Gaucher emergency

Antenatal classes have evolved considerably and include now a discussion of the parents' birth plan. Respecting this plan normally results in a better childbirth experience, an important protective factor of post-traumatic stress disorder following childbirth (PTSD-FC). Antenatal class attendance may thus be associated with lower PTSD-FC rates. This cross-sectional study took place at a Swiss university hospital. All primiparous women who gave birth to singletons from 2018 to 2020 were invited to answer self-reported questionnaires...

BACKGROUND: Neuronopathic Gaucher Disease (nGD) describes the condition of a subgroup of patients with the Lysosomal Storage Disorder (LSD), Gaucher disease with involvement of the central nervous system (CNS) which results from inherited deficiency of β-glucosylceramidase. Although systemic manifestations of disease are now corrected by augmentation with macrophage-targeted therapeutic enzyme (enzyme replacement therapy, ERT), neurological disease progresses unpredictably as a result of failure of therapeutic enzyme to cross the blood-brain barrier (BBB)...

BACKGROUND: This study's objective was to examine emergency department (ED) workers' perspectives during the Canadian COVID-19 first wave. METHODS: This qualitative study included workers from nine Canadian EDs who participated in 3 monthly video focus groups between April and July 2020 to explore (1) personal/professional experiences, (2) patient care and ED work, (3) relationships with teams, institutions and governing bodies. Framework analysis informed data collection and analysis...

BACKGROUND: Mutations in the GBA gene cause Gaucher's disease (GD) and constitute the most frequent genetic risk factor for idiopathic Parkinson's disease (iPD). Nonmanifesting carriers of GBA mutations/variants (GBA-NMC) constitute a potential PD preclinical population, whereas PD patients carrying some GBA mutations/variants (GBA-PD) have a higher risk of a more aggressive disease course. Different neuroimaging techniques are emerging as potential biomarkers in PD and have been used to study GBA-associated parkinsonism...

Parkinson's disease (PD) is the second most common neurodegenerative disease and is characterized by multiple motor and non-motor symptoms. Mutations in the glucocerebrosidase ( GBA ) gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase), which hydrolyzes glucosylceramide (GlcCer) to glucose and ceramide, are the most important and common genetic PD risk factors discovered to date. Homozygous GBA mutations result in the most common lysosomal storage disorder, Gaucher's disease (GD), which is classified according to the presence (neuronopathic types, type 2 and 3 GD) or absence (non-neuronopathic type, type 1 GD) of neurological symptoms...

BACKGROUND: Limited real-world data from routine clinical care are available on the safety and effectiveness of treatment with taliglucerase alfa in patients with Gaucher disease (GD). METHODS: Taliglucerase Alfa Surveillance (TALIAS), a multinational prospective Drug Registry of patients with GD, was established to evaluate the long-term safety (primary objective) and effectiveness (secondary objective) of taliglucerase alfa. We present an interim analysis of the data from the Drug Registry collected over the 5-year period from September 2013 to January 2019...

OBJECTIVE: To evaluate diagnostic and therapeutic practices and then establish a consensus on the management of ocular toxoplasmosis in France through a Delphi study. MATERIALS AND METHODS: Twenty-three French experts in ocular toxoplasmosis were invited to respond to a modified Delphi study conducted online, in the form of two questionnaires, in an attempt to establish a consensus on the diagnosis and management of this pathology. The threshold for identical responses to reach consensus was set at 70 %...

Lipid-related disorders, which primarily affect metabolic tissues, including adipose tissue and the liver are associated with alterations in lysosome homeostasis. Obesity is one of the more prevalent diseases, which results in energy imbalance within metabolic tissues and lysosome dysfunction. Less frequent diseases include Niemann-Pick type C (NPC) and Gaucher diseases, both of which are known as Lysosomal Storage Diseases (LSDs), where lysosomal dysfunction within metabolic tissues remains to be fully characterized...

From ancient times, studies on herbal medicine and pharmacognosy have increased gradually worldwide, due to the increased side effects, adverse drug reactions, and charge lines of modern medicines. Plants are well known for their medicinal effects and nutritional values. They contain bioactive compounds which display a wide spectrum of therapeutic effects. Gaucher's disease (GD) is a rare autosomal recessively inherited metabolic disorder caused due to the defect in Glucosylceramidase beta gene coding for the enzyme acid-β-glucosidase in humans...

The prevalence of the coronavirus disease 2019 (COVID-19) pandemic in its second year has led to massive global human and economic losses. The high transmission rate and the emergence of diverse SARS-CoV-2 variants demand rapid and effective approaches to preventing the spread, diagnosing on time, and treating affected people. Several COVID-19 vaccines are being developed using different production systems, including plants, which promises the production of cheap, safe, stable, and effective vaccines. The potential of a plant-based system for rapid production at a commercial scale and for a quick response to an infectious disease outbreak has been demonstrated by the marketing of carrot-cell-produced taliglucerase alfa (Elelyso) for Gaucher disease and tobacco-produced monoclonal antibodies (ZMapp) for the 2014 Ebola outbreak...

