Gastrointestinal Symptoms in Marfan Syndrome and Hypermobile Ehlers-Danlos Syndrome.

Objective: Marfan syndrome (MS) is a multisystem disorder caused by a mutation in FBN1 gene. It shares some phenotypic features with hypermobile Ehlers-Danlos syndrome (EDS) such as joint hypermobility. EDS is a group of inherited heterogenous multisystem disorders characterized by skin hyperextensibility, atrophic scarring, joint hypermobility, and generalized tissue fragility. Hypermobile EDS (hEDS) is thought to be the most common type. Recent studies have suggested an association between connective tissue hypermobility and functional gastrointestinal disorders (FGDs). The aim of this study is to determine the prevalence of gastrointestinal symptoms in patients with Marfan syndrome and hypermobile EDS. Method: Patients with a diagnosis of either MS or hEDS attending cardiology or rheumatology outpatients at our hospital were asked to complete SF36 RAND and Rome IV Diagnostic questionnaires. Questionnaires were also completed by patients who are members of Marfan Association UK. The same questionnaires were also completed by age- and gender-matched controls attending fracture clinic without existing diagnoses of MS or hEDS. Results: Data were collected from 45 MS patients (12 males and 33 females, age range 19-41 years, mean 28 years) and 45 hEDS patients (6 males and 39 females, age range 18-32 years, mean 24 years). None had a previous organic gastrointestinal diagnosis. The control group was matched for age and sex (18 males and 72 females, age range 18-45, mean 29 years). Both MS and hEDS groups showed a higher prevalence of abdominal symptoms compared to the control group; however, the hEDS group not only showed a higher prevalence but more frequent and severe symptoms meeting Rome IV criteria for diagnosis of FGIDs. Nearly half of the hEDS patients met the criteria for more than one FGID. The hEDS group also scored lower on quality of life (QOL) scores in comparison to either of the other groups with a mean score of 48.6 as compared to 54.2 in the Marfan group and 78.6 in the control group. Conclusion: FGIDs are reported in both Marfan syndrome and hypermobile Ehlers-Danlos syndrome but appear to be more common and severe in hEDS. These patients score lower on quality of life scores as well despite hypermobility being a common feature of both conditions. Further work is needed to understand the impact of connective tissue disorders on gastrointestinal symptoms

Impact of gender identity in the inflammatory bowel disease population: an evidence review and practical steps for gastroenterologists

There has been greater societal awareness of differences in gender identity and sexual orientation in recent years. The rates of identifying as transgender or gender non-conforming (TGNC) are increasing and are known to be higher in the younger population and will therefore be over-represented in the inflammatory bowel disease (IBD) subpopulation. However, despite this there is very little in the literature with regards to those who identify as TGNC and are diagnosed with IBD (TGNC-IBD). Many TGNC individuals have poor experiences when seeking healthcare and many physicians find it a challenging and daunting clinical situation to be faced with. We reviewed the available literature with regards to TGNC-IBD population demographics, physical, mental and sexual health considerations, medication interactions and implications for surgery in this heterogenous group. We have identified areas that need further research and suggested simple and practical steps that can be adopted in order to help healthcare providers improve the experience for TGNC individuals diagnosed with IBD and the quality of care they provide

Using clinical cases to guide healthcare.

Evidence-based practice (EBP) has been the gold standard in healthcare for nearly three centuries and aims to assist physicians in providing the safest and most effective healthcare for their patients. The well-established hierarchy of evidence lists systematic reviews and meta-analyses at the top however these methodologies are not always appropriate or possible and in these instances case-control studies, case series and case reports are utilised to support EBP. Case-control studies allow simultaneous study of multiple risk factors and can be performed rapidly and relatively cheaply. A recent example was during the Coronavirus pandemic where case-control studies were used to assess the efficacy of personal protective equipment for healthcare workers. Case series and case reports also play a role in EBP and are particularly useful to study rare diseases such as inflammatory bowel disease in transgender and gender non-conforming individuals. They are also vital in generating and disseminating early signals and encouraging further research. Whilst these methodologies have weaknesses, particularly with regards to bias and loss of patient confidentiality for rare pathologies, they have an important part to play in EBP and when appropriately utilised can significantly impact upon clinical practice

Optical Imaging Technology In Colonoscopy - Is There A Role For Photometric Stereo

AbstractColonoscopy screening for the detection and removal of colonic adenomas is central to efforts to reduce the morbidity and mortality of colorectal cancer. However, up to a third of adenomas may be missed at colonoscopy, and the majority of post-colonoscopy colorectal cancers are thought to arise from these. Adenomas have three-dimensional surface topographic features that differentiate them from adjacent normal mucosa. However, these topographic features are not enhanced by white light colonoscopy, and the endoscopist must infer these from two-dimensional cues. This may contribute to the number of missed lesions. A variety of optical imaging technologies have been developed commercially to enhance surface topography. However, existing techniques enhance surface topography indirectly, and in two dimensions, and the evidence does not wholly support their use in routine clinical practice. In this narrative review, co-authored by gastroenterologists and engineers, we summarise the evidence for the impact of established optical imaging technologies on adenoma detection rate, and review the development of photometric stereo (PS) for colonoscopy. PS is a machine vision technique able to capture a dense array of surface normals to render three-dimensional reconstructions of surface topography. This imaging technique has several potential clinical applications in colonoscopy, including adenoma detection, polyp classification, and facilitating polypectomy, an inherently three-dimensional task. However, the development of PS for colonoscopy is at an early stage. We consider the progress that has been made with PS to date and identify the obstacles that need to be overcome prior to clinical application

