Abnormalities Of Gastrointestinal Tract Research Articles

A Robust Approach for Ulcer Classification/Detection in WCE Images

Wireless Capsule Endoscopy (WCE) is a medical diagnostic technique recognized for its minimally invasive and painless nature for the patients. It uses remote imaging techniques to explore various segments of the gastrointestinal (GI) tract, particularly the hard-to-reach small intestine, making it an effective alternative to traditional endoscopic techniques. However, physicians face a significant challenge when it comes to analyzing a large number of endoscopic images due to the effort and time required. It is therefore imperative to implement aided-diagnostic systems capable of automatically detecting suspicious areas for subsequent medical assessment. In this paper, we present a novel approach to identify gastrointestinal tract abnormalities from WCE images, with a particular focus on ulcerated areas. Our approach involves the use of the Median Robust Extended Local Binary Pattern (MRELBP) descriptor, which effectively overcomes the challenges faced when WCE image acquisition, such as variations in illumination and contrast, rotation, and noise. Using machine learning algorithms, we conducted experiments on the extensive Kvasir-Capsule dataset, and subsequently compared our results with recent relevant studies. Noteworthy is the fact that our approach achieved an accuracy of 97.04% with the SVM (RBF) classifier and 96.77% with the RF classifier.

Is COVID-19 Infection a Multiorganic Disease? Focus on Extrapulmonary Involvement of SARS-CoV-2.

First described in December 2019 in Wuhan (China), COVID-19 disease rapidly spread worldwide, constituting the biggest pandemic in the last 100 years. Even if SARS-CoV-2, the agent responsible for COVID-19, is mainly associated with pulmonary injury, evidence is growing that this virus can affect many organs, including the heart and vascular endothelial cells, and cause haemostasis, CNS, and kidney and gastrointestinal tract abnormalities that can impact in the disease course and prognosis. In fact, COVID-19 may affect almost all the organs. Hence, SARS-CoV-2 is essentially a systemic infection that can present a large number of clinical manifestations, and it is variable in distribution and severity, which means it is potentially life-threatening. The goal of this comprehensive review paper in the series is to give an overview of non-pulmonary involvement in COVID-19, with a special focus on underlying pathophysiological mechanisms and clinical presentation.

The correlation with abnormal fetal outcome and a high level of amniotic fluid alpha-fetoprotein in mid-trimester

ObjectiveTo evaluate the correlation of high levels [>2.0 multiples of median (MoM)] of amniotic fluid alpha-fetoprotein (AFAFP) in midtrimester with abnormal fetal outcome. Materials and methodsWe retrospectively studied 6245 pregnant women with singleton pregnancy who had undergone amniocentesis between 15 and 27 weeks’ gestation at Mackay Memorial Hospital between January 2014 and June 2020. Fifty-five cases had high AFAFP levels (>2.0 MoM). We investigated the abnormal fetal outcomes. ResultsAmong the fifty-five cases with high AFAFP levels (>2.0 MoM), thirty (54.5%) had fetal chromosomal abnormalities, major structural abnormalities, and/or adverse obstetric events. Eight cases (14.5%) had chromosomal abnormalities including trisomy 21 (3 cases), trisomy 18 (3 cases), mosaic trisomy 18 (1 cases), and mosaic ring 13 (1 case). Seventeen cases (30.9%) had major structural abnormalities including abdominal wall defect (6 cases) and central nervous system (5 cases), gastrointestinal tract (3 cases), cardiovascular (2 cases), and genitourinary tract (2 cases) abnormalities. Fifteen cases (27%) had adverse obstetric events, including preterm delivery (5 cases), intrauterine fetal demise (4 cases), small for gestational age (4 cases), preeclampsia (4 cases), gestational diabetes mellitus (2 cases), gestational hypertension (1 case), preterm prelabor rupture of membrane (1 case), prolonged labor (1 case), and preterm uterine contraction (1 case). ConclusionA high AFAFP level (>2.0 MoM) in midtrimester can be associated with abnormal fetal outcome, including chromosomal abnormalities, major structural abnormalities, and adverse obstetric events. Women with a prenatal diagnosis of high AFAFP levels (>2.0 MoM) should be alerted of the possibility of abnormal fetal outcomes, and further detailed genetic studies and serial sonographic examinations are recommended.

