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1.
Turk J Gastroenterol ; 35(5): 360-365, 2024 May.
Article in English | MEDLINE | ID: mdl-39128101

ABSTRACT

BACKGROUND/AIMS:  We aimed to compare the effectiveness of the polyethylene glycol (PEG) and sennoside A+B regimens after clear fluid diet and fasting in bowel preperation of capsule endoscopy. MATERIALS AND METHODS:  In this retrospective single-center study, patients who were consecutively examined with small bowel capsule endoscopy (SBCE) between May 2010 and March 2023 were evaluated. Patients who underwent PEG 4 L and sennoside A+B calcium 250 mL for small bowel preparation were assigned. The quality of the small bowel cleaning and the diagnostic yield in detecting of small bowel lesions were compared. RESULTS:  Two hundred forty-two patients who underwent SBCE for various indications (PEG 74.4%, sennoside A+B 25.6%) were included in the study. The mean proximal small bowel cleaning scores was 1.97 ± 0.77 for PEG and 1.98 ± 0.04 (P = .83) for sennoside A+B; the mid small bowel cleaning scores was 1.76 ± 0.84 for PEG and 1.59 ± 0.05 (P = .108) for sennoside A+B; the mean distal small bowel cleaning scores was 1.27 ± 0.08 for PEG and 1.3 ± 0.54 (P = .805) for sennoside A+B; and the total small bowel cleaning scores was 1.66 ± 0.06 and 1.62 ± 0.04 (P = .622) for PEG and sennoside A+B, respectively. There were no significant differences regarding small bowel cleaning scores both segmentally and totally. At the same time, the diagnostic value of SBCE was similar in both groups. CONCLUSION:  The effectiveness of sennoside A+B in SBCE preparation is similar to that of PEG and can be used in intestinal cleansing.


Subject(s)
Capsule Endoscopy , Cathartics , Intestine, Small , Polyethylene Glycols , Senna Extract , Sennosides , Humans , Polyethylene Glycols/administration & dosage , Male , Female , Retrospective Studies , Capsule Endoscopy/methods , Middle Aged , Intestine, Small/diagnostic imaging , Cathartics/administration & dosage , Aged , Adult , Fasting , Intestinal Diseases/diagnosis
2.
Sci Rep ; 14(1): 19387, 2024 08 20.
Article in English | MEDLINE | ID: mdl-39169196

ABSTRACT

Dogs diagnosed with chronic enteropathy (CE) or small-cell lymphoma (SCL) exhibit marked differences in faecal microbiota and organic acid profiles compared with healthy dogs, as well as immune abnormalities in intestinal mucosal tissue. However, few studies have analysed trace organic acids, such as succinic acid, which have been suggested to be associated with IBD in humans. Therefore, in this study, we compared the faecal microbiota and organic acid profiles as well as serum inflammatory markers between dogs with disease (n = 11; 6 with CE and 5 with SCL) and healthy controls (n = 16). We also performed machine learning and correlation analysis to obtain more detailed insights into the characteristics of affected dogs. These results revealed that dogs with CE and SCL had lower levels of Erysipelotrichaceae (e.g. Turicibacter and Allobaculum), exhibited abnormalities in the succinic acid metabolism (i.e. succinic acid accumulation and decreased levels of Phascolarctobacterium as succinic acid-utilising bacteria) and increased levels of pathobiont bacteria such as Escherichia-Shigella. Additionally, the presence of Dubosiella was significantly negatively correlated with Canine Inflammatory Bowel Disease Activity Index scores. These findings are expected to aid the development of microbiome-based medications and/or supplements, although further verification is needed.


Subject(s)
Dog Diseases , Feces , Gastrointestinal Microbiome , Dogs , Animals , Pilot Projects , Feces/microbiology , Dog Diseases/microbiology , Dog Diseases/blood , Dog Diseases/diagnosis , Male , Female , Biomarkers/blood , Intestinal Diseases/veterinary , Intestinal Diseases/microbiology , Intestinal Diseases/blood , Intestinal Diseases/diagnosis , Chronic Disease , Inflammatory Bowel Diseases/blood , Inflammatory Bowel Diseases/veterinary , Inflammatory Bowel Diseases/microbiology , Case-Control Studies
3.
J Dig Dis ; 25(6): 353-360, 2024 Jun.
Article in English | MEDLINE | ID: mdl-39014971

