Publications by authors named "Francesco Proli"

Cannabinoid hyperemesis syndrome (CHS) is characterized by a pattern of cyclic vomiting and abdominal pain despite an absence of an organic cause, occurring in regular cannabis users. This syndrome was first described in 2004. Initially considered rare, with the increased use and legalization of cannabis, a growing incidence of diagnoses has been observed.

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Background: Intestinal failure (IF) is a broad term encompassing various conditions that hinder the body's ability to absorb nutrients for growth and maintenance. These conditions can significantly affect child's well-being, leading to physical limitations, psychological distress, and social isolation. We aimed to evaluate the available data on health-related quality of life (HRQoL) in pediatric patients with IF and without neurodevelopmental delay.

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Article Synopsis
  • - Feeding difficulties are a common issue for patients with Crisponi/cold-induced sweating syndrome type 1 (CS/CISS1), observed from birth to adulthood in a study of 14 patients in Rome.
  • - All participants required enteral feeding at birth, with solid food introduction delayed for 43% until after 18 months, and mealtime challenges included fatigue while chewing, food spillage, and drooling.
  • - The findings enhance the understanding of CS/CISS1, aiding in better management and prevention of complications in patients with this ultra-rare disease.
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We aimed to investigate if children with their first UTI and a concomitant positive blood culture have a higher risk of abnormalities. We performed a retrospective study of children younger than 18 years of age with their first UTI. Multivariate logistic regression and receiver operating characteristic (ROC) curves were used to evaluate if positive blood cultures are associated with urinary abnormalities.

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Background: The Pediatric Eating Assessment Tool (PEDI-EAT-10) is a reliable and valid tool for rapid identification of dysphagia in patients aged 18 months to 18 years.

Aims: To translate and adapt the PEDI-EAT-10 into the Italian language and evaluate its validity and reliability.

Methods & Procedures: The translation and cross-cultural adaptation of the tool consisted of five stages: initial translation, synthesis of the translations, back translation, expert committee evaluation and test of the prefinal version.

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Introduction: We performed this study aiming to evaluate changes in epidemiology, clinical presentation and outcomes of children hospitalized for viral lower respiratory tract infections (LRTI).

Methods: We performed a retrospective study of children younger than 18 years of age hospitalized for LRTIs with a positive respiratory viral testing from 2018 to 2022. We compared need of pediatric intensive care unit (PICU), invasive ventilation, and other respiratory support, viral etiologies, clinical presentations, imaging, and laboratory results in the precovid (2018-2019) and covid (2020-2022) period.

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syndrome is an autosomal-dominant neurodevelopmental disorder featuring developmental delay; intellectual disability; behavioral disturbances; movement disorders; visual defects; and subtle facial features caused by de novo loss-of-function variants in the gene. Due to paucity of data, this study intends to describe feeding issues and oral-motor dyspraxia in an unselected cohort of 10 patients with a confirmed molecular diagnosis. Pathogenic variants along with key information regarding oral-motor features were collected.

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: Smith-Magenis syndrome (SMS) is caused by either interstitial deletions in the 17p11.2 region or pathogenic variants in the gene and is marked by a distinct set of physical, developmental, neurological, and behavioral features. Hypercholesterolemia has been described in SMS, and obesity is also commonly found.

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Feeding, eating and deglutition difficulties are key concerns in patients with cardiofaciocutaneous syndrome (CFCS). This study intends to quantify the development of feeding skills from birth to adulthood in patients with CFCS. Twenty-seven patients (eight males; mean age: 16.

