Precision medicine in catecholaminergic polymorphic ventricular tachycardia: Recent advances toward personalized care.

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited cardiac ion channelopathy where the initial disease presentation is during childhood or adolescent stages, leading to increased risks of sudden cardiac death. Despite advances in medical science and technology, several gaps remain in the understanding of the molecular mechanisms, risk prediction, and therapeutic management of patients with CPVT. Recent studies have identified and validated seven sets of genes responsible for various CPVT phenotypes, including RyR2, CASQ-2, TRDN, CALM1, 2, and 3, and TECRL, providing novel insights into the molecular mechanisms.

Hormonally Silent Multifocal Pheochromocytoma in the Setting of a Well-Differentiated Neuroendocrine Tumor of the Appendix: A Case Report.

Pheochromocytomas (PCCs) and paragangliomas (PGLs) represent tumors arising from chromaffin cells of the adrenal medulla and extra-adrenal sympathetic paraganglia, respectively. PCCs commonly produce one or more catecholamines (epinephrine, norepinephrine, and dopamine), but rarely are they biochemically silent. PGLs on the other hand, generally do not produce catecholamines.

Rising Trends in Metabolically Healthy Obesity in Cancer Patients and Its Impact on Cardiovascular Events: Insights from a Contemporary Nationwide Analysis in the USA (2016-2020).

Obesity or overweight raises the risk of developing 13 types of cancer, representing 40% of all cancers diagnosed in the United States annually. Given the ongoing debate surrounding the impact of metabolically healthy obesity (MHO) on cardiovascular outcomes, it is crucial to comprehend the incidence of Major Adverse Cardiovascular and Cerebrovascular Events (MACCEs) and the influence of MHO on these outcomes in cancer patients. Data of hospitalized cancer patients with and without obesity were analyzed from the National Inpatient Sample 2016-2020.

Utility of fractional excretion of urea in acute kidney injury with comparison to fractional excretion of sodium: A systematic review and meta-analysis.

Background: Differentiating between intrinsic and prerenal acute kidney injury (AKI) presents a challenge. Here, we assessed the performance of the fractional excretion of urea (FEUrea) and compared it to the fractional excretion of sodium (FENa) in distinguishing intrinsic from prerenal AKI.

Methods: A thorough search was conducted in several databases until January 16, 2024.

Sociodemographic predictors of hypertensive crisis in the hospitalized population in the United States.

Introduction: Hypertensive crisis (HC) encompasses hypertensive emergencies (HE) and urgencies (HU).

Methods: A retrospective analysis of the 2016-2020 National Inpatient Sample was conducted, and all hospitalizations for HC were identified with their ICD-10 codes. A probability estimation of outcomes was calculated by performing multivariable logistic regression analysis, which took confounders into account.

Emerging Tick-borne Infections in the Upper Midwest and Northeast United States Among Patients With Suspected Anaplasmosis.

Background: Emerging tick-transmitted illnesses are increasingly recognized in the United States (US). To identify multiple potential tick-borne pathogens in patients from the Upper Midwest and Northeast US with suspected anaplasmosis, we used state-of-the-art methods (polymerase chain reaction [PCR] and paired serology) to test samples from patients in whom anaplasmosis had been excluded.

Methods: Five hundred sixty-eight patients without anaplasmosis had optimal samples available for confirmation of alternative tick-borne pathogens, including PCR and/or paired serology (acute-convalescent interval ≤42 days).

Abbreviated Urine Collection Compared With 24-Hour Urine Collection for Measuring Creatinine Clearance in Adult Critically Ill Patients: A Systematic Review.

Objective: To evaluate the accuracy of abbreviated urine collection (≤12 hours) compared with 24-hour urine collection for measuring creatinine clearance (CrCl) in critically ill adult patients.

Data Sources: We searched PubMed, Embase, Web of Science, Google Scholar, and ProQuest Dissertations and Thesis Global; screened reference lists of included studies; and contacted the authors when needed. English studies only were considered with no restriction on dates.

Metabolic Fingerprint in Childhood Acute Lymphoblastic Leukemia.

Introduction: Acute lymphoblastic leukemia (ALL) is the most prevalent childhood malignancy. Despite high cure rates, several questions remain regarding predisposition, response to treatment, and prognosis of the disease. The role of intermediary metabolism in the individualized mechanistic pathways of the disease is unclear.

Bowel endometriosis: Surgical customization is demanding.

Bowel endometriosis is the most common form of severe deep endometriosis. Surgery is an option in case of infertility and/or chronic pain or in the presence of a stenotic lesion. Clinical examination and preoperative imaging must provide an identity card of the lesion so that customized surgery can be proposed.

Minority Student Perceptions of the Impact of Financial Cost of Pharmacy School and Career Choice at a Historically Black College and University (HBCU).

