Gonadotropin therapy for mini-puberty induction in male infants with hypogonadotropic hypogonadism: a systematic review.

Context: Congenital hypogonadotropic hypogonadism (CHH) is defined as an isolated deficiency of gonadotropin hormones. Mini-puberty, a transient postnatal activation of the hypothalamic-pituitary-gonadal axis in healthy infants, provides a window of opportunity to diagnose and treat CHH. Currently, in male infants with CHH, testosterone is used to increase phallus size.

The sedoheptulose kinase CARKL controls T-cell cytokine outputs and migration by promoting metabolic reprogramming.

Background: Immunometabolism is a crucial determinant of immune cell function, influencing cellular activation and differentiation through metabolic pathways. The intricate interplay between metabolism and immune responses is highlighted by the distinct metabolic programs utilized by immune cells to support their functions. Of particular interest is the pentose phosphate pathway (PPP), a key metabolic pathway branching out of glycolysis that plays a pivotal role in generating NADPH and pentose sugars crucial for antioxidant defense and biosynthesis.

Explainable Artificial Intelligence in Paediatric: Challenges for the Future.

Background: Explainable artificial intelligence (XAI) emerged to improve the transparency of machine learning models and increase understanding of how models make actions and decisions. It helps to present complex models in a more digestible form from a human perspective. However, XAI is still in the development stage and must be used carefully in sensitive domains including paediatrics, where misuse might have adverse consequences.

Chronic pain: a modifiable target to reduce perioperative cardiovascular morbidity.

Recent epidemiological studies suggest that chronic pain is a clinically under-recognised cause for cardiovascular morbidity and mortality. Up to 30% of patients undergoing surgery report chronic pain, but the impact of pre-existing pain on postoperative cardiovascular outcomes is not known. Chronic pain and cardiovascular dysfunction share fundamental pathological mechanisms.

Joint British Societies' position statement on cardiology training in the United Kingdom.

Cardiology training in the UK is facing significant challenges due to a range of factors. Recent curriculum changes have further compounded this issue and significantly risk the ability to produce adequately trained consultants capable of managing patients with increasingly complex cardiovascular disease. The introduction of mandatory dual accreditation in general internal medicine (GIM) alongside cardiology, by design, results in significantly reduced training opportunities, including procedural and subspecialty exposure.

The association of demographic, psychological, social and activity factors with foot health in people with plantar heel pain.

Background: Plantar Heel Pain (PHP) can be a debilitating musculoskeletal condition from which only 50% recover within a year due to poor understanding of the mechanisms explaining severity and predicting outcomes specific to PHP.

Objective: To explore associations between biopsychosocial variables and the severity of people with PHP. Secondly, to determine what combination of self-reported factors distinguishes people with PHP from other foot pain (OFP).

Coronary angiography: a review of the state of the art and the evolution of angiography in cardio therapeutics.

Traditionally, coronary angiography was restricted to visual estimation of contrast-filled lumen in coronary obstructive diseases. Over the previous decades, considerable development has been made in quantitatively analyzing coronary angiography, significantly improving its accuracy and reproducibility.  Notably, the integration of artificial intelligence (AI) and machine learning into quantitative coronary angiography (QCA) holds promise for further enhancing diagnostic accuracy and predictive capabilities.

Acute hepatitis of unknown aetiology in children: evidence for and against causal relationships with SARS-CoV-2, HAdv and AAV2.

Background: The cause of acute paediatric hepatitis of unknown aetiology (2022) has not been established despite extensive investigation.

Objective: To summarise the evidence for and against a causal role for human adenovirus (HAdv), adeno-associated virus 2 (AAV-2) and SARS-CoV-2 in outbreaks of paediatric hepatitis in 2022.

Methods: We appraised and summarised relevant evidence for each of the Bradford Hill criteria for causality using quantitative (statistical modelling) and qualitative (narrative coherence) approaches.

A Population-Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank.

Background: A CAG repeat expansion in THAP11 was recently found to be associated with spinocerebellar ataxia in two Chinese families. Expanded repeats ranged from 45 to 100 units, with CAA sequence interruptions in the 5' region and an uninterrupted CAG tract in the 3' tail.

Objective: Here, we assess the population distribution of the THAP11 repeat, and its contribution to neurological diseases.

Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease.

Background: Alexander disease is an autosomal dominant leukodystrophy caused by heterozygous pathogenic variants in the glial fibrillar acidic protein (GFAP) gene. Although increasingly recognised, there is evidence that Alexander disease, particularly later-onset disease, is significantly underdiagnosed and its true prevalence is unknown (the only population-based prevalence was estimated at one in 2.7 million).

PTX3 is expressed in terminal lymphatics and shapes their organization and function.

Introduction: The lymphatic system is a multifaceted regulator of tissue homeostasis and an integral part of immune responses. Previous studies had shown that subsets of lymphatic endothelial cells (LEC) express , an essential component of humoral innate immunity and tissue homeostasis.

Methods: In the present study using whole-mount imaging and image-based morphometric quantifications, -targeted mice and functional analysis, we investigated the involvement of PTX3 in shaping and function of the lymphatic vasculature.

The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder.

Background: The identification of a heterozygous exonic GGC repeat expansion in ZFHX3 underlying spinocerebellar ataxia type 4 (SCA4) has solved a 25-year diagnostic conundrum. We used adaptive long-read sequencing to decipher the pathogenic expansion in the index Utah family and an unrelated family from Iowa of Swedish ancestry. Contemporaneous to our discovery, other groups identified the same repeat expansion in affected individuals from Utah, Sweden, and Germany, highlighting the current pivotal time for detection of novel repeat expansion disorders.

Zebrafish model for functional screening of flow-responsive genes controlling endothelial cell proliferation.

Local haemodynamics control arterial homeostasis and dysfunction by generating wall shear stress (WSS) which regulates endothelial cell (EC) physiology. Here we use a zebrafish model to identify genes that regulate EC proliferation in response to flow. Suppression of blood flow in zebrafish embryos (by targeting cardiac troponin) reduced EC proliferation in the intersegmental vessels (ISVs) compared to controls exposed to flow.

Clinical features, myocardial injury and systolic impairment in acute myocarditis.

Objective: Cardiovascular magnetic resonance (CMR) is increasingly used in the diagnosis of myocarditis, with myocardial injury and systolic dysfunction playing key roles in the prognosis of this clinical setting. The clinical determinants of myocardial injury and systolic impairment in acute myocarditis are poorly defined. The aim of the current study is to assess the association of laboratory markers, late gadolinium enhancement (LGE) and left ventricular ejection fraction (LVEF) in patients with acute myocarditis.

Challenges and Innovations in Postoperative Care for Acute Type A Aortic Dissection: The Role of Structured Surveillance and Virtual Wards.

Acute Type A aortic dissection (ATAAD) represents a life-threatening medical emergency that requires emergent surgical repair. Despite improvement in surgical techniques and perioperative management, ATAAD remains associated with high early mortality and postoperative complications. A structured and individualized postoperative surveillance program is essential, not only for improving survival rates but also for identifying risk factors necessitating reintervention and enhancing the quality of life.