A5013012895- Immune Cell Function and Interaction
- Autoimmune and Inflammatory Disorders Research
- T-cell and B-cell Immunology
- Parkinson's Disease Mechanisms and Treatments
- Frailty in Older Adults
- Geriatric Care and Nursing Homes
- Parvovirus B19 Infection Studies
- Immunodeficiency and Autoimmune Disorders
- Telemedicine and Telehealth Implementation
- Health Systems, Economic Evaluations, Quality of Life
- Cerebral Palsy and Movement Disorders
- Glioma Diagnosis and Treatment
- Adolescent and Pediatric Healthcare
- Immune cells in cancer
- Family and Disability Support Research
- Stroke Rehabilitation and Recovery
- Balance, Gait, and Falls Prevention
- Patient Satisfaction in Healthcare
- Cellular transport and secretion
- Opioid Use Disorder Treatment
- Ion Channels and Receptors
- Physical Activity and Health
- Chronic Lymphocytic Leukemia Research
- Ear and Head Tumors
- Children's Physical and Motor Development
Karolinska University Hospital
2007-2024
Karolinska Institutet
2007-2024
Baylor College of Medicine
2024
Texas Children's Hospital
2024
Houston Methodist
2022-2023
Philadelphia VA Medical Center
2019-2022
Cornell University
2022
Methodist Hospital
2022
Nova Scotia Health Authority
2017-2018
University of Pennsylvania
2016
Lymphocytes mediate cytotoxicity by polarized release of the contents cytotoxic granules toward their target cells. Here, we have studied role calcium release-activated channel ORAI1 in human lymphocyte cytotoxicity. Natural killer (NK) cells obtained from an ORAI1-deficient patient displayed defective store-operated Ca 2+ entry (SOCE) and severely granule exocytosis leading to impaired cell lysis. Similar findings were using NK a stromal interaction molecule 1-deficient patient. The defect...
Abstract NK cells are renowned for their ability to kill virally infected or transformed host by release of cytotoxic granules containing granzymes and perforin. also have important regulatory capabilities chiefly mediated secretion cytokines, such as IFN-γ TNF. The secretory pathway the cytokines in is unknown. In this study, we show localization trafficking TNF human compartments vesicles that do not overlap with perforin other late endosome granule markers. Cytokines post-Golgi...
Parkinson disease (PD) is a complex neurodegenerative disorder that benefits from specialty care. Telehealth an innovative resource can enhance access to this care within patient-centered framework. Research suggests telehealth lead increased patient satisfaction, equal or better clinical outcomes, and cost savings, but these outcomes have not been well-studied in PD.We conducted dual active-arm 12-month randomized controlled trial assess travel burden, health utilization PD using video for...
Abstract Background Griscelli syndrome type 2 (GS2) is an autosomal‐recessive immunodeficiency caused by mutations in RAB27A , clinically characterized partial albinism and haemophagocytic lymphohistocytosis (HLH). We evaluated the frequency of 21 unrelated patients with syndromes without familial HLH (FHL) causing genes or established diagnosis GS2. In addition, we report three known Moreover, neurological involvement previously published genetically verified GS2 are reviewed. Procedure...
Frailty is associated with multi-system deterioration, and typically increases susceptibility to adverse events such as falls. can be better managed early screening intervention, ideally conducted in primary health care (PHC) settings. This study used the Consolidated Framework for Implementation Research (CFIR) an evaluation framework during second stage piloting of a novel web-based tool called Portal, developed aid screening, identification, planning frail patients community PHC....
Abstract Background A better understanding of the pathogenesis polyarticular juvenile idiopathic arthritis (polyJIA) is needed to aide in development data-driven approaches guide selection between therapeutic options. One inflammatory pathway interest JAK-STAT signaling. STAT3 a transcription factor critical differentiation T helper 17 cells (Th17s). Previous studies have demonstrated increased activation adult patients with rheumatoid arthritis, but less known about polyJIA. We hypothesized...
Abstract Primary hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disorder associated with autosomal recessive variants in genes required for perforin-mediated lymphocyte cytotoxicity. A rapid diagnosis crucial successful treatment. Although defective cytotoxic T (CTL) function causes pathogenesis, quantification of natural killer (NK)–cell exocytosis triggered by K562 target cells currently represents standard diagnostic procedure primary HLH. We have prospectively evaluated...
Chediak-Higashi syndrome (CHS) is caused by autosomal recessive mutations in LYST, resulting enlarged lysosomal compartments multiple cell types. CHS patients display oculocutaneous albinism and may develop life-threatening hemophagocytic lymphohistiocytosis (HLH). While NK cell-mediated cytotoxicity has been reported to be uniformly defective, variable defects T observed. The latter linked the degree of HLH susceptibility. Since discrepancies cell- cellular might result from differences...
Familial hemophagocytic lymphohistiocytosis (FHL) is an often-fatal hyperinflammatory disorder caused by autosomal recessive mutations in PRF1, UNC13D, STX11, and STXBP2. We identified a homozygous STX11 mutation, c.173T > C (p.L58P), three patients presenting clinically with from unrelated Pakistani families. The mutation yields amino acid substitution the N-terminal Habc domain of syntaxin-11 resulted defective natural killer cell degranulation. Notably, expression was decreased patient...
Abstract Familial hemophagocytic lymphohistiocytosis (FHL) is typically an autosomal recessive, early‐onset, life‐threatening immune disorder. Loss‐of‐function mutations in STX11 have been found to impair NK cell degranulation and cytotoxicity. Here, we describe two unrelated infants of Punjabi descent presenting with FHL carrying a novel, homozygous frameshift mutation [c.867dupG]. Western blot analysis indicated absence syntaxin‐11. Unexpectedly, by cells from one the patients was not...
Understanding and addressing the needs of frail persons is an emerging health priority for Nova Scotia internationally. Primary healthcare (PHC) providers regularly encounter in their daily clinical work. However, routine identification measurement frailty not standard practice and, general, there a lack awareness about how to identify respond frailty. A web-based tool called Frailty Portal was developed aid identifying, screening, providing care patients PHC settings. In this study, we will...