Search results for "PEDIATRIA"

A Rare Case of Deletion in 2q24.1: Clinical Features and Response to Gh Hormone Treatment

2016

Background: Chromosomal imbalances are often due to sub microscopic deletions or duplications not evidenced by conventional cytogenetic methods. Objective and hypotheses: CGH array can help in the diagnosis of severe short stature, associated with mental retardation and dysmorphisms. Method: We describe the clinical case of a 13.1-year-old girl, born at 35 weeks, from a triplets pregnancy. She was 127.5 cm (!K5 SDS), 33 kg (! K3 SDS); SPAN: 122 cm; PH2B2, bone age: 11 years; mild psychomotor delay, facial dysmorphism (malformed years with a low-set, microcephaly) and feet malformations (flexion deformities, broad halluces). Born SGA, with a growth velocity ! K3 SDS, a severe short stature s…

Parenting Stress Profile and Children Behaviour in Patients with Congenital Hypothyroidism

2015

Background: Hypothyroidism has been associated with cognitive and motor impairments, the degree to which mild hypothyroidism, or subclinical hypothyroidism impacts mood and cognitive functions and whether these symptoms respond to treatment, remains controversial. Furthermore, hypothyroidism is associated with an increased susceptibility to depression and reductions in health-related quality of life. Objective and hypotheses: Recent longitudinal studies stressed that the follow-up of children with treated congenital hypothyroidism (CHT) should not be limited to the cognitive domain. This study attempted to evaluate the emotional–behavioural profiles in children with CHT and the parenting st…

UTILITÀ DELLO SCREENING ECO-DOPPLER TIROIDEO NEL DIABETE MELLITO TIPO 1

2011

VP7 and VP4 Sequence Analyses of Rotavirus Strains From Italian Children With Viraemia and Acute Diarrhoea

2010

Background: Rotavirus has a high genetic variability. Point mutations, accumulating at a high rate, and genetic reassortment events have been well-documented. Viremia occurs commonly in children with acute rotavirus diarrhoea. However, information on genetic characterization of strains associated with systemic infection is poor. Objective: We evaluated prospectively children hospitalized for acute rotavirus diarrhoea and genotyped strains obtained from blood and stool samples. Nucleotide sequences within the VP4 ad VP7 genes of strains obtained from blood and stool specimens of the same patient were compared. Methods: Study subjects were 11 children admitted with acute rotavirus diarrhoea, …

Biochemical markers in Celiac disease.

2009

Celiac Disease is a worldwide spread condition affecting 1:100-1:200 individuals. It is a permanent food intolerance to ingested gluten in genetically predisposed subjects. In this review we analyze the biochemical markers of the disease going from laboratory findings to histology passing through genetics. Gluten intolerance is a unique model of autoimmune disease in which we can recognize the main environmental factor (gluten) and the more complex genetic background. In additional way, serological markers for monitoring the disease and a safe and effective therapy (gluten free diet) are also available. In deed the environmental factor such as gluten intake is necessary to trigger the disea…

Dottore, mio figlio non impara a leggere”. I Disturbi Specifici dell’Apprendimento (DSA) e il pediatra di famiglia

2015

Si parla di Disturbo Specifico di Apprendimento (DSA) quando sono presenti delle difficoltà isolate e circoscritte nella lettura (Dislessia) e/o nella scrittura (Disortografia) e/o nel calcolo (Discalculia) nonostante la presenza di adeguate capacità cognitive e opportunità scolastiche. Tali difficoltà hanno carattere evolutivo e persistente, presentandosi con diversa espressività clinica nelle varie fasi dello sviluppo. La prevalenza mondiale del disturbo si attesta tra il 5 e il 15% (DSM 5, 2013). L’incidenza è maggiore nei maschi, con un rapporto M/F stimato intorno a 2:1, 3:1 (DSM 5, 2013). In Italia la stima di prevalenza dei DSA fra i bambini in età scolare oscilla fra il 3 e il 5% (C…

The aristaless (Arx) gene: one gene for many "interneuronopathies".

2009

The ARX (Aristaless-related (X-linked) homeobox) gene is not only present in arthropods and their ancestors, but also in vertebrates including humans (ARX orthologs). The gene is composed of 5 coding exons and it is expressed predominantly in foetal and adult brain and skeletal muscle. In this review we report on our experience and review the existing literature on the genotype and phenotype heterogeneity associated with ARX abnormalities in humans ranging from severe neuronal migration defects (e.g., lissencephaly), to mild forms of X-linked mental retardation without apparent brain abnormalities. The ARX-related disorders are reviewed focusing on their clinical features and on the role of…

EPATITE AUTOIMMUNE E COINFEZIONE DA HHV6: DESCRIZIONE DI UN CASO IN ETA’ PEDIATRICA

2011

Copy number variations in the etiology of epilepsy

2013

Epilepsy is one of the most common neurological disorders in humans with a prevalence of 1% and a lifetime incidence of 3%. Idiopathic epilepsies occur in the absence of identifiable causal factors, but recent evidences show the role of genetic factors in the developing of these disorders. In particular, several studies focused their attention on the role of copy number variations (CNVs) in the etiology of epilepsy. In recent years, many CNVs have been identified, like 15q11.2, 15q13.3 and 16p13.11 microdeletions, 22q11.2 microduplication and many others. Possible candidate genes included in these regions were also studied and they seem to be involved in neuronal transmission and ion transp…

COVID-19 disease - Temporal analyses of complete blood count parameters over course of illness, and relationship to patient demographics and manageme…

2020

Background Detailed temporal analyses of complete (full) blood count (CBC) parameters, their evolution and relationship to patient age, gender, co-morbidities and management outcomes in survivors and non-survivors with COVID-19 disease, could identify prognostic clinical biomarkers. Methods From 29 January 2020 until 28 March 2020, we performed a longitudinal cohort study of COVID-19 inpatients at the Italian National Institute for Infectious Diseases, Rome, Italy. 9 CBC parameters were studied as continuous variables [neutrophils, lymphocytes, monocytes, platelets, mean platelet volume, red blood cell count, haemoglobin concentration, mean red blood cell volume and red blood cell distribu…