scholarly journals Immunogenetic, Molecular and Microbiotic Determinants of Eosinophilic Esophagitis and Clinical Practice—A New Perspective of an Old Disease

2021 ◽  
Vol 22 (19) ◽  
pp. 10830
Author(s):  
Alina Kanikowska ◽  
Szymon Hryhorowicz ◽  
Anna Maria Rychter ◽  
Marcin A. Kucharski ◽  
Agnieszka Zawada ◽  
...  

Eosinophilic oesophagitis (EoE) is a chronic, allergic disease associated with a T-lymphocyte response inducing esophageal eosinophilic infiltration in the esophagus. Inflammation and tissue fibrosis are responsible for the main clinical symptoms such as food impaction and dysphagia. The etiopathogenesis is multifactorial in which genetic and environmental factors coexist. The most common trigger is a non-IgE-mediated food allergy to milk, wheat, egg, soybean, nuts, fish, and seafood. The second factor we focus on is the contribution of genetic variation to the risk of EoE, describing the expression profile of selected genes associated with eosinophilic oesophagitis. We raise the topic of treatment, aiming to eliminate inflammation through an elimination diet and/or use of pharmacologic therapy with the use of proton pump inhibitors or steroids and endoscopic procedures to dilate the esophagus. We demonstrate that early diagnosis and effective treatment prevent the development of food impaction and decreased quality of life. The increasing presence of EoE requires bigger awareness among medical specialists concerning clinical features, the course of EoE, diagnostic tools, and management strategies.

Medicina ◽  
2021 ◽  
Vol 57 (11) ◽  
pp. 1245
Author(s):  
Dorota Myszkowska ◽  
Barbara Zapała ◽  
Małgorzata Bulanda ◽  
Ewa Czarnobilska

The diagnosis of food intolerance is tricky due to the different etiologies of adverse reactions. There is also a lack of clear rules for interpreting alternative tests used to diagnose these problems. The analyses of IgG4 concentration in serum or cytotoxic tests became the basis of elimination diets. However, it can result in nutritional deficiencies and loss of tolerance to eliminated foods. Our study aimed to assess the necessity of food elimination in four cases with food intolerance symptoms based on alternative diagnostic tests. Four patients without food allergies, who manifested diverse clinical symptoms after food, were presented due to the following factors: clinical history, diagnostic tests, elimination diet, and filaggrin gene (FLG) mutation. It was found that higher IgG4 levels against foods and higher cytotoxic test values are not clinically relevant in each of the studied individuals. They should not be decisive for the elimination of food products. The study of FLG-SNVs revealed the association of some clinical symptoms in patients with hypersensitivity to several food allergens and reported genetic variants in the FLG gene.


2021 ◽  
Vol 43 (2) ◽  
pp. 900-916
Author(s):  
Anna Zubrzycka ◽  
Monika Migdalska-Sęk ◽  
Sławomir Jędrzejczyk ◽  
Ewa Brzeziańska-Lasota

Endometriosis is a chronic gynecological disease defined by the presence of endometrial-like tissue found outside the uterus, most commonly in the peritoneal cavity. Endometriosis lesions are heterogenous but usually contain endometrial stromal cells and epithelial glands, immune cell infiltrates and are vascularized and innervated by nerves. The complex etiopathogenesis and heterogenity of the clinical symptoms, as well as the lack of a specific non-invasive diagnostic biomarkers, underline the need for more advanced diagnostic tools. Unfortunately, the contribution of environmental, hormonal and immunological factors in the disease etiology is insufficient, and the contribution of genetic/epigenetic factors is still fragmentary. Therefore, there is a need for more focused study on the molecular mechanisms of endometriosis and non-invasive diagnostic monitoring systems. MicroRNAs (miRNAs) demonstrate high stability and tissue specificity and play a significant role in modulating a range of molecular pathways, and hence may be suitable diagnostic biomarkers for the origin and development of endometriosis. Of these, the most frequently studied are those related to endometriosis, including those involved in epithelial–mesenchymal transition (EMT), whose expression is altered in plasma or endometriotic lesion biopsies; however, the results are ambiguous. Specific miRNAs expressed in endometriosis may serve as diagnostics markers with prognostic value, and they have been proposed as molecular targets for treatment. The aim of this review is to present selected miRNAs associated with EMT known to have experimentally confirmed significance, and discuss their utility as biomarkers in endometriosis.


