Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Purpose: The TAOK proteins are a group of serine/threonine-protein kinases involved in signalling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental disorder (NDD) characterized by distinctive facial features, hypotonia and feeding difficulties. TAOK2 variants have been reported to be associated with autism and early-onset obesity.

EAES rapid guideline: surgical management of complicated diverticulitis - with ESCP participation.

Background: The surgical management of complicated diverticulitis varies across Europe. EAES members prioritized this topic to be addressed by a clinical practice guideline through an online questionnaire.

Objective: To develop evidence-informed clinical practice recommendations for key stakeholders involved in the treatment of complicated diverticulitis; to improve operative and perioperative outcomes, patient experience and quality of life through a systematic evidence-to-decision approach by a diverse, multidisciplinary panel.

Surgical management of complicated diverticulitis: systematic review and individual patient data network meta-analysis : An EAES/ESCP collaborative project.

Background: We performed a systematic review and network meta-analysis (NMA) of individualized patient data (IPD) to inform the development of evidence-informed clinical practice recommendations.

Methods: We searched MEDLINE, Embase, and Cochrane Central in October 2023 to identify RCTs comparing Hartmann's resection (HR), primary resection and anastomosis (PRA), or laparoscopic peritoneal lavage (LPL) among patients with class Ib-IV Hinchey diverticulitis. Outcomes of interest were prioritized by an international, multidisciplinary panel including two patient partners.

Oral and maxillofacial surgery (OMFS) 'controlled' second-degree places in the UK - there are sufficient numbers (with high application ratios) to meet current and future OMFS recruitment needs in the UK.

In 2008 the Postgraduate Medical Education and Training Board (PMETB) Review of Oral and Maxillofacial Surgery (OMFS) recommended that OMFS specialty training should start with second-degree studies. This recommendation has not yet happened. Currently, no OMFS controlled places at medical/dental schools are directly linked to OMFS Specialty Training (ST) posts.

Comparison of preference-based health-related quality of life measures for chronic neck pain: a pooled analysis of data from three RCTs.

Objectives: This study aimed to identify a preference-based health-related quality of life (HRQOL) measure that best reflects disease-specific features in patients with neck pain by comparing the characteristics of the instruments.

Design: Pooled data from three multicentre randomised controlled clinical trials (RCTs) on neck pain were included for analysis in this study.

Setting: All three RCTs were conducted between 2017 and 2020 in Korea, and patients were recruited from four hospitals and one university teaching hospital.

Histological assessment of extensive or unresectable central giant cell granulomas treated with denosumab - A case series.

Objective: The management of large central giant cell granuloma (CGCG) can pose a significant surgical challenge. In such circumstances, the use of denosumab has been proposed with the literature reporting varying degrees of success. Histopathological assessment of CGCG post-denosumab treatment remains unknown.

Relationship Between Severity of Ischemia and Coronary Artery Disease for Different Stress Test Modalities in the ISCHEMIA Trial.

Background: The relationship between the extent and severity of stress-induced ischemia and the extent and severity of anatomic coronary artery disease (CAD) in patients with obstructive CAD is multifactorial and includes the intensity of stress achieved, type of testing used, presence and extent of prior infarction, collateral blood flow, plaque characteristics, microvascular disease, coronary vasomotor tone, and genetic factors. Among chronic coronary disease participants with site-determined moderate or severe ischemia, we investigated associations between ischemia severity on stress testing and the extent of CAD on coronary computed tomography angiography.

Methods: Clinically indicated stress testing included nuclear imaging, echocardiography, cardiac magnetic resonance imaging, or nonimaging exercise tolerance test.

CHIME Syndrome in a Child With Homozygous PIGL p.Leu167Pro Variant.

CHIME syndrome is a variable condition characterized by ichthyosiform dermatosis, accompanied by intellectual disability, ocular colobomas, ear anomalies, and heart defects. It is an autosomal recessive condition caused by biallelic pathogenic variants in the PIGL gene. Until now, all reports of individuals affected with CHIME syndrome showed the PIGL c.

Neuroepithelial cyst causing homonymous hemianopia treated through surgical marsupialization under visual-evoked potentials: A case report.

Background: Neuroepithelial cysts (NECs) are rare entities, occasionally causing neurological symptoms that can be overlooked.

