Reconceiving Reproduction: Removing "Rearing" From the Definition-and What This Means for ART.

The predominant position in the reproductive rights literature argues that access to assisted reproductive technologies (ART) forms part of an individual's right to reproduce. On this reasoning, refusal of treatment by clinicians (via provision) violates a hopeful parent's reproductive right and discriminates against the infertile. I reject these views and suggest they wrongly contort what reproductive freedom entitles individuals to do and demand of others.

Design of a Real-World Observational Study in Previously Untreated and Minimally Treated Hemophilia A Patients: Protect-NOW.

 The efficacy, safety, and immunogenicity of each of Octapharma's factor VIII (FVIII) products, Nuwiq, octanate, and wilate, have been investigated in previously untreated patients (PUPs) with severe hemophilia A in prospective clinical trials. The aim of the Protect-NOW study is to evaluate the effectiveness, safety, and utilization patterns of Nuwiq, octanate, and wilate in PUPs and minimally treated patients (MTPs; <5 exposure days [EDs] to FVIII concentrates or other blood products containing FVIII) with severe hemophilia A in a real-world setting. Real-world data provide valuable information that complement data obtained from interventional clinical trials.

Gillick competence: an inadequate guide to the ethics of involving adolescents in decision-making.

Developmentally, adolescence sits in transition between childhood and adulthood. Involving adolescents in their medical decision-making prompts important and complex ethical questions. Originating in the UK, the concept of Gillick competence is a dominant framework for navigating adolescent medical decision-making from legal, ethical and clinical perspectives and is commonly treated as comprehensive.

towards a pluralist account of non-sexual reproduction.

Fertility clinicians participate in non-sexual reproductive projects by providing assisted reproductive technology (ART) to those hoping to reproduce, in support of their reproductive goals. In most countries where ART is available, the state regulates ART as a form of medical treatment. The predominant position in the reproductive rights literature frames the clinician's role as medical technician, and the state as a third party with limited rights to interfere.

Emicizumab prophylaxis in haemophilia A with inhibitors: Three years follow-up from the UK Haemophilia Centre Doctors' Organisation (UKHCDO).

Introduction: The UK National Haemophilia Database (NHD) collects data from all UK persons with haemophilia A with inhibitors (PwHA-I). It is well-placed to investigate patient selection, clinical outcomes, drug safety and other issues not addressed in clinical trials of emicizumab.

Aims: To determine safety, bleeding outcomes and early effects on joint health of emicizumab prophylaxis in a large, unselected cohort using national registry and patient reported Haemtrack (HT) data between 01 January 2018 and 30 September 2021.

Reproduction misconceived: why there is no right to reproduce and the implications for ART access.

Reproduction is broadly recognised as fundamental to human flourishing. The presumptive priority of reproductive freedom forms the predominant position in the literature, translating in the non-sexual reproductive realm as an almost inviolable right to access assisted reproductive technology (ART). This position largely condemns refusal or restriction of ART by clinicians or the state as discriminatory.

Management of children and adults with all stages of nodular lymphocyte predominant Hodgkin lymphoma - All StAGEs: A consensus-based position paper from the Hodgkin lymphoma subgroup of the UK National Cancer Research Institute.

A consensus statement for the management for patients of all ages with all stages of nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) - All StAGEs - is proposed by representatives of the UK National Cancer Research Institute (NCRI) Hodgkin lymphoma study group and the Children's Cancer & Leukaemia Group. Based on current practices and published evidence, a consensus has been reached regarding diagnosis, staging and risk-ik7 stratified management which includes active surveillance, low- and standard-dose immunochemotherapy and radiotherapy.

Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia.

Background: Inherited vitreoretinopathies arise as a consequence of congenital retinal vascularisation abnormalities. They represent a phenotypically and genetically heterogeneous group of disorders that can have a major impact on vision. Several genes encoding proteins and effectors of the canonical Wnt/β-catenin pathway have been associated and precise diagnosis, although difficult, is essential for proper clinical management including syndrome specific management where appropriate.

Arterial malformations leading to bilateral spontaneous renal hemorrhage in a dog.

Objective: To describe the clinical presentation, diagnostic imaging, management, and follow-up of a dog that presented with sequential, bilateral, spontaneous, subcapsular and perirenal hemorrhage (Wunderlich syndrome) due to bilateral renal arterial malformations.

