Prognostic role of bone erosion in orbital RMS: a report from the European Pediatric Soft Tissue Sarcoma Study Group (EpSSG).

Background: Orbital rhabdomyosarcoma (RMS) is often limited to the orbital cavity and has a favorable prognosis. In some cases, the tumor can erode the orbital bone and behave as a parameningeal RMS (PM-RMS); thus, it is treated more intensively. However, the current protocols do not provide any guidance on how to consider different grades of bone erosion (BE) that can vary widely, hampering a uniform classification and the subsequent treatment assignment.

Fumagillin Shortage: How to Treat Microsporidiosis in Solid Organ Transplant Recipients in 2024?

Unlabelled: Intestinal microsporidiosis caused by is an opportunistic infection that especially affects solid organ transplant (SOT) recipients. Management revolves around tapering the immunosuppressive regimen and/or using a specific anti-microsporidia treatment, but only fumagillin has demonstrated efficacy for treatment of this infection. Since fumagillin has been commercially discontinued, nitazoxanide is increasingly being used in this indication.

Developmental origins of natural sound perception.

Infants are exposed to a myriad of sounds early in life, including caregivers' speech, songs, human-made and natural (non-anthropogenic) environmental sounds. While decades of research have established that infants have sophisticated perceptual abilities to process speech, less is known about how they perceive natural environmental sounds. This review synthesizes current findings about the perception of natural environmental sounds in the first years of life, emphasizing their role in auditory development and describing how these studies contribute to the emerging field of human auditory ecology.

Prevalence of anxiety symptoms and associated factors at 2 months postpartum, results from a 2021 French national prospective cohort study.

Background: Postpartum anxiety (PPA) symptoms have harmful effects on child development and mother-infant interactions. Accordingly, in-depth knowledge of associated risk factors is crucial for prevention policies. This study aimed to estimate PPA symptom prevalence at 2 months and to identify associated risk factors in a representative sample of all women who gave birth in France in 2021, and in two subgroups: women with no postpartum depression (PPD) symptoms, and those with no history of mental health care.

ALDH Enzymes and Hematological Diseases: A Scoping Review of Literature.

Aldehyde dehydrogenases (ALDHs) constitute a group of enzymes that catalyze the oxidation of aldehydes to carboxylic acids. The human ALDH superfamily, including 19 different isoenzymes (ALDH1A1, ALDH1A2, ALDH1A3, AHDH1B1, ALDH1L1, ALDH1L2, ALDH2, ALDH3A1, ALDH3A2, ALDH3B1, ALDH3B2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDH8A1, ALDH9A1, ALDHA16A1, ALDH18A1), displays different key physiological and toxicological functions, with specific tissue expression and substrate specificity. Several studies have established that ALDH are interesting markers for the identification and quantification of human hematopoietic stem cells and cancer stem cells, notably leukemic stem cells.

Perceived climate risk and stock prices: An empirical analysis of pricing effects.

Increasing awareness of climate change and its potential consequences on financial markets has led to interest in the impact of climate risk on stock returns and portfolio composition, but few studies have focused on perceived climate risk pricing. This study is the first to introduce perceived climate risk as an additional factor in asset pricing models. The perceived climate risk is measured based on the climate change sentiment of the Twitter dataset with 16 million unique tweets in the years 2010-2019.

The effect of automated insulin delivery system use on diabetes distress in people with type 1 diabetes and their caregivers: A systematic review and meta-analysis.

Aims: Diabetes distress (DD) is prevalent among people with diabetes. While automated insulin delivery systems (AIDs) improve glycaemic control, their impact on DD is unclear. We aimed to investigate the effect of AIDs on DD in people with diabetes and their caregivers.

Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.

Diagnostic wandering and delayed management are major issues in rare diseases. Here, we report a new Next-Generation Phenotyping (NGP) model for diagnosing Coffin Siris syndrome (CSS) on clinical photographs among controls and distinguish the different genotypes. This retrospective and prospective study, conducted from 1998 to 2023, included frontal and lateral pictures of confirmed CSS.

Characterisation and hierarchy of the spermatogonial stem cell compartment in human spermatogenesis by spectral cytometry using a 16-colors panel.

About one in six couples experience fertility problems, and male infertility accounts for about half of these cases. Spermatogenesis originates from a small pool of spermatogonial stem cells (SSCs), which are of interest for the treatment of infertility but remain poorly characterised in humans. Using multiparametric spectral flow cytometric analysis with a 16-colours (16-C) panel of cell markers, we identify novel markers of SSCs and provide insights into unravelling and resolving the heterogeneity of the human spermatogonial cells.

