Perspective: Key Considerations When Developing and Publishing Dietary Interventions for Human Clinical Trials.

A key guiding principle in the 2020-2025 Dietary Guidelines for Americans emphasizes the need for individuals to choose eating habits that allows for personal, cultural, and traditional preferences while establishing a high-quality diet. This concept becomes a daunting task given the need to reduce the consumption of foods higher in saturated fat, sodium, and/or added sugar-which are typically found in familiar, highly palatable foods most-often liked and consumed in the United States. Similarly, in nutrition intervention studies, adherence to healthier dietary patterns is typically low because of many factors, including reduced taste, flavor, and familiarity to the study foods.

Expert United Kingdom consensus on the preservation of joint health in people with moderate and severe haemophilia A: A modified Delphi panel.

Aim: For people with haemophilia A (PwHA), bleeding in the joints leads to joint damage and haemophilia-related arthropathy, impacting range of motion and life expectancy. Existing guidelines for managing haemophilia A support healthcare professionals (HCPs) and PwHA in their efforts to preserve joint health. However, such guidance should be reviewed, considering emerging evidence and consensus as presented in this manuscript.

A British Society for Haematology Guideline: Diagnosis and management of thrombotic thrombocytopenic purpura and thrombotic microangiopathies.

The objective of this guideline is to provide healthcare professionals with clear, up-to-date and practical guidance on the management of thrombotic thrombocytopenic purpura (TTP) and related thrombotic microangiopathies (TMAs), including complement-mediated haemolytic uraemic syndrome (CM HUS); these are defined by thrombocytopenia, microangiopathic haemolytic anaemia (MAHA) and small vessel thrombosis. Within England, all TTP cases should be managed within designated regional centres as per NHSE commissioning for highly specialised services.

Using Herbs/Spices to Enhance the Flavor of Commonly Consumed Foods Reformulated to Be Lower in Overconsumed Dietary Components Is an Acceptable Strategy and Has the Potential to Lower Intake of Saturated Fat and Sodium: A National Health and Nutrition Examination Survey Analysis and Blind Tasting.

Background: Foods lower in saturated fat, sodium, and added sugars (ie, overconsumed dietary components) must have an acceptable flavor profile to promote intake.

Objective: The aim of this research was to model the influence of using herbs/spices as flavor-enhancers when reducing overconsumed dietary components in commonly consumed foods and evaluate acceptance of these flavor-enhanced reformulations.

Design: Ten leading sources of overconsumed dietary components were identified using the National Health and Nutrition Examination Survey 2015-2018 dietary data.

Quantitative Nuclear Grading: An Objective, Artificial Intelligence-Facilitated Foundation for Grading Noninvasive Papillary Urothelial Carcinoma.

In nonmuscle invasive bladder cancer, grade drives important treatment and management decisions. However, grading is complex and qualitative, and it has considerable interobserver and intraobserver variability. Previous literature showed that nuclear features quantitatively differ between bladder cancer grades, but these studies were limited in size and scope.

A Case of Right Subclavian Artery Agenesis.

The authors present a 12-year-old male with an asymptomatic absence of the proximal right subclavian artery. On physical examination, his right brachial, radial, and ulnar pulses were diminished compared with the left side. Computed tomographic angiography revealed that the right subclavian artery was supplied from the anterior right internal mammary artery.

Immunohistochemical Assays for Bladder Cancer Molecular Subtyping: Optimizing Parsimony and Performance of Lund Taxonomy Classifiers.

Transcriptomic and proteomic profiling classify bladder cancers into luminal and basal molecular subtypes, with controversial prognostic and predictive associations. The complexity of published subtyping algorithms is a major impediment to understanding their biology and validating or refuting their clinical use. Here, we optimize and validate compact algorithms based on the Lund taxonomy, which separates luminal subtypes into urothelial-like (Uro) and genomically unstable (GU).

Mutually exclusive mutation profiles define functionally related genes in muscle invasive bladder cancer.

Muscle Invasive bladder cancer is known to have an abundance of mutations, particularly in DNA damage response and chromatin modification genes. The role of these mutations in the development and progression of the disease is not well understood. However, a mutually exclusive mutation pattern between gene pairs could suggest gene mutations of significance.

Diagnostic and prognostic implications of a three-antibody molecular subtyping algorithm for non-muscle invasive bladder cancer.

Intrinsic molecular subtypes may explain marked variation between bladder cancer patients in prognosis and response to therapy. Complex testing algorithms and little attention to more prevalent, early-stage (non-muscle invasive) bladder cancers (NMIBCs) have hindered implementation of subtyping in clinical practice. Here, using a three-antibody immunohistochemistry (IHC) algorithm, we identify the diagnostic and prognostic associations of well-validated proteomic features of basal and luminal subtypes in NMIBC.

WGS and RNA Studies Diagnose Noncoding Variants in Males With High Creatine Kinase.

Objective: To describe the diagnostic utility of whole-genome sequencing and RNA studies in boys with suspected dystrophinopathy, for whom multiplex ligation-dependent probe amplification and exomic parallel sequencing failed to yield a genetic diagnosis, and to use remnant normal splicing in 3 families to define critical levels of wild-type dystrophin bridging clinical spectrums of Duchenne to myalgia.

