RESUMO
OBJECTIVES: The aim of the study was to assess long-term health-related quality of life (HRQoL) in children and adolescents with coeliac disease (CD), and their parents. METHODS: We re-evaluated prospectively the HRQoL and clinical characteristics of 80 families, assessed 5 years earlier, using a disease-specific questionnaire, the CD Dutch Questionnaire (CDDUX), and a generic questionnaire, the Paediatric Quality of Life Inventory (PedsQL). RESULTS: After a 10-year follow-up, there was no significant change in the total CDDUX and PedsQL scores in children and their parents when compared to the evaluation conducted 5 years earlier. The total CDDUX score reflected a neutral QoL, while for the generic PedsQL was good-very good. The only significant decrease after 5 years was the PedsQL subdomain Emotional functioning. Patients who admitted voluntarily eating gluten reported lower score in CDDUX Diet. Lower scores in subdomain "Physical functioning" (PedsQL) were reported in patients with positivity of TTG or associated diseases. CONCLUSIONS: The CDDUX score indicated a consistently stable and neutral QoL perception among coeliac patients and caregivers, even after 10-year postdiagnosis, suggesting minimal fluctuations in the impact of CD on disease-specific health domains over time. Furthermore, the consistently good PedsQL score could be a reflection of the resilience of coeliac families in coping with this chronic condition. Gluten-free diet compliance was confirmed to be determinant of HRQoL in the long term. The study confirms the importance of extending surveillance on these patients, possibly using different questionnaires, to assess QoL from different perspectives.
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Doença Celíaca , Qualidade de Vida , Criança , Adolescente , Humanos , Qualidade de Vida/psicologia , Seguimentos , Doença Celíaca/psicologia , Pais/psicologia , Inquéritos e QuestionáriosRESUMO
INTRODUCTION: The purpose of this study was to identify possible serum biomarkers predicting celiac disease (CD) onset in children at risk. METHODS: A subgroup from an ongoing, international prospective study of children at risk of CD was classified according to an early trajectory of deamidated gliadin peptides (DGPs) immunoglobulin (Ig) G and clinical outcomes (CD, potential CD, and CD autoimmunity). RESULTS: Thirty-eight of 325 children developed anti-tissue transglutaminase IgA antibody (anti-tTG IgA) seroconversion. Twenty-eight of 38 children (73.6%) showed an increase in anti-DGPs IgG before their first anti-tTG IgA seroconversion. DISCUSSION: Anti-DGPs IgG can represent an early preclinical biomarker predicting CD onset in children at risk.
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Doença Celíaca , Criança , Humanos , Estudos Prospectivos , Gliadina , Imunoglobulina A , Autoanticorpos , Imunoglobulina G , Biomarcadores , TransglutaminasesRESUMO
BACKGROUND & AIMS: Mucosal healing, determined by endoscopic evaluation, is one of the most important prognostic markers for patients with inflammatory bowel diseases. Findings from histologic evaluation, however, could complement findings from endoscopy in assessing mucosal responses to treatment. We analyzed long-term results of children treated with thalidomide to determine the association between clinical response and histology and endoscopy findings. METHODS: We collected data from 2 multicenter trials of 70 children with refractory Crohn's disease (CD) or ulcerative colitis (UC) (2-18 years old; ileocolonic or colonic disease) given thalidomide or placebo (NCT00720538). Clinical remission and clinical response at 8 weeks were defined as a pediatric CD activity index scores 10 points or lower and a decrease of at least 50% from baseline, respectively, for patients with CD; and as a pediatric UC activity index score below 10 and a decrease of at least 20 points from baseline, respectively, for patients with UC. Patients with a clinical response to 8 weeks' treatment with thalidomide underwent endoscopic examination with biopsy collection at study weeks 12 and 52. Severity of inflammation in patients with UC was assessed by Mayo score and in patients with CD by 4-grade system. Biopsies were assessed for signs of active inflammation, erosion or ulceration, and crypt abscesses and assigned a histologic score. RESULTS: Clinical remission was observed in 42 patients (60.0%) and clinical response in 45 patients (64.2%) at Week 8. At Week 52, a total of 38 patients (54.3%) were still in clinical remission or still had a clinical response; 29 patients (41.4%) had mucosal healing, defined as complete healing of erosions or ulcerations, and 20 patients (27.7%) had histologic healing, defined as complete absence of markers of inflammation. Of patients with clinical remission or clinical response, 75.3% also had mucosal healing and 52.6% also had histologic healing. The probability of achieving mucosal healing decreased significantly with increasing values of erythrocyte sedimentation rate (adjusted odds ratio, 0.96; 95% CI, 0.93-0.98; P = .006). CONCLUSIONS: In a long-term analysis of data from 2 clinical trials of pediatric patients with CD or UC, 52 weeks' treatment with thalidomide led to clinical remission in 54.3% of patients with ileocolonic or colonic disease; of these patients, 75.3% had mucosal healing and 52.6% also had histologic healing. Further studies are needed to determine how thalidomide therapy affects long-term progression of inflammatory bowel diseases. (ClinicalTrials.gov number NCT00720538).
