PNPLA3 risk allele is associated with risk of hepatocellular carcinoma but not decompensation in compensated cirrhosis.

Background: The PNPLA3-rs738409-G, TM6SF2-rs58542926-T, and HSD17B13-rs6834314-A polymorphisms have been associated with cirrhosis, hepatic decompensation, and HCC. However, whether they remain associated with HCC and decompensation in people who already have cirrhosis remains unclear, which limits the clinical utility of genetics in risk stratification as HCC is uncommon in the absence of cirrhosis. We aimed to characterize the effects of PNPLA3, TM6SF2, and HSD17B13 genotype on hepatic decompensation, HCC, and liver-related mortality or liver transplant in patients with baseline compensated cirrhosis.

X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED): A Case Report and Overview of the Diagnosis and Multidisciplinary Modality Treatments.

Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder caused by a mutation in either the ectodysplasin (EDA), ectodysplasin A receptor (EDAR), EDAR associated via death domain (EDARADD), or Wnt family member 10A (WNT10A) genes that result in impaired development of ectodermal-derived structures. The literature defines two types of ectodermal dysplasia, which are hypohidrotic and hidrotic. X-linked hypohidrotic ectodermal dysplasia (XLHED), also known as Christ-Siemens-Touraine syndrome, is the most common form and is a variant of ectodermal dysplasia characterized by a classical triad of hypo/adontia, hypohidrosis, and hypotrichosis; whereas, hidrotic type of ectodermal dysplasia, also known as Clouston syndrome, is characterized by a triad of onychodysplasia, hypotrichosis, and palmoplantar hyperkeratosis while sparing the sweat glands.

Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: facilitating research through infrastructure, workforce, resources and funding.

Background: The National Hemophilia Foundation (NHF) conducted extensive, inclusive community consultations to guide prioritization of research in coming decades in alignment with its mission to find cures and address and prevent complications enabling people and families with blood disorders to thrive.

Research Design And Methods: With the American Thrombosis and Hemostasis Network, NHF recruited multidisciplinary expert working groups (WG) to distill the community-identified priorities into concrete research questions and score their feasibility, impact, and risk. WG6 was charged with identifying the infrastructure, workforce development, and funding and resources to facilitate the prioritized research.

Oncocytic Cell Carcinoma of the Thyroid: A Case Report and an Overview of the Diagnosis, Treatment Modalities, and Prognosis.

Cancers of the thyroid gland are uncommon, accounting for 1% of malignant tumors. Oncocytic carcinoma of the thyroid (OCA), previously known as "Hürthle cell" carcinomas, make up 3% to 5% of all thyroid cancers and are extremely rare. In the United States, the incidence of thyroid cancer is approximately 12 per 100,000 per year and increases with age.

A Rare Case of Primary Cutaneous Signet-Ring Cell Melanoma With Discrepant Findings on Gene Expression Profiling and Chromosomal Microarray Analysis.

Melanoma with signet ring cell features is an exceptionally rare variant of primary cutaneous and metastatic melanoma. The molecular mechanisms underlying this unusual cytologic phenotype in malignant melanocytes are largely unknown. In this report, we aim to add to the literature by describing the histomorphological, immunophenotypic, gene expression, and cytogenetic findings in 1 recently encountered case.

An unusual case report of stress-induced cardiomyopathy presenting as ventricular fibrillation cardiopulmonary arrest and third-degree atrioventricular block.

Background: Takotsubo cardiomyopathy (TCM) can clinically present as an acute coronary syndrome; however, the former has regional wall motion abnormalities that extend beyond a single coronary vascular territory without any plaque rupture. Takotsubo cardiomyopathy classically involves apical ballooning of left ventricle (LV). It is uncommon for TCM to present as cardiopulmonary arrest (CPA) along with third-degree atrioventricular (AV) block.

Global Impact of COVID-19 on Stroke Care and IV Thrombolysis.

Objective: To measure the global impact of COVID-19 pandemic on volumes of IV thrombolysis (IVT), IVT transfers, and stroke hospitalizations over 4 months at the height of the pandemic (March 1 to June 30, 2020) compared with 2 control 4-month periods.

Methods: We conducted a cross-sectional, observational, retrospective study across 6 continents, 70 countries, and 457 stroke centers. Diagnoses were identified by their ICD-10 codes or classifications in stroke databases.

Metaanalysis Reveals Genetic Correlates of Osteoporosis Pathogenesis.

Objective: Osteoporosis is a growing healthcare burden. By identifying osteoporosis-promoting genetic variations, we can spotlight targets for new pharmacologic therapies that will improve patient outcomes. In this metaanalysis, we analyzed mesenchymal stem cell (MSC) biomarkers in patients with osteoporosis.

Review article: Patient characteristics that act as risk factors for intraoperative complications in hip, knee, and shoulder arthroplasties.

The number of annual THA's, TKA's, and TSA's is set to increase significantly by the year 2030, making it imperative to understand the risks for negative outcomes in these procedures. While research has studied the patient risk factors for perioperative and postoperative complications, there has been relatively little research for intraoperative complications. After a thorough literature review, the most supported finding was that patients with a BMI >30 had significantly more intraoperative blood loss than those with a BMI <30.

