Gastric outlet obstruction in an 11-year-old girl: A case report.

Pyloric stenosis commonly affects infants and rarely causes gastric outlet obstruction in adolescents and older children. We present the case of an 11-year-old girl with a 2-month history of recurrent postprandial vomiting and weight loss. On physical examination, the patient presented with abdominal distension. Upper gastrointestinal endoscopy revealed a very small pyloric orifice through which the endoscope could not be advanced. Abdominal ultrasonography and a computed tomography confirmed pylorus thickening. She underwent Heineke-Mikulicz pyloroplasty with symptom resolution.

Correction: Wilson's Disease: A Prevalence Study in a Portuguese Population.

[This corrects the article DOI: 10.7759/cureus.43718.].

Wilson's Disease: A Prevalence Study in a Portuguese Population.

Introduction Wilson's disease (WD) is a rare and underdiagnosed genetic disorder caused by anomalous tissue copper deposition, and for which epidemiological studies, specifically in Portugal, are scarce. Objectives This study aimed to evaluate the prevalence and incidence of WD and provide a description of its main clinical and laboratory features. Methods A retrospective study was carried out, with a search between 1995 and 2015, of all patients with a minimum follow-up of three months and birth confirmed in the northern region of Portugal, with an estimated population of 3,689,682 inhabitants. Database collection was based on the Portuguese National Health Service's clinical coding system, relying on clinical data from 13 northern Portuguese hospitals, liver biopsy histology results, and hospital prescription records. Clinical and biochemical correlations were statistically assessed using chi-square, Mann-Whitney U, Friedman, and Wilcoxon tests. Results Over the 20-year period, a prevalence of 1:37.000 and an incidence of one per million person-year was found. A total of 94 patients were analyzed, with a slight male predominance (53%), the majority with the onset of clinical manifestations in pediatric age (56%), with a median age at diagnosis of 16.6 years (interquartile range of 12.3-20,.8 years). Most patients presented with predominant liver disease (54.8%), with more than a third with cirrhosis; mixed hepatic and neurological manifestations in 17.9%; and mainly neurological symptoms in 10.7% of the patients. Neurological impairment was strongly associated with delayed development of the manifestations of the disease (p = 0.001) and also a higher detection of Kayser-Fleischer rings (p < 0.001), present in 27.0% of the patients. Regarding therapy, penicillamine has been the most widely used, with adverse reactions reported in 24.8%. At six and 12 months after initiation of therapy, a significant decrease in liver enzymes was found (ALT: p = 0.002; AST: p = 0.002, respectively), but no significant reduction was observed in urinary copper excretion. Conclusion This was one of the first studies regarding WD prevalence in a Portuguese population, contributing to a better understanding of the epidemiology, diagnosis, and management of WD in the northern region of Portugal. WD should be considered in any individual with unexplained hepatic or neurological manifestations, and initial symptoms may manifest at an early age, even in children less than five years old. A high percentage of patients were identified in the early stages of the disease by asymptomatic elevation of transaminases. Following copper chelation therapy, cytolysis markers appear to be more sensitive indicators of treatment response.

EVOLUTION OF DIAGNOSTIC DELAY IN PEDIATRIC INFLAMMATORY BOWEL DISEASE AND THE IMPACT OF THE COVID-19 PANDEMIC.

BACKGROUND: Pediatric inflammatory bowel disease (IBD) is increasingly prevalent, but diagnosis can still be challenging. Diagnostic delay is particularly deleterious in this age group. OBJECTIVE: This study explores the evolution of diagnostic delay in pediatric IBD and the influence of the COVID-19 pandemic. METHODS: Retrospective study including all pediatric IBD patients diagnosed during 2014, 2019 and 2020 in a tertiary hospital. Diagnostic delay, time to first medical visit, time to pediatric gastroenterologist (PG) visit and time to diagnosis were calculated and compared within a gap of five years (2019 and 2014) and with the year of onset of the pandemic (2020 and 2019). RESULTS: A total of 93 participants were included (2014: 32, 2019: 30, 2020: 31). No significant differences were observed in diagnostic delay, time to first medical visit in Crohn's disease (CD), time to PG visit and time to diagnosis when comparing 2019-2014 and 2020-2019. Time to first visit in ulcerative colitis (UC) and Undetermined-IBD increased in 2019 (P=0.03), with new decrease in 2020 (P=0.04). Diagnostic delay was longer in DC compared to UC plus Undetermined-IBD. CONCLUSION: Diagnostic delay is still an important matter in pediatric IBD, with no significant change over the last years. The time to the first PG visit and the time for diagnosis seem to have the greatest impact on diagnostic delay. Thus, strategies to enhance recognition of IBD symptoms among first-line physicians and to improve communication, facilitating referral, are of utmost importance. Despite the restraints in the health care system caused by the pandemic, time to diagnosis in pediatric IBD was not impaired during 2020 in our center.

