Extraintestinal Findings Research Articles

Diagnostic Role of Multi-Detector Computed Tomography in Acute Mesenteric Ischemia.

Mesenteric ischemia diagnosis is challenging, with an overall mortality of up to 50% of cases despite advances in treatment. The main problem that affects the outcome is delayed diagnosis because of non-specific clinical presentation. Multi-Detector CT Angiography (MDCTA) is the first-line investigation for the suspected diagnosis of vascular abdominal pathologies and the diagnostic test of choice in suspected mesenteric bowel ischemia. MDCTA can accurately detect the presence of arterial and venous thrombosis, determine the extent and the gastrointestinal tract involved, and provide detailed information determining the subtype and the stage progression of the diseases, helping clinicians and surgeons with appropriate management. CT (Computed Tomography) can differentiate forms that are still susceptible to pharmacological or interventional treatment (NOM = non-operative management) from advanced disease with transmural necrosis in which a surgical approach is required. Knowledge of CT imaging patterns and corresponding vascular pathways is mandatory in emergency settings to reach a prompt and accurate diagnosis. The aims of this paper are 1. to provide technical information about the optimal CTA (CT Angiography) protocol; 2. to explain the CTA arterial and venous supply to the gastrointestinal tract and the relevant ischemic pattern; and 3. to describe vascular, bowel, and extraintestinal CT findings for the diagnosis of acute mesenteric ischemia.

CT and MR Enterography in the Evaluation of Celiac Disease.

Celiac disease is a common inflammatory disease of the small bowel that induces mucosal intestinal lesions. The disease is mediated by an immune response and triggered by the ingestion of gluten in genetically predisposed individuals. Gluten contains gliadin, a component found mostly in wheat, barley, and rye. This process leads to gastrointestinal malabsorption with symptoms such as diarrhea, constipation, abdominal pain, and distention. It has a prevalence of 1%-2% in the general adult population, who present with symptoms at any age, but is more frequently found in adult women in the 3rd or 4th decade of life. Recognition of the disease has increased, but it remains a challenge to diagnose. CT and MR enterography are noninvasive studies used for evaluation of small bowel neoplasms and inflammatory small bowel pathologic conditions such as celiac disease. The authors review the spectrum of intestinal and extraintestinal findings of celiac disease at CT and MR enterography, as well as its complications, and the importance of recognizing certain imaging features that help in the diagnosis of celiac disease. More common and specific findings of celiac disease such as inversion of the jejunoileal fold pattern and mesenteric lymphadenopathy are reviewed. More uncommon entities that are more frequently associated with refractory or untreated celiac disease, such as ulcerative jejunoileitis, cavitary mesenteric lymph node syndrome, and malignancies including small bowel adenocarcinoma and lymphoma, are described. ©RSNA, 2024 Test Your Knowledge questions for this article are available in the supplemental material. The slide presentation from the RSNA Annual Meeting is available for this article.

Acute Colonic Diverticulitis: CT Findings, Classifications, and a Proposal of a Structured Reporting Template.

Acute colonic diverticulitis (ACD) is the most common complication of diverticular disease and represents an abdominal emergency. It includes a variety of conditions, extending from localized diverticular inflammation to fecal peritonitis, hence the importance of an accurate diagnosis. Contrast-enhanced computed tomography (CE-CT) plays a pivotal role in the diagnosis due to its high sensitivity, specificity, accuracy, and interobserver agreement. In fact, CE-CT allows alternative diagnoses to be excluded, the inflamed diverticulum to be localized, and complications to be identified. Imaging findings have been reviewed, dividing them into bowel and extra-intestinal wall findings. Moreover, CE-CT allows staging of the disease; the most used classifications of ACD severity are Hinchey's modified and WSES classifications. Differential diagnoses include colon carcinoma, epiploic appendagitis, ischemic colitis, appendicitis, infectious enterocolitis, and inflammatory bowel disease. We propose a structured reporting template to standardize the terminology and improve communication between specialists involved in patient care.

Ustekinumab in enteropathic arthritis.

