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Journal of Neurology, Neurosurgery, and... Apr 2023This study aimed to determine the clinical and diagnostic factors associated with mechanical ventilation (MV) in Guillain-Barré syndrome (GBS) and to simplify the...
BACKGROUND
This study aimed to determine the clinical and diagnostic factors associated with mechanical ventilation (MV) in Guillain-Barré syndrome (GBS) and to simplify the existing Erasmus GBS Respiratory Insufficiency Score (EGRIS) for predicting the risk of MV.
METHODS
Data from the first 1500 patients included in the prospective International GBS Outcome Study (IGOS) were used. Patients were included across five continents. Patients <6 years and patients from Bangladesh were excluded. Univariable logistic and multivariable Cox regression were used to determine which prespecified clinical and diagnostic characteristics were associated with MV and to predict the risk of MV at multiple time points during disease course.
RESULTS
1133 (76%) patients met the study criteria. Independent predictors of MV were a shorter time from onset of weakness until admission, the presence of bulbar palsy and weakness of neck flexion and hip flexion. The modified EGRIS (mEGRIS) was based on these factors and accurately predicts the risk of MV with an area under the curve (AUC) of 0.84 (0.80-0.88). We internally validated the model within the full IGOS cohort and within separate regional subgroups, which showed AUC values of 0.83 (0.81-0.88) and 0.85 (0.72-0.98), respectively.
CONCLUSIONS
The mEGRIS is a simple and accurate tool for predicting the risk of MV in GBS. Compared with the original model, the mEGRIS requires less information for predictions with equal accuracy, can be used to predict MV at multiple time points and is also applicable in less severely affected patients and GBS variants. Model performance was consistent across different regions.
Topics: Humans; Guillain-Barre Syndrome; Prospective Studies; Respiration, Artificial; Disease Progression; Respiratory Insufficiency
PubMed: 36428088
DOI: 10.1136/jnnp-2022-329937 -
The Journal of Clinical Investigation Jan 2020BACKGROUNDProteinuria is considered an unfavorable clinical condition that accelerates renal and cardiovascular disease. However, it is not clear whether all forms of... (Clinical Trial)
Clinical Trial
BACKGROUNDProteinuria is considered an unfavorable clinical condition that accelerates renal and cardiovascular disease. However, it is not clear whether all forms of proteinuria are damaging. Mutations in CUBN cause Imerslund-Gräsbeck syndrome (IGS), which is characterized by intestinal malabsorption of vitamin B12 and in some cases proteinuria. CUBN encodes for cubilin, an intestinal and proximal tubular uptake receptor containing 27 CUB domains for ligand binding.METHODSWe used next-generation sequencing for renal disease genes to genotype cohorts of patients with suspected hereditary renal disease and chronic proteinuria. CUBN variants were analyzed using bioinformatics, structural modeling, and epidemiological methods.RESULTSWe identified 39 patients, in whom biallelic pathogenic variants in the CUBN gene were associated with chronic isolated proteinuria and early childhood onset. Since the proteinuria in these patients had a high proportion of albuminuria, glomerular diseases such as steroid-resistant nephrotic syndrome or Alport syndrome were often the primary clinical diagnosis, motivating renal biopsies and the use of proteinuria-lowering treatments. However, renal function was normal in all cases. By contrast, we did not found any biallelic CUBN variants in proteinuric patients with reduced renal function or focal segmental glomerulosclerosis. Unlike the more N-terminal IGS mutations, 37 of the 41 proteinuria-associated CUBN variants led to modifications or truncations after the vitamin B12-binding domain. Finally, we show that 4 C-terminal CUBN variants are associated with albuminuria and slightly increased GFR in meta-analyses of large population-based cohorts.CONCLUSIONCollectively, our data suggest an important role for the C-terminal half of cubilin in renal albumin reabsorption. Albuminuria due to reduced cubilin function could be an unexpectedly common benign condition in humans that may not require any proteinuria-lowering treatment or renal biopsy.FUNDINGATIP-Avenir program, Fondation Bettencourt-Schueller (Liliane Bettencourt Chair of Developmental Biology), Agence Nationale de la Recherche (ANR) Investissements d'avenir program (ANR-10-IAHU-01) and NEPHROFLY (ANR-14-ACHN-0013, to MS), Steno Collaborative Grant 2018 (NNF18OC0052457, to TSA and MS), Heisenberg Professorship of the German Research Foundation (KO 3598/5-1, to AK), Deutsche Forschungsgemeinschaft (DFG) Collaborative Research Centre (SFB) KIDGEM 1140 (project 246781735, to CB), and Federal Ministry of Education and Research (BMB) (01GM1515C, to CB).