Methods: Exome, genome, and/or muscle RNA sequencing was performed for 7 males with elevated creatine kinase. PCR of muscle-derived complementary DNA (cDNA) studied consequences for premessenger RNA (pre-mRNA) splicing.

Retrospective Quality Improvement Study of Insulin-Induced Hypoglycemia and Implementation of Hospital-Wide Initiatives.

Background: Hospitalized patients who are receiving antihyperglycemic agents are at increased risk for hypoglycemia. Inpatient hypoglycemia may lead to increased risk for morbidity, mortality, prolonged hospitalization, and readmission within 30 days of discharge, which in turn may lead to increased costs. Hospital-wide initiatives targeting hypoglycemia are known to be beneficial; however, their impact on patient care and economic measures in community nonteaching hospitals are unknown.

Asymptomatic Joint Bleeding and Joint Health in Hemophilia: A Review of Variables, Methods, and Biomarkers.

Joint health is a key contributor to quality of life in patients with hemophilia. However, variables that impact long-term joint outcomes have not been comprehensively defined. A systematic literature search identified publications relating to joint health in patients with hemophilia.

Resolution of warfarin-induced alopecia with conversion to apixaban.

Warfarin is frequently prescribed as a long-term anticoagulant in patients with end-stage kidney disease as direct oral anticoagulants undergo renal excretion. Anticoagulation is a rare cause of alopecia in adults and is thought to be due to the promotion of the 'resting phase' of hair follicles. In this case report, a prevalent haemodialysis female patient required long-term anticoagulation following a complex pulmonary embolus and dialysis access complications.

Real-world experience with caplacizumab in the management of acute TTP.

The cornerstone of life-saving therapy in immune-mediated thrombotic thrombocytopenic purpura (iTTP) has been plasma exchange (PEX) combined with immunomodulatory strategies. Caplacizumab, a novel anti-von Willebrand factor nanobody trialed in 2 multicenter randomized controlled trials (RCTs) leading to European Union and US Food and Drug Administration approval, has been available in the United Kingdom (UK) through a patient access scheme. Data were collected retrospectively from 2018 to 2020 for 85 patients (4 children) receiving caplacizumab from 22 UK hospitals.

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.

Objective: To develop, test, and iterate a comprehensive neuromuscular targeted gene panel in a national referral center.

Methods: We designed two iterations of a comprehensive targeted gene panel for neuromuscular disorders. Version 1 included 336 genes, which was increased to 464 genes in Version 2.

Anxiety and depression in a sample of UK college students: a study of prevalence, comorbidity, and quality of life.

This study sought to estimate the prevalence of depression and anxiety in UK college students and examine associations between mental health symptoms and quality of life (QoL). Associations between psychiatric comorbidity and degree of QoL impairment were also investigated. Participants ( = 286) were recruited from a UK university (76.

A three-gene DNA methylation biomarker accurately classifies early stage prostate cancer.

Background: We identify and validate accurate diagnostic biomarkers for prostate cancer through a systematic evaluation of DNA methylation alterations.

Materials And Methods: We assembled three early prostate cancer cohorts (total patients = 699) from which we collected and processed over 1300 prostatectomy tissue samples for DNA extraction. Using real-time methylation-specific PCR, we measured normalized methylation levels at 15 frequently methylated loci.

Reliable identification of prostate cancer using mass spectrometry metabolomic imaging in needle core biopsies.

Metabolomic profiling can aid in understanding crucial biological processes in cancer development and progression and can also yield diagnostic biomarkers. Desorption electrospray ionization coupled to mass spectrometry imaging (DESI-MSI) has been proposed as a potential adjunct to diagnostic surgical pathology, particularly for prostate cancer. However, due to low resolution sampling, small numbers of mass spectra, and little validation, published studies have yet to test whether this method is sufficiently robust to merit clinical translation.

Recessive MYH7-related myopathy in two families.

Myopathies due to recessive MYH7 mutations are exceedingly rare, reported in only two families to date. We describe three patients from two families (from Australia and the UK) with a myopathy caused by recessive mutations in MYH7. The Australian family was homozygous for a c.

Characterization and treatment of congenital thrombotic thrombocytopenic purpura.

Congenital thrombotic thrombocytopenic purpura (cTTP) is an ultra-rare thrombomicroangiopathy caused by an inherited deficiency of a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13). There are limited data on genotype-phenotype correlation; there is no consensus on treatment. We reviewed the largest cohort of cTTP cases, diagnosed in the United Kingdom, over the past 15 years.

MicroRNA-206 suppresses TGF-β signalling to limit tumor growth and metastasis in lung adenocarcinoma.

MicroRNA-206 (miR-206) has demonstrated tumor suppressive effects in a variety of cancers. Numerous studies have identified aberrantly expressed targets of miR-206 that contribute to tumor progression and metastasis, however, the broader gene-networks and pathways regulated by miR-206 remain poorly defined. Here, we have ectopically expressed miR-206 in lung adenocarcinoma cell lines and tumors to identify differentially expressed genes, and study the effects on tumor growth and metastasis.