Isotretinoin-Induced Distal Ileitis Mimicking Crohn's Disease.

Terminal ileitis is a common condition defined as inflammation of the terminal portion of the ileum, which is typically associated with inflammatory bowel disease (IBD), classically Crohn's disease (CD). However, it can have other etiologies, including drug-induced ones. Isotretinoin is an effective and commonly used treatment for acne vulgaris, presenting multiple adverse effects. There have been discussions over its association with enteric inflammation, particularly over IBD emergence risk. We report a case of a previously healthy 17-year-old female who presented transitory clinical, laboratory, imaging, and endoscopic evidence of distal ileitis, temporally related to extended isotretinoin treatment and mimicking CD. Repeated clinical, laboratory, imaging, and endoscopic reassessment after isotretinoin discontinuation confirmed an almost complete resolution of the condition, avoiding IBD misdiagnosis and specific medication initiation. Our case highlights the differential diagnosis of ileitis as being of critical importance to avoid further unnecessary diagnostic investigations and inadequate treatment. Serial re-evaluation may be of key importance to reach a final diagnosis. Although recent literature suggests that isotretinoin is not associated with an increased IBD risk, our case highlights the possibility of it inducing small bowel injury and inflammation, similar to what has been reported with other drugs.

Evolução do atraso diagnóstico na doença inflamatória intestinal em idade pediátrica e o impacto da pandemia COVID-19 / Evolution of diagnostic delay in pediatric inflammatory bowel disease and the impact of the covid-19 pandemic

ABSTRACT Background: Pediatric inflammatory bowel disease (IBD) is increasingly prevalent, but diagnosis can still be challenging. Diagnostic delay is particularly deleterious in this age group. Objective This study explores the evolution of diagnostic delay in pediatric IBD and the influence of the COVID-19 pandemic. Methods Retrospective study including all pediatric IBD patients diagnosed during 2014, 2019 and 2020 in a tertiary hospital. Diagnostic delay, time to first medical visit, time to pediatric gastroenterologist (PG) visit and time to diagnosis were calculated and compared within a gap of five years (2019 and 2014) and with the year of onset of the pandemic (2020 and 2019). Results A total of 93 participants were included (2014: 32, 2019: 30, 2020: 31). No significant differences were observed in diagnostic delay, time to first medical visit in Crohn's disease (CD), time to PG visit and time to diagnosis when comparing 2019-2014 and 2020-2019. Time to first visit in ulcerative colitis (UC) and Undetermined-IBD increased in 2019 (P=0.03), with new decrease in 2020 (P=0.04). Diagnostic delay was longer in DC compared to UC plus Undetermined-IBD. Conclusion Diagnostic delay is still an important matter in pediatric IBD, with no significant change over the last years. The time to the first PG visit and the time for diagnosis seem to have the greatest impact on diagnostic delay. Thus, strategies to enhance recognition of IBD symptoms among first-line physicians and to improve communication, facilitating referral, are of utmost importance. Despite the restraints in the health care system caused by the pandemic, time to diagnosis in pediatric IBD was not impaired during 2020 in our center.

