Clinical course of suspected viral sore throat in young adults: cohort study

Objective. To evaluate the natural clinical course of suspected viral sore throat. Design. Prospective cohort study. Setting. Five military camps in Norway. Methods. In a randomized placebo-controlled trial comparing the effect of bovine colostrum tablets or placebo on non-streptococcal sore throat in young adults no statistically significant difference in illness duration was found. The participants were thus regarded as one cohort. The authors analysed 10.0 cm visual analogue scales (VAS) scores for ?sickness? and sore throat, using 1.0 cm as a cut-off for recovery. They furthermore explored whether the VAS for sore throat was a good test to discriminate between recovered/not recovered by use of a receiver operating characteristic (ROC) curve. Results. For sore throat, it was found that 51% had recovered by day 6 and 91% had recovered by day 8. Similarly for sickness, 65% had recovered by day 6 and 94% by day 8. The daily VAS scores for ?sickness? and sore throat were highly correlated (p = 0.001). The mean day of recovery from ?sickness? and sore throats (based on VAS scores) was 5.5 and 4.7 respectively and 5.3 based on the dichotomous outcome for throat pain. The ROC curve revealed that a VAS scoreâ€

RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

Primary microcephaly (MCPH) is characterized by reduced brain size and intellectual disability. The exact pathophysiological mechanism underlying MCPH remains to be elucidated, but dysfunction of neuronal progenitors in the developing neocortex plays a major role. We identified a homozygous missense mutation (p.W155C) in Ribosomal RNA Processing 7 Homolog A, RRP7A, segregating with MCPH in a consanguineous family with 10 affected individuals. RRP7A is highly expressed in neural stem cells in developing human forebrain, and targeted mutation of Rrp7a leads to defects in neurogenesis and proliferation in a mouse stem cell model. RRP7A localizes to centrosomes, cilia and nucleoli, and patient-derived fibroblasts display defects in ribosomal RNA processing, primary cilia resorption, and cell cycle progression. Analysis of zebrafish embryos supported that the patient mutation in RRP7A causes reduced brain size, impaired neurogenesis and cell proliferation, and defective ribosomal RNA processing. These findings provide novel insight into human brain development and MCPH. The RRP7A a gene is involved in ribosome biogenesis. Here the authors report a homozygous missense mutation segregating with primary microcephaly, and show that this occurs via functional defects in both nucleoli and primary cilia disrupting cell proliferation and neurogenesis