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Imunossupressores/uso terapêutico , Doenças Inflamatórias Intestinais/tratamento farmacológico , Doenças Inflamatórias Intestinais/patologia , Talidomida/uso terapêutico , Adolescente , Criança , Pré-Escolar , Ensaios Clínicos como Assunto , Endoscopia , Feminino , Seguimentos , Histocitoquímica , Humanos , Mucosa Intestinal/patologia , Masculino , Estudos Multicêntricos como Assunto , Placebos/administração & dosagem , Estudos Prospectivos , Resultado do TratamentoRESUMO
Importance: The extent and factors associated with risk of diagnostic delay in pediatric celiac disease (CD) are poorly understood. Objectives: To investigate the diagnostic delay of CD in childhood, and to assess factors associated with this delay. Design, Setting, and Participants: Multicenter, retrospective, cross-sectional study (2010-2019) of pediatric (aged 0-18 years) patients with CD from 13 pediatric tertiary referral centers in Italy. Data were analyzed from January to June 2023. Main Outcomes and Measures: The overall diagnostic delay (ie, the time lapse occurring from the first symptoms or clinical data indicative of CD and the definitive diagnosis), further split into preconsultation and postconsultation diagnostic delay, were described. Univariable and multivariable linear regression models for factors associated with diagnostic delay were fitted. Factors associated with extreme diagnostic delay (ie, 1.5 × 75th percentile) and misdiagnosis were assessed. Results: A total of 3171 patients with CD were included. The mean (SD) age was 6.2 (3.9) years; 2010 patients (63.4%) were female; and 10 patients (0.3%) were Asian, 41 (1.3%) were Northern African, and 3115 (98.3%) were White. The median (IQR) overall diagnostic delay was 5 (2-11) months, and preconsultation and postconsultation diagnostic delay were 2 (0-6) months and 1 (0-3) month, respectively. The median (IQR) extreme overall diagnostic delay (586 cases [18.5%]) was 11 (5-131) months, and the preconsultation and postconsultation delays were 6 (2-120) and 3 (1-131) months, respectively. Patients who had a first diagnosis when aged less than 3 years (650 patients [20.5%]) showed a shorter diagnostic delay, both overall (median [IQR], 4 [1-7] months for patients aged less than 3 years vs 5 [2-12] months for others) and postconsultation (median [IQR], 1 [0-2] month for patients aged less than 3 years vs 2 [0-4] months for others). A shorter delay was registered in male patients, both overall (median [IQR], 4 [1-10] months for male patients vs 5 [2-12] months for female patients) and preconsultation (median [IQR], 1 [0-6] month for male patients vs 2 [0-6] months for female patients). Family history of CD was associated with lower preconsultation delay (odds ratio [OR], 0.59; 95% CI, 0.47-0.74) and lower overall extreme diagnostic delay (OR, 0.75; 95% CI, 0.56-0.99). Neurological symptoms (78 patients [21.5%]; OR, 1.35; 95% CI, 1.03-1.78), gastroesophageal reflux (9 patients [28.1%]; OR, 1.87; 95% CI, 1.02-3.42), and failure to thrive (215 patients [22.6%]; OR, 1.62; 95% CI, 1.31-2.00) showed a more frequent extreme diagnostic delay. A previous misdiagnosis (124 patients [4.0%]) was more frequently associated with gastroesophageal reflux disease, diarrhea, bloating, abdominal pain, constipation, fatigue, osteopenia, and villous atrophy (Marsh 3 classification). Conclusions and Relevance: In this cross-sectional study of pediatric CD, the diagnostic delay was rather short. Some factors associated with risk for longer diagnostic delay and misdiagnosis emerged, and these should be addressed in future studies.
