Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations.

Purpose: Biallelic HPDL variants have been identified as the cause of a progressive childhood-onset movement disorder, with a broad clinical spectrum from severe neurodevelopmental disorder to juvenile-onset pure hereditary spastic paraplegia type 83. This study aims at delineating the geno- and phenotypic spectra of patients with HPDL-related disease, quantitatively modeling the natural history, and uncovering genotype-phenotype associations.

Methods: A cross-sectional analysis of 90 published and 1 novel case was performed, using a Human-Phenotype-Ontology-based approach.

Safety and Efficacy of Cinacalcet in Children Aged Under 3 Years on Maintenance Dialysis.

Introduction: Secondary hyperparathyroidism (sHPT) is particularly severe in rapidly growing infants in dialysis. Although cinacalcet is effective and licensed in dialysis in children aged >3 years, its efficacy and safety for children aged <3 years is unknown.

Methods: We identified 26 children aged <3 years who were on dialysis and treated with cinacalcet between 2009 and 2021 in 8 European pediatric centers.

Prospective Study of Modifiable Risk Factors of Arterial Hypertension and Left Ventricular Hypertrophy in Pediatric Patients on Hemodialysis.

Introduction: Fluid and salt overload in patients on dialysis result in high blood pressure (BP), left ventricular hypertrophy (LVH) and hemodynamic instability, resulting in cardiovascular morbidity.

Methods: Analysis of 910 pediatric patients on maintenance hemodialysis/hemodiafiltration (HD/HDF), prospectively followed-up with 2758 observations recorded every 6-months in the International Pediatric Hemodialysis Network (IPHN).

Results: Uncontrolled hypertension was present in 55% of observations, with 27% of patients exhibiting persistently elevated predialysis BP.

Hemodiafiltration for children with stage 5 chronic kidney disease: technical aspects and outcomes.

Despite significant medical and technical improvements in the field of dialysis, the morbidity and mortality among patients with chronic kidney disease (CKD) stage 5 on dialysis remains extremely high. Hemodiafiltration (HDF), a dialysis method that combines the two main principles of hemodialysis (HD) and hemofiltration-diffusion and convection-has had a positive impact on survival when delivered with a high convective dose. Improved outcomes with HDF have been attributed to the following factors: HDF removes middle molecular weight uremic toxins including inflammatory cytokines, increases hemodynamic stability, and reduces inflammation and oxidative stress compared to conventional HD.

Long-term clinical course and treatment outcomes of individuals with Nodding Syndrome.

Nodding Syndrome is a poorly understood epilepsy disorder in sub-Saharan Africa. The cause(s) of the disease, risk factors and long-term outcomes are unknown or controversial. The objectives of this study were to describe the long-term clinical course and treatment outcomes of individuals suffering from Nodding Syndrome.

Delineating clinical and developmental outcomes in STXBP1-related disorders.

STXBP1-related disorders are among the most common genetic epilepsies and neurodevelopmental disorders. However, the longitudinal epilepsy course and developmental end points, have not yet been described in detail, which is a critical prerequisite for clinical trial readiness. Here, we assessed 1281 cumulative patient-years of seizure and developmental histories in 162 individuals with STXBP1-related disorders and established a natural history framework.

Perceptions of Health Professionals on the Implementation of Integrative and Complementary Practices at a University Pediatric Hospital in Brazil: A Qualitative Interview Study.

Background: Despite an increase in use of pediatric complementary and integrative health (PCIH), many healthcare professionals still have an inadequate understanding of such practices and consider their use inappropriate, which might thwart implementation processes. In a qualitative interview study we examined the feedback of conventional healthcare professionals about the integrative practices provided to pediatric patients by an integrative team in a pediatric oncological hospital.

Methods: Fifteen semi-structured interviews were carried out with various conventional healthcare professionals in an university pediatric hospital in São Paulo, Brazil.

Kidney urinary biomarkers in patients with branched-chain amino acid and cobalamin metabolism defects.

