From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

Purpose: Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there are very few descriptions in the literature of patients carrying biallelic variants in SPAST.

Methods: Targeted Sanger sequencing, panel sequencing and exome sequencing were used to identify the genetic causes in 9 patients from 6 unrelated families with symptoms of HSP or infantile neurodegenerative disorder.

CD57 EMRA CD8 T cells in cancer patients over 70: associations with prior chemotherapy and response to anti-PD-1/PD-L1 therapy.

Background: Immune ageing complicates cancer treatment in older individuals. While immunotherapy targeting the PD-1/PD-L1 pathway can reinvigorate T cells, these cells tend to become senescent with age. This study investigates different CD8 T cell subsets usually associated with senescence, in cancer patients over 70 years old who are undergoing anti-PD-1/PD-L1 immunotherapy, and examines the relationship between these senescent cells and prior chemotherapy exposure.

From cells to recapture rates: responses and recovery of a wild fish after an experimental exposure to a widely used herbicide.

Freshwater environments are biodiversity hotspots under multiple pressures, including pesticide exposure. S-metolachlor, a widely used herbicide, can induce genotoxic, cytotoxic and physiological effects in captive fish, but we have a limited understanding of the effects of exposure to S-metolachlor in free-living vertebrates. We carried out an original field experiment using integrative approaches across biological levels and temporal scales.

Comparative evaluation of feature reduction methods for drug response prediction.

Personalized medicine aims to tailor medical treatments to individual patients, and predicting drug responses from molecular profiles using machine learning is crucial for this goal. However, the high dimensionality of the molecular profiles compared to the limited number of samples presents significant challenges. Knowledge-based feature selection methods are particularly suitable for drug response prediction, as they leverage biological insights to reduce dimensionality and improve model interpretability.

Expression of Yes-associated protein in endothelial cells of human corneas before and after storage in organ culture.

The cornea, the anterior meniscus-shaped transparent and refractive structure of the eyeball, is the first mechanical barrier of the eye. Its functionality heavily relies on the health of its endothelium, its most posterior layer. The treatment of corneal endothelial cells (CECs) deficiency is allogeneic corneal graft using stored donor corneas.

Genetic epidemiology of amyotrophic lateral sclerosis in Cyprus: a population-based study.

Amyotrophic lateral sclerosis (ALS) is a devastating, uniformly lethal degenerative disease of motor neurons, presenting with relentlessly progressive muscle atrophy and weakness. More than fifty genes carrying causative or disease-modifying variants have been identified since the 1990s, when the first ALS-associated variant in the gene SOD1 was discovered. The most commonly mutated ALS genes in the European populations include the C9orf72, SOD1, TARDBP and FUS.

Remote disruption of intestinal homeostasis by Mycobacterium abscessus is detrimental to Drosophila survival.

Mycobacterium abscessus (Mabs), an intracellular and opportunistic pathogen, is considered the most pathogenic fast-growing mycobacterium, and causes severe pulmonary infections in patients with cystic fibrosis. While bacterial factors contributing to its pathogenicity are well studied, the host factors and responses that worsen Mabs infection are not fully understood. Here, we report that Mabs systemic infection alters Drosophila melanogaster intestinal homeostasis.

Remote sensing of mercury sodium exospheric patterns in relation to particle precipitation and interplanetary magnetic field.

The ground-based solar telescope THEMIS performed several observations of Mercury's sodium exosphere in years 2011-2013, when the MESSENGER spacecraft was orbiting around the planet. Typical two-peak exospheric patterns were frequently identified. In previous studies, some specific cases of THEMIS Na two-peak observations were characterized and related to IMF conditions, during specific extreme cases, in the occasion of CME arrival.

Nitazoxanide controls virus viability through its impact on membrane bioenergetics.

Viruses are dependent on cellular energy metabolism for their replication, and the drug nitazoxanide (Alinia) was shown to interfere with both processes. Nitazoxanide is an uncoupler of mitochondrial oxidative phosphorylation (OXPHOS). Our hypothesis was that mitochondrial uncoupling underlies the antiviral effects of nitazoxanide.

A new gas lift allocation method in the IoT environment using a hybrid optimization algorithm.

In the realm of petroleum extraction, well productivity declines as reservoirs deplete, eventually reaching a point where continued extraction becomes economically unfeasible. To counteract this, artificial lift techniques are employed, with gas injection being a prevalent method. Ideally, unrestricted gas injection could maximize oil output.

The Financial Burden of Localized and Metastatic Bladder Cancer.

Background And Objective: Bladder cancer (BCa) imposes a substantial economic burden on health care systems and patients. Understanding these financial implications is crucial for effective resource allocation and optimization of treatment cost effectiveness. Here, we aim to systematically review and analyze the financial burden of BCa from the health care and patient perspectives.

The endoplasmic reticulum as a cradle for virus and extracellular vesicle secretion.

Extracellular vesicles (EVs) are small membranous carriers of protein, lipid, and nucleic acid cargoes and play a key role in intercellular communication. Recent work has revealed the previously under-recognized participation of endoplasmic reticulum (ER)-associated proteins (ERAPs) during EV secretion, using pathways reminiscent of viral replication and secretion. Here, we present highlights of the literature involving ER/ERAPs in EV biogenesis and propose mechanistic parallels with ERAPs exploited during viral infections.

Gastrointestinal Endoscopy.

