Hasil untuk "Diseases of the digestive system. Gastroenterology"

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DOAJ Open Access 2026
Exploring genotype–phenotype correlations in three pediatric patients with IL10RA variants and very early-onset inflammatory bowel disease

Rubiao Qiu, Mengxu Zhang, Tingting Li et al.

Abstract Background Very early onset inflammatory bowel disease (VEO-IBD) is a severe chronic intestinal inflammatory disorder with onset in infancy. Mutations in the interleukin-10 (IL-10) receptor A (IL10RA) gene represent a key pathogenic mechanism of VEO-IBD; however, the genotype–phenotype correlations remain unclear. Objective This study aims to describe and compare the clinical features, genotypes, and family segregation data of three pediatric patients with IL10RA mutation-associated VEO-IBD to explore potential associations between different IL10RA mutation sites and types (compound heterozygous or homozygous) and clinical phenotypes. Methods Three VEO-IBD patients harboring IL10RA mutations diagnosed at our hospital from July 2022 to December 2024 were retrospectively enrolled. Genetic testing and family segregation analysis were performed for all patients. Detailed clinical data, including age of onset, manifestations, examinations, and treatment were collected. Phenotypic features were summarized and compared among different mutation types to establish genotype–phenotype relationships. Results All patients developed symptoms within six months, mainly diarrhea, perianal abscesses, and fistulas. Patient 1 had a homozygous c.301 C > T(p.Arg101Trp) mutation with severe perianal disease. Patient 2 carried compound heterozygous c.301 C > T(p.Arg101Trp) and c.537G > A(p.Thr179Thr) mutations, exhibiting recurrent oral ulcers, perianal lesions, and growth retardation, exhibiting a severe phenotype linked to compound/homozygous mutations. Patient 3 had a novel compound heterozygous IL10RA c.421G > A(p.Gly141Arg) mutation along with (c.301 C > T(p.Arg101Trp), with milder symptoms with a perianal disease and growth delay. Conclusion Our study identified homozygous or compound heterozygous IL10RA mutations associated with the VEO-IBD phenotype, with severe clinical features. The newly discovered c.421G > A(p.Gly141Arg) mutation may broadens the genetic spectrum associated with the disease.Although small in scale, this case series provides a meaningful contribution to the growing body of evidence on VEO-IBD.

Diseases of the digestive system. Gastroenterology
DOAJ Open Access 2025
Impact of peritoneal lavage on intra-abdominal abscess after laparoscopic appendectomy for perforated appendicitis: a propensity score matching analysis

Hao Lu, Shikuan Li, Chengzhi Wang et al.

Abstract Objective To investigate the impact of peritoneal lavage on the incidence of intra-abdominal abscess (IAA) after laparoscopic appendectomy (LA) in adults with perforated appendicitis. Methods Clinical data from adult patients intraoperatively diagnosed with perforated appendicitis and undergoing LA at the Affiliated Hospital of Qingdao University between January 2020 and January 2025 were retrospectively analyzed. Patients were divided into a no-peritoneal lavage group and a peritoneal lavage group based on whether peritoneal lavage was performed. A total of 128 patients were included, comprising 91 in the no-peritoneal lavage group and 37 in the peritoneal lavage group. Patient demographics were collected, and propensity score matching (PSM) was employed to compare clinical data between groups. Results After PSM, patient demographics showed no significant differences, indicating good balance (P > 0.05). There were no statistically significant differences between the two groups regarding operative time, postoperative antibiotic duration, postoperative length of stay(LOS), or postoperative IAA incidence (P > 0.05). Conclusion Our findings indicate that compared to suction alone, peritoneal lavage did not reduce the incidence of postoperative IAA in adults undergoing LA for acute perforated appendicitis. There is no evidence that patients benefit from lavage. Prospective multicenter randomized controlled trials are warranted.

Diseases of the digestive system. Gastroenterology
DOAJ Open Access 2025
Microbial micronutrient sharing, gut redox balance and keystone taxa as a basis for a new perspective to solutions targeting health from the gut

Robert E. Steinert, Ateequr Rehman, Mehdi Sadaghian Sadabad et al.

