Клинический случай транстиретинового амилоидоза с задержкой верификации диагноза у полностью обследованной больной

The DNA analysis revealed a transthyretin amyloidosis with a rare Phe53Leu mutation in a woman of 62 y.o. with the late onset progressive generalized axonal sensomotor neuropathy, dry eye syndrome, and an episode of severe unintentionally weight loss. The same mutation was found in her healthy 34 y.o. son, but not in a 42 y.o. daughter. The Congo red staining were negative in nerve and salivar gland biopsies samples. The reassessment of the transthyretin amyloidosis “red flags” showed that the patient fulfilled the criteria of the disease and the absence of amyloid deposition was not the ground to reject the hereditary cause of the condition. The reasons of the misdiagnosis are discussed.Представлен случай подтвержденного молекулярно-генетическими методами транстиретинового (ТТР) амилоидоза с поздним началом с редкой мутацией Phe53Leu у женщины 62 лет с прогрессирующей генерализованной сенсомоторной нейропатией, синдромом сухого глаза и рта, быстрой необъяснимой потерей массы тела. Аналогичная мутация выявлена у ее здорового сына 34 лет и не обнаружена у дочери 42 лет. Несмотря на отсутствие амилоида при окраске Конго красным в ранее исследованных биоптатах икроножного нерва и слюнной железы, поставлен диагноз ТТР амилоидоза. Сопоставление основных признаков и симптомов с общепринятыми «красными флагами» для пациентов с ТТР амилоидозом показало соответствие клинической картины наследственному заболеванию, несмотря на отсутствие депозитов амилоида. Обсуждаются причины недостаточной диагностической настороженности

METHODS AND TOOLS FOR DEVELOPING COMPUTER LEARNING SOFTWARE ON ELECTRICAL ENGINEERING BASED ON WIKI TECHNOLOGY

This work is devoted to issues related to the development of learning software and, in particular, digital libraries and knowledge bases in different fields and disciplines. Main attention is paid to the development of computer learning software for electrical engineering on the base of rapidly growing and popular wiki technology. This work was supported by RFBR (projects 12-08-00358, 14-01-00427, 12-07-00508)

New tasks of professional education in preparing the accreditation of radiologists

The paper sets forth the basic provisions of the accreditation of healthcare workers, the principles of a new approach to continuing postgraduate education, by introducing the storage system of credit units, and the tasks of educational establishments to form self-education motivation and to master novel competences

THE USE OF CONFOCAL LASER SCANNING MICROSCOPY IN THE DIAGNOSTICS OF BULLOUS PEMPHIGOID OF LEVER

Diagnostics of autoimmune bullous dermatoses, including bullous pemphigoid of Lever that is characterized by a large variety of clinical manifestations and in many cases by severe course and high mortality, remains one of the most complicated problems in dermatology. High diagnostic error rates are to be explained not only by variability of the forms of bullous pemphigoid of Lever, but also by insufficient accuracy of existing diagnostic methods, as well as by the complexity of their implementation. Non-invasive diagnostic methods have an undoubted advantage because they allow for prompt results of the assessment and therefore to fasten the initiation of therapy and to avoid damage to the skin, which is extremely important for patients with an autoimmune bullous dermatosis. The most accurate among non-invasive methods is a confocal laser scanning microscopy. The article describes the main features of the method and its potential application for the diagnosis of bullous pemphigoid of Lever with two clinical cases

Misdiagnosed case of transthyretin amyloidosis in a fully investigated patient

The DNA analysis revealed a transthyretin amyloidosis with a rare Phe53Leu mutation in a woman of 62 y.o. with the late onset progressive generalized axonal sensomotor neuropathy, dry eye syndrome, and an episode of severe unintentionally weight loss. The same mutation was found in her healthy 34 y.o. son, but not in a 42 y.o. daughter. The Congo red staining were negative in nerve and salivar gland biopsies samples. The reassessment of the transthyretin amyloidosis “red flags” showed that the patient fulfilled the criteria of the disease and the absence of amyloid deposition was not the ground to reject the hereditary cause of the condition. The reasons of the misdiagnosis are discussed

Сomparative analysis of the histologic data before and after radical prostatectomy patients with low pre-operative cancer risk

Prostate cancer (PC) is the most frequent cancer among men in the world. At current PC takes 2nd place in men mortality among all oncological diseases. Histological grading is an important part of the diagnostic evaluation. The most commonly used grading system is the one described by Gleason. The choice of optimal PC treatment becomes complicated due to the fact that different methods have the same oncological results but differ in their complications. From a prognostic point of view, it is of considerable interest to know how accurate the needle biopsy Gleason score is in predicting the final score of the radical prostatectomy specimen. This paper describes comparative analysis of the histologic data before and after radical prostatectomy patients with low pre-operative cancer risk

Glomerulonephritis associated with marginal zone B-cell lymphoma: clinical, pathological characteristics of renal injury and treatment (clinical cases)

Glomerulonephritis associated with marginal zone B-cell lymphoma at the onset of disease is rarely diagnosed. In this article we reported two patient of the extranodal marginal zone B-cell lymphoma with kidney damage. The first patient with the extranodal marginal zone B-cell lymphoma involved the stomach, lymph nodes, bone marrow and associated with mesangioproliferative glomerulonephritis and renal failure. The second patient with the splenic form of marginal zone B-cell lymphoma associated with fibrillary glomerulonephritis and hepatitis C and involve the lymph nodes, liver, bone marrow, and synthesis monoclonal immunoglobulin (IgMκ), cryoglobulin type II. Glomerulonephritis of the both cases were established on the renal biopsies by the morphological investigation, immunofluorescence, and electron microscopy.Both patients received therapy with bendamustine and rituximab, which has resulted in complete remission for lymphatic tumors and improve of kidney function. Overall and event-free survival in the first case corresponds to 21 and 16 months, the second 29 and 20, respectively.These cases illustrates that the kidney may be initially involved by extranodal marginal zone B-cell lymphoma, and the need for expanded investigation of the possible dissemination. Combination of bendamustine and rituximab were effective and safety treatment in these cases