A population-based cohort to investigate the impact of COVID-19 on socioeconomic inequalities in mental health care in Italy (CoMeH): study protocol.

Purpose: The Covid and Mental Health (CoMeH) cohort was established to assess the impact of the COVID-19 pandemic on the use of mental health care services in Italy in the short and long term, with a particular focus on socioeconomic and/or citizenship inequalities.

Methods: The CoMeH cohort includes all residents for at least two years in one of three vast catchment areas (N = 5,167,043), aged ≥ 10 years and assisted by a National Health Service (NHS) general practitioner (GP) of the area of residence. Primary outcomes of interest are the following indicators of mental health care services use: first access to any mental health care service (MHCS), total number of accesses to MHCS, the consumption of psychiatric drugs, the number of psychiatric or psychological outpatient visits, the number of residential or day care days spent in psychiatric facilities, the number of emergency department (ED) admissions, and inpatient admissions to hospitals.

Burosumab Treatment in a Girl With Cutaneous Skeletal Hypophosphatemia Syndrome: 2-Year Follow-Up.

Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a mosaic RASopathy caused by postzygotic, activating pathogenic variants in HRAS, NRAS, or KRAS. It is characterized by congenital epidermal, melanocytic, or sebaceous nevi, elevated FGF23 levels that cause renal phosphate wasting and rickets, and focal bone lesions. We report a 13-year-old girl with CSHS from Argentina.

The impact of the COVID-19 pandemic on access to mental health services and socioeconomic inequalities in Italy.

Objective: Comprehensive evidence on the impact of the Coronavirus Disease 2019 (COVID-19) pandemic on the use of mental health services is scarce. The aim of this study was to evaluate the impact of the COVID-19 pandemic on the access to mental health services in Italy and to assess the socioeconomic and citizenship inequalities for the same outcome.

Methods: A population-based longitudinal open cohort of residents aged ≥ 10 years was established in three large centers covering about 6 million beneficiaries (nearly 10% of the entire population) of the Italian National Health Service (NHS) from 01 January 2018 to 31 December 2021.

Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America.

Purpose: The multisystem clinical manifestations and complications of achondroplasia, the most common form of disproportionate short stature, can cause functional impairment and psychosocial burden. The Lifetime Impact Study for Achondroplasia (LISA), aimed to assess health-related quality of life and medical resource utilization among Latin America patients with achondroplasia.

Methods: Data were collected from individuals aged 3 years and above in Argentina, Brazil, and Colombia between 2018 and 2021.

Evaluation of functionality-mobility in patients with skeletal dysplasias. Application of the STEMS tool ("everyday symptoms and mobility screening tool for skeletal dysplasias").

Individuals with differing forms of skeletal dysplasias (SD) frequently report impaired mobility and symptoms. With the objetive to evaluate mobility and associated symptoms in people with SD at an Argentinian pediatric hospital, using an Argentinian version of the Screening Tool for Everyday Mobility and Symptoms (STEMS), a simple questionnaire that allows clinicians to quickly identify the presence of symptoms associated with mobility in people with SD, while considering different environmental settings and the use of assistive devices, an analytical study of a consecutive sample of patients older than 5 years with SD and their affected relatives was carried out.Diagnosis, comorbidities, socioenvironmental, therapeutic, auxological and mobility variables were recorded.