University, Dalian, China.
Background: Diprosopus is one of the rarest anomalies. It typically manifests as bilateral alterations and often involves anomalies within the cranial structures. In this report, we present a case of a fetus with diprosopus diagnosed prenatally.
View Article and Find Full Text PDFA novel frameshift variant in the gene is associated with recessive oculodentodigital dysplasia.
Ophthalmic Genet
January 2025
Department of Ophthalmology, Hospital das Clínicas - Empresa Brasileira de Serviços Hospitalares, Federal University of Pernambuco, Recife, Brazil.
Background: Oculodentodigital dysplasia (ODDD) is a rare syndrome that causes a constellation of facial, ophthalmic, dental, and limb abnormalities. Variants in the gap junction alpha-1 () gene have been described in patients with ODDD. Hereby we present the ocular manifestations in a patient with recessive ODDD due to a novel homozygous frameshift variant in .
View Article and Find Full Text PDFLoss of KAT6B causes premature ossification and promotes osteoblast differentiation during development.
Dev Biol
January 2025
The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, 3052, Australia. Electronic address:
The MYST family histone acetyltransferase gene, KAT6B (MYST4, MORF, QKF) is mutated in two distinct human congenital disorders characterised by intellectual disability, facial dysmorphogenesis and skeletal abnormalities; Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome and Genitopatellar syndrome. Despite its requirement in normal skeletal development, the cellular and transcriptional effects of KAT6B in skeletogenesis have not been thoroughly studied. Here, we show that germline deletion of the Kat6b gene in mice causes premature ossification in vivo, resulting in shortened craniofacial elements and increased bone density, as well as shortened tibias with an expanded pre-hypertrophic layer, as compared to wild type controls.
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