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2.
Medicine (Baltimore) ; 103(20): e38119, 2024 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-38758917

RESUMO

Device assisted enteroscopy (DAE) like the double balloon enteroscopy (DBE) and single balloon enteroscopy (SBE) are postulated to ease small bowel examination and performance of therapy. However, studies comparing the effectiveness of these 2 modalities have yielded varying results. The aim of this study is to compare the efficacy and safety of SBE and DBE. We retrospectively reviewed records of patients who underwent DBE (n = 82) or SBE (n = 45) for small bowel exam in our unit from January 2014 to January 2022. Our primary outcomes were to compare the technical success and diagnostic success rates between DBE and SBE. Our secondary outcomes were to compare the therapeutic success, and complication rates. The main indications were suspected GI bleeding (DBE 41.5% vs SBE 48.9%), iron deficiency anemia (DBE 9.8% vs SBE 4.4%) and small bowel lesions (DBE 28.0% vs SBE 44.4%) detected either from prior capsule endoscopy or radiological imaging. Majority of the enteroscopy exam was by antegrade approach (DBE 67.1% vs SBE 77.8%). We found no significant difference in the technical success (DBE 95.1% vs SBE 97.8%, P = .46), diagnostic success (DBE 69.5% vs SBE 77.8%, P = .36) and the therapeutic success rate (DBE 63.2% vs SBE 54.3%, P = .09) between the groups. Complications occurred in 1 case from each group (mucosal tear). None of the complications were major. In patients who underwent enteroscopy, the diagnostic and therapeutic performance of SBE is similar to DBE. Both procedures were safe with low complication rates.


Assuntos
Enteroscopia de Duplo Balão , Hemorragia Gastrointestinal , Intestino Delgado , Enteroscopia de Balão Único , Humanos , Enteroscopia de Duplo Balão/métodos , Enteroscopia de Duplo Balão/efeitos adversos , Feminino , Estudos Retrospectivos , Masculino , Pessoa de Meia-Idade , Enteroscopia de Balão Único/métodos , Intestino Delgado/diagnóstico por imagem , Adulto , Hemorragia Gastrointestinal/diagnóstico , Idoso , Enteropatias/diagnóstico , Enteropatias/diagnóstico por imagem , Anemia Ferropriva/diagnóstico
3.
Clin Res Hepatol Gastroenterol ; 48(5): 102334, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38582328

RESUMO

BACKGROUND: In order to overcome the challenges of lesion detection in capsule endoscopy (CE), we improved the YOLOv5-based deep learning algorithm and established the CE-YOLOv5 algorithm to identify small bowel lesions captured by CE. METHODS: A total of 124,678 typical abnormal images from 1,452 patients were enrolled to train the CE-YOLOv5 model. Then 298 patients with suspected small bowel lesions detected by CE were prospectively enrolled in the testing phase of the study. Small bowel images and videos from the above 298 patients were interpreted by the experts, non-experts and CE-YOLOv5, respectively. RESULTS: The sensitivity of CE-YOLOv5 in diagnosing vascular lesions, ulcerated/erosive lesions, protruding lesions, parasite, diverticulum, active bleeding and villous lesions based on CE videos was 91.9 %, 92.2 %, 91.4 %, 93.1 %, 93.3 %, 95.1 %, and 100 % respectively. Furthermore, CE-YOLOv5 achieved specificity and accuracy of more than 90 % for all lesions. Compared with experts, the CE-YOLOv5 showed comparable overall sensitivity, specificity and accuracy (all P > 0.05). Compared with non-experts, the CE-YOLOv5 showed significantly higher overall sensitivity (P < 0.0001) and overall accuracy (P < 0.0001), and a moderately higher overall specificity (P = 0.0351). Furthermore, the time for AI-reading (5.62 ± 2.81 min) was significantly shorter than that for the other two groups (both P < 0.0001). CONCLUSIONS: CE-YOLOv5 diagnosed small bowel lesions in CE videos with high sensitivity, specificity and accuracy, providing a reliable approach for automated lesion detection in real-world clinical practice.