Case Summary: A 9-year-old intact male Field Spaniel presented for acute onset abdominal pain following a possible syncopal episode. Abdominal ultrasonography, contrast-enhanced ultrasound, and computed tomography (CT) revealed right-sided perirenal hemorrhage that extended into the peritoneum.

Retrospective evaluation of systemic hypertension in dogs with nonassociative (primary) immune-mediated hemolytic anemia (December 2016 to April 2019): 26 cases.

Objective: To report the prevalence of arterial hypertension in a population of dogs with nonassociative immune-mediated hemolytic anemia (IMHA) on presentation and during hospitalization. To determine the relationships of systolic blood pressure (SBP) with mortality and a prognostic indicator, the canine hemolytic anemia objective score.

Design: Retrospective observational study (December 2016 to April 2019).

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

Background: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.

Retrospective evaluation of refeeding syndrome in cats: 11 cases (2013-2019).

Objectives: The aim of this study was to describe the clinicopathological findings, management and outcome of cats with refeeding syndrome (RS) following prolonged starvation.

Methods: Records from four referral hospitals were searched between May 2013 and November 2019 and retrospectively evaluated. Inclusion criteria were the presence of a risk factor for RS, such as severe weight loss or emaciation following a period of presumed starvation, hypophosphataemia or a delta phosphorous exceeding 30% reduction following refeeding, being treated on the basis of a clinical diagnosis of RS and one or more derangement of hypokalaemia, hypoglycaemia or hyperglycaemia.

A single centre retrospective study of low dose prophylaxis with extended half-life factor IX for severe haemophilia B.

Introduction: Extended half-life factor IX concentrates (EHL-FIX) can be administered weekly to prevent bleeding for persons with severe haemophilia B. We report the experience of a large UK haemophilia comprehensive care centre using low dose EHL-FIX for persons with severe haemophilia B.

Aim: The low doses used in real world are approximately half of the doses used in clinical trials.

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

Purpose: A key property to consider in all genetic tests is clinical utility, the ability of the test to influence patient management and health outcomes. Here we assess the current clinical utility of genetic testing in diverse pediatric inherited eye disorders (IEDs).

Methods: Two hundred one unrelated children (0-5 years old) with IEDs were ascertained through the database of the North West Genomic Laboratory Hub, Manchester, UK.

Clinical and genetic variability in children with partial albinism.

Individuals who have ocular features of albinism and skin pigmentation in keeping with their familial background present a considerable diagnostic challenge. Timely diagnosis through genomic testing can help avert diagnostic odysseys and facilitates accurate genetic counselling and tailored specialist management. Here, we report the clinical and gene panel testing findings in 12 children with presumed ocular albinism.

The psychosocial and service delivery impact of genomic testing for inherited retinal dystrophies.

Next-generation sequencing (NGS) provides diagnostic information for many rare conditions. The evolution of NGS for panel, exome, and genome testing is set to be the platform for transforming genomic diagnosis in the National Health Service (NHS). Inherited retinal dystrophies (IRDs) are a highly genetically heterogeneous disease group causing progressive visual impairment.

Major bleeding disorders: diagnosis, classification, management and recent developments in haemophilia.

In this review, we outline the standard of care for children in the UK with the most common major bleeding disorder, haemophilia, and how exciting new developments in therapy have the potential for further improvements in quality of life and clinical outcome. The combination of comprehensive specialist medical care, safer factor concentrates, earlier introduction of prophylaxis and patient-specific education has allowed the current generation of patients with haemophilia to grow into adulthood with excellent joint function, pursuing full-time employment with a good quality of life. We are entering an exciting new phase in paediatric haemophilia as potentially life-changing products appear on the scene taking a step towards achieving better, easier and personalised prophylaxis.

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing.

Background: Identification of CNVs through chromosomal microarray (CMA) testing is the first-line investigation in individuals with learning difficulties/congenital abnormalities. Although recognised that CMA testing may identify CNVs encompassing a cancer predisposition gene (CPG), limited information is available on the frequency and nature of such results.

Methods: We investigated CNV gains and losses affecting 39 CPGs in 3366 pilot index case individuals undergoing CMA testing, and then studied an extended cohort (n=10 454) for CNV losses at 105 CPGs and CNV gains at 9 proto-oncogenes implicated in inherited cancer susceptibility.

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.

Purpose: To assess the clinical usefulness of genetic testing in a pediatric population with inherited retinal disease (IRD).

Design: Single-center retrospective case series.

Participants: Eighty-five unrelated children with a diagnosis of isolated or syndromic IRD who were referred for clinical genetic testing between January 2014 and July 2016.