Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive DNA repair disorder that increases risk of hematological malignancy. Primary gastric malignancies are exceedingly rare in pediatric ...patients and not typically high on the differential of abdominal pain.
A 14-year-old male with NBS presented with persistent abdominal pain and was diagnosed with primary Hodgkin disease of the stomach.
In pediatric patients with predisposition to malignancies, such as those with underlying chromosome instability disorders, all symptoms must be carefully considered.
Evidence about specific carbohydrate diet (SCD) for inflammatory bowel disease (IBD) is limited. We conducted 54 single-subject, double-crossover N-of-1 trials comparing SCD with a modified SCD ...(MSCD) and comparing each with the participant's baseline, usual diet (UD).
Across 19 sites, we recruited patients aged 7-18 years with IBD and active inflammation. Following a 2-week baseline (UD), patients were randomized to 1 of 2 sequences of 4 alternating 8-week SCD and MSCD periods. Outcomes included fecal calprotectin and patient-reported symptoms. We report posterior probabilities from Bayesian models comparing diets.
Twenty-one (39%) participants completed the trial, 9 (17%) completed a single crossover, and 24 (44%) withdrew. Withdrawal or early completion occurred commonly (lack of response n = 11, adverse events n = 11, and not desiring to continue n = 6). SCD and MSCD performed similarly for most individuals. On average, there was <1% probability of a clinically meaningful difference in IBD symptoms between SCD and MSCD. The average treatment difference was -0.3 (95% credible interval -1.2, 0.75). There was no significant difference in the ratio of fecal calprotectin geometric means comparing SCD and MSCD (0.77, 95% credible interval 0.51, 1.10). Some individuals had improvement in symptoms and fecal calprotectin compared with their UD, whereas others did not.
SCD and MSCD did not consistently improve symptoms or inflammation, although some individuals may have benefited. However, there are inherent difficulties in examining dietary changes that complicate study design and ultimately conclusions regarding effectiveness.
Extrahepatic biliary atresia (EHBA), an inflammatory sclerosing cholangiopathy, is the leading indication for liver transplantation in children. The cause is still unknown, although possible ...infectious, genetic, and immunologic etiologies have received much recent focus. These theories are often dependent on each other for secondary or coexisting mechanisms. Concern for EHBA is raised by a cholestatic infant, but the differential diagnosis is large and the path to diagnosis remains varied. Current treatment is surgical with an overall survival rate of approximately 90%. The goals of this article are to review the important clinical aspects of EHBA and to highlight some of the more recent scientific and clinical developments contributing to our understanding of this condition.
Drug-related hepatotoxicity and acute liver failure Murray, Karen F; Hadzic, Nedim; Wirth, Stefan ...
Journal of pediatric gastroenterology and nutrition,
2008-October, Letnik:
47, Številka:
4
Journal Article
Recenzirano
Odprti dostop
Drug-induced acute liver failure (ALF) accounts for approximately 20% of ALF in children and a higher percentage of ALF in adults. Although most patients experience milder drug hepatotoxic reactions ...such as hepatitis, cholestasis, or asymptomatic enzyme elevation, it is important to recognize the potential for progression to ALF. The most common cause of drug-induced ALF in children is acetaminophen (15% of all ALF in children in the United Kingdom and the United States), whereas other drugs such as antituberculous and antiepileptic therapy account for 5%. The pathogenesis of liver injury includes direct hepatotoxicity and idiosyncratic reactions for most drugs, although for others the mechanism of injury is assumed on the basis of clinical presentation and hepatic histological findings. We review the adult and pediatric literature of drug-induced hepatotoxicity and ALF, with special attention to commonly used or offending medications, mechanism of the toxicity, clinical presentation, diagnosis, treatment, and prognosis. Although most of the available information is based on experience in adult patients, we have included that which is applicable to children, or we have cited pediatric examples. Enhanced awareness of the potential hepatotoxicity of commonly prescribed medications may minimize the frequency of serious hepatotoxicity and ALF in pediatric patients.
Intramuscular lipomas and atypical lipomatous tumors (ALT) are common deep-seated lipomatous tumors of the chest wall and extremities. Distinguishing between these two entities can be difficult based ...on histologic analysis alone. However, the cytogenetic profiles of ALT and intramuscular lipomas are distinct. Correct classification is important, because aggressive local disease recurrence occurs more frequently in patients with ALT than in patients with intramuscular lipoma. The authors examined their single institutional experience and correlated their classification with clinical features and outcome.
In the current study, 106 patients with deep-seated, well differentiated adipose tumors of the chest wall and extremities were classified as having ALT or intramuscular lipoma using a combined approach of histology and cytogenetics, if available. The classification was correlated with clinicopathologic features and follow-up data.
Fifty-five patients were classified as having intramuscular lipoma and 51 were classified as having ALT. Classification did not correlate with age and gender (P = 0.28 and P = 0.96, respectively). Intramuscular lipomas were smaller than ALTs (P < 0.0001), but there was significant overlap between the 2 groups. ALT occurred preferentially in the lower extremity (P < 0.0009). Four percent of patients with intramuscular lipomas and 27% of patients with ALTs developed local disease recurrence (P = 0.0006). Disease recurrence did not correlate with patient age at diagnosis, patient gender, tumor size, and tumor location (P = 0.45, P = 0.26, P = 0.49, and P = 0.28, respectively). Within the subset of patients with ALTs, disease recurrence did not correlate with patient age at diagnosis, patient gender, or tumor location (P = 0.38, P = 0.54, and P = 0.86, respectively).
