CA-125 as a Biomarker in Renal Medullary Carcinoma: Integrated Molecular Profiling, Functional Characterization, and Prospective Clinical Validation.

Purpose: Renal medullary carcinoma (RMC) is a highly aggressive malignancy defined by the loss of the SMARCB1 tumor suppressor. It mainly affects young individuals of African descent with sickle cell trait, and it is resistant to conventional therapies used for other renal cell carcinomas. This study aimed to identify potential biomarkers for early detection and disease monitoring of RMC.

High risk of drug-resistant tuberculosis in IGRA-negative contacts: should preventive treatment be considered?

Purpose: Deciding whether to provide preventive treatment to contacts of individuals with multidrug-resistant (MDR) tuberculosis is complex.

Methods: We present the diagnostic pathways, clinical course and outcome of tuberculosis treatment in eight siblings from a single family. Tuberculosis disease was diagnosed by Mycobacterium tuberculosis culture and molecular detection of M.

Lateral hypothalamic area high-frequency deep brain stimulation rescues memory decline in aged rat: behavioral, molecular, and electrophysiological study.

To examine the effect of DBS of the lateral hypothalamic area (LHA) on age-related memory changes, neuronal firing from CA1, oxidative stress, and the expression of Hsp70, BDNF, and synaptophysin. 72 male rats were randomly allocated into 6 equal groups: a) normal young group (8 W), b) sham young group, c) DBS young group, d) normal old group (24 months), e) sham old group and f) DBS old group. Memory tests (passive avoidance and Y maze), oxidative stress markers (MDA, catalase, and GSH) and expression of Nrf2, HO-1, Hsp70, BDNF, and synaptophysin were measured by the end of the experiment.

"Update on pediatric primary liver tumors".

Liver masses are common in children, however primary malignant neoplasms are rare, representing only 1% of all pediatric cancers. Hepatocellular neoplasms are the most common primary liver malignancies and hepatoblastoma (HB) is the most frequently diagnosed. The incidence of HB, which is increasing, is approximately of 2 cases per million in the United States, followed by hepatocellular carcinoma (HCC).

Kidney organ injury scaling: 2025 update.

The American Association for the Surgery of Trauma initially published the organ injury scaling for the kidney in 1989, which was subsequently updated in 2018. This current American Association for the Surgery of Trauma kidney organ injury scaling update incorporates the latest evidence in diagnosis and management of renal trauma and is based upon a multidisciplinary consensus. These changes reflect the near universal use of computed tomography for renal trauma evaluation and the widespread adoption of conservative management across all grades of renal trauma.

Bone-Induced Her2 Promotes Secondary Metastasis in HR+/Her2- Breast Cancer.

Bone metastases can disseminate to secondary sites and promote breast cancer progression creating additional clinical challenges. The mechanisms contributing to secondary metastasis are barely understood. Here, we evaluate the prediction power of Her2-expressing (Her2E) circulating tumor cells (CTCs) after analyzing over 13,000 CTCs from a cohort of 137 metastatic breast cancer (MBC) patients with initial HR+/Her2- status and employ preclinical models of bone metastasis (BM) to validate the role of Her2E CTCs in multi-organ metastases.

Using Multiple Anthropomorphic Measures to Estimate Height in Muscular Dystrophies and Its Impact on Lung Function.

Background: An accurate height estimate is important for assessing pulmonary function, and body mass index. If a patient cannot stand, an accurate standing height cannot be directly measured. Knee-heel length, arm span, ulnar length, and tibial length have been studied in otherwise healthy populations as single measurements for height estimation.

Statin use is associated with protection against acute cholangitis in patients with primary sclerosing cholangitis: a multi-center retrospective cohort study.

Introduction: Patients with primary sclerosing cholangitis (PSC) are at increased risk for acute cholangitis. The epidemiological risks for cholangitis are poorly studied despite the high morbidity associated with this infection. This study's aim was to understand the impact of statins on acute cholangitis in PSC.

The infected diabetic foot: Risk factors for re-infection after treatment for diabetic foot osteomyelitis.

Our objective was to evaluate risk factors for re-infection in patients after treatment for diabetic foot osteomyelitis (OM). We used pooled patient level data from two RTCs that evaluated patients with diabetic foot infections. We evaluated 171 patients with OM.

Genetics, manifestations, and management of catecholaminergic polymorphic ventricular tachycardia.

Purpose Of Review: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a devastating heritable channelopathy that can lead to sudden cardiac death in children and young adults. This review aims to explore genetics, the cardiac and extracardiac manifestations of mutations associated with CPVT, and the challenges involved with managing phenotypically variable variants.

Recent Findings: The understanding of the genetics and mechanisms of CPVT continues to grow with recent discoveries including alternative splicing of cardiac TRDN and calmodulin gene variants.

Education Research: Trends of Neurology Clerkships in the United States Amidst a Global Pandemic.

Background And Objectives: To report a 2022 survey of US medical school neurology clerkship directors (CDs) and to compare the results with those of similar surveys conducted in 2005, 2012, and 2017.

Methods: An American Academy of Neurology (AAN) Consortium of Neurology Clerkship Directors (CNCD) workgroup developed the survey sent to all neurology CDs listed in the AAN CNCD database. Comparisons were made with 2005, 2012, and 2017 surveys.

Hyponatremia with an Osmolar Gap, Pseudohyponatremia or Hyper-Osmolar Hyponatremia?