RESUMO Contexto Apesar da prevalência crescente da doença inflamatória intestinal (DII) em idade pediátrica, o seu diagnóstico pode ser desafiante. Um atraso no diagnóstico é particularmente deletério nesta faixa etária. Objetivo Este estudo investiga a evolução do atraso diagnóstico na DII pediátrica e o impacto da pandemia COVID-19 no mesmo. Métodos Estudo retrospetivo que incluiu todos os doentes em idade pediátrica diagnosticados com DII durante 2014, 2019 e 2020 num hospital terciário. O atraso diagnóstico, o tempo para a primeira visita médica, o tempo para a primeira visita ao gastroenterologista pediátrico (GP) e o tempo para o diagnóstico foram calculados e comparados num intervalo de cinco anos (2019 e 2014) e com o ano marcado pelo surgimento da pandemia COVID-19 (2020 e 2019). Resultados Foram incluídos 93 participantes (2014: 32, 2019: 30, 2020: 31). Não se observou diferença significativa no atraso diagnóstico, no tempo para a primeira visita médica na doença de Crohn (DC), no tempo para a primeira visita ao GP e no tempo para o diagnóstico após comparação entre 2019-2014 e 2020-2019. Na colite ulcerosa e colite indeterminada, o tempo para a primeira visita médica aumentou em 2019 (P=0,03), com nova diminuição em 2020 (P=0,04). O atraso diagnóstico foi superior na DC comparativamente com a colite ulcerosa e colite indeterminada. Conclusão O atraso diagnóstico na DII pediátrica continua a ser um tema importante, que não sofreu alteração significativa ao longo dos últimos anos. O tempo para a primeira visita ao GP e o tempo para o diagnóstico parecem ter maior impacto no atraso diagnóstico, pelo que são necessárias estratégias para aumentar o reconhecimento dos sintomas da DII entre os médicos de primeira linha, bem como melhorar a comunicação e a referenciação. Apesar das restrições causadas pela pandemia no sistema de saúde, o tempo para o diagnóstico na DII pediátrica não foi comprometido no nosso centro em 2020.

Impact of COVID-19 in Pediatric Patients and Young Adults with Inflammatory Bowel Disease.

Introduction: Acute COVID-19 in pediatric and young adult patients tends to be milder in severity compared to adult infection. Recent studies seem to show that inflammatory bowel disease (IBD) patients are at no greater risk than the general population. We aim to describe our experience in the follow-up of pediatric and young adult patients with IBD followed in our center and determine possible risk factors of said population for severe COVID-19. Methods: We performed a retrospective study of all patients aged under 25 years followed for IBD at the Unit of Pediatric Gastroenterology in a tertiary center between December 2019 and April 2021 evaluating the incidence of COVID-19 and characterization of positive cases. Results: Of the 268 participants, 24 had COVID-19: the mean age was 19 years old and gender had an equal distribution; 75% (n = 18) had Crohn's disease, whereas only 25% (n = 6) had ulcerative colitis. Most patients were in clinical remission (n = 21). The majority of patients were under treatment with a tumor necrosis factor (TNF) antagonist (58%, n = 14), mainly infliximab, and most had no comorbidities other than IBD (83%). Regarding COVID-19, 17% of the patients were asymptomatic while the rest had only mild symptoms. There were no reported gastrointestinal complaints, no complications nor hospitalizations. Most patients did not require interruption of their IBD treatment. Conclusions: Our data suggest that pediatric and young adult IBD patients have a low risk for complications and hospitalization, regardless of IBD treatment. We believe that this experience is encouraging and allows for safe counseling regarding treatment options and school attendance in pediatric and young adult IBD patients.

Introdução: Na população pediátrica e de jovens adultos a gravidade da COVID-19 tende a ser moderada quando comparada com os doentes adultos. Os estudos mais recentes sugerem que os doentes com doença inflamatória intestinal (DII) não têm risco acrescido em relação à população geral. O objetivo do presente estudo é a descrição da nossa experiência no follow-up de crianças e jovens adultos com DII a COVID-19 e determinar a existência de possíveis fatores de risco para doença grave na referida população. Métodos: Foi realizado um estudo retrospetivo de todos os doentes com idade inferior a 25 anos, seguidos na Unidade de Gastrenterologia Pediátrico de um centro terciário por DII, com avaliação da incidência de COVID-19 entre dezembro de 2019 e abril de 2021, e caracterização dos casos postivos. Resultados: Entre os 268 participantes, 24 tiveram COVID-19. A idade média foi de 19 anos com uma distribuição por género equiparável. Destes, 75% (n = 18) tinham doença de Crohn, enquanto 25% (6) tinham colite ulcerosa. A maior parte dos doentes apresentavam-se em remissão clínica (n = 21) e, à data da doença COVID-19. A sua maioria, os doentes encontravam-se sob tratamento com antagonistas do fator de necrose tumoral (58%, n = 14), predominantemente o infliximab, e a generalidade dos doentes (83%) não apresentava outras comorbilidades além da DII. Relativamente à COVID-19, 17% eram assintomáticos enquanto os restantes apresentavam apenas sintomas ligeiros. Não houve relato de queixas gastrointestinais, complicações ou necessidade de hospitalização. Na maioria dos casos, não houve necessidade de interromper o tratamento da DII. Conclusão: Os nossos dados sugerem que doentes pediátricos e jovens adultos com DII apresentam um risco baixo de complicações ou hospitalização associados à COVID-19, independentemente do tratamento em curso para a DII. Este estudo apresenta resultados encorajadores e contribui para o aconselhamento adequado e fundamentado aos doentes e respetivos cuidadores, no que diz respeito às opções terapêuticas e frequência escolar dos doentes pediátricos e jovens adultos com DII.

