Phenotype and Genotype of Children with ALS2 gene-Related Disorder.

Introduction:  The Alsin Rho Guanine Nucleotide Exchange Factor ( gene encodes a protein alsin that functions as a guanine nucleotide exchange factor. The variations in gene leads to degeneration of upper motor neurons of the corticospinal tract. The phenotypes resulting from variants in gene are infantile-onset ascending hereditary spastic paralysis (IAHSP, OMIM # 607225), juvenile primary lateral sclerosis (JPLS, OMIM # 606353), and juvenile amyotrophic lateral sclerosis (JALS, OMIM # 205100).

Clinical Profile and Outcome of Pediatric Tetanus at a Tertiary Care Center.

The aims and objectives of this study were to study clinical profile and factors affecting mortality in tetanus. This was a retrospective study of 25 tetanus patients (aged 6 months-12 years) admitted to pediatric intensive care unit of a tertiary center (over 3 years). In this study, 25 tetanus cases (mean age 6.

Identifying technical aliases in SELDI mass spectra of complex mixtures of proteins.

Background: Biomarker discovery datasets created using mass spectrum protein profiling of complex mixtures of proteins contain many peaks that represent the same protein with different charge states. Correlated variables such as these can confound the statistical analyses of proteomic data. Previously we developed an algorithm that clustered mass spectrum peaks that were biologically or technically correlated.

A patient with worsening mobility: a diagnostic challenge.

Worsening mobility and "off legs" are common reasons to seek a medical opinion. A 62-year-old gentleman, previously fit and healthy, was referred to a district general hospital in the UK with worsening mobility. The initial clinical features were suggestive of Miller Fisher syndrome (MFS).