Congenital absence of pain perception is a rare phenotype. Here we report two unrelated adult individuals who have a previously unreported neuropathy consisting of congenital absence of pain with hyperhidrosis (CAPH). Both subjects had normal intelligence and productive lives despite failure to experience pain due to broken bones, severe cold or burns. Functional assessments revealed that both are generally hypesthetic with thresholds greater than two standard deviations above normal for a several of modalities in addition to noxious stimuli. Sweating was 3 to 8-fold greater than normal. Sural nerve biopsy showed that all types of myelinated and unmyelinated fibers were severely reduced. Extensive multi-antibody immunofluorescence analyses were conducted on several skin biopsies from the hands and back of one CAPH subject and two normal subjects. The CAPH subject had all normal types of immunochemically and morphologically distinct sensory and autonomic innervation to the vasculature and sweat glands, including a previously unknown cholinergic arterial innervation. Virtually all other types of normal cutaneous C, Adelta and Abeta-fiber endings were absent. This subject had no mutations in the genes SCN9A, SCN10A, SCN11A, NGFB, TRKA, NRTN and GFRA2. Our findings suggest three hypotheses: (1) that development or maintenance of sensory innervation to cutaneous vasculature and sweat glands may be under separate genetic control from that of all other cutaneous sensory innervation, (2) the latter innervation is preferentially vulnerable to some environmental factor, and (3) vascular and sweat gland afferents may contribute to conscious cutaneous perception.
Summary. A simple and reliable method for the estimation of cytidine deaminase (cytidine aminohydrolase; EC 3.5.4.5) activity in pregnancy serum is described. This enzyme does not require magnesium for activation and is also more stable than deoxycytidylate deaminase (dCMP deaminase, dCMP aminohydrolase; EC 3.5.4.12). There was excellent correlation between the two enzymes (r= 0.92). Both enzymes showed increased activity in abnormal pregnancy. Both enzyme activities were found to be similar in 1305 maternal serum samples and therefore due to the simplicity of cytidine deaminase estimation it is recommended for the screening of large numbers of antenatal sera for abnormal pregnancies.
The value of measuring plasma urate and serum deoxycytidylate deaminase (dCMP deaminase) for the early diagnosis of pre-eclampsia has been investigated in 45 patients. A combination of increased blood pressure and increased plasma urate identified 19 patients with a high incidence of fetal and maternal morbidity ascribable to pre-eclampsia. Seventeen of the 19 patients also had an increased serum dCMP deaminase. Serial antenatal observations for a mean period of 104 days (36-179 days) on 33 of the patients demonstrated that plasma urate and serum dCMP deaminase increased together as early changes in the development of pre-eclampsia. In six patients, blood pressure, plasma urate and serum dCMP deaminase all increased but in only one was the rise in blood pressure the first change. Elevations of plasma urate and serum dCMP deaminase are therefore both early features of pre-eclampsia. Serial measurements can give warning of the disorder before the appearance of other clinical features. The change in dCMP deaminase is probably another reflection of early renal involvement in the pre-eclamptic process.INCREASED plasma urate concentration is an associated with a high perinatal mortality early and characteristic feature of pre-eclampsia particularly between 28 and 36 weeks gestation which helps to differentiate the disorder from (Redman ef al, 1976b). It is therefore possible essential and cther chronic forms of hyper-to use serial measurements of blood pressure texion coinciding with pregnancy (Pollack and and plasma urate to diagnose the development Nettles, 1960;McFarlane, 1963). On average, of pre-eclampsia. The time at which the plasma the plasma urate begins to rise six wee!
SUMMARY Cytidine deaminase (CD), a cytoplasmic enzyme, is thought to leak out of damaged cells and can be measured in fluids by a simple biochemical assay. This study has shown that serum CD activity is raised in rheumatoid arthritis (RA) compared with osteoarthritis (OA). Synovial fluid (SF) CD activity was always less than the corresponding serum activity (mean SF/serum ratio=0-6) in OA but up to 22 times greater than the corresponding serum activity in RA (mean SF/serum ratio= 13-1), suggesting CD production in inflammatory joints. Evidence to support the SF neutrophil as a cell of CD origin is provided by the CD gradient running from cells to SF to synovium. The close correlation between SF CD activity and neutrophil count (r=0-93) indicates that SF CD activity is an accurate measure of acute synovial inflammation. Weak correlation of serum CD activity with erythrocyte sedimentation rate (ESR) (r=0 44) and Creactive protein (CRP) (r=0-49) implies that CD estimations supply different though related information about rheumatoid disease activity. We suggest that CD released from damaged neutrophils diffuses from all inflamed joints into the blood, so that serum CD activity may provide an integrated measure of joint inflammation more specific than traditional measures such as the ESR.
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