Objective: The aim of this study was to evaluate the efficacy of ustekinumab in the treatment of enteropathic arthritis. Materials & methods: A systematic literature search was performedin thePubmed database of publications between January 2010 and October 2021. Demographic characteristics, comorbidities, inflammatory bowel disease and enteropathic arthritis symptoms, other extraintestinal findings, medical treatments andclinical and laboratory findings for all cases were recorded. Results: A total of 11 patients were included. While clinical and laboratory remission was achieved in terms of inflammatory bowel disease in all patients and enteropathic arthritis in ninepatients after ustekinumab treatment, other extraintestinal findings for all patients completely regressed aftertreatment. Conclusion: Ustekinumab may be an appropriate treatment option for this patient group, considering both pathogenesis and successful treatment responses.

Factors affecting the development of complications in Crohn's disease in patients undergoing intestinal resection.

Surgery is a common form of management for Crohn disease (CD) in the presence of intra-abdominal complications. In this study, we investigated the effect of various factors on the development of postoperative complications in patients who underwent surgery for complicated CD. Patients who underwent surgery between 2011 and 2018 were included in this study. Information on age, sex, presence of extraintestinal findings, operation indications, operation type, and postoperative complications was obtained. Groups with and without postoperative complications were compared according to body mass index, American Society of Anesthesiologists score, comorbidities, smoking status, preoperative drug use, presence of perianal disease, presence of a stoma, synchronous small intestine resection surgery, duration of hospital stay, and preoperative biochemical parameters. A total of 192 patients were included, of which 53.1% were female and 46.9% were male. Patients were indicated for surgery for reasons such as stricture, abscess, fistula, and tumor development. As the surgical method, patients were operated on by open or laparoscopic method (86% and 14%, respectively). Postoperative complications occurred in 30 female and 33 male patients (15.6% and 17.1%, respectively). Patient age, smoking status, steroid use, perianal disease, presence of stoma, and presence of extra intestinal findings were significantly higher in the complicated group. Surgery may be inevitable for CD in the presence of complications. In cases of patient age, smoking, steroid use, perianal disease, stoma opening, and presence of extra intestinal findings, patients with CD who undergo surgery should be followed up closely in terms of the development of complications.

P868 Clinical features of chronic enteropathy associated with SLCO2A1 gene

Abstract Background Chronic enteropathy associated with the SLCO2A1 gene (CEAS) is a hereditary disease caused by mutations of the SLCO2A1 gene which encodes a prostaglandin transporter. This disease is rare and intractable characterized by persistent blood and protein loss. There are few reports from Europe, and most reports are from Asian countries such as South Korea, China, and Japan. Because CEAS and Crohn's disease (CD) present ileal ulcers and stenoses, it is often difficult to distinguish CEAS from CD. Evaluation of characteristic upper gastrointestinal lesions observed in CEAS and extraintestinal findings, such as digital clubbing, periostosis, and pachydermia, can trigger suspicion of this disease, and genetic testing can be performed to confirm the diagnosis. Since little is known about the clinical features of CEAS, we conducted a nationwide survey in Japan. Methods All study participants provided written informed consent for genetic analysis. The present study was approved by the ethics committee of each institution. During the period between 2012 and 2022, 188 patients suspected of CEAS were enrolled in this study and checked to have SLCO2A1 gene mutations. We reviewed the clinical information of genetically confirmed CEAS patients. Results We confirmed the genetic analysis of 69 CEAS patients (24 males and 45 females) and found 19 different types of SLCO2A1 mutations. The median age at disease onset and diagnosis was 19 (range 1-69) and 42 (range 7-70) years, respectively. Parental consanguinity was present in 19 patients (26%). Although anaemia was present in almost all patients, only two patients experienced gross haematochezia. The median haemoglobin and serum total protein levels at diagnosis were 9.7 (range 2.3-14.4) and 5.3 (2.7-8.2) g/dl, respectively. Thirty-seven patients (54%) had undergone intestinal surgery. The most frequently involved gastrointestinal site was the ileum (94%), but the terminal ileum was rarely involved (4%). The lesions were shallow ulcers, varying in shape from circular, oblique, to longitudinal, sometimes forming pseudodiverticulum or luminal stenosis. The Gastric lesions were observed in 15 patients (22%) and duodenal lesions in 30 patients (43%). 20 patients (30%) had either mild digital clubbing, periostosis, or pachydermia. The extraintestinal findings, were more frequently found in males than in females (digital clubbing 52% vs 9%; periostosis 50% vs 10%; pachydermia 57% vs 0%). Conclusion Examination of the clinical features of CEAS reveals that ileal lesions are uniform and characteristic, but clinical features are diverse. Thirty per cent of patients with CEAS have extraintestinal features. There is a significant gender difference in extraintestinal features in CEAS patients.

