Publications by authors named "S S Azzolini"
Article Synopsis
- Kabuki Syndrome (KS) is a genetic disorder that can affect multiple systems in the body, leading to immunological issues like higher infection risk and autoimmune responses.
- A study involving 39 KS patients revealed that many had congenital heart defects and a notable percentage suffered from autoimmune cytopenia, which was linked to thymectomy.
- The findings indicated that a significant number of patients had low immunoglobulin levels, increasing the need for immunoglobulin therapy, while certain immune cell abnormalities were also noted, highlighting the complexity of KS-related immunological challenges.
Context: Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition that is poorly characterized in children.
Objective: To describe causes, presentation, auxological outcome, frequency of adrenal crisis and mortality of a large cohort of children with PAI.
Patients And Methods: Data from 803 patients from 8 centers of Pediatric Endocrinology were retrospectively collected.
This is a retrospective multicenter nationwide Italian study collecting neonatal anthropometric data of Caucasian subjects with Prader-Willi syndrome (PWS) born from 1988 to 2018. The aim of the study is to provide percentile charts for weight and length of singletons with PWS born between 36 and 42 gestational weeks. We collected the birth weight and birth length of 252 male and 244 female singleton live born infants with both parents of Italian origin and PWS genetically confirmed.
View Article and Find Full Text PDFPurpose: Despite complex olfactory bulb embryogenesis, its development abnormalities in tuberous sclerosis complex (TSC) have been poorly investigated.
Methods: Brain MRIs of 110 TSC patients (mean age 11.5 years; age range 0.
Long-term safety and efficacy of Omnitrope®, a somatropin biosimilar, in children requiring growth hormone treatment: Italian interim analysis of the PATRO Children study.
Ital J Pediatr
November 2016
Background: PATRO Children is an ongoing observational, longitudinal, non-interventional, global post-marketing surveillance study, which is investigating the long-term safety and effectiveness of Omnitrope®, a somatropin biosimilar to Genotropin®, in children with growth disturbances. The primary endpoint of PATRO Children is long-term safety and the secondary endpoint is effectiveness, which is assessed by analysing auxological data such as height (HSDS) and height velocity (HVSDS) standard deviation scores. Here, we report the data from the Italian interim analysis of PATRO Children data up to August 2015.
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