Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome.

Unlabelled: Our study aims to define resting energy expenditure (REE) and describe the main nutritional patterns in a single-center cohort of children with Smith-Magenis syndrome (SMS). REE was calculated using indirect calorimetry. Patients' metabolic status was assessed by comparing measured REE (mREE) with predictive REE (pREE).

Ligamentous laxity in children with achondroplasia: Prevalence, joint involvement, and implications for early intervention strategies.

Achondroplasia (ACH), the most common form of skeletal dysplasia, is characterized by severe disproportionate short stature, rhizomelia, exaggerated lumbar lordosis, brachydactyly, macrocephaly with frontal bossing and midface hypoplasia. Ligamentous laxity has been reported as a striking feature of ACH, but its prevalence and characteristics have not been systematically evaluated yet. There is growing evidence that ligamentous laxity can be associated with chronic musculoskeletal problems and may affect motor development leading to abnormal developmental trajectories.

Validation and cross-cultural adaptation of the Italian version of the paediatric eating assessment tool (I-PEDI-EAT-10) in genetic syndromes.

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.

From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.

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.

Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review.

: 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.

How pain affect real life of children and adults with achondroplasia: A systematic review.

The clinical features of achondroplasia can cause acute self-limited pain that can evolve into chronic pain. Pain causes a low quality of life, in terms of physical, emotional, social, and school functioning in both adult and children with achondroplasia. We conducted a systematic review according to the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) statement to describe prevalence, assessment tools, causes and management strategies of pain in this rare disease.

The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome.

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.

Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome.

Unlabelled: To date, the feeding and oral-motor abilities of patients with CHARGE syndrome (CS) have not been longitudinally assessed. This study aims to investigate the level of these abilities at different ages and evaluate how they evolve during growth. We retrospectively analysed oral-motor features of 16 patients with molecularly confirmed CS (age range 4-21 years old; mean 11 years; SD 6 years; median 10 years).

What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.

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.

Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.

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.

Prevalence of gastrointestinal disorders in individuals with RASopathies: May RAS/MAP/ERK pathway dysfunctions be a model of neuropathic pain and visceral hypersensitivity?

RASopathies are a group of neurodevelopmental syndromes caused by germline variants in genes of the Ras/MAP/ERK pathway. Growth failure, neurological involvement, and pain represent the main features of these conditions. ERK signaling cascade plays a crucial role in nociception and visceral pain and it is likely implicated in the genesis of neuropathic pain and maintenance of altered pain states.

Drooling outcome measures in paediatric disability: a systematic review.

Drooling, or sialorrhea, is a common condition in patients with cerebral palsy, rare diseases, and neurodevelopmental disorders. The goal of this review was to identify the different properties of sialorrhea outcome measures in children. Four databases were analysed in search of sialorrhea measurement tools, and the review was performed according to the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) statement.

Metabolic profiling of Costello syndrome: Insights from a single-center cohort.

Costello syndrome (CS) is a rare disorder caused by activating dominantly acting germline variants in the HRAS gene. CS is defined by a clinical phenotype characterized by a distinctive gestalt, multiple congenital anomalies, and increased risk to develop tumors. Hypoglycemia and hypercholesterolemia have been reported to occur in affected individuals, but the underlying molecular events remain to be characterized.

Dietary approach to prevent obesity risk in Spina Bifida patients.

Purpose: The aim of this prospective, analytic study is to evaluate if dietary approach can improve the body mass index (BMI) in a total of N = 152 patients with SB.

Methods: BMI levels were evaluated stratifying patients by gender and age classes. Patients with BMI ≥ 25 have been randomized (1:1) in two groups: the "diet" group that received a dietary program and the "no diet" group that did not receive any program.

Design of anion-selective PET probes based on azacryptands: the effect of pH on binding and fluorescence properties.

Design of PET probes for anions working in an aqueous buffered solution is described. The design has been used to develop selective fluorescent probes for sulfate and pyrophosphate. The relationship between the selectivity of receptors towards anions, their conformation, fluorescence response and the pH of the solution has been studied in detail.

Prevalence and concentration of Cryptosporidium oocysts in beef cattle paddock soils and forage.

Cryptosporidium is a parasitic protozoan of great interest because of its widespread occurrence in surface waters, high degree of infectivity, and difficulty of risk management associated with its presence and control. Information about environmental loading and seasonal prevalence of Cryptosporidium oocysts is important for development of watershed management plans to protect public health. Healthy adult beef cattle are known to shed oocysts into the environment, and Cryptosporidium oocysts are often present all year in streams and groundwater in livestock agriculture areas.

Effect of bovine manure on Cryptosporidium parvum oocyst attachment to soil.

The objective of this work was to assess the effect of dilute bovine manure (1.0% and 0.1%) versus that of no manure on attachment and subsequent detachment of Cryptosporidium parvum oocysts to soil.

Selected cases of periapical changes treated with calcium hydroxide preparations.

Success in endodontic treatment with application of non-hardening calcium hydroxide preparations to periapical pathosis has been described. The clinical procedures consisted in elaboration of root canals and temporary filling with Biopulp preparation. Control clinical and radiological investigations were carried out after 3 and 6 months.

Health of the oral cavity of 18-years old students in vocational schools without dental care.

63 18-year-old students of both sexes of vocational school of gastronomic profile were examined. The state of hard tissues of teeth was assessed on the basis of the DMF number, that of periodontium according to the CPI index and the hygiene of the oral cavity - using the simplified OHI index of Greene and Vermillion. The thickness of the dental plaque was estimated on the basis of its colour, using Red-Coty tablets produced by Butler.

Comparison of immunofluorescence assay and immunomagnetic electrochemiluminescence in detection of Cryptosporidium parvum oocysts in karst water samples.

Immunofluorescence assay (IFA) and immunomagnetic electrochemiluminescence (IM-ECL) were used for comparison of the percent recovery of Cryptosporidium parvum in environmental water samples obtained from a spring draining a karst basin. The monoclonal antibodies to C. parvum, isotype IgG3 were used for optimization of the IM-ECL protocol.