ABSTRACT

OBJECTIVES: Single-balloon enteroscopy (SBE) is an effective tool for the detection of small intestine lesions. Because it is conventionally performed by two operators, the efficacy of single-operator SBE method has not yet been elucidated. We aimed to evaluate the diagnostic yield, total enteroscopy rate, procedure time, and complications of single-operator SBE for small intestinal disease. METHODS: This was a single-center, retrospective study including consecutive patients who underwent single-operator SBE for suspicious small intestinal disorders or required therapeutic interventions between December 2014 and January 2019. The SBE procedures were performed by four endoscopists. Diagnostic yield, total enteroscopy rate, procedure time, incubation depth, and complications were analyzed, and stratification analysis was performed. RESULTS: Altogether 922 patients with 1422 SBE procedures were included for analysis, among whom 250, 172, and 500 patients underwent SBE via the oral route, the anal route and a combined route, respectively. The overall diagnostic yield was 78.52% (724/922). And 253 patients achieved total enteroscopy, with a total enteroscopy rate of 56.10%. The average procedure time for the oral and anal routes were 69.28 ± 14.72 min and 64.95 ± 13.87 min, respectively. While the incubation depth was 389.95 ± 131.42 cm and 191.81 ± 83.67 cm, respectively. Jejunal perforation was observed in one patient, which was managed by endoclips. Stratification analysis showed that the diagnostic yield and total enteroscopy rate significantly increased with operation experience together with decreased procedure time. CONCLUSION: Single-operator SBE is effective and safe for the detection of small intestinal lesions, and is easy to master.


Subject(s)
Intestinal Diseases , Intestine, Small , Single-Balloon Enteroscopy , Humans , Retrospective Studies , Male , Female , Single-Balloon Enteroscopy/methods , Middle Aged , Adult , Intestine, Small/diagnostic imaging , Intestine, Small/surgery , Intestinal Diseases/diagnosis , Intestinal Diseases/diagnostic imaging , Aged
4.
Int J Biol Macromol ; 276(Pt 2): 133956, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39029830

ABSTRACT

Intestinal dysfunction is becoming increasingly associated with neurological and endocrine issues, raising concerns about its impact on world health. With the introduction of several breakthrough technologies for detecting and treating intestinal illnesses, significant progress has been made in the previous few years. On the other hand, traditional intrusive diagnostic techniques are expensive and time-consuming. Furthermore, the efficacy of conventional drugs (not capsules) is reduced since they are more likely to degrade before reaching their target. In this context, microcapsules based on different types of biological macromolecules have been used to encapsulate active drugs and sensors to track intestinal ailments and address these issues. Several biomacromolecules/biomaterials (natural protein, alginate, chitosan, cellulose and RNA etc.) are widely used for make microcapsules for intestinal diseases, and can significantly improve the therapeutic effect and reduce adverse reactions. This article systematically summarizes microencapsulated based on biomacromolecules material for intestinal health control and efficacy enhancement. It also discusses the application and mechanism research of microencapsulated biomacromolecules drugs in reducing intestinal inflammation, in addition to covering the preparation techniques of microencapsulated drug delivery systems used for intestinal health. Microcapsule delivery systems' limits and potential applications for intestinal disease diagnosis, treatment, and surveillance were highlighted.


Subject(s)
Capsules , Humans , Animals , Drug Delivery Systems , Macromolecular Substances/chemistry , Alginates/chemistry , Intestines , Drug Compounding/methods , Chitosan/chemistry , Intestinal Diseases/therapy , Intestinal Diseases/diagnosis
5.
Clin Chim Acta ; 562: 119886, 2024 Aug 15.
Article in English | MEDLINE | ID: mdl-39053727

