[Differential diagnosis and tactics of managing a patient with primary hypophysitis on the example of a clinical case].

In recent years, there has been a significant increase in the prevalence of autoimmune endocrinopathies, which are known to affect various levels of the endocrine system, including the pituitary gland. Hypophysitis is a general term used to describe any form of sellar and suprasellar inflammation that leads to structural changes in the hypothalamic-pituitary region and manifests itself in varying degrees of hormonal deficiency of the anterior and posterior pituitary glands. To date, there is a primary form of hypophysitis, which occurs as a result of an autoimmune lesion directly to the pituitary gland, and a secondary form of hypophysitis, which occurs as a result of the presence of a systemic autoimmune disease. Regardless of the etiology, patients with hypophysitis show various signs and symptoms caused by an inflammatory process in the pituitary gland, which can lead to the development of hypopituitarism, compression of the sellar and parasellar structures. MRI is currently the best non-invasive diagnostic tool for diagnosing hypopituitarism, however, the diagnosis can be made with certainty only by histological examination of the pituitary tissue, which requires an invasive approach, which greatly reduces the feasibility of this procedure. In this article, we present a patient with MRI showing signs of hypophysitis in the absence of clear clinical symptoms.

[Clinical importance of evaluation of circulating miRNA expression and epicardial adipose tissue thickness as predictors of cardiovascular pathology in young patients with type 1 diabetes mellitus].

Cardiovascular disease (CVD) in type 1 diabetes mellitus (T1DM) is preceded by asymptomatic changes in the geometry of the heart. The only symptoms of the beginning of cardiac remodeling and concomitant predictors of an unfavorable cardiovascular prognosis are: thickening of epicardial fat (EAT), secreting a number of adipokines, and cardiospecific miRNAs. To improve the effectiveness of prevention of CVD in young patients with DM1, a search was made for structural-functional and epigenetic markers. AIM: To assess the state of the cardiovascular system according to MRI-heart with T1 mapping in T1DM without CVD. To reveal the relationship of epigenetic markers (circulating miR-126-5p, miR-21-5p) and adipokines with cardiovascular system in T1DM. Suggested personalized approach to patients with T1DM with initial manifestations of joint remodeling and/or exclusion of cardiospecific microRNA. MATERIALS AND METHODS: The study included 40 patients: 30 with T1DM (age 26.2±7.4 years), 10 without T1DM (26.4±8.2). The patients underwent a general clinical examination, bioimpedancemetry, electrocardiography, MRI of the heart with T1 mapping, determination of adiponectin, resistin, visfatin, NT-proBNP, miR-126-5p, miR-21-5p. RESULTS: Patients with T1DM had lower levels of cardioprotective miR-126-5p (p=0.046). According to MRI of the heart in T1DM, signs of vascular remodeling were revealed - thickening of the interventricular septum (p=0.001), posterior wall (p=0.012) and relative size of the walls (p=0.048) of the left ventricle, an increase in EAT density (p=0.001). Diffuse vascular fibrosis was found in 16% of patients from the T1DM group. Also, in T1DM, the expression of visfatin is increased (p=0.036) and adiponectin is reduced (p=0.043). CONCLUSION: Structural and functional changes in the cardiovascular system (including thickening of the EAT), shifts in miR-126-5p expression and adipokines profile are observed already at a young age in patients with T1DM. In T1DM, diffuse vascular fibrosis is detected in 16% of patients. The data obtained were used to identify the group increased risk of developing CVD in T1DM and served as the basis for determining the timing of the start of preventive therapy.

[Clinical features, diagnostics and treatment of FGF23 secreting tumors: series of 40 clinical cases].

