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To describe special facial features of children with Williams syndrome in China by using method of three-dimensional craniofacial anthropometry. Using three-dimensional stereo photogrammetric device, 14 craniofacial anthropometric measurements were performed and five indices were calculated in 52 children with Williams syndrome and 208 age and sex matched controls of Han Chinese ethnicity. Except intercanthal width, mouth breadth, morphological face height, nasal height-breadth index, nasal breadth-depth index, morphological ear index, the Williams syndrome group under 3 years old were smaller than the control group in the other 12 variables. Compared with the control group, the Williams syndrome group aged 3-5 years old had smaller biocular breadth, nasal length, nasorostral angle, bitragal breadth, ear width, morphological ear index and face depth. The Williams syndrome group aged above 6 years old had smaller biocular breadth, nasal breadth, bitragal breadth, ear width, ear length and face depth than the control group. The craniofacial variability index of the Williams syndrome group was greater than the control group. Greater variation was found among children with Williams syndrome than normal in China, specifically at eye, nose, ear and face shape, which demonstrate the usefulness of three-dimensional stereo photogrammetric analysis in supporting accurate diagnose of the patient with Williams syndrome.
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http://dx.doi.org/10.1002/ajmg.a.61750 | DOI Listing |
Genet Med
September 2025
Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK; The Royal Marsden NHS Foundation Trust, Fulham Road, London, UK. Electronic address:
Purpose: Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is a rare cancer susceptibility syndrome exclusively attributable to pathogenic variants in FH (HGNC:3700). This paper quantitatively weights the phenotypic context (PP4/PS4) of such very rare variants in FH.
Methods: We collated clinical diagnostic testing data on germline FH variants from 387 individuals with HLRCC and 1,780 individuals with renal cancer, and compared the frequency of 'very rare' variants in each phenotypic cohort against 562,295 population controls.
Br J Anaesth
September 2025
Anaesthesia & Critical Care, Injury, Recovery and Inflammation Sciences, University of Nottingham, Nottingham, UK; Centre for Research and Improvement, Royal College of Anaesthetists, London, UK.
Background: The SNAP-3 study reported one in five older surgical patients in the UK were living with frailty and two in three with multimorbidity. We now report characteristics and outcomes of specific subgroups of patients including individuals aged ≥85 yr, undergoing day or inpatient surgery and elective or emergency surgery, and undergoing common specialty procedures including orthopaedics, urology, colorectal surgery, and hip arthroplasty.
Methods: This prospective observational cohort study recruited patients aged ≥60 yr undergoing surgery during five days in March 2022 across 214 UK hospitals.
Dev Biol
September 2025
Department of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. Electronic address:
Thrombocytopenia-Absent Radius (TAR) syndrome is a rare congenital condition with reduced platelets, forelimb anomalies, and variable heart and kidney defects. TAR syndrome is caused by mutations in RBM8A/Y14, a component of the exon junction complex. How perturbing a general mRNA-processing factor causes the selective TAR Syndrome phenotypes remains unknown.
View Article and Find Full Text PDFJ Gen Virol
September 2025
Department of Microbiology & Immunology, Brody School of Medicine, East Carolina University, Greenville, NC 27834, USA.
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has been linked to several neurological symptoms in coronavirus disease 2019 (COVID-19) patients; however, the molecular mechanisms underlying virus-induced neuroinflammation are not well identified. For example, the effect of SARS-CoV-2 infection of the substantia nigra pars compacta (SNpc) of the midbrain has not been addressed, in spite of its importance in dopaminergic signalling and neurodegenerative abnormalities. The purpose of this study was to understand the SARS-CoV-2-induced inflammatory response in the SNpc region of the brain.
View Article and Find Full Text PDFCirc Cardiovasc Imaging
September 2025
Department of Cardiology, Boston Children's Hospital, Harvard Medical School, MA (F.S., A. Dionne, J.W.N., K.G.F.).
Background: 2D-speckle tracking echocardiography may help detect subclinical ventricular dysfunction, but data in multisystem inflammatory syndrome in children (MIS-C) are scarce. We investigated left ventricular (LV) strain parameters in MIS-C and their association with outcomes.
Methods: We performed an ambi-directional, 32-center cohort study on hospitalized MIS-C patients (March 2020-November 2021) with at least 1 echocardiogram read by the Core Lab.