Incidence Trends of Inflammatory Bowel Disease in a Southern European Country: A Mirror of the Western World?

INTRODUCTION: Inflammatory bowel disease (IBD) affects people from all age categories worldwide. Although the incidence of the disease is stabilizing or decreasing in most Western world countries, its prevalence is still increasing because of the rise in life expectancy and better disease management. This work intends to identify the trends related to IBD incidence nationwide, analyzing regional, sex, and age distributions. METHODS: Data were provided by the Portuguese Shared Services of the Ministry of Health. This study consisted of a retrospective analysis of all first consultations coded for "Chronic enteritis/ulcerative colitis" (D94) in a primary healthcare setting, between 2017 and 2020, in Portugal. The primary outcome measure was the IBD incidence rate per 100,000 inhabitants. We also calculated the incidence rate per person-year and forecasted incidence until 2024. RESULTS: Between 2017 and 2019, the incidence rate of IBD in Portugal decreased from 54.9 to 48.6 per 100,000 inhabitants. The average incidence was 20 new cases of IBD per 1,000 person-year. It was predicted that, in December 2023, IBD incidence would reach 305.4 new cases (95% Prediction Interval 156.6-454.3), a similar result to the values forecasted for December 2021 (305.4, 95% Prediction Interval 197.3-413.6). DISCUSSION: The incidence of IBD slightly declined from 2017 to 2019, and it is posed to stabilize in the future. The presented data are of the utmost importance for the characterization of IBD in Southern European countries and the establishment of future health policies in the setting of compounding prevalence in the Western world.

Liver dysfunction and hypoglycaemia as presentations of hypopituitarism in a child.

Not required for Clinical Vignette.

Could Commercial Formulations Replace Individualized Prescription in Pediatric Home Parenteral Nutrition?

OBJECTIVES: Standard parenteral nutrition (PN) solutions are safe and can meet the nutritional requirements of a significant number of pediatric patients. However, they may not always be adequate for those on long term PN. We aimed to compare the composition of individually tailored prescriptions in a pediatric population on home PN with that of available commercial PN formulations. METHODS: Retrospective analysis of the individual prescriptions of metabolically stable pediatric patients on home PN over a 1-year period (March 2019 to March 2020). These were compared with commercially available solutions with electrolytes, and replacement was considered adequate if three successive criteria were met: non-protein calorie to volume ratio (maximum variation 15%); non-protein calorie to nitrogen ratio (NPC:N) (maximum variation either 20% for long term use or 35% for possible short term use); electrolyte concentration (maximum increase 20%). RESULTS: Twenty-four patients were included (67% male; median age 7.5 years). The most common diagnosis was short bowel syndrome (58%). Replacement with a standard formulation was considered appropriate for possible short term use (maximum variation of 35% in NPC:N) in 16 (67%) patients and for long term use (maximum variation of 20% in NPC:N), the number of patients decreased to 10 (42%). CONCLUSIONS: Standard PN solutions can be adequate for a significant proportion of pediatric patients on home PN. Their use in the short term may also be appropriate in holiday periods or in settings of limited resources or restricted access to hospital facilities, such as those imposed by the COVID-19 pandemic.

Age at Diagnosis Is Determinant for the Outcome of Inflammatory Bowel Disease: Is It a Myth?