Assuntos
Endoscopia por Cápsula , Aprendizado Profundo , Intestino Delgado , Endoscopia por Cápsula/métodos , Humanos , Intestino Delgado/diagnóstico por imagem , Intestino Delgado/patologia , Feminino , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Adulto , Enteropatias/diagnóstico por imagem , Enteropatias/diagnóstico , Idoso , Sensibilidade e Especificidade , Algoritmos
5.
Blood Adv ; 8(10): 2466-2477, 2024 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-38513134

RESUMO

ABSTRACT: Sitosterolemia is a rare autosomal recessive genetic disorder in which patients develop hypercholesterolemia and may exhibit abnormal hematologic and/or liver test results. In this disease, dysfunction of either ABCG5 or ABCG8 results in the intestinal hyperabsorption of all sterols, including cholesterol and, more specifically, plant sterols or xenosterols, as well as in the impaired ability to excrete xenosterols into the bile. It remains unknown how and why some patients develop hematologic abnormalities. Only a few unrelated patients with hematologic abnormalities at the time of diagnosis have been reported. Here, we report on 2 unrelated pedigrees who were believed to have chronic immune thrombocytopenia as their most prominent feature. Both consanguineous families showed recessive gene variants in ABCG5, which were associated with the disease by in silico protein structure analysis and clinical segregation. Hepatosplenomegaly was absent. Thrombopoietin levels and megakaryocyte numbers in the bone marrow were normal. Metabolic analysis confirmed the presence of strongly elevated plasma levels of xenosterols. Potential platelet proteomic aberrations were longitudinally assessed following dietary restrictions combined with administration of the sterol absorption inhibitor ezetimibe. No significant effects on platelet protein content before and after the onset of treatment were demonstrated. Although we cannot exclude that lipotoxicity has a direct and platelet-specific impact in patients with sitosterolemia, our data suggest that thrombocytopenia is neither caused by a lack of megakaryocytes nor driven by proteomic aberrations in the platelets themselves.


Assuntos
Membro 5 da Subfamília G de Transportadores de Cassetes de Ligação de ATP , Plaquetas , Hipercolesterolemia , Enteropatias , Erros Inatos do Metabolismo Lipídico , Fitosteróis , Proteômica , Trombocitopenia , Humanos , Erros Inatos do Metabolismo Lipídico/diagnóstico , Erros Inatos do Metabolismo Lipídico/genética , Erros Inatos do Metabolismo Lipídico/sangue , Erros Inatos do Metabolismo Lipídico/complicações , Hipercolesterolemia/sangue , Hipercolesterolemia/genética , Hipercolesterolemia/complicações , Fitosteróis/efeitos adversos , Fitosteróis/sangue , Plaquetas/metabolismo , Plaquetas/patologia , Membro 5 da Subfamília G de Transportadores de Cassetes de Ligação de ATP/genética , Enteropatias/sangue , Enteropatias/diagnóstico , Enteropatias/genética , Enteropatias/etiologia , Enteropatias/metabolismo , Masculino , Trombocitopenia/diagnóstico , Trombocitopenia/sangue , Trombocitopenia/etiologia , Trombocitopenia/metabolismo , Feminino , Proteômica/métodos , Linhagem , Membro 8 da Subfamília G de Transportadores de Cassetes de Ligação de ATP/genética , Adulto , Proteoma , Adolescente , Lipoproteínas
6.
Zhonghua Xue Ye Xue Za Zhi ; 45(1): 90-93, 2024 Jan 14.
Artigo em Chinês | MEDLINE | ID: mdl-38527845

RESUMO

This article focuses on a case study of sitosterolemia in a child who initially presented with hemolytic anemia and thrombocytopenia. Sitosterolemia is a rare autosomal recessive lipid metabolism disorder, difficult to diagnose due to its non-typical clinical manifestations. The 8-year-old patient was initially misdiagnosed with pyruvate kinase deficiency. Comprehensive biochemical and molecular biology analyses, including gene sequencing, eventually led to the correct diagnosis of sitosterolemia. This case highlights the complexity and diagnostic challenges of sitosterolemia, emphasizing the need for increased awareness and accurate diagnosis in patients presenting with similar symptoms.


Assuntos
Anemia Hemolítica , Hipercolesterolemia , Enteropatias , Erros Inatos do Metabolismo Lipídico , Fitosteróis , Fitosteróis/efeitos adversos , Trombocitopenia , Criança , Humanos , Hipercolesterolemia/diagnóstico , Hipercolesterolemia/genética , Fitosteróis/genética , Anemia Hemolítica/diagnóstico , Enteropatias/diagnóstico , Enteropatias/genética , Trombocitopenia/diagnóstico
7.
Spectrochim Acta A Mol Biomol Spectrosc ; 312: 124081, 2024 May 05.
Artigo em Inglês | MEDLINE | ID: mdl-38422936

