Nup107 contributes to the maternal to zygotic transition by preventing the premature nuclear export of pri-miRNA 427.

Emerging evidence suggests that the nuclear pore complex can have unique compositions and distinct nucleoporin functions in different cells. Here, we show that Nup107, a key component of the NPC scaffold, varies in expression over development: it is expressed at higher levels in the blastula compared to the gastrula suggesting a critical role prior to gastrulation. We find depletion of Nup107 affects the differentiation of the early germ layers leading to an expansion of the ectoderm at the expense of endoderm and mesoderm.

Improving accessibility to radiotherapy services in Cali, Colombia: cross-sectional equity analyses using open data and big data travel times from 2020.

Unlabelled: In this study, we evaluated and forecasted the cumulative opportunities for residents to access radiotherapy services in Cali, Colombia, while accounting for traffic congestion, using a new people-centred methodology with an equity focus. Furthermore, we identified 1-2 optimal locations where new services would maximise accessibility. We utilised open data and publicly available big data.

A Systematic Review and Meta-Analysis Evaluating the Surgical Outcomes of Progressive Tension Suturing Compared to Drains in Abdominoplasty Surgery.

Closed suction drains are placed to prevent seroma formation after abdominoplasty, but evidence of their effectiveness is limited, and they may increase infection risk and patient discomfort. Previous meta-analyses comparing progressive tension suturing (PTS) to drainage (D) in abdominoplasty have been methodologically weak and small in sample size. In this study we aimed to conduct the first robust systematic review comparing PTS and D outcomes in abdominoplasty.

Developmentally dynamic changes in DNA methylation in the human pancreas.

Development of the human pancreas requires the precise temporal control of gene expression via epigenetic mechanisms and the binding of key transcription factors. We quantified genome-wide patterns of DNA methylation in human fetal pancreatic samples from donors aged 6 to 21 post-conception weeks. We found dramatic changes in DNA methylation across pancreas development, with > 21% of sites characterized as developmental differentially methylated positions (dDMPs) including many annotated to genes associated with monogenic diabetes.

Dynamic measurements of geographical accessibility considering traffic congestion using open data: a cross-sectional assessment for haemodialysis services in Cali, Colombia.

Background: Many cities with traffic congestion lack accessibility assessments accounting for traffic congestion and equity considerations but have disaggregated georeferenced municipal-level open data on health services, populations, and travel times big data. We convened a multistakeholder intersectoral collaborative group that developed a digital, web-based platform integrating open and big data to derive dynamic spatial-temporal accessibility measurements (DSTAM) for haemodialysis services. We worked with stakeholders and data scientists and considered people's places of residence, service locations, and travel time to the service with the shortest travel time.

Chromatography affinity resin with photosynthetically-sourced protein A ligand.

Green, photosynthesizing plants can be proficiently used as cost-effective, single-use, fully biodegradable bioreactors for environmentally-friendly production of a variety of valuable recombinant proteins. Being near-infinitely scalable and most energy-efficient in generating biomass, plants represent profoundly valid alternatives to conventionally used stationary fermenters. To validate this, we produced a plastome-engineered tobacco bioreactor line expressing a recombinant variant of the protein A from Staphylococcus aureus, an affinity ligand widely useful in antibody purification processes, reaching accumulation levels up to ~ 250 mg per 1 kg of fresh leaf biomass.

Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements.

Persistent congenital hyperinsulinism (HI) is a rare genetically heterogeneous condition characterised by dysregulated insulin secretion leading to life-threatening hypoglycaemia. For up to 50% of affected individuals screening of the known HI genes does not identify a disease-causing variant. Large deletions have previously been used to identify novel regulatory regions causing HI.

Intensive management from diagnosis improves HbA1c at 12 months post-diagnosis: results from a prospective cohort study in children with newly diagnosed type 1 diabetes.

Aims: To examine the impact of intensive management of type 1 diabetes (T1D) from diagnosis on HbA1c 12 months from diagnosis.

Methods: HbA1c measured 12 months after diagnosis for 70 consecutively newly diagnosed children with T1D following implementation of an intensive management protocol was compared with 70 children consecutively diagnosed immediately pre-implementation. Intensive management involved carbohydrate counting and flexible insulin dosing from first meal with subcutaneous insulin, targeted blood glucose levels from 4-8mmol/L irrespective of time of day, avoidance of twice daily insulin regimen and promotion of continuous glucose monitoring (CGM).

Primate-specific ZNF808 is essential for pancreatic development in humans.

Identifying genes linked to extreme phenotypes in humans has the potential to highlight biological processes not shared with all other mammals. Here, we report the identification of homozygous loss-of-function variants in the primate-specific gene ZNF808 as a cause of pancreatic agenesis. ZNF808 is a member of the KRAB zinc finger protein family, a large and rapidly evolving group of epigenetic silencers which target transposable elements.

Membrane potential drives the exit from pluripotency and cell fate commitment via calcium and mTOR.

Transitioning from pluripotency to differentiated cell fates is fundamental to both embryonic development and adult tissue homeostasis. Improving our understanding of this transition would facilitate our ability to manipulate pluripotent cells into tissues for therapeutic use. Here, we show that membrane voltage (V) regulates the exit from pluripotency and the onset of germ layer differentiation in the embryo, a process that affects both gastrulation and left-right patterning.

Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism.

Gene expression is tightly regulated, with many genes exhibiting cell-specific silencing when their protein product would disrupt normal cellular function. This silencing is largely controlled by non-coding elements, and their disruption might cause human disease. We performed gene-agnostic screening of the non-coding regions to discover new molecular causes of congenital hyperinsulinism.

OCT4 activates a Suv39h1-repressive antisense lncRNA to couple histone H3 Lysine 9 methylation to pluripotency.

Histone H3 Lysine 9 (H3K9) methylation, a characteristic mark of heterochromatin, is progressively implemented during development to contribute to cell fate restriction as differentiation proceeds. Accordingly, in undifferentiated and pluripotent mouse Embryonic Stem (ES) cells the global levels of H3K9 methylation are rather low and increase only upon differentiation. How global H3K9 methylation levels are coupled with the loss of pluripotency remains largely unknown.

Cranioplasty: A Multidisciplinary Approach.

Decompressive craniectomy (DC) is an operation where a large section of the skull is removed to accommodate brain swelling. Patients who survive will usually require subsequent reconstruction of the skull using either their own bone or an artificial prosthesis, known as cranioplasty. Cranioplasty restores skull integrity but can also improve neurological function.

Type 1 diabetes diagnosed before age 15 years in Canterbury, New Zealand: A 50 year record of increasing incidence.

Objective: To describe the epidemiology of pediatric type 1 diabetes over 50 years in Canterbury, New Zealand. Further, to explore variation in case presentation according to age, gender, ethnicity, urban/rural character, socio-economic deprivation and immunogenetic features.

Research Design And Methods: Prospective ascertainment of cases commenced in 1982, and incident cases presenting 1970-1982 were ascertained retrospectively from clinical records.