In health, the gut microbiome functions as a stable ecosystem maintaining overall balance and ensuring its own survival against environmental stressors through complex microbial interaction. This balance and protection from stressors is maintained through interactions both within the bacterial ecosystem as well as with its host. As a consequence, the gut microbiome plays a critical role in various physiological processes including maintaining the structure and function of the gut barrier, educating the gut immune system, and modulating the gut motor, digestive/absorptive, as well as neuroendocrine system all of which are crucial for human health and disease pathogenesis. Pre- and probiotics, widely available and clinically established, offer various health benefits primarily by beneficially modulating the gut microbiome. However, their clinical outcomes can vary significantly due to differences in host physiology, diets, individual microbiome compositions, and other environmental factors. This perspective paper highlights emerging scientific insights into the importance of microbial micronutrient sharing, gut redox balance, keystone species, and the gut barrier in maintaining a diverse and functional microbial ecosystem, and their relevance to human health. We propose a novel approach that targets microbial ecosystems and keystone taxa performance by supplying microbial micronutrients in the form of colon-delivered vitamins, and precision prebiotics [e.g. human milk oligosaccharides (HMOs) or synthetic glycans] as components of precisely tailored ingredient combinations to optimize human health. Such a strategy may effectively support and stabilize microbial ecosystems, providing a more robust and consistent approach across various individuals and environmental conditions, thus, overcoming the limitations of current single biotic solutions.

Diseases of the digestive system. Gastroenterology
S2 Open Access 2023
Comparative effectiveness and cost-effectiveness of cardioprotective glucose-lowering therapies for type 2 diabetes in Brazil: a Bayesian network model

A. Nogueira, Joaquim Barreto, F. Moura et al.

Background The escalating prevalence of type 2 diabetes (T2DM) poses an unparalleled economic catastrophe to developing countries. Cardiovascular diseases remain the primary source of costs among individuals with T2DM, incurring expenses for medications, hospitalizations, and surgical interventions. Compelling evidence suggests that the risk of cardiovascular outcomes can be reduced by three classes of glucose-lowering therapies (GLT), including SGLT2i, GLP-1A, and pioglitazone. However, an evidence-based and cost-effective protocol is still unavailable for many countries. The objective of the current study is to compare the effectiveness and cost-effectiveness of GLT in individuals with T2DM in Brazil. Methods We employed Bayesian Networks to calculate the incremental cost-effectiveness ratios (ICER), expressed in international dollars (Int$) per disease-adjusted life years [DALYs] averted. To determine the effectiveness of GLT, we conducted a systematic review with network meta-analysis (NMA) to provide insights for our model. Additionally, we obtained cardiovascular outcome incidence data from two real-world cohorts comprising 851 and 1337 patients in primary and secondary prevention, respectively. Our cost analysis took into account the perspective of the Brazilian public health system, and all values were converted to Int$. Results In the NMA, SGLT2i [HR: 0.81 (95% CI 0.69–0.96)], GLP-1A [HR: 0.79 (95% CI 0.67–0.94)], and pioglitazone [HR: 0.73 (95% CI 0.59–0.91)] demonstrated reduced relative risks of non-fatal cardiovascular events. In the context of primary prevention, pioglitazone yielded 0.2339 DALYs averted, with an ICER of Int$7,082 (95% CI 4,521–10,770) per DALY averted when compared to standard care. SGLT2i and GLP-1A also increased effectiveness, resulting in 0.261 and 0.259 DALYs averted, respectively, but with higher ICERs of Int$12,061 (95% CI: 7,227–18,121) and Int$29,119 (95% CI: 23,811–35,367) per DALY averted. In the secondary prevention scenario, all three classes of treatments were deemed cost-effective at a maximum willingness-to-pay threshold of Int$26,700. Notably, pioglitazone consistently exhibited the highest probability of being cost-effective in both scenarios. Conclusions In Brazil, pioglitazone presented a higher probability of being cost-effective both in primary and secondary prevention, followed by SGLT2i and GLP-1A. Our findings support the use of cost-effectiveness models to build optimized and hierarchical therapeutic strategy in the management of T2DM. Trial registration CRD42020194415.

2 sitasi en Medicine
DOAJ Open Access 2023
Multicenter propensity score‐matched analysis comparing short versus long cap‐assisted colonoscopy for acute hematochezia

Mariko Kobayashi, Shintaro Akiyama, Toshiaki Narasaka et al.