Case Description: A case of an occipital neuroepithelial cyst is discussed. The initial presentation consisted of mild homonymous hemianopia and gait impairment.

Outcomes of Cardio-Cerebral Infarction Patients: A Single-Centre Retrospective Study.

Background Cardio-cerebral infarction (CCI) belongs to an area of growing interest within cerebrovascular medicine as it refers to the concurrence of acute ischaemic stroke (AIS) and acute myocardial infarction (AMI) usually within 72 hours. A scenario where both the heart and brain sustain a catastrophic ischaemic insult can be devastating. We describe the incidence, treatment, and outcomes of CCI patients from a North London Hyper-Acute Stroke Unit (HASU) over two years and propose a potential treatment algorithm for the treatment of CCI.

A pan-European survey of robotic training for gastrointestinal surgery: European Robotic Surgery Consensus (ERSC) initiative.

Background: There has been a recent rapid growth in the adoption of robotic systems across Europe. This study aimed to capture the current state of robotic training in gastrointestinal (GI) surgery and to identify potential challenges and barriers to training within Europe.

Methods: A pan-European survey was designed to account for the opinion of the following GI surgery groups: (i) experts/independent practitioners; (ii) trainees with robotic access; (iii) trainees without robotic access; (iv) robotic industry representatives.

A Case of Post-COVID Mucormycosis in a Diabetic Patient in Pakistan.

Mucormycosis is a rare but potentially fatal angioinvasive fungal infection, caused by filamentous molds of the order Mucorales, which primarily affects immunocompromised individuals and is characterized by high mortality rates. Diabetes mellitus (DM) is the most common risk factor for mucormycosis. During the COVID-19 pandemic, the number of cases significantly increased.

The impact of closed-loop automated insulin delivery systems on hypoglycaemia awareness in people living with type 1 diabetes: A systematic review and meta-analysis.

Objectives: Impaired awareness of hyperglycaemia (IAH) affects approximately 20-40% of people living with type 1 diabetes (T1D), predisposing them to severe hypoglycaemia. This systematic review evaluated the efficacy of closed-loop automated insulin delivery systems (CL-AID) in restoring IAH compared with standard diabetes care, including other diabetes technologies.

Methods: Six electronic databases were searched for published and unpublished observational and randomised-control studies (RCTs) from inception to 29th of May 2024.

Longitudinal Goal Attainment With Repeat Injections of AbobotulinumtoxinA in Adults With Lower Limb Spasticity: Results From a Prospective Observational Study.

Objective: To assess longitudinal goal attainment with repeat abobotulinumtoxinA (AboBoNT-A) injections for lower limb spasticity (LLS) over 16 months.

Design: Prospective, longitudinal, international, multicenter, observational study (NCT04050527).

Setting: Specialist neurorehabilitation centers.

Long-Term outcomes after stress echocardiography in real world practice: five-year follow-up of the UK Evarest study.

Aims: Stress echocardiography is widely used to assess patients with chest pain. The clinical value of a positive or negative test result to inform on likely longer-term outcomes when applied in real world practice across a healthcare system has not been previously reported.

Methods And Results: 5503 patients recruited across 32 UK NHS hospitals between 2018 and 2022, participating in the EVAREST/BSE-NSTEP prospective cohort study, with data on medical outcomes up to 2023 available from NHS England were included in analysis.

"I'm quite proud of how we've handled it": health professionals' experiences of returning additional findings from the 100,000 genomes project.

Participants in the 100,000 Genomes Project (100kGP) could consent to receive additional finding (AF) results, individual variants relating to genes associated with susceptibility to cancer and familial hypercholesterolemia (FH). In the study reported here, qualitative interviews were used to explore the experiences of National Health Service (NHS) professionals from across England who were tasked with returning over 80,000 "no AF" results and 700 positive AF results to 100kGP participants. Interviews were conducted with 45 professionals from a range of backgrounds, including Genetic Counsellors, Clinical Geneticists, FH Clinical Nurse Specialists and Clinical Scientists.

Evaluating the Effectiveness of an Online Targeted Education Programme on Vascular Surgery Aimed at Early Postgraduate Doctors.

Introduction Mind The Bleep (MTB) is a junior doctor-led online education organisation that produces free open-access medical education (FOAMed) resources. This paper describes MTB vascular surgery online education programme. The target audience was early postgraduate doctors completing a rotation in vascular surgery.