Abdominal X-Ray Findings of Patients With Crohn's Disease Presenting With Acute Abdominal Pain.

The primary objective of this study is to describe the most common radiological findings found on abdominal X-rays of patients with Crohn's disease (CD) presenting with acute abdominal pain. A cross-sectional study was conducted at a tertiary care hospital in Riyadh. Data from CD patients who presented with acute abdominal pain between December 2016 and December 2021 was analyzed. A total of 144 abdominal X-rays met the inclusion and exclusion criteria and were included in the study. The medical records of patients who had the X-rays were subsequently reviewed for the presence or absence of follow-up imaging studies. Of the 144 abdominal X-ray studies, 54 (37.5%) had positive findings, while 90 (62.5%) were unremarkable. The most common category of findings was small bowel findings (32.6%), acute complications (32.6%), followed by extraintestinal findings (2.7%), and colonic findings (1.35%). About 29.2% of the abdominal X-rays had subsequent follow-up imaging done. The multivariate logistic binary regression analysis demonstrated that males had an odds ratio of 2.25 of undergoing follow-up imaging compared to females (p = 0.049). The non-specific findings found on the majority of the abdominal X-rays may indicate that it is of limited diagnostic value in this patient population. However, they play an integral role in ruling out acute complications in CD patients presenting with abdominal pain and exhibiting disease activity.

Knowledge regarding celiac disease among healthcare professionals, patients and their caregivers in Turkey.

Celiac disease (CD) is one of the most prevalent chronic disorders. The clinical manifestations of CD are diverse and may present with gastrointestinal findings, extra-intestinal findings or no symptoms. Although there has been a marked increase in the prevalence of CD in the past 30 years, up to 95% of patients with CD remain undiagnosed. As most cases have atypical signs or no symptoms, the diagnosis of CD is either missed or delayed. In addition, one of the most important reasons for the delay in diagnosis may be the poor knowledge of healthcare professionals (HCPs) regarding CD. To evaluate the knowledge of HCPs, patients and their caregivers (parents) regarding CD. The current study was carried out between June 2021 and February 2022 prospectively, as part of the Focus IN CD project. Patients with CD and their caregivers participated in the study from 6 different cities in Turkey. General practitioners, pediatricians, pediatricians with other subspecialities and pediatric gastroenterologists from different cities participated in the study. The questionnaire was completed by 348 HCPs, 34 patients with CD, and 102 mothers and 34 fathers of patients with CD. Most of the participants were general practitioners (37.07%). There were 89 (25.57%) pediatricians and 72 (20.69%) pediatric gastroenterologists in the study. The highest score in all categories was achieved by pediatric gastroenterologists. There were significant differences between the four groups of HCPs in terms of the subsections of overall mean score, epidemiology and clinical presentation, treatment and follow-up. No significant difference was found between the groups (patients with CD, mothers of patients with CD and fathers of patients with CD) in terms of the questionnaire subsections. The level of knowledge on CD among HCPs, patients and their caregivers was unsatisfactory. We consider that it is necessary to increase awareness and to develop e-learning activities on CD among HCPs, patients and their caregivers. Consequently, they may benefit from e-learning programs similar to the one created as part of the EU-funded project Focus IN CD (https://www.celiacfacts.eu/focusincd-en).

Overview of the Large Bowel Assessment using Magnetic Resonance Imaging: Different Techniques for Current and Emerging Clinical Applications.

Radiological assessments of the small and large bowel are essential in daily clinical practice. Over X-ray plain films and ultrasound, cross-sectional techniques are considered the most comprehensive imaging modalities. "Cross-sectional techniques" refers to CT and MRI, as stated in the following sentence. In fact, computed tomography and magnetic resonance imaging take great advantage of the three-dimensional appraisal and the extensive evaluation of the abdominal cavity, allowing intestinal evaluation as well as detection of extra-intestinal findings. In this context, the chief advantage of computed tomography is the fast scan time, which is crucial for emergency cases. Nonetheless, it is undeniably impaired using ionizing radiation. As the awareness of radiation exposure is a topic of increasing importance, magnetic resonance imaging is not only becoming a mere alternative but also a primary imaging technique used in assessing intestinal diseases. Specifically, the evaluation of the large bowel through MRI can still be considered relatively uncharted territory. Although it has demonstrated superior accuracy in the assessment of some clinical entities from inflammatory bowel disease to rectal carcinoma, its role needs to be consolidated in many other conditions. Moreover, different technical methods can be applied for colonic evaluation depending on the specific disease and segment involved. This article aims to provide a thorough overview of the techniques that can be utilized in the evaluation of the large bowel and a discussion on the major findings in different colonic pathologies of primary interest.

