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Expanding the Genotypic and Phenotypic Spectrum of -Related Conditions: Three More Cases.
Genes (Basel)
December 2024
Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Introduction: Pathogenic variants in the gene are linked to a spectrum of syndromes that exhibit partial clinical overlap. Hemizygous loss-of-function variants are considered lethal in males, while heterozygous loss-of-function variants generally result in oro-facial-digital syndrome type 1. A reported phenotype, Simpson-Golabi-Behmel syndrome type 2, was published once but remains controversial, with many specialists questioning its validity and arguing about its continued listing in the OMIM database.
View Article and Find Full Text PDFForehead Lift With Cross-Frontal Scalp Anchorage.
Aesthet Surg J
January 2025
Plastic sugeon in private practice, Istanbul, Turkey.
Background: Over the past decade, facial aesthetics has gained popularity, with a notable increase in upper-face lift procedures. Despite the popularity of brows and forehead lifts, the optimal fixation technique remains controversial. Common methods involve suturing of the temporal fascia or using monocortical miniscrews anchored to the frontal bone.
View Article and Find Full Text PDFLimitation of switching sensory information flow in flexible perceptual decision making.
Nat Commun
January 2025
Institute of Neuroscience, Key Laboratory of Brain Cognition and Brain-Inspired Intelligence Technology, Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, 200031, China.
Humans can flexibly change rules to categorize sensory stimuli, but their performance degrades immediately after a task switch. This switch cost is believed to reflect a limitation in cognitive control, although the bottlenecks remain controversial. Here, we show that humans exhibit a brief reduction in the efficiency of using sensory inputs to form a decision after a rule change.
View Article and Find Full Text PDFWhen trauma bites back: a systematic review on direct orofacial macrotrauma and temporomandibular disorders.
Clin Oral Investig
December 2024
Department of Orofacial Pain and Dysfunction, Academic Centre for Dentistry (ACTA), University of Amsterdam and Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Objectives: Temporomandibular disorders (TMD) are musculoskeletal conditions with a multifactorial aetiology. The predictive role of direct orofacial macrotrauma in the development of TMD is considered controversial. This systematic review aims to elucidate the association between direct orofacial macrotrauma and TMD, and to identify potential factors involved in this relationship.
View Article and Find Full Text PDFBell's palsy characteristics, clinical manifestations, complications, and prognosis in a primary care setting, a single center study: A retrospective cohort study.
J Family Med Prim Care
November 2024
Department of Family Medicine and Polyclinics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Background: Bell's palsy (BP) is a cranial nerve disorder in which unilateral or bilateral paralysis of the facial nerve occurs. The study aims to study BP's characteristics, including its clinical manifestations, prognosis, and complications among adult patients aged 18 years and above.
Methods: A retrospective study of adult patients diagnosed with BP in a primary care setting] [January 2015 to December 2022].
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