ABSTRACT

BACKGROUND: Sitosterolemia is a rare inherited lipid metabolic disorder characterized by increased levels of plant sterols and accelerated atherosclerosis. Although early detection is beneficial for the prevention of disease progression, it is largely underdiagnosed by routine screening based on conventional lipid profiles. MATERIALS AND METHODS: A gas chromatography-mass spectrometry (GC-MS)-based profiling has been developed and validated to measure the levels of biologically active free sterols, including five endogenous sterols and three plant sterols (sitosterol, campesterol, and stigmasterol) in dried blood spot (DBS). RESULTS: Within- and between-run precisions were 1.4-11.1 % and 2.2-14.1 %, respectively, while the accuracies were all 86.3 âˆ¼ 121.9 % with the correlation coefficients (r2) > 0.988 for all the sterols. In the patients (four girls and two boys, 6.5 ± 2.8 years), sitosterol levels were significantly increased, with an optimal cut-off value of 2.5 µg/mL distinguishing them from ninety-three age-matched healthy children. A cut-off value of 31.9 µg/mL differentiated the patients from six ABCG5/ABCG8 heterozygous carriers. In addition, the molecular ratios of sitosterol to cholesterol, desmosterol, and 7-dehydrocholesterol provided excellent cut-off values of 26.3, 67.6, and 21.6, respectively, to distinguish patients from both healthy controls and heterozygous carriers. CONCLUSIONS: The novel DBS-based GC-MS profiling of free sterols accurately identified patients with sitosterolemia, with a performance comparable to that of a serum assay. The DBS profiling could be more feasible method in clinical practice as well as population screening programs, and it can provide diagnostic cut-off values for individual plant sterols.


Subject(s)
Dried Blood Spot Testing , Gas Chromatography-Mass Spectrometry , Hypercholesterolemia , Intestinal Diseases , Lipid Metabolism, Inborn Errors , Phytosterols , Humans , Lipid Metabolism, Inborn Errors/blood , Lipid Metabolism, Inborn Errors/diagnosis , Female , Male , Intestinal Diseases/blood , Intestinal Diseases/diagnosis , Child , Phytosterols/blood , Phytosterols/adverse effects , Dried Blood Spot Testing/methods , Hypercholesterolemia/blood , Hypercholesterolemia/diagnosis , Child, Preschool , ATP Binding Cassette Transporter, Subfamily G, Member 5/blood , ATP Binding Cassette Transporter, Subfamily G, Member 5/genetics , Sterols/blood , ATP Binding Cassette Transporter, Subfamily G, Member 8/blood , ATP Binding Cassette Transporter, Subfamily G, Member 8/genetics , Lipoproteins/blood
6.
BMC Pediatr ; 24(1): 396, 2024 Jun 18.
Article in English | MEDLINE | ID: mdl-38890589

ABSTRACT

BACKGROUND:  Chronic enteropathy associated with SLCO2A1 gene (CEAS) is a unique type of inflammatory bowel disease. CEAS is monogenic disease and is thought to develop from childhood, but studies on pediatric CEAS are scarce. We analyzed characteristics of pediatric CEAS. METHODS: Eleven patients diagnosed with CEAS at Seoul National University Children's Hospital were identified and analyzed. Clinical data of patients were collected. Sanger sequencing of SLCO2A1 was performed on all patients. RESULTS: Patients were diagnosed at a median age of 16.0 years (IQR 11.0 ~ 20.0), and the median age at symptoms onset was only 4.0 years (IQR 2.5 ~ 6.0). Growth delay was observed at the time of diagnosis. Patients showed multiple ulcers or strictures in the small intestine, while the esophagus and colon were unaffected in any patients. Almost half of the patients underwent small intestine resection. The major laboratory features of pediatric CEAS include iron deficiency anemia (IDA), hypoalbuminemia, and near-normal levels of C-reactive protein (CRP). Two novel mutations of SLCO2A1 were identified. The most prevalent symptoms were abdominal pain and pale face. None of the immunomodulatory drugs showed a significant effect on CEAS. CONCLUSIONS: Pediatric CEAS typically develop from very young age, suggesting it as one type of monogenic very early onset inflammatory bowel disease. CEAS can cause growth delay in children but there is no effective treatment currently. We recommend screening for SLCO2A1 mutations to pediatric patients with chronic IDA from a young age and small intestine ulcers without elevation of CRP levels.


Subject(s)
Inflammatory Bowel Diseases , Organic Anion Transporters , Humans , Male , Female , Adolescent , Child , Organic Anion Transporters/genetics , Inflammatory Bowel Diseases/genetics , Young Adult , Mutation , Chronic Disease , Child, Preschool , Intestine, Small/pathology , Age of Onset , Intestinal Diseases/genetics , Intestinal Diseases/diagnosis
8.
Medicine (Baltimore) ; 103(20): e38119, 2024 May 17.
Article in English | MEDLINE | ID: mdl-38758917

ABSTRACT

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.


