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Sodium-dependent glucose transporter 2 inhibitors (SGLT2i) have been increasingly used with proven efficacy in patients with heart failure (HF), regardless of diabetes status. Grubić Rotkvić et al recently published an observational study on SGLT2i therapy in patients with type 2 diabetes mellitus and asymptomatic HF. They found that the use of SGLT2i led to reduced cardiac load and improved cardiovascular performance, reinforcing the evolving paradigm that SGLT2i are not merely glucose-lowering agents but are integral to the broader management of cardiovascular risk in patients with type 2 diabetes mellitus. The study by Grubić Rotkvić et al contributes to the growing body of literature supporting the early use of SGLT2i in patients with diabetic cardiomyopathy, offering a potential strategy to mitigate the progression of HF. Future larger studies should be conducted to confirm these findings, and explore the long-term cardiovascular benefits of SGLT2i, particularly in asymptomatic patients at risk of developing HF., Competing Interests: Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article., (©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.)

Background and Objectives: Congenital ataxias are rare hereditary disorders characterized by hypotonia and developmental motor delay in the first few months of life, followed by cerebellar ataxia in early childhood. The course of the disease is predominantly nonprogressive, and many patients are incorrectly diagnosed with cerebral palsy. Despite significant advancements in next-generation sequencing in the past few decades, a specific genetic diagnosis is seldom obtained in cases of congenital ataxia. The aim of the study was to analyze the clinical, radiologic, and genetic features of a cohort of Brazilian patients with congenital ataxia., Methods: Thirty patients with a clinical diagnosis of congenital ataxia were enrolled in this study. Clinical and demographic features and neuroimaging studies were analyzed. Genetic testing (whole-exome sequencing) was also performed., Results: A heterogeneous pattern of genetic variants was detected. Eighteen genes were involved: ALDH5A1 , BRF1 , CACNA1A CACNA1G , CC2D2A , CWF19L1 , EXOSC3 , ITPR1 , KIF1A , MME , PEX10 , SCN2A , SNX14 , SPTBN2 , STXBP1 , TMEM240 , THG1L , and TUBB4A . Pathogenic/likely pathogenic variants involving 11 genes ( ALDH5A1 , CACNA1A , EXOSC3 , MME , ITPR1 , KIF1A , STXBP1 , SNX14 , SPTBN2 , TMEM240 , and TUBB4A ) were identified in 46.7% of patients. Variants of uncertain significance involving 8 genes were detected in 33.3% of patients. Congenital ataxias were characterized by a broad phenotype. A genetic diagnosis was more often obtained in patients with cerebellar-plus syndrome than in patients with a pure cerebellar syndrome., Discussion: This study re-emphasizes the genetic heterogeneity of congenital ataxias and the absence of a clear phenotype-genotype relationship. A specific genetic diagnosis was established in 46.7% of patients. Autosomal dominant, associated with sporadic cases, was recognized as an important genetic inheritance. The results of this analysis highlight the value of whole-exome sequencing as an efficient screening tool in patients with congenital ataxia., Competing Interests: The authors report no relevant disclosures. Go to Neurology.org/NG for full disclosures., (Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)

Purpose of Review: This review proposes a clinical classification for congenital ataxias based on clinical features, neuroimaging, and course of the disease., Recent Findings: Congenital ataxias are an unusual group of neurologic disorders, with heterogeneous clinical and genetic presentation. Typical clinical features of congenital ataxias include variable degrees of motor developmental delay, very early onset cerebellar ataxia, cognitive impairment, and hypotonia, frequently mistakenly diagnosed as cerebral palsy. Congenital ataxias are usually nonprogressive. Neuroimaging plays an important role in the characterization of congenital ataxias. Despite the development of genetics with exome sequencing, several congenital ataxias remain undetermined, and medical literature on this topic is scarce., Summary: A didactic classification based on the clinical and neuroimaging features for congenital ataxias include the following 4 main groups: cerebellar malformation, syndromic congenital ataxias, congenital cerebellar hypoplasia, and pontocerebellar hypoplasia. A diagnostic approach for congenital ataxias is proposed, and its differential diagnosis is also discussed., (© 2021 American Academy of Neurology.)

