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.
View Article and Find Full Text PDFBackground: 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.
View Article and Find Full Text PDFWe 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.
View Article and Find Full Text PDFBackground: 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.
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.
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.
View Article and Find Full Text PDF: 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.
View Article and Find Full Text PDFFeeding, 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.
View Article and Find Full Text PDFThis 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.
View Article and Find Full Text PDFInt J Lang Commun Disord
July 2023
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.
View Article and Find Full Text PDFAm J Med Genet C Semin Med Genet
December 2022
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.
View Article and Find Full Text PDFFunctional 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.
View Article and Find Full Text PDFBackground & 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.
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.
View Article and Find Full Text PDFPregnancy 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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