Hepatic sarcoidosis with symptomatic portal hypertension: A report of 12 cases with review of the literature.

Introduction: Sarcoidosis is a systemic granulomatosis of unknown etiology, characterized by the presence of immune granulomas. Liver damage is a relatively common extra-pulmonary manifestation, occurring in 3.6-30% of cases.

Screening and management of portal hypertension in advanced hepatocellular carcinoma: A French practice survey.

Background: Portal hypertension (PHT) and hepatocellular carcinoma (HCC) are two major complications of cirrhosis that are closely linked and impact patients prognosis, particularly acute variceal bleeding (AVB). Therefore, PHT screening and AVB prophylaxis are major issues to improve the outcome of the patients, but practices may vary among physicians.

Methods: We submitted hepatologists, gastroenterologists and digestive oncologists to a questionnaire of 70 items about PHT screening and management to evaluate their practice.

Apyrexia improves the prognostic value of quick SOFA in older patients with acute pneumonia or bacteremic urinary tract infection.

Purpose: Apyrexia is increasingly recognized as an indicator of inadequate inflammatory response in older patients with suspected infection. We aimed to evaluate whether temperature at admission could improve the prognostic value of the Quick Sequential Organ Failure Assessment (qSOFA) for predicting in-hospital mortality after acute infection.

Methods: We created a new score, named qSOFAGE (qSOFA in GEriatrics), by adding apyrexia as an item to the existing qSOFA (+ 1 point if temperature at admission ≤ 38 °C).

[A territory project for the follow-up of strokes and myocardial infarctions].

The Dijon Vascular Project experiment aims to reduce the risk of unscheduled re-hospitalization for stroke and myocardial infarction. It involves hospital and private healthcare professionals working in the Côte-d'Or and South Haut-Marnais hospital grouping area. Within this system, hospital and private practice nurses are essential links in the patient's circle of care and fundamental contacts for post-stroke or post-MI follow-up: through their interventions, they contribute to preventing the risks of complications and recurrences.

Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder.

Deoxyhypusine hydroxylase (DOHH) is the enzyme catalyzing the second step in the post-translational synthesis of hypusine [N-(4-amino-2-hydroxybutyl)lysine] in the eukaryotic initiation factor 5A (eIF5A). Hypusine is formed exclusively in eIF5A by two sequential enzymatic steps catalyzed by deoxyhypusine synthase (DHPS) and deoxyhypusine hydroxylase (DOHH). Hypusinated eIF5A is essential for translation and cell proliferation in eukaryotes, and all three genes encoding eIF5A, DHPS, and DOHH are highly conserved throughout eukaryotes.

Impact of methodological choices in comparative effectiveness studies: application in natalizumab versus fingolimod comparison among patients with multiple sclerosis.

Background: Natalizumab and fingolimod are used as high-efficacy treatments in relapsing-remitting multiple sclerosis. Several observational studies comparing these two drugs have shown variable results, using different methods to control treatment indication bias and manage censoring. The objective of this empirical study was to elucidate the impact of methods of causal inference on the results of comparative effectiveness studies.

Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

Prenatal exome sequencing could be complex because of limited phenotypical data compared to postnatal/portmortem phenotype in fetuses affected by multiple congenital abnormalities (MCA). Here, we investigated limits of prenatal phenotype for ES interpretation thanks to a blindly reanalysis of postmortem ES data using prenatal data only in fetuses affected by MCA and harboring a (likely)pathogenic variant or a variant of unknown significance (VUS). Prenatal ES identified all causative variant previously reported by postmortem ES (22/24 (92%) and 2/24 (8%) using solo-ES and trio-ES respectively).

New horizons in Type 2 myocardial infarction: pathogenesis, assessment and management of an emerging geriatric disease.

Type 2 myocardial infarction (MI) is characterised by a functional imbalance between myocardial oxygen supply and demand in the absence of a thrombotic process, leading to myocardial necrosis. This type of MI was relatively unknown among clinicians until the third universal definition of MI was published in 2017, differentiating Type 2 from Type 1 MI, which follows an acute atherothrombotic event. The pathogenesis, diagnostic and therapeutic aspects of Type 2 MI are described in the present review.

Impact of the COVID-19 pandemic on the mental health of professionals in 77 hospitals in France.