Overnight 1-mg Dexamethasone Suppression Test for Screening Cushing Syndrome and Mild Autonomous Cortisol Secretion (MACS): What Happens when Serum Dexamethasone Is Below Cutoff? How Frequent Is it?

ObjectiveTo determine the frequency of “invalid” 1-mg overnight dexamethasone (Dex) suppression tests (DSTs) (1-mg DST) on a large series of patients investigated for hypercortisolism and examine the interference of substances and clinical conditions that may explain low serum Dex levels. MethodsA retrospective analysis of 1300 Dex-controlled 1-mg DST applied to patients screened for Cushing syndrome or mild autonomous cortisol secretion in a single center for which there were identified invalid tests and distinctive characteristics that may have interfered with the outcome. ResultsAmong all tests, 146 (11.2%) were considered invalid (serum Dex levels <140 ng/dL, 36 [24.7%] of which were undetectable [<19.5 ng/dL]). In the Dex-undetectable group, 17% failed to take Dex correctly, 25% were on glucocorticoids (GCs), and 20% were on anticonvulsants and moderate CYP3A4 inducers. In the remaining 110 tests (serum Dex 20-140 ng/dL), 6.5% did not take Dex or were using GC, 22% were on anticonvulsants or CYP3A4 inducers, and another 13% had previous gastrointestinal tract abnormalities impairing drug absorption. ConclusionInappropriately low serum Dex levels during the 1-mg DST may lead to false-positive results. This is associated with recurrent use of CYP3A4-inducing drugs and/or gastrointestinal abnormalities. When serum Dex is undetectable, the key reason is failure to take the medication or the use of GC (when cortisol is suppressed). Simultaneous measurement of serum cortisol and Dex allows for DST validation, improving its accuracy and avoiding unnecessary repetitions. Adherence to verbal/written recommendations and actual use of medication are critical for interpreting the test.

Critical review of the utilization of Panchagavya in the form of Nutraceuticals

Background: In India Cow represents Mother Earth and is commonly called as ‘Gaumata’ because of its nourishing nature. In Ayurveda, since ancient time’s cow products have been used for a healthy body, therapeutic purposes and pharmaceutical processes. Panchagavya is a mixture prepared by using five ingredients derived from Cow. The three direct ingredients are cow dung, cow urine and cow milk and the two derived products are ghee and curd each of which represents ‘Gavya’ i.e., obtained from Gou (Cow). Each Gavya can be used individually or in combination with other products. Any product generated from food sources having additional health advantages in addition to the essential nutritional content contained in foods is considered as a Nutraceutical. The long standing consumer acceptability of nutraceuticals is brought about by their association with conventional medicine. Although the idea of nutraceuticals has grown in popularity recently, it has its roots in the traditional Ayurvedic medicine of ancient India. Aims and Objectives: This work is a modest attempt to employ Panchagavya as a kind of nutraceutical. Materials and Methods: Various books and review articles were referred to carry out this review. Results and Conclusion: A number of illness, including obesity, dietary and gastrointestinal tract abnormalities, leucoderma, wound healing, leucorrhoea, hepatitis, TB, ulcer, chemical intoxication, as well as other bacterial, fungal and viral infections, are advised for Panchgavya therapy. Nutraceuticals are substances that have physiological benefits or provide protection against chronic diseases. Using this concept, Panchgavya can be used as a kind of nutraceutical.

