Beyond the kidney: extra-renal manifestations of monogenic nephrolithiasis and their significance.

Background: The objective of this study was to explore the frequency of occurrence of extra-renal manifestations associated with monogenic nephrolithiasis.

Methods: A literature review was conducted to identify genes that are monogenic causes of nephrolithiasis. The Online Mendelian Inheritance in Man (OMIM) database was used to identify associated diseases and their properties.

CD19-targeted chimeric antigen receptor T-cell therapy in patients with concurrent B-cell Non-Hodgkin lymphoma and rheumatic autoimmune diseases: a propensity score matching study.

Rheumatic autoimmune diseases not only involve the production of autoantibodies but also demonstrate T-cell dysfunction. In patients with concurrent B-cell non-Hodgkin lymphoma (NHL) and rheumatic autoimmune diseases, the safety and efficacy of CD19-targeted chimeric antigen receptor (CAR) T-cell therapy are unknown. Using an aggregated electronic health record database, patients with rheumatic autoimmune diseases (auto group) were compared to propensity score-matched patients without rheumatic autoimmune diseases (non-auto group).

Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency-Lessons learned.

Carbamoyl phosphate synthetase 1 (CPS1) deficiency is an autosomal recessive urea cycle disorder with varying presentations. Patients with a neonatal-onset phenotype are initially healthy but develop severe hyperammonemia days after birth and often have poor or lethal outcomes, while patients who present later in life may exhibit less severe clinical manifestations. CPS1 deficiency is rarely found on newborn screening because most states do not screen for this disease due to the technical difficulties.

Should We Use High-Flow Nasal Cannula in Patients Receiving Gastrointestinal Endoscopies? Critical Appraisals through Updated Meta-Analyses with Multiple Methodologies and Depiction of Certainty of Evidence.

(1) Background: High-flow nasal cannula (HFNC) therapy or conventional oxygen therapy (COT) are typically applied during gastrointestinal (GI) endoscopic sedation. (2) Methods: We conducted a rigorous systematic review enrolling randomized controlled trials (RCTs) from five databases. Risk of bias was assessed using Cochrane's RoB 2.

Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase gene causing severe Isovaleric acidemia with hyperammonemia.

With the execution of expanded newborn screen (NBS) program nationwide, it is uncommon to see severe hyperammonemia associated with isovaleric acidemia (IVA). We present a seven-day-old boy with severe IVA complicated by hyperammonemia. This child was flagged by NBS at 4 days old, but confirmatory testing was delayed due to COVID19 pandemic and parental skepticism.

The Early Dynamic Change in Cardiac Enzymes and Renal Function Is Associated with Mortality in Patients with Fulminant Myocarditis on Extracorporeal Membrane Oxygenation: Analysis of a Single Center's Experience.

(1) Background: Fulminant myocarditis (FM) could result in hemodynamic derangement and fatal arrhythmia. Veno-arterial extracorporeal membrane oxygenation (V-A ECMO) is used to maintain organ perfusion in FM patients complicating cardiogenic shock. The present study aims to assess the static and dynamic factors in association with mortality in FM patients on V-A ECMO (2) Methods: Twenty-eight patients were enrolled between 2013 to 2019 for analysis (3) Results: In-hospital survival rate was 78.

Temporary coronary sinus pacing to improve ventricular dyssynchrony with cardiogenic shock: A case report.

Background: Temporary transvenous pacing through the coronary sinus is a novel approach rarely used in treating unstable bradycardia. This modality could provide cardiac pacing while achieving better ventricular synchrony. We present a case who received cardiac pacing through the coronary sinus and provide a summary of evidence in the current literature.

The Football Sign: An Alarming Feature on Supine Radiograph.

Football sign is a rare radiographic finding on abdominal x-ray that suggests massive pneumoperitoneum. Free air outlines the abdominal cavity and falciform ligament which creates the radiolucent oval contour of a football. Football sign is hardly reported in older children or adults.