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1.
BMC Gastroenterol ; 15: 129, 2015 Oct 13.
Artigo em Inglês | MEDLINE | ID: mdl-26463759

RESUMO

BACKGROUND: Early manifestations of pediatric inflammatory bowel disease (IBD) can be relatively nonspecific. Initial mucosal biopsies may not be conclusive, delaying the diagnosis until subsequent biopsies demonstrate typical histologic features of IBD. We hypothesized that certain inflammatory cell types may be utilized as early histologic indicators of IBD in children. METHODS: A retrospective analysis compared histologic findings from initially inconclusive or negative endoscopic studies in 22 patients who were subsequently diagnosed with IBD (after diagnostic endoscopy) to those of 20 comparison patients with functional abdominal pain matched for age, gender, and study type. A pediatric pathologist, blinded to study group, reviewed biopsies for histologic abnormalities. Eosinophil densities were obtained from the stomach, duodenum, and rectosigmoid areas. Immunohistochemistry (IHC) staining for tumor necrosis factor-α (TNF-α) and matrix metalloproteinase-9 (MMP-9) was performed on the stomach and rectosigmoid areas. RESULTS: Gastritis and colonic crypt distortion were present in the IBD group at a greater rate (61 % vs. 22 %, p = 0.020; 34 % vs. 4 %, p = 0.008, respectively). Peak and mean eosinophil densities in the rectosigmoid area were greater in the IBD group (17.0/hpf vs. 5.0/hpf, p = 0.0063; 12.3/hpf vs. 4.2/hpf, p = 0.0106, respectively). TNF-α and MMP-9 staining did not reveal any significant differences. CONCLUSIONS: Our data suggests that significantly greater inflammation in the stomach, crypt distortion in the colon, and eosinophilia in the rectosigmoid distinguished the IBD group from the comparison group at the time of the initial endoscopic evaluation.


Assuntos
Doenças Inflamatórias Intestinais/patologia , Intestinos/patologia , Metaloproteinase 9 da Matriz/análise , Fator de Necrose Tumoral alfa/análise , Adolescente , Biomarcadores/análise , Biópsia , Criança , Pré-Escolar , Endoscopia Gastrointestinal/estatística & dados numéricos , Eosinófilos/patologia , Feminino , Gastrite/complicações , Gastrite/patologia , Humanos , Imuno-Histoquímica , Lactente , Recém-Nascido , Doenças Inflamatórias Intestinais/diagnóstico , Doenças Inflamatórias Intestinais/metabolismo , Intestinos/química , Masculino , Estudos Retrospectivos , Estômago/química , Estômago/patologia
2.
Eur J Pediatr ; 173(12): 1561-4, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23900521

RESUMO

UNLABELLED: Celiac crisis is a life-threatening presentation of celiac disease which is described in the context of classic gastrointestinal (GI) symptoms of diarrhea, leading to dehydration and electrolyte imbalance. Neurologic manifestations are atypical symptoms of celiac crisis. To the best of our knowledge, there is no published report on seizure or encephalopathy as the presenting manifestation of celiac crisis. We describe a 2-year-old boy presenting with acute status epilepticus and lethargy. Prior to presentation, he had mild abdominal distention and intermittent diarrhea. Laboratory analysis revealed hyponatremia, anemia, hypocalcemia, transaminitis, and hyperglycemia. Electroencephalography revealed severe diffuse encephalopathy, and complete infectious work-up was negative. Initial brain magnetic resonance imaging was normal; however, repeat imaging showed osmotic demyelination syndrome. Given the history of GI symptoms and hyperglycemia, celiac serology was obtained revealing elevated tissue transglutaminase, and a diagnosis was confirmed by Marsh 3c lesions in the duodenum. He significantly improved with steroid therapy in addition to adequate nutrition, fluids, and initiation of a gluten-free diet. CONCLUSION: We report herein on the first case of celiac crisis presenting with status epilepticus and encephalopathy in the absence of profound GI symptoms. Our case suggests that celiac crisis should be considered in the differential of seizures and encephalopathy in children.


Assuntos
Encefalopatias/etiologia , Doença Celíaca/diagnóstico , Doenças Desmielinizantes/etiologia , Estado Epiléptico/etiologia , Encefalopatias/diagnóstico , Doença Celíaca/complicações , Pré-Escolar , Doenças Desmielinizantes/diagnóstico , Diarreia/etiologia , Humanos , Letargia/etiologia , Imageamento por Ressonância Magnética , Masculino , Estado Epiléptico/diagnóstico
3.
Genomics ; 102(5-6): 442-7, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24001973

RESUMO

Pediatric-onset inflammatory bowel disease (IBD) is known to be associated with severe disease, poor response to therapy, and increased morbidity and mortality. We conducted exome sequencing of two brothers from a non-consanguineous relationship who presented before the age of one with severe infantile-onset IBD, failure to thrive, skin rash, and perirectal abscesses refractory to medical management. We examined the variants discovered in all known IBD-associated and primary immunodeficiency genes in both siblings. The siblings were identified to harbor compound heterozygous mutations in IL10RA (c.784C>T, p.Arg262Cys; c.349C>T, p.Arg117Cys). Upon molecular diagnosis, the proband underwent successful hematopoietic stem cell transplantation and demonstrated marked clinical improvement of all IBD-associated clinical symptoms. Exome sequencing can be an effective tool to aid in the molecular diagnosis of pediatric-onset IBD. We provide additional evidence of the safety and benefit of HSCT for patients with IBD due to mutations in the IL10RA gene.


