Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease.

Glucocerebrosidase (GBA1) variants constitute numerically the most common known genetic risk factor for Parkinson's disease (PD) and are distributed worldwide. Access to GBA1 genotyping varies across the world and even regionally within countries. Guidelines for GBA1 variant counseling are evolving.

Variations in phase angle and handgrip strength in patients undergoing cardiac surgery: Prospective cohort study.

Background: Bioimpedance phase angle (PA) is a measure of cell membrane integrity, whereas handgrip strength (HGS) is an evaluation of functional capacity. Although both are related to the prognosis of patients undergoing cardiac surgery, their changes over time are less known. This study followed variations in PA and HGS for 1 year in these patients, determining associations with clinical outcomes.

Acute gastrointestinal failure is associated with worse hemodynamic and perfusion parameters over 48 h after admission in patients with septic shock: Retrospective cohort study.

Background: This study aimed to investigate the relationship between acute gastrointestinal injury (AGI) and hemodynamic and perfusion parameters in the first week of intensive care unit (ICU) admission and evaluate the association of AGI with ICU and hospital outcomes in patients with septic shock undergoing mechanical ventilation.

Methods: This retrospective cohort study applied the criteria proposed by the European Society of Intensive Medicine to classify the participants into risk/dysfunction group (AGI grade I and II) and failure group (AGI grade III and IV). Hemodynamic and perfusion parameters data previously collected in the first 48 h after ICU admission (admission, 12, 24, 48 h) were analyzed.

Glucocerebrosidase mutations and Parkinson disease.

The discovery of glucocerebrosidase (GBA1) mutations as the greatest numerical genetic risk factor for the development of Parkinson disease (PD) resulted in a paradigm shift within the research landscape. Efforts to elucidate the mechanisms behind GBA1-associated PD have highlighted shared pathways in idiopathic PD including the loss and gain-of-function hypotheses, endoplasmic reticulum stress, lipid metabolism, neuroinflammation, mitochondrial dysfunction and altered autophagy-lysosomal pathway responsible for degradation of aggregated and misfolded a-synuclein. GBA1-associated PD exhibits subtle differences in phenotype and disease progression compared to idiopathic counterparts notably an earlier age of onset, faster motor decline and greater frequency of non-motor symptoms (which also constitute a significant aspect of the prodromal phase of the disease).

Comparison of hemodynamic instability among continuous, intermittent and hybrid renal replacement therapy in acute kidney injury: A systematic review of randomized clinical trials.

Purpose: To compare hemodynamic instability during continuous, intermittent and hybrid renal replacement therapy (RRT) in critically ill patients, and its association with renal recovery and mortality.

Materials And Methods: The search was conducted in accordance with the PRISMA guidelines which was registered at the PROSPERO Database (CRD42018086504). Randomized clinical trials (RCTs) involving critically ill patients with acute kidney injury (AKI) treated with continuous, intermittent or hybrid RRT were included.

SAPS 3 in the modified NUTrition RIsk in the Critically ill score has comparable predictive accuracy to APACHE II as a severity marker.

Objective: To evaluate the substitution of Acute Physiology and Chronic Health Evaluation II (APACHE II) by Simplified Acute Physiology Score 3 (SAPS 3) as a severity marker in the modified version of the NUTrition RIsk in the Critically ill score (mNUTRIC); without interleukin 6) based on an analysis of its discriminative ability for in-hospital mortality prediction.

Methods: This retrospective cohort study evaluated 1,516 adult patients admitted to an intensive care unit of a private general hospital from April 2017 to January 2018. Performance evaluation included Fleiss' Kappa and Pearson correlation analysis.

Glucocerebrosidase mutations: A paradigm for neurodegeneration pathways.

Biallelic (homozygous or compound heterozygous) glucocerebrosidase gene (GBA) mutations cause Gaucher disease, whereas heterozygous mutations are numerically the most important genetic risk factor for Parkinson disease (PD) and are associated with the development of other synucleinopathies, notably Dementia with Lewy Bodies. This phenomenon is not limited to GBA, with converging evidence highlighting further examples of autosomal recessive disease genes increasing neurodegeneration risk in heterozygous mutation carriers. Nevertheless, despite extensive research, the cellular mechanisms by which mutations in GBA, encoding lysosomal enzyme β-glucocerebrosidase (GCase), predispose to neurodegeneration remain incompletely understood.

Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease.

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. () 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.

Changes in cardiac arrest profiles after the implementation of a Rapid Response Team.

Objective: To evaluate changes in the characteristics of in-hospital cardiac arrest after the implementation of a Rapid Response Team.

Methods: This was a prospective observational study of in-hospital cardiac arrest that occurred from January 2013 to December 2017. The exclusion criterion was in-hospital cardiac arrest in the intensive care unit, emergency room or operating room.

Number of dental abutments influencing the biomechanical behavior of tooth‒implant-supported fixed partial dentures: A finite element analysis.

Local or systemic issues might prevent installing a sufficient number of dental implants for fixed prosthetic rehabilitation. Splinting dental implants and natural teeth in fixed dentures could overcome such limitations. Therefore, this study aimed to evaluate the influence of the number of dental abutments in the biomechanics of tooth‒implant-supported fixed partial dentures (FPDs).

A protocol for an interventional study on the impact of transcutaneous parasacral nerve stimulation in children with functional constipation.

Introduction: Transcutaneous parasacral nerve stimulation (TPNS) via electrodes placed over the sacrum can activate afferent neuronal networks noninvasively, leading to sacral reflexes that may improve colonic motility. Thus, TPNS can be considered a promising, noninvasive, and safe method for the treatment of constipation. However, there is no published study investigating its use in children with functional constipation.

Hemodynamic and skin perfusion is associated with successful enteral nutrition therapy in septic shock patients.