Fetal congenital gastrointestinal obstruction: prenatal diagnosis of chromosome microarray analysis and pregnancy outcomes

ObjectiveThe aim of this study was to investigate the incidence of chromosome anomalies in different types of congenital gastrointestinal obstruction and assess pregnancy outcomes of fetuses with congenital gastrointestinal obstruction.MethodsA total of 64 cases with gastrointestinal obstruction between January 2014 and December 2020 were enrolled in this study. They were divided into three groups according to sonographic images. Group A: isolated upper gastrointestinal obstruction; Group B: isolated lower gastrointestinal obstruction; Group C: non-isolated gastrointestinal obstruction. The rate of chromosome anomalies in different groups was calculated. Pregnant women with amniocentesis were followed up by medical records and telephone. The follow-up included pregnancy outcomes and development of the live born infants.ResultFrom January 2014 to December 2020, there were 64 fetus with congenital gastrointestinal obstruction underwent chromosome microarray analysis(CMA), the overall detection rate of CMA testing was 14.1%(9/64). The detection rate of Group A, B and C were 16.2%, 0 and 25.0% respectively. 9 fetuses with abnormal CMA results were all terminated. Among 55 fetuses with normal chromosomes, 10(18.2%) fetuses were not found to have any gastrointestinal obstruction after birth. 17(30.9%) fetuses were diagnosed with gastrointestinal obstruction and underwent surgical treatment after birth, one of which had lower gastrointestinal obstruction combined with biliary obstruction and died due to liver cirrhosis. 11(20.0%) pregnancy were terminated due to multiple abnormalities. 5(9.1%) fetuses were intrauterine death. 3(5.5%) fetuses were neonatal deaths. 9(16.4%) fetuses were lost to follow-up.ConclusionIt is crucial to understand whether the gastrointestinal tract abnormality is isolated or associated to other findings. The risk of chromosomal abnormalities in fetuses with isolated lower gastrointestinal obstruction is lower than upper gastrointestinal obstruction. While genetic abnormalities excluded, a promising prognosis is expected for fetuses with congenital gastrointestinal obstruction.

The Role of Ion Channels in Functional Gastrointestinal Disorders (FGID): Evidence of Channelopathies and Potential Avenues for Future Research and Therapeutic Targets.

Several gastrointestinal (GI) tract abnormalities, including visceral hypersensitivity, motility, and intestinal permeability alterations, have been implicated in functional GI disorders (FGIDs). Ion channels play a crucial role in all the functions mentioned above. Hormones and natural molecules modulate these channels and represent targets of drugs and bacterial toxins. Mutations and abnormal functional expression of ion channel subunits can lead to diseases called channelopathies. These channelopathies in gastroenterology are gaining a strong interest, and the evidence of co-relationships is increasing. In this review, we describe the correlation status between channelopathies and FGIDs. Different findings are available. Among others, mutations in the ABCC7/CFTR gene have been described as a cause of constipation and diarrhea. Mutations of the SCN5A gene are instead associated with irritable bowel syndrome. In contrast, mutations of the TRPV1 and TRPA genes of the transient receptor potential (TRP) superfamily manifest hypersensitivity and visceral pain in sensory nerves. Recently, mice and humans affected by Cantu syndrome (CS), which is associated with the mutations of the KCNJ8 and ABCC9 genes encoding for the Kir6.1 and SUR2 subunits, showed dysfunction of contractility throughout the intestine and death in the mice after the weaning on solid food. The discovery of a correlation between channelopathies and FIGD opens new avenues for discovering new direct drug targets for specific channelopathies, leading to significant implications for diagnosing and treating functional GI diseases.

A Comparative Analysis of Optimization Algorithms for Gastrointestinal Abnormalities Recognition and Classification Based on Ensemble XcepNet23 and ResNet18 Features.

