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Cureus Apr 2024Pseudoglucagonoma syndrome is defined as the presence of necrolytic migratory erythema in the absence of a glucagon-secreting tumor. Necrolytic migratory erythema is the...
Pseudoglucagonoma syndrome is defined as the presence of necrolytic migratory erythema in the absence of a glucagon-secreting tumor. Necrolytic migratory erythema is the hallmark of glucagonoma syndrome but can also occur due to pancreatitis, pancreatic insufficiency, gastrointestinal dysfunction, inflammatory bowel disease, celiac disease, malabsorption disorders, nutritional deficiencies, hepatocellular dysfunction, and hypoalbuminemia. Pseudoglucagonoma syndrome is extremely rare, and the diagnosis is often delayed, resulting in delayed treatment. We report a rare case of pseudoglucagonoma syndrome in a malnourished male patient following Frey's surgery. The patient presented with a skin rash which gradually progressed over 20 days with diffuse hair loss. On cutaneous examination, multiple irregular erythematous and eroded plaques surrounded by a hyperpigmented scaly border were present over the dorsal aspect of the lower limbs, upper limbs, gluteal region, and genitals. Routine investigations showed normocytic normochromic anemia, neutropenia, lymphocytosis, dyslipidemia, and hypoalbuminemia. Rapid resolution of the skin lesions was observed with improved nutrition.
PubMed: 38738007
DOI: 10.7759/cureus.58076 -
Life Science Alliance Jul 2024Celiac disease (CD) is an autoimmune enteropathy resulting from an interaction between diet, genome, and immunity. Although many patients respond to a gluten-free diet,...
Celiac disease (CD) is an autoimmune enteropathy resulting from an interaction between diet, genome, and immunity. Although many patients respond to a gluten-free diet, in a substantive number of individuals, the intestinal injury persists. Thus, other factors might amplify the ongoing inflammation. is a commensal fungus that is well adapted to the intestinal life. However, specific conditions increase pathogenicity. The hypothesis that may be a trigger in CD has been proposed after the observation of similarity between a fungal wall component and two CD-related gliadin T-cell epitopes. However, despite being implicated in intestinal disorders, may also protect against immune pathologies highlighting a more intriguing role in the gut. Herein, we postulated that a state of chronic inflammation associated with microbial dysbiosis and leaky gut are favorable conditions that promote pathogenicity eventually contributing to CD pathology via a mast cells (MC)-IL-9 axis. However, the restoration of immune and microbial homeostasis promotes a beneficial -MC cross-talk favoring the attenuation of CD pathology to alleviate CD pathology and symptoms.
Topics: Celiac Disease; Humans; Homeostasis; Candida albicans; Mast Cells; Gastrointestinal Microbiome; Dysbiosis; Candidiasis; Animals; Candida; Intestinal Mucosa
PubMed: 38719750
DOI: 10.26508/lsa.202302441 -
Revista Da Associacao Medica Brasileira... 2024Various studies have reported that certain long non-coding RNA levels are unusually low in the intestines of celiac disease patients, suggesting that this may be...
OBJECTIVE
Various studies have reported that certain long non-coding RNA levels are unusually low in the intestines of celiac disease patients, suggesting that this may be associated with the inflammation observed in celiac disease. Despite these studies, the research aimed at uncovering the potential role of long non-coding RNAs in the pathogenesis of autoimmune diseases like celiac disease remains insufficient. Therefore, in this study, we plan to assess long non-coding RNA polymorphisms associated with autoimmunity in children diagnosed with celiac disease according to the European Society for Paediatric Gastroenterology Hepatology and Nutrition criteria.
METHODS
DNA was isolated from paraffin tissue samples of 88 pediatric celiac disease patients and 74 healthy pediatric individuals. Single-nucleotide polymorphism genotyping of five long non-coding RNA polymorphisms associated with autoimmunity (LINC01934-rs1018326, IL18RAP-rs917997, AP002954.4-rs10892258, UQCRC2P1-rs6441961, and HCG14 rs3135316) was conducted using the TaqMan single-nucleotide polymorphism genotyping assays with the LightCycler 480.
