Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland.

Background: We investigated the phenotypes and genotypes of a cohort of 'long-surviving' individuals with motor neuron disease (MND) to identify potential targets for prognostication.

Methods: Patients were recruited via the Clinical Audit Research and Evaluation for MND (CARE-MND) platform, which hosts the Scottish MND Register. Long survival was defined as > 8 years from diagnosis.

Longitudinal retinal imaging study of newly diagnosed relapsing-remitting multiple sclerosis in Scottish population: baseline and 12 months follow-up profile of FutureMS retinal imaging cohort.

Objective: Multiple sclerosis (MS) is an inflammatory degenerative condition of central nervous system. The disease course and presentation of MS is highly heterogeneous. Advanced retinal imaging techniques such as optic coherence tomography (OCT) can capture abnormalities of anterior visual pathway with high resolution, which may contribute greater insights into the pathophysiology of MS.

Prevalence of multimorbidity and its impact on survival in people with motor neuron disease.

Background And Purpose: This study was undertaken to determine the prevalence of multimorbidity in people with motor neuron disease (MND) and to identify whether specific patterns of multimorbidity impact survival beyond age alone.

Methods: We performed a retrospective analysis of the Scottish national MND register from 1 January 2015 to 29 October 2019. People with amyotrophic lateral sclerosis, primary lateral sclerosis, progressive muscular atrophy, or progressive bulbar palsy were included.

CRISPR gRNA phenotypic screening in zebrafish reveals pro-regenerative genes in spinal cord injury.

Zebrafish exhibit robust regeneration following spinal cord injury, promoted by macrophages that control post-injury inflammation. However, the mechanistic basis of how macrophages regulate regeneration is poorly understood. To address this gap in understanding, we conducted a rapid in vivo phenotypic screen for macrophage-related genes that promote regeneration after spinal injury.

RNA-seq analysis and compound screening highlight multiple signalling pathways regulating secondary cell death after acute CNS injury .

Understanding the molecular mechanisms that regulate secondary cell death after acute central nervous system (CNS) injury is critical for the development of effective neuroprotective drugs. Previous research has shown that neurotoxic processes including excitotoxicity, oxidative stress and neuroinflammation can cause secondary cell death. Nevertheless, clinical trials targeting these processes have been largely unsuccessful, suggesting that the signalling pathways underlying secondary cell death remain incompletely understood.

Lack of relationship between infection by Helicobacter pylori and vomiting that usually occurs during pregnancy, although possible relationship with severe forms of emesis.

Objective: It has been reported that infection by Helicobacter pylori may cause severe vomiting during pregnancy (hyperemesis gravidarum). Two studies were carried out in order to examine the relationship between this infection and less severe vomiting.

Design And Methods: The first study was a retrospective study involving 3438 women who required admission to the hospital during pregnancy.

Immunohistological patterns of blood group ABO and type 1 chain (Lewis a Lewis b) and type 2 chain (H-2, Y) antigens in normal uterine cervix.

Ten monoclonal antibodies and one lectin were used to study the localization and distribution of Blood Group ABH, type 1 chain (Lewis a, Lewis b) and type 2 chain (H-2, Y) antigens in 22 cases of normal uterine cervix, with known ABO and Lewis phenotype and secretor status. The results showed that ABH isoantigen expression is clearly related to the secretor status. It is positive in the endo- and exocervical epithelium of secretor individuals and negative in non-secretors.