Endocrine ophthalmopathy (EOP) is a multidisciplinary problem at the intersection of endocrinology and ophthalmology. The patients presenting with this condition experience deficit of adequate medical aid due to the poor cooperation between ophthalmologists and endocrinologists. There are practically no specialized centres in this country where the patients with EOP could receive the combined treatment of this pathology including the surgical intervention. Taken together, late diagnostics and delayed seeking the efficacious medical assistance, the absence of stable compensation of the functional disorders of the thyroid gland, erroneous identification of the phase of the disease, and incorrect choice of the methods for its treatment, the lack of coordination and consistency in the actions of ophthalmologists and endocrinologists are responsible for the low effectiveness of EOP treatment. On the other hand, the absence of the unified approach to diagnostics and treatment of endocrine ophthalmopathy, the necessity of introducing the international experience gained in this field into the routine clinical practice and pooling efforts of representatives of different medical disciplines (endocrinologists, ophthalmologists, radiologists, endocrine surgeons, and neurosurgeons) created the prerequisites for the solution of the EOP problems and gave impetus to the development of the recommendations being proposed.

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ОБЗОРЫДиабетическая полинейропатия (ДПН) являет-ся одним из наиболее распространенных поздних осложнений сахарного диабета (СД), а также глав-ной причиной язвенных дефектов стоп [1]. В связи с неуклонным ростом заболеваемости СД 2-го типа проблема приобретает все большие масштабы [2]. По современным представлениям, распространен-ность нейропатии на стадии явных клинических симптомов может достигать 21,9% [3], тогда как не-врологический дефицит уже имеют около 50% па-циентов с СД [4]. Недавно показано, что распро-страненность нейропатии среди лиц с СД составля-ет около 28%, однако начальные признаки повреж-дения периферической нервной системы обнаружи-вались уже у 13% пациентов с нарушением толе-рантности к глюкозе (НТГ) [5]. Различия в частоте встречаемости ДПН обусловлены отсутствием на-дежных методов диагностики, а также использова-нием различных критериев оценки степени тяжести нейропатии. Вероятно, повреждение нервных воло-кон может предшествовать развитию других ослож-нений СД и в ряде случаев быть первым клиниче-ским признаком нарушения углеводного обмена. There are presently no reliable methods for diagnostics of the early manifestations of the lesions in the peripheral nervous system. Only puncture biopsy of the skin and the nerves can be used at the preclinical stage. However, the application of these invasive methods is fraught with the risk of infectious complications. Confocal retinal microscopy is the new non-invasive morphometric technique that permits to reveal the early signs of the lesions in the peripheral nervous system and to study dynamics of the associated changes that can be used as a valid surrogate end point for the evaluation of the effectiveness of pharmacotherapy.