RESULTS
In our study, the genotypic and allelic frequency distribution of LINC01934-rs1018326 and AP002954.4-rs10892258 polymorphisms was found to be statistically significant in the comparison between the two groups (p<0.05). According to the multiple genetic model analyses, the LINC01934-rs1018326 polymorphism was observed to confer a 1.14-fold risk in the recessive model and a 1.2-fold risk in the additive model for pediatric celiac disease. Similarly, the AP002954.4-rs10892258 polymorphism was found to pose a 1.40-fold risk in the dominant model and a 1.7-fold risk in the additive model.
CONCLUSION
Our study results draw attention to the LINC01934-rs1018326 and AP002954.4-rs10892258 polymorphisms in celiac disease and suggest that these polymorphisms may be associated with inflammation in autoimmune diseases like celiac disease.
Topics: Humans; Celiac Disease; RNA, Long Noncoding; Case-Control Studies; Child; Polymorphism, Single Nucleotide; Female; Male; Genetic Predisposition to Disease; Autoimmunity; Child, Preschool; Genotype; Gene Frequency; Adolescent
PubMed: 38716950
DOI: 10.1590/1806-9282.20231490 -
Revista Da Associacao Medica Brasileira... 2024We aimed to examine the effect of remission status on thiol-disulfide homeostasis in celiac patients and thus to indirectly determine the effect of oxidative stress and... (Randomized Controlled Trial)
Randomized Controlled Trial
OBJECTIVE
We aimed to examine the effect of remission status on thiol-disulfide homeostasis in celiac patients and thus to indirectly determine the effect of oxidative stress and inflammation caused by non-compliance with the diet.
METHODS
Between February 2019 and December 2021, 117 patients diagnosed with celiac disease were included in this prospective randomized and controlled study. In addition to routine tests of celiac patients, thiol and disulfide measurements were made from the blood both at the beginning of the study and at the end of the first year.
RESULTS
While 52 of the patients (44.4%) were in remission, 65 patients (55.6%) were not. There was an evident increase in native thiol levels of the patients who were initially not in remission but went into at the end of the first year (347.4±46.7 μmol/L vs. 365.3±44.0 μmol/L; p=0.001). Mean plasma disulfide levels of patients with celiac going into remission became reduced in the first year from the level of 14.5±5.1 μmol/L down to 8.9±4.2 μmol/L (p<0.001). In celiac patients who entered remission, disulfide and anti-tissue transglutaminase immunoglobulin A levels decreased in a correlation (r=0.526; p<0.001).
CONCLUSION
Not being in remission in celiac disease leads to increased oxidative stress, and thiol-disulfide homeostasis is an indirect indicator of this. Additionally, providing remission in celiac patients reduces oxidative stress.
Topics: Humans; Celiac Disease; Oxidative Stress; Female; Male; Disulfides; Prospective Studies; Sulfhydryl Compounds; Adult; Diet, Gluten-Free; Patient Compliance; Remission Induction; Young Adult; Adolescent; Middle Aged; Immunoglobulin A; Transglutaminases
PubMed: 38716937
DOI: 10.1590/1806-9282.20231120 -
Frontiers in Immunology 2024Being defined as an autoimmune, chronic pathology, frequently encountered in any age group, but especially in pediatrics, celiac disease (also called gluten... (Review)
Review
Being defined as an autoimmune, chronic pathology, frequently encountered in any age group, but especially in pediatrics, celiac disease (also called gluten enteropathy), is gaining more and more ground in terms of diagnosis, but also interest in research. The data from the literature of the last decades attest the chameleonic way of its presentation, there may be both classic onset symptoms and atypical symptoms. Given the impact played by celiac disease, especially in the optimal growth and development of children, the current narrative review aims to highlight the atypical presentation methods, intended to guide the clinician towards the inclusion of the pathology in the differential diagnosis scheme. To these we add the summary presentation of the general data and therapeutic lines regarding the underlying condition and the existing comorbidities. In order to place the related information up to date, we performed a literature review of the recent articles published in international databases. We bring forward the current theories and approaches regarding both classic celiac disease and its atypical manifestations. Among these we note mainly constitutional, skin or mucous, bone, neuro-psychic, renal, reproductive injuries, but also disorders of biological constants and association with multiple autoimmunities. Knowing and correlating them with celiac disease is the key to optimal management of patients, thus reducing the subsequent burden of the disease.
