Lentiviral expression of wild-type LAMA3A restores cell adhesion in airway basal cells from children with epidermolysis bullosa.

The hallmark of epidermolysis bullosa (EB) is fragile attachment of epithelia due to genetic variants in cell adhesion genes. We describe 16 EB patients treated in the ear, nose, and throat department of a tertiary pediatric hospital linked to the United Kingdom's national EB unit between 1992 and 2023. Patients suffered a high degree of morbidity and mortality from laryngotracheal stenosis.

Management of acute sloughing of the esophageal lining in patients with dystrophic epidermolysis bullosa-A series of six pediatric patients.

Background: Dystrophic epidermolysis bullosa (DEB) is a subtype of an inherited skin disorder characterized by skin and mucosal fragility due to collagen VII (COL7A1) gene mutations. Esophageal strictures leading to chronic dysphagia and acute episodes are well recognized complications within this subtype. Sloughing of esophageal mucosa and the treatment of this emergency have heretofore received limited attention in the EB literature.

The impact of using a multistrain probiotic supplement on gastrointestinal function in children and adolescents with severe recessive dystrophic epidermolysis bullosa.

Background: Children and adolescents with severe recessive dystrophic epidermolysis bullosa (RDEB-S) often have severe constipation in addition to gastrointestinal dysbiosis, due to frequent antibiotic use and reduced oral diet. Constipation is treated with long-term use of high daily doses of macrogol gel (Movicol Paediatric PlainTM or LaxidoTM). Constipation is refractory to increases in fibre and fluids, and impacts severely on quality of life.

Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.

Background: Desmosomes are complex cell junction structures that connect intermediate filaments providing strong cell-to-cell adhesion in tissues exposed to mechanical stress.

Objectives: To identify causal variants in individuals with woolly hair and skin fragility of unknown genetic cause.

Methods: This research was conducted using whole-genome sequencing, whole-exome sequencing, clinical phenotyping, haplotype analysis, single-cell RNA sequencing data analysis, immunofluorescence microscopy and transmission electron microscopy.

[Eating behavior disorders in patients hospitalized in a Mental Health Service].

Introduction: Eating disorders (ED) have a high prevalence during adolescence, associated with high morbidity and mortality. In our country, there are no data that characterize adolescent inpatients with ED.

Objective: To describe and analyze hospitalizations of children and adolescents due to ED admitted in a Pediatric Mental Health Service (PMHS).

Bone mineral density, lung function, vitamin D and body composition in children and adolescents with cystic fibrosis: a multicenter study.

Background: cystic fibrosis (CF) is the most common inherited disease in Caucasian population. Nowadays, long survival has led to the emergence of new complications, such as CF bone disease (CFBD), which is characterized by increased fracture risk.

Objectives: evaluate the association of bone mineral density (BMD) with lung function and BMD with 25-hydroxivitamin D (25OHD) plasmatic levels in children/adolescents with CF.

[Evaluation of bone mineral density in children with vertical infection by HIV].

Unlabelled: Changes in bone mineral density (BMD) are common in adults infected with human immunodeficiency virus (HIV). There are few studies evaluating bone involvement in children infected.

Objective: To evaluate BMD in vertically HIV-infected children.

[Tenofovir-associated Fanconi`s syndrome and rickets in a HIV infected girl].

Unlabelled: Tenofovir (TDF) is an inhibitor of reverse transcriptase nucleotide analogue, although it has good tolerability and high anti-retroviral activity, its effect on the kidney has been a concern.

Objective: To describe a girl infected with HIV who presented Fanconi syndrome during antiretroviral therapy with TDF.

Clinical Case: We describe a HIV-1-infected girl, who after 18 months treatment with TDF presented loss of strength and pain of the lower extremities with functional impairment.

[Intima-media thickness in obese adolescents and their relation with metabolic syndrome].

Introduction: Obese adolescents have higher cardiovascular risk (CVR). Intima-media thickness (IMT) detects early arterial vascular compromise.

Objective: To evaluate whether obese adolescents have higher vascular compromise measured by IMT than nonobese adolescents, and if this is greater in those with metabolic syndrome (MS).

Effects of the posterior hypophysis and ovary on pheromonal production in normal females and in the reproductive behavior of male rats treated with D,L-propranolol.

Posterior hypophysis homogenates of female rats stimulated with epinephrine subcutaneously contain a pheromonal factor that increments significantly the incidence of fertile coitus after having been placed in the oronasal groove of rats in proestro (69.2% fertile coitus vs. 36.