Positioning intestinal ultrasound in a UK tertiary centre: significant estimated clinical role and cost savings

ObjectiveIntestinal ultrasound (IUS) is an inexpensive, non-invasive method of diagnosing and monitoring inflammatory bowel disease (IBD). We aimed to establish the proportion of lower gastrointestinal endoscopies (LGIEs) and magnetic resonance...

Buzdağının görünmeyen yüzü: Ekstraintestinal Bulgular ve Çölyak Hastalığı

Aim: Clinical manifestations of celiac disease (CD) can be quite different and varying. The number of CDs presenting with atypical symptoms is increasing day by day. Hence, we aimed to determine how many patients with CD were atypical celiac through examining their admission complaints, clinical characteristics, laboratory results, endoscopic findings, and pathological findings. 
 Material and Methods: Eighty-nine patients with CD aged over 18 years who were followed-up in Ankara Kecioren Training and Research Hospital Internal Medicine Clinic between 2007 and 2014 were included in the study. The files of the patients were reviewed retrospectively. Sex, age, hospital admission complaints, clinical characteristics, laboratory results, endoscopy findings, and pathology results of the patients were recorded.
 Results: The median age of the patients in the study was 36, and 68.5% of them were female. The most common symptoms of the patients were fatigue (49.4%), anorexia (33.7%), and dyspepsia (22.5%), while diarrhea (19.1%), which is among the classical symptoms, was less common. 7.8% of the patients had no complaints at the time of admission, whereas 47.1% of them had only extraintestinal symptoms. At admission, 47% of the patients had anemia, 73.4% had iron deficiency, and 55.4% of them had vitamin B12 deficiency. When hemoglobin, ferritin, and vitamin B12 levels were compared before and after a gluten-free diet, a significant increase was determined. Transaminase elevation was detected in 25.3% of our patients at the time of diagnosis. When pre-treatment and post-treatment values were compared, a significant decrease was determined in those with high transaminase levels. In the pre-treatment serological test results of the patients, Ig A EMA positivity was the most common finding with a rate of 90.2%, followed by IgG EMA with 88.9%. In terms of pre-treatment endoscopy findings, 50.2% of our patients had normal appearance, 25.4% had a mosaic pattern, 12.6% had effacement of the duodenal folds, 12.6% had a nodular appearance, and 9.5% had a scalloping of the duodenal folds. When the pathology results of our patients were examined, 83.4% of them were at the advanced stage and with Marsh Type 3. 
 Conclusion: CD may present with atypical complaints such as extraintestinal findings, as in more than half of the patients in this study. Celiac disease should be taken into consideration, particularly in conditions such as iron deficiency, osteoporosis, and transaminase elevations, which are prevalent in the community. The prevalence of CD in our country is estimated to be around 1-2%; however, it is considered that there are more asymptomatic patients with atypical celiac disease. When diagnosing CD, the most crucial step is to consider the potential presence of CD during pre-diagnoses. Thus, CD should be included in the differential diagnosis, specifically in patients presenting with atypical symptoms.