Topics: Celiac Disease; Humans; Child; Diagnosis, Differential
PubMed: 38715620
DOI: 10.3389/fimmu.2024.1390755 -
PloS One 2024Celiac disease exhibits a higher prevalence among patients with coronavirus disease 2019. However, the potential influence of COVID-19 on celiac disease remains...
Celiac disease exhibits a higher prevalence among patients with coronavirus disease 2019. However, the potential influence of COVID-19 on celiac disease remains uncertain. Considering the significant association between gut microbiota alterations, COVID-19 and celiac disease, the two-step Mendelian randomization method was employed to investigate the genetic causality between COVID-19 and celiac disease, with gut microbiota as the potential mediators. We employed the genome-wide association study to select genetic instrumental variables associated with the exposure. Subsequently, these variables were utilized to evaluate the impact of COVID-19 on the risk of celiac disease and its potential influence on gut microbiota. Employing a two-step Mendelian randomization approach enabled the examination of potential causal relationships, encompassing: 1) the effects of COVID-19 infection, hospitalized COVID-19 and critical COVID-19 on the risk of celiac disease; 2) the influence of gut microbiota on celiac disease; and 3) the mediating impact of the gut microbiota between COVID-19 and the risk of celiac disease. Our findings revealed a significant association between critical COVID-19 and an elevated risk of celiac disease (inverse variance weighted [IVW]: P = 0.035). Furthermore, we observed an inverse correlation between critical COVID-19 and the abundance of Victivallaceae (IVW: P = 0.045). Notably, an increased Victivallaceae abundance exhibits a protective effect against the risk of celiac disease (IVW: P = 0.016). In conclusion, our analysis provides genetic evidence supporting the causal connection between critical COVID-19 and lower Victivallaceae abundance, thereby increasing the risk of celiac disease.
Topics: Celiac Disease; COVID-19; Humans; Mendelian Randomization Analysis; Gastrointestinal Microbiome; Genome-Wide Association Study; SARS-CoV-2
PubMed: 38701071
DOI: 10.1371/journal.pone.0301998 -
Redox Biology Jul 2024In this study, we observed worsening metabolic crosstalk in mouse models with concomitant metabolic disorders such as hyperhomocysteinemia (HHcy), hyperlipidemia, and...
In this study, we observed worsening metabolic crosstalk in mouse models with concomitant metabolic disorders such as hyperhomocysteinemia (HHcy), hyperlipidemia, and hyperglycemia and in human coronary artery disease by analyzing metabolic profiles. We found that HHcy worsening is most sensitive to other metabolic disorders. To identify metabolic genes and metabolites responsible for the worsening metabolic crosstalk, we examined mRNA levels of 324 metabolic genes in Hcy, glucose-related and lipid metabolic systems. We examined Hcy-metabolites (Hcy, SAH and SAM) by LS-ESI-MS/MS in 6 organs (heart, liver, brain, lung, spleen, and kidney) from C57BL/6J mice. Through linear regression analysis of Hcy-metabolites and metabolic gene mRNA levels, we discovered that SAH-responsive genes were responsible for most metabolic changes and all metabolic crosstalk mediated by Serine, Taurine, and G3P. SAH-responsive genes worsen glucose metabolism and cause upper glycolysis activation and lower glycolysis suppression, indicative of the accumulation of glucose/glycogen and G3P, Serine synthesis inhibition, and ATP depletion. Insufficient Serine due to negative correlation of PHGDH with SAH concentration may inhibit the folate cycle and transsulfurarion pathway and consequential reduced antioxidant power, including glutathione, taurine, NADPH, and NAD. Additionally, we identified SAH-activated pathological TG loop as the consequence of increased fatty acid (FA) uptake, FA β-oxidation and Ac-CoA production along with lysosomal damage. We concluded that HHcy is most responsive to other metabolic changes in concomitant metabolic disorders and mediates worsening metabolic crosstalk mainly via SAH-responsive genes, that organ-specific Hcy metabolism determines organ-specific worsening metabolic reprogramming, and that SAH, acetyl-CoA, Serine and Taurine are critical metabolites mediating worsening metabolic crosstalk, redox disturbance, hypomethylation and hyperacetylation linking worsening metabolic reprogramming in metabolic syndrome.
