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Exon location of glycine substitutions impacts kidney survival in autosomal dominant Alport Syndrome.
Nephrol Dial Transplant
January 2025
Department of Nephrology, Kidney Transplantation and Dialysis, CHU Lille, University of Lille, Lille, France.
Background And Hypothesis: Unlike X-linked or autosomal recessive Alport Syndrome, no clear genotype/phenotype correlation has yet been demonstrated in patients carrying a single variant of COL4A3 or COL4A4.
Methods: We carried out a multicenter retrospective study to assess the risk factors involved in renal survival in patients presenting a single pathogenic variant on COL4A3 or COL4A4.
Results: 97 patients presenting a single pathogenic variant of COL4A3 or COL4A4 were included.
Deproteinized Bovine Bone Mineral With Collagen for Anterior Maxillary Ridge Augmentation: A Retrospective Cohort Study.
Clin Implant Dent Relat Res
February 2025
Department of Implantology, The Affiliated Hospital of Stomatology, School of Stomatology, Zhejiang University School of Medicine, Hangzhou, China.
Objectives: This study aimed to assess the effects of deproteinized bovine bone mineral with collagen (DBBMC) combined with deproteinized bovine bone mineral (DBBM) on facial alveolar bone augmentation in the anterior maxillary region.
Materials And Methods: Patients receiving dental implant placement with simultaneous lateral bone augmentation using DBBM (control group) or DBBMC combined with DBBM (test group) were included in the study. The radiographic assessment of facial alveolar bone, such as facial horizontal bone thickness (FHBT), facial vertical bone level (FVBL), and square of facial bone (SFB), was taken by cone beam computed tomography (CBCT).
Characteristics and long-term health outcomes of the first domestic COVID-19 outbreak cases in Da Nang, Vietnam: a longitudinal cohort study.
Trop Med Health
January 2025
Department of Paediatric Infectious Diseases, Institute of Tropical Medicine, Nagasaki University, 1-12-4 Sakamoto, Nagasaki, 852-8523, Japan.
Background: Vietnam experienced the first COVID-19 domestic outbreak due to the Wuhan strain (B.1.1) in Da Nang from July 2020.
View Article and Find Full Text PDFMinimum acceptable diet and contributing factors among children aged 6-23 months in Afghanistan: insights from the 2022-2023 Multiple Indicator Cluster Survey.
BMC Nutr
January 2025
Research Centre for Child Psychiatry, University of Turku, Turku, Finland.
Background: Undernutrition among children is a public health concern in most low and middle-income countries (LMICs) and is associated with poor child growth and development. Knowledge about child feeding practices is needed for nutritional policies and programs. Hence, this study assessed the status of minimum acceptable diet (MAD) and its associated factors among children aged 6-23 months in Afghanistan.
View Article and Find Full Text PDFExome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.
Alzheimers Res Ther
January 2025
Department of Neuroscience "Rita Levi Montalcini", University of Turin, Via Cherasco 15, Turin, 10126, Italy.
Background: Alzheimer's disease (AD) is a progressive neurodegenerative disorder with both genetic and environmental factors contributing to its pathogenesis. While early-onset AD has well-established genetic determinants, the genetic basis for late-onset AD remains less clear. This study investigates a large Italian family with late-onset autosomal dominant AD, identifying a novel rare missense variant in GRIN2C gene associated with the disease, and evaluates the functional impact of this variant.
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