Ricerc@Sapienza

Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by life-threatening infections, inflammation, and autoimmunity with an impact on health-related quality of life (HRQoL). Few data are available for children, whereas no study has been conducted in adults. Here, we investigated HRQoL and emotional functioning of 19 children and 28 adults enrolled in Italian registry for CGD. PEDsQL and SDQ were used for children and their caregivers, and adults completed the SF-12 questionnaire. Mean scores were compared with norms and with patients affected by chronic diseases.

Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by life-threatening infections, inflammation, and autoimmunity with an impact on health-related quality of life (HRQoL). Few data are available for children, whereas no study has been conducted in adults. Here, we investigated HRQoL and emotional functioning of 19 children and 28 adults enrolled in Italian registry for CGD. PEDsQL and SDQ were used for children and their caregivers, and adults completed the SF-12 questionnaire. Mean scores were compared with norms and with patients affected by chronic diseases.

Translation and cross-cultural adaptation of the 39-item Parkinson’s Disease Questionnaire (PDQ-39) to the Italian culture was performed by Oxford University Innovation in 2008, but this version has never been validated. Therefore, we performed the process of validation of the Italian version of the PDQ-39 (PDQ-39-IT) following the “Consensus-Based Standards for the Selection of Health Status Measurement Instruments” checklist. The translated PDQ-39-IT was tested with 104 patients diagnosed with Parkinson’s disease (PD) who were recruited between June and October 2017.

Objectives: Anorectal malformations (ARMs) are rare congenital colorectal anomalies, which may have a negative impact on health-related quality of
life (HRQoL) due to long-lasting consequences, like fecal incontinence. The aim of the present study was to test whether a pervasive mode of appraising
and viewing life experiences from a positive stance (ie, positivity) mediates the effect of fecal continence on HRQoL.

Objective: We assessed the health-related quality of life (HRQoL) in CVID adults receiving different schedules of immunoglobulin replacement therapy (IgRT) by intravenous (IVIG), subcutaneous (SCIG), and facilitated (fSCIG) preparations. For these patients, IgRT schedule was chosen after a period focused on identifying the most suitable individual option. Methods: Three hundred twenty-seven participants were enrolled in a prospective, observational, 18-month study. Participants received IgRT for at least 2 years.

BACKGROUND:
Gynecomastia is a common condition that can cause severe emotional and physical distress in both young and older men. Patients in whom symptomatic recalcitrant gynecomastia persists for a long time are potential candidates for surgery.