186,545 research outputs found
Ipertirosinemia tipo II e ipoplasia del verme cerebellare»
No full textUn Caso di ipertirosinemia di II tipo associata ad ipoplasia del verme cerebellar
The Role of Inflammation in the Endothelial Dysfunction in a Cohort of Pediatric Patients with Inflammatory Bowel Disease
No full textOBJECTIVES:
Chronic inflammation plays a central role in the etiology of endothelial damage. Endothelial dysfunction (ED) is the inability of the artery to dilate in response to an endothelial stimulus. We assessed the ED by measuring the reactive hyperaemia index (RHI) and the flow-mediated dilation (FMD) in a cohort of pediatric patients affected by inflammatory bowel disease (IBD) and comparing these parameters to a group of healthy controls (HC).
METHODS:
Forty-one patients were consecutive enrolled. ED was evaluated by both the plethysmographic RHI method and the measurement of the FMD of brachial artery after occlusion of the blood flow. Differences between patients and controls were assessed by the Mann-Whitney test. In each patient with IBD, the main inflammation markers were detected and correlated to RHI and FMD by a linear regression test.
RESULTS:
We enrolled 26 (59%) patients with IBD and 18 (41%) HC. When comparing FMD value at diagnosis it was significantly lower in IBD patients than in HC (P = 0.04). This result was confirmed at follow-up, when this difference became even more significant (P = 0.004). A significant indirect correlation was found between FMD and fecal calprotectin (r: 0.17; P = 0.04). No differences were found when comparing RHI.
CONCLUSIONS:
Our results suggest that inflammation could lead to ED assessed by ultrasound FMD. These data were not confirmed by RHI; however, this could be due to the lack of a standardized pediatric cut-off. More studies are necessary to confirm our data
Argininosuccinico-aciduria subacuta con insolita presentazione. Subacute arginino succinic aciduria with unusual presentation.
No full textUsefulness and limits of a new method for biochemical screening of lysosomal storage diseases
No full textHigh seroprevalence of Helicobacter pylori infection in non-institutionalised children with mental retardation
No full textEighty-four children with mental retardation (34 boys, 50 girls; age range 2-18 years, median 6 years) and 84 age- and gender-matched outpatient controls were studied. All children were living at home, had never stayed in an institution, and came from the same urban area. Seropositivity for Helicobacter pylori was found in 42 (50%) of 84 mentally retarded children and 16 (19%) of 84 controls (p < 0.01). Socio-economic factors did not differ between the two groups. The findings indicated that a higher prevalence of H. pylori infection occurs in children with mental retardation, regardless of whether they are institutionalised
Phenotypic variability,neurological outcome and genetics background of 6-pyruvoil-tetrahydropterin synthase deficiency
No full textClin Genet. 2010 Mar;77(3):249-57. Epub 2009 Jan 3.
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency.
Leuzzi V, Carducci CA, Carducci CL, Pozzessere S, Burlina A, Cerone R, Concolino D, Donati MA, Fiori L, Meli C, Ponzone A, Porta F, Strisciuglio P, Antonozzi I, Blau N.
Source
Department of Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy. [email protected]
Abstract
This study aimed to investigate the clinical variability and factors implied in the outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency (PTPSd). Biochemical and clinical phenotype, treatment variables, and 6-pyruvoyl-tetrahydropterin synthase (PTS) genotype, were explored retrospectively in 19 Italian patients (12 males and 7 females, aged 4 months to 33 years). According to the level of biogenic amines in cerebrospinal fluid (CSF) at the diagnosis, the patients were classified as mild (6) (normal level) or severe (13) (abnormal low level) form (MF and SF, respectively). Blood Phe ranged from 151 to 1053 micromol/l in MF (mean +/- SD: 698 +/- 403) and 342-2120 micromol/l in SF (mean +/- SD: 1175 +/- 517) (p = 0.063). Patients with MF showed a normal neurological development (a transient dystonia was detected in one), while all SF patients except one presented with severe neurological impairment and only four had a normal neurological development. The outcome of the SF was influenced by the precocity of the treatment. Serial CSF examinations revealed a decline of 5-hydroxyindolacetic acid in MFs and an incomplete restoration of neurotransmitters in SFs: neither obviously affected the prognosis. PTS gene analysis detected 17 different mutations (seven so far unreported) (only one affected allele was identified in three subjects). A good correlation was found between genotype and clinical and biochemical phenotype. The occurrence of brain neurotransmitter deficiency and its early correction (by the therapy) are the main prognostic factors in PTPSd
Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation
No full textDistribution and age of onset of psychopathological risk in a cohort of children with Down syndrome in developmental age.
No full textBackground: Aim of the study is to intercept specific characteristics and psychiatric comorbidity in Down Syndrome (DS). The study describes the distribution and the age of specific aspects of behavioral phenotype in a sample of subjects with DS.
Methods: Psychopathological risk has been evaluated in a 97 DS patient cohort, aged 1 to 18 years, during regular follow-up neuropsychiatric visit and through administration of Child Behavior Checklist (CBCL); Childhood Autism Rating Scale (CARS-T) was assessed to verify the presence of autistic behaviors.
Results: The results show the presence of specific psychopathological risk factors in 90% of the sample. 7% of sample presents autistic features. The risk of psychopathology is independent of the degree of intellectual disability.
Conclusion: The high frequency of psychopathological risk factors indicates the need for accurate monitoring to intercept specific characteristics, such as in the case of comorbidity for autism. The search for specific psychopathological factors is a little explored aspect to date, as evidenced by the literature. Despite the studies available to date highlight the presence of psychopathological vulnerability in DS, so far there are only few reports that explore this issue systematically.
Keywords: Attention deficit/hyperactive disorder; Autism Spectrum disorder; Down syndrome; Oppositional defiant disorder;psychopathological risk
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