Esophagitis, cancerous growths, bleeding, and ulcers are typical symptoms of gastrointestinal disorders, which account for a significant portion of human mortality. For both patients and doctors, traditional diagnostic methods can be exhausting. The major aim of this research is to propose a hybrid method that can accurately diagnose the gastrointestinal tract abnormalities and promote early treatment that will be helpful in reducing the death cases. The major phases of the proposed method are: Dataset Augmentation, Preprocessing, Features Engineering (Features Extraction, Fusion, Optimization), and Classification. Image enhancement is performed using hybrid contrast stretching algorithms. Deep Learning features are extracted through transfer learning from the ResNet18 model and the proposed XcepNet23 model. The obtained deep features are ensembled with the texture features. The ensemble feature vector is optimized using the Binary Dragonfly algorithm (BDA), Moth-Flame Optimization (MFO) algorithm, and Particle Swarm Optimization (PSO) algorithm. In this research, two datasets (Hybrid dataset and Kvasir-V1 dataset) consisting of five and eight classes, respectively, are utilized. Compared to the most recent methods, the accuracy achieved by the proposed method on both datasets was superior. The Q_SVM's accuracies on the Hybrid dataset, which was 100%, and the Kvasir-V1 dataset, which was 99.24%, were both promising.

473 Exploring gastrointestinal bacterial colonization in rosacea as a biomarker for systemic abnormalities in innate immunity

OBJECTIVES/GOALS: To investigate the relationship between abnormal bacterial colonization of the gastrointestinal (GI) tract and systemic abnormalities in innate immunity as it contributes to the pathogenesis of rosacea. METHODS/STUDY POPULATION: This is a prospective observational study of patients with erythematotelangiectatic or papulopustular rosacea. The study participants will undergo urea breath testing for Helicobacter pylori (Hp) and hydrogen-methane breath testing for small intestinal bacterial overgrowth (SIBO). Colonic microbiome analysis will be performed using 16S rRNA sequencing of fecal samples. Further, key pro-inflammatory cytokines will be quantified from serum samples. Markers for rosacea subjects and subgroups will be compared by standard analysis of variance methods where appropriate, and Tukey studentized range tests will be done for specific comparisons. Chi-square tests will be used to assess group differences in categorical data. At least 42 subjects will be studied to provide 80% power atα-0.05. RESULTS/ANTICIPATED RESULTS: We hypothesize that the results of this study will support an observed relationship between abnormal GI bacterial colonization and systemic innate immunity abnormalities in rosacea as determined by three primary endpoints: a significantly greater prevalence of Hp and SIBO in rosacea participants, presence of pro-inflammatory cytokines linked to rosacea pathogenesis including interleukin (IL)-1β, IL-6, IL-8, tumor necrosis factor (TNF)-α, and Granulocyte-macrophage colony-stimulating factor (GM-CSF), and observation of distinct, metabolically active colonic bacterial communities specific to rosacea participants. DISCUSSION/SIGNIFICANCE: By identifying rosacea as a cutaneous manifestation of a more systemic inflammatory disease, the results of this study will have implications for the development of important pharmacological interventions targeting key inflammatory pathways in rosacea pathogenesis.

Comparison of Findings From Fecal Occult Blood Test and Esophagogastroduodenoscopy With Histopathology Among Symptomatic Saudi Adults: A Retrospective Study.

Background A fecal occult blood test is an established way to detect blood in stool samples. However, this diagnostic test is prone to false positives and false negatives, not to mention misuse and misinterpretation of results. In this study, we aimed to compare relevant findings among three diagnostic tests: a fecal occult blood test, an esophagogastroduodenoscopy, and histopathology. Methods This study used a retrospective analysis of 74 patients' electronic medical records from September 2021 to September 2022 at the Human Clinic and Gastroenterology Specialized Clinic in Riyadh, Saudi Arabia. Symptomatic adult Saudi patients who underwent a fecal occult blood test, esophagogastroduodenoscopy, and histopathology were included in the study. Results A total of 74 patients with a mean age of 43.76 ± 15.1 years were analyzed. More than half of the patients were men (63.5%). Eighteen (18) individuals tested positive through a fecal occult blood test, and 49 individuals showed a positive finding under esophagogastroduodenoscopy. Furthermore, statistical analyses revealed a significant correlation between fecal occult blood test outcomes and histopathological outcomes (p= 0.001). Conclusion A significant proportion of the sample population presented a false negative result under the fecal occult blood test. This emphasizes the importance of confirmatory endoscopic procedures and subsequent histopathology in the diagnosis of abnormalities in the upper gastrointestinal tract.