Subject(s)
Double-Balloon Enteroscopy , Gastrointestinal Hemorrhage , Intestine, Small , Single-Balloon Enteroscopy , Humans , Double-Balloon Enteroscopy/methods , Double-Balloon Enteroscopy/adverse effects , Female , Retrospective Studies , Male , Middle Aged , Single-Balloon Enteroscopy/methods , Intestine, Small/diagnostic imaging , Adult , Gastrointestinal Hemorrhage/diagnosis , Aged , Intestinal Diseases/diagnosis , Intestinal Diseases/diagnostic imaging , Anemia, Iron-Deficiency/diagnosis
9.
Curr Opin Gastroenterol ; 40(5): 338-341, 2024 Sep 01.
Article in English | MEDLINE | ID: mdl-38662476

ABSTRACT

PURPOSE OF REVIEW: We aim to review the types of device-assisted deep enteroscopy endoscopes, tips for a successful procedure as well as areas for improvement. RECENT FINDINGS: Deep enteroscopy allows for diagnostic and therapeutic intervention of the small bowel and can be used as an adjunct to video capsule endoscopy to improve the yield and management of small bowel lesions. SUMMARY: Our top tips for deep enteroscopy success include reviewing patient history and prior imaging, utilizing CO 2 insufflation or water exchange, verifying quality measures and emphasizing ergonomics. With these, endoscopists can optimize patient outcomes while minimizing occupational risks. New aspects of deep enteroscopy equipment focus on high-resolution imaging, a larger working channel, and enhanced scope angulation. Proposed improvements include developing innovative technology to optimize the color and clarity of the high-resolution imaging, minimizing the number of staff required for the procedure, and decreasing ergonomic strain.


Subject(s)
Intestine, Small , Humans , Intestine, Small/diagnostic imaging , Intestinal Diseases/diagnostic imaging , Intestinal Diseases/diagnosis , Endoscopy, Gastrointestinal/methods , Equipment Design , Capsule Endoscopy/methods , Endoscopes, Gastrointestinal , Ergonomics/methods
10.
Intern Med J ; 54(8): 1369-1375, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38567663

ABSTRACT

BACKGROUND: Small bowel capsule endoscopy (SBCE) and device-assisted enteroscopy (DAE) have an established role in the investigation and management of small bowel pathology. Previous studies have reported on the yield of SBCE (60%) and DAE (57%), but none have been in an Australian setting. AIMS: To determine the yield of SBCE and any DAE performed as a direct consequence of SBCE in an Australian referral centre. METHODS: A single-centre retrospective study was conducted at a tertiary hospital in Australia, enrolling consecutive patients between 1 January 2009 and 31 December 2021 undergoing SBCE. Data were collected with respect to demographics, procedural factors and findings, as well as findings and interventions of any DAE procedures performed after the SBCE. RESULTS: 1214 SBCEs were performed, with a median age of 66 years old (60.8% men). The predominant indications were anaemia (n = 853, 70.2%) and overt gastrointestinal bleeding (n = 320, 26.4%). Of the complete small bowel studies (1132/1214, 93.2%), abnormal findings were detected in 588 cases (51.9%), most commonly angioectasias (266/588, 45.2%), erosions (106/588, 18.0%) and ulcers (97/588, 8.6%). 165 patients underwent a DAE (117 antegrade, 48 retrograde). Antegrade DAE had a higher yield than retrograde DAE (77.8% vs 54.2%; P = 0.002) and a higher rate of intervention (69.2% vs 37.5%; P < 0.001). CONCLUSION: In this largest single-centre cohort of patients undergoing SBCE to date, there is a similar yield of abnormal findings compared to existing literature. DAE, especially with an antegrade approach, had high diagnostic and therapeutic yield when pursued after a positive SBCE study.


Subject(s)
Capsule Endoscopy , Gastrointestinal Hemorrhage , Intestine, Small , Tertiary Care Centers , Humans , Male , Female , Retrospective Studies , Capsule Endoscopy/methods , Aged , Middle Aged , Australia , Intestine, Small/diagnostic imaging , Aged, 80 and over , Adult , Intestinal Diseases/diagnosis , Intestinal Diseases/diagnostic imaging , Young Adult
11.
Clin Res Hepatol Gastroenterol ; 48(5): 102334, 2024 May.
Article in English | MEDLINE | ID: mdl-38582328

ABSTRACT

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.