INTRODUCTION: Patients with elderly-onset inflammatory bowel disease were previously associated with a less aggressive course of the disease. However, there are conflicting data that need further validation. We aimed to determine the association between age at diagnosis and the development of progressive disease in patients with Crohn's disease (CD) and ulcerative colitis (UC). METHODS: This cohort study included patients with CD and UC followed in 6 secondary and tertiary care centers in mainland Portugal. Patients were divided into a derivation (80%) cohort and a validation (20%) cohort. The primary outcome was progressive disease. Logistic regression analysis, receiver operating characteristic curves, and the areas under the curve (AUC) were performed. Odds ratios with 95% confidence intervals (CIs) were estimated. RESULTS: The derivation cohorts included 1245 patients with CD (68% with progressive disease) and 1210 patients with UC (37% with progressive disease), whereas the validation cohorts included 302 patients with CD and 271 patients with UC, respectively, with similar outcome proportions. In our final model, age at diagnosis older than 60 years was significantly associated with a lower risk of developing progressive disease (odds ratio 0.390, 95% CI 0.164-0.923, P = 0.032), with a high discriminative power (AUC 0.724, 95% CI 0.693-754) in patients with CD. However, according to this model, no significant associations were found between age at diagnosis and the risk of developing progressive disease in patients with UC. No differences were observed in the AUC values between the validation and the derivation cohorts. DISCUSSION: Patients with elderly-onset CD, but not patients with UC, were associated with a less progressive course of the disease.

Diagnostic Yield of Endoscopic Procedures in Children: Experience of a Portuguese Center.

BACKGROUND: Over the last decades, the use of gastrointestinal (GI) endoscopic procedures has been increased in children worldwide, allowing the early diagnosis and therapeutic intervention in multiple GI diseases. AIMS AND METHODS: In order to evaluate the appropriateness and the diagnostic yield of initial GI endoscopic techniques in children in a Portuguese tertiary hospital, we performed a retrospective cohort study during a 12-month period. RESULTS: A total of 308 procedures were performed in 276 patients; the median age was 11 years and 50.4% were males. Esophago-gastro-duodenoscopy (EGD) corresponded to 81.8% of the procedures and ileo-colonoscopy (IC) to the remaining; 11.6% of the patients underwent both EGD and IC. Overall, 51.3% of the exams showed abnormal macroscopic findings, and 69.6% showed histopathological signs of disease, with IC showing significantly more positive results than EGD (p < 0.05). Considering the different indications independently, abnormal serology for celiac disease, suspected ingestion of foreign bodies, suspected inflammatory bowel disease, and food impaction were frequent in our population; and in the majority of the cases, the suspected diagnosis was confirmed: celiac disease, ingestion of foreign bodies, inflammatory bowel disease, and eosinophilic esophagitis, respectively. On the other hand, despite the high frequency of epigastric pain in this population, only nearly one-third of the patients showed abnormal histological findings. The final diagnosis was established in 63% of the patients, and 39.1% initiated the new treatment. DISCUSSION: Our results emphasize the importance of endoscopic procedures, especially IC, in the diagnosis of GI diseases in pediatric patients, as well as the careful choice of the endoscopic techniques in those with less specific symptoms, as chronic abdominal pain. In this particular situation, given the proportion of cases that may be due to functional disease, good characterization of the clinical context is needed, and endoscopy should be reserved for a second-line approach. CONCLUSION: It is important to monitor and examine the endoscopic techniques as an index of quality criteria for clinical practice.

INTRODUÇÃO: Ao longo das últimas décadas, a utilização dos procedimentos endoscópicos gastrointestinais (GI) nas crianças tem aumentado globalmente, permitindo o diagnóstico precoce e a intervenção terapêutica em múltiplas doenças GI. OBJETIVOS E MÉTODOS: Por forma a avaliar a adequabilidade e a rentabilidade diagnóstica na utilização de técnicas endoscópicas GI iniciais em crianças, realizamos um estudo retrospetivo de coorte durante um período de 12 meses num hospital terciário Português. RESULTADOS: Foram realizados 308 procedimentos em 276 doentes, a idade mediana foi 11 anos e 50.4% eram do sexo masculino. As esófago-gastro-duodenoscopias (EGD) corresponderam a 81.8% dos procedimentos e as ileocolonoscopias (IC) aos restantes; 11.6% dos doentes foram submetidos aos dois exames. No total, 51.3% dos exames mostraram alterações macroscópicas e 69.6% mostraram sinais histopatológicos de doença, com as IC a mostrar significativamente mais resultados positivos que as EGD (p < 0.05). Considerando as diferentes indicações independentemente, a presença de serologias positivas para doença celíaca, a suspeita de ingestão de corpos estranhos, a suspeita de doença inflamatória intestinal e a impactação alimentar foram frequentes na nossa população, e na maioria dos casos a suspeita diagnóstica foi confirmada: doença celíaca, ingestão de corpo estranho, doença inflamatória intestinal e esofagite eosinofílica, respetivamente. Por outro lado, apesar da elevada frequência de doentes com dor epigástrica a motivar o estudo endoscópico, apenas em perto de um terço dos mesmos encontrou-se alterações histológicas. O diagnóstico final foi estabelecido em 63, e 39.1% dos doentes iniciaram novo tratamento. DISCUSSÃO: Os resultados obtidos enfatizam a importância da utilização de técnicas endoscópicas, particularmente a IC, no diagnóstico de doenças GI nos doentes pediátricos, e da escolha criteriosa das mesmas nos doentes com sintomas menos específicos como dor abdominal crónica. Nesta situação particular, dada a proporção de casos que podem dever-se a doença funcional, uma boa caracterização do contexto clínico é essencial, e a endoscopia deve ser reservada para uma segunda linha de abordagem diagnóstica. CONCLUSÃO: A monitorização e a auditoria dos exames endoscópicos são importantes, como um índice de qualidade para a prática clínica.