Objective: One of the barriers that might prevent an underrepresented minority (URM) individual from pursuing a professional career in the United States is finances. The high disproportionate burden of student debt among URM students further perpetuates the racial wealth gap. Therefore, this study sought to evaluate the extent to which URM students' personal finance perceptions, and current and projected student loan indebtedness affect postgraduation career intentions.

Exceptional synergistic response of PARP inhibitor and immune checkpoint inhibitor in esophageal adenocarcinoma with a germline BRCA2 mutation: a case report.

Immune checkpoint inhibitors (ICIs) and poly (ADP-ribose) polymerase (PARP) inhibitors have shown efficacy in various tumors. A significant therapeutic challenge with either ICIs or PARP inhibitors as monotherapy is treatment failure from intrinsic primary resistance or the development of secondarily acquired resistance after a period of responsiveness. The combination of PARP inhibitors and ICIs could mitigate this by potentiating treatment response.

Percutaneous Intramedullary Application of Stem Cells for Fifth Metatarsal Fractures Treated With a Cannulated Screw.

Non-union and refracture of fifth metatarsal fractures are common and devastating complications in the athletic population. Stem cell application at the fracture site, for biologic enhancement, is utilized to address this challenge. We present a simple technique to approach both the endosteum and the periosteum percutaneously, under a local anesthetic, in cases of cannulated screw intramedullary fixation.

A Novel Immunodeficiency Identified in a Subset of Cavalier King Charles Spaniels with and Pneumonia.

Pet dogs are a valuable natural animal model for studying relationships between primary immunodeficiencies and susceptibility to and other opportunistic respiratory pathogens. Certain breeds, such as the Cavalier King Charles Spaniel, are over-represented for pneumonia (PCP), suggesting the presence of a primary immunodeficiency in the breed. Here, we report the discovery of a nonsense variant in three Cavalier King Charles Spaniel dogs with either PCP (n = 2) or refractory pneumonia (n = 1).

Predictors of mortality and burden of arrhythmias in endstage heart failure.

Background: Heart failure (HF) is a significant cause of morbidity and mortality in the United States, contributing to approximately 1 in 8 deaths. Individuals with end-stage HF (eHF) experience debilitating symptoms leading to poor quality of life (QoL).

Methods: We used the ICD-10 code for eHF (I5084) from the National Inpatient Sample (NIS) (2016-2020) to identify all patients with eHF.

Association between a low-risk COVID-19 extracorporeal membrane oxygenation criteria and mortality: A retrospective study.

Objective: Our study aimed to compare the outcomes of COVID-19 patients who met a low-risk inclusion criteria for veno-venous extra corporeal membrane oxygenation (VV ECMO) with those who did not meet criteria due to higher risk but were subsequently cannulated.

Methods: This was a retrospective observational cohort study that included adult patients who were placed on VV ECMO for COVID-19 related acute respiratory distress syndrome (ARDS) at a tertiary care academic medical center. The primary outcome was the association between the low-risk criteria and mortality.

Laparoscopic Cystectomy for a 20-Centimetre Ovarian Endometrioma in a Subfertile Patient: Α Case Report.

Large ovarian endometriomas may cause severe pressure symptoms and often require surgical management. The laparoscopic approach, although challenging, is feasible and safe when performed by surgeons with advanced minimal access skills, provided that certain rules are respected. We report a case of a 40-year-old, nulliparous patient with a history of endometriosis, low ovarian reserve, and subfertility who presented with a 20-cm left ovarian endometrioma and associated symptoms, managed successfully by laparoscopic cystectomy.

Eosinophilic Enteritis Causing Recurrent Small Bowel Obstruction: A Case Report.

Eosinophilic enteritis is an inflammatory condition characterized by eosinophilic infiltration of the gastrointestinal tract. This case report highlights a unique presentation of eosinophilic enteritis as a cause of recurrent small bowel obstruction. The diagnosis was elusive despite extensive abdominal imaging.

Inflammatory Bowel Disease Disability Index is a valid and reliable measure of disability in an English-speaking hospital practice and predicts long-term requirement for treatment escalation.

Objective: The Inflammatory Bowel Disease Disability Index (IBD-DI) was developed according to WHO standards and has been validated in population-based cohorts. However, there are limited data on its relationship to various psychosocial and economic variables or its relevance to hospital clinical practice. The study aims were to determine the validity and reliability of the IBD-DI in an English-speaking hospital out-patient population and to evaluate its association with short and long-term disease activity.

Traumatic Brain Injury, Psychological Trauma Exposure, and Anxious and Depressive Symptoms in a Clinical Population.

Background: Approximately 90% of adults endorse psychological trauma exposure. However, barriers to assessment of psychological trauma and sequelae include limited access to care, lack of standardized assessments in nonpsychiatric settings, and comorbid diagnoses, such as traumatic brain injury (TBI), that may mimic psychiatric syndromes.

Objectives: This study aims to assess the prevalence rates of psychological trauma exposure and TBI to understand the relationship of these experiences with current psychiatric symptoms.