timely diagnosis
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2021 ◽  
Vol 15 (4) ◽  
pp. 99-104
Author(s):  
Tatiana E. Popova ◽  
Alexey A. Tappakhov ◽  
Tatiana K. Davydova ◽  
Tatiana G. Govorova ◽  
Alyona Yu. Petrova ◽  
...  

Hashimoto encephalopathy is a rarely diagnosed autoimmune neurological disorder, associated with the presence of antithyroid antibodies. The variability of clinical presentation, rarity of the disease, and absence of specific diagnostic markers make timely diagnosis very complicated. This article describes a clinical case of a female patient with Hashimoto encephalopathy and discusses diagnosis, differential diagnosis and treatment approaches. We emphasize the importance of establishing a timely diagnosis, considering high efficacy of targeted treatment.


2021 ◽  
Vol 10 (3) ◽  
pp. 83-91
Author(s):  
N.Y. Pedachenko ◽  
R.A. Tukhtarian ◽  
I.L. Avetis'yan ◽  
T.L. Shemelko

Background. Chronic endometritis and endometriosis have a lot in common. Both diseases are long-term inflammatory processes, with definitively unspecified etiological factors and pathogenetic mechanisms that negatively affect fertility and may cause pelvic pain or abnormal uterine bleeding. The issue of effective and timely diagnosis of chronic endometritis remains open due to the lack of specific clinical symptoms and clinical examination data. Assessment of current scientific evidence of the interrelationship between endometriosis and chronic endometritis. Materials and methods. A systematic search of scientific medical information has been conducted in English-language databases: MEDLINE, Scopus, Web of Science, Medline, The Cochrane Library, PubMed. Results. According to the review of various scientific studies that have recently been conducted, it has been found that patients with endometriosis statistically have a significantly higher risk of developing chronic endometritis by 1.3-2.5 times than women without endometriosis. Using a histological endometrial study and detection of CD138, chronic endometritis was found in 52.94 % of women in the endometriosis group and in 27.02 % of patients in the endometriosis-free group; the rate was significantly higher in the endometriosis group than in the control group (p = 0.0311). Moreover, 76% of women with endometriosis showed inflammatory processes of pelvic organs (compared to the control group, where inflammation was found in 38.4 % of women, p < 0.0001). Conclusions. Patients with endometritis demonstrate a positive correlation with development of endometriosis. Given the inability to establish a causal relationship between endometriosis and chronic endometritis, extended diagnosis is necessary to eliminate chronic endometritis, especially if women have abnormal uterine bleeding or chronic pelvic pain. The combination of histological and immunohistochemical endometrial examination methods has shown its effectiveness in timely diagnosis of chronic endometritis. Identifying and adequately treating this condition will help avoid unnecessary surgery.


2021 ◽  
Author(s):  
Andreas Koster ◽  
Michael Nagler ◽  
Gabor Erdoes ◽  
Jerrold H. Levy

Heparin-induced thrombocytopenia is a severe prothrombotic disease. Timely diagnosis and treatment are essential. Application of diagnostic algorithms based on validated clinical scoring tools and rapid, specific laboratory assays may improve outcomes.


2021 ◽  
pp. 53-57
Author(s):  
D. D. Tarasova ◽  
L. N. Shilova ◽  
M. V. Koroleva

Introduction. Ankylosing spondylitis and Crohn's disease are chronic recurrent autoimmune diseases. In case of a combined course their activity tends to progress, regardless of the phase of the underlying disease.The aim of the study. To analyze the combination of ankylosing spondylitis and Crohn's disease, issues of its diagnosis and selection of therapy.Results. The combination of ankylosing spondylitis and Crohn's disease tend to progress independently, regardless of the phase of the underlying disease. The main problem that complicates diagnosis is the lack of a unifed approach to the defnition of extra skeletal and extraintestinal manifestations.Conclusion. The management of patients with a combination of ankylosing spondylitis and Crohn's disease is a common problem of rheumatologists and gastroenterologists. An interdisciplinary approach will allow timely diagnosis of extra-skeletal and extra-intestinal manifestations and correct therapy.


Author(s):  
D. I. Sadykova ◽  
T. P. Makarova ◽  
A. R. Shakirova ◽  
R. M. Sayfullina ◽  
R. D. Sayfieva ◽  
...  

Idiopathic hemosiderosis of lung tissue is a rare disease with lung damage caused by massive hemorrhage into the lung tissue, with iron-containing hemosiderin deposition. Mainly it occurs in childhood. The article describes the clinical case of idiopathic hemosiderosis of lung tissue in a 3 years 11 months old child. The girl was observed for anemia of unclear etiology, she was repeatedly treated at a hospital and received erythrocyte transfusions. In the future, respiratory syndrome joined the anemic syndrome. It should be noted that a correctly collected anamnesis, timely diagnosis of the disease and the appointment of immunosuppressive therapy make it possible to prevent the rapid progression of the process and the development of complications, including pneumosclerosis.


