Disco-Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder.

Background: Trinucleotide repeat expansions are an emerging class of genetic variants associated with various movement disorders. Unbiased genome-wide analyses can reveal novel genotype-phenotype associations and provide a diagnosis for patients and families.

Objective: The aim was to identify the genetic cause of a severe progressive movement disorder phenotype in 2 affected brothers.

Risk score stratification of cutaneous melanoma patients based on whole slide images analysis by deep learning.

Background: There is a need to improve risk stratification of primary cutaneous melanomas to better guide adjuvant therapy. Taking into account that haematoxylin and eosin (HE)-stained tumour tissue contains a huge amount of clinically unexploited morphological informations, we developed a weakly-supervised deep-learning approach, SmartProg-MEL, to predict survival outcomes in stages I to III melanoma patients from HE-stained whole slide image (WSI).

Methods: We designed a deep neural network that extracts morphological features from WSI to predict 5-y overall survival (OS), and assign a survival risk score to each patient.

Visible-Light Photo-Iniferter Polymerization of Molecularly Imprinted Polymers for Direct Integration with Nanotransducers.

Molecularly Imprinted Polymers (MIPs) have gained prominence as synthetic receptors, combining simplicity of synthesis with robust molecular recognition akin to antibodies and enzymes. One of their main application areas is chemical sensing. However, direct integration of MIPs with nanostructured transducers, crucial for enhancing sensing capabilities and broadening MIPs sensing applications, remains limited.

A Non-Equilibrium Species Distribution Model Reveals Unprecedented Depth of Time Lag Responses to Past Environmental Change Trajectories.

Previous studies have demonstrated legacy effects of current species distributions to past environmental conditions, but the temporal extent of such time lag dynamics remains unknown. Here, we have developed a non-equilibrium Species Distribution Modelling (SDM) approach quantifying the temporal extent that must be taken into account to capture 95% of the effect that a given time series of past environmental conditions has on the current distribution of a species. We applied this approach on the distribution of 92 European forest birds in response to past trajectories of change in forest cover and climate.

Reactions of Tertiary Aliphatic Cations with Silylated Alkynes: Substitution, Cyclization and Unexpected C-H Activation Products.

Capozzi's groundbreaking work in 1982 introduced a fascinating reaction involving highly reactive tertiary aliphatic cations and silylated alkynes. This reaction provided an innovative solution to the challenge of coupling a fully substituted tertiary aliphatic fragment with an alkyne moiety. Building upon Capozzi's pioneering efforts, we started an extensive exploration of reaction conditions to expand the initial scope of this reaction.

Metal-Free Multicatalytic Decarbonylation of Aldehydes Driven by Light.

A metal-free dual photo- and organocatalytic decarbonylation of aliphatic aldehydes is described for the first time. On the one hand, a wide range of tertiary aldehydes are smoothly decarbonylated thanks to the combination of thioxanthone as photocatalyst and diphenyl disulfide as organocatalyst. On the other hand, by simply using 4-CzIPN as photocatalyst instead of thioxanthone, various secondary aldehydes readily undergo decarbonylation in an orthogonal manner, via the in situ formation of 1,4-dihydropyridines.

Effects of protection on large-bodied reef fishes in the western Indian Ocean.

Predatory and large-bodied coral reef fishes have fundamental roles in the functioning and biodiversity of coral reef ecosystems, but their populations are declining, largely due to overexploitation in fisheries. These fishes include sharks, groupers, Humphead wrasse (Cheilinus undulatus), and Green Humphead parrotfish (Bolbometopon muricatum). In the western Indian Ocean, this situation is exacerbated by limited population data on these fishes, including from conventional visual census methods, which limit the surface area surveyed.

Endocytosis mediated by megalin and cubilin is involved in enamel development.

Background: Endocytosis of enamel matrix proteins (EMPs) by ameloblasts is a key process in the mineralization of enamel during the maturation stage of amelogenesis. However, the relevant receptor mediating endocytosis of EMPs is still unclear. The aim of this study was to explore potential endocytic receptors involved in this process.

Neutral lipids restrict the mobility of broken DNA molecules during comet assays.

One widespread technique to assess in relative terms the amount of broken DNA present in the genome of individual cells consists of immobilizing the cell's nucleus under an agarose pad (called the nucleoid) and subjecting the whole genome to electrophoresis to force broken DNA molecules out of it. Since the migrating broken DNA molecules create a tail behind the nucleoid, this technique is named the comet assay. While performing comet assays regularly, we systematically observed circular regions devoid of DNA within the nucleoid region.

Inherited non-syndromic polydactyly in a Berber and Arabian-Berber horse family.

Background: Supernumerary digits, or polydactyly, have been described in various species including humans, wild and domestic animals. In horses, it represents the most common congenital limb malformation, which has only been described in isolated cases or nuclear families. Molecular aetiology has not been reported.

Communicating scientific evidence: drugs for Alzheimer's disease as a case study.

This paper reviews the scientific evidence on new anti-amyloid monoclonal antibodies for treating Alzheimer's disease as a case study for improving scientific evidence communication. We introduce five guidelines condensed from the biomedical evidence literature but adapted to the short format of science communication in e.g.

SMARCB1-deficient malignant melanocytic uveal tumours: a new neural crest-derived tumour entity with SMARCB1-related germline predisposition.

