Frontonasal dysplasia is etiologically heterogeneous and various subsets are known. Pai syndrome is one subset, which is characterized by mild hypertelorism, midline cleft lip, nasal and facial polyps, pericallosal lipoma, ocular anomalies, and normal neuropsychological development. Here, we report seven South American patients and review earlier reported cases. The phenotype is clinically variable and five reported patients were severely affected. The cause of Pai syndrome is unknown to date. Several literature findings have been noted: nondiagnostic and discordant minor signs in a parent of two separate families with an affected child; discordant phenotype in monozygotic twins in one instance; and a de novo reciprocal translocation, 46,X,t(X;16)(q28;q11.2) in one instance.
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http://dx.doi.org/10.1002/ajmg.a.31962 | DOI Listing |
NPJ Regen Med
December 2024
NHC Key Laboratory of Antibody Technique, Jiangsu Province Engineering Research Center of Antibody Drug, Department of Immunology, Nanjing Medical University, Nanjing, China.
Epidural fibrosis post laminectomy is the leading cause of failed back surgery syndrome. Little is known about the role and mechanisms of adipose tissues in epidural fibrosis. Here, we found that obese patients were more likely to develop epidural fibrosis after spine surgery.
View Article and Find Full Text PDFJ Recept Signal Transduct Res
December 2024
Father George Albuquerque Pai Cell and Molecular Biology Laboratory, Department of Biotechnology, School of Life Sciences, St Aloysius (Deemed to be University), Mangaluru, Karnataka, India.
Regulating insulin production by pancreatic beta cells is crucial for maintaining metabolic balance. Previous studies observed elevated neurotransmitter levels, like norepinephrine (NE), in metabolic syndrome mice with impaired insulin secretion. Given the therapeutic potential of β-adrenergic receptors (β-ARs) for diabetes and obesity, and the lack of structural data on murine β-ARs, we aimed to construct and validate 3D models to investigate their roles in insulin secretion regulation.
View Article and Find Full Text PDFMar Drugs
December 2024
Centre for Functional Ecology: Science for People & Planet, Marine Resources, Conservation and Technology-Marine Algae Lab, Department of Life Sciences, University of Coimbra, 3000-456 Coimbra, Portugal.
Metabolic Syndrome (MetS) is a complex, multifactorial condition characterized by risk factors such as abdominal obesity, insulin resistance, dyslipidemia and hypertension, which significantly contribute to the development of cardiovascular disease (CVD), the leading cause of death worldwide. Early identification and effective monitoring of MetS is crucial for preventing serious cardiovascular complications. This article provides a comprehensive overview of various biomarkers associated with MetS, including lipid profile markers (triglyceride/high-density lipoprotein cholesterol (TG/HDL-C) ratio and apolipoprotein B/apolipoprotein A1 (ApoB/ApoA1) ratio), inflammatory markers (interleukin 6 (IL-6), tumor necrosis factor alpha (TNF-α), plasminogen activator inhibitor type 1 (PAI-1), C-reactive protein (CRP), leptin/adiponectin ratio, omentin and fetuin-A/adiponectin ratio), oxidative stress markers (lipid peroxides, protein and nucleic acid oxidation, gamma-glutamyl transferase (GGT), uric acid) and microRNAs (miRNAs) such as miR-15a-5p, miR5-17-5p and miR-24-3p.
View Article and Find Full Text PDFSpine J
December 2024
Department of Neurosurgery, University Medical Center Mainz, Mainz, Germany.
Background Context: Spondylodiscitis management presents significant clinical challenges, particularly in critically ill patients, where the risks and benefits of surgical intervention must be carefully balanced. The optimal timing of surgery in this context remains a subject of debate.
Purpose: This study aims to evaluate the effectiveness of early surgery versus delayed surgery or conservative management in critically ill patients with de novo pyogenic spondylodiscitis.
Neurology
January 2025
Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada; and.
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