Osler–Weber–Rendu syndrome Mani, B I; Rubel, A R; Chauhdary, W A ...
QJM : An International Journal of Medicine,
08/2020, Letnik:
113, Številka:
8
Journal Article
Non-celiac gluten sensitivity (NCGS) is still an undefined syndrome with several unsettled issues despite the increasing awareness of its existence. We carried out a prospective survey on NCGS in ...Italian centers for the diagnosis of gluten-related disorders, with the aim of defining the clinical picture of this new syndrome and to establish roughly its prevalence compared with celiac disease.
From November 2012 to October 2013, 38 Italian centers (27 adult gastroenterology, 5 internal medicine, 4 pediatrics, and 2 allergy) participated in this prospective survey. A questionnaire was used in order to allow uniform and accurate collection of clinical, biochemical, and instrumental data.
In total, 486 patients with suspected NCGS were identified in this 1-year period. The female/male ratio was 5.4 to 1, and the mean age was 38 years (range 3-81). The clinical picture was characterized by combined gastrointestinal (abdominal pain, bloating, diarrhea and/or constipation, nausea, epigastric pain, gastroesophageal reflux, aphthous stomatitis) and systemic manifestations (tiredness, headache, fibromyalgia-like joint/muscle pain, leg or arm numbness, 'foggy mind,' dermatitis or skin rash, depression, anxiety, and anemia). In the large majority of patients, the time lapse between gluten ingestion and the appearance of symptoms varied from a few hours to 1 day. The most frequent associated disorders were irritable bowel syndrome (47%), food intolerance (35%) and IgE-mediated allergy (22%). An associated autoimmune disease was detected in 14% of cases. Regarding family history, 18% of our patients had a relative with celiac disease, but no correlation was found between NCGS and positivity for HLA-DQ2/-DQ8. IgG anti-gliadin antibodies were detected in 25% of the patients tested. Only a proportion of patients underwent duodenal biopsy; for those that did, the biopsies showed normal intestinal mucosa (69%) or mild increase in intraepithelial lymphocytes (31%). The ratio between suspected NCGS and new CD diagnoses, assessed in 28 of the participating centers, was 1.15 to 1.
This prospective survey shows that NCGS has a strong correlation with female gender and adult age. Based on our results, the prevalence of NCGS seems to be only slightly higher than that of celiac disease.
Polyglandular autoimmune syndromes Kahaly, G. J.; Frommer, L.
Journal of endocrinological investigation,
2018/1, Letnik:
41, Številka:
1
Journal Article
Recenzirano
Background
In recent years, scientific knowledge pertaining to the rare ORPHAN polyglandular autoimmune syndrome (registered code ORPHA 282196) has accumulated.
Objective
To offer current ...demographic, clinical, serological and immunogenic data on PAS.
Methods
Review of the pertinent and current literature.
Results
Polyglandular autoimmune syndromes (PAS) are multifactorial diseases with at least two coexisting autoimmune-mediated endocrinopathies. PAS show a great heterogeneity of syndromes and manifest sequentially with a large time interval between the occurrence of the first and second glandular autoimmune disease. PAS cluster with several non-endocrine autoimmune diseases. In most endocrinopathies of PAS, the autoimmune process causes an irreversible loss of function, while chronic autoimmune aggressions can simultaneously modify physiological processes in the affected tissue and lead to altered organ function. The rare juvenile PAS type I is inherited in a monogenetic manner, whereas several susceptibility gene polymorphisms have been reported for the more prevalent adult types. Relevant for a timely diagnosis at an early stage is the screening for polyglandular autoimmunity in patients with monoglandular autoimmune disease and/or first degree relatives of patients with PAS. The most prevalent adult PAS type is the combination of type 1 diabetes with autoimmune thyroid disease.
Conclusions
Early detection of specific autoantibodies and latent organ-specific dysfunction is advocated to alert physicians to take appropriate action in order to prevent full-blown PAS disease.
