Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.

Alazami syndrome is a rare disorder with an autosomal recessive inheritance caused by pathogenic biallelic variants in the gene. Clinically, it is mainly characterized by short stature, intellectual disability, and dysmorphic facial features. However, the phenotype is not yet well-defined because less than 50 cases have been described to date.

Longitudinal survey of humoral and cellular response to SARS-CoV-2 infection in children.

Background: Data regarding humoral and cellular response against SARS-CoV-2 in children are scarce. We analysed seroconversion rate, decrease of anti-RBD IgG antibodies over time and T-cell response in paediatric patients who suffered COVID-19.

Methods: Longitudinal study of paediatric patients COVID-19 diagnosed by positive molecular assay in nasopharyngeal swabs.

Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the Gene in a Patient with Syndromic Cataracts.

Inversions are structural variants that are generally balanced. However, they could lead to gene disruptions or have positional effects leading to diseases. Mutations in the gene cause Nance-Horan syndrome, an X-linked disorder characterised by congenital cataracts and dental anomalies.

[Psychosocial assessment in transgender adolescents].

Objectives: To evaluate the psychosocial status of the patients who attend a paediatric endocrinology clinic due to gender incongruity (GI), and to establish the impact on this after one-year of cross hormonal therapy (CHT).

Material And Methods: An analytical and prospective study conducted on adolescents between 14 and 18 years old with GI, and who attended the Endocrinology clinic during 2018-2019. The sample included 23 transgender cases (16 male and 7 female cases) and 30 cisgender controls.

Early myocardial deformation changes associated to isolated obesity: a study based on 3D-wall motion tracking analysis.

Obesity is considered as a strong risk factor for cardiovascular morbidity and mortality. 3D-wall motion tracking echocardiography (3D-WMT) provides information regarding different parameters of left ventricular (LV) myocardial deformation. Our aim was to assess the presence of early myocardial deformation abnormalities in nonselected obese children free from other cardiovascular risk factors.