Automated identification of human gastrointestinal tract abnormalities based on deep convolutional neural network with endoscopic images

• A specialized DCNN architecture is proposed to accurately classify human gastrointestinal abnormalities. • It is designed with multiple routes, various image resolutions, and several convolutional layers. • HGANet outperforms state-of-the-art algorithms, exhibiting 0.974 MCC for gastrointestinal abnormalities. • It requires less evaluation time, FLOPS, and parameters compared to previous methods. As a powerful analytic tool for medical image analysis, particularly for endoscopic image interpretation, deep convolutional neural network (DCNN) has gained remarkable attention due to its capacity to provide results comparable to or even exceeding those of medical experts. Automated identification of gastrointestinal abnormalities with endoscopic images is a challenging task even for experienced gastroenterologists which could greatly aid medical diagnosis and reduce the time and cost of investigational procedures. Nonetheless, in medical diagnosis, the human gastrointestinal tract findings are manually determined, and greatly depend on the prowess of the gastrointestinal endoscopist. In addition, this evaluation is laborious and onerous, and there is also a high degree of intra- and inter-laboratory discrepancy in the outcomes. With the aim of preventing these issues, a specialized DCNN architecture is proposed to accurately identify human gastrointestinal abnormalities with endoscopic images. It is meticulously designed with multiple routes, various image resolutions and several convolutional layers to improve the efficacy and performance. The results of our proposed deep learning-based method are presented in terms of specificity, recall, area under the receiver operating characteristics (AUROC) and other metrics in Kvasir dataset. The experimental results of the proposed algorithm outdo recent techniques, exhibiting 0.9743 Matthews correlation coefficient (MCC), and can be used to assist gastroenterologists for the classification of gastrointestinal tract abnormalities. Proposed model is also assessed on skewed Kvasir-Capsule dataset to show its genericity. Consequently, this approach offers an innovative and attainable way for accelerating and systematizing the classification of human gastrointestinal abnormalities along with saving time and exertion.

A STUDY OF BLOOD LIPID PROFILE IN CHILDREN WITH DOWN SYNDROME COMPARED TO OTHER CHILDREN

Down syndrome (DS) is one of the most common causes of developmental disability in the world with a prevalence of 1:800 live births. Persons born with DS are at increased risk for various health conditions, including thyroid disease, leukemia, congenital heart defects, gastrointestinal tract abnormalities, obesity, and diabetes mellitus. Despite this increased risk of chronic disease, life expectancy for individuals with DS has continued to improve with an estimated mean survival approaching 60 years of age.

A Novel Multi-Feature Fusion Method for Classification of Gastrointestinal Diseases Using Endoscopy Images.

The first step in the diagnosis of gastric abnormalities is the detection of various abnormalities in the human gastrointestinal tract. Manual examination of endoscopy images relies on a medical practitioner’s expertise to identify inflammatory regions on the inner surface of the gastrointestinal tract. The length of the alimentary canal and the large volume of images obtained from endoscopic procedures make traditional detection methods time consuming and laborious. Recently, deep learning architectures have achieved better results in the classification of endoscopy images. However, visual similarities between different portions of the gastrointestinal tract pose a challenge for effective disease detection. This work proposes a novel system for the classification of endoscopy images by focusing on feature mining through convolutional neural networks (CNN). The model presented is built by combining a state-of-the-art architecture (i.e., EfficientNet B0) with a custom-built CNN architecture named Effimix. The proposed Effimix model employs a combination of squeeze and excitation layers and self-normalising activation layers for precise classification of gastrointestinal diseases. Experimental observations on the HyperKvasir dataset confirm the effectiveness of the proposed architecture for the classification of endoscopy images. The proposed model yields an accuracy of 97.99%, with an F1 score, precision, and recall of 97%, 97%, and 98%, respectively, which is significantly higher compared to the existing works.

