Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.

Purpose: Mucopolysaccharidosis type II (MPS II) is a rare X-linked lysosomal storage disorder caused by genetic alterations in the iduronate 2-sulfatase (IDS) gene. A wide range of variants has been reported for different countries and ethnic groups. We collected, analyzed and uniformly summarized all published IDS gene variants reported in literature up to June 2023, here providing the first worldwide review and classification.

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.

Here we conduct a study involving 12 individuals with retinal dystrophy, neurological impairment, and skeletal abnormalities, with special focus on GPATCH11, a lesser-known G-patch domain-containing protein, regulator of RNA metabolism. To elucidate its role, we study fibroblasts from unaffected individuals and patients carrying the recurring c.328+1 G > T mutation, which specifically removes the main part of the G-patch domain while preserving the other domains.

A new instrument for the screening of psoriatic arthritis among psoriatic patients.

Objectives: The purpose of this study was to evaluate the performance of a dermatologist-filled-in 7-item questionnaire (called HERACLES) as a screening tool for psoriatic arthritis (PsA) in patients with psoriasis.

Methods: This study was performed in Italy in seven dermatology centres cooperating with rheumatology centres. Adults with psoriasis were consecutively recruited up to a calculated number of 750.

Mental health crisis situations: the nurse's work in Primary Health Care.

Objective: to analyze the nurses' work in Primary Health Care in the face of mental health crisis situations.

Method: this is a descriptive-exploratory study with a qualitative approach, supported by the theoretical-interpretive frameworks of behavior analysis and historical-dialectical materialism. The data was collected through a semi-structured interview with twelve Primary Health Care nurses and analyzed using the deductive technique proposed by the Theorical Domains Framework, the methodological reference adopted.