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.

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.

Sonographic Characterization of Red-Blue Neurofibromas in Patients With Neurofibromatosis Type 1: An Observational Prospective Study.

Objectives: Red-blue neurofibromas (RBNs), found in up to 29% of adult neurofibromatosis type 1 (NF1) patients, present as red-blue macules measuring 1-2 cm in diameter, primarily on the trunk. Despite their prevalence, RBNs often go unnoticed due to their subtle appearance. Ultrasound characterization serves as a diagnostic clue yet lacks comprehensive studies in both adult and pediatric populations.

The Impact of a Congested Match Schedule (Due to the COVID-19 Lockdown) on Creatine Kinase (CK) in Elite Football Players Using GPS Tracking Technology.

The aim was to analyse the consequences of a congested schedule (due to the COVID-19 lockdown) on creatine kinase (CK) in elite football players using GPS tracking technology. A total of 17 elite football players were monitored in training and competition with a global positioning system. Variables including total distance, high-intensity distance, and distance acceleration and deceleration were analysed.

Biologics in congenital ichthyosis: are they effective?

Background: Congenital ichthyoses (CI) comprise a heterogeneous group of genetic diseases requiring lifelong treatment and having a major effect on quality of life. Conventional treatments reduce scaling and skin discomfort; however, they usually have little or no effect on erythema and pruritus. The identification of cytokine alterations in CI raised the possibility of repurposing available biologics.

Two protocols for the detection of oleaginous bacteria using Oil Red O.

The selection of oleaginous bacteria, potentially applicable to biotechnological approaches, is usually carried out by different expensive and time-consuming techniques. In this study, we used Oil Red O (ORO) as an useful dye for staining of neutral lipids (triacylglycerols and wax esters) on thin-layer chromatography plates. ORO could detect minimal quantities of both compounds (detection limit, 0.

Can the Dose of Belimumab be Reduced in Patients with Systemic Lupus Erythematosus?

Objectives: The aims of this study were to investigate the prevalence of dose reduction in patients with SLE treated with belimumab (BEL) in Spain, analyze treatment modalities, and determine impact on control of disease activity.

Methods: Retrospective longitudinal and multicentre study of SLE patients treated with BEL. Data on disease activity, treatments and outcomes were recorded before and after reduction (6-12 months), and they were compared.

Thorough assessment of the effectiveness of belimumab in a large Spanish multicenter cohort of systemic lupus erythematosus patients.

Objectives: To provide an overview on the current use of belimumab (BLM) in SLE patients in clinical practice and to examine its efficacy in terms of standardized outcomes, drug survival, as well as patient and safety profiles.

Methods: A longitudinal retrospective multicenter cohort including SLE patients treated with BLM at 18 Spanish centers. Data was collected upon initiation of BLM, at 6 and 12 months after initiation, and at the last recorded visit.

MLDSR, the transcriptional regulator of the major lipid droplets protein MLDS, is controlled by long-chain fatty acids and contributes to the lipid-accumulating phenotype in oleaginous Rhodococcus strains.

Microorganism lipid droplet small regulator (MLDSR) is a transcriptional regulator of the major lipid droplet (LD)-associated protein MLDS in Rhodococcus jostii RHA1 and Rhodococcus opacus PD630. In this study, we investigated the role of MLDSR on lipid metabolism and triacylglycerol (TAG) accumulation in R. jostii RHA1 at physiological and molecular levels.

Idiopathic calcinosis cutis in an infant: The importance of a wait-and-see approach.

A healthy 2-year-old girl presented with multiple asymptomatic subcutaneous nodules on both legs. Histologically demonstrated calcium deposition within the dermis and subcutaneous tissue consistent with calcinosis cutis. Laboratory abnormalities, underlying genetic conditions, and potential triggering factors were ruled out.

Association Between VDR and CYP24A1 Polymorphisms, Atopic Dermatitis, and Biochemical Lipid and Vitamin D Profiles in Spanish Population: Case-Control Study.

Background: Atopic dermatitis (AD) is the most prevalent inflammatory skin disorder, characterized by impaired epidermal barrier function and an altered immune response, both of which are influenced by vitamin D deficiency. Single-nucleotide polymorphisms (SNPs) in VDR and CYP24A1 have been previously associated with AD.

Objective: We sought to characterize the associations between the VDR and CYP24A1 polymorphisms and the vitamin D and lipid biochemical profile in children diagnosed with AD.

Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the Gene Associated with Autosomal Recessive Erythrokeratoderma.

Hereditary palmoplantar keratodermas (PPKs) are a clinically and genetically heterogeneous group of disorders characterized by excessive epidermal thickening of palms and soles. Several genes have been associated with PPK including , a gene encoding a crucial component of desmosomes that has been associated with dominant and recessive keratoderma. We report a patient with recessive erythrokeratoderma (EK) in which whole exome sequencing (WES) prioritized by human phenotype ontology (HPO) terms revealed the presence of the novel variant c.

Relationship between Repeated Sprint Ability, Countermovement Jump and Thermography in Elite Football Players.

Football is a very demanding sport which requires players to exert maximum effort, producing fatigue and eventually injuries. Thermography can be used to detect fatigue and prevent its consequences through thermal asymmetries in the bilateral body areas; however, its adequacy for elite footballers has not been widely studied. Therefore, the objective of the present investigation was to determine the suitability of thermography to detect fatigue in male football players.

Ichthyosis.

The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can be inherited or acquired, and result in defective keratinocyte differentiation and abnormal epidermal barrier formation. The resultant skin barrier dysfunction leads to increased transepidermal water loss and inflammation.

Neurofibromatosis Type 1: Diagnostic Timelines in Children.

Background And Objectives: The neurofibromatosis 1 (NF1) diagnosis is challenging in young children without a family history of NF1. The aims of this study were to estimate diagnostic delays in children without a family history of NF1 and to examine the effects of using café au lait macules and skin fold freckling as a single diagnostic criterion.

Patients And Methods: Retrospective, descriptive, observational study of all patients diagnosed with NF1 before the age of 18 years who were seen at our hospital.

Differences in body composition and physical fitness parameters among prepubertal and pubertal children engaged in extracurricular sports: the active health study.

Background: This study aimed to analyze the associations of maturity status, chronological age and sex with physical fitness and body composition among active children.

Methods: A total of 1682 children (72% boys; age = 11.22 ± 2.