Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphoma.

Familial aggregation of Hodgkin lymphoma (HL) has been demonstrated in large population studies, pointing to genetic predisposition to this hematological malignancy. To understand the genetic variants associated with the development of HL, we performed whole genome sequencing on 234 individuals with and without HL from 36 pedigrees that had 2 or more first-degree relatives with HL. Our pedigree selection criteria also required at least 1 affected individual aged <21 years, with the median age at diagnosis of 21.

An introduction to the WHO 5th edition 2022 classification of testicular tumours.

The 5th edition of the World Health Organisation Blue Book was published recently and includes a comprehensive update on testicular tumours. This builds upon the work of the 4th edition, retaining its structure and main nomenclature, including the use of the term 'germ cell neoplasia in situ' (GCNIS) for the pre-invasive lesion of most germ cell tumours and division from those not derived from GCNIS. While there have been important developments in understanding the molecular underpinnings of testicular cancer, this updated classification paradigm and approach remains rooted in morphology.

Overcompensation of CoA Trapping by Di(2-ethylhexyl) Phthalate (DEHP) Metabolites in Livers of Wistar Rats.

Di(2-ethylhexyl) phthalate (DEHP) is commonly used as a plasticizer in various industrial and household plastic products, ensuring widespread human exposures. Its routine detection in human bio-fluids and the propensity of its monoester metabolite to activate peroxisome proliferator activated receptor-α (PPARα) and perturb lipid metabolism implicate it as a metabolic disrupter. In this study we evaluated the effects of DEHP exposure on hepatic levels of free CoA and various CoA esters, while also confirming the metabolic activation to CoA esters and partial β-oxidation of a DEHP metabolite (2-ethyhexanol).

Review of Insulin Resistance in Dilated Cardiomyopathy and Implications for the Pediatric Patient Short Title: Insulin Resistance DCM and Pediatrics.

Energy metabolism in the heart is affected during states of dysfunction. Understanding how the heart utilizes substrates in cardiomyopathy may be key to the development of alternative treatment modalities. Myocardial insulin resistance has been proposed as a possible barrier to effective glucose metabolism in the heart.

Survival outcomes in sinonasal carcinoma with neuroendocrine differentiation: A NCDB analysis.

Background: Sinonasal carcinoma with neuroendocrine differentiation (SCND) is a rare group of tumors with poor prognosis. Treatment and sequence of therapies are still unclear. The goal of this study is to analyze treatment outcomes in SCND using a national database.

Comparison of 3 Different Prothrombin Complex Concentrate Regimens for Emergent Warfarin Reversal: PCCWaR Study.

Background: The ideal dose and specific prothrombin complex concentrate (PCC) for warfarin reversal is unknown.

Objective: To evaluate the reduction in international normalized ratio (INR) of 3 different PCC dosing regimens: fixed-dose activated 4-factor PCC (aPCC), fixed-dose 4-factor PCC (4PCC), and standard-dose 4PCC.

Methods: This was a multicenter retrospective cohort review.

The Effect of Wheel Exercise on Functional Indices of Cachexia in Tumor-bearing Mice.

Introduction: Cancer-related fatigue and muscle wasting have received significant attention over the last few decades with the goal of establishing interventions that can improve cancer patient life quality and survival. Increased physical activity has shown to reduce cancer-associated fatigue and has been proposed as a promising therapeutic to attenuate cancer-induced wasting. However, significant gaps remain in our understanding of how physical activity affects the compositional and functional changes that initiate muscle wasting.

Role and mechanism of autophagy-regulating factors in tumorigenesis and drug resistance.

A hallmark feature of tumorigenesis is uncontrolled cell division. Autophagy is regulated by more than 30 genes and it is one of several mechanisms by which cells maintain homeostasis. Autophagy promotes cancer progression and drug resistance.

Outcomes in Anomalous Aortic Origin of a Coronary Artery Following a Prospective Standardized Approach.

Background: Anomalous aortic origin of a coronary artery (CA) is the second leading cause of sudden cardiac death in young athletes. Management is controversial and longitudinal follow-up data are sparse. We aim to evaluate outcomes in a prospective study of anomalous aortic origin of CA patients following a standardized algorithm.

Targeting DCN1-UBC12 Protein-Protein Interaction for Regulation of Neddylation Pathway.

Protein neddylation is one type of posttranslational modifications that regulates the activity of the substrate proteins. Neddylation modification is catalyzed by NEDD8-activating enzyme (NAE, E1), NEDD8-conjugating enzyme (E2), and NEDD8 ligase (E3) to attach NEDD8, an ubiquitin-like molecule, to a lysine residue of a substrate protein. The best known neddylation substrates are cullin family members, which are scaffold components of cullin-RING ligases (CRLs), and cullin neddylation is required for activation of CRLs.

False Identity: Lymphoid Hyperplasia Imitating a Large Paraganglioma.

The danger of the parapharyngeal space mass comes from the small space and vital neighboring structures. Its differential diagnosis is broad, however benign lymphoid hyperplasia in this region has not been previously reported. The clinical presentation, imaging, surgical findings and pathology slides were reviewed in an adult patient with a parapharyngeal space mass.

Understanding Culture in Context: An Important Next Step for Patient Emotional Well-Being and Nursing.