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Doença Celíaca , Refluxo Gastroesofágico , Criança , Feminino , Humanos , Masculino , Dor Abdominal , Doença Celíaca/diagnóstico , Doença Celíaca/epidemiologia , Estudos Transversais , Diagnóstico Tardio , Estudos Retrospectivos , Pré-EscolarRESUMO
IMPORTANCE: Pediatric-onset Crohn disease is more aggressive than adult-onset disease, has high rates of resistance to existing drugs, and can lead to permanent impairments. Few trials have evaluated new drugs for refractory Crohn disease in children. OBJECTIVE: To determine whether thalidomide is effective in inducing remission in refractory pediatric Crohn disease. DESIGN, SETTING, AND PATIENTS: Multicenter, double-blind, placebo-controlled, randomized clinical trial of 56 children with active Crohn disease despite immunosuppressive treatment, conducted August 2008-September 2012 in 6 pediatric tertiary care centers in Italy. INTERVENTIONS: Thalidomide, 1.5 to 2.5 mg/kg per day, or placebo once daily for 8 weeks. In an open-label extension, nonresponders to placebo received thalidomide for an additional 8 weeks. All responders continued to receive thalidomide for an additional minimum 52 weeks. MAIN OUTCOMES AND MEASURES: Primary outcomes were clinical remission at week 8, measured by Pediatric Crohn Disease Activity Index (PCDAI) score and reduction in PCDAI by ≥25% or ≥75% at weeks 4 and 8. Primary outcomes during the open-label follow-up were clinical remission and 75% response. RESULTS: Twenty-eight children were randomized to thalidomide and 26 to placebo. Clinical remission was achieved by significantly more children treated with thalidomide (13/28 [46.4%] vs 3/26 [11.5%]; risk ratio [RR], 4.0 [95% CI, 1.2-12.5]; P = .01; number needed to treat [NNT], 2.86). Responses were not different at 4 weeks, but greater improvement was observed at 8 weeks in the thalidomide group (75% response, 13/28 [46.4%] vs 3/26 [11.5%]; RR, 4.0 [95% CI, 1.2-12.5]; NNT = 2.86; P = .01; and 25% response, 18/28 [64.2%] vs 8/26 [30.8%]; RR, 2.1 [95% CI, 1.1-3.9]; NNT = 2.99; P = .01). Of the nonresponders to placebo who began receiving thalidomide, 11 of 21 (52.4%) subsequently reached remission at week 8 (RR, 4.5 [95% CI, 1.4-14.1]; NNT = 2.45; P = .01). Overall, 31 of 49 children treated with thalidomide (63.3%) achieved clinical remission, and 32 of 49 (65.3%) achieved 75% response. Mean duration of clinical remission in the thalidomide group was 181.1 weeks (95% CI, 144.53-217.76) vs 6.3 weeks (95% CI, 3.51-9.15) in the placebo group (P < .001). Cumulative incidence of severe adverse events was 2.1 per 1000 patient-weeks, with peripheral neuropathy the most frequent severe adverse event. CONCLUSIONS AND RELEVANCE: In children and adolescents with refractory Crohn disease, thalidomide compared with placebo resulted in improved clinical remission at 8 weeks of treatment and longer-term maintenance of remission in an open-label follow-up. These findings require replication to definitively determine clinical utility of this treatment. TRIAL REGISTRATION: clinicaltrials.gov Identifier: NCT00720538.
