Liver SMN restoration rescues the Smn mouse model of spinal muscular atrophy.

Background: The liver is a key metabolic organ, acting as a hub to metabolically connect various tissues. Spinal muscular atrophy (SMA) is a neuromuscular disorder whereby patients have an increased susceptibility to developing dyslipidaemia and liver steatosis. It remains unknown whether fatty liver is due to an intrinsic or extrinsic impact of survival motor neuron (SMN) protein depletion.

[Impact of precariousness on breast cancer care in the Île-de-France region: Results of the DESSEIN study].

Introduction: Precariousness has been associated with an increase in breast cancer mortality, but the links between precariousness, stage at diagnosis and care pathways are little explored. The objective of the DESSEIN study was to assess the impact of precariousness on disease and care pathways.

Methods: Prospective observational study in Île-de-France comparing precarious and non-precarious patients consulting for breast cancer and followed for 1 year.

Long term peripheral AAV9-SMN gene therapy promotes survival in a mouse model of spinal muscular atrophy.

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by motor neuron loss and skeletal muscle atrophy. SMA is caused by the loss of the SMN1 gene and low SMN protein levels. Current SMA therapies work by increasing SMN protein in the body.

Optimization of base editors for the functional correction of SMN2 as a treatment for spinal muscular atrophy.

Spinal muscular atrophy (SMA) is caused by mutations in SMN1. SMN2 is a paralogous gene with a C•G-to-T•A transition in exon 7, which causes this exon to be skipped in most SMN2 transcripts, and results in low levels of the protein survival motor neuron (SMN). Here we show, in fibroblasts derived from patients with SMA and in a mouse model of SMA that, irrespective of the mutations in SMN1, adenosine base editors can be optimized to target the SMN2 exon-7 mutation or nearby regulatory elements to restore the normal expression of SMN.

Ramifications of the COVID-19 Pandemic on Nursing Students' Transition to Practice.

As the COVID-19 pandemic altered the course of nursing education worldwide, it disrupted efforts to transition nursing students to professional practice. The investigators examined clinical nursing faculty members' assessment of senior students' practice strengths and challenges compared to graduates of prior years. Findings demonstrated COVID-19's wide-ranging impacts on nursing students' transition to practice and offered suggestions about the implications for nursing professional development practitioners.

Suture versus open mesh repair for small umbilical hernia: Results of a propensity-matched cohort study.

Background: The objective was to compare the outcomes of open mesh repair versus suture repair for small (≤1 cm in diameter) umbilical hernia. The primary endpoint was the 30-day outcomes including pain, and secondary endpoints were the 2-year outcomes including recurrences and patient-reported outcomes.

Methods: This propensity-matched, multicenter study was carried out on data collected prospectively in the Hernia-Club database between 2011 and 2021.

Fibrin monomers evaluation during hospitalization for COVID-19 is a predictive marker of in-hospital mortality.

Background: Coagulopathy is one of the main triggers of severity and worsening of Coronavirus disease 2019 (COVID-19) particularly in critically ill patients. D-dimer has been widely used to detect COVID-19 coagulation disorders and has been correlated with outcomes such as disease severity and in-hospital mortality. Involvement of other fibrin degradation products, particularly fibrin monomers (FM), remains an ongoing question.

Base editing as a genetic treatment for spinal muscular atrophy.

Spinal muscular atrophy (SMA) is a devastating neuromuscular disease caused by mutations in the gene. Despite the development of various therapies, outcomes can remain suboptimal in SMA infants and the duration of such therapies are uncertain. is a paralogous gene that mainly differs from by a C•G-to-T•A transition in exon 7, resulting in the skipping of exon 7 in most transcripts and production of only low levels of survival motor neuron (SMN) protein.

An Innovative Academic/Practice Partnership to Support Nursing Workforce Needs and Student Clinical Education.

Innovation is needed to solve nursing workforce issues during times of crisis. A collaborative effort between a hospital system and several universities resulted in the Bridge to Professional Practice Program that was implemented during a period of high patient volume and nursing student downtime. The program provided support for staffing needs and clinical hours to promote readiness for practice for students.

Lipidomic Profile Analysis of Lung Tissues Revealed Lipointoxication in Pulmonary Veno-Occlusive Disease.