Epstein-Barr Virus Infection and Thiopurine Therapy in a Pediatric Population with Inflammatory Bowel Disease.

Epstein Barr virus (EBV) primoinfection may contribute to the development of post-mononucleosis lymphomas in EBV-seronegative adult males with inflammatory bowel disease (IBD) under thiopurine therapy, but data on children are sparse. Knowledge of the EBV status may influence the type of surveillance and therapy in a group particularly vulnerable to the occurrence of EBV primoinfection. We aimed to determine the EBV status at diagnosis, the primoinfection rate, and complications in a pediatric Portuguese population with IBD. METHOD: This was a retrospective analysis of clinical records of pediatric patients with IBD. Demographic data, EBV status, as well as clinical and therapeutic data on primoinfection were collected. RESULTS: Of the 250 patients evaluated, 229 (91.6%) had documented EBV screening and 50.8% were male. Mean age ± SD was 13.0 ± 2.8 years at diagnosis and 14.7 ± 2.3 years at EBV screening. EBV IgG serology was positive in 76.0% of patients. A total of 218 patients had been on therapy with azathioprine at some point. The average length of exposure to azathioprine was 4 years, and 91 patients (39.7%) were on azathioprine at EBV assessment. EBV primoinfection was documented in 4 patients (1.6%), all females, 2 of whom were on azathioprine. Two presented clinical signs of infection and 2 were identified at diagnostic screening; the first 2 suspended azathioprine and the other 2 did not initiate it. CONCLUSIONS: A significant proportion of pediatric Portuguese IBD patients are EBV-naïve. Systematic screening of EBV status enables the identification of patients at risk of primoinfection, and the occurrence of symptoms suggestive of acute EBV infection in seronegative patients should lead to rapid confirmation of the diagnosis. Timely diagnosis may allow the adjustment of therapeutic strategy sparing patients from potentially severe iatrogeny.

A primoinfecção pelo virus Epstein Barr (EBV) pode contribuir para o desenvolvimento de linfomas pós-mononucleose infecciosa em homens adultos EBV-seronegativos com doença inflamatória intestinal (Dll), sob terapéutica com tiopurinas. Os dados em crianças são escassos. O conhecimento do perfil serológico do EBV pode influenciar o tipo de vigilancia e terapéutica em doentes particularmente vulneráveis á ocorréncia de primoinfecção por EBV. Os autores têm como objetivo conhecer o perfil serológico do EBV ao diagnóstico de Dll, a taxa de primoinfecção e complicações numa população pediátrica portuguesa com Dll. MÉTODO: Análise retrospectiva dos processos de doentes em idade pediátrica com Dll. Foram recolhidos dados demográficos, o perfil serológico do EBV e dados clínicos e terapéuticos aquando da primoinfecção. RESULTADOS: Dos 250 doentes avaliados, 229 (91.6%) tinham rastreio do EBV documentado, 50.8% dos quais do sexo masculino. A idade média (DP) ao diagnóstico de Dll foi de 13.0 ± 2.8 anos e no momento do rastreio do EBV de 14.7 ± 2.3 anos. A serologia para EBV foi IgG positiva em 76.0% dos doentes. 218 efetuaram terapéutica com azatioprina, com exposição média de quatro anos. 91 doentes (39.7%) estavam sob azatioprina aquando da avaliação do perfil serológico do EBV. A primoinfecção por EBV foi documentada em quatro doentes (1.6%), todos do sexo feminino, dois dos quais sob azatioprina. Dois doentes apresentaram sinais clínicos de infecção, dois foram identificados no rastreio infeccioso ao diagnóstico de Dll; os dois primeiros suspenderam a terapéutica com azatioprina, os outros dois não a iniciaram. CONCLUSÕES: Uma proporção significativa de crianças portuguesas com Dll é na'ïve para o EBV. Aavaliação sistemática do perfil serológico do EBV permite a identificação de doentes com risco de primoinfecção e a ocorréncia de sintomas sugestivos de infecção aguda pelo EBV em doentes soronegativos deve levar á rápida confirmação do diagnóstico. O diagnóstico oportuno permite o ajuste da estratégia terapêutica, evitando potencial iatrogenia grave.

