Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndrome.

Background: Aicardi-Goutières syndrome (AGS) is a rare monogenic type I interferonopathy characterized by dysregulated inflammation and tissue damage that primarily affects the central nervous system. AGS is genetically diverse, with pathogenic variants across multiple genes, including TREX1, which drives excessive type I interferon (IFN) production.

Objective: This study investigated the genetic and molecular mechanisms underlying AGS in a family of two affected children, focusing on the role of variants in protein expression and dysregulation of the interferon pathway.

Biliary anatomic variant and recurrent acute cholecystitis, cholelithiasis in gallbladder remnant in patient with autosomal dominant polycystic kidney disease.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disorder. ADPKD is not only associated with progression of renal disease, but also several hepatobiliary manifestations. This report is of a 49-year-old female with recurrent cholelithiasis and cholecystitis following subtotal cholecystectomy in the context of aberrant biliary anatomy and ADPKD.

Pemafibrate abrogates SLD in a rat experimental dietary model, inducing a shift in fecal bile acids and microbiota composition.

Background And Aims: Drugs resolving steatotic liver disease (SLD) could prevent the evolution of metabolic dysfunction associated SLD (MASLD) to more aggressive forms but must show not only efficacy, but also a high safety profile. Repurposing of drugs in clinical use, such as pemafibrate and mirabegron, could facilitate the finding of an effective and safe drug-treatment for SLD.

Approach And Results: The SLD High Fat High Fructose (HFHFr) rat model develops steatosis without the influence of other metabolic disturbances, such as obesity, inflammation, or type 2 diabetes.

Use of Osteopathic Manipulative Treatment for the Management of Pectus Excavatum: A Single Case Study.

Pectus excavatum (PE) is a congenital defect that presents with an anterior depression of the chest wall, which can impact cardiopulmonary function. A 25-year-old hypermobile male presented with a history of PE and chronic dyspnea on exertion, chronic cough, and intermittent chest wall pain. This study explores osteopathic manipulative treatment (OMT) as a possible alternative to improve symptoms associated with PE.

Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life.

Background: Spinal muscular atrophy (SMA) is a neuromuscular disease, causing progressive muscle weakness due to loss of lower motoneurons. Since 2017, three therapies, two modifying gene transcription and one adding the defective gene, have been approved with comparable efficacy on motor outcome. Data on cognitive outcomes of treated SMA type 1 patients is limited.

A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis.

Autosomal recessive tyrosine kinase 2 (TYK2) deficiency is characterized by susceptibility to mycobacterial and viral infections. Here, we report a 4-year-old female with severe respiratory viral infections, EBV-driven Burkitt-like lymphoma, and infection with the neurotropic Jamestown Canyon virus. A novel, homozygous c.

Fidelity of implementation of Reptes, an alcohol and cannabis selective prevention program for youngsters.

Objective: Implementation fidelity is a key dimension in process evaluation but has been scarcely studied. Reptes is a selective alcohol and cannabis use prevention program performed in vulnerable young people (16-21 years) from different educational and leisure settings. The study aimed to describe the components of this program, its implementation fidelity, and satisfaction among participants and facilitators.

CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients.

Mucolipidosis type II (MLII), an ultra-rare lysosomal storage disorder, manifests as a fatal multi-systemic disease. Mental inhibition and progressive neurodegeneration are commonly reported disease manifestations. Nevertheless, longitudinal data on neurocognitive testing and neuroimaging lack in current literature.

The Spaced Learning Concept in Combination With Halsted and Peyton - A Randomized Controlled Study.

Background: Several motor learning models have been used to teach highly complex procedural skills in medical education. Two approaches are often employed amongst health care professionals: Halsted's "See one - do one - teach one" concept and Peyton's Four-step approach. Peyton's deconstruction of the learning process into 4 sub-steps was reported to be preferable for learning/acquiring/teaching complex clinical skills.

Thyroid function, thyroid antibodies and early postnatal development in neonates of mothers with thyroid disorders.

Background: Thyroid dysfunction during pregnancy is relatively common and can cause obstetric complications and significantly influence fetal development.

Aims: We aimed to evaluate postnatal clinical and laboratory characteristics in the first days of life in infants born to mothers with a thyroid disorder.

Study Design And Subjects: We conducted a retrospective single-center study with neonates born between January 2010 and May 2020.

Real-world serological responses to extended-interval and heterologous COVID-19 mRNA vaccination in frail, older people (UNCoVER): an interim report from a prospective observational cohort study.

Background: The use of COVID-19 vaccines has been prioritised to protect the most vulnerable-notably, older people. Because of fluctuations in vaccine availability, strategies such as delayed second dose and heterologous prime-boost have been used. However, the effectiveness of these strategies in frail, older people are unknown.