GRAFT VERSUS HOST DISEASE IN AUTOLOGOUS STEM CELL TRANSPLANT: AN UNCOMMON ENTITY

Identify in literature the graft versus host disease (GVHD) incidence after autologous hematopoietic stem cell transplantation (HSCT). We searched the PubMed database using a broad search strategy to identify studies related to GVHD complication after autologous stem cell transplant. The primary search was conducted using the terms: “GVHD in autologous transplant”, and publication date less than 5 years. 91 free full articles were identified, but 7 were better related to the purpose of the study. Two articles present cases of gastrointestinal tract (GIT) GVHD in recipients of autologous HSCT. Two patients with multiple myeloma had GVHD and the clinical and endoscopic presentations were distinct. Another patient developed severe acute GVHD 93 days post autologous HSCT for Hodgkin's lymphoma. PET and CT findings included characteristic patterns of bowel inflammation with bowel wall thickening, mural stratification, and enhancement with high FDG-uptake of the involved regions, as well as typical extra intestinal findings such as ascites, engorgement of the vasa recti and stranding of the mesenteric fat. A case report of membranous nephropathy succeeding autologous HSCT described that this is a rarely entity (3% post-autologous vs . 97% post-allogeneic HSCT). In autologous HSCT populations, there have been reports of associated glomerular disease, because of any type of immune dysregulation. Based on literature, 6% of all patients with glomerulonephritis after HCT had received Autologous transplants. And the last case report presents a 4-year-old girl with metastatic neuroblastoma who spontaneously developed AGVHD after autologous HSCT. One article said the risk of GVHD in an autologous transplant is zero and the last one related the skin cancer with the delayed immune recovery and persistent immunodeficiency in GVHD. GVHD following stem cell transplantation (SCT) is a common complication in patients that have undergone allogenic SCT but rare in recipients of autologous SCT. With the emergence of autologous HSCT, GVHD and its complications were expected to be eliminated. However, autologous GVHD has been described in some patients, and your prophylaxis mainly consists of post-transplant administration of immunosuppressive drugs and may impair the post-transplant immunologic reconstitution. After the sixth month, immune recovery occurs progressively towards complete recovery, but GVHD may develop. In chronic case, patients with only liver and skin involvement have a better prognosis. Patients with extensive involvement of multiple organs the prognosis may be poor. Recent studies have indicated that two major factors are necessary for the induction of autologous GVHD: the first factor was a disruption of thymic-dependent immune reconstitution and the second one was a failure to reestablish peripheral self-tolerance. On another hand, autologous GVHD has been thought of as an autoimmune syndrome and a milder form of GVHD than its counterpart in allogeneic transplantation, the presence of autoantibodies in relation to the HSCT provides evidence for the involvement of the B cell. The difficulty of finding articles related to the study shows GVHD in autologous HSCT is an uncommon entity, but although this fact, these cases are important to further the understanding of the various presentation of this manifestation and be awake to the possibilities of differential diagnoses.

P241 Gastrointestinal ultrasound instead of magnetic resonance enterography: Large potential cost savings with limited clinical downsides

Abstract Background Gastrointestinal ultrasound (GIUS) is a non-invasive imaging modality capable of detecting intestinal inflammation & associated complications. It has comparable sensitivity & specificity to magnetic resonance enterography (MRE) in detecting ileocolonic disease, however it is less expensive (£24 vs £180) & can be performed at point of care. We aimed to establish the proportion of MREs that could have been performed as GIUS at a tertiary inflammatory bowel disease (IBD) unit, the potential cost savings, & the predicted pathology miss-rates. Methods All MREs performed in January 2018 were retrospectively reviewed. Demographics, scan indication, IBD characteristics, surgical history, & gastrointestinal & non-gastrointestinal findings were collected. Indications deemed suitable for GIUS included: assessment of disease activity of known small bowel (SB) Crohn’s disease; first assessment for presence of SB disease in IBD; & investigation for SB disease in patients without a known diagnosis of IBD. Obesity, complicated surgical history (>1 resection or strictureplasty involving different segments, or stoma), & known proximal SB disease were deemed unsuitable. Results 105 MREs were performed in January 2018. 59 (56%) were deemed suitable for GIUS instead of MRE. Most common reasons for unsuitability included complex surgical history (n=17, 37%), obesity (n=14, 30%), non-appropriate indication (n=12, 26%) & known upper gastrointestinal disease (n=10, 22%). Of suitable cases, 32/59 (54%) had active inflammation detected including 17 (53%) isolated ileal, 8 (25%) ileocolonic, & 6 (19%) isolated colonic. In one case performed as first assessment for SB disease, both ileal & jejunal disease were found, the latter likely to be missed with GIUS. No cases of isolated upper gastrointestinal inflammation were found. Regarding non-gastrointestinal findings in potential GIUS patients, there were two cases of pancreatic cysts necessitating further investigation with serial MRIs & endoscopic ultrasound, yielding a side branch intraductal papillary mucinous neoplasm & a benign serous cyst adenoma. One case of multiple high T2 skeletal lesions was deemed clinically insignificant following further investigations. No other significant extra-intestinal findings not expected to be seen on GIUS were identified. Conclusion Over 50% of MREs could have been performed as GIUS instead, with a potential annual cost saving of over £110,000. No instances of inflammation would have been missed based on distribution, although in one case the full extent of disease may not have been identified on GIUS. Incidental non-gastrointestinal findings resulted in multiple investigations but were of limited clinical significance.