INTRODUCTION: Tumor-induced osteomalacia is an acquired rare disease manifested by hypophosphatemic osteomalacia due to excessive secretion of fibroblast growth factor 23 (FGF23). FGF 23 is a non-classical hormone secreted by bone tissue (osteocytes) and regulates phosphorus metabolism.The aim of this work is to present clinical experience in the diagnosis, treatment and rehabilitation of patients with tumor-induced osteomalacia. MATERIALS AND METHODS: 40 patients with clinically-confirmed tumor-induced osteomalacia were included in the study, 34 of whom had the tumor localized, 27 underwent surgical treatment and 21 achieved stable remission. RESULTS: The median age was 48 [41; 63] years, 43% were men, the time left from the the onset of the disease was 8 [4; 10] years. Biochemical findings were hypophosphatemia 0.47 [0.4; 0.53] mmol/l, a decrease in the tubular reabsorption phosphate 62 [52; 67]%, and an increase in alkaline phosphatase of 183 [112; 294] units/l. At the time of diagnosis, 100% had multiple pathological fractures, only 10% could move independently, and 77.5% classified the pain as unbearable (8-10 points according to the 10-point pain syndrome scale ). Among the methods used to detect tumors, the most sensitive were scintigraphy with tectrotide with SPECT/CT 71.4% (20/28) and MRI 90% (18/20). In 35% of cases, the tumor was localized in soft tissues and in 65% in bone tissue; The tumor was most often detected in the lower extremities, followed by the head in frequency of localization. 18 patients currently have no remission and they receive conservative treatment (phosphorus and alfacalcidol n=15 and burosumab n=3). In case of achieving remission (n=21), regression of clinical symptoms and restoration of bone and muscle mass was observed. Extensive excision of the tumor without prior biopsy resulted in the best percentage of remission - 87%. CONCLUSION: Tumor-induced osteomalacia is characterized by severe damage to bone and muscle tissue with the development of multiple fractures, muscle weakness and severe pain syndrome. In laboratory diagnostics, attention should be paid to hypophosphatemia, a decrease in the tubular reabsorption phosphate index and increased alkaline phosphatase. The use of functional diagnostic methods with a labeled somatostatin analogue to the subtype 2 receptor and MRI with contrast enhancement are the most accurate methods of topical diagnostics. In case of localization of the tumor, a wide excision without a preliminary biopsy is recommended.

[Dynamics the parameters of mineral metabolism in hospitalized patients with COVID-19, the impact of etiotropic and pathogenetic therapy].

The high prevalence of COVID-19 requires the research progress on the disease pathogenesis. There is a lot of data confirming the association between mineral metabolism and the severity of COVID-19. AIM: To study the dynamics of mineral metabolism parameters in patients with a confirmed COVID-19 at the time of hospitalization and after discharge, including the impact of etiotropic and pathogenetic therapy on them. MATERIALS AND METHODS: A single-center study of 106 patients (aged ≥18 years) with clinically or laboratory confirmed diagnosis of COVID-19 was carried out at the Endocrinology Research Centre, Moscow. Baseline biochemical parameters, including serum calcium, phosphorus, albumin, 25(OH)D, parathyroid hormone (PTH), inflammatory markers, and instrumental assessment of COVID-19 severity were performed before specific immunotherapy, as well as on 3rd and 7th days of hospitalization and before discharge. Statistical analysis was performed with Statistica 13 software (StatSoft, USA). RESULTS: On the first day, hypocalcemia (low albumin-adjusted calcium level) was detected in 40.6% of cases, the prevalence of vitamin D deficiency/insufficiency amounted to 95.3% of cases. At the same time, secondary hyperparathyroidism was identified only in 14.2% of patients. A comparative analysis of mineral metabolism during hospitalization (between 1, 3, 7 days of hospitalization and before discharge) during baricitinib treatment revealed a statistically significant increase in albumin-adjusted calcium by the end of hospitalization (p<0.001, Friedman criterion, Bonferroni correction p0=0.01). A pairwise comparison of subgroups, depending on the therapy, revealed a statistically significantly lower level of albumin-adjusted calcium on 3rd day among patients on baricitinib monotherapy or combined with tocilizumab compared with a subgroup of patients undergoing etiotropic treatment (2.16 [2.13; 2.18] mmol/l vs 2.23 [2.19; 2.28] mmol/l, p=0.002, U-test, Bonferroni correction p0=0.012). CONCLUSION: Patients with severe coronavirus infection are characterized by a high prevalence of vitamin D deficiency and hypocalcemia. Associations between calcium and saturation as well as the severity of lung lesion characterizes hypocalcemia as an important predictor of severe course and poor outcome in COVID-19. Pathogenetic therapy with baricitinib, including in combination with tocilizumab, contributes to achieve normocalcemia, but further studies are required.

[Adrenal incidentaloma. Part 2. Modern concepts of computed tomography semiotics of adrenal gland incidentalomas: algorithm of differential diagnosis].

While accidentally detecting an adrenal gland lesion (incidentaloma) during a routine computed tomography (CT) scan, the radiologist should correctly interpret revealed changes. The most common lesion is adenoma with high lipid content, but a lipid poor adenoma, pheochromocytoma, adrenocortical cancer, metastasis and other less common adrenal diseases are also worth of attention and require detailed knowledge of their CT semiotics. The article presents criteria of differential diagnosis of the adrenal incidentalomas on the basis of which an algorithm of differential diagnosis was proposed for the most common adrenal lesions.

