Familial Paroxysmal Rhabdomyolysis: Management of Two Cases of the Non‐exertional Type

Ramesh, Venkateswaran; Gardner-Medwin, D.

doi:10.1111/j.1469-8749.1992.tb08567.x

Cited by 8 publications

(2 citation statements)

References 20 publications

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“…Although the elevation occurred on different days after dose 1, these two subjects experienced the elevation within one calendar day of each other. This may suggest a commonality, environmental or genetic, that has not been uncovered [30][31][32][33].…”

Section: Discussionmentioning

confidence: 99%

Safety and immunogenicity of ricin vaccine, RVEc™, in a Phase 1 clinical trial

Pittman

Reisler

Lindsey

et al. 2015

Vaccine

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Ricin is a potent toxin and potential bioterrorism weapon for which no specific licensed countermeasures are available. We report the safety and immunogenicity of the ricin vaccine RVEc™ in a Phase 1 (N=30) multiple-dose, open-label, non-placebo-controlled, dose-escalating (20, 50, and 100μg), single-center study. Each subject in the 20- and 50-μg dose groups (n=10 for each group) received three injections at 4-week intervals and was observed carefully for untoward effects of the vaccine; blood was drawn at predetermined intervals after each dose for up to 1 year. RVEc™ was safe and well tolerated at the 20- and 50-μg doses. The most common adverse events were pain at the injection site and headache. Of the 10 subjects who received a single 100-μg dose, two developed elevated creatine phosphokinase levels, which resolved without sequelae. No additional doses were administered to subjects in the 100-μg group. Immunogenicity of the vaccine was evaluated by measuring antibody response using the well standardized enzyme-linked immunosorbent assay (ELISA) and toxin neutralization assay (TNA). Of the subjects in the 20- and 50-μg dose groups, 100% achieved ELISA anti-ricin IgG titers of 1:500 to 1:121,500 and 50% produced neutralizing anti-ricin antibodies measurable by TNA. Four subjects in the 50-μg group received a single booster dose of RVEc™ 20-21 months after the initial dose. The single booster was safe and well tolerated, resulting in no serious adverse events, and significantly enhanced immunogenicity of the vaccine in human subjects. Each booster recipient developed a robust anamnestic response with ELISA anti-ricin IgG titers of 1:13,500 to 1:121,500 and neutralizing antibody titers of 1:400 to 1:3200. Future studies will attempt to optimize dose, scheduling, and route of administration. This study is registered at clinicaltrials.gov (NCT01317667 and NCT01846104).

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Section: Discussionmentioning

confidence: 99%

Safety and immunogenicity of ricin vaccine, RVEc™, in a Phase 1 clinical trial

Pittman

Reisler

Lindsey

et al. 2015

Vaccine

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“…The lack of lipodystrophy has been postulated to be from redundancy in the roles the LIPIN proteins have in triacylglycerol synthesis in human adipocytes [109]. Genetic dissection demonstrated that it is the lack of Lipin1 PAP activity, rather than co-activator activity, that drives the altered lipid metabolism that results in lipodystrophy in mice [110][111][112]. Thus, PAP activity is needed for normal adipocyte differentiation and triacylglcerol synthesis.…”

Section: Pathogenesis Of Majeed Syndromementioning

confidence: 99%

Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features

Ferguson

El‐Shanti

2021

Biomolecules

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Majeed syndrome is a multi-system inflammatory disorder affecting humans that presents with chronic multifocal osteomyelitis, congenital dyserythropoietic anemia, with or without a neutrophilic dermatosis. The disease is an autosomal recessive disorder caused by mutations in LPIN2, the gene encoding the phosphatidic acid phosphatase LIPIN2. It is exceedingly rare. There are only 24 individuals from 10 families with genetically confirmed Majeed syndrome reported in the literature. The early descriptions of Majeed syndrome reported severely affected children with recurrent fevers, severe multifocal osteomyelitis, failure to thrive, and marked elevations of blood inflammatory markers. As more affected families have been identified, it has become clear that there is significant phenotypic variability. Data supports that disruption of the phosphatidic acid phosphatase activity in LIPIN2 results in immune dysregulation due to aberrant activation of the NLRP3 inflammasome and overproduction of proinflammatory cytokines including IL-1β, however, these findings did not explain the bone phenotype. Recent studies demonstrate that LPIN2 deficiency drives pro-inflammatory M2-macrophages and enhances osteoclastogenesis which suggest a critical role of lipin-2 in controlling homeostasis at the growth plate in an inflammasome-independent manner. While there are no approved medications for Majeed syndrome, pharmacologic blockade of the interleukin-1 pathway has been associated with rapid clinical improvement.

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Rhabdomyolysis: A review

2002

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Rhabdomyolysis, a syndrome of skeletal muscle breakdown with leakage of muscle contents, is frequently accompanied by myoglobinuria, and if sufficiently severe, acute renal failure with potentially life-threatening metabolic derangements may ensue. A diverse spectrum of inherited and acquired disorders affecting muscle membranes, membrane ion channels, and muscle energy supply causes rhabdomyolysis. Common final pathophysiological mechanisms among these causes of rhabdomyolysis include an uncontrolled rise in free intracellular calcium and activation of calcium-dependent proteases, which lead to destruction of myofibrils and lysosomal digestion of muscle fiber contents. Recent advances in molecular genetics and muscle enzyme histochemistry may enable a specific metabolic diagnosis in many patients with idiopathic recurrent rhabdomyolysis.

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Familial Paroxysmal Rhabdomyolysis: Management of Two Cases of the Non‐exertional Type

Cited by 8 publications

References 20 publications

Safety and immunogenicity of ricin vaccine, RVEc™, in a Phase 1 clinical trial

Safety and immunogenicity of ricin vaccine, RVEc™, in a Phase 1 clinical trial

Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features

Rhabdomyolysis: A review

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