Disease activity in patients with idiopathic inflammatory myopathy according to time since diagnosis and positivity to antisynthetase autoantibodies: data from the Myo-Spain registry.

Objective: To evaluate the main outcomes of disease activity and their association with other measures of activity, damage, and quality of life in patients with idiopathic inflammatory myopathy (IIM) according to time since diagnosis and positivity to antisynthetase autoantibodies (ASAs).

Methods: Cross-sectional multicenter study within the Spanish Myo-Spain registry. Cases were classified as incident (≤ 12 months since diagnosis) and prevalent.

Gait spatiotemporal alterations in schoolchildren with overweight or obesity: a cross-sectional study.

Background: Alterations in spatiotemporal parameters during walking modify and limit movement capacity in children with obesity. This study aimed to describe and compare the alterations in spatiotemporal parameters in schoolchildren according to body weight during all phases of walking.

Methods: We carried out a cross-sectional study of 94 schoolchildren aged 6 to 12 years and divided them into three study groups (normal weight, overweight, and obesity).

Germ cell tumors in children.

Pediatric germ cell tumors represent a rare but biologically diverse group of neoplasms arising from pluripotent primordial germ cells. The 2022 edition of the WHO Classification of Pediatric Tumors introduced the first organ independent classification of germ cell tumors, reflecting advances in molecular biology, histopathology, and clinical practice. This review highlights the key changes, including the refined distinctions between the different subtypes.

Cathelicidin, but not vitamin D, is associated independently with sepsis in pediatric patients with cancer and febrile neutropenia.

Sepsis and septic shock are major complications of febrile neutropenia (FN) in pediatric patients with cancer (PPCs). The aim of the present study was to determine the association of vitamin D (VD) and cathelicidin levels with sepsis and septic shock in PPCs with FN. A prospective cohort of PPCs with FN who had previously received cytotoxic chemotherapy was analyzed.

Baricitinib in pediatric chronic immune thrombocytopenia and associated autoimmune conditions: a case report.

Immune thrombocytopenia (ITP) is a disease characterized by platelet destruction, presenting substantial challenges in clinical practice. The classic first line therapeutic management includes corticosteroids and intravenous immunoglobulins. Although it is less frequent in children than in adults, there is a significant percentage of patients, up to 47% according to the Pediatric and Adult Registry on Chronic ITP, who require second-line or further treatment, due to non-response to the first line treatment or persistence of disease, among other reasons.

Impact of metabolic-associated fatty liver disease on the cholesterol efflux capacity of high-density lipoproteins in adolescents with type 2 diabetes.

Context: Type 2 diabetes (DM2) is an emerging disease in the pediatric population. DM2 is associated with metabolic-associated fatty liver disease (MAFLD). High-density lipoproteins (HDLs) are lipoproteins that are believed to have atheroprotective properties that reduce the risk of cardiovascular disease (CVD).

Invasive infections by group A Streptococcus infections in Brazil: a pediatric case series.

Objective: Group A Streptococcus (GAS) are Gram-positive cocci that colonize the nasopharynx and/or skin and in rare cases may cause severe invasive infections. Although these infections decreased during the COVID-19 pandemic, some countries have observed an increased number of invasive GAS (iGAS) diseases in recent years. The objective of this study was to describe a series of iGAS diseases in a referral hospital for the treatment of pediatric infectious disease in Minas Gerais State, Brazil, between September 2022 and August 2023.

DNA Identification in Breast Milk from Mexican Women with Chagas Disease.

(1) Background: Chagas disease is a public health problem affecting nearly 2 million women of reproductive age in Latin America. From these, 4-8% can transmit the infection to the foetus through the vertical route, whereas horizontal transmission through milk during breastfeeding remains controversial. Therefore, the presence of () DNA in the milk of women seropositive for Chagas disease was analysed to determine whether a relationship with the infection of their children can exist.

The , , and Virulotypes of the Type 3 Secretion System in Multidrug Resistant as a Death Risk Factor in Pediatric Patients.

The poor prognosis of infections associated with multidrug-resistant can be attributed to several conditions of the patient and virulence factors of the pathogen, such as the type III secretion system (T3SS), which presents the ability to inject four effectors into the host cell: ExoS, ExoT, ExoU and ExoY. The aim of this study was to analyze the distribution of genes through multiplex polymerase chain reaction in strains isolated from patients at a third-level pediatric hospital and their relationships with clinical variables, e.g.

Association of Neuroblastoma (NB) SH-SY5Y Cells with Antibodies of Parasitic Origin (Anti- and Anti-).

It is little known that trophozoites and eggs can reduce tumors in vitro and animal models. Although this has been known for many years, the mechanism that induces the antitumor effect in these parasites is still not known. We employed Western blot (WB) and immunofluorescence (IFC) by confocal microscopy to explore the potential protein binding between neuroblastoma (NB) SH-SY5Y cells and anti- and anti- antibodies.