Lysosomal storage diseases (LSDs) are a heterogeneous group of approximately 70 monogenic metabolic disorders whose diagnosis represents an arduous challenge for clinicians due to their variability in phenotype penetrance, clinical manifestations, and high allelic heterogeneity. In recent years, the approval of disease-specific therapies and the rapid emergence of novel rapid diagnostic methods has opened, for a set of selected LSDs, the possibility for inclusion in extensive national newborn screening (NBS) programs...

Parkinson's disease (PD) and related neurodegenerative disorders, termed the synucleinopathies, are characterized pathologically by the accumulation of protein aggregates containing α-synuclein (aSyn), resulting in progressive neuronal loss. There is considerable need for the development of neuroprotective strategies to halt or slow disease progression in these disorders. To this end, evaluation of genetic mutations associated with the synucleinopathies has helped to elucidate crucial mechanisms of disease pathogenesis, revealing key roles for lysosomal and mitochondrial dysfunction...

Metal-chelating peptides (MCP) are considered as indirect antioxidants due to their capacity to inhibit radical chain reaction and oxidation. Here, we propose a new proof of concept for the screening of MCPs present in protein hydrolysates for valorizing their antioxidant properties by using the emerging time-resolved molecular dynamics technology, switchSENSE. This method unveils possible interactions between MCPs and immobilized nickel ions using fluorescence and electro-switchable DNA chips. The switchSENSE method was first set up on synthetic peptides known for their metal-chelating properties...

Genetics has driven significant discoveries in the field of neurodegenerative diseases (NDDs). An emerging theme in neurodegeneration warrants an urgent and comprehensive update: that carrier status of early-onset autosomal recessive (AR) disease, typically considered benign, is associated with an increased risk of a spectrum of late-onset NDDs. Glucosylceramidase beta ( GBA1 ) gene mutations, responsible for the AR lysosomal storage disorder Gaucher disease, are a prominent example of this principle, having been identified as an important genetic risk factor for Parkinson disease...

Összefoglaló. Az új típusú koronavírus (SARS-CoV-2) okozta pandémia kezdetén a szakmai közvélemény általános vélekedése a Gaucher-kóros betegek fokozott érzékenységét vetítette elő, magas morbiditási és mortalitási mutatókkal. Meglepő módon azonban az eddigi, nagyszámú betegen, az Egyesült Államokban, Európában és Izraelben végzett klinikai tanulmányok azt mutatják, hogy ezen súlyos anyagcsere-betegségben sem a fertőzésnek kitett betegek morbiditási adatait, sem a ritkán kialakult fertőzések súlyosságát tekintve nem áll fenn csökkent immunvédekezés a SARS-CoV-2-vel szemben...

BACKGROUND: The management of children with an asthma exacerbation includes timely systemic corticosteroids and frequent short-acting beta-agonist therapy. In selected patients, inhaled short-acting beta-agonist administration by parents may promote comfort, constitute an educational opportunity for the family, and safely reduce provider workload. Our objective was to evaluate parental satisfaction and perceived safety of this new approach. METHOD: This was a cross-sectional study, conducted in a tertiary pediatric ED...

BACKGROUND: Traditionally, treatment for chronic conditions addressed symptoms or was disease modifying and required lifelong periodic administration and recurring costs. Cell and gene therapies for rare diseases often require a short administration period relative to their expected long-term clinical benefit. Costs have historically been recognized when the service or treatment is administered, resulting in the potential for the cost associated with the possible long-term clinical benefit of cell and gene therapies being incurred during a short administration period...

OBJECTIVE: The efficacy of oral sweet solutions to decrease pain in infants during painful procedures remains uncertain. This study aimed to compare the efficacy of an oral sucrose solution versus placebo in reducing pain during bladder catheterization in infants in the Emergency Department (ED). METHODS: A randomized, double-blind clinical trial was conducted in a pediatric university-affiliated hospital ED. Infants 1-3 months old were recruited and randomly allocated to receive 2 ml of sucrose or placebo, 2 min before bladder catheterization...

BACKGROUND: The objective of this study was to explore Canadian emergency physicians' experiences, concerns, and perspectives during the first wave of the coronavirus disease (COVID-19) pandemic. METHODS: This cross-sectional survey of physician members of Pediatric Emergency Research Canada and the Canadian Association of Emergency Physicians explored: personal safety/responsibility to care; patient interactions; ethical issues in pandemic care; institutional dynamics and communication practices...

Long known as digestive organelles, lysosomes have now emerged as multifaceted centers responsible for degradation, nutrient sensing, and immunity. Growing evidence also implicates role of lysosome-related mechanisms in pathologic process. In this review, we discuss physiological function of lysosomes and, more importantly, how the homeostasis of lysosomes is disrupted in several diseases, including atherosclerosis, neurodegenerative diseases, autoimmune disorders, pancreatitis, lysosomal storage disorders, and malignant tumors...