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Background:Recently a group of T-cell clones with characteristic T-cell receptor (TCR) motif was identified in peripheral blood and synovial fluid of HLA-B*27+ patients with ankylosing spondylitis (AS) [1-2] - a prototypic disease from a wider group of spondyloarthropathies (SpAs). Extraarticular manifestations of AS could involve skin, intestine or eye. Emerging data indicate linkage between intestinal and joint inflammation, including expression of gut-associated integrins on synovial T-cells [3-4]. However, clonal T-cell composition and presence of identical clones in different inflamed sites in SpAs remains poorly studied.Objectives:To investigate clonal T-cell repertoire and presence of AS-related TCR motif in different sites of inflammation of patients with SpA.Methods:Samples of synovial fluid (SF) were obtained from HLA-B*27+ and HLA-B*27- patients with ankylosing spondylitis (AS) and psoriatic arthritis (PsA), as well as gut biopsy samples from patients with AS and Crohn’s disease (AS/CD) or ulcerative colitis (AS/UC), and conjunctival swabs from patients with uveitis (Uv) and with or without articular manifestations (Table 1). Also SF and gut biopsy samples were obtained from HLA-B*27+ patients with juvenile idiopathic arthritis (JIA). For one patient PsA patient paired samples of SF and gut biopsy were obtained.Table 1.Detection of the AS-related motif TRBV9_CASS[V/A/L/P][G/A] [L/T/V][F/Y]STDTQYF_TRBJ2-3 in bTCR repertoires of samples from different inflamed sites of patients with SpATissueDiagnosisB27+B27-AS-related TCR motif+ among all samples from B27+ donorsSynovial fluidAS2012PsAJIAIntestinal biopsyAS/CD433 / 4AS/UCJLAConjunctival swabUv804 / 8SF and gut samples were processed to isolate mononuclear cells, while conjunctival swabs were directly lysed in the lysis buffer. CD3+ β7-intergin+ cells were isolated from SF by fluorescence-activated cell sorting. Deep TCR repertoire profiling was carried out using UMI-based cDNA library preparation technology [1].Results:Identical T-cell clonotypes were detected between paired SF and gut samples of the same patient with psoriatic arthritis and intestinal inflammation. The subpopulation of β7-intergin+ SF T-cells shared significantly more identical clonotypes with gut biopsy repertoire compared to the bulk SF T-cell repertoire.Clonotypes belonging to the AS-related TCR beta motif TRBV9_CASS[V/A/L/P][G/A][L/T/V][F/Y]STDTQYF_TRBJ2-3 were detected in all inflamed tissues tested: synovial fluid, intestinal biopsies and conjunctival swabs of SpA patients (Table 1). Importantly, we observed these clonotypes exclusively in samples from HLA-B*27+ donors (n=26), but not in HLA-B27- context (n=15) with comparable analysis depth, thus confirming strong HLA-B*27-restriction of the clonotypes. The AS-related clonotypes were detected in the subpopulation of β7-intergin+ SF T-cells from HLA-B*27+ patients with PsA.Conclusion:For the first time we directly report the T-cell clonal sharing between synovial fluid and inflamed gut tissue of SpA patients. In sum our data suggests involvement of identical T-cell clones in inflammation in different anatomical sites in SpA.References:[1]Komech et al. Rheumatology (Oxford). 2018;57(6):1097-1104.[2]Faham et al. Arthritis Rheumatol. 2016;11(10):300-308.[3]Guggino et al.Ann Rheum Dis. Published Online First: 18 October 2019.doi:10.1136/annrheumdis-2019-216456.[4]Qaiyum et al Ann Rheum Dis. 2019;78(11):1566-1575.Acknowledgements:We thanks all the patients and medical personnel involved in the studyDisclosure of Interests:None declared

The present study included a total of 22 patients (44 eyes/orbits) presenting with endocrine ophthalmopathy (EOP) and Graves' disease. All of them underwent routine ophthalmological examination. The activity and severity of EOP were verified in accordance with the EUGOGO recommendations. The MRI protocol included obtaining T1-, T2-weighted, and STIR sequence images of the orbits. quantitative measurement of signal intensity (SI) from extraocular muscles (EOM), and the signal intensity ratio of EOM to ipsilateral temporal muscle (SIR value). The study has revealed the relationship of the minimal, maximum, and average EOM SI with EOP activity and severity. Moreover, it demonstrated direct correlation between SIR and clinical activity of EOP. It is concluded that MRI of the orbits with STIR sequence in the patients suffering EOP provides the additional criteria for the verification of the activity and severity of the disease as well as for prognostication of the response to the immunosuppressive treatment.

This literature review offers a detailed description of the genes and proteins involved in pathophysiological processes in isolated retinitis pigmentosa (RP). To date, 84 genes and 7 candidate genes have been described for non-syndromic RP. Each of these genes encodes a protein that plays a role in vital processes in the retina and / or retinal pigment epithelium, including the cascade of phototransduction (transmission of the visual signal), the visual cycle, ciliary transport, the environment of photoreceptor cilia and the interphotoreceptor matrix. The identification and study of pathophysiological pathways affected in non-syndromic RP is important for understanding the main pathogenic ways and developing approaches to target treatment.

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