Multiple bilateral hip fractures in a patient with dyskeratosis congenita caused by a novel mutation in the PARN gene.

We report a case of a young male patient with clinical signs of dyskeratosis congenita who presented with multiple bilateral low-traumatic hip fractures. Whole exome sequencing (WES) showed a previously unreported mutation in the poly(A)-specific ribonuclease (PARN) gene. Zoledronic acid 5 mg over 3 years was effective at preventing further fractures. A male patient was referred to our clinic at age 24 due to multiple bilateral hip fractures. At the time of admission, the patient's height was 160 cm and weight 40 kg; bone mineral density (BMD) at the lumbar spine was normal (L1-L4 0.0 Z-score). The patient was found to have abnormal skin pigmentation, hyperkeratosis of palms and soles, nail dystrophy, and signs of bone marrow failure (BMF). Bone fragility first presented at 5 years old with a wrist fracture, followed by multiple bilateral low-traumatic hip fractures without falls from 14 to 24 years. WES showed a previously unreported mutation (NM_002582.3: c.1652delA; p.His551fs) in the poly(A)-specific ribonuclease (PARN) gene. Flow fish telomere measurement result was 5.9 (reference range 8.0-12.6), which is consistent with the DC diagnosis. Permanent fixation with internal metal rods and zoledronic acid 5 mg over 3 years was effective at preventing further fractures over 4 years of follow-up. Additionally, BMF did not progress over 4 years of observation. DC associated with PARN gene mutations might predispose to low-traumatic multiple hip fractures in adolescents and young adults. Treatment with zoledronic acid in this case was effective and safe at preventing further fractures.

[Heart arrhythmias and conduction disorders in patients with acromegaly: the role of cardiac magnetic resonance imaging].

Cardiovascular complications including arrhythmias and cardiac conduction disorders are one of the main reasons of high mortality rate in acromegaly, while they have not been well explored. AIM: To estimate arrhythmias frequency in acromegaly, identify risk factors leading to the development of arrhythmia and cardiac conduction disorder, to determine the role of cardiac MRI in detecting structural and functional changes. MATERIALS AND METHODS: A single-center prospective cohort study, which included 461 patients (151 men and 310 women) with acromegaly, was conducted. All the patients underwent a standard medical examination, including hormonal blood test, electrocardiogram, echocardiography, electrocardiogram daily monitoring. 18 patients with arrhythmias (11 men and 7 women) had cardiac MRI with gadolinium-based contrast. RESULTS: The results of our research show high frequency of arrhythmias and cardiac conduction disorders in patients with acromegaly 42%. Most frequent kinds of arrhythmias and cardiac conduction disorders were sinus bradycardia 19.1% of the cases and conduction disorders of bundle branch blocks 14.5%. Men were more likely to suffer from arrhythmias and cardiac conduction disorders than women (54.2% and 37.4%, respectively,p=0.0005). Not acromegaly activity but duration of the disease was a main risk factor of arrhythmias and cardiac conduction disorders. Patients with arrhythmias had a long anamnesis of acromegaly (10 and 7 years, respectively, p=0.04). Meanwhile, cardiac conduction disorders were commonly observed in the patients who were treated with somatostatin analogs comparing to the patients who didnt undergo this therapy (50% and 38.6% respectively,p=0.004). We showed that 61% of patients with acromegaly and cardiac conduction disorders who underwent magnetic resonance imaging (MRI) had the signs of myocardial fibrosis. The value of the ejection fraction of the left ventricle according to MRI was higher than with echocardiography (p=0.04). CONCLUSION: Arrhythmias and cardiac conduction disorders are often observed in patients with acromegaly even with remission of the disease. High risk group need careful diagnostic and monitoring approaches. Cardiac MRI is the gold standard for visualization of structural and morphological changes in the heart. Use of cardiac MRI in acromegalic patients expands our understanding of arrhythmias and cardiac conduction disorders in this disease. There are no specific laboratory markers of diffuse myocardial fibrosis, and the role of myocardial fibrosis in the occurrence of cardiac arrhythmias and conduction disorders needs further studying.

[Adrenal incidentaloma. Part 1. Computed tomography of adrenal incidentaloma: the possibilities and difficulties of differential diagnosis].