A Robust Deep Model for Classification of Peptic Ulcer and Other Digestive Tract Disorders Using Endoscopic Images.

Accurate patient disease classification and detection through deep-learning (DL) models are increasingly contributing to the area of biomedical imaging. The most frequent gastrointestinal (GI) tract ailments are peptic ulcers and stomach cancer. Conventional endoscopy is a painful and hectic procedure for the patient while Wireless Capsule Endoscopy (WCE) is a useful technology for diagnosing GI problems and doing painless gut imaging. However, there is still a challenge to investigate thousands of images captured during the WCE procedure accurately and efficiently because existing deep models are not scored with significant accuracy on WCE image analysis. So, to prevent emergency conditions among patients, we need an efficient and accurate DL model for real-time analysis. In this study, we propose a reliable and efficient approach for classifying GI tract abnormalities using WCE images by applying a deep Convolutional Neural Network (CNN). For this purpose, we propose a custom CNN architecture named GI Disease-Detection Network (GIDD-Net) that is designed from scratch with relatively few parameters to detect GI tract disorders more accurately and efficiently at a low computational cost. Moreover, our model successfully distinguishes GI disorders by visualizing class activation patterns in the stomach bowls as a heat map. The Kvasir-Capsule image dataset has a significant class imbalance problem, we exploited a synthetic oversampling technique BORDERLINE SMOTE (BL-SMOTE) to evenly distribute the image among the classes to prevent the problem of class imbalance. The proposed model is evaluated against various metrics and achieved the following values for evaluation metrics: 98.9%, 99.8%, 98.9%, 98.9%, 98.8%, and 0.0474 for accuracy, AUC, F1-score, precision, recall, and loss, respectively. From the simulation results, it is noted that the proposed model outperforms other state-of-the-art models in all the evaluation metrics.

Impact of preoperative esophagogastroduodenoscopy in patients undergoing bariatric surgery and development of a model to predict clinically significant abnormal endoscopic findings.

BackgroundPreoperative esophagogastroduodenoscopy (EGD) in patients undergoing bariatric surgery can help surgeons detect abnormalities in the upper gastrointestinal (UGI) tract that may require a change in surgical plan. However, the need for EGD before bariatric surgery is controversial.ObjectivesWe aimed to determine the prevalence of UGI abnormalities and evaluate the predictive factors of abnormal findings that require a change in surgical plan or cause a delay in surgical treatment in patients undergoing bariatric surgery and develop a prediction model.MethodsThe medical records from January 2012 to July 2020 were retrospectively reviewed in patients who underwent EGD before bariatric surgery. The EGD findings were classified into four groups based on their effects on management. Group 1 had normal findings. Group 2 had abnormal findings that did not require a change in surgical management. Group 3 had abnormal findings that required a change in the surgical plan or caused a delay in surgical treatment. Group 4 had contraindications to surgery. Predictive factors for Groups 3 and 4 were analyzed using univariate and multivariate analyses. A model visualized as a nomogram was developed based on significant factors. Discrimination and calibration were evaluated.ResultsA total of 461 patient records (63.8% female) were reviewed. The mean age was 35.1 ± 11.2 years and the mean BMI was 47.7 ± 8.7 kg/m2. The prevalence of endoscopic findings in Groups 1, 2, 3, and 4 were 42.5%, 35.6%, 21.9%, and 0%, respectively. The most common abnormal findings were non-erosive gastritis (31.2%) followed by Helicobacter pylori infection (18.7%) and hiatal hernia (10.2%). Male sex and NSAID use were significantly associated with detection of lesions in Group 3 either on univariate or multivariate analysis, while type 2 diabetes mellitus (T2DM) was a significant protective factor on multivariate analysis. On subgroup analysis in patients ≥ 40 years old, multivariate analysis revealed age, BMI, and NSAID use were significantly associated with the detection of lesions in Group 3, while T2DM was still a significant protective factor. A nomogram to predict lesions in Group 3 for this subgroup was developed and showed good discrimination (C-statistics 0.737, 95% CI 0.721‒0.752).ConclusionA high prevalence of abnormal endoscopic findings was observed in Thai patients who are undergoing bariatric surgery. Preoperative EGD screening is helpful in detecting UGI abnormalities that require a change in the surgical decision plan. The new nomogram may help rational utilization of EGD prior to bariatric surgery.Graphical abstract Supplementary InformationThe online version contains supplementary material available at 10.1007/s00464-022-09391-8.