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Doença de Crohn/tratamento farmacológico , Imunossupressores/uso terapêutico , Talidomida/uso terapêutico , Adolescente , Idade de Início , Criança , Doença de Crohn/patologia , Método Duplo-Cego , Feminino , Humanos , Imunossupressores/efeitos adversos , Masculino , Indução de Remissão , Índice de Gravidade de Doença , Talidomida/efeitos adversos , Resultado do TratamentoRESUMO
Celiac disease (CD) has a high prevalence but remains largely underdiagnosed. Although extensive studies have confirmed that children with CD do not have an increased risk of severe COVID-19, public health regulations associated with the SARS-CoV-2 pandemic may have exacerbated this problem. The aim of this study was to assess the effect of SARS-CoV-2 on the number of new-onset CD cases. Additionally, the role of SARS-CoV-2 in autoimmune diseases and its influence on clinical practice in pediatric gastroenterology were briefly reviewed. We described the data from the hospital electronic registry of new-onset CD, during the COVID-19 pandemic and 2 years before. A total of 423 children were diagnosed with CD between March 2018 and February 2022: 228 in the 2-year pre-COVID-19 period and 195 during the pandemic. The number of patients during the COVID-19 pandemic was 14.5% lower than in the previous years. The quarterly comparison of CD diagnoses showed a reduction in all quarters. A reduction in diagnoses during the lockdown and in the following months was evident and not compensated thereafter. This is the first study to evaluate the impact of SARS-CoV-2 on the diagnosis of CD in children. Further studies are necessary to improve the system of biopsy-sparing diagnosis and to evaluate the effect of the diagnostic delay. Special attention should be given to the implementation of telemedicine services.
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COVID-19 , Doença Celíaca , Gastroenterologia , Criança , Humanos , SARS-CoV-2 , COVID-19/diagnóstico , COVID-19/epidemiologia , Doença Celíaca/diagnóstico , Doença Celíaca/epidemiologia , Pandemias , Diagnóstico Tardio , Controle de Doenças Transmissíveis , Teste para COVID-19RESUMO
We aimed to assess Health-Related Quality of Life (HRQoL) of Italian children and their parents with coeliac disease (CD) using the Coeliac Disease Dutch Questionnaire (CDDUX). The CDDUX underwent a cross-cultural adaptation in a multi-step process, according to international guidelines. A total of 224 children aged between 8-18 years and their parents were prospectively recruited. Cronbach α coefficient was determined as a measure of internal consistency of the questionnaire and inter-children/parent reliability by intraclass correlation coefficient. Univariate and bivariate regression models were used to evaluate correlations between clinical variables and children and parents subclasses of CDDUX and overall mean Paediatric Quality of Life Inventory (PedsQL). The Italian CDDUX proved to be valid and reliable, mean CDDUX total score revealing a neutral evaluation of the quality of life in children 52.6 ± 17.2 and parents 49.5 ± 17.9 (p = 0.07) with strong correlation with PedsQL. The only clinical variable which appeared to affect significantly quality of life both in children and parents was the lower age. A comparison with our results showed remarkable differences in the HRQoL of populations of various nationalities. The Italian version of the CDDUX questionnaire is a simple and reliable tool for assessing the HRQoL in children and adolescents with CD.