Inflammatory Bowel Disease Reoperation Rate Has Decreased Over Time If Corrected by Prevalence.

INTRODUCTION: Despite the recent emergence of expensive biologic therapies, hospitalization and surgery remain important contributors for the overall costs of inflammatory bowel disease (IBD). In this study, we aimed to describe the burden of reoperations in patients with IBD by evaluating reoperation rates, charges, and risk factors over 16 years. METHODS: We performed a retrospective analysis of all hospital discharges, with focus on reoperations and with a primary diagnosis of IBD, in public hospitals between 2000 and 2015 in mainland Portugal from the Central Administration of the Health System's national registry. We collected data on patient, clinical, and healthcare charges. We used multivariate regressions to estimate the risk factors of IBD-related reoperations. RESULTS: We found that 5% of IBD-related hospitalizations were related to reoperations. The number of reoperations per year increased by approximately 200%. However, when corrected by the prevalence of the disease, IBD reoperation rates decreased. Mean IBD-related charges per hospitalization were 7,780 &OV0556; in 2000 and 10,592 &OV0556; in 2015, with total charges reaching 6.7 million euros by the end of the study. Risk factors for reoperation include urgent hospitalization, in patients with ulcerative colitis (odds ratio 1.94, 95% confidence interval 1.19-3.17, P = 0.008), and colic disease, in patients with Crohn's disease (odds ratio 1.57, 95% confidence interval 1.06-2.34, P = 0.025). DISCUSSION: To obtain an accurate scenario of reoperations among patients with IBD, it is mandatory to adjust the number of reoperations to the prevalence of the disease. Reoperation and its risk factors should be closely monitored to decrease the burden of IBD to the healthcare system.

Portuguese Consensus on Diagnosis, Treatment, and Management of Anemia in Pediatric Inflammatory Bowel Disease.

Anemia is a common extraintestinal manifestation of inflammatory bowel disease (IBD), both in pediatric and in adult patients. Iron deficiency is the main cause of anemia in patients with IBD. Anemia is a clinically relevant comorbidity, with impact on patients' quality of life and it should be timely diagnosed and adequately treated. Currently, an active treatment approach is the recommended strategy, with evidence showing efficacy and safety of intravenous iron formulations. However, evidence in pediatric age remains scarce and no clinical recommendations exist for the diagnosis and treatment of this particular age group. The present document represents the first national consensus on the management of anemia in pediatric IBD and is therefore particularly relevant. The authors anticipate that the proposed recommendations will be useful in daily clinical practice for diagnosing and managing iron deficiency and iron-deficiency anemia in the pediatric population with IBD.

A anemia é uma manifestação extra-digestiva frequente associada à doença inflamatória intestinal, tanto na população pediátrica como adulta, sendo a anemia por défice de ferro a sua forma mais frequente. Constitui uma comorbilidade clinicamente relevante, com repercussão na qualidade de vida. Deve ser atempadamente diagnosticada e adequadamente tratada. A estratégia terapêutica atualmente aceite preconiza uma atitude interventiva. Neste contexto, a evidência científica atual tem demonstrado a eficácia e segurança da utilização das formulações de ferro endovenoso. Contudo, em idade pediátrica a evidência ainda é insuficiente, não existindo orientações de abordagem diagnóstica ou terapêutica especificamente dirigidas a este grupo etário. Este é o primeiro consenso nacional sobre a abordagem da anemia na doença inflamatória intestinal pediátrica, revestindo-se por isso de particular relevância. Pretendese que este documento tenha utilidade e aplicabilidade na prática clínica na avaliação e seguimento do défice de ferro e anemia por défice de ferro em doentes pediátricos com doença inflamatória intestinal.

