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A 68-year-old female with a history of sporadic type and presumably secondary erythromelalgia with chronic intractable pain presented for foot surgery. The procedure was performed with combined general anesthesia and regional anesthesia consisting of the placement of a popliteal pain catheter for postoperative pain management. Subsequent whole-genome sequencing revealed that the patient was a homozygous carrier of the common missense mutation in the SCN9A gene coding for voltage-gated sodium channel (NaV1.7) - dbSNP rs6746030 (R1150W). The occurrence of this single nucleotide polymorphism (SNP) was previously suggested not to be associated with erythromelalgia but rather thought to be part of quantitative changes in the pain threshold in different cohorts of patients. The placement of the pain catheter, although controversial in patients with erythromelalgia, provided effective postoperative pain relief without any side effects.
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http://dx.doi.org/10.7759/cureus.4587 | DOI Listing |
J Alzheimers Dis Rep
September 2025
Communication Sciences and Disorders, Arnold School of Public Health, University of South Carolina, Columbia, SC, USA.
Background: The presence of the apolipoprotein E4 () allele and periodontal disease are independently correlated with higher levels of amyloid-β and inflammation in the brain, worse cognition, and Alzheimer's disease.
Objective: To assess whether the presence of the allele modifies the relationship between IgG antibodies against periodontal microorganisms and cognitive function in older adults participating in the NHANES III study.
Methods: This cross-sectional analysis was conducted among participants of the third National Health and Nutrition Examination Survey (NHANES III) (1988 to 1994), aged 60 years and older, with measurements of IgG antibodies against 19 periodontal microorganisms and alleles (N = 1644).
Hum Mol Genet
September 2025
Department of Neurology, MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, United States.
A de novo mutation in the transcription factor Nucleus accumbens associated protein 1 (NACC1) gene (c.892C > T p.R298W) causes a rare, severe neurodevelopmental disorder which manifests postnatally.
View Article and Find Full Text PDFEur J Pain
October 2025
Headache Science and Neurorehabilitation Unit, IRCCS Mondino Foundation, Pavia, Italy.
Background: Although robust genetic markers for episodic migraine (EM) have been identified, variants associated with chronic migraine (CM) are still unknown. Given the potential pathophysiologic overlap between EM and CM, we investigated whether six single nucleotide polymorphisms (SNPs), robustly associated with EM susceptibility (LRP1 rs11172113, PRDM16 rs10797381, FHL5 rs7775721, TRPM8 rs10166942, near TSPAN2 rs2078371 and MEF2D rs1925950) also play a role in the risk of developing CM.
Methods: A total of 200 EM and 202 CM participants were prospectively included.
Fish Shellfish Immunol
September 2025
State Key Laboratory of Mariculture Breeding, Engineering Research Center of the Modern Technology for Eel Industry, Ministry of Education, Key Laboratory of Healthy Mariculture for the East China Sea, Ministry of Agriculture and Rural Affairs, Fisheries College of Jimei University, Xiamen, 361021,
Nervous necrosis virus (NNV) can infect many species of fish and has caused severe economic losses to the aquaculture industry worldwide. Recently, there is a wealth of research indicating that heat shock protein 90ab1 (Hsp90ab1) is a receptor for red-spotted grouper nervous necrosis virus (RGNNV), however the potential function has not been examined so far. In this study, medaka (Oryzias latipes) hsp90ab1 gene (OlHsp90ab1) was identified, which contained 13 exons with a genome length of 5191 bp and coding sequences of 2175 bp.
View Article and Find Full Text PDFAsian J Androl
September 2025
Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230032, China.
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by impaired motility of cilia and flagella. Mutations in cilia- and flagella-associated protein 300 (CFAP300) are associated with human PCD and male infertility; however, the underlying pathogenic mechanisms remain poorly understood. In a consanguineous Chinese family, we identified a homozygous CFAP300 loss-of-function variant (c.
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