Topics: Albuminuria; Anemia, Megaloblastic; Female; Humans; Kidney Tubules, Proximal; Malabsorption Syndromes; Male; Mutation; Proteinuria; Receptors, Cell Surface; Vitamin B 12 Deficiency
PubMed: 31613795
DOI: 10.1172/JCI129937 -
The New England Journal of Medicine Apr 2021Patients with acute hypoxemic respiratory failure in the intensive care unit (ICU) are treated with supplemental oxygen, but the benefits and harms of different... (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND
Patients with acute hypoxemic respiratory failure in the intensive care unit (ICU) are treated with supplemental oxygen, but the benefits and harms of different oxygenation targets are unclear. We hypothesized that using a lower target for partial pressure of arterial oxygen (Pao) would result in lower mortality than using a higher target.
METHODS
In this multicenter trial, we randomly assigned 2928 adult patients who had recently been admitted to the ICU (≤12 hours before randomization) and who were receiving at least 10 liters of oxygen per minute in an open system or had a fraction of inspired oxygen of at least 0.50 in a closed system to receive oxygen therapy targeting a Pao of either 60 mm Hg (lower-oxygenation group) or 90 mm Hg (higher-oxygenation group) for a maximum of 90 days. The primary outcome was death within 90 days.
RESULTS
At 90 days, 618 of 1441 patients (42.9%) in the lower-oxygenation group and 613 of 1447 patients (42.4%) in the higher-oxygenation group had died (adjusted risk ratio, 1.02; 95% confidence interval, 0.94 to 1.11; P = 0.64). At 90 days, there was no significant between-group difference in the percentage of days that patients were alive without life support or in the percentage of days they were alive after hospital discharge. The percentages of patients who had new episodes of shock, myocardial ischemia, ischemic stroke, or intestinal ischemia were similar in the two groups (P = 0.24).
CONCLUSIONS
Among adult patients with acute hypoxemic respiratory failure in the ICU, a lower oxygenation target did not result in lower mortality than a higher target at 90 days. (Funded by the Innovation Fund Denmark and others; HOT-ICU ClinicalTrials.gov number, NCT03174002.).
Topics: Aged; Female; Humans; Hypoxia; Intensive Care Units; Kaplan-Meier Estimate; Male; Middle Aged; Oxygen; Oxygen Inhalation Therapy; Respiration, Artificial; Respiratory Distress Syndrome; Respiratory Insufficiency
PubMed: 33471452
DOI: 10.1056/NEJMoa2032510 -
Ugeskrift For Laeger Apr 2022
Topics: Carotid Artery, Internal; Carotid Artery, Internal, Dissection; Horner Syndrome; Humans
PubMed: 35410649
DOI: No ID Found -
Neurology Jun 2023To investigate CSF findings in relation to clinical and electrodiagnostic subtypes, severity, and outcome of Guillain-Barré syndrome (GBS) based on 1,500 patients in...
BACKGROUND AND OBJECTIVES
To investigate CSF findings in relation to clinical and electrodiagnostic subtypes, severity, and outcome of Guillain-Barré syndrome (GBS) based on 1,500 patients in the International GBS Outcome Study.