Author(s):  
Christoph Bettag ◽  
Christian von der Brelie ◽  
Florian Baptist Freimann ◽  
Ulrich-Wilhelm Thomale ◽  
Veit Rohde ◽  
...  

AbstractDiagnosis of symptomatic valve malfunction in hydrocephalic patients treated with VP-Shunt (VPS) might be difficult. Clinical symptoms such as headache or nausea are nonspecific, hence cerebrospinal fluid (CSF) over- or underdrainage can only be suspected but not proven. Knowledge concerning valve malfunction is still limited. We aim to provide data on the flow characteristics of explanted shunt valves in patients with suspected valve malfunction. An in vitro shunt laboratory setup was used to analyze the explanted valves under conditions similar to those in an implanted VPS. The differential pressure (DP) of the valve was adjusted stepwise to 20, 10, 6, and 4 cmH2O. The flow rate of the explanted and the regular flow rate of an identical reference valve were evaluated at the respective DPs. Twelve valves of different types (Codman CertasPlus valve n = 3, Miethke Shuntassistant valve n = 4, Codman Hakim programmable valve n = 3, DP component of Miethke proGAV 2.0 valve n = 2) from eight hydrocephalic patients (four male), in whom valve malfunction was assumed between 2016 and 2017, were replaced with a new valve. Four patients suffered from idiopathic normal pressure (iNPH), three patients from malresorptive and one patient from obstructive hydrocephalus. Post-hoc analysis revealed a significant difference (p < 0.001) of the flow rate between each explanted valve and their corresponding reference valve, at each DP. In all patients, significant alterations of flow rates were demonstrated, verifying a valve malfunction, which could not be objectified by the diagnostic tools used in the clinical routine. In cases with obscure clinical VPS insufficiency, valve deficiency should be considered.


Neurosurgery ◽  
2004 ◽  
Vol 55 (1) ◽  
pp. 119-128 ◽  
Author(s):  
Makoto Nakamura ◽  
Florian Roser ◽  
Sharham Mirzai ◽  
Cordula Matthies ◽  
Peter Vorkapic ◽  
...  

Abstract OBJECTIVE: Meningiomas arising primarily within the internal auditory canal (IAC) are notably rare. By far the most common tumors that are encountered in this region are neuromas. We report a series of eight patients with meningiomas of the IAC, analyzing the clinical presentations, surgical management strategies, and clinical outcomes. METHODS: The charts of the patients, including histories and audiograms, imaging studies, surgical records, discharge letters, histological records, and follow-up records, were reviewed. RESULTS: One thousand eight hundred meningiomas were operated on between 1978 and 2002 at the Neurosurgical Department of Nordstadt Hospital. Among them, there were 421 cerebellopontine angle meningiomas; 7 of these (1.7% of cerebellopontine angle meningiomas) were limited to the IAC. One additional patient underwent surgery at the Neurosurgical Department of the International Neuroscience Institute, where a total of 21 cerebellopontine angle meningiomas were treated surgically from 2001 to 2003. As a comparison, the incidence of intrameatal vestibular schwannomas during the same period, 1978 to 2002, was 168 of 2400 (7%). There were five women and three men, and the mean age was 49.3 years (range, 27–59 yr). Most patients had signs and symptoms of vestibulocochlear nerve disturbance at presentation. One patient had sought treatment previously for total hearing loss before surgery. No patient had a facial paresis at presentation. The neuroradiological workup revealed a homogeneously contrast-enhancing tumor on magnetic resonance imaging in all patients with hypointense or isointense signal intensity on T1- and T2-weighted images. Some intrameatal meningiomas showed broad attachment, and some showed a dural tail at the porus. In all patients, the tumor was removed through the lateral suboccipital retrosigmoid approach with drilling of the posterior wall of the IAC. Total removal was achieved in all cases. Severe infiltration of the facial and vestibulocochlear nerve was encountered in two patients. There was no operative mortality. Hearing was preserved in five of seven patients; one patient was deaf before surgery. Postoperative facial weakness was encountered temporarily in one patient. CONCLUSION: Although intrameatal meningiomas are quite rare, they must be considered in the differential diagnosis of intrameatal mass lesions. The clinical symptoms are very similar to those of vestibular schwannomas. A radiological differentiation from vestibular schwannomas is not always possible. Surgical removal of intrameatal meningiomas should aim at wide excision, including involved dura and bone, to prevent recurrences. The variation in the anatomy of the faciocochlear nerve bundle in relation to the tumor has to be kept in mind, and preservation of these structures should be the goal in every case.


