170,037 research outputs found
Erratum: P169 Vitamin D levels are inversely associated with inflammation in pediatric Inflammatory Bowel Disease patients (Journal of Crohn's and Colitis (2021) 15:1 (S244-S245) DOI: 10.1093/ecco-jcc/jjab076.296)
No full textThis is a corrigendum to: S Cenni, G Russo, A De Nigris, M Casertano, D Pacella, E Miele, M Martinelli, A Staiano, C Strisciuglio, P169 Vitamin D levels are inversely associated with inflammation in pediatric InflammatoryBowel Disease patients, Journal of Crohn's and Colitis, Volume 15, Issue Supplement_1, May 2021, Pages S244-S245, https://doi.org/10.1093/ecco-jcc/jjab076.296 In the originally published version of abstract P169, there is an error in an author's surname. The incorrect spelling is “A De Nigiris”. The correct spelling is “A De Nigris”. These details have been corrected only in this corrigendum to preserve the published
Dysphagia: A practical approach
No full textDysphagia is any disorder of the swallowing process. It can be classified according to the disordered phase of swallowing: oral dysphagia, pharyngeal dysphagia, esophageal dysphagia. Approximately 1% of children in the general population will experience swallowing difficulties, although the incidence is much higher in some clinical populations. Although oropharyngeal dysphagia may be the first symptom of a neuromuscular disorder, gastroesophageal reflux disease (GERD), functional esophageal disorders, and eosinophilic esophagitis are the most common causes of esophageal dysphagia. Treatment and management of dysphagia must be tailored to the clinical characteristics of the individual patient
The potential use of gene expression profile to identify useful biomarkers for the diagnosis and the treatment of pediatric inflammatory bowel diseases
No full textHirschsprung’s disease: m6A methylase VIRMA suppresses cell migration and proliferation by regulating GSK3β
No full textEsophagogastroduodenoscopy and ileocolonoscopy
No full textEndoscopy is an essential tool in the management of inflammatory bowel disease (IBD). To date, upper and lower gastrointestinal endoscopy are both required for the diagnosis of IBD; furthermore, endoscopy is essential for the differential diagnosis between ulcerative colitis (UC) and Crohn’s disease (CD), the assessment of disease location and activity, and the follow-up of disease course. The advent of mucosal healing as a new goal for IBD therapy may further increase the role of endoscopy to assess response to therapy. Ileocolonoscopy still keeps its fundamental role in the surveillance for dysplasia/neoplasia
Fever of unknown origin: Diagnostic approach through a clinical case
No full textThe paper reports the case of a 12-year-old female affected by ulcerative colitis and treated with double immunosuppressant therapy (methotrexate and infliximab). The patient presented with 7 day-lasting fever associated with pharyngotonsillar hyperaemia, cheilitis, vesicular-bollous lesions on labial mucosa and rash on malar regions, chest and upper extremities. Since full blood count showed lymphocytosis and inflammatory markers were negative, a viral infection was suspected. Virological tests identified the presence of IgM against Cytomegalovirus (CMV), Herpes and Mumps viruses, but Real-Time PCR was negative for the DNA detection of any of those viruses. Despite hospital admission and different investigations, fever persisted for more than 7 days without any explanation. Therefore, it was considered as Fever of unknown origin (FUO). FUO is often an unusual manifestation of a common disease but so far there is not a single validated diagnostic protocol. In the presented case only did the repetition of the Real-Time PCR test after a few days enable CMV DNA to be identified in the patient's blood and urine and CMV infection to be diagnosed
T regulatory cell as potential targets for immunotherapy in IBD
No full textCellular mechanisms in basic and clinical gastroenterology and hepatolog
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
Clinical and Psychological Issues in Children with Inflammatory Bowel Disease During COVID-19 Pandemic
No full textVariable clinical presentation of carbonic anhydrase deficiency:evidence for heterogeneity?
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