Abstract Background and Aim While short and long attachment caps are available for colonoscopy, it is unclear which type is more appropriate for stigmata of recent hemorrhage (SRH) identification in acute hematochezia. This study aimed to compare the performance of short versus long caps in acute hematochezia diagnoses and outcomes. Methods We selected 6460 patients who underwent colonoscopy with attachment caps from 10 342 acute hematochezia cases in the CODE BLUE‐J study. We performed propensity score matching (PSM) to balance baseline characteristics between short and long cap users. Then, the proportion of definitive or presumptive bleeding etiologies found on the initial colonoscopy and SRH identification rates were compared. We also evaluated rates of blood transfusions, interventional radiology, or surgery, as well as the rate of rebleeding and mortality within 30 days after the initial colonoscopy. Results A total of 3098 patients with acute hematochezia (1549 short cap and 1549 long cap users) were selected for PSM. The rate of colonic diverticular bleeding (CDB) diagnosis was significantly higher in long cap users (P = 0.006). While the two groups had similar rates of the other bleeding etiologies, the frequency of unknown etiologies was significantly lower in long cap users (P < 0.001). The rate of SRH with active bleeding was significantly higher in long cap users (P < 0.001). Other clinical outcomes did not differ significantly. Conclusion Compared to that with short caps, long cap‐assisted colonoscopy is superior for the diagnosis of acute hematochezia, especially CDB, and the identification of active bleeding.

Diseases of the digestive system. Gastroenterology
S2 Open Access 2023
COVID-19 in Pediatric Intensive Care Units in Poland, PAPITCO-19 Study (Polish Analysis of PICU Trends during COVID-19)

Maria Damps, E. Byrska-Maciejasz, M. Kowalska et al.

Background: Children suffering from COVID-19 constitute about 10% of the entire population infected with the virus. In most of them, we observe asymptomatic or mild courses; however, about 1% of affected children require a stay in a paediatric intensive care unit (PICU) due to the course of the disease becoming severely life-threatening. The risk of respiratory failure, as with adults, is associated with the coexistence of concomitant diseases. The aim of our study was to analyse patients admitted to PICUs due to the severe course of their SARS-CoV-2 infection. We studied epidemiological and laboratory parameters, as well as the endpoint (survival or death). Methods: A retrospective multi-centre study, the analysis covered all children with a confirmed diagnosis of SARS-CoV-2 virus infection who were admitted to PICUs in the period from November 2020 to August 2021. We studied epidemiological and laboratory parameters, as well as the endpoint (survival or death). Results: The study analysed 45 patients (0.075% of all children hospitalised in Poland due to COVID-19 at that time). Mortality calculated in the entire study group was 40% (n = 18). Statistically significant differences between the compared groups (survived and died) concerned the parameters of the respiratory system. Lung Injury Score and the Paediatric Sequential Organ Failure Assessment were used. A significant correlation between disease severity and the patient’s prognosis was shown by the liver function parameter AST (p = 0.028). During the analysis of patients requiring mechanical ventilation and assuming survival as the primary outcome, a significantly higher oxygen index on the first day of hospitalisation, lower pSOFA scores and lower AST levels (p: 0.007; 0.043; 0.020; 0.005; 0.039, respectively) were found. Conclusions: As with adults, children with comorbidities are most frequently at risk of severe SARS-CoV-2 infection. Increasing symptoms of respiratory failure, the need for mechanical ventilation and persistently high values of aspartate aminotransferase are indicators of poor prognosis.

en Medicine
S2 Open Access 2023
Knowledge, attitudes, and barriers of dietitians toward screening patients for food insecurity

countries, Initiatives, in Europe et al.

Abstract Background Global food insecurity (FI) prevalence in 2020 was 30.4%. In Israel, in 2021, it was 16.2%. FI is associated with a high prevalence of chronic diseases, more hospital admissions and visits, and a shorter lifespan. Screening for FI in the health setting is less common, despite recommendations. Methods Between July 2022 - February 2023, a mixed-methods study distributed an online survey and a request for qualitative interviews among a convenience sample of registered dietitians (RDs). The survey obtained sociodemographic characteristics and information on work experience, knowledge, attitudes, and barriers toward screening for FI. Sixty-one questions were modified from existing questionnaires. An expert committee reviewed the questions. Later, the questionnaire was pilot-tested by ten RDs and amended according to their comments on the clarity. Results Overall, 140 RDs were surveyed, and 7 RDs were interviewed. 96.7% of the participants were female, with a mean of 13.36±9.9 years of experience. 97% of RDs didn't screen for FI. 65.5% didn't know the percentage of households living with FI in Israel, and 72.1% of RDs didn't know where to refer food-insecure patients for additional assistance. Positive attitudes toward screening and treating FI were documented. About 80% of RDs indicated that FI is relevant to their patients and are willing to screen for FI. Religious and traditional RDs had 10.08 times and 4.46 times, respectively, greater odds of having positive attitudes toward screening and treating food-insecure patients. The main barriers identified were a lack of time, knowledge of screening tools, and missing information on appropriate treatment and referral. Conclusions Further education and training in screening FI should be implemented among RDs. System barriers should be addressed to allow RDs routine screening for FI. Additional research is needed to explore healthcare providers’ attitudes and barriers toward screening and treating FI. Key messages • Most registered dietitians had a low level of knowledge and did not screen routinely for food insecurity. • The majority were positive towards screening, highlighting system and training barriers.