Diagnostic role of computed tomography enterography (CTE) in assessment of intra-mural and extra-intestinal CT findings in active Crohn\u2019s disease (CD)

BackgroundCrohn’s disease (CD) is a ruinous bowel disease, which, if left uncured, leads to penetrating bowel complications. Computed tomography enterography (CTE) is nowadays accepted as a principal modality for the assessment of small bowel diseases. The aim of this study is to assess the role of CT enterography in the identification of intramural as well as extra-intestinal CT changes yielding more thorough data about the level and severity of the disease process thus planning appropriate treatment strategy.ResultsFrom March 2017 to January 2019, 50 patients in Cairo, Egypt, who had clinical manifestations of inflammatory bowel disease, were evaluated by MDCTE. CT image analysis was processed, including anatomical localization of bowel segments affection, assessment of mucosal thickening and hyper-enhancement, and extra-enteric affection. Diagnosis of Crohn’s disease (CD) was confirmed by endoscopy and histopathology; mucosal thickening was seen in 42 patients (84%), mucosal hyper-enhancement was seen in 44 patients (88%) while engorgement of vasa recta (comb’s sign) was seen in 38 patients (76%).ConclusionAlthough ileocolonoscopy is a proven sensitive method to detect mucosal injury and diagnose disease activity, it is limited by its maximal extent and inability to detect transmural complications as well as limited ability to assess deep bowel wall involvement. CT enterography (CTE) is a valuable technique in diagnostic evaluation of intramural and extra-intestinal involvement in Crohn’s disease (CD) during disease activity.

Prevalence and clinical significance of incidental extra-intestinal findings in MR enterography: experience of a single University Centre.

To determine the incidence and clinical relevance of extra-intestinal incidental findings (IF) in a cohort of patients with proven or suspected Crohn disease (CD) examined with magnetic resonance enterography (MR-E) in a single University Centre. Between January 2018 and June 2019, 182 patients with proven or suspected CD with a planned first MR-E examination, were retrospectively included in this study. Incidental findings were considered as any abnormality identified in the absence of previous clinically suspected or known disease. IF were categorized as unremarkable, benign or potentially relevant findings requiring further imaging or specific treatment. Of the 182 revised MR-E, extra-intestinal IF were recorded in 70 cases (38.5%); 35 (50%) incidental lesions were recognized as non-significant, 24 (34%) as benign and 11 (16%) as clinically relevant. Moreover, there was a positive correlation between IF and patients' age (p < 0.0001). In our experience, a high number of IF (38.5%) was found, with a prevalence that increases with patients' age. Clinically relevant findings were found in 16% of MR-E. This means that MR-E is a useful tool to detect IF, therefore, the presence of a radiologist during the image acquisition is crucial in adding sequences to the examination.

Malrotación intestinal, cuadro agudo en paciente adulto

Introducción: El síndrome de Malrotación Intestinal (MI) es un trastorno anatómico producido por una rotación y fijación anómala del intestino medio en la cavidad abdominal durante el período embrionario. Existen 3 variantes subdivididas de acuerdo a sus hallazgos. El 90% se diagnostica en pacientes pediátricos con clínica de abdomen agudo obstructivo sin embargo en pacientes adultos se asocian síntomas crónicos que evidencian malnutrición y rara vez con un cuadro agudo únicamente. El vólvulo y una inadecuada respuesta al tratamiento clínico constituyen una urgencia quirúrgica por el riesgo de necrosis extensa. El tránsito intestinal es el gold estándar para su diagnóstico y la tomografía se puede considerar como complementario de apoyo para definir hallazgos extraintestinales.&#x0D; Objetivo: Describir un caso clínico de malrotación intestinal con cuadro agudo en un paciente adulto.&#x0D; Material y métodos: Estudio descriptivo retrospectivo, presentación de caso clínico&#x0D; Resultados: Se trata de un paciente masculino de 39 años sin antecedentes de interés que acude por cuadro de 24 horas de evolución caracterizado por distensión más dolor abdominal tipo cólico en epigastrio y marco colónico, de gran intensidad asociado a vómitos por 15 ocasiones de contenido alimentario y posterior bilioso con ruidos disminuidos y mate a la percusión difusa, se realiza Rx de abdomen evidenciándose niveles hidroaéreos, distensión de asas intestinales y válvulas conniventes visibles, se determina abdomen agudo obstructivo se coloca enema evacuante y sonda nasogástrica con producción inicial de 450ml y logrando canalizar flatos sin embargo a las 24 y 48 horas con producciones de 300ml/día por lo que se realiza tomografía que revela asas distendidas con contenido líquido y gaseoso y desplazamiento de las mismas hacia la derecha por lo que con tórpida evolución clínica se decide laparotomía a las 72 horas encontrándose ciego y colon ascendente sin fijación, asas yeyunales en bolsa peritoneal, ángulo de Treitz en hipocondrio derecho, asas yeyunales distendidas desde 40 centímetros de ángulo de Treitz hasta 180 centímetros hacia distal por lo que se cataloga como SMI tipo III A y B. Por íleo postquirúrgico con producciones elevadas en SNG se inicia NPT, que con adecuada evolución clínica se retira y se reinicia tolerancia a dieta progresiva que con paciente asintomático se prescribe el alta.&#x0D; Conclusiones: La mal rotación intestinal en adultos como causa de obstrucción intestinal suele ser infrecuente al igual que un cuadro agudo; y con mala evolución a medidas clínicas su tratamiento es quirúrgico.