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Doença Celíaca , Qualidade de Vida , Inquéritos e Questionários , Adolescente , Doença Celíaca/epidemiologia , Doença Celíaca/fisiopatologia , Doença Celíaca/psicologia , Criança , Comorbidade , Dieta Livre de Glúten , Feminino , Humanos , Itália , Masculino , Países Baixos , Pais , Psicometria , Reprodutibilidade dos TestesAssuntos
Síndrome de Alagille/cirurgia , Procedimentos Endovasculares , Aneurisma Intracraniano/terapia , Transplante de Fígado , Doença de Moyamoya/terapia , Procedimentos Neurocirúrgicos , Síndrome de Alagille/complicações , Síndrome de Alagille/diagnóstico , Angiografia Digital , Angiografia Cerebral/métodos , Criança , Procedimentos Endovasculares/instrumentação , Feminino , Humanos , Aneurisma Intracraniano/diagnóstico , Aneurisma Intracraniano/etiologia , Angiografia por Ressonância Magnética , Doença de Moyamoya/diagnóstico , Doença de Moyamoya/etiologia , Stents , Resultado do TratamentoRESUMO
BACKGROUND: Scientific literature shows a high prevalence of Small Intestinal Bacterial Overgrowth (SIBO) in patients with Cystic Fibrosis (CF). The role of SIBO in nutritional status and gastrointestinal symptoms in CF is not known. Our aim was to study epidemiology and clinical impact of SIBO while assessing the efficacy of rifaximin in eradicating SIBO in CF patients. METHODS: Symptoms questionnaire and Glucose Breath Test (GBT) were given to 79 CF patients (median age 19.6 years; 9.2-36.9). Subjects with a positive GBT were enrolled in a randomized controlled trial and received rifaximin 1200 mg for 14 days or no treatment. Questionnaire and GBT were repeated 1 month after the end of treatment or 45 days after the first negative GBT. RESULTS: Out of 79 patients, 25 were affected by SIBO (31.6%) with a significant correlation with lower BMI, SDS-BMI (p < 0.05) and serum albumin levels (p < 0.05), independently from pancreas insufficiency. Twenty-three patients took part in the randomized trial, 13 patients (56.5%) in rifaximin group and 10 patients (43.5%) in control group. Eradication rate of SIBO was 9/10 (90%) in rifaximin group and 2/6 (33.3%) in control group (p < 0.05). In the rifaximin group, gastrointestinal symptom improvement was observed in 4/5 patients aged ≤ 14 years and in 0/5 patients aged > 14 years (p < 0.05); in 2/6 patients in the control group. CONCLUSIONS: CF patients show a high prevalence of SIBO, related to a poorer nutritional status. Rifaximin therapy is well tolerated and the results are promising in terms of efficacy in eradicating small intestinal bacterial overgrowth in CF.
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Síndrome da Alça Cega/tratamento farmacológico , Fibrose Cística/tratamento farmacológico , Intestino Delgado/microbiologia , Rifaximina/uso terapêutico , Adolescente , Adulto , Fatores Etários , Índice de Massa Corporal , Testes Respiratórios , Estudos de Casos e Controles , Criança , Correlação de Dados , Feminino , Humanos , Masculino , Albumina Sérica/metabolismo , Resultado do Tratamento , Adulto JovemRESUMO
BACKGROUND: Thalidomide is an effective therapy in children with inflammatory bowel disease refractory to standard treatments, but thalidomide-induced peripheral neuropathy (TiPN) limits its long-term use. We aimed to investigate the risk factors and the outcome of TiPN in children with inflammatory bowel disease. METHODS: Within a retrospective multicenter cohort study, we evaluated prevalence and evolution of TiPN. Clinical data and candidate genetic profiles of patients with and without TiPN were compared with detect predisposing factors. RESULTS: One hundred forty-two patients were identified. TiPN was found in 72.5% of patients (38.7% clinical and instrumental alterations, 26.8% exclusive electrophysiological anomalies, and 7.0% exclusive neurological symptoms). Median TiPN-free period of treatment was 16.5 months; percentage of TiPN-free patients was 70.0% and 35.6% at 12 and 24 months of treatment, respectively. The risk of TiPN increased depending on the mean daily dose (50-99 mg/d adjusted hazard ratio 2.62; 95% confidence interval [CI], 1.31-5.21; 100-149 mg/d adjusted hazard ratio 6.16; 95% CI, 20.9-13.06; >150 mg/d adjusted hazard ratio 9.57; 95% CI, 2.6-35.2). Single nucleotide polymorphisms in ICAM1 (rs1799969) and SERPINB2 (rs6103) genes were found to be protective against TiPN (odds ratio 0.15; 95% CI, 0.03-0.82 and 0.36; 95% CI, 0.14-0.88, respectively). TiPN was the cause of drug suspension in 41.8% of patients. Clinical symptoms resolved in 89.2% of cases, whereas instrumental alteration persisted in more than half of the patients during a short follow-up. CONCLUSIONS: In children with inflammatory bowel disease, TiPN is common but mild and generally reversible. Cumulative dose seems to be the most relevant risk factor, whereas polymorphisms in genes involved in neuronal inflammation may be protective.
