Li-Fraumeni syndrome: a germline splice variant reveals a novel physiological alternative transcript.

Background: Li-Fraumeni syndrome (LFS) predisposes individuals to a wide range of cancers from childhood onwards, underscoring the crucial need for accurate interpretation of germline variants for optimal clinical management of patients and families. Several unclassified variants, particularly those potentially affecting splicing, require specialised testing. One such example is the NM_000546.

Functional and Molecular Characterization of New Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1).

Hereditary sensory and autonomic neuropathy type 1 is an autosomal dominant neuropathy caused by the or variants. These variants modify the preferred substrate of serine palmitoyl transferase, responsible for the first step of sphingolipids synthesis, leading to accumulation of cytotoxic deoxysphingolipids. Diagnosis of HSAN1 is based on clinical symptoms, mainly progressive loss of distal sensory keep, and genetic analysis.

Omicron Wave SARS-CoV-2 Diagnosis: Evaluation of Saliva, Anterior Nasal, and Nasopharyngeal Swab Samples.

The Omicron variant differs from earlier strains of SARS-CoV-2 in the way it enters host cells and grows . We therefore reevaluated its diagnosis using saliva, nasopharyngeal swab (NPs), and anterior nasal swab (ANs) specimens from 202 individuals (64.9% symptomatic) tested at the Toulouse University Hospital SARS-CoV-2 drive-through testing center.

Lipids in cancer: a global view of the contribution of lipid pathways to metastatic formation and treatment resistance.

Lipids are essential constituents for malignant tumors, as they are absolutely required for tumor growth and dissemination. Provided by the tumor microenvironment (TME) or by cancer cells themselves through activation of de novo synthesis pathways, they orchestrate a large variety of pro-tumorigenic functions. Importantly, TME cells, especially immune cells, cancer-associated fibroblasts (CAFs) and cancer-associated adipocytes (CAAs), are also prone to changes in their lipid content, which hinder or promote tumor aggressiveness.

CD9 mediates the uptake of extracellular vesicles from cancer-associated fibroblasts that promote pancreatic cancer cell aggressiveness.

In pancreatic ductal adenocarcinoma (PDAC), signaling from stromal cells is implicated in metastatic progression. Tumor-stroma cross-talk is often mediated through extracellular vesicles (EVs). We previously reported that EVs derived from cancer-associated stromal fibroblasts (CAFs) that are abundant in annexin A6 (ANXA6 EVs) support tumor cell aggressiveness in PDAC.

Ketogenic HMG-CoA lyase and its product β-hydroxybutyrate promote pancreatic cancer progression.

Pancreatic ductal adenocarcinoma (PDA) tumor cells are deprived of oxygen and nutrients and therefore must adapt their metabolism to ensure proliferation. In some physiological states, cells rely on ketone bodies to satisfy their metabolic needs, especially during nutrient stress. Here, we show that PDA cells can activate ketone body metabolism and that β-hydroxybutyrate (βOHB) is an alternative cell-intrinsic or systemic fuel that can promote PDA growth and progression.

Meeting report of the 4th biennial Metabolism and Cancer symposium.

The 4th International meeting Metabolism and Cancer initially programed to take place in Bordeaux (France) was held virtually on May 27-29, 2021. The three-day event was followed by around 600 participants daily from 47 countries around the world. The meeting hosted 21 speakers including selected talks and a keynote lecture from the Nobel Prize winner Sir Peter J.

LDL receptor-peptide conjugate as in vivo tool for specific targeting of pancreatic ductal adenocarcinoma.

Despite clinical advances in diagnosis and treatment, pancreatic ductal adenocarcinoma (PDAC) remains the third leading cause of cancer death, and is still associated with poor prognosis and dismal survival rates. Identifying novel PDAC-targeted tools to tackle these unmet clinical needs is thus an urgent requirement. Here we use a peptide conjugate that specifically targets PDAC through low-density lipoprotein receptor (LDLR).

Comparing quantile regression methods for probabilistic forecasting of NO pollution levels.

High concentration episodes for NO2 are increasingly dealt with by authorities through traffic restrictions which are activated when air quality deteriorates beyond certain thresholds. Foreseeing the probability that pollutant concentrations reach those thresholds becomes thus a necessity. Probabilistic forecasting, as oposed to point-forecasting, is a family of techniques that allow for the prediction of the expected distribution function instead of a single future value.

[Recovery after gynaecological surgery in French-speaking Belgium : survey and recommendation of the GGOLFB surgical working group].

Since the introduction of laparoscopy and mini-invasive techniques, gynaecological surgery has largely evolved. However, post-operative recommendations still remain very restrictive with poor evidence from literature. The survey, performed by the GGOLFB surgical working group, shows that the post-operative advices to the patients are very heterogeneous for the sick leave period as for more specific advices like the period of disallowance of sexual intercourse, bathing and weightlifting.

Oncogene-Induced Senescence Limits the Progression of Pancreatic Neoplasia through Production of Activin A.

Pancreatic ductal adenocarcinoma (PDAC) is a deadly and aggressive cancer. Understanding mechanisms that drive preneoplastic pancreatic lesions is necessary to improve early diagnostic and therapeutic strategies. Mutations and inactivation of activin-like kinase (ALK4) have been demonstrated to favor PDAC onset.

Role of amino acids in regulation of ROS balance in cancer.

Cancer cells display increased oxidative stress from reactive oxygen species (ROS) and constantly have to counteract them below a tolerable threshold to avoid any toxicity due to overload of ROS. The involvement of ROS in cancer progression from precursor lesions to aggressive tumor and metastasis formation is still debated, but it is recognized that cancer cells succeed to use ROS for their own benefit in circumstances that are tumor cell-type specific. In this review, we focus on amino acids' metabolic pathways that tumor cells activate as antioxidants including cysteine, methionine metabolisms and their connection with the folate, transulfuration pathways and ferroptosis.

Does enhanced recovery improve the survival rates of patients 3 years after undergoing surgery to remove a tumor in the colon?

Purpose: The advantages of enhanced recovery programs (ERP) after colorectal surgery for morbidity and length of stay are well known. On a longer term, evidence is much more limited. The aim of this study is to determine the impact of ERP on survival after 3 years of follow-up, following colorectal cancer surgery.

[Prolapse and urinary incontinence in women : place of the general practitioner].

The ageing of the population, having access to good quality of care, will result in an increase in the prevalence of pelvic floor diseases. Those persons, often in good general health, may experience difficulties in accepting functional pathologies, associated with loss in quality of life. One out of 2 women will have a pelvic floor problem and 1 out of 9 will have a surgical perineal procedure before the age of 80 years.