scholarly journals Pantothenate kinase-associated neurodegeneration (Hallerworden–Spatze disease): clinical aspects, diagnosis, treatment (literature review and own data)

2021 ◽  
Vol 23 (5) ◽  
pp. 715-722
Author(s):  
Yu. H. Antypkin ◽  
L. H. Kyrylova ◽  
O. O. Miroshnykov ◽  
O. O. Yuzva ◽  
L. Yu. Silaieva ◽  
...  
Keyword(s):  
Literature Review ◽  
Correct Diagnosis ◽  
Clinical Manifestations ◽  
The Body ◽  
Diagnosis And Treatment ◽  
Motor Deficits ◽  
Clinical Aspects ◽  
Motor Disorder ◽  
Chromosomal Locus ◽  
Pantothenate Kinase

Aim. To analyze current data of scientific literature on the etiology, pathogenesis, approaches to the diagnosis and treatment of rare orphan disease – pantothenate kinase-associated neurodegeneration and to describe the clinical case of this disease. Pantothenate kinase-associated neurodegeneration (PKAN) is a rare inherited autosomal recessive disorder caused by mutations in the PANK2 gene, which is located at the chromosomal locus: 20p13-p12.3. The article presents a literature review and a case report of the diagnosis and treatment of 8-year-old girl with pantothenate kinase-associated neurodegeneration who suffered from progressive motor impairment. Among the dominant clinical manifestations is a growing extrapyramidal motor disorder, the so-called “dystonic storm”, which can range from severe sensorimotor motor deficits in infants and young children to mild parkinsonism in adults. MRI signs in the form of specific changes in the T2-weighted mode, which detects typical areas of hyperintensive signal in globus pallidus, surrounded by a border of hypointensive signal (“tiger’s eye”) are particular important. Neuroimaging data most likely make possible to suspect a correct diagnosis, reducing the time and cost of additional examinations. There is no pathogenetic treatment of this disease now. The main directions of currently available symptomatic drug therapy are described. Clinical trials of detoxifying drugs that reduce iron levels in the body (chelation) and surgical treatments are currently underway. Conclusions. The presented clinical observation once again confirms the complexity of the diagnostic search for orphan diseases of the nervous system. A key place in the diagnosis of pantothenate kinase-associated neurodegeneration belongs to the neuroimaging methods and molecular genetic testing data.

scholarly journals Cholecystocutaneous fistula incidence, Etiology, Clinical Manifestations, Diagnosis and treatment. A literature review

2020 ◽  
Vol 59 ◽  
pp. 180-185
Author(s):  
Muhamad Zakaria Brimo Alsaman ◽  
Muhammad Mazketly ◽  
Mohammad Ziadeh ◽  
Owais Aleter ◽  
Ahmad Ghazal
Keyword(s):  
Literature Review ◽  
Clinical Manifestations ◽  
Diagnosis And Treatment

scholarly journals Cushing’s syndrome: diagnostic labyrinths

2021 ◽  
Vol 27 (3) ◽  
pp. 97-105
Author(s):  
A. R. Volkova ◽  
G. V. Semikova ◽  
M. E. Chernaya ◽  
E. N. Ostrouhova ◽  
A. V. Lisker ◽  
...  
Keyword(s):  
Cushing’S Syndrome ◽  
Correct Diagnosis ◽  
Clinical Manifestations ◽  
Cushing's Syndrome ◽  
The Body ◽  
National Guidelines ◽  
Characteristic Appearance ◽  
Clinical Cases

In the practice of a doctor of any specialty, patients with hypercorticism – a syndrome of excess glucocorticoids level in the body – are not uncommon. Despite the fact that most of these patients have characteristic appearance and clinical manifestations, the correct diagnosis is often established months or even years after the first complaints.The objective of this article was to demonstrate the clinical cases of patients with hypercorticism of various genesis, as well as a short theoretical reference based on the National Guidelines for the Management of Patients with Cushing’s Syndrome (2016).

scholarly journals Pathogenesis and clinical aspects involved in stroke associated with COVID-19: A literature review

2021 ◽  
Author(s):  
Gabriel Henrique Gastaldello ◽  
Amanda Rodrigues Correia Frota Gomes ◽  
Bruna Belone Garcia ◽  
Damiana Gianotto Pires ◽  
Cristiane Tefé Sillva
Keyword(s):  
Literature Review ◽  
Direct Action ◽  
Clinical Manifestations ◽  
Clinical Aspects ◽  
Prothrombotic State ◽  
University Center ◽  
Search Terms ◽  
Morphological Aspects ◽  
Intracranial Arteries ◽  
Coagulation Pathway