RESUMO

Intestinal Disease (ID) is often characterized by clinical symptoms such as malabsorption, intestinal dysfunction, and injury. If treatment is not timely, it will increase the risk of cancer. Early diagnosis of ID is the key to cure it. There are certain limitations of the conventional diagnostic methods, such as low sensitivity and specificity. Therefore, development of a highly sensitive, non-invasive diagnostic method for ID is extremely important. Urine samples are easier to collect and more sensitive to changes in biomolecules than other pathological diagnostic samples such as tissue and blood. In this paper, a diagnostic method of ID with urine by surface-enhanced Raman spectroscopy (SERS) is proposed. A classification model between ID patients and healthy controls (HC) and a classification model between different pathological types of ID (i.e., benign intestinal disease (BID) and colorectal cancer (CRC)) are established. Here, 830 urine samples, including 100 HC, 443 BID, and 287 CRC, were investigated by SERS. The ID/HC classification model was developed by analyzing the SERS spectra of 150 ID and 100 HC, while BID/CRC classification model was built with 300 BID and 150 CRC patients by principal component analysis (PCA)-support vector machines (SVM). The two established models were internally verified by leave-one-out-cross-validation (LOOCV). Finally, the BID/CRC classification model was further evaluated by 143 BID and 137 CRC patients as an external test set. It shows that the accuracy of the classification model validated by the LOOCV for ID/HC and BID/CRC is 86.4% and 85.56%, respectively. And the accuracy of the BID/CRC classification model with external test set is 82.14%. It shows that high accuracy can be achieved with these two established classification models. It indicates that ID patients in the general population can be identified and BID and CRC patients can be further classified with measuring urine by SERS. It shows that the proposed diagnostic method and established classification models provide valuable information for clinicians to early diagnose ID patients and analyze different stages of ID.


Assuntos
Enteropatias , Análise Espectral Raman , Humanos , Análise Espectral Raman/métodos , Sensibilidade e Especificidade , Enteropatias/diagnóstico , Análise de Componente Principal
8.
Endoscopy ; 56(3): 174-181, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37949103

RESUMO

BACKGROUND: Device-assisted enteroscopy (DAE) has become a well-established diagnostic and therapeutic tool for the management of small-bowel pathology. We aimed to evaluate the performance measures for DAE across the UK against the quality benchmarks proposed by the European Society of Gastrointestinal Endoscopy (ESGE). METHODS: We retrospectively collected data on patient demographics and DAE performance measures from electronic endoscopy records of consecutive patients who underwent DAE for diagnostic and therapeutic purposes across 12 enteroscopy centers in the UK between January 2017 and December 2022. RESULTS: A total of 2005 DAE procedures were performed in 1663 patients (median age 60 years; 53% men). Almost all procedures (98.1%) were performed for appropriate indications. Double-balloon enteroscopy was used for most procedures (82.0%), followed by single-balloon enteroscopy (17.2%) and spiral enteroscopy (0.7%). The estimated depth of insertion was documented in 73.4% of procedures. The overall diagnostic yield was 70.0%. Therapeutic interventions were performed in 42.6% of procedures, with a success rate of 96.6%. Overall, 78.0% of detected lesions were marked with a tattoo. Patient comfort was significantly better with the use of deep sedation compared with conscious sedation (99.7% vs. 68.5%; P<0.001). Major adverse events occurred in only 0.6% of procedures. CONCLUSIONS: Performance measures for DAE in the UK meet the ESGE quality benchmarks, with high diagnostic and therapeutic yields, and a low incidence of major adverse events. However, there is room for improvement in optimizing sedation practices, standardizing the depth of insertion documentation, and adopting marking techniques to aid in the follow-up of detected lesions.


Assuntos
Enteropatias , Masculino , Humanos , Pessoa de Meia-Idade , Feminino , Enteropatias/diagnóstico , Enteropatias/terapia , Estudos Retrospectivos , Melhoria de Qualidade , Endoscopia Gastrointestinal/métodos , Intestino Delgado/diagnóstico por imagem , Intestino Delgado/patologia , Enteroscopia de Duplo Balão/métodos
9.
J Clin Gastroenterol ; 58(4): 349-359, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-37279281