The adrenal incidentaloma is a lesion of a different etiology and found incidentally in patients who underwent a diagnostic study not about the disease of this organ. Lesions can be both hormonally inactive and hormonally active, can arise from different zones of the adrenal gland or have non-specific organ affiliation, can be benign or malignant. Computed tomography characterization of these lesions, especially the differential diagnosis of benign and malignant, is extremely important for the correct diagnosis in order to provide adequate management of the patient. The article presents the key computed tomography criteria that allow radiologist to characterize the lesion most accurately and consider appropriate diagnosis.

Computed tomography diagnosis of primary hyperparathyroidism.

The article presents data on modern approaches to the diagnosis of various manifestations of hyperparathyroidism according to multispiral computed tomography, which do not require morphological verification and ensure the correctness of the diagnostic process. The radiological picture and differential diagnostics of changes from parathyroid glands and bone structures at hyperparathyroidism are described in detail.

[The role of multispiral computed tomographic coronarography].

The aim of the study was to assess the use of multispiral computed tomographic coronarography (MSCT-CG) in comparison with conventional coronary angiography. Overall 62 patients aged 45-72 years were examined, the MSCT-CG was conducted in 38 patients. The sensitivity of MSCT-CG was 92%, the specificity - 91,2%, in comparison with the CAG. The prognostic value of negative test was 95,7%, the prognostic value of positive test was 84%, overall accuracy was counted up to 91,5%. Though, the MSCT-CG showed certain overestimation in calculating the stenosis degree and, thus, false positive results, in cases with calcined atherosclerotic plaques. Main advantages of MSCT-CG were: non-invasiveness, possibility of vessel lumen, arterial wall and structure of the plaque assessment.

[False arterial aneurysms of celiac trunk system in patients with chronic pancreatitis].

20 patients with chronic pancreatitis complicated by development of false aneurysms of arteries in celiac trunk system were observed. Diagnostics utilities included ultrasound study, contrasted computed tomography and angiography. Two types of aneurysms are distinguished: parencchymal and pseudocysts. Radioendovascular operation is the method of choice for aneurism treatment. Surgical treatment is carried out in case of aneurism rupture with voluminous bleeding or on necessity of elimination other complications of chronic pancreatitis (pseudocyst, pancreatic hypertension, wirsungolithiasis).

[Radiological endovascular correction of azygous visceral arterial aneurysms].

Visceral arterial aneurysms are a rare vascular pathology, which lacks specific clinical signs. Imaging modalities play a key role in their diagnosis. Today radiological endovascular interventions appear to be the method of choice for the management of most patients with azygous visceral arterial aneurysms. Various endovascular methods are used for circulatory exclusion of aneurysms, depending on particular anatomy and topology. The paper describes radiological endovascular management of 23 patients with aneurysms of abdominal aorta azygous visceral branches in the A. V. Vishnevsky Institute of Surgery for the period from 1995 to 2007.

[Combined treatment of posttraumatic arterio-venous aneurysm between the aorta and left renal vein].

The authors present herein a case report of a patient presenting with a posttraumatic arterio-venous aneurysm between the aorta and left renal vein, which is an extremely rarely occurring disease. A method of choice in treatment of an arterio-venous aneurysm is an open operation. The clinical example presented demonstrates a possibility of using roentgenoendovascular occlusion for closing the aorto-venous fistula. We report our own experience in treatment of the diseases by means of the occluders PLUG and Amplatzer ASD, followed by a surgical intervention.

[Diagnosis and management of visceral arteries aneurysms].

Visceral arteries aneurysms appear to be of particular clinical importance in surgical practice. Approximately 22% of the reported cases of visceral arterial aneurysms are complicated by a rupture with a high risk of an eventually lethal outcome. Endovascular embolization of the aneurysmal cavity and closure of the arterial wall defect by means of stent-grafts are increasingly gaining ground in surgical practice, which may reasonably be attributed to the minimally invasive nature of the procedure as compared with the conventional and routinely performed surgical intervention. The review deals with the analysis of the Russian and foreign literature pertaining to the problem concerned, covering the aetiology, incidence, localization of aneurysms, and clinical manifestations thereof, also pointing out diagnostic possibilities of instrumental methods of study. To this was added the description of therapeutic modalities using both an open operation, and with the help of endovascular interventions. Also, a comparative assessment of efficacy and safety of various therapeutic techniques is presented herein.