Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience.

Background: Classic homocystinuria (HCU) is a rare inborn metabolic disease that is generally asymptomatic at birth. If untreated, it can cause a wide range of complications including intellectual disability, lens dislocation, and thromboembolism. This study aimed to describe the natural history and the molecular findings of patients with HCU, and to assess the importance of early diagnosis.

The UK consensus supporting effective introduction of novel treatments for multiple myeloma in the National Health Service.

Introduction: Multiple myeloma (MM) is a relapsing, debilitating blood cancer which remains incurable despite advances in treatments. Patients typically receive multiple lines of treatment, to which they become refractory, thereby limiting treatment options. B-cell maturation antigen (BCMA) bispecific antibodies (BsAbs) represent a novel modality of treatment that has significant efficacy for relapsed or refractory patients.

Use of IV immunoglobulin to treat steroid resistant, immune checkpoint inhibitor-induced pure red cell aplasia: A case report.

Pure red cell aplasia (PRCA) is characterised by normocytic normochromic anaemia, reticulocytopenia and reduced erythroid precursors in bone marrow. PRCA as an immune-related adverse event secondary to immune checkpoint inhibitor (ICI) therapy is rare. Steroids are usually used first line to treat ICI-induced PRCA.

Two successful pregnancies -in patients taking Volanesorsen for familial chylomicronemia syndrome.

Familial chylomicronemia syndrome (FCS) is a rare inherited disorder characterized by severe hypertriglyceridemia, posing a heightened risk of acute pancreatitis. Recently, Volanesorsen, an APOC3 antisense oligonucleotide, gained approval for FCS treatment in the UK. Caution is advised during pregnancy due to limited safety data, although animal studies show no toxicity/teratogenicity.

[Guidelines for clinical trial protocols for interventions involving artificial intelligence: the SPIRIT-AI extensionDiretrizes para protocolos de ensaios clínicos com intervenções que utilizam inteligência artificial: a extensão SPIRIT-AI].

Objective.: To determine if there was an association between intrapartum stillbirths and both traveled distance for delivery and delivery care accessibility, assessing periods before and during the COVID-19 pandemic.

Methods.

[Reporting guidelines for clinical trial reports for interventions involving artificial intelligence: the CONSORT-AI extensionDiretrizes para relatórios de ensaios clínicos com intervenções que utilizam inteligência artificial: a extensão CONSORT-AI].

The CONSORT 2010 statement provides minimum guidelines for reporting randomized trials. Its widespread use has been instrumental in ensuring transparency in the evaluation of new interventions. More recently, there has been a growing recognition that interventions involving artificial intelligence (AI) need to undergo rigorous, prospective evaluation to demonstrate impact on health outcomes.

Pulmonary artery wave intensity analysis in pulmonary hypertension associated with heart failure and reduced left ventricular ejection fraction.

Wave intensity analysis (WIA) uses simultaneous changes in pressure and flow velocity to determine wave energy, type, and timing of traveling waves in the circulation. In this study, we characterized wave propagation in the pulmonary artery in patients with pulmonary hypertension associated with left-sided heart disease (PHLHD) and the effects of dobutamine. During right heart catheterization, pressure and velocity data were acquired using a dual-tipped pressure and Doppler flow sensor wire (Combowire; Phillips Volcano), and processed offline using customized Matlab software (MathWorks).

[Guidelines for clinical trial protocols for interventions involving artificial intelligence: the SPIRIT-AI extensionDiretrizes para protocolos de ensaios clínicos com intervenções que utilizam inteligência artificial: a extensão SPIRIT-AI].

The SPIRIT 2013 statement aims to improve the completeness of clinical trial protocol reporting by providing evidence-based recommendations for the minimum set of items to be addressed. This guidance has been instrumental in promoting transparent evaluation of new interventions. More recently, there has been a growing recognition that interventions involving artificial intelligence (AI) need to undergo rigorous, prospective evaluation to demonstrate their impact on health outcomes.

Long-term clinical and socioeconomic outcomes of children with biliary atresia.

Background: Biliary atresia (BA) is rare liver disease of unknown etiology, and is a major indication for liver transplant (LT). Previous data indicate improved outcomes with early referral for Kasai portoenterostomy (KPE).

Objective: Evaluate the long-term outcomes in BA, with particular focus on those transitioned to adult care with native livers.

First UK patient cohort treated with stereotactic ablative radiotherapy for primary kidney cancer.

Aims: Stereotactic ablative radiotherapy (SABR) for primary renal cell carcinoma (RCC) is a promising non-invasive ablative treatment option. A prospective interventional clinical trial published showed that treatment was feasible and well tolerated. We present the first single-institution UK cohort of patients with primary RCC receiving protocol-based SABR with prospective follow-up.

Quantifying the benefit of nonselective beta-blockers in the prevention of hepatic decompensation: A Bayesian reanalysis of the PREDESCI trial.

Background And Aims: Beta-blockers have been studied for the prevention of variceal bleeding and, more recently, for the prevention of all-cause decompensation. Some uncertainties regarding the benefit of beta-blockers for the prevention of decompensation remain. Bayesian analyses enhance the interpretation of trials.