Rhabdoid tumours (RT) are an aggressive malignancy affecting <2-year-old infants, characterised by biallelic loss-of-function alterations in SWI/SNF-related BAF chromatin remodelling complex subunit B1 (SMARCB1) in nearly all cases. Germline SMARCB1 alterations are found in ~30% of patients and define the RT Predisposition Syndrome type 1 (RTPS1). Uveal melanoma (UVM), the most common primary intraocular cancer in adults, does not harbour SMARCB1 alterations.

Ultrasensitive Chemiresistive Gas Sensors Based on Dual-Mesoporous Zinc Stannate Composites for Room Temperature Rice Quality Monitoring.

The integration of dual-mesoporous structures, the construction of heterojunctions, and the incorporation of highly concentrated oxygen vacancies are pivotal for advancing metal oxide-based gas sensors. Nonetheless, achieving an optimal design that simultaneously combines mesoporous structures, precise heterojunction modulation, and controlled oxygen vacancies through a one-step process remains challenging. This study proposes an innovative method for fabricating zinc stannate semiconductors featuring dual-mesoporous structures and tunable oxygen vacancies via a direct solution precursor plasma spray technique.

Population Pharmacokinetic Modelling of Apixaban in End-Stage Kidney Disease Patients with Atrial Fibrillation Receiving Haemodialysis.

Background And Objective: Apixaban is increasingly being used for stroke prevention in patients with end-stage kidney disease with atrial fibrillation undergoing haemodialysis, but no pharmacostatistical model is available for dosage adjustment. This study aimed to develop a population pharmacokinetic model of apixaban in these patients to characterise its dialytic clearance and determine optimal dosing regimens and discontinuation timing before surgery.

Methods: Patients received 2.

Improving benign paroxysmal positional vertigo management in the emergency department: A longitudinal study post-GRACE-3.

Background: Vertigo is a priority for training and decision support in emergency departments (ED). Benign paroxysmal positional vertigo (BPPV), though manageable at bedside, remains frequently underdiagnosed and undertreated. This study assessed the effectiveness of a two-tiered educational intervention on posterior and horizontal BPPV management in the ED setting.

Huscher modified technique for robotic pancreaticojejunostomy: a video report.

Pancreaticojejunostomy (PJ) is a critical step in pancreaticoduodenectomy (PD), often complicated by the risk of postoperative pancreatic fistula (POPF). This video report demonstrates a novel robotic PJ technique employing a self-expandable metallic stent. The method involves the use of the Da Vinci Xi robotic system and the WallFlex™ Biliary RX Stent for improved anastomotic support, particularly in high-risk cases defined by soft pancreatic texture and narrow duct diameter (<3 mm).

Pollen-Derived Fatty Acids and Amino Acids Mediate Variance in Pollinator Visitation.

Pollinators help maintain functional landscapes and are sensitive to floral nutritional quality. Both proteins and lipids influence pollinator foraging, but the role of individual biochemical components in pollen remains unclear. We conducted an experiment comprising common garden plots of six plant species (Asteraceae, Rosaceae, Onagraceae, Boraginaceae, and Plantaginaceae).

Characterizing the underlying microangiopathy of deep cerebellar intracerebral hemorrhage.

Introduction: While cerebral amyloid angiopathy is likely responsible for intracerebral hemorrhage (ICH) occurring in superficial (grey matter, vermis) cerebellar locations, it is unclear whether hypertensive arteriopathy (HA), the other major cerebral small vessel disease (cSVD), is associated with cerebellar ICH (cICH) in deep (white matter, deep nuclei, cerebellar peduncle) regions. We tested the hypothesis that HA-associated neuroimaging markers are significantly associated with deep cICH compared to superficial cICH.

Patients And Methods: Brain MRI scans from consecutive non-traumatic cICH patients admitted to a referral center were analyzed for cSVD markers.

Blood management protocol for baseline anemic patients undergoing hip arthroplasty.

Introduction: Patients undergoing total hip arthroplasty (THA) with preoperative anemia are at higher risk for transfusion. Blood-conserving interventions can reduce perioperative transfusions. This retrospective study evaluates the efficacy and safety of a patient blood management (PBM) protocol in elective primary THA patients with preoperative anemia.

Associations of Global Burden of Diseases study-derived dietary scores with mortality and chronic disease risk: a comprehensive analysis from the prospective NutriNet-Santé study.

The Global Burden of Diseases (GBD) network has proposed theoretical minimum risk exposure level (TMREL) for leading risk factors associated with diet that minimize the risk of morbimortality from chronic diseases. TMREL can be applied to develop follow-up or evaluation indicators in individual studies. The validity of these scores can be tested by assessing associations with health outcomes in prospective cohorts.

Favorable long-term cognitive outcomes following recurrent ARIA linked to amyloid-lowering therapies: two cases.

Introduction: The large-scale approval of anti-amyloid monoclonal antibodies for treating Alzheimer's disease (AD) has raised concerns about their safety due to treatment-emergent amyloid-related imaging abnormalities (ARIA).

Methods: We present two cases of patients diagnosed with mild cognitive impairment due to AD who were enrolled in the GRADUATE I clinical trial. They received subcutaneous gantenerumab every two weeks during the study period.

Curative and preemptive treatment of amputee pain by targeted muscle reinnervation: experience from a French military trauma center.

Introduction: Targeted muscle reinnervation (TMR) is a technique that has proven effective for the treatment and prevention of chronic pain following amputation, though its adoption remains limited. The authors report on their initial experience using TMR.

Methods: A prospective study was conducted in a military trauma center involving traumatic amputees treated with either curative or preemptive TMR.