2021 ◽  
Vol 20 (3) ◽  
Author(s):  
V.M. Solovei

Objective – to analyze modern views on the mechanisms of perinatal complications’development in order to predict them in women with miscarriage in the first trimester ofgestation.Conclusions. The need for further study of this problem, taking into account theethiopathogenesis, in order to develop algorithms for predicting gestational complicationsand timely diagnosis, which will improve perinatal outcomes, was shown. Therefore, thepriority task, aimed at reducing reproductive losses, is the prevention of miscarriage byfinding new screening markers that will detect preclinical forms of pathology.


Author(s):  
V. Palamarchuk ◽  
V. V. Voitenko ◽  
N. Shapoval ◽  
T. Ogryzko

Medullary thyroid cancer (MTC) accounts for 5—10 % of all thyroid cancers. Most cases are sporadic (75 %), but the proportion of patients with MTC and familial medullary thyroid carcinoma (FMTC) is the highest among any hereditary cancer syndromes (appro­ximately 25 %), and this risk should be considered when evaluating a patient with MTC. In this clinical case study, case of FMTC has been elucidated. Diagnostic criteria of the disease, molecular-genetic aspects, treatment tactics and post-operative observation findings have been presented. The case study illustrates, the efficacy of genomic profiling for the identification of molecular genetic drivers of the disease and its role in ensuring proper and timely diagnosis and treatment of familial form of MTC. When planning prophylactic thyroidectomy, it is recommended to focus on the stratification of the level of RET gene mutation and the timing of prophylactic thyroidectomy as proposed by the American Thyroid Association. The use of molecular genetic investigations in clinical practice for diagnosing MTC makes it possible to objectify the genetic line of the disease in a particular biological family. The patient was found to have a pathogenic germline missense mutation c.2304 G> T (p.E768D, CM020961) in a heterozygous state, which refers to moderate risk of aggressiveness of MTC. In addition, molecular genetic test was performed for the patient's biological child, a 4-year-old girl. Pathogenic mutation was found in the CHEK2 gene, c.47OT> C (p.Ile 157 Thr) in a heterozygous state. These mutations increase the risk of developing breast cancer by 2-3 times, and by 4-5 times in the presence of family history of cancer. The presence of this mutation increases the risk of developing other types of cancers such as stomach, breast, intestinal, prostate and thyroid cancers. Timely diagnosis of FMTC allows to formulate adequate treatment strategy at the preclinical stage of the disease and can significantly improve the quality and duration of life.


Author(s):  
Sanjanaa Srikant ◽  
Darshit Dave ◽  
Dhara Dave

Pneumatocele may complicate the course of SARS-CoV2 infection. Our article exhibits the value of early radiological imaging for the timely diagnosis and management of COVID-19 and its complications. Conservative management is the mainstay of treatment of pneumatoceles however prompt surgical intervention is imperative for complicated pneumatoceles.


2021 ◽  
Vol 23 (Supplement_G) ◽  
Author(s):  
Lidia Colangelo ◽  
Maria Colangelo ◽  
Luca Stefanini

Abstract Aims The Brugada syndrome (Brs) is an inherited disorder associated with risk of ventricular fibrillation and sudden cardiac death in a structurally normal heart. The purpose of this case presentation was to spread awareness about this condition, highlight the importance of timely diagnosis and effective treatment of this channelopathy especially in asymptomatic young athletes at high risk of sudden cardiac death. Methods and results In this report, we discuss the case of a 47-year-old male. He was a tennis player who performed a visit to the sports doctor to have issued a certificate for competitive fitness. He had no familiar history of sudden death or syncope. The patient’s electrocardiogram (ECG) revealed J-point elevation and ST-segment elevation in the right precordial leads V1 and V2 positioned in the second, third, or fourth intercostal space, showing classic type II ‘saddleback’ morphology in V2 and BrS was suspected. Hence, the patient underwent Holter ECG monitoring with evidence of spontaneous type 1 Brugada pattern (‘coved’ morphology), as well as frequent ventricular ectopic beats with left branch block morphology. Indeed, a diagnosis of BrS was made. Antiarrhythmic prophylaxis therapy with hydroquinidine was initiated and the patient was suspended from competitive activity with a 3-month follow-up. Conclusions The BrS is a hereditary disease characterized by a typical ECG pattern potentially predisposing active individuals with no patent structural heart disease to ventricular arrhythmias (VA) and sudden cardiac death (SCD). Nowadays, it is difficult to discern the true burden of BrS due to the unknown real prevalence of asymptomatic patients and the dynamic variability of the ECG pattern in individuals. The purpose of this case presentation was to spread awareness about this condition, highlight the importance of timely diagnosis, and effective treatment of this channelopathy especially in asymptomatic young athletes at high risk of SCD. Indeed, exercise may potentially worsen the ECG abnormalities in BrS patients, resulting in higher peak J-point amplitudes during the vasovagal reaction of the recovery period, possibly leading to an increased risk of cardiac events. Moreover, the enhanced vagal tone in athletes could be both a BrS risk factor and an exercise effect. For this reason, athletic pre-participation screening is essential for minimizing the risk for SCD in athletes participating in either competitive or leisure sporting activities.


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