RESUMO

BACKGROUND AND AIM: Motorized spiral enteroscopy (MSE) has recently been introduced for small bowel evaluation. In this systematic review and meta-analysis, we aim to evaluate the safety and efficacy of MSE for evaluation of small bowel diseases. METHODS: A literature search was performed in Embase, PubMed, Medline databases for studies evaluating MSE between January -2010 and October-2022. The primary outcome of the study was diagnostic yield with MSE. Secondary outcomes included technical success, procedure duration, depth of maximum insertion (DMI), rate of pan-enteroscopy and adverse events. RESULTS: 10 studies with 961 patients [581 (60.5%) males] were included in the analysis. 1068 MSE procedures were performed by antegrade route in 698, retrograde route in 215 and bidirectional in 155 patients. Technical success was achieved in 94.9% (95% CI 92.9% to 96.4%) procedures. The pooled diagnostic yield of MSE was 73.7% (95% CI 70.7% to 76.4%). Pooled rate of pan-enteroscopy by antegrade route was 21.9% (95% CI 18.1% to 26.1%), retrograde route was 6.9% (95% CI 2.4% to 18.3%) and combined route was 61.2% (95% CI 52.4% to 69.3%). Pooled rate of major adverse events was 1.9% (95% CI 1.2% to 3.2%). CONCLUSIONS: MSE is a safe and effective tool for evaluating small bowel disorders. High diagnostic yield and low rate of adverse events make it a potential alternative to balloon enteroscopy. However, comparative trials are required in the future.


Assuntos
Enteropatias , Laparoscopia , Masculino , Humanos , Feminino , Enteropatias/diagnóstico , Enteropatias/etiologia , Endoscopia Gastrointestinal/efeitos adversos , Endoscopia Gastrointestinal/métodos , Intestino Delgado , Enteroscopia de Duplo Balão/efeitos adversos
10.
J Allergy Clin Immunol ; 153(3): 595-605, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38040040

RESUMO

In the past 2 decades, a significant number of studies have been published describing the molecular and clinical aspects of immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome. These studies have refined our knowledge of this rare yet prototypic genetic autoimmune disease, advancing the diagnosis, broadening the clinical spectrum, and improving our understanding of the underlying immunologic mechanisms. Despite these advances, Forkhead box P3 mutations have devastating consequences, and treating patients with IPEX syndrome remains a challenge, even with safer strategies for hematopoietic stem cell transplantation and gene therapy becoming a promising reality. The aim of this review was to highlight novel features of the disease to further advance awareness and improve the diagnosis and treatment of patients with IPEX syndrome.


Assuntos
Diabetes Mellitus Tipo 1/congênito , Doenças Genéticas Ligadas ao Cromossomo X , Doenças do Sistema Imunitário , Doenças do Sistema Imunitário/congênito , Enteropatias , Poliendocrinopatias Autoimunes , Humanos , Linfócitos T Reguladores , Diarreia , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Doenças Genéticas Ligadas ao Cromossomo X/terapia , Enteropatias/diagnóstico , Enteropatias/genética , Doenças do Sistema Imunitário/diagnóstico , Doenças do Sistema Imunitário/genética , Doenças do Sistema Imunitário/terapia , Mutação , Fatores de Transcrição Forkhead/genética , Poliendocrinopatias Autoimunes/diagnóstico , Poliendocrinopatias Autoimunes/genética , Poliendocrinopatias Autoimunes/terapia
11.
Indian J Pediatr ; 91(6): 598-605, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38105403

RESUMO

Congenital diarrhea and enteropathies (CODEs) constitute a group of rare genetic disorders characterized by severe diarrhea and malabsorption in the neonatal period or early infancy. Timely diagnosis and treatment is essential to prevent life-threatening complications, including dehydration, electrolyte imbalance, and malnutrition. This review offers a simplified approach to the diagnosis of CODEs, with a specific focus on microvillus inclusion disease (MVID), congenital tufting enteropathy (CTE), congenital chloride diarrhea (CLD), and congenital sodium diarrhea (CSD). Patients with CODEs typically present with severe watery or occasionally bloody diarrhea, steatorrhea, dehydration, poor growth, and developmental delay. Therefore, it is crucial to thoroughly evaluate infants with diarrhea to rule out infectious, allergic, or anatomical causes before considering CODEs as the underlying etiology. Diagnostic investigations for CODEs encompass various modalities, including stool tests, blood tests, immunological studies, endoscopy and biopsies for histology and electron microscopy, and next-generation sequencing (NGS). NGS plays a pivotal role in identifying the genetic mutations responsible for CODEs. Treatment options for CODEs are limited, often relying on total parenteral nutrition for hydration and nutritional support. In severe cases, intestinal transplantation may be considered. The long-term prognosis varies among specific CODEs, with some patients experiencing ongoing intestinal failure and associated complications. In conclusion, the early recognition and accurate diagnosis of CODEs are of paramount importance for implementing appropriate management strategies. Further research and advancements in genetic testing hold promise for enhancing diagnostic accuracy and exploring potential targeted therapies for these rare genetic disorders.