Pulmonary veno-occlusive disease (PVOD) is a rare form of pulmonary arterial hypertension (PAH) occurring in a heritable form (hPVOD) due to biallelic inactivating mutations of (encoding GCN2, general control nonderepressible 2) or in a sporadic form in older age (sPVOD), following exposure to chemotherapy or organic solvents. In contrast to PAH, PVOD is characterized by a particular remodeling of the pulmonary venous system and the obliteration of small pulmonary veins by fibrous intimal thickening and patchy capillary proliferation. The pathobiological knowledge of PVOD is poor, explaining the absence of medical therapy for PVOD.

Ready, Set, Start: Mentoring Graduating Nursing Students During a Pandemic.

Nurses are graduating from educational programs and entering health care systems at a time of great turmoil because of the COVID-19 pandemic. To support the transition to practice, nursing faculty implemented a postgraduation mentorship program (START). This exploratory study sought to describe the faculty mentor and new graduate mentee experience.

The SOCE Machinery: An Unbalanced Knowledge between Left and Right Ventricular Pathophysiology.

Right ventricular failure (RVF) is the most important prognostic factor for morbidity and mortality in pulmonary arterial hypertension (PAH) or pulmonary hypertension (PH) caused by left heart diseases. However, right ventricle (RV) remodeling is understudied and not targeted by specific therapies. This can be partly explained by the lack of basic knowledge of RV remodeling.

D-dimer, BNP/NT-pro-BNP, and creatinine are reliable decision-making biomarkers in life-sustaining therapies withholding and withdrawing during COVID-19 outbreak.

Background: The decision for withholding and withdrawing of life-sustaining treatments (LSTs) in COVID-19 patients is currently based on a collegial and mainly clinical assessment. In the context of a global pandemic and overwhelmed health system, the question of LST decision support for COVID-19 patients using prognostic biomarkers arises.

Methods: In a multicenter study in 24 French hospitals, 2878 COVID-19 patients hospitalized in medical departments from 26 February to 20 April 2020 were included.

Suppression of the necroptotic cell death pathways improves survival in mice.

Spinal muscular atrophy (SMA) is a monogenic neuromuscular disease caused by low levels of the Survival Motor Neuron (SMN) protein. Motor neuron degeneration is the central hallmark of the disease. However, the SMN protein is ubiquitously expressed and depletion of the protein in peripheral tissues results in intrinsic disease manifestations, including muscle defects, independent of neurodegeneration.

Central and peripheral delivered AAV9-SMN are both efficient but target different pathomechanisms in a mouse model of spinal muscular atrophy.

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by loss of the SMN1 gene and low SMN protein levels. Although lower motor neurons are a primary target, there is evidence that peripheral organ defects contribute to SMA. Current SMA gene therapy and clinical trials use a single intravenous bolus of the blood-brain-barrier penetrant scAAV9-cba-SMN by either systemic or central nervous system (CNS) delivery, resulting in impressive amelioration of the clinical phenotype but not a complete cure.

Educating Nursing Students Through the Pandemic: The Essentials of Collaboration.

Introduction: Throughout the COVID-19 pandemic, meeting regulatory educational requirements and graduating students competent for nursing practice was essential. Competent graduates were needed to support a strong nursing workforce in Connecticut during this chaotic time in health care. This paper describes the powerful impact of statewide collaboration toward meeting this goal.

Development of multivalent mRNA vaccine candidates for seasonal or pandemic influenza.

Recent approval of mRNA vaccines for emergency use against COVID-19 is likely to promote rapid development of mRNA-based vaccines targeting a wide range of infectious diseases. Compared to conventional approaches, this vaccine modality promises comparable potency while substantially accelerating the pace of development and deployment of vaccine doses. Already demonstrated successfully for single antigen vaccines such as for COVID-19, this technology could be optimized for complex multi-antigen vaccines.

Relationship Between Body Mass Index and Diagnosis of Obesity in the Military Health System Active Duty Population.

Objective: The overall rate of obesity is rising in the USA; this is also reflected in the military population. It is important that providers appropriately diagnose obesity and discuss treatment options with their patients.The purpose of this study was to investigate diagnosis of obesity compared to documented body mass index (BMI) in the military health system.

Von Willebrand factor collagen-binding capacity predicts in-hospital mortality in COVID-19 patients: insight from VWF/ADAMTS13 ratio imbalance.

Background: Microthrombosis is a hallmark of COVID-19. We previously described von willebrand factor (VWF) and their high molecular weight multimers (HMWMs) as potential trigger of microthrombosis.

Objectives: Investigate VWF activity with collagen-binding assay and ADAMTS13 in COVID-19.