Glycolate oxidase deficiency in a patient with congenital hyperinsulinism and unexplained hyperoxaluria

ConclusionsThe results lead to the conclusion that this baby has two unrelated autosomal recessive conditions, CHI and GO deficiency, and also hyperoxaluria of unknown aetiology. Deficiency of GO is a very rare disorder with only two previously published cases. It is considered to be an essentially benign inborn error of metabolism. The present case is unique in that GO deficiency is associated with persistent hyperoxaluria.

CONCLUSION: These results confirm the therapeutic versatility of our approach. However, to the extent that its synergistic efficacy is dependent on the ability to achieve both a lethal photothermal effect and the thermally-controlled release of a sufficient amount of antibiotic, they also demonstrate the importance of carefully designing appropriate antibody and antibiotic combinations to achieve the desired therapeutic synergy. PMID: 29025325 [PubMed - as supplied by publisher]

CONCLUSIONS: Head-cooling could substantially reduce the negative effect of hyperthermia on human brain activity as well as thermal sensation. PMID: 29025324 [PubMed - as supplied by publisher]

Authors: Liu F, Yu X, Liang P, Cheng Z, Han Z, Yu J Abstract PURPOSE: To evaluate the efficacy and safety of ultrasound-guided percutaneous microwave ablation (MWA) for large hepatic cavernous hemangiomas (HCHs) with ablation of the feeding artery and aspiration of blood from hemangioma simultaneously. MATERIALS AND METHODS: From January 2011 to December 2016, 40 patients (29 females, 11male; average age 43.25±7.65 years) with 42 giant hepatic hemangiomas (mean diameter7.02±1.55cm, range4.1-10.8 cm) were treated with image-guided percutaneous MWA with ablation of the feeding artery and aspi...

Authors: Kalayinia S, Goodarzynejad H, Maleki M, Mahdieh N Abstract The Human Genome Project (HGP), as the primary sequencing of the human genome, lasted more than one decade to be completed using the traditional Sanger's method. At present, next-generation sequencing (NGS) technology could provide the genome sequence data in hours. NGS has also decreased the expense of sequencing; therefore, nowadays it is possible to carry out both whole-genome (WGS) and whole-exome sequencing (WES) for the variations detection in patients with rare genetic diseases as well as complex disorders such as common cardiovascular disea...

This study aims to investigate the behaviours of mothers and children with autism spectrum disorder during joint engagement, with a focus on pacing or rate (i.e., incidences per minute) of their behaviours when being in this state. MethodVideo recordings of 10 min of free‐play between 58 children (2–4 years) diagnosed with childhood autism and their mothers were used to examine rate of mothers' and children's behaviours (i.e., toy introduction, toy expansion, positive affect, and language) during joint engagement, the association between rate of mothers and children's behaviours, the relation between rate...

DEMENTIA and neurological diseases could be prevented by eating more honey.

Multivitamin use in pregnancy may lower the risk for co-occurring autism and intellectual disability.Medscape Medical News

Thursday 19 October is UNISON’s SOS Libraries Day. UNISON members and activists in libraries will be standing up for our public library service, holding events and calling for an end to the seemingly endless assault on our libraries. Last week was Libraries Week, organised by library and information association CILIP, which celebrated everything good about libraries. And it’s clear we love libraries. Why else would we make 250 million visits to public libraries in Great Britain in the last year? That’s more than visits to the cinema, theatre, live music gigs, and trips to the UK’s top 10 touris...

; victims no longer 'dirty people'

Abstract Anurans emit distress calls when attacked by predators as a defensive mechanism. As distress calls may trigger antipredator behaviour even in individuals that are not under attack, we tested whether this defensive behaviour induced behavioural changes in neighbouring conspecifics. We compared the behavioural responses of two species of Neotropical hylid frogs (genus Boana) to conspecific distress calls and white noise. Individuals of both species interrupted their vocal activity and decreased call rate after hearing the distress call. Natural variation on signal intensity calibrated among the nearest neighbours di...