Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030193 (pain)
 261,466 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disorder characterized by excess sweating induced by cold exposure, camptodactyly and kyphoscoliosis. CISS is genetically heterogeneous. Deficiency of the CRLF1 or the CLCF1 gene function results in one of two clinically indistuinguishable disorders called CISS1 and CISS2, respectively. We present two Turkish brothers (22 and 13 years old) who had excess sweating induced by cold exposure, severe dorsal scoliosis, camptodactyly, reduced pain sensitivity and marfanoid habitus. The patients were homozygous and their parents heterozygous for a novel missense mutation c.413C>T (p.Pro138Leu) in CRLF1 gene. The cranial magnetic resonance imaging (MRI) of two patients also showed multiple small hyperintense lesions in the subcortical white matter. Similar MRI finding has also been reported in a Japanese woman with CISS1 and marfanoid habitus. The lesions found in the present cases showed no characteristic features. However, multiple small hyperintense lesions in subcortical white matter on T2 weighted and fluid attenuation inversion recovery (FLAIR) images may support the clinical diagnosis of CISS.
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PMID:Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene. 2302 29

Spinous process fixation (SPF) has gained attention as a less invasive option for lumbar fusion surgery. Minimally invasive techniques are of interest in an elderly population due to decreased surgical time and post-operative complications. Clinical outcomes and fusion rates have not been determined in a large cohort. Our objective was to describe significant predictors of visual analog scale (VAS), length of stay, blood loss, fusion rates, and complication rates for patients treated for degenerative lumbar spondolysis with ISP fixation with and without supplemental instrumentation. Charts were assessed for post-operative VAS vs. pre-operative VAS at: 1-3, >3-6, and >6-12 months. To control confounding variables, VAS scores were modeled as a repeated-measures linear-mixed-model. In a sub-cohort CT images were assessed for interspinous and interbody (IB) fusion. The images were reviewed by an independent radiologist to evaluate fusion status. Eighty-six SPF patients (91 levels, mean age 67 years) were identified. After determining the model, age and sex remained predictors of VAS. Adjusting for age and sex, patients saw a decrease of 3.6 VAS points from baseline to three months (95% CI: 2.9-4.4, p<0.0001) that was maintained over the six to 12 month follow-up period. A sub-cohort of 50 patients with CT scans were identified and assessed for ISP and IB fusion at a mean of 181 days postoperatively. Ninety-four percent of levels demonstrated ISP fusion. Sixty-one percent of solid ISP fusion patients also had an interbody cage, but this did not impact fusion rates. Eighty-six percent of these levels showed solid IB fusion (BSF-3). Of the four pseudoarthrosed levels, two had pedicle screw fixation, and two were IB and ISP fixation. Only two patients went on to re-exploration and explantation due to pain secondary to spinous process and/or lamina fracture. This elderly cohort treated with SPF demonstrated significant improvement in VAS with reliable fusion rates.
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PMID:Clinical and radiographic outcomes after spinous process fixation and posterior fusion in an elderly cohort. 2543 67