The impact of culture on health has gained considerable importance in care delivery. This review discusses the complex interaction of culture and social determinants, and the combined impact of these on emotional well-being. Examples of this interaction are presented and recommendations for change within nursing to improve care are discussed.

Prospective pilot trial with combination of propranolol with chemotherapy in patients with epithelial ovarian cancer and evaluation on circulating immune cell gene expression.

Objective: To determine the feasibility of pharmacologic beta-adrenergic blockade in women with newly diagnosed stage II-IV epithelial ovarian cancer (EOC) throughout primary treatment.

Methods: Patients initiated propranolol prior to beginning chemotherapy or surgery. Feasibility was assessed as proportion able to complete 6 chemotherapy cycles while on adrenergic suppression.

Ross-Konno Operation in an Infant With a Quadricuspid Pulmonary Valve and Anomalous Aortic Origin of the Right Coronary Artery.

Anomalous aortic origin of the right coronary artery from the left aortic sinus is a rare congenital anomaly that is generally repaired during adolescence when the condition is associated with symptoms. It is rarely diagnosed in infancy. Similarly, a quadricuspid pulmonary valve is also a rare finding, and there are scant data to evaluate whether this malformation of the pulmonary valve is suitable to be used for a Ross operation.

Involvement of PDZ-SAP97 interactions in regulating AQP2 translocation in response to vasopressin in LLC-PK cells.

Arginine-vasopressin (AVP)-mediated translocation of aquaporin-2 (AQP2) protein-forming water channels from storage vesicles to the membrane of renal collecting ducts is critical for the renal conservation of water. The type-1 PDZ-binding motif (PBM) in AQP2, "GTKA," is a critical barcode for its translocation, but its precise role and that of its interacting protein partners in this process remain obscure. We determined that synapse-associated protein-97 (SAP97), a membrane-associated guanylate kinase protein involved in establishing epithelial cell polarity, was an avid binding partner to the PBM of AQP2.

An Unusual Cause of Epistaxis: Paranasal Sinus Myeloid Sarcoma.

We report a case of a 65-year-old female who presented with right-sided headaches, blurring of vision in the right eye, cold-induced epistaxis, and facial numbness in the trigeminal nerve distribution. Laboratory studies revealed a significant number of myeloblasts on peripheral smear with granulated cytoplasm, irregular nuclei, and prominent vacuoles. Magnetic resonance imaging (MRI) of the brain demonstrated a T1-enhancing 1.

Variability in perioperative evaluation and resource utilization in pediatric patients with suspected biliary dyskinesia: A multi-institutional retrospective cohort study.

Introduction: Biliary dyskinesia (BD) is a common indication for pediatric cholecystectomy. While diagnosis is primarily based on diminished gallbladder ejection fraction (GB-EF), work-up and management in pediatrics is controversial.

Methods: We conducted a multi-institutional retrospective review of children undergoing cholecystectomy for BD to compare perioperative work-up and outcomes.

Sepsis management and the pediatric surgeon.

Sepsis is a life-threatening condition that requires aggressive, timely, and multi-disciplinary care. Understanding the changes in national guidelines regarding definitions, diagnosis and the management of pediatric sepsis is critical for the pediatric surgeon participating in the care of these patients. The purpose of this article is to review the essential steps for the timely management of pediatric sepsis, including fluid resuscitation, antibiotics, vasopressors, and steroids.

Cardiac Catheterization in Assessment and Treatment of Kawasaki Disease in Children and Adolescents.

Cardiac catheterization has become a promising tool to assess and treat coronary artery lesions in patients with Kawasaki disease. Significant coronary artery lesions can now be treated via transcatheter route even in small children. Further development and miniaturization of this technology will help to promote widespread use to the benefit of small children suffering from coronary artery disease.

Vaginal Anatomy on MRI: New Information Obtained Using Distention.

Objectives: To demonstrate and confirm the presence of three anatomic zones of the vagina (a superficial sphincteric zone; a central wedge shaped transition zone; and a deep, expanded forniceal zone) using pelvic magnetic resonance imaging with contrast distention of the vagina.

Methods: A total of 107 consecutive female pelvic magnetic resonance imaging scans using vaginal contrast distention were retrospectively reviewed. The images were observed for the three-zone configuration.

Improved 6 Minute Walk Distance and Brain-Type Natriuretic Peptide After Continuous-Flow Ventricular Assist Device Placement in Children.

Despite increasing continuous-flow ventricular assist device (CF-VAD) use in children, minimal data exist regarding the functional recovery and rehabilitation potential after device placement. We hypothesized that after CF-VAD implantation, children would demonstrate a time-limited improvement in 6 minute walk distance (6MWD) and brain-type natriuretic peptide (BNP). A retrospective cohort study of 27 patients was conducted, those <18 years of age at a tertiary-care center during the study period.

Laparoscopic Surgical Algorithm to Triage the Timing of Tumor Reductive Surgery in Advanced Ovarian Cancer.

Objective: To estimate the effects of a laparoscopic scoring algorithm to triage patients with advanced ovarian cancer to immediate or delayed debulking to improve complete gross surgical resection rates and determine the resulting clinical outcomes.

Methods: We prospectively performed laparoscopic assessment on patients with suspected advanced-stage ovarian cancer from April 2013 to December 2016 to determine primary resectability at tumor reductive surgery. Patients with medically inoperable or distant metastatic disease received neoadjuvant chemotherapy.