Publications by authors named "M FINKEL"
Article Synopsis
- A female neonate born to consanguineous parents exhibited severe hyperparathyroidism (NSHPT) after a C-section, showing signs of respiratory distress and skeletal abnormalities following birth.
- Diagnostic challenges included elevated calcium levels and a homozygous variant in the calcium-sensing receptor (CaSR) gene, leading to the establishment of NSHPT.
- Management of NSHPT is critical due to its high mortality risk; treatment options typically involve addressing the high calcium levels and associated metabolic issues.
Redistribution of pollutants between different solid phases occurs frequently in field and laboratory settings. Examples include the input of urban particles carrying pollutants into soils or rivers with suspended particles or passive sampling. Since multiple mass transfer mechanisms are involved and natural particles typically are very heterogeneous, modeling of sorption/desorption kinetics is challenging.
View Article and Find Full Text PDFBackground: Wild-type and hereditary transthyretin-mediated amyloidosis (ATTRwt and ATTRv amyloidosis, respectively) are progressive, fatal diseases with a broad range of clinical presentations and multisystem effects. Despite having a higher prevalence, ATTRwt amyloidosis is less well characterized due to its non-hereditary nature, and its relatively poorer disease awareness delays diagnosis. Understanding of its natural history has evolved in recent years, but this is largely based on physician-collected data rather than patients' reports of their own experiences.
View Article and Find Full Text PDFColumn-leaching tests are a common approach for assessing the leaching behavior and resulting environmental risks of contaminated soils and waste materials, which are frequently reused for various construction purposes. The observed breakthrough curves of the contaminants are influenced by the complex dynamics of solute transport and kinetic inter-phase mass transfer. Disentangling these interactions necessitates numerical models.
View Article and Find Full Text PDFImportance: Stress and viral illness during pregnancy are associated with neurodevelopmental conditions in offspring. Autism screening positivity for children born during the pandemic remains unknown.
Objective: To examine associations between prenatal exposure to the pandemic milieu and maternal SARS-CoV-2 infection with rates of positive Modified Checklist for Autism in Toddlers, Revised (M-CHAT-R) screenings.