Assuntos
Diarreia , Síndromes de Malabsorção , Humanos , Diarreia/terapia , Diarreia/etiologia , Diarreia/congênito , Síndromes de Malabsorção/terapia , Síndromes de Malabsorção/diagnóstico , Síndromes de Malabsorção/genética , Recém-Nascido , Lactente , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/terapia , Erros Inatos do Metabolismo/genética , Mucolipidoses/diagnóstico , Mucolipidoses/terapia , Mucolipidoses/genética , Microvilosidades/patologia , Enteropatias/diagnóstico , Enteropatias/terapia , Enteropatias/genética , Anormalidades Múltiplas , Diarreia Infantil
12.
J Gastroenterol Hepatol ; 39(3): 519-526, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38149352

RESUMO

BACKGROUND AND AIM: Although age at disease onset is considered to be a significant factor in the prognosis of Crohn's disease, little is known about its influence on the long-term prognosis of those with intestinal Behçet's disease (BD). This study aimed to evaluate the long-term clinical outcomes of patients with intestinal BD according to age of disease onset. METHODS: Patients diagnosed with intestinal BD at < 18, 18-60, and > 60 years of age were classified into early-onset, adult-onset, and late-onset groups, respectively. The influence of disease onset time on clinical prognosis, including specific medical requirements, BD-related intestinal surgery, hospitalization, and emergency room visits, was compared using the log-rank test in a large cohort of patients with intestinal BD. RESULTS: Among 780 patients, 21 (2.7%), 672 (86.2%), and 87 (11.1%) comprised the early-onset, adult-onset, and late-onset groups, respectively. Patients in the early-onset group were more likely to require immunosuppressants than those in the adult-onset group (P = 0.048). Nine (42.9%), 158 (23.5%), and 18 (20.7%) patients in the early-onset, adult-onset, and late-onset groups, respectively, underwent intestinal resection. The early-onset group exhibited a higher risk for intestinal resection than the late-onset (P = 0.043) and adult-onset (P = 0.030) groups. The late-onset group exhibited a higher risk for BD-related hospitalization than the adult-onset group (P = 0.023). CONCLUSIONS: Age at diagnosis affected the clinical course of intestinal BD, including intestinal surgery, hospitalization, and specific medical requirements. Different treatment strategies should be established according to age at diagnosis.


Assuntos
Síndrome de Behçet , Enteropatias , Adulto , Humanos , Síndrome de Behçet/complicações , Síndrome de Behçet/diagnóstico , Síndrome de Behçet/terapia , Prognóstico , Imunossupressores/uso terapêutico , Intestinos , Enteropatias/diagnóstico , Enteropatias/etiologia , Enteropatias/terapia
13.
BMC Womens Health ; 23(1): 661, 2023 12 09.
Artigo em Inglês | MEDLINE | ID: mdl-38071298

RESUMO

BACKGROUND: Recent evidence suggests that measures of maternal gut enteropathy are associated with unfavorable fetal outcomes. It is, therefore, crucial to identify and treat the features of intestinal enteropathy among reproductive-age women living in areas where enteropathy is highly prevalent. However, there is a lack of non-invasive diagnostic tests to determine EED, making it difficult to identify the disease in field settings. In this study, we tested the potential of fecal pH as a biomarker of gut enteropathy and investigated its relationship with fecal biomarkers of intestinal enteropathy in reproductive-age women living in resource-limited environments. METHODS: Data on socio-demographic information, anthropometry, and biological samples were collected from 78 apparently healthy women aged between 20 and 27 years from November 2018 to December 2019. The association of stool pH with two fecal biomarkers of gut enteropathy (i.e., intestinal alkaline phosphatase [IAP] and fecal lipocalin-2 [LCN-2] was investigated using multiple linear regression models after adjusting for relevant covariates. RESULTS: In the adjusted models, alkaline stool pH (pH > 7.2) was found to be significantly associated with a decrease in the fecal IAP level by 1.05 unit (95% CI: -1.68, -0.42; p < 0.001) in the log scale, and acidic stool pH (pH < 6) was found to be significantly associated with an increase in the fecal LCN-2 level by 0.89 units (95% CI: 0.12, 1.67; p < 0.025) in the log scale. CONCLUSIONS: The study findings demonstrated an association of fecal pH with biomarkers of gut enteropathy indicating its applicability as a simple tool for understanding intestinal enteropathy among reproductive-age women living in resource-limited settings.