This review explores the application of gastrointestinal endoscopy in exotic animals, a field with unique challenges due to the diverse anatomic and physiologic characteristics of species such as small mammals, birds, reptiles, and amphibians. The study outlines its indications, including diagnostic and therapeutic purposes, and discusses the specific equipment and techniques required. Despite the technical difficulties and anesthesia risks associated with these procedures, gastrointestinal endoscopy remains a valuable tool in exotic animal medicine.

Trends in the survival of very preterm infants between 2011 and 2020 in France.

Objective: The objective is to evaluate changes in survival to discharge of liveborn infants less than 32 weeks' gestational age (GA) in France, where the latest available data on very preterm survival at a national-level are from the EPIPAGE-2 cohort in 2011.

Design: Population-based cohort study.

Setting: Metropolitan France in 2011, 2015 and 2020.

Upregulation of haematopoetic cell kinase (Hck) activity by a secreted parasite effector protein (Ta9) drives proliferation of Theileria annulata-transformed leukocytes.

Reversible transformation of bovine leukocytes by the intracellular parasites Theileria annulata and Theileria parva is central to pathogenesis of the diseases they cause, tropical theileriosis and East Coast Fever, respectively. Parasite-dependent constitutive activation of major host transcription factors such as AP-1 (Activating Protein 1) and NF-κB (Nuclear Factor-Kappa B) sustains the transformed state. Although parasite interaction with host cell signaling pathways upstream of AP-1 have been studied, the precise contribution of Theileria encoded factors capable of modulating of AP-1 transcriptional activity, and other infection-altered signaling pathways is not fully understood.

TFEB triggers a matrix degradation and invasion program in triple-negative breast cancer cells upon mTORC1 repression.

The phosphatidylinositol 3-kinase (PI3K)/AKT/mammalian target of rapamycin (mTOR) pathway is frequently hyperactivated in triple-negative breast cancers (TNBCs) associated with poor prognosis and is a therapeutic target in breast cancer management. Here, we describe the effects of repression of mTOR-containing complex 1 (mTORC1) through knockdown of several key mTORC1 components or with mTOR inhibitors used in cancer therapy. mTORC1 repression results in an ∼10-fold increase in extracellular matrix proteolytic degradation.

Development of a New Score Based on Image Defined Risk Factors to Standardize Surgical Risk in Neuroblastoma Resection - A SIOPEN Collaborative Study.

Background And Aims: Image Defined Risk Factors (IDRFs) assess surgical risk in neuroblastoma (NB) and guide neoadjuvant therapy. Despite chemotherapy IDRFs may persist in 70 % of cases. Several studies have suggested that not all IDRFs hold equal significance and that the presence of an IDRF does not inherently signify unresectability.

Assessment of microvascular flow in human atherosclerotic carotid plaques using ultrasound localization microscopy.

Background: Neovascularisation of carotid plaques contributes to their vulnerability. Current imaging methods such as contrast-enhanced ultrasound (CEUS) usually lack the required spatial resolution and quantification capability for precise neovessels identification. We aimed at quantifying plaque vascularisation with ultrasound localization microscopy (ULM) and compared the results to histological analysis.

The Grotte du Bison Neandertals (Arcy-sur-Cure, France).

The Grotte du Bison, in Arcy-sur-Cure (Yonne, France), yielded a large assemblage of 49 Neandertal remains from late Mousterian layers, offering critical insights for the study of Middle to Upper Paleolithic populations of Western Europe. Previous studies described the external morphology of 13 isolated teeth and a partial maxilla. Building on this previous work, the current study provides further descriptions and analyses of the remains, including one postcranial fragment, six cranial fragments, two maxillary fragments, and 40 isolated teeth.

The walnut tree as a source of progesterone for reproductive control in goats.

Intravaginal sponges impregnated with the progesterone (P4) analogue fluorogestone acetate (FGA) induce synchronous oestrous behaviour and normal ovulatory cycle in goats. To explore alternatives using natural P4 from plants, we developed a method of ethanolic extraction and a specific enzyme immunoassay (EIA) to measure P4 in the different parts of the walnut tree Juglans regia. We found a very high concentration of P4, specifically in the leaves of the three most common French varieties (∼100 mg/kg of DM) but not in flowers, fruits, septa, husk, oil or cake.

Implementing digital respiratory technologies for people with respiratory conditions: A protocol for a scoping review.

The value of 'data-enabled', digital healthcare is evolving rapidly, as demonstrated in the COVID-19 pandemic, and its successful implementation remains complex and challenging. Harmonisation (within/between healthcare systems) of infrastructure and implementation strategies has the potential to promote safe, equitable and accessible digital healthcare, but guidance for implementation is lacking. Using respiratory technologies as an example, our scoping review process will capture and review the published research between 12th December 2013 to 12th December 2023.

Barriers to social participation for people with disabilities in NTD-endemic areas of Benin and Côte d'Ivoire: Assessing scope and associated factors.

People with disabilities (PWDs) due to neglected tropical diseases (NTDs) or other causes experience restrictions on social participation (RSPs). This study aimed to investigate the magnitude of these restrictions and associated factors in NTD-endemic communities in Benin and Côte d'Ivoire. This cross-sectional quantitative and qualitative study was conducted from 2021 to 2022 among 841 people with disabilities (PWDs) and 90 community members and stakeholders.

Integrative systems-level analysis reveals a contextual crosstalk between hypoxia and global metabolism in human breast tumors.

Hypoxia is known to induce reprogramming of glucose metabolism in cancer. However, the impact of hypoxia on global metabolism remains poorly understood. Here, using the systems approach, we evaluated the potential crosstalk between hypoxia and global metabolism using data from > 2000 breast tumors.