Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals.

Background: Acid sphingomyelinase deficiency (ASMD) and Gaucher disease type 1 (GD1) are rare inherited sphingolipid disorders with multisystemic manifestations, including liver disease and dyslipidemia. Despite effective treatments, insufficient disease awareness frequently results in diagnostic delays during which irreversible complications occur. We delineated the shared and distinctive features of hepatic, splenic, and lipoprotein phenotypes in ASMD and GD1.

Reliability and Validity of the Turkish Version of Early-Onset Scoliosis Self-Report Questionnaire.

Objective: Early-Onset Scoliosis Self-Report Questionnaire (EOSQ-SELF) is a recently developed self-reported questionnaire based on the widely adopted Early-Onset Scoliosis Questionnaire and evaluates health-related quality of life in children with early-onset scoliosis over 8 years of age. To date, the questionnaire does not have a validated version in Turkish. The aim of this study was to translate EOSQ-SELF into Turkish and evaluate its reliability and validity.

Recurrent Plasmodium falciparum Malaria in U.S. Travelers Treated with Artemether-Lumefantrine.

We report two cases of recurrent malaria in U.S. travelers returning from Africa (Ghana and Central African Republic) despite a full course of artemether-lumefantrine (AL).

A germline FLT3 variant in aplastic anemia.

FMS-like tyrosine kinase 3 (FLT3) genetic variants are commonly seen in high-grade myeloid neoplasms and are typically gain-of-function mutations associated with a proliferative disease phenotype. Inactivating FLT3 variants have been less frequently described in non-malignant, autoimmune disorders and are uncommon in aplastic anemia (AA). Herein, we report the first to our knowledge, and unusual case of a germline, gain-of-function, FLT3 variant in a patient with severe AA treated successfully with immunosuppressive therapy.

ASTHMAXcel perception: a mobile health application for training in the perception of airflow limitation.

Objective: ASTHMAXcel Perception is an expansion of prior ASTHMAXcel mobile health applications for children with asthma. ASTHMAXcel Perception was evaluated for its ability to improve asthma control and perception of airflow limitation.

Methods: Patients with asthma ages 15-21 were randomized to receive ASTHMAXcel Perception with peak expiratory flow (PEF) feedback or usual care (UC).

Managing thrombosis risk in flow diversion: A review of antiplatelet approaches.

Flow diversion is a transformative approach in neurointerventional surgery for intracranial aneurysms that relies heavily on effective antiplatelet therapy. The ideal approach, including the timing of treatment, the use of dual antiplatelet therapy (DAPT), and the number of flow-diverter devices to use, remains unknown. DAPT, which combines aspirin with a thienopyridine like clopidogrel, prasugrel, or ticagrelor, is the standard regimen, balancing thromboembolic protection and hemorrhagic risk.

Left Ventricular Assist Device Therapy in Cold and Dry Patients.

Background: Patients with end-stage heart failure and low pulmonary capillary wedge pressure are referred to as cold and dry and represent an understudied minority in whom the benefit of left ventricular assist device (LVAD) therapy is unclear.

Methods: Adults receiving LVADs between 2006 and 2017 in the Interagency Registry for Mechanically Assisted Circulatory Support database were classified as cold and wet (pulmonary capillary wedge pressure >15 mm Hg) and cold and dry (pulmonary capillary wedge pressure ≤15 mm Hg) based on pre-LVAD hemodynamics obtained via right heart catheterization. The primary outcome was 1-year survival.

Long-Term Outcomes of Patients with Pre-Existing Essential Tremor After SARS-CoV-2 Infection.

Background/objectives: Although COVID-19 has been linked to worse outcomes in patients with neurological disorders, its impact on those with essential tremor (ET) remains unclear. To investigate clinical outcomes of ET patients with and without COVID-19 three and a half years post-pandemic.

Methods: 1074 ET patients were evaluated in this retrospective study in the Montefiore Health System from January 2016 to July 2023.

Galantamine-Memantine Combination in the Treatment of Parkinson's Disease Dementia.

Parkinson's disease (PD) is a progressive neurodegenerative disorder that affects over 1% of population over age 60. It is defined by motor and nonmotor symptoms including a spectrum of cognitive impairments known as Parkinson's disease dementia (PDD). Currently, the only US Food and Drug Administration-approved treatment for PDD is rivastigmine, which inhibits acetylcholinesterase and butyrylcholinesterase increasing the level of acetylcholine in the brain.

Comparisons of Intravesical Treatments with Mitomycin C, Gemcitabine, and Docetaxel for Recurrence and Progression of Non-Muscle Invasive Bladder Cancer: Updated Systematic Review and Meta-Analysis.

Non-muscle-invasive bladder cancer (NMIBC) comprises about 75% of all bladder cancers. Although NMIBC is treatable, it poses significant costs and burdens to patients due to high recurrence rates. We conducted an updated meta-analysis of studies that evaluated the efficacy of and outcomes after treatment with mitomycin C (MMC), gemcitabine (GEM), and docetaxel (DOCE) for NMIBC recurrence and progression.

