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3 results on '"K. Gorski"'

1. Research With Refugees and Vulnerable Populations in a Post-COVID World: Challenges and Opportunities.

Author

Saad B, George SA, Bazzi C, Gorski K, Abou-Rass N, Shoukfeh R, and Javanbakht A

Subjects
Child, Humans, Pandemics, Vulnerable Populations, Prospective Studies, Refugees, COVID-19
Abstract

At the Stress, Trauma and Anxiety Research Clinic (STARC) at Wayne State University in Detroit, we are currently amid data collection for a longitudinal prospective study of Syrian refugee children and their parents. Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, our goal is to understand the impact of exposure to war trauma and the stress of migration on symptoms of posttraumatic stress disorder, anxiety, and depression, as well as the neurobiological, epigenetic, and environmental correlates of risk and resilience. Like many research groups around the world, the COVID-19 pandemic brought our work to a screeching halt. Researchers who, like us, were engaged in human subjects research were left grappling with the question of how to continue their work while ensuring the safety of both research staff and participants, and while maintaining scientific integrity. In March 2020, our institution halted all in-person human subjects research that did not have direct benefits to participants, which continued until October, when research activity was resumed subject to implementation of modified procedures. Over the past 2 years, we have pivoted, adapted, and flexed, ultimately making changes that have allowed us to continue successful data collection throughout the pandemic. This article will discuss the specific challenges of working with ethnically minoritized and immigrant populations during the pandemic, the adaptations that we implemented to enable safe and effective data collection, as well as the new knowledge that we can apply to future research protocols., (Copyright © 2022 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.)

Published
2022
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2. A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.

Author

Nevanlinna V, Konovalova S, Ceulemans B, Muona M, Laari A, Hilander T, Gorski K, Valanne L, Anttonen AK, Tyynismaa H, Courage C, and Lehesjoki AE

Subjects
Alleles, Arginine-tRNA Ligase metabolism, Brain Edema physiopathology, Cerebellum pathology, Epilepsy genetics, Epilepsy physiopathology, Frameshift Mutation, Humans, Infant, Intellectual Disability genetics, Intellectual Disability physiopathology, Magnetic Resonance Imaging, Male, Microcephaly genetics, Muscle Hypotonia blood, Muscle Hypotonia cerebrospinal fluid, Muscle Hypotonia genetics, Muscle Hypotonia physiopathology, Mutation, Missense, Neurodegenerative Diseases physiopathology, Nuclear Proteins genetics, Olivopontocerebellar Atrophies enzymology, Olivopontocerebellar Atrophies physiopathology, Optic Atrophy genetics, Optic Atrophy physiopathology, Phenotype, Seizures genetics, Seizures physiopathology, Spasms, Infantile physiopathology, Transcription Factors genetics, Arginine-tRNA Ligase genetics, Cerebellum diagnostic imaging, Olivopontocerebellar Atrophies diagnosis, Olivopontocerebellar Atrophies genetics
Abstract

Pontocerebellar hypoplasia type 6 (PCH6) is a rare infantile-onset progressive encephalopathy caused by biallelic mutations in RARS2 that encodes the mitochondrial arginine-tRNA synthetase enzyme (mtArgRS). The clinical presentation overlaps that of PEHO syndrome (Progressive Encephalopathy with edema, Hypsarrhythmia and Optic atrophy). The proband presented with severe intellectual disability, epilepsy with varying seizure types, optic atrophy, axial hypotonia, acquired microcephaly, dysmorphic features and progressive cerebral and cerebellar atrophy and delayed myelination on MRI. The presentation had resemblance to PEHO syndrome but sequencing of ZNHIT3 did not identify pathogenic variants. Subsequent whole genome sequencing revealed novel compound heterozygous variants in RARS2, a missense variant affecting a highly conserved amino acid and a frameshift variant with consequent degradation of the transcript resulting in decreased mtArgRS protein level confirming the diagnosis of PCH6. Features distinguishing the proband's phenotype from PEHO syndrome were later appearance of hypotonia and elevated lactate levels in blood and cerebrospinal fluid. On MRI the proband presented with more severe supratentorial atrophy and lesser degree of abnormal myelination than PEHO syndrome patients. The study highlights the challenges in clinical diagnosis of patients with neonatal and early infantile encephalopathies with overlapping clinical features and brain MRI findings., (Copyright © 2019 Elsevier Masson SAS. All rights reserved.)

Published
2020
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