Aspirin in the Treatment and Prevention of Migraine Headaches: Possible Additional Clinical Options for Primary Healthcare Providers.

Migraine headaches are among the most common and potentially debilitating disorders encountered by primary healthcare providers. In the treatment of acute migraine and the prevention of recurrent attacks, there are prescription drugs of proven benefit. However, for those without health insurance or high co-pays, these drugs may be neither available nor affordable and, for all patients, they may be either poorly tolerated or contraindicated.

Brachial distal biceps injuries.

Distal biceps injuries are a relatively uncommon clinical condition that typically affect middle-aged males. They commonly occur due to an eccentric overload as the arm is forced from a flexed to extended position. Patients may experience an acute 'pop' and present with arm pain, swelling, and ecchymosis.

Review article: Current literature on surgical checklists and handoff tools and application for orthopaedic surgery.

Despite the adaptation of checklists for specific surgeries being developed, there remains a lack of an available standard for an orthopaedic-specific checklist. Benefits of implementing checklists include cost-effectiveness as well as the ability to significantly reduce both mortality and complication rates in a variety of healthcare settings. The aim of this review is to analyze the evidence surrounding the effectiveness of checklists as well as recommend for the development of a standard checklist for specific orthopaedic surgeries such as total joint arthroplasty (TJA).

A Versatile Method for Immunofluorescent Staining of Cells Cultured on Permeable Membrane Inserts.

BACKGROUND Obtaining high-quality images of cellular structures via immunofluorescence staining is critical for cellular localization studies. Often, these studies cannot be performed in parallel with certain oncology, virology, pharmacokinetic, and drug absorption studies due to model system technicalities requiring the cells to be cultured on porous membranes rather than glass or plastic. MATERIAL AND METHODS Here, we report a method of immunofluorescent staining of cells cultured on permeable membranes.

Overtesting and the Downstream Consequences of Overtreatment: Implications of "Preventing Overdiagnosis" for Emergency Medicine.

Overtesting, the downstream consequences of overdiagnosis, and overtreatment of some patients are topics of growing debate within emergency medicine (EM). The "Preventing Overdiagnosis" conference, hosted by The Dartmouth Institute for Health Policy and Clinical Practice, with sponsorship from consumer organizations, medical journals, and academic institutions, is evidence of an expanding interest in this topic. However, EM represents a compellingly unique environment, with increased decision density tied to high stakes for patients and providers with missed or delayed diagnoses in a professional atmosphere that does not tolerate mistakes.

Genetic investigation of multicentric glioblastoma multiforme: case report.

The authors report a case of multicentric glioblastoma multiforme (GBM) in which all 4 tumor foci were resected and evaluated using both comparative genomic hybridization array and RNA sequencing. Genetic analysis showed that the tumors shared a common origin, although each had its own unique set of genetic aberrations. The authors note that the genetic heterogeneity of multicentric GBM likely contributes to the failures of current treatments.

Adding urine and saliva toxicology to SBIRT for drug screening of new patients.

Background And Objectives: To determine illicit drug use among new patients in primary medical care who denied using "street drugs" during Screening, Brief Intervention and Referral to Treatment (SBIRT).

Methods: 96 new patients who denied use of "street drugs" were tested for drugs as part of routine SBIRT screening.

Results: Of those tested, 14.

Feasibility of implementing molecular-guided therapy for the treatment of patients with relapsed or refractory neuroblastoma.

The primary objective of the study was to evaluate the feasibility and safety of a process which would utilize genome-wide expression data from tumor biopsies to support individualized treatment decisions. Current treatment options for recurrent neuroblastoma are limited and ineffective, with a survival rate of <10%. Molecular profiling may provide data which will enable the practitioner to select the most appropriate therapeutic option for individual patients, thus improving outcomes.

Oncolytic adenoviruses: A thorny path to glioma cure.

Glioblastoma Multiforme (GBM) is a rapidly progressing brain tumor. Despite the relatively low percentage of cancer patients with glioma diagnoses, recent statistics indicate that the number of glioma patients may have increased over the past decade. Current therapeutic options for glioma patients include tumor resection, chemotherapy, and concomitant radiation therapy with an average survival of approximately 16 months.

PCI-24781 (abexinostat), a novel histone deacetylase inhibitor, induces reactive oxygen species-dependent apoptosis and is synergistic with bortezomib in neuroblastoma.

In this study, we investigated the cytotoxic effects of a broad-spectrum histone deacetylase (HDAC) inhibitor, PCI-24781, alone and in combination with the proteasome inhibitor bortezomib in neuroblastoma cell lines. The combination was shown to induce synergistic cytotoxity involving the formation of reactive oxygen species. The cleavage of caspase-3 and PARP, as determined by western blotting, indicated that cell death was primarily due to apoptosis.

Incidence, mortality, and risk factors for oral anticoagulant-associated intracranial hemorrhage in patients with atrial fibrillation.

Warfarin, a vitamin K epoxide reductase inhibitor, is the oral anticoagulant most commonly used to reduce the risk of stroke in patients with atrial fibrillation (AF). Warfarin has proved to be efficacious for this purpose in multiple clinical trials. However, warfarin use is laborious and associated with an increased risk of intracranial hemorrhage (ICH).