Perianal Disease and Granulomas: Think Out of the Box .

BACKGROUND: Chronic granulomatous disease (CGD) is a primary immunodeficiency due to a malfunction of NADPH oxidase. It is characterized by recurrent and severe infections caused by catalase-positive microorganisms and autoinflammatory manifestations. Recently, there has been described an NCF4 gene variant that causes a deficiency of p40phox, a subunit of NADPH oxidase. Patients with this deficiency appear to have a less severe clinical form as compared to classic CGD. CASE: A 15-year-old girl with vulvar lichen planus since she was 2 years old and suspected Crohn's disease (CD) was first seen at our hospital. At the age of 12 years, she had been submitted to sacrococcygeal cyst exeresis, without cicatrization of the surgical wound and extension of the lesion to the perianal area. The diagnosis of CD was questioned, and the patient underwent an endoscopic and radiologic assessment, which was normal. A skin biopsy from the perianal area revealed a granuloma; thus, CD with isolated perianal disease was assumed. After several different treatments including antibiotics, infliximab, and adalimumab, the perianal lesion persisted, with no associated gastrointestinal symptoms. Therefore, the hypothesis of an immunodeficiency was considered. An immunologic and genetic study revealed reduced oxidative burst in the phorbol myristate acetate test, with diminished reactive oxygen species production and a homozygous mutation in the NCF4 gene. The adolescent started prophylactic trimethoprim-sulfamethoxazole and became asymptomatic. CONCLUSIONS: The present case highlights that alternative diagnoses to CD must be considered in the presence of isolated perianal disease with granulomatous inflammation, especially when the disease is refractory to conventional CD therapy.

INTRODUÇÃO: A doença granulomatosa crônica (DGC) é uma imunodeficiência primária devido a uma disfunção da NADPH oxidase. É caracterizada por infeções recorrentes e graves causadas por microrganismos catalase positivos e manifestações auto-inflamatórias. Recentemente, foi identificada uma variante do gene NCF4 responsável por deficiência de p40 phox , uma proteína constituinte da NADPH oxidase e clinicamente esta doença manifesta-se como uma imunodeficiência menos grave quando comparada com a DGC clássica. CASO: Adolescente de 15 anos, com líquen planovulvardesdeos2 anos. Aos 12anos, submetida a exérese de quisto sacrococcígeo não tendo ocorrido cicatrização da ferida cirúrgica e com extensão da lesão para a região perianal. Perante a suspeita de doença Crohn (DC), realizada investigação endoscópica e radiológica que foi normal. A biópsia de pele da lesão perianal identificou granuloma, tendo sido admitido o diagnóstico de DC com apresentação perianal. Foi submetida a vários tratamentos sem resolução da lesão. Aos 15 anos, colocada a hipótese de imunodeficiência primária; o estudo imunológico mostrou diminuição da explosão oxidativa no teste de imunidade com acetato miristato de forbol, com produção reduzida de radicais livres de oxigénio (RLO). Geneticamente identificada mutação homozigótica no gene NCF4. Atualmente, sob antibiótico profilático e clinicamente assintomática. CONCLUSÃO: Este caso permite alertar para a investigação de diagnósticos alternativos à DC perante doença perianal isolada com inflamação granulomatosa, em particular quando é refratária à terapêutica dirigida.

Optimizing Antitumor Necrosis Factor Treatment in Pediatric Inflammatory Bowel Disease With Therapeutic Drug Monitoring.

Biological agents have revolutionized inflammatory bowel disease treatment but primary nonresponse and secondary loss of response are common with resulting adverse outcomes. Clinical trials demonstrated an association between serum drug concentrations, as well as the presence of antidrug antibodies, and loss-of-response. Therapeutic drug monitoring (TDM), defined as the evaluation of drug concentrations and antidrug antibodies, is appearing as a strategy to optimize treatment and take full advantage from these drugs. TDM appears to be a promising tool in clinical practice, especially in pediatric patients, who have pronounced fluctuations in the pharmacokinetics of the drugs.The authors present a literature review about antitumor necrosis factor therapy optimization based on personalized treatment strategies according to TDM and possible strategies to recapture loss of response, including an algorithm for practical management.