Classification of deep-seated, well differentiated lipomatous tumors of the extremities and chest wall using a combined approach of histology and cytogenetics correlated well with biologic behavior/disease recurrence. This combined approach is advocated to better stratify patients for treatment purposes and follow-up.
Cephalosporins are frequently used to treat pediatric infections and are overall well tolerated. Cefepime, a fourth-generation cephalosporin, has an excellent safety profile in pediatrics. We report ...a rare case of cefepime-induced acute liver injury in a pediatric patient, which resolved after antibiotic discontinuation.
To implement a quality improvement based system to measure and improve data quality in an observational clinical registry to support a Learning Healthcare System.
ImproveCareNow Network registry, ...which as of September 2019 contained data from 314,250 visits of 43,305 pediatric Inflammatory Bowel Disease (IBD) patients at 109 participating care centers.
The impact of data quality improvement support to care centers was evaluated using statistical process control methodology. Data quality measures were defined, performance feedback of those measures using statistical process control charts was implemented, and reports that identified data items not following data quality checks were developed to enable centers to monitor and improve the quality of their data.
There was a pattern of improvement across measures of data quality. The proportion of visits with complete critical data increased from 72 percent to 82 percent. The percent of registered patients improved from 59 percent to 83 percent. Of three additional measures of data consistency and timeliness, one improved performance from 42 percent to 63 percent. Performance declined on one measure due to changes in network documentation practices and maturation. There was variation among care centers in data quality.
A quality improvement based approach to data quality monitoring and improvement is feasible and effective.
Abstract
Introduction
It is intuitive to expect youth with IBD will have higher rates of depression and anxiety than their otherwise healthy peers, and most research bears this notion. However, ...existing literature of emotional distress has not consistently addressed the differentiation between general depression and anxiety and normative emotional experiences of IBD. Assessment measures often used for youth with IBD align with the DSM criteria; based on symptoms, without considering etiology or context (e.g., chronic disease). The IBD Distress Scale (IDS) was designed to identify distress/worry in response to extraordinary circumstances of having IBD.
Methods
The IDS is a 27-item measure of distress related to IBD symptoms, treatment, and disease burden. The youth self-report was completed by 108 patients ages 12–19, and 101 parents. The IDS measure was administered with general measures of depression (Patient Health Questionnaire, PHQ8) and anxiety (General Anxiety Disorder, GAD7) to youth with IBD attending their routine gastroenterology appointment. Item responses were classified as “not a problem,” “moderate problem,” or “serious problem.” For some analyses, “not a problem” and “moderate problem” were collapsed. Correlations and frequencies were conducted to compare youth and parent responses.
Results
Results identified top “serious problems” rated by youth and parents, separately. The highest rated problem for youth was worries about not being able to eat what others are eating, with 18% reporting this as a serious problem. The second most highly rated “serious problem” by youth was fear of not having bathroom access (15%). For parents, the highest rated “serious problem” was fear of surgery (24%). Parents also rated worrying about next flare, and feeling there’s no way to avoid a flare, as “serious problems,” both with 16% frequency. Pearson correlations for the top problems identified as “serious” by youth and parents revealed significant agreement for socially-oriented worries; e.g., anxiety about patient not being able to eat what others are eating (r=.33).
Conclusion
The CCF states IBD treatment goals are five-fold: achieve remission; control inflammation; maintain remission; prevent and manage complications; maximize quality of life. Based on research with other diseases, integrating the IDS into current IBD treatment protocols is a logical step for identifying target areas for treatment. Thematically, results revealed youth and parents worry about future-oriented (e.g., worrying about next flare) and socially-oriented issues (e.g., possibility of not having access to a bathroom). The identified themes enlighten current treatment and provide guidance for improved interventions. Future directions should include development and implementation of appropriate interventions specific to the identified serious problems for IBD distress.
Abstract
Background
Children with inflammatory bowel disease IBD are disproportionally affected by recurrent Clostridioides difficile infection rCDI. Although faecal microbiota transplantation FMT ...has been used with good efficacy in adults with IBD, little is known about outcomes associated with FMT in paediatric IBD.
Methods
We performed a retrospective review of FMT at 20 paediatric centres in the USA from March 2012 to March 2020. Children with and without IBD were compared with determined differences in the efficacy of FMT for rCDI. In addition, children with IBD with and without a successful outcome were compared with determined predictors of success. Safety data and IBD-specific outcomes were obtained.
Results
A total of 396 paediatric patients, including 148 with IBD, were included. Children with IBD were no less likely to have a successful first FMT then the non-IBD affected cohort 76% vs 81%, p = 0.17. Among children with IBD, patients were more likely to have a successful FMT if they received FMT with fresh stool p = 0.03, were without diarrhoea prior to FMT p = 0.03, or had a shorter time from rCDI diagnosis until FMT p = 0.04. Children with a failed FMT were more likely to have clinically active IBD post-FMT p = 0.002 and 19 13% patients had an IBD-related hospitalisation in the 3-month follow-up.
Conclusions
Based on the findings from this large US multicentre cohort, the efficacy of FMT for the treatment of rCDI did not differ in children with IBD. Failed FMT among children with IBD was possibly related to the presence of clinically active IBD.
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