Topics: Animals; Mice; Humans; Metabolic Syndrome; Male; Disease Models, Animal; Hyperhomocysteinemia; Mice, Inbred C57BL; Glucose; Metabolome; Metabolomics; Metabolic Networks and Pathways
PubMed: 38696898
DOI: 10.1016/j.redox.2024.103139 -
Journal of Surgical Case Reports Apr 2024The diagnosis of hypocalcemia-induced tetany following a total thyroidectomy is not common. However, there is a higher risk in patients with a history of gastric bypass...
The diagnosis of hypocalcemia-induced tetany following a total thyroidectomy is not common. However, there is a higher risk in patients with a history of gastric bypass surgery due to their malabsorption condition. This case describes postoperative hungry bone syndrome resulting from chronic malabsorption in a patient with a history of bariatric surgery. It is important to consider alternative treatment options if the initial management proves ineffective. Typically, this is a temporary condition, but it's crucial to prioritize prevention in high-risk patients by providing perioperative calcium and vitamin D supplementation.
PubMed: 38681485
DOI: 10.1093/jscr/rjae031 -
The Journal of Tehran Heart Center Oct 2023Adjusting the exact warfarin dose has always been challenging since it has a narrow therapeutic window. Numerous factors, including poor drug compliance, drug-drug...
Adjusting the exact warfarin dose has always been challenging since it has a narrow therapeutic window. Numerous factors, including poor drug compliance, drug-drug interactions, and malabsorption syndromes, affect the warfarin plasma concentration, leading to oversensitivity or resistance to warfarin. Patients who need more than 15 mg/d of warfarin for maintained anticoagulant effects are considered warfarin resistant. We describe a 62-year-old man referred to our center with bruising on his feet in June 2021. The patient had a history of valve replacement (mechanical prosthetic valves in 2013), hypothyroidism, and atrial fibrillation. He presented with warfarin resistance (first noticed in 2013) and did not reach the desired warfarin therapeutic effect despite receiving 60 mg of warfarin daily. Upon admission, the patient was on warfarin (100 mg/d) with an international normalized ratio (INR) of 1.5. He underwent laboratory and molecular genetic tests, which showed no mutation in the CYP2C9 and VKORC1, the genes associated with warfarin resistance. A stepwise diagnosis is required to identify the underlying cause. Assessing the patient's compliance, drug history, dietary habits, malabsorption diseases, and genetics may be necessary. We evaluated these possible reasons for resistance and found no correlation. The patient's warfarin intake was monitored closely to reach the INR therapeutic target of 3-3.5. He decided to leave the hospital with personal consent. He was discharged with a cardiologist referral and 24 warfarin tablets daily (120 mg/d) with an INR of 1.8. The patient was followed up 6 months and 2 years after discharge and was on the same daily dose of warfarin as at discharge, with no complications.
PubMed: 38680643
DOI: 10.18502/jthc.v18i4.14831 -
Nutrients Apr 2024We report on a group of patients with gluten sensitivity with and without coeliac disease presenting with unexplained sensory symptoms in the absence of structural...
UNLABELLED
We report on a group of patients with gluten sensitivity with and without coeliac disease presenting with unexplained sensory symptoms in the absence of structural pathology.
METHODS
The patients were selected from the gluten neurology clinic based at the Royal Hallamshire Hospital, Sheffield, UK, on the basis of sensory symptoms but normal neuroaxis imaging and peripheral nerve evaluation.
RESULTS
A total of 30 patients were identified with a mean age at presentation of 47 years. The prevalence of enteropathy was 78%. The sensory disturbance was characterised by tingling at 50%, numbness at 27%, pain at 20%, burning at 13% and "buzzing" feeling at 7%. The distribution of the sensory symptoms included hands and feet in 27% of the patients, torso in 27%, legs only in 23%, face in 17% and arms only in 10%. For five patients, the sensory disturbance was migratory and affected different parts of the body at any given time. After the introduction of a gluten-free diet, 77% of patients noted significant improvement in their sensory symptoms. In one-third of the patients, there was a complete resolution of the sensory symptoms.
CONCLUSION
Unexplained sensory symptoms can be seen in patients with gluten sensitivity and respond to strict adherence to a gluten-free diet.
Topics: Humans; Middle Aged; Male; Female; Diet, Gluten-Free; Celiac Disease; Glutens; Adult; Aged; Sensation Disorders; Young Adult
PubMed: 38674899
DOI: 10.3390/nu16081209