Centenarians-the way to healthy vascular ageing and longevity: a review from VascAgeNet.

The prevalence of centenarians, people who lived 100 years and longer, is steadily growing in the last decades. This exceptional longevity is based on multifaceted processes influenced by a combination of intrinsic and extrinsic factors such as sex, (epi-)genetic factors, gut microbiota, cellular metabolism, exposure to oxidative stress, immune status, cardiovascular risk factors, environmental factors, and lifestyle behavior. Epidemiologically, the incidence rate of cardiovascular diseases is reduced in healthy centenarians along with late onset of age-related diseases compared with the general aged population.

Recommendations on supporting neonatology healthcare givers from the French National Society.

Aim: Healthcare givers are exposed to stress and therefore are at risk of the development of pathologies. We aimed to provide recommendations regarding psychosocial risks such as stress, moral distress, burnout syndrome or secondary stress syndrome in neonatal care units to best support neonatal healthcare givers.

Methods: We searched PubMed for articles published from 1 January 2017 to 1 December 2023 by using the keywords burnout OR (moral and distress) AND neonatal unit.

SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.

The molecular diagnosis of type 1 facioscapulohumeral muscular dystrophy (FSHD1) relies on the detection of a shortened D4Z4 array at the 4q35 locus. Until recently, the diagnosis of FSHD2 relied solely on the absence of a shortened D4Z4 allele in clinically affected patients. It is now established that most FSHD2 cases carry a heterozygous variant in the SMCHD1 gene.

A multimodal neuroimaging study of youth at risk for substance use disorders: Functional magnetic resonance imaging and [F]fallypride positron emission tomography.

Background: Adolescent alcohol use is the norm, but only some develop a substance use disorder. The increased risk might reflect heightened mesocorticolimbic responses to reward-related cues but results published to date have been inconsistent.

Methods: Young social drinkers (age 18.

Biofeedback rehabilitation in children with encopresis due to retentive constipation using simple tools: a real-world study in a French paediatric centre.

This study aimed to describe the effectiveness of biofeedback (BFB) rehabilitation in children with retentive encopresis (RE). A retrospective, single-institution study was conducted in children with BFB sessions for RE between 2017 and 2020. Manometry data and associated envy scores were analysed.

Prevalence and characterization of Staphylococcus aureus isolated from meat and milk in Northeastern Italy.

Staphylococcus aureus is a pathogenic microorganism often found in animal-derived foods and is known for its ability to readily develop resistance to antibiotic treatments. This study was designed to determine prevalence of S. aureus strains in raw milk and meat in Italy and to evaluate their antibiotic resistance profiles and biofilm production.

Cholera outbreak in Mayotte (France): A retrospective description of 16 patients treated for hypovolemia in the ICU.

Objectives: To describe the presentation and therapeutic management of severe cholera in Mayotte (France).

Patients And Methods: We carried out retrospective data collection. All patients treated in the intensive care unit (ICU) with a confirmed diagnosis of cholera by PCR were studied.

New diseases linked to MEFV variants or pyrinopathies.

Autoinflammatory diseases (AIDs) are characterized by dysregulation of innate immunity, leading to systemic inflammation. Familial Mediterranean fever (FMF) is the most common AID, associated with variants in exon 10 of MEFV. This gene codes for pyrin, a key protein in the inflammasome of the same name, involved in the innate immune response.

In Obesity, Esophagogastric Junction Fat Impairs Esophageal Barrier Function and Dilates Intercellular Spaces via HIF-2α.

Background & Aims: Dilated intercellular space (DIS) in esophageal epithelium, a sign of impaired barrier function, is a characteristic finding of GERD that also is found in obese patients without GERD. We have explored molecular mechanisms whereby adipose tissue products might impair esophageal barrier integrity.

Methods: We established cultures of visceral fat obtained during foregut surgery from obese and non-obese patients.

The translocator protein 18 kDa (TSPO) ligand etifoxine in an animal model of anxiety: line- and sex-dependent effects on emotionality, stress reactivity, spine density, oxytocin receptors, steroids, and microbiome composition.

The treatment of stress-related disorders such as anxiety and depression is still challenging. One potential therapeutical option are neurosteroids. Their synthesis is promoted by ligands of the mitochondrial translocator protein 18 kDa (TSPO).

Predicting Consanguinity Rates from Exome Sequencing Data in the Lebanese Population.

Consanguinity, prevalent in certain populations due to cultural and social factors, significantly increases the risk of genetic autosomal recessive (AR) disorders. In Lebanon, consanguineous marriages constitute 35.5% of unions, with first cousin marriages being the most common.