S2 Open Access 2022
Lymph Node Involvement in Early-Stage Cervical Cancer: Is Lymphangiogenesis a Risk Factor? Results from the MICROCOL Study

M. Tantari, S. Bogliolo, M. Morotti et al.

Simple Summary The prognosis of cervical cancer is significantly influenced by lymph node involvement. The lymphatic system is the primary way of metastasis for cervical carcinoma, and lymph-vascular space invasion (LVSI) is considered the most important risk factor for pelvic lymph node metastasis (PLNM). Previous studies have not clarified the correlation between lymphangiogenesis and an increased risk of metastasis and tumor recurrence. The evaluation and identification of several markers of lymphangiogenesis may identify patients with high risk of PLNM. Our findings suggest that the lymphatic spread does not required the proliferation of new lymphatic endothelial cells. These results emphasize the importance of pre-existing peritumoral lymphatic vessels in the metastatic process in early cervical cancer. Abstract Background: In patients with cervical cancer, the presence of tumoral lymph-vascular space invasion (LVSI) is the main risk factor for pelvic lymph node metastasis (PLNM). The objective of this study was to evaluate the presence of several markers of lymphangiogenesis in early-stage cervical cancer and their correlation with PLNM and tumoral recurrence. Materials and Methods: Seventy-five patients with early-stage cervical carcinoma underwent sentinel lymph node (SLN) sampling in association with complete pelvic lymph node dissection. Primary tumors were stained with the following markers: Ki67, D2-40, CD31 and VEGF-C. A 3-year follow-up was performed to evaluate the disease-free survival. Results: Overall, 14 patients (18.6%) had PLNM. Positive LVSI was seen in 29 patients (38.6%). There was a significant correlation between LVSI evidenced by H/E staining and PLNM (p < 0.001). There was no correlation between high Ki67, CD31, D2-40, and VEGF-C staining with PLNM or tumor recurrence. Conclusions: Our data support that lymphatic spread does not require the proliferation of new lymphatic endothelial cells in early-stage cervical cancer. These results emphasize the importance of pre-existing peritumoral lymphatic vessels in the metastatic process in early cervical cancer. None of the markers of lymphangiogenesis and proliferation assessed in this study were predictive of PLNM or recurrence.

17 sitasi en Medicine
S2 Open Access 2022
Age- and Sex-Matched Normal Leukocyte Subset Ranges in the General Population Defined with the EuroFlow Lymphocyte Screening Tube (LST) for Monoclonal B-Cell Lymphocytosis (MBL) vs. Non-MBL Subjects

I. Criado, Wendy G Nieto, Guillermo Oliva-Ariza et al.

Simple Summary Assessment of the status of the immune system in both health and disease requires robust and reliable reference ranges for the different blood leukocyte (sub)populations that take into consideration factors that might influence their distribution, such as age, sex, ethnicity and the presence vs. absence of low-count monoclonal B-cell lymphocytosis with a chronic-lymphocytic-leukemia-like phenotype (MBLlo). It should be noted that despite MBLlo being highly prevalent in the general population and being associated with immune impairment, MBLlo individuals have not been previously excluded in the definition of normal leukocyte ranges. Here, we provide reference cell-count ranges for the major leukocyte populations identified in blood using an optimized and fully validated 8-color flow-cytometry antibody combination based on the largest (n = 706) cohort reported to date of Caucasian adult donors from the general population, grouped by age and sex, and highlight the altered immune profiles associated with MBLlo (622 non-MBL and 84 MBLlo subjects). Abstract Reference ranges of blood-circulating leukocyte populations by, e.g., age and sex, are required for monitoring immune-cell kinetics. Most previous reports in which flow cytometry has been used to define the reference ranges for leukocyte counts included a limited number of donors and/or cell populations and/or did not consider age and sex simultaneously. Moreover, other factors not previously considered in the definition of normal ranges, such as the presence of chronic-lymphocytic-leukemia (CLL)-like low-count monoclonal B-cell lymphocytosis (MBLlo), might also be associated with an altered distribution of leukocytes in blood in association with an immunodeficiency and increased risk of infection and cancer. Here, we established reference cell-count ranges for the major populations of leukocytes in blood of non-MBL and MBLlo adult Caucasians matched by age and sex using the EuroFlow Lymphocyte Screening Tube (LST). A total of 706 Caucasian adult donors—622 non-MBL and 84 MBLlo—were recruited from the general population. Among non-MBL donors, the total leukocyte, neutrophil, basophil dendritic cell and monocyte counts remained stable through adulthood, while the absolute numbers of T- and B-cell populations and plasma cells decreased with age. The number of eosinophils and NK-cell increased over time, with clear differences according to sex for certain age ranges. In MBLlo subjects, few differences in the absolute cell counts by age (vs. non-MBL) were observed, and MBLlo men and women showed similar trends to non-MBL subjects except for the B-cell count drop observed in >70 y-men, which was more pronounced in MBLlo vs. non-MBL controls. Building robust age- and sex-matched reference ranges for the most relevant immune-cell populations in the blood of non-MBL donors is essential to appropriately identify an altered immune status in different clinical settings and highlight the altered immune-cell profiles of MBLlo subjects.