Background & Aims: Enteral nutrition is controversial in hemodynamically unstable patients. This study aimed to evaluate the association between hemodynamic and skin perfusion parameters and enteral nutrition therapy (NT) outcomes in septic shock patients.

Methods: Ventilated adults with septic shock were evaluated at bedside upon admission (H0), and at 12 h (H1), 24 h (H2) and 48 h (H3) for mean arterial pressure (MAP), heart rate, urine output, lactate levels, mottling score, capillary refill time (CRT), central-to-toe temperature gradient and norepinephrine dose.

Genetic causes of PD: A pathway to disease modification.

The underline neuropathology of Parkinson disease is pleiomorphic and its genetic background diverse. Possibly because of this heterogeneity, no effective disease modifying therapy is available. In this paper we give an overview of the genetics of Parkinson disease and explain how this is relevant for the development of new therapies.

Comparison of bronchial hygiene techniques in mechanically ventilated patients: a randomized clinical trial.

Objective: To compare the effects of vibrocompression and hyperinflation with mechanical ventilator techniques alone and in combination (hyperinflation with mechanical ventilator + vibrocompression) on the amount of aspirated secretion and the change in hemodynamic and pulmonary parameters.

Methods: A randomized clinical trial with critically ill patients on mechanical ventilation conducted in the intensive care unit of a university hospital. The patients were randomly allocated to receive one of the bronchial hygiene techniques for 10 minutes (vibrocompression or hyperinflation with mechanical ventilator or hyperinflation with mechanical ventilator + vibrocompression).

Handgrip Strength in Preoperative Elective Cardiac Surgery Patients and Association With Body Composition and Surgical Risk.

Background: Handgrip strength (HGS) is a potential method to approximate perioperative risk in cardiothoracic surgery patients and correlates well with European System for Cardiac Operative Risk Evaluation (EuroSCORE) values. This study aimed to characterize the functional capacity in preoperative cardiac surgery patients through HGS.

Methods: This cross-sectional study investigated patients aged 18 years or older.

Critical illness polyneuromyopathy in septic patients: Is it possible to diagnose it in a bedside clinical examination?

Objective: To determine the sensitivity and specificity of peripheral and respiratory muscle strength tests in diagnosing critical illness polyneuromyopathy (CIPNM), compared with an electrophysiological examination.

Methods: Fifty septic patients who required mechanical ventilation for at least five days, and without a previous history of muscle weakness, were included. Peripheral muscle strength was assessed using the Medical Research Council (MRC) score, handgrip strength by dynamometry, and respiratory muscle strength with maximum respiratory pressures.

Quality of life after intensive care unit: a multicenter cohort study protocol for assessment of long-term outcomes among intensive care survivors in Brazil.

Objective: To establish the prevalence of physical, cognitive and psychiatric disabilities, associated factors and their relationship with the qualities of life of intensive care survivors in Brazil.

Methods: A prospective multicenter cohort study is currently being conducted at 10 adult medical-surgical intensive care units representative of the 5 Brazilian geopolitical regions. Patients aged ≥ 18 years who are discharged from the participating intensive care units and stay 72 hours or more in the intensive care unit for medical or emergency surgery admissions or 120 hours or more for elective surgery admissions are consecutively included.

Nutritional Risk Screening 2002 Cut-Off to Identify High-Risk Is a Good Predictor of ICU Mortality in Critically Ill Patients.

Background: The Nutritional Risk Screening 2002 (NRS-2002) is a widely recommended nutrition risk indicator. Two cut-offs have been proposed for intensive care unit (ICU) patients to classify nutrition risk: ≥3-<5, at risk and ≥5, high risk. To date, no study has directly compared these cut-offs.

Mild Therapeutic Hypothermia Increases Glutathione Levels in Postcardiac Arrest Patients.

Ischemia-reperfusion (I/R)-induced oxidative stress is one of the main mechanisms of tissue injury after cardiac arrest (CA). A decrease in antioxidant defenses may contribute to I/R injury. The present study aims to investigate the influence of mild therapeutic hypothermia (MTH) on levels of nonenzymatic antioxidants after CA.

Validation of Two Pain Assessment Tools Using a Standardized Nociceptive Stimulation in Critically Ill Adults.

Context: The Behavioral Pain Scale (BPS) or the Critical-Care Pain Observation Tool (CPOT) are recommended in practice guidelines for pain assessment in critically ill adults unable to self-report. However, their use in another language requires cultural adaptation and validation testing.

Objectives: Cross-cultural adaptation of the CPOT and BPS English versions into Brazilian Portuguese, and their validation by comparing behavioral scores during rest, standardized nociceptive stimulation by pressure algometry (SNSPA), and turning were completed.

Performance evaluation of phase angle and handgrip strength in patients undergoing cardiac surgery: Prospective cohort study.

Background And Aims: The phase angle (PA), derived from bioelectrical impedance analysis (BIA), has been interpreted as a cell membrane integrity indicator, while handgrip strength (HGS) has been used as a prognostic indicator in certain clinical situations, such as in cardiac, oncologic patients with renal disease, hemodialysis patients, HIV-positive patients, and liver disease patients. In addition to prognostic scores, body changes due to surgical procedures indicate the importance of measuring muscle function and cell integrity. This study aimed to evaluate the behaviour of PA and HGS in patients undergoing cardiac surgery and associate these factors with clinical outcomes and prognosis.

Safe prone checklist: construction and implementation of a tool for performing the prone maneuver.

Objective: To construct and implement an instrument (checklist) to improve safety when performing the prone maneuver.

Methods: This was an applied, qualitative and descriptive study. The instrument was developed based on a broad review of the literature pertaining to the construction of a care protocol using the main electronic databases (MEDLINE, LILACS and Cochrane).