Background: Although greater than 20% of patients hospitalized with heart failure (HF) are admitted to a critical care unit, associated outcomes, and costs have not been delineated. We determined 30-day mortality, 30-day readmissions, and hospital costs associated with direct or delayed critical care unit admission., Methods: In a population-based analysis, we compared HF patients who were admitted to critical care directly from the emergency department (direct), after initial ward admission (delayed), or never admitted to critical care during their hospital stay (ward-only)., Results: Among 178,997 HF patients (median age 80 [IQR 71-86] years, 49.6% men) 36,175 (20.2%) were admitted to critical care during their hospitalization (April 2003 to March 2018). Critical care patients were admitted directly from the emergency department (direct, 81.9%) or after initial ward admission (delayed, 18.1%). Multivariable-adjusted hazard ratios (HR) for all-cause 30-day mortality were: 1.69 for direct (95% confidence interval [CI]; 1.55, 1.84) and 4.92 for delayed (95% CI; 4.26, 5.68) critical care-admitted compared to ward-only patients. Multivariable-adjusted repeated events analysis demonstrated increased risk for all-cause 30-day readmission with both direct (HR 1.04, 95% CI; 1.01, 1.08, P = .013) and delayed critical care unit admissions (HR 1.20, 95% CI; 1.13, 1.28, P < .001). Median 30-day costs were $12,163 for direct admissions, $20,173 for delayed admissions, and $9,575 for ward-only patients (P < .001)., Conclusions: While critical care unit admission indicates increased risk of mortality and readmission at 30 days, those who experienced delayed critical care unit admission exhibited the highest risk of death and highest costs of care., (Copyright © 2020 The Authors. Published by Elsevier Inc. All rights reserved.)

Background: Ataxia telangiectasia is one of the most common causes of autosomal recessive cerebellar ataxias. However, absence of telangiectasia, normal levels of alpha-fetoprotein and negative genetic test may direct to alternative diagnosis with similar phenotypes such as ataxia telangiectasia-like disorders (ATLD)., Cases: We report two instructive cases of ATLD: the first case with ataxia telangiectasia-like disorder type 1 related to MRE11A gene, and the second case with ataxia telangiectasia-like disorder type 2 related to PCNA gene., Literature Review: ATLD is an unusual group of autosomal recessive diseases that share some clinical features and pathophysiological mechanisms with ataxia telangiectasia (AT). ATLD may be associated with mutations in the MRE11A (ATLD type 1) and PCNA (ATLD type 2) genes. ATLD belongs to the group of chromosomal instability syndromes. The reason for the term ATLD is related to the similar pathophysiological mechanisms observed in AT, which is characterized by chromosomal instability and radiosensitivity., Conclusions: In this review, the main clinical features, biomarkers, brain imaging and genetics of ATLD are discussed. Mutations in the MRE11A and PCNA genes should be included in the differential diagnosis for early onset cerebellar ataxia with absence of telangiectasia and normal levels of alpha-fetoprotein., Competing Interests: The authors have no conflicts of interest to report and there was no funding for this work., (© 2020 International Parkinson and Movement Disorder Society.)