Breaking the Cycle of Heart Failure With Preserved Ejection Fraction and Atrial Fibrillation.

Heart failure with preserved ejection fraction (HFpEF) and AF are two common cardiovascular conditions that are inextricably linked to each other's development and progression, often in multimorbid patients. Current management is often directed to specific components of each disease without considering their joint impact on diagnosis, treatment and prognosis. The result for patients is suboptimal on all three levels, restricting clinicians from preventing major adverse events, including death, which occurs in 20% of patients at 2 years and in 45% at 4 years.

Delusional infestation in healthcare professionals: Outcomes from a multi-centre case series.

Delusional infestation (DI) describes an unwavering fixed belief of infestation with pathogens, despite a lack of medical evidence supporting this. Effective management of DI with antipsychotics is made challenging by the fixed belief that the condition is an infestation or infection rather than a mental illness. A case series of individuals diagnosed with DI included 11% who were healthcare professionals (HCPs).

Characterization, epidemiology and risk factors of multiple drug allergy syndrome and multiple drug intolerance syndrome: A systematic review.

Background: Multiple drug allergy and multiple drug intolerance syndrome (MDAS/MDIS) labels are an impediment to clinical care and knowledge regarding these conditions is limited. This systematic review investigated the characterization, epidemiology, risk factors, clinical impact and pharmaco-economics of MDAS and MDIS.

Methods: Systematic literature search across 11 databases (01 January 2000-06 November 2020) for MDIS, MDAS and related terminology.

Anti-platelet factor 4 immunoglobulin G levels in vaccine-induced immune thrombocytopenia and thrombosis: Persistent positivity through 7 months.

Background: Anti-platelet factor 4 (PF4) antibodies that activate platelets via FcγRIIA drive the pathophysiology of vaccine-induced immune thrombocytopenia and thrombosis (VITT). Evolution of these antibodies and their ability to activate platelets after initial treatment remains unknown.

Objectives: To assess how clinical and platelet parameters, anti-PF4 antibody levels, and patient serum reactivity changes during follow-up after VITT presentation.

Assessing the Effectiveness of Bisphosphonates for the Prevention of Fragility Fractures: An Updated Systematic Review and Network Meta-Analyses.

Bisphosphonates have been found to be effective in preventing fragility fractures. However, their comparative effectiveness in populations at risk has yet to be defined. In light of recent clinical trials, we aimed to compare four bisphosphonates (alendronate, ibandronate, risedronate, and zoledronate) and to identify which are the most effective for the prevention of fragility fractures.

Anatomical and audiological considerations in branchiootorenal syndrome: A systematic review.

Objective: Establish anatomical considerations, audiological outcomes, and optimal management in patients with branchiootic/branchiootorenal syndrome (BO/BOR).

Methods: Databases reviewed: Medline, Pubmed, Embase, Web of Science, Cochrane Collection, and ClinicalTrials.gov.

Standardizing the histological assessment of late posttransplantation biopsies from pediatric liver allograft recipients.

Excellent short-term survival after pediatric liver transplantation (LT) has shifted attention toward the optimization of long-term outcomes. Despite considerable progress in imaging and other noninvasive modalities, liver biopsies continue to be required to monitor allograft health and to titrate immunosuppression. However, a standardized approach to the detailed assessment of long-term graft histology is currently lacking.

Long-term functional outcomes following paediatric traumatic elbow dislocation, a clinical retrospective cohort study.

Background: Paediatric traumatic elbow dislocation occurs in 6 per 100,000 children per year and if not treated promptly can result in a poor outcome. Despite this, the long-term clinical and functional outcome of these injuries has not been well described using modern patient-reported outcome tools. The aim of our study was present the outcome of these injuries in the long term.

Interactions Between Atrial Fibrillation and Natriuretic Peptide in Predicting Heart Failure Hospitalization or Cardiovascular Death.

Background Natriuretic peptides are routinely quantified to diagnose heart failure (HF). Their concentrations are also elevated in atrial fibrillation (AF). To clarify their value in predicting future cardiovascular events, we measured natriuretic peptides in unselected patients with cardiovascular conditions and related their concentrations to AF and HF status and outcomes.

The negative impact of the COVID-19 pandemic on UK haematology registrars' well-being and training: Results of a UK nationwide survey.

The COVID-19 pandemic has disturbed medical training. Haematology registrars were surveyed using SurveyMonkey. Eighty-nine out of 269 (24.

Incidental finding of lipaemia retinalis on diabetic retinal screening.

Summary: A 37-year-old female of South Asian origin was referred to our diabetes clinic for evaluation of an unusual finding during her retinal screening. Her retinal blood vessels appeared white in contrast to the normal pink-red colour. She had type I hyperlipidaemia, confirmed by genotype, and was recently diagnosed with diabetes, secondary to pancreatic insufficiency, for which she had suboptimal control and multiple hospitalisations with recurrent pancreatitis.