11 sitasi en Medicine
DOAJ Open Access 2022
Efficacy of endoscopic retrograde cholangiopancreatography in familial adenomatous polyposis patients after duodenectomy

Ravi S. Shah, Neal Mehta, Carol A. Burke et al.

Abstract Objectives Familial adenomatous polyposis (FAP) patients with Spigelman stage IV polyposis should be considered for prophylactic duodenectomy. Post‐surgical pancreaticobiliary complications occur and may require management via endoscopic retrograde cholangiopancreatography (ERCP). We aimed to assess the success and adverse events of ERCP in FAP patients after pancreas‐sparing duodenectomy (PSD) and pancreaticoduodenectomy (PD). Methods A retrospective review of FAP patients who underwent ERCP after PSD or PD from 1992 to 2020 at a quaternary referral center was completed. The technical success of ERCP was defined as the ability to identify the anastomosis and cannulate the duct. Post‐procedural adverse events were defined by bleeding, perforation, pancreatitis, or cholangitis. Clinical outcomes included the need for surgical intervention and recurrent pancreatitis after ERCP were assessed. Results Of 84 FAP patients with duodenectomy, 12 patients with PSD and two patients with PD underwent 17 ERCPs for pancreatic indications and five for biliary indications. The technical success of ERCP in patients with PSD and a single neoampullary complex for pancreatic (n = 6) and biliary (n = 5) indications was 100% but for those with PD (n = 2) or PSD reconstruction with pancreatic divisum or separate anastomoses (n = 3), it was 0%. Surgical intervention was required in 50% of patients with technically failed ERCP after PSD (2/4) and PD (1/2). There were no adverse events. Conclusions ERCP is expected to be therapeutically successful for biliary complications following PSD. Assessment and potential therapy for pancreatitis post‐PSD are best in the setting of a single neo‐ampullary complex rather than in PD or PSD with pancreatic divisum.

Diseases of the digestive system. Gastroenterology
DOAJ Open Access 2022
Single operator experience of endoscopic submucosal dissection for Barrett's neoplasia in a North American academic center

Douglas Motomura, Robert Bechara

Abstract Objectives Endoscopic submucosal dissection (ESD) is carving out an increasing role in the treatment of Barrett's associated neoplasia. ESD provides the advantage of en‐bloc resections and greater R0 resection rates. We aim to present outcomes from one of the largest single‐center cohorts of esophageal ESD in North America. Methods All patients undergoing esophageal ESD for Barrett's neoplasia between Oct 2016 and June 2020 at a Canadian tertiary care center were included. Demographic, procedural data, and lesion characteristics are presented. Subgroup analysis was performed on patients who underwent extensive resection (≥75% of esophageal circumference) and the patients who developed strictures. Results Thirty‐four patients were included in the series. The median lesion diameter was 5.7 cm and the median procedure time was 129 min. The en‐bloc resection rate was 97%, and the R0 resection rate was 91%. Curative resection was achieved in 82% of patients. Upstaging in histology occurred in 59% of cases. Two adverse events occurred, and there were no perforations. Procedural outcomes were similar in patients with extensive resections, but those with ≥75% circumferential resection developed more strictures (65% vs. 6.3%, p < 0.01). Stricture formation was associated with extensive resection (odds ratio [OR]: 27.5, p < 0.01) and longer lesion diameter (OR: 1.7, p = 0.02). Conclusion Our experience with ESD for Barrett's related neoplasia shows excellent en‐bloc and R0 resection rate, and provides more accurate histological specimens. Curative resection is possible in the majority of cases, including those with extensive resections. Further investigation into stricture prophylaxis will be useful as near circumferential resections are attempted.

Diseases of the digestive system. Gastroenterology

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