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Article Synopsis
  • Acrodermatitis enteropathica is a rare condition marked by dermatitis, hair loss, and diarrhea, often linked to zinc deficiency, which can occur due to poor diet or complications from parenteral nutrition.
  • A 5-year-old child who had been on total parenteral nutrition for a month developed symptoms including skin lesions and extremely low zinc levels, which were found after a challenging diagnosis due to other existing health issues.
  • After starting zinc supplementation, the child's condition improved rapidly, highlighting the importance of trace elements in parenteral nutrition and the need to consider acrodermatitis enteropathica in similar cases.
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  • Bronchiolitis is a significant health issue for children under 24 months, which saw a reduction in cases during the first year of the pandemic due to non-pharmacological interventions.
  • During 2021, there was a notable rebound in cases, prompting a study to compare two post-pandemic bronchiolitis seasons (2021/22 and 2022/23) in Italy regarding severity, outcomes, and microbiology.
  • The study enrolled 900 patients, revealing that children in the second season were younger and had fewer comorbidities, while RSV infections were common, leading to increased need for respiratory support and higher rates of hospital admissions.
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This study aims to characterize the clinical and metabolic features of acute gastroenteritis in children with and without severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). A multicenter case-control study was conducted in 2022 including 200 children. Clinical data and laboratory tests were analyzed.

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  • The Montreal Children's Hospital Feeding Scale (MCH-FS) was translated and adapted into Italian (I-MCH-FS) to help identify feeding difficulties in children.
  • The study involved 150 children with special healthcare needs and 150 healthy participants, using a multi-step process for translation and validation.
  • Results showed high reliability and significant differences in feeding disorders between the two groups, confirming the I-MCH-FS as an effective screening tool.
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Achondroplasia is an autosomal dominant genetic disease representing the most common form of human skeletal dysplasia: almost all individuals with achondroplasia have identifiable mutations in the fibroblast growth factor receptor type 3 () gene. The cardinal features of this condition and its inheritance have been well-established, but the occurrence of feeding and nutritional complications has received little prominence. In infancy, the presence of floppiness and neurological injury due to foramen magnum stenosis may impair the feeding function of a newborn with achondroplasia.

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Noonan, Costello, and cardio-facio-cutaneous syndrome are neurodevelopmental disorders belonging to the RASopathies, a group of syndromes caused by alterations in the RAS/MAPK pathway. They are characterized by similar clinical features, among which feeding difficulties, growth delay, and gastro-intestinal disorders are frequent, causing pain and discomfort in patients. Hereby, we describe the main nutritional and gastrointestinal issues reported in individuals with RASopathies, specifically in Noonan syndrome, Noonan syndrome-related disorders, Costello, and cardio-facio-cutaneous syndromes.

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  • There is significant variation in how clinicians prescribe antibiotic durations for pediatric UTIs, with most children receiving 7-10 days, despite evidence suggesting shorter regimens may be effective.
  • A retrospective study compared outcomes of children hospitalized with UTIs treated with short (<7 days) vs. standard (7-14 days) antibiotic courses, revealing that both groups had successful discharges but short therapy had a notably lower relapse rate.
  • The findings suggest that short antibiotic therapy could be as effective as standard treatment and warrants further research through larger studies.
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Functional gastrointestinal disorders (FGIDs) are very common and life-impacting in children and young adults, covering 50% of pediatric gastroenterologist consultations. As it is known, FGIDs may be due to alterations in the gut-brain axis, dysbiosis and dysregulation of intestinal barrier, causing leaky gut. This may enhance increased antigen and bacterial passage through a damaged mucosa, worsening the impact of different medical conditions such as FGIDs.

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Background & Aims: Long-term parenteral nutrition (PN) is the mainstay of the therapeutic strategy in intestinal failure (IF) due to neonatal short bowel syndrome (SBS). Our aim was to identify prognostic factors for PN weaning and to assess if measuring plasma citrulline concentrations over time could account for the intestinal adaptation in progress.

Methods: This retrospective study included children with neonatal SBS with surgical measurement of the residual bowel length and repeated plasma citrulline assessments during a 4-year follow-up.

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Health-related quality of life (HRQOL) after intestinal transplantation (IT) is important, as many psychological troubles have been reported in these patients on the long term. Our aim was to assess and compare HRQOL of patients after IT to patients after liver transplantation (LT) or on home parenteral nutrition (HPN) for intestinal failure. A cross-sectional study included patients and their parents between 10 and 18 years of age, on HPN for more than 2 years, or who underwent IT or LT, with a graft survival longer than 2 years.

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Pregnancy after bariatric surgery is usually considered safe. Recently, a few studies reported that bariatric surgery represents a risk factor for birth defects. A case series of six patients, born from women who had undergone biliopancreatic diversion, is reported.

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