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Doenças Inflamatórias Intestinais/tratamento farmacológico , Doenças do Sistema Nervoso Periférico/induzido quimicamente , Doenças do Sistema Nervoso Periférico/genética , Talidomida/efeitos adversos , Adolescente , Criança , Feminino , Humanos , Molécula 1 de Adesão Intercelular/genética , Itália , Modelos Logísticos , Masculino , Inibidor 2 de Ativador de Plasminogênio/genética , Polimorfismo de Nucleotídeo Único , Estudos Retrospectivos , Fatores de Risco , Análise de Sobrevida , Talidomida/administração & dosagemRESUMO
BACKGROUND: In a randomized controlled trial, thalidomide has shown to be effective in refractory Crohn's disease in children. This pilot study aimed at evaluating thalidomide in refractory pediatric ulcerative colitis (UC). METHODS: Double-blind, placebo-controlled randomized clinical trial on thalidomide 1.5 to 2.5 mg/kg/day in children with active UC despite multiple immunosuppressive treatments. In an open-label extension, nonresponders to placebo received thalidomide for an additional 8 weeks; all responders were followed up for a minimum of 52 weeks. RESULTS: Twenty-six children with refractory UC were randomized to thalidomide or placebo. Clinical remission at week 8 was achieved by significantly more children treated with thalidomide {10/12 (83.3%) versus 2/11 (18.8%); risk ratio, 4.5 (95% confidence interval [CI], 1.2-16.4); P = 0.005; number needed to treat, 1.5}. Of the nonresponders to placebo who were switched to thalidomide, 8 of 11 (72.7%) subsequently reached remission at week 8 (risk ratio, 4.0 [95% CI, 1.1-14.7]; number needed to treat, 2.45; P = 0.01). Clinical remission in the thalidomide group was 135.0 weeks (95% CI, 32-238), compared with 8.0 weeks (95% CI, 2.4-13.6) in the placebo group (P < 0.0001). Cumulative incidence of severe adverse events was 3.1 per 1000 patient-weeks. Peripheral neuropathy and amenorrhea were the most frequent adverse events. CONCLUSIONS: In this pilot randomized controlled trial on cases of UC refractory to immunosuppressive therapy, thalidomide compared with placebo resulted in improved clinical remission at 8 weeks of treatment and in longer term maintenance of remission. These findings require replication in larger clinical studies evaluating both thalidomide efficacy and safety.
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Colite Ulcerativa/tratamento farmacológico , Resistência a Medicamentos/efeitos dos fármacos , Imunossupressores/uso terapêutico , Terapia de Salvação , Talidomida/uso terapêutico , Adolescente , Criança , Pré-Escolar , Método Duplo-Cego , Feminino , Seguimentos , Humanos , Masculino , Projetos Piloto , Prognóstico , Indução de RemissãoRESUMO
Mutations in the nuclear SURF1 gene are specifically associated with cytochrome c oxidase (COX)-deficient Leigh syndrome. MR imaging abnormalities in three children with this condition involved the subthalamic nuclei, medulla, inferior cerebellar peduncles, and substantia nigra in all cases. The dentate nuclei and central tegmental tracts were involved in two cases each (all instances), and the putamina, interpeduncular nucleus, and pallido-cortical-nigro-cortical tracts in one. MR imaging pattern recognition can suggest an underlying COX deficiency and should prompt investigators to search for SURF1 gene mutations.