Purpose: The APPROACH cardiovascular surgical intensive care unit (CVICU) readmission score has excellent discrimination and calibration for CVICU readmission after discharge to a surgical ward; however, it has not been prospectively validated., Material and Methods: In a prospective consecutive cohort of 805 patients ≥18 years admitted to the CVICU after coronary artery bypass and/or valvular surgery, the APPROACH CVICU readmission score was calculated at the time of discharge to a surgical ward. The study compared observed versus predicted CVICU readmission and the model discrimination was evaluated using AUC c-index. The incremental prognostic utility of 6 pre-specified prospectively collected respiratory (re-intubation, tracheostomy, oxygen at discharge) and hemodynamic variables (heart rate, systolic blood pressure, inotropes at discharge) were tested using net reclassification index (NRI) and integrated discrimination improvement (IDI)., Results: A total of 37 (4.6%) patients were readmitted to the CVICU. The median CVICU length of stay (9.0 vs 2.0 days, p < .001) and all-cause in-hospital mortality (8.1% vs 0.4%, p < .001) was higher among readmitted patients. The model had good discrimination (c-index = 0.748). Systolic blood pressure at discharge yielded the largest improvement in model discrimination (c-index = 0.782; Hosmer-Lemshow p = .749)., Conclusions: In a prospective validation cohort, the APPROACH CVICU readmission risk score had good discrimination and could be operationalized in future research and clinical practice., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Mineralocorticoid receptor antagonist (MRA) therapy is indicated after myocardial infarction in patients with acute heart failure (AHF) with an ejection fraction ≤40% and lacking contraindications. We analyzed clinical presentations, predictors, and outcomes of MRA-eligible patients within a prospective registry of patients with AHF from 18 hospitals in Saudi Arabia, from 2009 to 2010. For this subgroup, mortality rates were followed until 2013, and the clinical characteristics, management, predictors, and outcomes were compared between MRA-treated and non-MRA-treated patients. Of 2609 patients with AHF, 387 (14.8%) were MRA eligible, of which 146 (37.7%) were prescribed MRAs. Compared with non-MRA-treated patients, those prescribed MRAs more commonly exhibited non-ST-segment elevation myocardial infarction, acute on chronic heart failure, past history of ischemic heart disease, and severe left ventricular systolic dysfunction; were more commonly administered oral furosemide and digoxin; and had higher in-hospital recurrent congestive HF rates. Mortality did not significantly differ ( P > .05) between groups. In Saudi Arabia, 37.7% of eligible patients received MRA treatment, which is higher than that in developed countries. The lack of long-term survival benefit raises concerns about systematic problems, for example, proper follow-up and management after hospital discharge, warranting further investigation.

Background: Most patients with acute heart failure (AHF) admitted to critical care units (CCUs) are low acuity and do not require CCU-specific therapies, suggesting that they could be managed in a lower-cost ward environment. This study identified the predictors of clinical events and the need for CCU-specific therapies in patients with AHF., Methods: Model derivation was performed using data from patients in the ASCEND-HF trial cohort (n=7,141), and the Acute Heart Failure Emergency Management community-based registry (n=666) was used to externally validate the model and to test the incremental prognostic utility of 4 variables (heart failure etiology, troponin, B-type natriuretic peptide [BNP], ejection fraction) using net reclassification index and integrated discrimination improvement. The primary outcome was an in-hospital composite of the requirement for CCU-specific therapies or clinical events., Results: The primary composite outcome occurred in 545 (11.4%) derivation cohort participants (n=4,767) and 7 variables were predictors of the primary composite outcome: body mass index, chronic respiratory disease, respiratory rate, resting dyspnea, hemoglobin, sodium, and blood urea nitrogen (c index=0.633, Hosmer-Lemeshow P=.823). In the validation cohort (n=666), 87 (13.1%) events occurred (c index=0.629, Hosmer-Lemeshow P=.386) and adding ischemic heart failure, troponin, and B-type natriuretic peptide improved model performance (net reclassification index 0.79, 95% CI 0.046-0.512; integrated discrimination improvement 0.014, 95% CI 0.005-0.0238). The final 10-variable clinical prediction model demonstrated modest discrimination (c index=0.702) and good calibration (Hosmer-Lemeshow P=.547)., Conclusions: We derived, validated, and improved upon a clinical prediction model in an international trial and a community-based cohort of AHF. The model has modest discrimination; however, these findings deserve further exploration because they may provide a more accurate means of triaging level of care for patients with AHF who need admission., (Copyright © 2017 Elsevier Inc. All rights reserved.)

A 21-year-old nonobese woman developed headaches and papilledema while excessively using 3 topical preparations of vitamin A. Neuroimaging studies were unremarkable and opening pressure on lumbar puncture was 300 mm H2O with normal cerebrospinal fluid composition. After discontinuation of the topical vitamin A preparations, the symptoms and signs of increased intracranial pressure resolved. The association of intracranial hypertension and topical vitamin A application has only been reported once previously.