2019 ◽  
Vol 55 ◽  
pp. 10-17 ◽  
Author(s):  
Angela V. Spalatro ◽  
Federico Amianto ◽  
Zirui Huang ◽  
Federico D’Agata ◽  
Mauro Bergui ◽  
...  

AbstractBackground:Despite the great number of resting state functional connectivity studies on Eating Disorders (ED), no biomarkers could be detected yet. Therefore, we here focus on a different measure of resting state activity that is neuronal variability. The objective of this study was to investigate neuronal variability in the resting state of women with ED and to correlate possible differences with clinical and psychopathological indices.Methods:58 women respectively 25 with Anorexia Nervosa (AN), 16 with Bulimia Nervosa (BN) and 17 matched healthy controls (CN) were enrolled for the study. All participants were tested with a battery of psychometric tests and underwent a functional Magnetic Resonance Imaging (fMRI) resting state scanning. We investigated topographical patterns of variability measured by the Standard Deviation (SD) of the Blood-Oxygen-Level-Dependent (BOLD) signal (as a measure of neuronal variability) in the resting-state and their relationship to clinical and psychopathological indices.Results:Neuronal variability was increased in both anorectic and bulimic subjects specifically in the Ventral Attention Network (VAN) compared to healthy controls. No significant differences were found in the other networks. Significant correlations were found between neuronal variability of VAN and various clinical and psychopathological indices.Conclusions:We here show increased neuronal variability of VAN in ED patients. As the VAN is relevant for switching between endogenous and exogenous stimuli, our results showing increased neuronal variability suggest unstable balance between body attention and attention to external world. These results offer new perspective on the neurobiological basis of ED. Clinical and therapeutic implication will be discussed.


2021 ◽  
Vol 21 (4) ◽  
pp. 210-214
Author(s):  
M.V. Pshenichnov ◽  

Diabetes is a severe chronic disease that significantly affects the quality of life of individuals, their families, and society worldwide. Diabetic retinopathy, particularly diabetic macular edema (DME), is the leading cause of blindness and low vision among adults of working age in developed countries and Russia. A recent multimodal approach to diagnose DME resulted in new classifications of this disorder and slightly modified earlier views. The analysis of DME biomarkers allows for selecting management strategies for each patient, prescribing adequate medical treatment, and predicting potential treatment response. This paper aimed to analyze published data and up-to-date diagnostic approaches to DME. These tools provide a correct therapeutic strategy based on the DME pattern. Keywords: diabetic macular edema, optical coherence tomography, anti-VEGF treatment. For citation: Pshenichnov M.V. Current multimodal diagnostic tools for diabetic macular edema to select a management strategy. Russian Journal of Clinical Ophthalmology. 2021;21(4):210–214 (in Russ.). DOI: 10.32364/2311-7729-2021-21-4-210-214.


2020 ◽  
pp. 66-71
Author(s):  
Solaf Jawhar Ali

An widespread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in December 2019 has occurred worldwide.  Public health agencies are in need of developing diagnostic tools which will have a major impact in tracking the virus and suppressing the transmission. Diagnosis of the disease is based on clinical symptoms, epidemiological history and laboratory examinations. Severe acute respiratory diseases with fever and ,cough and dyspnea, are used as the case definition to select people for testing. Different samples taken from the human body such as oropharyngeal (OP) and nasopharyngeal (NP) swabs are used to detect the virus. SARS-CoV-2 can be detected with different methods in the laboratory including real time RT-PCR, chest CT scan and immunoassays. Viral nucleic acid testing has played important role in control COVIDI-19 outbreak.  More recently, a new CRISPR-based DETECTR assay has been developed to detect COVID-19. This test is rapid (~30 min), low-cost, and precise for identification of SARS-CoV-2. In addition, immunoassays and medical imaging can use as supplementary tests, combined with RT-PCR. This review is conducted to summarizes the current information on the present diagnostic approaches for SARS-CoV-2.