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Encefalopatias Metabólicas/diagnóstico , Deficiência de Citocromo-c Oxidase/diagnóstico , Deficiência de Citocromo-c Oxidase/genética , Doença de Leigh/diagnóstico , Doença de Leigh/genética , Imageamento por Ressonância Magnética , Mutação/genética , Proteínas/genética , Pareamento de Bases/genética , Encéfalo/patologia , Encefalopatias Metabólicas/genética , Pré-Escolar , Deleção Cromossômica , Análise Mutacional de DNA , Diagnóstico Diferencial , Éxons , Evolução Fatal , Feminino , Seguimentos , Triagem de Portadores Genéticos , Humanos , Lactente , Recém-Nascido , Íntrons , Masculino , Proteínas de Membrana , Proteínas Mitocondriais , Medula Espinal/patologiaRESUMO
Inflammatory bowel disease (IBD) is often associated with extraintestinal manifestations (EIMs) such as optic neuritis (ON), although this has been described in only a few adult patients so far, all of whom were affected with Crohn's disease (CD). Furthermore, ON and demyelinating diseases have been demonstrated to be more frequent in IBD patients than in control populations. In our current case report, we describe a child with active CD who developed sudden blindness due to bilateral ON that was not related to any known cause, and that promptly responded to a high dose of steroids. Investigations and a clinical follow-up have so far ruled out the development of demyelinating diseases in this patient. To our knowledge, this is the first report of ON in a pediatric patient with CD. Possible explanations for this case include an episodic EIM of an active bowel disease, an associated autoimmune disorder such as a recurrent isolated ON, the first manifestation of multiple sclerosis, or another demyelinating disease that could appear in a later follow-up.
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Cegueira/etiologia , Doença de Crohn/complicações , Neurite Óptica/complicações , Neurite Óptica/etiologia , Criança , Humanos , MasculinoRESUMO
BACKGROUND AND AIMS: Chronic intestinal failure is a condition causing severe impairment of intestinal functions; long-term total parenteral nutrition is required to provide adequate nutritional support. METHODS: This is a 15-year follow-up study of paediatric patients with intestinal failure receiving long-term home parenteral nutrition. RESULTS: Thirty-six patients were included in the study, all aged <16 years. Total parenteral nutrition and home parenteral nutrition were administered respectively to 100.97 and 85.20 patients-year. Today, 12 out of 36 patients are still on parenteral nutrition. A total of 99 central venous catheters were inserted, for mean 2.75 catheters/patient. The overall incidence rates of catheter-related complications was 1.79 per 1000 days-catheter for sepsis and 3.37 per 1000 days-catheter for mechanical complications. Two multivariate Cox-models have been used to examine the role of some predictors for septic or mechanical complications. The only risk factor for septic complications was the indication for parenteral nutrition, and the only predictor of mechanical complications was the insertion period. CONCLUSIONS: Our experience in the treatment of paediatric patients with gastrointestinal diseases confirms that long-term parenteral nutrition has become a safe and appropriate method in the treatment of severe chronic intestinal failure.
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Cateterismo Venoso Central/efeitos adversos , Enteropatias/terapia , Nutrição Parenteral Total no Domicílio/efeitos adversos , Sepse/etiologia , Cateterismo Venoso Central/estatística & dados numéricos , Criança , Pré-Escolar , Doença Crônica , Falha de Equipamento/estatística & dados numéricos , Feminino , Seguimentos , Humanos , Incidência , Lactente , Itália , Masculino , Análise Multivariada , Nutrição Parenteral Total no Domicílio/estatística & dados numéricos , Modelos de Riscos Proporcionais , Fatores de Risco , Sepse/epidemiologiaRESUMO
OBJECTIVE: To evaluate the prevalence of beta-cell autoimmunity and the usefulness of a type 1 diabetes screening in patients with celiac disease. RESEARCH DESIGN AND METHODS: We measured GAD antibodies (GADAs), insulinoma-associated protein 2 antigens (IA-2As), and insulin autoantibodies (IAAs) in 188 young Italian patients with celiac disease (66 male [35.1%]). Mean age at celiac disease diagnosis was 5.4 years (0.5-17.1), and mean celiac disease duration was 4.2 years (0-28.8). Celiac disease was diagnosed by jejunal biopsy after positivity for endomysial and tissue transglutaminase antibody was confirmed. RESULTS: GADAs were positive in seven patients (3.7%), and IA-2As were positive in two patients. IAAs were negative in all cases. Metabolic evaluation was normal, and no patients developed diabetes during follow-up. There was no significant association among beta-cell autoimmunity and sex, age, pubertal stage, family history, or coexistence of other autoimmune disorders; compliance to a gluten-free diet was confirmed. CONCLUSIONS: Our results showed a low prevalence of beta-cell autoimmunity and do not support a precocious screening for beta-cell autoimmunity in young celiac disease patients.