Assuntos
Testes Genéticos , Doenças Inflamatórias Intestinais/diagnóstico , Doenças Inflamatórias Intestinais/genética , Subunidade alfa de Receptor de Interleucina-10/genética , Criança , Exoma , Variação Genética , Transplante de Células-Tronco Hematopoéticas , Humanos , Lactente , Doenças Inflamatórias Intestinais/terapia , Masculino , Técnicas de Diagnóstico Molecular , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA , Resultado do Tratamento
4.
JPGN Rep ; 5(3): 276-283, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39149181

RESUMO

Objectives: While guidelines exist for the diagnosis and management of pediatric celiac disease (CeD), current practices in North America are not well-described. This study aimed to explore current practice patterns to identify gaps and direct future clinical, training and research initiatives. Methods: A 23-item survey designed by the Celiac Disease Special Interest Group was distributed electronically to its members. Questions explored four themes: (1) screening and diagnosis pre and post the coronavirus disease (COVID)-19 pandemic, (2) treatment and monitoring, (3) family screening and transition of care, and (4) CeD focused training. Results: The survey response rate was 10.8% (278/2552). Most respondents were from the United States (89.9%, n = 250) and Canada (8.6%, n = 24). While endoscopy remained the gold standard, serology-based diagnosis was accepted by 47.5% (132/278). In response to the COVID-19 pandemic, 37.4% of providers changed their diagnostic practice. Barriers to care included: lack of insurance coverage for dietitians, wait times, and lack of CeD focused training. During fellowship 69.1% (192/278) reported no focused CeD training. Conclusion: Survey results revealed practice variation regarding the diagnosis and management of CeD in North America including a substantial proportion accepting non-biopsy, serology-based diagnosis, which increased during the COVID-19 pandemic. Variations in screening, diagnosis, interval surveillance, and family screening were also identified. Dedicated CeD education in pediatric gastroenterology fellowship may be an opportunity for standardizing practice and advancing research. Future North American guidelines should take current care patterns into consideration and develop new initiatives to improve care of children with CeD.

5.
Nutr Clin Pract ; 38 Suppl 2: S28-S38, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37721462

RESUMO

Critical illness increases the risk of malnutrition in both infants and children. Malnutrition risk is multifactorial and includes premorbid factors as well as changes in nutrient metabolism and energy demands during critical illness. Inadequate nutrition has been linked to poor health outcomes and prolonged length of stay in the intensive care unit, demonstrating the importance of both recognizing and addressing malnutrition in this population. Assessing growth and identifying malnutrition requires methodical measurement of growth and a collaborative, multimodal approach to nutrition assessment. Among the nutrition assessment and growth evaluation tools, neonatal, preterm, pediatric, and disease-specific growth charts remain an important component of growth assessment and should be used along with a nutrition-focused physical examination. Routine measurement promotes the identification of potential growth delays that may require interventions. Indirect calorimetry adds an additional layer of detail for a complete picture of each infant or child's unique nutrition status and progress. Quality improvement research on a national level is urgently needed to assess the adequacy and availability of resources in neonatal and pediatric critical care units and to further the development of standard clinical outcome measures for nutrition assessment and intervention in the critically ill neonate and child.


Assuntos
Estado Terminal , Desnutrição , Lactente , Recém-Nascido , Humanos , Criança , Estado Terminal/terapia , Estado Nutricional , Desnutrição/diagnóstico , Avaliação Nutricional , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/etiologia , Unidades de Terapia Intensiva Pediátrica
6.
Pharmaceuticals (Basel) ; 16(3)2023 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-36986472

RESUMO

BACKGROUND: Crohn's disease with upper gastrointestinal tract involvement occurs more often in children than adults and has the potential to interfere with oral drug absorption. We aimed to compare disease outcomes in children receiving oral azathioprine for the treatment of Crohn's disease with (DP) and without (NDP) duodenal pathology at diagnosis. METHODS: Duodenal villous length, body mass index (BMI), and laboratory studies were compared in DP vs. NDP during the first year post-diagnosis, using parametric/nonparametric tests and regression analysis (SAS v9.4); the data are reported as the median (interquartile range) or the mean ± standard deviation. Thiopurine metabolite concentration (pmol/8 × 108 erythrocytes) 230-400 was considered therapeutic for 6-thioguanine nucleotides (6-TGN), and >5700 was considered hepatotoxic for 6-methylmercaptopurine (6-MMPN). RESULTS: Twenty-six of the fifty-eight children enrolled (29 DP, 29 NDP) started azathioprine for standard medical care, including nine DP and ten NDP who had normal thiopurine methyltransferase activity. Duodenal villous length was significantly shorter in DP vs. NDP (342 ± 153 vs. 460 ± 85 µm; p < 0.001) at diagnosis; age, sex, hemoglobin, and BMI were comparable between groups. A trend toward lower 6-TGN was observed in the DP vs. NDP subset receiving azathioprine (164 (117, 271) vs. 272 (187, 331); p = 0.15). Compared to NDP, DP received significantly higher azathioprine doses (2.5 (2.3, 2.6) vs. 2.2 (2.0, 2.2) mg/kg/day; p = 0.01) and had an increased relative risk of sub-therapeutic 6-TGN. At 9 months post-diagnosis, children with DP had significantly lower hemoglobin (12.5 (11.7, 12.6) vs. 13.1 (12.7, 13.3) g/dL; p = 0.01) and BMI z-scores (-0.29 (-0.93, -0.11) vs. 0.88 (0.53, 0.99); p = 0.02) than children with NDP. CONCLUSION: For children with Crohn's disease, duodenal pathology, marked by villous blunting, increased the risk of sub-therapeutic 6-TGN levels, despite higher azathioprine dosing during the first year post-diagnosis. Lower hemoglobin and BMI z-scores at 9 months post-diagnosis suggest the impaired absorption/bioavailability of nutrients, as well as oral drugs, in children with duodenal disease.

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