There is a clinical need for early detection of chronic kidney disease (CKD) in patients with organic acidurias. We measured kidney markers in a longitudinal study over 5 years in 40 patients with methylmalonic aciduria (Mut ), propionic aciduria (PA), cobalamin A (CblA), and cobalamin C (CblC) deficiencies. Neutrophil gelatinase-associated lipocalin (NGAL), calprotectin (CLP), kidney injury molecule-1 (KIM-1), dickkopf-3 (DKK-3), albumin and beta-2-microglobulin (B2MG) in urine, as well as cystatin C (CysC) in serum were quantified.

Inhibition of osteosarcoma by European Mistletoe derived val-miR218.

Aim: In recent years, there has been a growing interest in the therapeutic potential of plant-derived miRNAs, which have been considered new bioactive ingredients in medicinal plants. L., commonly used as an adjuvant cancer therapy in central Europe, contains a large number of miRNAs associated with human diseases such as cancer, cardiovascular diseases, and neurological disorders.

Delineating clinical and developmental outcomes in -related disorders.

-related disorders are among the most common genetic epilepsies and neurodevelopmental disorders. However, the longitudinal epilepsy course and developmental endpoints have not yet been described in detail, which is a critical prerequisite for clinical trial readiness. Here, we assessed 1,281 cumulative patient-years of seizure and developmental histories in 162 individuals with -related disorders and established a natural history framework.

Biomechanical Properties of the Aortic Wall: Changes during Vascular Calcification.

Medial vascular calcification (MAC) is characterized by the deposition of hydroxyapatite (HAP) in the medial layer of the vessel wall, leading to disruption of vessel integrity and vascular stiffness. Because currently no direct therapeutic interventions for MAC are available, studying the MAC pathogenesis is of high research interest. Several methods exist to measure and describe the pathophysiological processes in the vessel wall, such as histological staining and gene expression.

Anserine and Carnosine Induce HSP70-Dependent HS Formation in Endothelial Cells and Murine Kidney.

Anserine and carnosine have nephroprotective actions; hydrogen sulfide (HS) protects from ischemic tissue damage, and the underlying mechanisms are debated. In view of their common interaction with HSP70, we studied possible interactions of both dipeptides with HS. HS formation was measured in human proximal tubular epithelial cells (HK-2); three endothelial cell lines (HUVEC, HUAEC, MCEC); and in renal murine tissue of wild-type (WT), carnosinase-1 knockout -KO) and -KO mice.

Association of cerebrospinal fluid brain-binding autoantibodies with cognitive impairment in post-COVID-19 syndrome.

Background: Neurological symptoms, in particular cognitive deficits, are common in post-COVID-19 syndrome (PCS). There is no approved therapy available, and the underlying disease mechanisms are largely unknown. Besides others, autoimmune processes may play a key role.

Health-Related Self-Care Strategies and Coping Resources During the COVID-19 Pandemic: An Online-Based Cross-Sectional Study.

Complementary medicine (CM) is often used as an opportunity for preventive health measures and supportive self-care practices. This study aimed to explore the use of self-care practices and preventive health strategies and the aspects of the experienced emotions during the COVID-19 pandemic in a population with an affinity for CM. The authors conducted an exploratory cross-sectional study using an anonymous 41-item online survey in the German language.

Six-Month Periodic Fasting in Patients With Type 2 Diabetes and Diabetic Nephropathy: A Proof-of-Concept Study.

Context: Novel fasting interventions have gained scientific and public attention. Periodic fasting has emerged as a dietary modification promoting beneficial effects on metabolic syndrome.

Objective: Assess whether periodic fasting reduces albuminuria and activates nephropathy-driven pathways.

The Effect of Cold-Water Hydrotherapy According to Sebastian Kneipp for Immune Stimulation: A Nonrandomized, Controlled, Explorative, Mixed-Methods Clinical Study.