METHODS
Albuminocytologic dissociation (ACD) was defined as an increased protein level (>0.45 g/L) in the absence of elevated white cell count (<50 cells/μL). We excluded 124 (8%) patients because of other diagnoses, protocol violation, or insufficient data. The CSF was examined in 1,231 patients (89%).
RESULTS
In 846 (70%) patients, CSF examination showed ACD, which increased with time from weakness onset: ≤4 days 57%, >4 days 84%. High CSF protein levels were associated with a demyelinating subtype, proximal or global muscle weakness, and a reduced likelihood of being able to run at week 2 (odds ratio [OR] 0.42, 95% CI 0.25-0.70; = 0.001) and week 4 (OR 0.44, 95% CI 0.27-0.72; = 0.001). Patients with the Miller Fisher syndrome, distal predominant weakness, and normal or equivocal nerve conduction studies were more likely to have lower CSF protein levels. CSF cell count was <5 cells/μL in 1,005 patients (83%), 5-49 cells/μL in 200 patients (16%), and ≥50 cells/μL in 13 patients (1%).
DISCUSSION
ACD is a common finding in GBS, but normal protein levels do not exclude this diagnosis. High CSF protein level is associated with an early severe disease course and a demyelinating subtype. Elevated CSF cell count, rarely ≥50 cells/μL, is compatible with GBS after a thorough exclusion of alternative diagnoses.
CLASSIFICATION OF EVIDENCE
This study provides Class IV evidence that CSF ACD (defined by the Brighton Collaboration) is common in patients with GBS.
Topics: Adult; Female; Humans; Male; Middle Aged; Cell Count; Cerebrospinal Fluid; Cohort Studies; Disease Progression; Guillain-Barre Syndrome; Internationality; Miller Fisher Syndrome; Prognosis; Treatment Outcome
PubMed: 37076309
DOI: 10.1212/WNL.0000000000207282 -
Continuum (Minneapolis, Minn.) Dec 2019This article reviews the episodic muscle disorders, including benign cramp-fasciculation syndrome, the periodic paralyses, and the nondystrophic myotonias. The core... (Review)
Review
PURPOSE OF REVIEW
This article reviews the episodic muscle disorders, including benign cramp-fasciculation syndrome, the periodic paralyses, and the nondystrophic myotonias. The core diagnostic criteria for a diagnosis of primary periodic paralysis, including clues to distinguish between the hypokalemic and hyperkalemic forms, and the distinctive elements that characterize Andersen-Tawil syndrome are discussed. Management of patients with these disorders is also discussed.
RECENT FINDINGS
Childhood presentations of periodic paralysis have recently been described, including atypical findings. Carbonic anhydrase inhibitors, such as dichlorphenamide, have recently been approved by the US Food and Drug Administration (FDA) for the treatment of both hypokalemic and hyperkalemic forms of periodic paralysis. Muscle MRI may be a useful outcome measure in pharmacologic trials in periodic paralysis. Genetic research continues to identify additional gene mutations responsible for periodic paralysis.
SUMMARY
This article will help neurologists diagnose and manage episodic muscle disorders and, in particular, the periodic paralyses and the nondystrophic myotonias.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Male; Myotonia; Neuromuscular Diseases; Paralyses, Familial Periodic
PubMed: 31794467
DOI: 10.1212/CON.0000000000000802 -
Ugeskrift For Laeger Apr 2023Kidney stone disease is rapidly increasing with a strong relationship to metabolic syndrome. This review gives a brief overview of the current state and current... (Review)
Review
Kidney stone disease is rapidly increasing with a strong relationship to metabolic syndrome. This review gives a brief overview of the current state and current treatment modalities. Increasing use of CT and ultrasound scans leads to increased diagnosis of asymptomatic kidney stones, which rarely require treatment. The trend in stone treatment goes towards endoscopic lithotripsy which together with ESWL enables a personalised approach. Obstructive stones with infection require urgent intervention to reduce mortality. Increased fluid intake, dietary changes as well as potassium citrate supplements are the most important elements in stone prevention in the common idiopathic stone disease.