The COVID-19 pandemic has led to significant re-organisation of healthcare delivery in hospitals, with repercussions on all professionals working in healthcare. We aimed to assess the impact of the pandemic on the mental health of professionals working in health care institutions and to identify individual and environmental factors influencing the risk of mental health disorders. From 4 June to 22 September 2020, a total of 4370 professionals responded to an online questionnaire evaluating psychological distress, severity of post-traumatic stress symptoms, stress factors, and coping strategies.

Dermatoscopic and clinical features of congenital or congenital-type nail matrix nevi: A multicenter prospective cohort study by the International Dermoscopy Society.

Background: Congenital nail matrix nevi (NMN) are difficult to diagnose because they feature clinical characteristics suggestive of adult subungual melanoma. Nail matrix biopsy is difficult to perform, especially in children.

Objective: To describe the initial clinical and dermatoscopic features of NMN appearing at birth (congenital) or after birth but before the age of 5 years (congenital-type).

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical impacts of genomic variation may involve unique, disorder-specific, genomic DNA methylation episignatures. In this study, we describe 19 novel episignature disorders and compare the findings alongside 38 previously established episignatures for a total of 57 episignatures associated with 65 genetic syndromes.

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.

Purpose: Haploinsufficiency of PSMD12 has been reported in individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), facial dysmorphism, and congenital malformations, defined as Stankiewicz-Isidor syndrome (STISS). Investigations showed that pathogenic variants in PSMD12 perturb intracellular protein homeostasis. Our objective was to further explore the clinical and molecular phenotypic spectrum of STISS.

[The clinical practice of the psychologist in intensive care].

The intensive care psychologist was strongly mobilised during the COVID-19 health crisis. His clinical practice is both specific, with regard to the situations of extreme suffering that he is led to encounter, but also plural, as he is faced with the intersecting vulnerabilities of patients, families and carers.

[Intensive care nurse in 2021, from expertise to recognition].

The profession of intensive care nurse has been in constant evolution since the 1960s. The technical nature of medical equipment and the care of increasingly complex patients require a high level of qualification. The current health crisis has highlighted the difficulties of this profession and the lack of recognition of these carers.

Outcomes of the Composite Anterolateral Thigh Flap for Perineal Reconstruction After Postoncological Abdominoperineal Resection.

Background: The vertical rectus abdominis flap is considered the gold standard in perineal reconstruction after oncological abdominoperineal resection; however, it has a nonnegligible donor site morbidity. The anterolateral thigh flap offers reliable soft tissue coverage.

Objective: The aim was to analyze long-term outcomes of composite anterolateral thigh-vastus lateralis flaps in oncological abdominoperineal resections.

Progression-free survival on endocrine therapy, before or after chemotherapy, in hormone receptor-positive HER2-negative metastatic breast cancer.

Purpose: A major question when treating HR+/HER2- metastatic breast cancer (MBC) is whether early introduction of chemotherapy (CT) increases endocrine resistance. We aimed to describe progression-free survival (PFS) under first endocrine therapy (ET) depending on whether given before or after CT in a large nationwide cohort, in the pre-CDK era.

Methods: The real-life retrospective ESME database includes all patients with MBC whose first-line treatment was initiated between 2008 and 2014 in one of the 18 French Comprehensive Cancer Centres.

Do frozen embryo transfers modify the epigenetic control of imprinted genes and transposable elements in newborns compared with fresh embryo transfers and natural conceptions?

Objective: To determine whether the epigenetic control of imprinted genes (IGs) and transposable elements (TEs) differs at birth between fresh or frozen embryo transfers and natural conceptions.

Design: Prospective study.

Setting: University hospital.

[EDS and diagnosis of cardiogenic pulmonary oedema].

Acute cardiogenic pulmonary oedema in the elderly does not differ fundamentally from that seen in the young patient. Appropriate pathways must be established, with regular nursing follow-up, to enable rapid detection and treatment of episodes of acute heart failure. The paramedical team plays an essential role in liaising with families, providing nursing care and listening to the patient at the bedside.

Gender Differences in Idiopathic Pulmonary Fibrosis: Are Men and Women Equal?

Idiopathic pulmonary fibrosis (IPF) is characterized by a male predominance. The aim of the study was to explore gender differences in a well-designed French multicentre prospective IPF cohort (COhorte FIbrose, COFI) with a 5-year follow-up. Between 2007 and 2010, 236 patients with incident IPF were included in COFI.