Author(s):  
Ole D. Wolthers

Background: Several compositions for determination of specific molecular components in allergens have recently been patented. The role of Molecular Allergy (MA) diagnostics in suspected IgE mediated allergic conditions is currently debated. Guideline reports have concluded that population- based studies involving evaluation of the usefulness of MA diagnostics are needed. Objective: To evaluate the usefulness of MA diagnostics in a secondary pediatric referral center. Methods: A total of 961 children and adolescents aged 0.2-18.8 (mean 7.0) years was included in a prospective observational survey. Inclusion criterion was a suspected diagnosis of an IgE mediated condition based on history and clinical symptoms and signs. If a specific diagnosis could not be reached from conventional investigations suspected peanut allergy, birch pollen allergy and associated crossreactivity, insect allergy and triggering allergens for specific immunotherapy were assessed by MA diagnostics. Results: Based on conventional work-up a diagnostic conclusion was established in 946 patients (98.4%). MA diagnostics were performed in 15 individuals (1.6%), 7 girls and 8 boys aged 3.2 to 17.8 (mean 10.6) years. In 8 cases a specific diagnosis was established based on MA diagnostics; in 7 cases MA diagnostics could not improve diagnosis. MA were most frequently (N = 7 (14%)) used in children with peanut allergy (N = 50). Conclusions: Most patients in a secondary pediatric referral center with suspected IgE mediated allergy can be managed by conventional diagnostic methods. MA diagnostics may be useful in small and selected subgroups as in patients with suspected peanut allergy, however, may not be helpful in all cases.


2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Zhoubin Tan ◽  
Zhuowei Lei ◽  
Zhuo Zhang ◽  
Huaqiu Zhang ◽  
Kai Shu ◽  
...  

Abstract Background Egg-induced immune response and granuloma formation are thought to be the basis of central nervous system (CNS)-related clinical symptoms of Schistosoma japonicum. Microglia/macrophages are the major immune cells involved in detection and subsequent elimination of pathogens and injured tissue in the brain. However, little is known about their role in the pathogenesis of neuroschistosomiasis. The main purpose of the study is to clarify the pathological involvement of microglia/macrophages in the pathogenesis of neuroschistosomiasis (NS). Methods Staining techniques were applied to the granuloma tissues excised from 4 patients, as well as mice model which was established by microinjecting viable S. japonicum eggs into the brain. Clinical features of the patients and neurological symptoms in mice were also collected and analyzed in terms of their correlation with microglia/macrophages. Results Microglia/macrophages constituted the major portions of the granulomas surrounding the eggs in both all human cases and S. japonicum egg-injected mice. Granuloma persisted in all patients accompanied by unremitted neurological symptoms, while in mice granuloma formation initiated on day 3, peaked on day 7 and subsided on day 30 post injection with S. japonicum eggs. No neurological abnormalities were observed in egg-injected mice except for significant weight decrease on day 3 compared with saline-injected control. M1 polarization of microglia/macrophages was confirmed in egg-injected mice 3 days post injection and in all human cases. M2 polarization was absent in human patients despite the duration of complaints but dominated in the whole progression of egg-induced pathology in mice until the elimination of eggs and subsidence of neuroinflammation on day 30 post injection. Conclusions Microglia/macrophages participated actively in the granuloma microenvironment of encephalic schistosomiasis japonicum in both human and mice. The polarization pattern of microglia/macrophages coincided with the symptomatic features in human cases and S. japonicum egg-injected mice, indicating M2 instead of M1 activation as a probably more important mediator in the battle against egg-induced pathology and concomitant manifestations. These new findings will shed light on the pathogenesis of NS from a brand-new perspective, and may contribute to the immunotherapy development for such disease, favoring perhaps M2 polarization of microglia/macrophages as a feasible strategy.


2018 ◽  
Vol 6 ◽  
pp. 2050313X1877473
Author(s):  
Lauren Stemboroski ◽  
Ronald Brown ◽  
Keyrillos Rizg ◽  
James S Scolapio ◽  
Miguel Malespin ◽  
...  

Most esophageal food impactions either pass spontaneously or are treated endoscopically. Severe food impactions can require extensive endoscopic therapy that potentially could lead to procedure-related complications. There are few alternate therapies available when endoscopy fails. Traditionally, pharmacologic therapy with glucagon has been performed with varying success. This case report and discussion will outline the management of a complete food impaction and medical therapies available when first-line endoscopic treatment fails. We present a case in which the endoscopic intervention for esophageal food bolus impaction was unsuccessful.


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