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Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome.
J Neurodev Disord
October 2024
Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.
Background: Phelan-McDermid syndrome (PMS) is caused by monoallelic loss or inactivation at the SHANK3 gene, located in human chr 22q13.33, and is often associated with Autism Spectrum Disorder (ASD).
Objectives: To assess the clinical and developmental phenotype in a novel sample of PMS patients, including for the first time auxometric trajectories and serotonin blood levels.
Frequent Medical Supervision Increases the Effectiveness of a Longitudinal Multidisciplinary Body Weight Reduction Program: A Real-World Experience in a Population of Children and Adolescents with Obesity.
Nutrients
September 2021
Experimental Laboratory for Auxo-Endocrinological Research, Istituto Auxologico Italiano, IRCCS, 28824 Verbania, Italy.
Regular medical supervision represents a fundamental component of the clinical management of obesity. In fact, when frequently supplied it reduces the risk of failure associated with any body weight reduction program (BWRP), resulting in body weight gain. The aim of the present study was to establish the potential beneficial effects of increasing medical supervision on weight loss and other auxometric and cardiometabolic parameters in a population of children and adolescents with obesity ( = 158; F/M = 94/64; age range 9.
View Article and Find Full Text PDFAnthropometric growth pattern in Ethiopian infants and children: an evaluation based on different international growth references.
Coll Antropol
September 2009
Department of Biology, University of Rome "Tor Vergata", Rome, Italy.
At the population level international growth references have been widely used as useful tools to assess a number of situations, i.e.: to predict local and general emergencies related to food and nutrition; to assess the equity of distribution of economic resources within and between communities; to evaluate the suitability of weaning practices and to screen and following at-risk groups.
View Article and Find Full Text PDFAssessing current outcomes of juvenile idiopathic arthritis: a cross-sectional study in a tertiary center sample.
Arthritis Rheum
November 2008
Istituto di Ricovero e Cura a Carattere Scientifico G. Gaslini, Genoa, Italy.
Objective: To investigate the disease outcomes of a cross-sectional sample of children with longstanding juvenile idiopathic arthritis (JIA) seen between September 2002 and December 2006, and to provide a benchmarking of outcomes obtained with current treatment.
Methods: All consecutive patients were included if they met the following criteria: diagnosis of JIA, disease duration > or = 5 years, and informed consent. Outcome assessments included disease activity, inactive disease, minimal disease activity, pain, physical function, health-related quality of life (HRQOL), auxometric measurements, and articular and extraarticular damage.
Neurofibromatosis type 1 growth charts.
Am J Med Genet
December 1999
Servizio di Genetica Clinica ed Epidemiologica, Dipartimento di Pediatria, Università di Padova, Padova, Italy.
Growth abnormalities such as macrocephaly and short stature have been described and are considered a consistent finding in neurofibromatosis type 1 (NF1), one of the most common autosomal dominant disorders in man. We present here a clinical study on the growth profile of a sample of NF1 patients collected through a population-based registry that covers three contiguous regions of North-East Italy (NEI-NF Registry). Auxometric traits of 528 NF1 patients have been measured with the aim of drawing growth charts for height, weight, and head circumference (OFC).
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