Topics: Humans; Treatment Outcome; Kidney Calculi; Lithotripsy; Citric Acid
PubMed: 37057692
DOI: No ID Found -
Vascular Health and Risk Management 2022Bidirectional ventricular tachycardia (BiVT) is a rare form of ventricular tachycardia that manifests on surface electrocardiogram by dual QRS morphologies alternating... (Review)
Review
Bidirectional ventricular tachycardia (BiVT) is a rare form of ventricular tachycardia that manifests on surface electrocardiogram by dual QRS morphologies alternating on a beat-to-beat basis. It was first reported in the 1920s as a complication of digoxin, and since then, it has been reported in other conditions including fulminant myocarditis, sarcoidosis, catecholaminergic polymorphic ventricular tachycardia, and Andersen-Tawil syndrome. The mechanism for BiVT is not as well known as other forms of ventricular tachycardia but appears to include typical mechanisms including triggered activity from afterdepolarizations, abnormal automaticity, or reentry. This review will go beyond the definition, surface electrocardiogram, mechanisms, causes, and treatment of BiVT as per our current understanding.
Topics: Andersen Syndrome; Electrocardiography; Humans; Tachycardia; Tachycardia, Ventricular
PubMed: 35698640
DOI: 10.2147/VHRM.S274857 -
International Archives of Occupational... Oct 2022To evaluate the effects of online-supervised versus workplace corrective exercises on neck-shoulder pain (NSP), sick leave, posture, workability, and muscular activity... (Randomized Controlled Trial)
Randomized Controlled Trial
OBJECTIVE
To evaluate the effects of online-supervised versus workplace corrective exercises on neck-shoulder pain (NSP), sick leave, posture, workability, and muscular activity among office workers with the upper crossed syndrome (UCS).
METHODS
We performed a parallel-group randomized control trial at Shahid Beheshti University, Tehran, Iran, assigning 36 office workers to online-supervised, workplace, and control groups (mean (SD) age 38.91 ± 3.87, 38.58 ± 7.34, 37.00 ± 8.12). Inclusion criteria were alignment alteration (forward head (≥ 45°), rounding shoulder (≥ 52°), rounding back (≥ 42°), and pain intensity ≥ 3 in neck and shoulder. The two intervention groups performed 8-week exercise program, while the control group continued usual activities. Primary (NSP and sick leave) and secondary outcomes [postural angles, workability, and muscular activity were measured by VAS, outcome evaluation questionnaire (OEQ), photogrammetry, workability index, and EMG, respectively, at the baseline and an 8-week follow-up].
RESULTS
ANCOVA results revealed improvements for the online-supervised group versus control for NSP (P = 0.007), postural angles (P = 0.000, P = 0.001, P = 0.005), workability (P = 0.048, P = 0.042), and upper trapezius activation (P = 0.024, P = 0.016), respectively. Using paired t tests, both intervention groups improved from baseline to follow-up for NSP (P = 0.000, P = 0.002), forward head posture (P = 0.000, P = 0.000), round shoulders (P = 0.001, P = 0.031), and round back (P = 0.034, P = 0.008), respectively. Related parameters of workability (P = 0.041, P = 0.038), upper trapezius (P = 0.005, P = 0.005, P = 0.022), and serratus anterior (P = 0.020, P = 0.015) changed only in the online-supervised group.
CONCLUSION
Online-supervised corrective exercise seems to improve a range of parameters related to work performance. These findings are highly applicable in light of the ongoing COVID pandemic; many workers have to work from home.
Topics: COVID-19; Exercise Therapy; Humans; Iran; Musculoskeletal Pain; Superficial Back Muscles; Workplace
PubMed: 35391580
DOI: 10.1007/s00420-022-01859-3