Assuntos
Enteropatias , Áreas de Pobreza , Humanos , Feminino , Adulto Jovem , Adulto , Bangladesh , Enteropatias/diagnóstico , Biomarcadores , Concentração de Íons de Hidrogênio
14.
BMC Pediatr ; 23(1): 601, 2023 11 28.
Artigo em Inglês | MEDLINE | ID: mdl-38017413

RESUMO

BACKGROUND: Autoimmune enteropathy (AIE) defined by intractable diarrhoea and nonceliac enteropathy with villous atrophy, is a rare digestive disease. Case reports of this disease are sporadic and the clinical characteristics of AIE is seldom discussed. PURPOSE: We evaluate the clinical, laboratory, histopathological features, response to therapy and outcome of AIE in children. METHOD: We conducted a retrospective analysis of five children with AIE in our hospital. A comprehensive search of MEDLINE was performed using PubMed, through keywords of "autoimmune enteropathy, pediatric or children". The clinical manifestations, endoscopic results, pathological results, and medication therapy of these children were collected and the cases were divided into two groups, infants (≤ 1 year old) and children (> 1 year old). RESULTS: Five cases treated in our department: one case took eight years to make the final diagnosis; one case was positive for anti-intestinal epithelial cell (AE) antibody; three cases showed crypt apoptosis in histopathology; and two cases showed celiac-like changes. All cases were responsive to glucocorticoid therapy in the early stage of treatment, while three cases required immunosuppressant maintenance. After reviewing the literature, we performed a statistical analysis of 50 cases with a male-to-female ratio of 31:19. Among them, 35 patients (70%) were within 1 year of age, and their clinical manifestations were mainly watery stool (43 cases, 86%), weight loss (28 cases, 56%), abdominal distension (3 cases, 6%), serum AE or anti-goblet cell (AG) antibody positivity (32 cases, 64%), other immune-related antibodies (21 cases, 42%), gene mutations (9 cases, 18%), and family history (21 cases, 42%). All the children showed different degrees of intestinal villous atrophy. Thirty-seven (74%) of the children were treated early, and their clinical symptoms were relieved. Comparing the cases between different age groups, it was found that the mortality rate of children with onset in infancy was higher (P < 0.05), and there was no difference in other autoimmune diseases, AE antibody positivity rates, and other antibodies between the two groups. In addition to survival rate between different age group (P = 0. 005), there was no difference in sex, autoantibody positivity rate, single gene mutation, or family history between the two groups (P > 0.05) through analysis of mortality and clinical remission cases. CONCLUSION: Endoscopic examination and mucosal pathological examination should be performed to diagnose AIE in children with watery stool and weight loss who fail to be treated with diet therapy. Immunotherapy is the core of medical management of AIE and can improve prognosis. Children with a poor prognosis in infancy should be actively treated to reduce mortality rates associated with AIE.


Assuntos
Enteropatias , Poliendocrinopatias Autoimunes , Lactente , Humanos , Criança , Masculino , Feminino , Estudos Retrospectivos , Poliendocrinopatias Autoimunes/diagnóstico , Enteropatias/diagnóstico , Enteropatias/terapia , Diarreia/etiologia , Atrofia/complicações , Redução de Peso
15.
J Med Case Rep ; 17(1): 439, 2023 Oct 06.
Artigo em Inglês | MEDLINE | ID: mdl-37798676

RESUMO

BACKGROUND: Behçet's disease (BD) is a chronic systemic disease characterized by vasculitis as the basic pathological change. BD is rare, and gastrointestinal involvement occurs in 3% to 25% of affected patients. This article describes a rare case of intestinal BD along with a literature review of intestinal involvement in BD. CASE PRESENTATION: A 50-year-old Han woman from China presented with a > 6-month history of distending pain in the right upper abdomen. Because of mechanical obstruction secondary to stricture formation from an ileocecal ulcer, she underwent radical right colon resection, and postoperative pathologic examination indicated an ileocecal ulcer. The patient was readmitted to the hospital 6 months postoperatively for recurrence of the same symptoms. Colonoscopy indicated obvious narrowing of the anastomosis with an oval-shaped deep ulcer that could not be passed by the endoscope. Pathologic examination showed acute and chronic inflammation of the anastomotic mucosa and granulation tissue. In addition, gastroscopy showed a 3.0- × 4.0-cm giant ulcer at the junction of the descending bulb along with a sinus tract. Moreover, total gastrointestinal computed tomography angiography showed significant thickening of the intestinal wall near the transverse colon, forming a sinus tract at the junction of the antrum and duodenum with a length of about 1.3 cm and width of about 0.2 cm. Further inquiry regarding the patient's medical history revealed that she had developed repeated oral ulcers 3 years previously and repeated eye inflammation 5 years previously. Specimens of the right half of the colon removed 6 months previously were sent to Run Run Shaw Hospital Affiliated to Zhejiang University for consultation. The pathologic examination revealed vasculitis in the submucosa and subserosa, and the patient was finally diagnosed with BD. She began treatment with adalimumab, and repeat gastroenteroscopy revealed that the intestinal ulcer had significantly improved. CONCLUSIONS: An oval-shaped deep intestinal ulcer is a characteristic lesion in patients with BD and may involve the intestinal muscle layer. This case emphasizes that BD is a vasculitis affecting multiple organs and can present with a single, deep, clean-edged intestinal ulcer that penetrates the bowel wall to form a sinus tract. Therefore, careful examination and differential diagnosis should be carried out to prevent a poor prognosis. Adalimumab is effective for patients with intestinal BD.