Subject(s)
Capsule Endoscopy , Deep Learning , Intestine, Small , Capsule Endoscopy/methods , Humans , Intestine, Small/diagnostic imaging , Intestine, Small/pathology , Female , Male , Middle Aged , Prospective Studies , Adult , Intestinal Diseases/diagnostic imaging , Intestinal Diseases/diagnosis , Aged , Sensitivity and Specificity , Algorithms
13.
Clin Investig Arterioscler ; 36(4): 229-233, 2024.
Article in English, Spanish | MEDLINE | ID: mdl-38443216

ABSTRACT

Sitosterolemia is an autosomal recessive and very rare disease. Its main characteristic is that there is a greater absorption and a decrease in the excretion of sterols, which leads to them being deposited in tissues. It is given by mutations in the ABCG5 or ABCG8 genes found on chromosome 2p21. In this clinical note, we describe the first two patients with familial sitosterolemia described in Colombia, brothers, one of them with xanthomas in extremities as the only symptom, and the other, completely asymptomatic. Genetic studies were performed as a diagnostic test in both patients, where a pathogenic homozygous variant could be identified in the ABCG8 gene in the first case (symptomatic), and a heterozygous variant in the ABCG8 gene in the second case (asymptomatic); the first patient has responded to treatment with ezetimibe. In conclusion, xanthomas should be studied in depth in pediatric age as they may be the only visible sign of such complex and hereditary diseases as familial sitosterolemia, which can be controlled and prevent cardiovascular complications of the disease.


Subject(s)
ATP Binding Cassette Transporter, Subfamily G, Member 8 , Ezetimibe , Hypercholesterolemia , Intestinal Diseases , Lipid Metabolism, Inborn Errors , Phytosterols , Humans , Lipid Metabolism, Inborn Errors/genetics , Lipid Metabolism, Inborn Errors/diagnosis , Male , Colombia , Phytosterols/adverse effects , Phytosterols/genetics , Intestinal Diseases/genetics , Intestinal Diseases/diagnosis , ATP Binding Cassette Transporter, Subfamily G, Member 8/genetics , Hypercholesterolemia/genetics , Hypercholesterolemia/drug therapy , Hypercholesterolemia/diagnosis , Ezetimibe/therapeutic use , Xanthomatosis/genetics , Xanthomatosis/pathology , Xanthomatosis/diagnosis , Anticholesteremic Agents/therapeutic use , Anticholesteremic Agents/administration & dosage , Mutation , ATP Binding Cassette Transporter, Subfamily G, Member 5/genetics , Homozygote , Child , Heterozygote , Lipoproteins/genetics
14.
Blood Adv ; 8(10): 2466-2477, 2024 May 28.
Article in English | MEDLINE | ID: mdl-38513134

ABSTRACT

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.


Subject(s)
ATP Binding Cassette Transporter, Subfamily G, Member 5 , Blood Platelets , Hypercholesterolemia , Intestinal Diseases , Lipid Metabolism, Inborn Errors , Phytosterols , Proteomics , Thrombocytopenia , Humans , ATP Binding Cassette Transporter, Subfamily G, Member 5/genetics , ATP Binding Cassette Transporter, Subfamily G, Member 8/genetics , Blood Platelets/metabolism , Blood Platelets/pathology , Hypercholesterolemia/blood , Hypercholesterolemia/genetics , Hypercholesterolemia/complications , Intestinal Diseases/blood , Intestinal Diseases/diagnosis , Intestinal Diseases/genetics , Intestinal Diseases/etiology , Intestinal Diseases/metabolism , Lipid Metabolism, Inborn Errors/diagnosis , Lipid Metabolism, Inborn Errors/genetics , Lipid Metabolism, Inborn Errors/blood , Lipid Metabolism, Inborn Errors/complications , Lipoproteins , Pedigree , Phytosterols/adverse effects , Phytosterols/blood , Proteome , Proteomics/methods , Thrombocytopenia/diagnosis , Thrombocytopenia/blood , Thrombocytopenia/etiology , Thrombocytopenia/metabolism
15.
Zhonghua Xue Ye Xue Za Zhi ; 45(1): 90-93, 2024 Jan 14.
Article in Chinese | MEDLINE | ID: mdl-38527845

ABSTRACT

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.