P173 Endoscopic findings in the upper gastrointestinal tract in Crohn’s Disease – highly specific and closely related to Helicobacter pylori negative gastritis

Abstract Background Scientific data indicates that in the course of Crohn’s disease (CD), certain endoscopic abnormalities in the upper gastrointestinal tract (UGIT), such as bamboo joint-like appearance (BJA) in the stomach, may be frequently present. However, there are not many clinical analyses available, in which prevalence of various endoscopic UGIT lesions would be comprehensively evaluated. The purpose of the study was to investigate the characteristic of UGIT involvement in CD, with a particular focus on the Helicobacter pylori (Hp) status, BJA lesions and presence of microscopic changes in the stomach. Methods A total of 565 consecutive patients were prospectively recruited into the study (98 with CD and 467 controls). All individuals underwent upper esophagogastroduodenoscopy (EGD) with biopsy using a high definition endoscope with narrow band image. Chi-square and t-student tests were used for statistical analysis. Results The majority of CD patients (n=77; 79%) were found to have different abnormalities in EGD. Most commonly these were found in the stomach (n = 73; 74%), followed by duodenum (n= 39; 40%) and oesophagus (n=6; 6%). Mucosal redness/edema, BJA in the proximal part of the body and/or fundus, as well as antral erosions were the most prevalent gastric lesions. BJA was present in 44 (45%) of CD patients, and in one individual from the control group (0.002%), p&amp;lt;0.00001. BJA presence among CD patients was irrespective of sex, age, location, duration, intensity or course of the disease, as well as medications taken. Ulcerations and erosions were most commonly found lesions in the duodenum. Most of the CD patients were Hp negative (n = 94; 95.9%), while in the control group the majority of individuals were infected with Hp (57,1%), p&amp;lt;0.0001. Comparison between Hp negative patients with CD and controls revealed that gastric BJA lesions, duodenal ulcers and erosions were present exclusively in CD. These lesions were accompanied by chronic microscopic gastritis in all cases. Finally, the prevalence of microscopic HP negative gastritis was significantly higher in patients with CD than in controls (95.7% vs 15%, p&amp;lt;0.0002). Conclusion Our results demonstrated that chronic Hp negative gastritis is present in nearly all CD patients, and is strongly associated with presence of gastric BJA lesions, as well as ulcerations and erosions of the duodenum. Furthermore, the results of our study support previously reported observations that BJA is a specific lesion for CD and may be used as an endoscopic diagnostic marker. This work was financed by the Program of the Minister of Science and Higher Education - “Regional Initiative of Excellence” in 2019–2022, no. 002/RID/2018/19.

A rare presentation of gastrointestinal stromal tumor arising from a meckel's diverticulum: A case report

The most common congenital gastrointestinal tract abnormality is Meckel's diverticulum, affecting 1% to 2% of the population. Meckel's diverticulum can sometimes house a gastrointestinal stromal tumor (GIST), which is a rare malignant tumor. A 63-year-old man presented with occult melena. It turns out to be a GIST developing from Meckel's diverticulum after an exploratory laparotomy. Occult melena is one of the causes of unexplained and intractable anemia. Every family and general physician should keep in mind the possibility of occult blood loss via the gastrointestinal tract when treating the patient.