Assuntos
Síndrome de Behçet , Enteropatias , Vasculite , Feminino , Humanos , Pessoa de Meia-Idade , Síndrome de Behçet/complicações , Síndrome de Behçet/diagnóstico , Úlcera/etiologia , Úlcera/cirurgia , Adalimumab , Enteropatias/diagnóstico , Enteropatias/etiologia , Enteropatias/cirurgia , Inflamação/complicações
16.
Korean J Intern Med ; 38(5): 661-671, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37491721

RESUMO

BACKGROUND/AIMS: The short- and long-term effects of adalimumab (ADA) on Korean patients with intestinal Behcet's disease (BD) for remain unclear. Therefore, a multicenter study was performed to evaluate the efficacy and safety of ADA in Korean patients with intestinal BD in a real-world setting. METHODS: The medical records of 67 patients with BD prescribed ADA between January 2012 and December 2020 at five referral centers in Korea were retrospectively analyzed and the safety and efficacy of ADA within 52 weeks were assessed. To evaluate the clinical efficacy of ADA, the Disease Activity Index for Intestinal BD (DAIBD) and representative blood biochemical markers were compared at 0, 12, 24, and 52 weeks of ADA treatment. RESULTS: During the follow-up period of 52 weeks, 46 patients continued ADA treatment. The cumulative drug survival rate was 83.5%. The DAIBD score decreased over the study period (p < 0.001). Moreover, the erythrocyte sedimentation rate, serum C-reactive protein levels, and serum albumin levels significantly improved at 12, 24, and 52 weeks of ADA treatment (all, p <0.05). CONCLUSION: As ADA is effective for refractory intestinal BD with few safety concerns in real-world situations, it is a potential treatment option for Korean patients with intestinal BD.


Assuntos
Síndrome de Behçet , Enteropatias , Humanos , Adalimumab/efeitos adversos , Síndrome de Behçet/diagnóstico , Síndrome de Behçet/tratamento farmacológico , Estudos Retrospectivos , Enteropatias/diagnóstico , Enteropatias/tratamento farmacológico , Resultado do Tratamento , República da Coreia
17.
Medicine (Baltimore) ; 102(25): e34118, 2023 Jun 23.
Artigo em Inglês | MEDLINE | ID: mdl-37352037

RESUMO

RATIONALE: Tocilizumab, a humanized anti-interleukin-6 (IL-6) receptor monoclonal antibody, is used for the treatment of adult-onset Still disease (AOSD). Despite its efficacy in many clinical situations, concerns have been raised regarding intestinal mucosal injury in patients receiving tocilizumab. PATIENT CONCERNS: A 64-year-old woman with a history of AOSD was admitted to our hospital with hematochezia. She had AOSD for 15 years and underwent treatment with biweekly tocilizumab 9 months prior to admission. Colonoscopy revealed a large punched-out ulcer in the terminal ileum. On pathological evaluation, nonspecific enteritis with lymphocytes and eosinophils were seen. Based on the location and shape of the lesion, we suspected intestinal Behçet's disease. However, the ulcer reduced in size over time by discontinuation of tocilizumab without additional drug treatment, indicating that it was a drug-induced ulcer. DIAGNOSIS: The patient was diagnosed with tocilizumab-induced small intestinal ulcer. INTERVENTIONS: The patient treated with the discontinuation of tocilizumab. OUTCOMES: The discontinuation of tocilizumab resulted in ulcer scarring. There was no recurrence of hematochezia. LESSONS: Tocilizumab can cause deep ulcerative lesions in the terminal ileum, which may resemble intestinal Behçet's disease. It is important to continuously monitor abdominal symptoms during tocilizumab therapy and aggressively perform colonoscopy when hematochezia or abdominal pain is observed.