Evaluation of an Antisense Oligonucleotide Targeting CAG Repeats: A Patient-Customized Therapy Study for Huntington's Disease.

Huntington's disease is a genetic disorder characterized by progressive neuronal cell damage in some areas of the brain; symptoms are commonly associated with chorea, rigidity and dystonia. The symptoms in Huntington's Disease are caused by a pathological increase in the number of Cytokine-Adenine-Guanine (CAG) repeats on the first exon of the Huntingtin gene, which causes a protein to have an excessive number of glutamine residues; this alteration leads to a change in the protein's conformation and function. Therefore, the purpose of this work was to design, synthesize and evaluate an antisense oligonucleotide (ASO; 95 nucleotides) HTT 90-5 directed to the Huntingtin CAG repeats in primary leukocyte culture cells from a patient with Huntington's Disease; approximately 500,000 leukocytes per well extracted from venous blood were used, to which 100 pMol of ASO were administered, and the expression of Huntingtin was subsequently evaluated at 72 h by RT-PCR.

The innate defenders: a review of natural killer cell immunotherapies in cancer.

Cancer is a condition that has been with us for centuries; however, the therapies that have been developed are often associated with significant toxicity and various side effects. Recent advances in immunology have revealed the potential of the immune system to fight cancer, leading to the emergence of immunotherapy. This review focuses on Natural Killer (NK) cells, innate immune effectors with a remarkable ability to directly kill cancer cells.

ICHTHYOSIS: clinical and molecular update. Part 2: syndromic ichthyosis. Diagnostic and therapeutic approach of ichthyosis.

Syndromic ichthyoses are a group of disorders whose genetic alterations impact both epidermal and non-epidermal tissues. Therefore, patients present symptoms in other organs. Most are extraordinary and, in some, ichthyosiform desquamation has been poorly described.

ICHTHYOSIS: clinical and molecular update. Part 1: introduction and non-syndromic ichthyoses.

Ichthyoses are a heterogeneous group of diseases sharing symptoms and a common etiopathogenic mechanism. Clinically, these diseases are characterized by the presence of erythema and variable degrees of skin thickening and desquamation. Although the affected area, severity, and molecular substrate are very variable, they are all signs of a disruption of the barrier formed during epidermal differentiation.

ZIC1 is a context-dependent medulloblastoma driver in the rhombic lip.

Transcription factors are frequent cancer driver genes, exhibiting noted specificity based on the precise cell of origin. We demonstrate that ZIC1 exhibits loss-of-function (LOF) somatic events in group 4 (G4) medulloblastoma through recurrent point mutations, subchromosomal deletions and mono-allelic epigenetic repression (60% of G4 medulloblastoma). In contrast, highly similar SHH medulloblastoma exhibits distinct and diametrically opposed gain-of-function mutations and copy number gains (20% of SHH medulloblastoma).

[DiGeorge syndrome with 22q11.2 deletion in a patient of Rarámuri ethnicity].

Background: 22q11 deletion syndrome consists of a variable grouping of phenotypic features and immunological defects secondary to the loss of genetic material located in the 22q11.2 band. The 22q11 deletion spectrum encompasses different syndromes related to the same etiology and with overlapping anomalies, including DiGeorge syndrome, velocardiofacial syndrome, among others.

Impact of dementia and mild cognitive impairment on bone health in older people.

Mild cognitive impairment, dementia and osteoporosis are common diseases of ageing and, with the increasingly ageing global population, are increasing in prevalence. These conditions are closely associated, with shared risk factors, common underlying biological mechanisms and potential direct causal pathways. In this review, the epidemiological and mechanistic links between mild cognitive impairment, dementia and skeletal health are explored.

Impact of social determinants of health on the outcomes of Latin American children with Multisystem Inflammatory Syndrome (MIS-C).

Importance: There is growing understanding that Social Determinants of Health (SDH) impact on the outcomes of different pediatric conditions. We aimed to determine whether SDH affect the severity of MIS-C.

Design: Retrospective cohort study, 2021-2023.

Asthma Symptoms Mimicking Myofibroblastic Tracheal Tumor in Pediatric Diagnosis.

Tracheal tumors in pediatric patients are rare, accounting for 2% of all airway abnormalities and 0.2% of all pediatric tumors. Diagnosis is often delayed due to the heterogeneity of presenting symptoms, such as stridor and wheezing, which are frequently misattributed to other conditions.

The Peritubercle Lucency Sign as a Considerable Predictive Factor for Contralateral Hip Slippage in Unilateral Slipped Capital Femoral Epiphysis Cases.

 To determine whether the radiographic parameter at the epiphyseal tubercle region (peritubercle lucency sign) on the unaffected side can predict slipped capital femoral epiphysis (SCFE).  We retrospectively reviewed patients who received an initial diagnosis of unilateral SCFE between 1995 and 2020 at a pediatric hospital in a Brazilian state's capital. The patients were monitored for at least 18 months.