POTENTIAL IDENTIFICATION OF PREVIOUSLY UNRECOGNIZED GARDNER SYNDROME DURING RADIOLOGIC EXAMINATION: A CASE REPORT

<h3>Background</h3> Familial adenomatous polyposis coli (FAP) is an autosomal dominant inherited disorder characterized by the development of multiple colonic adenomas with high risk for malignant transformation. FAP is caused by mutation of the adenomatous polyposis coli (APC) gene, a tumor suppressor. Several <i>APC</i> codon mutations result in a spectrum of intra- and extra-colonic manifestations. Gardner syndrome is a subset of FAP with potential extraintestinal findings, including epidermoid and sebaceous cysts, lipomas, supernumerary and impacted teeth, odontomas, jaw osteomas, and desmoid tumors/desmoplastic fibromas. Desmoplastic fibromas are benign aggressive neoplasms with potential tissue morbidity. <h3>Discussion/Conclusions</h3> A 15-year-old Caucasian male was referred to the oral and maxillofacial radiology clinic for radiologic evaluation of a left posterior mandibular radiolucency. The patient complained of pain at the site. His medical and dental histories was positive for biopsy of multiple epidermoid cysts, a fibrous tissue mass on the lower back, and 2 odontomas. Thus far, the patient had not been identified to be at risk for Gardner syndrome. Panoramic and cone beam computed tomography (CBCT) radiographs were made and showed nonuniform hyperdensities throughout the jaws, impacted teeth, and a well-defined, multilocular, radiolucent lesion at the angle of the left mandible demonstrating expansion. Impressions favored a benign aggressive entity of the left mandibular angle, and biopsy was recommended. The biopsy results were consistent with desmoplastic fibroma. Surgical resection was performed. Based on the collective findings, the diagnosis of Gardner syndrome was proposed. The patient was referred for genetic counselling and genetic testing for himself and his immediate family members. The results of molecular diagnosis are pending. Identification of FAP-related clinical and radiographic manifestations is crucial to early identification of FAP, which has important considerations in periodic evaluation for colon neoplasms and surgical prophylaxis. Early referral by an attentive radiologist can increase the opportunity for more effective disease management.

The retinal foveal avascular zone as a systemic biomarker to evaluate inflammatory bowel disease control