Diagnostic d’une maladie inflammatoire rare et sévère de l’intestin chez un nourrisson présentant des ulcérations péri-orificielles

We report the case of an infant aged 8 and a half months, who had an apparent life-threatening event and died despite optimal resuscitation management. The medical history was marked by mild symptoms, mainly feeding difficulties and progressively settling skin lesions. Parents were related (first cousins) and the patient had two healthy older sisters. Autopsy showed growth delay, symmetrical erythematous and ulcerated periorificial lesions associated with punctiform erythematous lesions of the face and alopecia. Microscopic examination revealed deep bronchial inhalation with the onset of infectious pneumopathy, major inflammatory ulceration of the gastrointestinal tract, hepatic steatosis, brain stem and pancreas abnormalities. We conclude that the cause of death was a multi-visceral failure with inhalation pneumopathy, in a context of very early onset inflammatory bowel disease (VEO-IBD). Genetic consultation, into a rare disease reference center, allowed to orient the analysis, to identify a homozygous pathogenic variant in the IL10RA gene, confirming the diagnostic of an autosomal recessive very early onset inflammatory bowel disease (inflammatory bowel disease 28, early-onset, autosomal recessive, #613148).

Gastroenterology and liver disease during COVID-19 and in anticipation of post-COVID-19 era: Current practice and future directions.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has emerged as a major threat to global public health. The virus causes the clinical syndrome known as coronavirus disease 2019 (COVID-19), in which multiple organs can get affected. Apart from manifestations of the respiratory system, which predominate, its clinical presentation is frequently accompanied by symptoms of the gastro-intestinal (GI) tract and liver abnormalities. The correlation of symptoms and abnormalities with disease severity is discussed, leading to ambiguous results from international literature. Moreover, the disease infects patients with co-existing liver and GI disorders affecting both their health status and the availability of healthcare services provided to them. The risk of transmission of the disease during aerosol-generating procedures has changed the diagnostic approach and follow-up algorithms for liver and GI diseases. For the safety of both doctors and patients, telemedicine and distant evaluation have become everyday practice, whereas several routines and emergency visits at outpatient and emergency departments have been postponed or delayed. Vaccination against SARS-CoV-2 is underway, providing hope to humanity and the expectation that the post-COVID-19 era is near. This review aims to update knowledge about the manifestations of COVID-19 related to liver and GI diseases and the effect of the pandemic on the diagnostic and therapeutic procedures for these diseases with a special focus on how current practices have changed and what changes will possibly remain in the future.

Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13

BackgroundWolfram syndrome (WFS) is characterized by deafness, diabetes mellitus, and diabetes insipidus along with optic atrophy. WFS has an autosomal recessive mode of inheritance and is due to variants in WFS1 and CISD2.MethodsWe evaluated the underlying molecular etiology of three affected members of a consanguineous family with hearing impairment, bicuspid aortic valve, diabetes mellitus and insipidus, clinodactyly, and gastrointestinal tract abnormalities via exome sequencing approach. We correlated clinical and imaging data with the genetic findings and their associated phenotypes.ResultsWe identified a homozygous missense variant p.(Asn1097Lys) in CDK13, a gene previously associated with autosomal dominant congenital heart defects, dysmorphic facial features, clinodactyly, gastrointestinal tract abnormalities, intellectual developmental disorder, and seizures with variable phenotypic features.ConclusionWe report a homozygous variant in CDK13 and suggest that this gene causes an autosomal recessive disorder with hearing impairment, bicuspid aortic valve, diabetes mellitus and insipidus, clinodactyly, and gastrointestinal tract abnormalities.