ABSTRACT
Erythromelalgia is a descriptive term for severe burning pain and erythema in the distal extremities relieved by cold and exacerbated by heat. Pediatric case series to date are relatively small. We extracted and analyzed medical record data for 42 pediatric patients to describe clinical characteristics, associated conditions, and responses to treatments. Informed consent was obtained according to an IRB-approved protocol that included gene discovery. Three patients had confirmed Nav1.7 sodium channelopathies, with six additional patients under investigation with novel gene candidates. There was a female predominance (2.5:1), and the median onset age was 12 years (IQR = 3-14). Patients saw a median of three specialists (IQR = 2-3) for a diagnosis. The majority (90%) reported bilateral symptoms. Cooling methods usually provided partial relief, while heat and exercise exacerbated pain. No medication appeared to be consistently effective; commonly prescribed medications included sodium channel blockers (n = 37), topical analgesics (n = 26), gabapentin (n = 22), and aspirin (n = 15). Based on the currently published literature, we believe this cohort is the largest pediatric study of erythromelalgia to date. Many findings are consistent with those of previously published case series. Work is in progress to establish a prospective cohort and multi-center registry.
ABSTRACT
Pups born to mice with a targeted deletion of relaxin or its receptor (Rxfp1) die within 24 h postpartum. This has been attributed, in part, to abnormal mammary gland development in relaxin-mutant mice (Rln-/-). However, mammary development is normal in relaxin receptor-mutant (Rxfp1-/-) mice. The present study aimed to verify the mammary phenotypes in late pregnant and early lactating Rln-/- mice and to test the hypothesis that relaxin is involved in milk protein synthesis. Comparisons between late pregnant and early lactating wildtype (Rln+/+) and Rln-/- mice showed no differences in lobuloalveolar structure or ductal branching in the mammary gland. Mammary explants from Rln-/- mice also expressed beta-casein and alpha-lactalbumin in response to lactogenic hormones at a similar level to Rln+/+ mice, implying normal milk protein synthesis. Pregnant Rln-/- mice infused with relaxin for 6 days gave birth to live pups without difficulty, and 96% of pups survived beyond 7 days. This is in contrast with the 100% pup mortality in saline-treated Rln-/- mice or 3-day relaxin-treated Rln-/- mice. Pups born to relaxin-treated Rln-/- dams weighed significantly less than Rln+/+ pups but had similar growth rates as their wildtype counterparts. In summary, relaxin is not critical for mammary gland development or beta-casein and alpha-lactalbumin expression in late pregnant mice. In addition, Rln-/- dams did not need to be treated with relaxin postpartum for the pups to survive, suggesting that relaxin has no role in the maintenance of lactation in mice.
Subject(s)
Lactation/metabolism , Mammary Glands, Animal/metabolism , Relaxin/deficiency , Animals , Animals, Newborn , Birth Weight , Caseins/metabolism , Female , Genotype , Gestational Age , Infusion Pumps, Implantable , Infusions, Subcutaneous , Lactalbumin/metabolism , Lactation/genetics , Litter Size , Mammary Glands, Animal/growth & development , Mice , Mice, Inbred C57BL , Mice, Knockout , Organ Culture Techniques , Phenotype , Pregnancy , RNA, Messenger/metabolism , Receptors, G-Protein-Coupled/metabolism , Relaxin/administration & dosage , Relaxin/genetics , Time FactorsABSTRACT
A review of the current literature relating to eye health in rural Australia was conducted. Few studies have been undertaken, with most information provided by the Australian Institute of Health and Welfare databases, The National Trachoma and Eye Health Program of 1980 and the Visual Impairment Project in Victoria in the mid 1990s. Key findings were that the rural population has an increased prevalence of pterygium, cataract, ocular trauma and glaucoma, but no difference in refractive error or diabetic retinopathy (although data are limited). Rural residents are more likely to have seen an optometrist but less likely to have seen an ophthalmologist. Interventions have been undertaken in ophthalmologist training to increase the rural workforce and tele-ophthalmology to provide city-based metropolitan ophthalmological support for rural practitioners. Further epidemiological data and evaluated interventions are urgently required to help identify and address the needs of rural Australian communities.