Employer Perspective on Pain Fellowship Education: A Survey to Understand the Current State of Pain Medicine Training.

Background: Pain medicine care has expanded to encompass a wider range of conditions, necessitating updated education and training for pain specialists to utilize emerging technologies effectively. A national survey was conducted through several verified Pain organizations regarding pain physician employers' perspectives on pain medicine fellowship training and education. The survey aimed to gather insights from a diverse range of geographic locations, practice types (academic and private practice), and practice settings.

Surgery for Patients With cT3/4N2M0, Stage IIIB NSCLC. Is It Time to Redefine Resectability?

Introduction: Chemoradiation followed by durvalumab is considered a standard approach for patients with locally advanced NSCLC. With improvements in perioperative and neoadjuvant approaches, there is renewed interest in offering surgery to carefully selected patients with cT3/4N2 stage IIIB cancer. We sought to assess survival outcomes after surgery as part of a multimodality treatment regimen for these patients.

Nuclear Cardiology Surrogate Biomarkers in Clinical Trials.

Nuclear cardiology offers a diverse range of imaging tools that provide valuable insights into myocardial perfusion, inflammation, metabolism, neuroregulation, thrombosis, and microcalcification. These techniques are crucial not only for diagnosing and managing cardiovascular conditions but also for gaining pathophysiologic insights. Surrogate biomarkers in nuclear cardiology, represented by detectable imaging changes, correlate with disease processes or therapeutic responses and can serve as endpoints in clinical trials when they demonstrate a clear link with these processes.

Incidence of Adjacent Synchronous Ipsilateral Infiltrating Carcinoma and/or Ductal Carcinoma In Situ in Patients Diagnosed with Flat Epithelial Atypia by Core Needle Biopsy (TBCRC 034).

Background: Flat epithelial atypia (FEA), a rare breast proliferative lesion, is often diagnosed following core biopsy (CB) of mammographic microcalcifications. In the prospective multi-institution TBCRC 034 trial, we investigate the upgrade rate to ductal carcinoma in situ (DCIS) or invasive cancer following excision for patients diagnosed with FEA on CB.

Patients And Methods: Patients with a breast imaging reporting and data system (BI-RADS) ≤ 4 imaging abnormality and a concordant CB diagnosis of FEA were identified for excision.

Brugada Syndrome and Kawasaki Disease in a Two-Year-Old: A Case of Double Jeopardy.

Brugada syndrome (BrS) is a genetic channelopathy that may predispose to ventricular arrhythmia. It is inherited as an autosomal dominant pattern with incomplete penetrance. Fever can unmask Brugada syndrome in children who have a genetic predisposition.

Novel Presentation of Lichenoid Dermatoses Preceding Bullous Pemphigoid Secondary to Immune Checkpoint Inhibitor Therapy.

The 73-year-old non-Hispanic, African-American man with a history of renal cell carcinoma (RCC), status post-nephrectomy receiving Lenvatinib, and metastatic disease, for which he also had received nivolumab for 13½ months. An itchy eruption appeared one month after the discontinuation of nivolumab and after the beginning of axitinib therapy. Physical examination revealed pink-violaceous scaly plaques, some with trailing scales on the anterior aspect of the trunk (Figure 1), a slight erosion on the hard palate, and hypopigmentation on the hands and legs.

Large Nevus Lipomatosus Cutaneous Superficialis in the Skin of Color.

A 15-year-old African-American man (Fitzpatrick skin type V) presented to the outpatient dermatology clinic with a large, verrucous, exophytic mass measuring 3.5 × 2.3 cm on the right lateral side of the posterior flank (Figure 1).

Importance of reference group selection in the evaluation of cancer incidence.

Elevated cancer incidence has been reported among World Trade Center (WTC)-exposed responders, with some incidence rate ratios (IRRs) varying over time. This study describes the influence that different reference populations have on relative cancer incidence and temporal trends. Participants from the WTC Combined Rescue/Recovery Cohort (n = 65,691) were observed between 1/1/2002 and 12/31/2015 using data obtained from 13 state cancer registries.

Phenotyping atherosclerotic plaque and perivascular adipose tissue: signalling pathways and clinical biomarkers in atherosclerosis.

Computed tomography coronary angiography provides a non-invasive evaluation of coronary artery disease that includes phenotyping of atherosclerotic plaques and the surrounding perivascular adipose tissue (PVAT). Image analysis techniques have been developed to quantify atherosclerotic plaque burden and morphology as well as the associated PVAT attenuation, and emerging radiomic approaches can add further contextual information. PVAT attenuation might provide a novel measure of vascular health that could be indicative of the pathogenetic processes implicated in atherosclerosis such as inflammation, fibrosis or increased vascularity.