Home-based hydrotherapy leads to fewer missed kindergarten-days in total. In the application group, more fever days could be registered. Hydrotherapy, according to the hormesis principle by Sebastian Kneipp, aims to reduce infections of the lower respiratory tract.

Angiogenic Role of Mesothelium-Derived Chemokine CXCL1 During Unfavorable Peritoneal Tissue Remodeling in Patients Receiving Peritoneal Dialysis as Renal Replacement Therapy.

Peritoneal dialysis (PD) is a valuable 'home treatment' option, even more so during the ongoing Coronavirus pandemic. However, the long-term use of PD is limited by unfavourable tissue remodelling in the peritoneal membrane, which is associated with inflammation-induced angiogenesis. This appears to be driven primarily through vascular endothelial growth factor (VEGF), while the involvement of other angiogenic signaling pathways is still poorly understood.

Beyond the Standard of Care: An Exploratory Qualitative Study of an Implemented Integrative Therapeutic Care Program in a Brazilian Pediatric Oncology Unit.

This article examines the feedback of health care providers within the implementation of an integrative care project in a clinic for pediatric oncology in São Paulo, Brazil. Since 2017, the project has implemented external anthroposophic therapies in the activities of daily nursing. The objective is to evaluate how the project evolved and what impact it had on the daily operation of the hospital.

Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked Osteogenesis Imperfecta.

Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by low bone density, bone fragility and recurrent fractures. The characterization of its heterogeneous genetic basis has allowed the identification of novel players in bone development. In 2016, we described the first X-linked recessive form of OI caused by hemizygous missense variants resulting in moderate to severe phenotypes.

Promotion of Arterial Stiffness by Childhood Cancer and Its Characteristics in Adult Long-Term Survivors.

Background Vascular alterations induced by antineoplastic treatment might be considered as a possible underlying mechanism of increased cardiovascular sequelae in childhood cancer survivors (CCSs). We aimed to evaluate arterial stiffness among long-term CCSs and to compare the data against a population-based sample. Methods and Results Arterial stiffness was assessed by digital photoplethysmography (stiffness index; m/s) among 1002 participants of the CVSS (Cardiac and Vascular Late Sequelae in Long-Term Survivors of Childhood Cancer) study, diagnosed with neoplasia (1980-1990) before an age of 15 years.

Broadening the horizon for children's health - A qualitative study on the Centro Latino-Americano de Medicina Integrativa Pediátrica.

Objectives: The aim of this article is to analyze the recently established structure of the unit for pediatric integrative medicine (Portuguese: Unidade de Pediatria Integrativa, UPI), its aims and activities at the Children and Adolescent's Institute and the Institute for the Treatment of Childhood Cancer of the Medical Faculty of the University of São Paulo. To give a complete overview, opinions and views of stakeholders were reflected in the analysis.

Design: An ethnographic approach was chosen to provide an overview of the work of UPI through semi-structured qualitative interviews and participant observation.

Hydrogen Sulfide and Carnosine: Modulation of Oxidative Stress and Inflammation in Kidney and Brain Axis.

Emerging evidence indicates that the dysregulation of cellular redox homeostasis and chronic inflammatory processes are implicated in the pathogenesis of kidney and brain disorders. In this light, endogenous dipeptide carnosine (β-alanyl-L-histidine) and hydrogen sulfide (HS) exert cytoprotective actions through the modulation of redox-dependent resilience pathways during oxidative stress and inflammation. Several recent studies have elucidated a functional crosstalk occurring between kidney and the brain.

The effect of Kneipp treatment hydrotherapy on secretory IgA in young children: A controlled, non-randomized clinical pilot study.

Objectives: This pilot study analyses the effect and feasibility of hydrotherapeutic Kneipp arm affusions on secretory immunoglobulin A (sIgA) and classic cold symptoms in children 3-6 years of age.

Study Design: A controlled, non-randomized, clinical pilot study was undertaken.

Intervention: This descriptive hydrotherapeutic intervention treated children aged 3-6 with Kneipp arm affusions over four weeks.