BackgroundInflammatory bowel disease (IBD) is a systemic inflammatory disease and is classified as Crohn’s disease (CD) or ulcerative colitis (UC) depending on the extent of gastrointestinal tract involvement. IBD can be associated with extraintestinal findings, such as fever, weight loss, arthralgia, and mucocutaneous lesions, as well as hepatic, renal and ophthalmological involvement. Clinical parameters and colonoscopy are used to establish the criteria for controlled or non-controlled disease and subsequent definition of treatment. Our objective in the present study was to compare the area of the foveal avascular zone (FAZ) in patients with a diagnosis of IBD during remission and active disease.Methods144 eyes of 72 patients with IBD were evaluated via a complete ophthalmological exam. Fundus photography and optical coherence tomography/angiography (OCT/OCTA) were performed with a Topcon Triton. The macula and posterior pole were evaluated by binocular indirect ophthalmoscopy and fundus biomicroscopy. The area of the FAZ was determined via manual delimitation of superficial retinal vascular layers from OCTA with image6.net software. To establish disease activity, we considered the Mayo Score, fecal calprotectin levels, colonoscopy results and clinical parameters. All retinal parameters were evaluated in a blinded manner. Means were compared between groups using the Mann–Whitney test.ResultsThe participants had a mean age of 42.26 years and included 28 males (38.88%) and 44 females (61.11%). Among the participants, 37 had a diagnosis of CD (51.38%), and 35 had a diagnosis of UC (48.61%). Twenty-five patients (34.72%) had active disease, and 47 (65.27%) were in remission. The area of the FAZ did not differ significantly between the CD and UC groups (p = 0.91 for the right eye and p = 0.76 for the left eye) but did differ significantly between the remission and active disease groups (p = 0.01 for the right eye and p = 0.02 for the left eye).DiscussionOur study is the first to evaluate the area of the FAZ in patients with IBD via swept-source OCTA. The area of the FAZ did not differ significantly in either eye between the CD and UC groups. However, patients classified as having active disease according to clinical parameters and colonoscopy presented a significant decrease in the area of the FAZ compared with patients in remission. The area of the FAZ is an ophthalmological parameter that can be obtained non-invasively and is increased in ischemic diseases such as diabetic retinopathy. The FAZ may decrease due to vascular engorgement or increased systemic inflammation. This parameter can be used to help determine whether a patient is in remission or active IBD, thus potentially reducing the need for invasive exams during disease follow-up.

Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience.

Multiple monogenic disorders present as very early onset inflammatory bowel disease (VEO-IBD) or as IBD with severe and atypical features. Establishing a genetic diagnosis may change patients' management and prognosis. In this study, we describe the diagnostic approach to suspected monogenic IBD in a real clinical setting, discussing genetic and phenotypic findings and therapeutic implications of molecular diagnosis. Information of patients with VEO-IBD and early onset IBD with severe/atypical phenotypes (EO-IBD s/a) managed between 2008-2017 who underwent a genetic workup were collected. Ninety-three patients were included, and 12 (13%) reached a genetic diagnosis. Candidate sequencing (CS) was performed in 47 patients (50%), and next generation sequencing (NGS) was performed in 84 patients (90%). Candidate sequencing had a good diagnostic performance only when guided by clinical features specific for known monogenic diseases, whereas NGS helped finding new causative genetic variants and would have anticipated one monogenic diagnosis (XIAP) and consequent bone marrow transplant (BMT). Patients with monogenic IBD more frequently were male (92% vs 54%; P = 0.02), had extraintestinal findings (100% vs 34%; P < 0.001), and had disease onset ≤1 month of life (25% vs 1%; P = 0.006). Genetic diagnosis impacted patient management in 11 patients (92%), 7 of whom underwent BMT. A genetic diagnosis can be established in a significant proportion of suspected monogenic IBD and has an impact on patients' management. Candidate sequencing may be deployed when clinical findings orientate toward a specific diagnosis. Next generation sequencing should be preferred in patients with nonspecific phenotypes.

Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations.

Familial adenomatous polyposis (FAP) is a rare genetic disorder with autosomal dominant inheritance, defined by numerous adenomatous polyps, which inevitably progress to colorectal carcinoma unless detected and managed early. Greater than 70% of patients with this syndrome also develop extraintestinal manifestations, such as multiple osteomas, dental abnormalities, and a variety of other lesions located throughout the body. These manifestations have historically been subcategorized as Gardner syndrome, Turcot syndrome, or gastric adenocarcinoma and proximal polyposis of the stomach. Recent studies, however, correlate the severity of gastrointestinal disease and the prominence of extraintestinal findings to specific mutations within the adenomatous polyposis coli gene (APC), supporting a spectrum of disease as opposed to subcategorization. Advances in immunohistochemical and molecular techniques shed new light on the origin, classification, and progression risk of different entities associated with FAP. To provide a comprehensive clinicopathologic review of neoplastic and nonneoplastic entities associated with FAP syndrome, with emphasis on recent developments in immunohistochemical and molecular profiles of extraintestinal manifestations in the thyroid, skin, soft tissue, bone, central nervous system, liver, and pancreas, and the subsequent changes in classification schemes and risk stratification. This review will be based on peer-reviewed literature and the authors' experiences. In this review we will provide an update on the clinicopathologic manifestations, immunohistochemical profiles, molecular features, and prognosis of entities seen in FAP, with a focus on routine recognition and appropriate workup of extraintestinal manifestations.