Low-concentration, continuous brachial plexus block in the management of Purple Glove Syndrome: a case report

<p>Abstract</p> <p>Introduction</p> <p>Purple Glove Syndrome is a devastating complication of intravenous phenytoin administration. Adequate analgesia and preservation of limb movement for physiotherapy are the two essential components of management.</p> <p>Case presentation</p> <p>A 26-year-old Tamil woman from India developed Purple Glove Syndrome after intravenous administration of phenytoin. She was managed conservatively by limb elevation, physiotherapy and oral antibiotics. A 20G intravenous cannula was inserted into the sheath of her brachial plexus and a continuous infusion of bupivacaine at a low concentration (0.1%) with fentanyl (2 μg/ml) at a rate of 1 to 2 ml/hr was given. She had adequate analgesia with preserved motor function which helped in physiotherapy and functional recovery of the hand in a month.</p> <p>Conclusion</p> <p>A continuous blockade of the brachial plexus with a low concentration of bupivacaine and fentanyl helps to alleviate the vasospasm and the pain while preserving the motor function for the patient to perform active movements of the finger and hand.</p

A consensus S. cerevisiae metabolic model Yeast8 and its ecosystem for comprehensively probing cellular metabolism

Genome-scale metabolic models (GEMs) represent extensive knowledgebases that provide a platform for model simulations and integrative analysis of omics data. This study introduces Yeast8 and an associated ecosystem of models that represent a comprehensive computational resource for performing simulations of the metabolism of Saccharomyces cerevisiae––an important model organism and widely used cell-factory. Yeast8 tracks community development with version control, setting a standard for how GEMs can be continuously updated in a simple and reproducible way. We use Yeast8 to develop the derived models panYeast8 and coreYeast8, which in turn enable the reconstruction of GEMs for 1,011 different yeast strains. Through integration with enzyme constraints (ecYeast8) and protein 3D structures (proYeast8DB), Yeast8 further facilitates the exploration of yeast metabolism at a multi-scale level, enabling prediction of how single nucleotide variations translate to phenotypic traits

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Purpose RAX2 encodes a homeobox-containing transcription factor, in which four monoallelic pathogenic variants have been described in autosomal dominant cone-dominated retinal disease. Methods Exome sequencing in a European cohort with inherited retinal disease (IRD) (n = 2086) was combined with protein structure modeling of RAX2 missense variants, bioinformatics analysis of deletion breakpoints, haplotyping of RAX2 variant c.335dup, and clinical assessment of biallelic RAX2-positive cases and carrier family members. Results Biallelic RAX2 sequence and structural variants were found in five unrelated European index cases, displaying nonsyndromic autosomal recessive retinitis pigmentosa (ARRP) with an age of onset ranging from childhood to the mid-40s (average mid-30s). Protein structure modeling points to loss of function of the novel recessive missense variants and to a dominant-negative effect of the reported dominant RAX2 alleles. Structural variants were fine-mapped to disentangle their underlying mechanisms. Haplotyping of c.335dup in two cases suggests a common ancestry. Conclusion This study supports a role for RAX2 as a novel disease gene for recessive IRD, broadening the mutation spectrum from sequence to structural variants and revealing a founder effect. The identification of biallelic RAX2 pathogenic variants in five unrelated families shows that RAX2 loss of function may be a nonnegligible cause of IRD in unsolved ARRP cases