Background: Alpha-mannosidosis is caused by mutations in MAN2B1, leading to loss of lysosomal alpha-mannosidase activity. Symptoms include intellectual disabilities, hearing impairment, motor function disturbances, facial coarsening and musculoskeletal abnormalities. <p>Methods: To study the genotype-phenotype relationship for alpha-mannosidosis 66 patients were included. Based on the predicted ...

Background International agreements and domestic legislation regulate genetically modified (GM) crops for environmental release, recognizing that genetic engineering could result in unintended genotypic and phenotypic effects. In that context, omics technologies, which allow comprehensive characterization of the molecular profile of GM crops at all levels, may be used to assess alterations or effects ...

Rewarming from accidental hypothermia is often complicated by hypothermia-induced cardiac dysfunction, calling for immediate pharmacologic intervention. Studies show that although cardiac pharmacologic support is applied when rewarming these patients, a lack of updated treatment recommendations exist. Mainly due to lack of clinical and experimental data, neither of the international guidelines ...

The results of randomized controlled trials are unclear about the long-term efect of blood pressure (BP) on kidney function assessed as the glomerular fltration rate (GFR) in persons without chronic kidney disease or diabetes. The limited duration of follow-up and use of imprecise methods for assessing BP and GFR are important reasons why this issue has not been settled. Since a long-term randomized ...

This is a mini commentary on D Luton et al., pp. 1233–1241 in this issue. To view this article visit https://doi.org/10.1111/1471-0528.15804.

<i>Objectives</i> - The normal female external anal sphincter (EAS) is shorter anteriorly than laterally and posteriorly. Furthermore, the thickness of the very proximal part of the circular EAS is thinner than 50% of the lateral and posterior EAS thickness. The extent of these features is not fully explored. The aim of this prospective study was to assess the normal anal sphincter with 3‐dimensional ...

<p><b> IMPORTANCE</b> Appropriate use of antibiotics is life-saving in neonatal early-onset sepsis (EOS), but overuse of antibiotics is associated with antimicrobial resistance and long-term adverse outcomes. Large international studies quantifying early-life antibiotic exposure along with EOS incidence are needed to provide a basis for future interventions aimed at safely reducing neonatal ...

The prognosis of non-small cell lung cancer (NSCLC) remains poor and heterogeneous and new biomarkers are needed. As the immune system plays a pivotal role in cancer, the study of immune-related markers may provide valuable prognostic information of NSCLC. In 122 formalin-fixed, paraffin-embedded tumor tissue samples from early-stage NSCLC, tumor and tumor-near stromal areas were microdissected and ...

<i>Background</i> - Mothers with diabetes are less likely to achieve successful breastfeeding. Antenatal breastmilk expression (ABE) may facilitate earlier breastfeeding, but feasibility of introducing ABE and its acceptance among Scandinavian women have previously not been investigated.<br><br> <i>Methods</i> - This observational trial was conducted between the 1 January 2019 and the 12 March ...