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Multiple Imputation for Longitudinal Data: A Tutorial.
Stat Med
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Clinical Epidemiology & Biostatistics (CEBU), Murdoch Children's Research Institute, Parkville, Australia.
Longitudinal studies are frequently used in medical research and involve collecting repeated measures on individuals over time. Observations from the same individual are invariably correlated and thus an analytic approach that accounts for this clustering by individual is required. While almost all research suffers from missing data, this can be particularly problematic in longitudinal studies as participation often becomes harder to maintain over time.
View Article and Find Full Text PDFAdult Wilms Tumor With Inferior Vena Cava Thrombus on an Incomplete Duplex Collecting System Ureter Fissus Proximalis Managed at a Tertiary Hospital in Tanzania: A Case Report and Literature Review.
Clin Case Rep
January 2025
Department of Surgery Muhimbili University of Health and Allied Sciences Dar es Salaam Tanzania.
Wilms' tumor (WT), also known as nephroblastoma, is a malignant embryonal kidney tumor composed of embryonic cells and is the most prevalent tumor among children, but isolated cases occur infrequently in the adult population. Adult WT is defined according to the criteria of Kilton, Matthews, and Cohen, which comprise age above 15 years and histological patterns characteristic of WT. We report a case of an adult WT with venous thrombus on an incomplete duplex collecting system.
View Article and Find Full Text PDFEating disorders: clinical update.
Ir J Psychol Med
January 2025
Academic Department Child & Adolescent Psychiatry, UCD School of Medicine, University College Dublin, Dublin, Ireland.
Variation exists in our attitude and behaviour towards food and exercise, resulting in different degrees of health and ill health. Cultural and economic factors contribute to this, alongside personal choices, leading to a spectrum from normative eating, through disordered eating to the extremes of eating disorders (EDs). Understanding the intricate interplay between biological, psychological, and sociocultural factors to eating, exercise and body image is paramount to understand the current state regarding EDs and to deliver/develop multifaceted and individualised treatments.
View Article and Find Full Text PDF'No causative variants found': an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing.
BMJ Case Rep
January 2025
Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Paired box 2 ()-related disorder, also known as renal coloboma syndrome, is a variably penetrant autosomal dominant condition, associated with renal and ophthalmological abnormalities. We report a child with -related disorder who presented atypically with acute ataxia on a background of stage 3 chronic kidney disease. Extensive biochemical, radiological and gene agnostic rapid trio exome sequencing was non-diagnostic.
View Article and Find Full Text PDFThe Kinesin Kar3 is Required for Endoplasmic Reticulum-Associated Degradation.
Mol Biol Cell
January 2025
Department of Biology, Ball State University, Muncie, Indiana.
Degradation of aberrant, excess, and regulatory proteins at the endoplasmic reticulum (ER) is a conserved feature of eukaryotic cells, disruption of which contributes to disease. While remarkable progress has been made in recent years, mechanisms and genetic requirements for ER-Associated Degradation (ERAD) remain incompletely understood. We recently conducted a screen for genes required for turnover of a model ER translocon-associated substrate of the Hrd1 ubiquitin ligase in .
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