Assuntos
Síndrome de Behçet , Enteropatias , Adulto , Feminino , Humanos , Pessoa de Meia-Idade , Síndrome de Behçet/tratamento farmacológico , Úlcera/induzido quimicamente , Úlcera/diagnóstico , Úlcera/tratamento farmacológico , Enteropatias/induzido quimicamente , Enteropatias/diagnóstico , Enteropatias/tratamento farmacológico , Anticorpos Monoclonais/uso terapêutico , Íleo/patologia , Hemorragia Gastrointestinal/tratamento farmacológico
18.
Surg Endosc ; 37(9): 6998-7011, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37349592

RESUMO

BACKGROUND: Motorized spiral enteroscopy (MSE) is a novel advance in small bowel examination that is characterized as fast with a deep insertion. The aim of this study was to elucidate the effectiveness and safety of MSE. METHODS: Relevant articles that were published before November 1, 2022 were identified by searching PubMed, EMBASE, Cochrane, and the Web of Science. The technical success rate (TSR), total (pan)-enteroscopy rate (TER), depth of maximum insertion (DMI), diagnostic yield, and adverse events were extracted and analyzed. Forest plots were graphed based on random effects models. RESULTS: A total of 876 patients from 8 studies were eligible for analysis. The pooled results of the TSR were 95.0% [95% confidence interval (CI) 91.0-98.0%, I2 = 78%, p < 0.01] and the pooled outcome of the TER was 43.1% (95% CI 24.7-62.5%, I2 = 95%, p < 0.01). The pooled results of the diagnostic and therapeutic yields were 77.2% (95% CI 69.0-84.5%, I2 = 84%, p < 0.01) and 49.0% (95% CI 38.0-60.1%, I2 = 89%, p < 0.01), respectively. The pooled estimates of adverse and severe adverse events were 17.2% (95% CI 11.9-23.2%, I2 = 75%, p < 0.01) and 0.7% (95% CI 0.0-2.1%, I2 = 37%, p = 0.13), respectively. CONCLUSION: MSE is a novel alternative approach for small bowel examination that can achieve high TER and diagnostic and therapeutic yields, and relatively low rates of severe adverse events. Head-to-head studies comparing MSE and other device-assisted enteroscopies are warranted.


Assuntos
Enteropatias , Laparoscopia , Humanos , Enteropatias/diagnóstico , Enteropatias/terapia , Endoscopia Gastrointestinal/efeitos adversos , Endoscopia Gastrointestinal/métodos , Intestino Delgado/diagnóstico por imagem , Enteroscopia de Duplo Balão/métodos
19.
Gut ; 72(10): 1866-1874, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37197904

RESUMO

OBJECTIVE: Recent studies have shown that motorised spiral enteroscopy (MSE) enables deeper and total small bowel evaluation compared with single-balloon enteroscopy (SBE) in suspected Crohn's disease (CD) when analysed per procedure. However, no randomised controlled study has compared bidirectional MSE with bidirectional SBE in suspected CD. DESIGN: Patients with suspected CD requiring small bowel enteroscopy were randomly assigned to either SBE or MSE between May 2022 and September 2022 in a high volume tertiary centre. Bidirectional enteroscopy was done if intended lesion could not be reached on unidirectional study. Comparison was made with regard to technical success (ability to reach lesion), diagnostic yield, depth of maximal insertion (DMI), procedure time and total enteroscopy rates. Depth:time ratio was calculated to avoid confounding for the location of lesion. RESULTS: Among 125 suspected patients with CD (28% female, 18-65 years, median 41 years), 62 and 63 underwent MSE and SBE, respectively. The overall technical success (98.4 %: MSE, 90.5 %: SBE; p=0.11), diagnostic yield (95.2%: MSE; 87.3%: SBE, p=0.2) and procedure time were not significantly different. However, MSE appeared to have higher technical success (96.8% vs 80.7%, p=0.08) in deeper small bowel (distal jejunum/proximal ileum) with higher DMI, higher depth:time ratio and total enteroscopy rates when attempted (77.8% vs 11.1%, p=0.0007). Both the modalities were safe although minor adverse events were more common with MSE. CONCLUSION: MSE and SBE have comparable technical success and diagnostic yield for small bowel evaluation in suspected CD. MSE scores over SBE with regard to deeper small bowel evaluation with complete small bowel coverage and higher depth of insertion in a shorter time. TRIAL REGISTRATION NUMBER: NCT05363930.


Assuntos
Doença de Crohn , Enteropatias , Enteroscopia de Balão Único , Humanos , Feminino , Masculino , Doença de Crohn/patologia , Endoscopia Gastrointestinal/métodos , Intestino Delgado/patologia , Íleo/patologia , Enteroscopia de Duplo Balão/efeitos adversos , Enteropatias/diagnóstico
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