Pseudohyponatremia is frequently misunderstood and often mistaken for other types of hyponatremia. In this study, we present a case of pseudohyponatremia resulting from hypertriglyceridemia. We provide an in-depth analysis of the pathophysiological mechanisms involved, comparing them with those of other hyponatremic disorders, and outline the diagnostic approach used to identify this atypical form of hyponatremia.

Branched-Chain Amino Acid Supplements for Sarcopenia in Liver Cirrhosis: A Systematic Review and Meta-analysis.

Background: Sarcopenia, a key aspect of malnutrition in liver cirrhosis (LC), affects 30-70% of LC patients. Given the inconsistent results from RCTs on branched-chain amino acids (BCAAs) for treating sarcopenia in LC, we conducted a systematic review and meta-analysis to assess the efficacy and safety of BCAAs for sarcopenia management in LC patients.

Methods: A systematic review and meta-analysis synthesizing evidence from RCTs obtained from PubMed, Embase, Cochrane, Scopus, and Web of Science from inception to April 2024.

Insights from social media into public perspectives on investigative genetic genealogy.

Social media sites like X (formerly Twitter) increasingly serve as spaces for the public to discuss controversial topics. Social media can spark extreme viewpoints and spread biased or inaccurate information while simultaneously allowing for debate around policy-relevant topics. The arrest of Joseph J.

Isolated Tibial Tubercle Fracture With and Without Combined Patellar Tendon Avulsion: Early Outcomes, Complications, and Reoperations.

Background: Tibial tubercle fractures (TTF) are uncommon injuries, comprising <3% of proximal tibial fractures. Rarely, they occur in conjunction with patellar tendon avulsion (PTA). We aimed to compare reoperation rates and short-term postoperative outcomes in patients with TTF versus combined injuries.

Genetic deficiency or pharmacological inhibition of cGAS-STING signalling suppresses kidney inflammation and fibrosis.

Background And Purpose: Chronic kidney disease (CKD) is characterised by inflammation, which can lead to tubular atrophy and fibrosis. The molecular mechanisms are not well understood. In this study, we investigated the functional role of the cyclic GMP-AMP synthase (cGAS)- stimulator of interferon genes (STING) signalling in renal inflammation and fibrosis.

Mixed vulnerabilities: the biological risk of high parity is aggravated by emergency referral in Benin, Malawi, Tanzania and Uganda.

Identification of interacting vulnerabilities is essential to reduce maternal and perinatal mortality in sub-Saharan Africa (SSA). High parity (≥ 5 previous births) is an underemphasized biological vulnerability linked to poverty and affecting a sizeable proportion of SSA births. Despite increased risk, high parity women rarely use hospitals for childbirth.

Systematic ocular phenotyping of 8,707 knockout mouse lines identifies genes associated with abnormal corneal phenotypes.

Purpose: Corneal dysmorphologies (CDs) are typically classified as either regressive degenerative corneal dystrophies (CDtrs) or defective growth and differentiation-driven corneal dysplasias (CDyps). Both eye disorders have multifactorial etiologies. While previous work has elucidated many aspects of CDs, such as presenting symptoms, epidemiology, and pathophysiology, the genetic mechanisms remain incompletely understood.

Cardiovascular Complications of Immune Effector Cell Therapies in Pediatric Hematological and Solid Tumors.

Background: Immune effector cell (IEC) therapies, including chimeric antigen receptor (CAR)-modified T-cell therapy, have shown efficacy in pediatric B-cell acute lymphoblastic leukemia (B-ALL) and are being investigated for other malignancies. A common toxicity associated with IEC therapy is cytokine release syndrome (CRS), which can lead to cardiovascular decompensation due to systemic inflammation. Data are limited regarding cardiovascular adverse effects in children.

A potential VEGF-driven hypothesis of calvarial centripetal proliferation in cerebral proliferative angiopathy.

Cerebral proliferative angiopathy (CPA) is a rare subtype of cerebral arteriovenous malformation, characterized by unique angiographic features and clinical presentations. Although the clinical and angiographic characteristics of CPA have been well described, their impact on the surrounding tissues remains underexplored. Herein, we investigated the presence of calvarial thickening in patients with CPA, and discuss its potential pathogenesis.

Association between chronic fatigue syndrome/myalgic encephalomyelitis and cardiovascular disease.

Chronic fatigue syndrome or myalgic encephalomyelitis (CFS/ME) is a medical condition characterized by severe and prolonged fatigue that is not relieved by rest or attributed to any underlying medical or psychological condition. Individuals with CFS/ME are considered to have an increased risk of a wide range of comorbid conditions, including cardiovascular disease (CVD). The association between CFS/ME and CVD is not fully understood.

Proteomic characterization and comparison of the infective and adult life stage secretomes from Necator americanus and Ancylostoma ceylanicum.

More than 470 million people globally are infected with the hookworms Ancylostoma ceylanicum and Necator americanus, resulting in an annual loss of 2.1 to 4 million disability-adjusted-life-years. Current infection management approaches are limited by modest drug efficacy, the costs associated with frequent mass drug administration campaigns, and the risk of reinfection and burgeoning drug resistance.

From Sheep to Sling: Pediatric Injuries Due to Rodeo Mutton Bustin'.

Background: Mutton Bustin' was developed as a safer alternative to rough stock rodeo events such as bull riding to allow kids to participate in the rodeo. Children hold on to the bareback of a running sheep until they fall, competing to see who can ride the longest. While reports of injuries due to other rodeo events are well described in the literature, there are no reports of Mutton Bustin'-associated injuries.