Born Under COVID-19 Pandemic Conditions: Infant Regulatory Problems and Maternal Mental Health at 7 Months Postpartum.

Background: The SARS-COVID-19 pandemic and its associated disease control restrictions have in multiple ways affected families with young children, who may be especially vulnerable to mental health problems. Studies report an increase in perinatal parental distress as well as symptoms of anxiety or depression in children during the pandemic. Currently, little is known about the impact of the pandemic on infants and their development.

Experience of early motherhood during the first wave of the COVID-19 pandemic in Northern Germany: a single-centre before and after comparison.

Purpose: To assess maternal mental health during the first weeks after birth including birth experience, postpartum adjustment to early motherhood and the perception of newborn behaviour, and how this may be influenced by the first wave of the COVID-19 pandemic.

Methods: Ninety women who gave birth after the first enforcement of nation-wide disease control restrictions in Germany between 16 March and 10 May 2020 were surveyed and compared with 101 women who had given birth before the pandemic. Information on maternal mental health and maternal perception of early motherhood and neonatal behaviour were assessed at 3-8 weeks postpartum.

Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.

Introduction: Monogenic diseases play an important role in critically ill neonates and infants treated in the intensive care unit. This study aimed to determine the diagnostic yield of whole-exome sequencing (WES) for monogenic diseases and identify phenotypes more likely associated with a genetic etiology.

Methods: From March 2017 to 2020, a comprehensive diagnostic workup including WES in a single academic center was performed in 61 unrelated, critically ill neonates and infants with an unknown underlying disease within the first year of life.

Improving mental health and wellbeing in elderly people isolated at home due to architectural barriers: A community health intervention.

Objectives: To explore the health effects of a community health intervention on older people who are isolated at home due to mobility problems or architectural barriers, to identify associated characteristics and to assess participants' satisfaction.

Design: Quasi-experimental before-after study.

Setting: Five low-income neighbourhoods of Barcelona during 2010-15.

Adults Born Preterm–Long-Term Health Risks of Former Very Low Birth Weight Infants.

Background: Advances in neonatology now enable increasing numbers of very low birth weight neonates (<1500 g) to survive into early adulthood and beyond. What are the implications for their long-term care?

Methods: Selective literature search on the outcome of very low birth weight neo - nates in adulthood ("adults born preterm").

Results: Robust data are available on the pulmonary, metabolic, cardiovascular, renal, neurocognitive, sensory-visual, social-emotional, mental, reproductive, and musculoskeletal long-term risks.

Mitochondrial Content, but Not Function, Is Altered With a Multimodal Resistance Training Protocol and Adequate Protein Intake in Leucine-Supplemented Pre/Frail Women.

Frailty is a clinical condition associated with loss of muscle mass and strength (sarcopenia). Mitochondria are centrally implicated in frailty and sarcopenia. Leucine (Leu) can alter mitochondrial content in myocytes, while resistance training (RT) is the strongest stimulus to counteract sarcopenia and may enhance mitochondrial biogenesis.

Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?

Background: Mucolipidosis type II (MLII) is an ultra-rare lysosomal storage disorder caused by defective lysosomal enzyme trafficking. Clinical hallmarks are craniofacial dysmorphia, cardiorespiratory dysfunction, hepatosplenomegaly, skeletal deformities and neurocognitive retardation. Death usually occurs in the first decade of life and no cure exists.

Lost in Transition: Health Care Experiences of Adults Born Very Preterm-A Qualitative Approach.

Adults Born Very Preterm (ABP) are an underperceived but steadily increasing patient population. It has been shown that they face multiple physical, mental and emotional health problems as they age. Very little is known about their specific health care needs beyond childhood and adolescence.

Barcelona Salut als Barris: Twelve years' experience of tackling social health inequalities through community-based interventions.

Community health can reduce inequalities in health and improve the health of the most disadvantaged populations. In 2007, Barcelona Salut als Barris (Barcelona Health in the Neighbourhoods) was launched, a community health programme to reduce social inequalities in health. In 2018, this programme reached the 25 most disadvantaged neighbourhoods of the city.

Interleukin-6 elevation in healthy neonates.

Objective: This study aimed to identify peripartum and neonatal factors associated with elevated Interleukin-6 levels in the cord blood of neonates without clinical signs of an infection.

Study Design: We conducted a prospective single-center study with healthy term and preterm neonates between March and November 2017. We investigated correlations between 21 peripartum factors and neonatal IL-6 concentrations.

Pivotal Role of AKT2 during Dynamic Phenotypic Change of Breast Cancer Stem Cells.

Therapeutic resistance seen in aggressive forms of breast cancer remains challenging for current treatments. More than half of the patients suffer from a disease relapse, most of them with distant metastases. Cancer maintenance, resistance to therapy, and metastatic disease seem to be sustained by the presence of cancer stem cells (CSC) within a tumor.