Polymorphonuclear leukocyte functions in patients with acute rheumatic fever and rheumatic heart disease

Polymorphonuclear (PMN) cell function was assessed in 30 children with active rheumatic fever (ARF) (Group I), 30 cases with active rheumatic heart disease (RHD) (Group II), 28 cases of ARF and RHD in remission (Group III) and 34 adults with quiescent RHD along with their age matched controls. All the groups showed normal spontaneous and chemotactic movement. Phagocytosis of yeast particles was significantly reduced in groups II (P less than 0.0005), III (P less than 0.025) and IV (P less than 0.005). The opsonic activity of disease sera was low in all 4 groups (P less than 0.0005). The intracellular metabolic activity was moderately elevated in Group III. Phagocytosis and opsonic activity were thus persistently low in all the groups including the remission and quiescent group.     

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy

The dominant cone-rod dystrophy gene CORD6 has previously been mapped to within an 8 cM interval on chromosome 17p12-p13. The retinal- specific guanylate cyclase gene (RETGC-1), which maps to within this genetic interval and previously was implicated in Leber's congenital amaurosis, was screened for mutations within this family and in a panel of small families and individuals with various cone and cone- rod dystrophy phenotypes. A missense mutation (E837D) was identified in affected members of the CORD6 family, as well as a second missense mutation (R838C) in three other families with dominant cone-rod dystrophy. RETGC-1 is only the fourth gene to be implicated in cone-rod dystrophy and this is the first report of dominant mutations in this gene.      

Herpes zoster and post-herpetic neuralgia--a clinical trial of aspirin in chloroform for anodyne

Pain associated with Herpes Zoster (HZ) and Post-herpetic Neuralgia (PHN) has been a challenging task to manage with ease. Topical aspirin dissolved in chloroform is an effective means of reducing pain due to HZ and PHN in most patients. The locus of pain origin and analgesia induced by topical aspirin is supposed to be at cutaneous free nerve ending pain receptors. The present study was conduced in fifty two patients of HZ and PHN. Pain intensity before and after the application of drug was measured with help of Sort Form McGill Pain Questionnaire (SE-MPQ). Most of the patients experienced relief of pain within 1-5 minutes after the aspirin-chloroform application. Maximum relief was achieved in about 30-40 minutes and persisted for 5-6 hrs. In the beginning 3-4 applications were required but frequency decreased gradually as the pain abated.     

Localization of a gene for otosclerosis to chromosome 15q25-q26

Among white adults otosclerosis is the single most common cause of hearing impairment. Although the genetics of this disease are controversial, the majority of studies indicate autosomal dominant inheritance with reduced penetrance. We studied a large multi- generational family in which otosclerosis has been inherited in an autosomal dominant pattern. Five of16 affected persons have surgically confirmed otosclerosis; the remaining nine have a conductive hearing loss but have not undergone corrective surgery. To locate the disease- causing gene we completed genetic linkage analysis using short tandem repeat polymorphisms (STRPs) distributed over the entire genome. Multipoint linkage analysis showed that only one genomic region, on chromosome 15q, generated a lod score >2.0. Additional STRPs were typed in this area, resulting in a lod score of 3.4. STRPs FES (centromeric) and D15S657 (telomeric) flank the 14. 5 cM region that contains an otosclerosis gene.