Minimally invasive treatment of patients with bronchobiliary fistula: a case series

<p>Abstract</p> <p>Introduction</p> <p>Bronchobiliary fistula is an uncommon complication secondary to hepatobiliary surgery. Bilioptysis is a pathognomic finding for bronchobiliary fistulas. Diagnosis may be easily established in the light of clinical history, which can be aided by imaging studies to pinpoint the exact location. Some diagnostic procedures such as endoscopic retrograde cholangiopancreatectomy are also useful for treatment.</p> <p>Case presentation</p> <p>We present three Turkish patients with bronchobiliary fistula secondary to previous hepatic surgery due to hydatid cyst in two, a 19-year-old and a 47-year-old man, and iatrogenic trauma of the common bile duct by endoscopy in a 35-year-old man. All of the patients were successfully treated by minimally invasive methods including percutaneous drainage and endoscopic retrograde cholangiopancreatography.</p> <p>Conclusion</p> <p>We suggest that bronchobiliary fistula could be managed through conservative treatment methods which do not require in-hospital follow-up, particularly in uncomplicated cases. Otherwise, surgical management can be unavoidable.</p

Carbohydrate Intake in the Etiology of Crohn's Disease and Ulcerative Colitis

Background: Diet may have a role in the etiology of inflammatory bowel disease. In previous studies, the associations between increased intakes of carbohydrates, sugar, starch, and inflammatory bowel disease are inconsistent. However, few prospective studies have investigated the associations between these macronutrients and incident Crohn's disease (CD) or ulcerative colitis (UC). Methods: A total of 401,326 men and women were recruited between 1991 and 1998. At recruitment, dietary intakes of carbohydrate, sugar, and starch were measured using validated food frequency questionnaires. The cohort was monitored identifying participants who developed incident CD or UC. Cases were matched with 4 controls, and odds ratios were calculated for quintiles of total carbohydrate, sugar, and starch intakes adjusted for total energy intake, body mass index, and smoking. Results: One hundred ten participants developed CD, and 244 participants developed UC during follow-up. The adjusted odds ratio for the highest versus the lowest quintiles of total carbohydrate intake for CD was 0.87, 95% CI = 0.24 to 3.12 and for UC 1.46, 95% CI = 0.62 to 3.46, with no significant trends across quintiles for either (CD, Ptrend = 0.70; UC, Ptrend = 0.41). Similarly, no associations were observed with intakes of total sugar (CD, Ptrend = 0.50; UC, Ptrend = 0.71) or starch (CD, Ptrend = 0.69; UC, Ptrend = 0.17). Conclusions: The lack of associations with these nutrients is in agreement with many case–control studies that have not identified associations with CD or UC. As there is biological plausibility for how specific carbohydrates could have an etiological role in inflammatory bowel disease, future epidemiological work should assess individual carbohydrates, although there does not seem to be a macronutrient effect

Low serum transferrin levels in HFE C282Y homozygous subjects are associated with low CD8(+) T lymphocyte numbers.

Blood Cells Mol Dis. 2005 Nov-Dec;35(3):319-25. Epub 2005 Sep 1. Low serum transferrin levels in HFE C282Y homozygous subjects are associated with low CD8(+) T lymphocyte numbers. Macedo MF, Cruz E, Lacerda R, Porto G, de Sousa M. SourceDivision of Human Genetics and Genetic Disorders, Iron Genes and the Immune System Laboratory, Institute for Molecular and Cell Biology (IBMC), Oporto, Portugal. Abstract Hereditary hemochromatosis (HH) is a genetic iron overload disease, in the majority of cases associated with homozygosity for the C282Y mutation of the HFE gene. In spite of this genetic homogeneity, there is a great clinical heterogeneity among HH patients. Low CD8(+) lymphocyte numbers have been associated with a more severe expression of iron overload in HH patients, and in experimental models of iron overload. HH patients present low serum transferrin levels. Transferrin is an indispensable resource for lymphopoiesis. Lymphocyte homeostasis follows general ecology rules of population dynamics that involve competition for limiting resources. In the present study, we questioned whether transferrin levels could be associated with the anomalies seen previously in lymphocyte subset numbers in HH patients. Transferrin levels, total and subset T lymphocyte counts were done in 426 apparently healthy subjects genotyped for HFE. All HFE C282Y carriers presented significantly lower serum transferrin levels than the wild type group, a difference that could not be explained solely by the degree of iron overload. Significant differences were also seen in transferrin levels between males and females, with females presenting higher average serum Transferrin levels. In the population of subjects with Transferrin levels lower than 248 mg/dl, a positive correlation was seen between the peripheral CD8(+) lymphocyte numbers and serum transferrin levels (R(2) = 2.41; r = 0.16; P = 0.018). To test the possible limiting resource effect of transferrin, the correlation between transferrin levels and CD8(+) lymphocyte numbers was scrutinized in 34 HH patients, homozygous for the C282Y mutation. In the homozygous males, where the lowest average transferrin levels were seen, another highly significant correlation was observed between Transferrin levels and CD8(+) numbers. This correlation points to a possible role of transferrin as a limiting resource for MHC class I dependent lymphocyte proliferation, an effect that was not observed in C282Y homozygous female patients. PMID: 16140024 [PubMed - indexed for MEDLINE