Significant polymorphism of the clinical picture of depression and certain contradictions of scientific views on the nosological specificity of these conditions complicate the establishment of ...specific clinical and psychopathological signs of endogenous and psychogenic depression, their typology, dynamics, prognosis, which makes the study of nonverbal behavior relevant and promising task. The purpose of the study was to establish the psychopathological and clinical-ethological manifestations of the primary depressive episode and to conduct a comparative analysis of endogenous and psychogenic variants of the primary depressive episode. Contingents and methods. Based on the principles of bioethics, 96 patients (49 men and 47 women) with primary depressive episode – main group – who applied for outpatient psychiatric department of Zaporizhzhia regional psychiatry clinic in 2018-2021 were clinically examined. Diagnostic conclusions were made in accordance with the ICD-10 criteria. The control group consisted of 35 mentally healthy individuals, comparable in age and gender composition with the study group. Results. Patients with mild and moderate severity of the primary depressive episode are characterized by sad look, poses of reflection, submission, concentration in combination with facial expressions of suffering, guilt, helplessness, pensiveness, sideways, wrinkles on the forehead, stereotyped hand movements, head, head, reducing the synchronicity of gestural, facial and motor components of motility; avoidance of contacts and a sharp decrease in reactions to external influences. Severe manifestations of depression are characterized by sad and mournful facial expressions, lowered corners of the mouth, quiet voice, motor retardation, facial expressions of suffering, guilt and shame. Conclusion. The ethological component of the clinical-psychopathological method, based on the description of nonverbal behavior, can significantly improve the diagnostic capabilities of early detection of depressive episode, provides additional tools for typological differentiation and severity of patients with primary depressive episode.
Laboratory investigations were notable for a positive SARS-CoV-2 nucleocapsid protein IgG, and elevated D-dimer, C-reactive protein, and erythrocyte sedimentation rate (all non-specific inflammatory ...markers). ...there has been only one other report of radiation recall in the context of COVID-19 infection with pneumonitis 3 years after radiotherapy for lung cancer. Since most women with locoregional breast cancer maintain long-term disease control, follow-up presents many non-malignant and treatment-related issues.
The lecture considers the questions of etiology, pathogeny and early diagnosis of hyperthyroidism based on modern international guidelines. The differential diagnosis and role of laboratory methods ...in the treatment of diseases associated with hyperthyroidism were studied. Detailed description of the clinical picture and recommendations for medical treatment are presented.
The problem of interaction between a person and the intestinal microbiome is surrounded by many secrets and mysteries. The bacterial flora of the gastrointestinal tract has a local and systemic ...effect not only on the digestive system, but also on the entire body as a whole. Numerous studies have proved the pathogenetic relationship of the state of the intestinal biocenosis not only with diseases of the gastrointestinal tract, but also with pathological processes from other organs and systems of the body. In terms of its role in maintaining homeostasis, the intestinal microflora is not inferior to any other vital organ. In the presented review, the current aspects of the terminology and clinic of disorders of intestinal microbiocenosis are considered. Probiotics occupy an important place in the complex therapy of intestinal microbiocenosis disorders and the corresponding clinical manifestations. The review considers the main mechanisms of probiotic / host interaction, non-immunological and immunological effects of probiotics and the requirements for them, the main directions of use of representatives of the normal microflora Bifidobacterium and Lactobacillus. The data of meta-analyzes and systematic reviews, testifying to the expansion of indications for the appointment of probiotics, are considered the possibilities of probiotics in the complex therapy of Helicobacter pylori infection, syndrome of increased epithelial intestinal permeability, and the prevention of respiratory infections.
The review concludes with the results of a search in the PubMed database on the possibility of using probiotics in the prevention and treatment of a new coronavirus infection COVID-19. The availability of modern, effective and safe probiotics in the arsenal of a practical doctor (primarily a general practitioner and general practitioner), and their use, contributes to the optimization of drug therapy not only in gastroenterological patients, but also in patients with other somatic pathologies, including those with new coronavirus infection COVID-19.