Behavioral variant frontotemporal dementia with pathogenic variant in presenting as dementia with Lewy body disease.

A 75-year-old Chinese American man presented to behavioral neurology clinic for a second opinion of dementia with Lewy body disease (DLB). The clinical manifestations met the criteria for a probable DLB diagnosis. Yet, in-depth evaluation unveiled clinical history, family history, and neuroimaging evidences that suggested a diagnosis of behavioral variant frontotemporal dementia (FTD).

Autosomal Recessive Limb-Girdle Muscular Dystrophy-3: A Case Report of a Patient with Autism Spectrum Disorder.

Limb-girdle muscular dystrophies are a group of genetic disorders classically manifesting with progressive proximal muscle weakness. Affected individuals present with atrophy and weakness of the muscles of the shoulders and hips, and in some cases, intellectual disability or developmental delay has also been reported. Limb-girdle muscular dystrophy-3 is a recessive disorder caused by biallelic variants in the gene.

Pediatric reference intervals for clinical chemistry assays on Siemens ADVIA XPT/1800 and Dimension EXL in the CALIPER cohort of healthy children and adolescents.

Introduction: Accurate reference intervals (RIs) are essential for clinical interpretation of laboratory test results; however, major gaps exist in pediatric RIs. The Canadian Laboratory Initiative on Pediatric Reference Intervals (CALIPER) has established age- and sex-specific pediatric RIs on various analytical platforms. The current study expands the CALIPER database by establishing age- and sex-specific RIs for biochemical assays on Siemens ADVIA XPT/1800 and Dimension EXL Systems.

CLSI-based transference and verification of CALIPER pediatric reference intervals for 29 Ortho VITROS 5600 chemistry assays.

Background: Evidence-based reference intervals (RIs) are essential to accurately interpret pediatric laboratory test results. To fill gaps in pediatric RIs, the Canadian Laboratory Initiative on Pediatric Reference Intervals (CALIPER) project developed an age- and sex-specific pediatric RI database based on healthy pediatric subjects. Originally established for Abbott ARCHITECT assays, CALIPER RIs were transferred to assays on Beckman, Roche, Siemens, and Ortho analytical platforms.