Subject(s)
Anemia, Hemolytic , Hypercholesterolemia , Intestinal Diseases , Lipid Metabolism, Inborn Errors , Phytosterols , Phytosterols/adverse effects , Thrombocytopenia , Child , Humans , Hypercholesterolemia/diagnosis , Hypercholesterolemia/genetics , Phytosterols/genetics , Anemia, Hemolytic/diagnosis , Intestinal Diseases/diagnosis , Intestinal Diseases/genetics , Thrombocytopenia/diagnosis
16.
Spectrochim Acta A Mol Biomol Spectrosc ; 312: 124081, 2024 May 05.
Article in English | MEDLINE | ID: mdl-38422936

ABSTRACT

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.


Subject(s)
Intestinal Diseases , Spectrum Analysis, Raman , Humans , Spectrum Analysis, Raman/methods , Sensitivity and Specificity , Intestinal Diseases/diagnosis , Principal Component Analysis
17.
Gastrointest Endosc ; 100(3): 492-500, 2024 Sep.
Article in English | MEDLINE | ID: mdl-38272273

ABSTRACT

BACKGROUND AND AIMS: Small-bowel (SB) capsule endoscopy (CE) is a first-line procedure for exploring the SB. Endoscopic GI PlacemenT (EGIPT) of SB CE is sometimes necessary. Although experience with EGIPT is considerable in pediatric populations, we aimed to describe the safety, efficacy, and outcomes of EGIPT of SB CE in adult patients. METHODS: The international CApsule endoscopy REsearch (iCARE) group set up a retrospective multicenter study. Patients over age 18 years who underwent EGIPT of SB CE before May 2022 were included. Data were collected from medical records and capsule recordings. The primary endpoint was the technical success rate of the EGIPT procedures. RESULTS: Of 39,565 patients from 29 centers, 630 (1.6%) were included (mean age, 62.5 years; 55.9% women). The technical success of EGIPT was achieved in 610 procedures (96.8%). Anesthesia (moderate to deep sedation or general anesthesia) and centers with intermediate or high procedure loads were independent factors of technical success. Severe adverse events occurred in 3 patients (.5%). When technically successful, EGIPT was associated with a high SB CE completion rate (84.4%) and with a substantial diagnostic yield (61.1%). The completion rate was significantly higher when the capsule was delivered in the SB compared with when it was delivered in the stomach. CONCLUSIONS: EGIPT of SB CE is highly feasible and safe, with a high completion rate and diagnostic yield. When indicated, it should be performed with patients under anesthesia, and the capsule should be delivered in the duodenum rather than the stomach for better SB examination outcomes.


Subject(s)
Capsule Endoscopy , Intestine, Small , Humans , Capsule Endoscopy/methods , Female , Male , Retrospective Studies , Middle Aged , Intestine, Small/diagnostic imaging , Aged , Adult , Intestinal Diseases/diagnostic imaging , Intestinal Diseases/diagnosis , Europe , Aged, 80 and over , Anesthesia, General , Young Adult , Adolescent
19.
Endoscopy ; 56(3): 174-181, 2024 Mar.
Article in English | MEDLINE | ID: mdl-37949103

ABSTRACT

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.


Subject(s)
Intestinal Diseases , Male , Humans , Middle Aged , Female , Intestinal Diseases/diagnosis , Intestinal Diseases/therapy , Retrospective Studies , Quality Improvement , Endoscopy, Gastrointestinal/methods , Intestine, Small/diagnostic imaging , Intestine, Small/pathology , Double-Balloon Enteroscopy/methods
20.
J Allergy Clin Immunol ; 153(3): 595-605, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38040040

ABSTRACT

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.


Subject(s)
Diabetes Mellitus, Type 1/congenital , Genetic Diseases, X-Linked , Immune System Diseases , Immune System Diseases/congenital , Intestinal Diseases , Polyendocrinopathies, Autoimmune , Humans , T-Lymphocytes, Regulatory , Diarrhea , Genetic Diseases, X-Linked/diagnosis , Genetic Diseases, X-Linked/genetics , Genetic Diseases, X-Linked/therapy , Intestinal Diseases/diagnosis , Intestinal Diseases/genetics , Immune System Diseases/diagnosis , Immune System Diseases/genetics , Immune System Diseases/therapy , Mutation , Forkhead Transcription Factors/genetics , Polyendocrinopathies, Autoimmune/diagnosis , Polyendocrinopathies, Autoimmune/genetics , Polyendocrinopathies, Autoimmune/therapy
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