Introduction: Currently, an increasing number of studies point to the prevalence of neurological manifestations associated with COVID-19, including stroke. Although the pathophysiology is not completely understood, the infection induces a prothrombotic state stimulate by high levels of factor VIII, fibrinogen and Ddimer. In this sense, high mortality (44,2%) is a challenging context and identify influences of clinical and morphological aspects the outcome of these patients. Design and setting: Literature review conduced in Barão de Mauá University Center, Ribeirão Preto-SP. Objective: Clarifying aspects involved in the pathogenesis and clinical manifestations in patients with COVID-19 and Stroke. Methods: The primary databases utilized to retrieve the salient medical literature presented in this review were Scielo and Pubmed. The search terms, included “stroke”, “SARS-CoV”, “covid-19”. Discussion: Ischemic stroke was the most common subtype found associated with multiple infarctions and cryptogenic etiology. The mechanisms are multifactorial, including conventional pathways stimulated by the pathogen or direct action. Called “sepsis coagulopathy”, activation of the coagulation pathway associated with viral invasion of endothelial cells and excessive release of cytokines causes a prothrombotic state. Hemorrhagic stroke is less common. It is believed that the affinity of SARS-coV- 2 for ACE2 (angiotensinconverting enzyme 2) receptors could directly damage intracranial arteries, causing rupture, associated with fibrinogen depletion and massive release of cytokines and proteases. Conclusion: Individuals affected by COVID-19 that are affected by stroke face more severe conditions and worse associated outcomes. Thus, understanding the pathophysiology and clinical aspects brings greater effectiveness in the care of these individuals and lower mortality.

scholarly journals Doctors' Awareness of Celiac Disease: Survey Results

2021 ◽  
Vol 17 (16) ◽  
pp. 92-100
Author(s):  
S.V. Bykova ◽  
◽  
E.A. Sabelnikova ◽  
E.I. Zadiran ◽  
A.I. Parfenov ◽  
...  
Keyword(s):  
Celiac Disease ◽  
General Practitioners ◽  
Correct Diagnosis ◽  
Clinical Manifestations ◽  
Statistical Processing ◽  
Risk Groups ◽  
Disease Diagnosis ◽  
Diagnosis And Treatment ◽  
Cross Sectional ◽  
Celiac Disease Diagnosis

The aim is to assess the awareness of general practitioners, gastroenterologists and other specialists on the methods of celiac disease diagnosis and treatment. Materials and methods. A single-stage continuous cross-sectional study of celiac disease awareness among general practitioners, gastroenterologists and other specialists was conducted. The level of doctors’ awareness was determined by the anonymous voluntary questionnaire using the questionnaire of 23 items developed on the basis of the Department of Non-Inflammatory Bowel Pathology (supplement). According to the answers to the questionnaire items, the knowledge of doctors in the field of diagnosis, therapy, and tactics of managing patients with celiac disease was evaluated. The study involved 197 doctors of medical organizations in Moscow and the Moscow Region. Statistical processing was performed with the use of Microsoft Excel 2016 software (Microsoft, USA) and the use of descriptive statistics methods. The data is presented in the form of absolute numbers and their fractions. Results. The survey revealed gaps in the doctors’ knowledge on the methods of celiac disease diagnosis and clinical manifestations,the definition of risk groups of patients to be examined to exclude celiac disease, the criteria for prescribing the gluten-free diet, as well as some social aspects. These studies indicate the lack of understanding of the methods of correct diagnosis and the need to improve the knowledge of doctors, the introduction of educational programs, schools for doctors and patients. Conclusion. It is necessary to improve the skills of doctors in celiac disease diagnosis and treatment in order to improve the screening and early diagnosis of celiac disease and related complications

Toxocariasis in Children: An Update on Clinical Manifestations, Diagnosis, and Treatment

2017 ◽  
Vol 12 (04) ◽  
pp. 222-227 ◽  
Author(s):  
Manar Ramadan ◽  
Nagwa El-Sayed
Keyword(s):  
Immune Response ◽  
Correct Diagnosis ◽  
Parasitic Infection ◽  
Clinical Manifestations ◽  
Infected Group ◽  
Diagnosis And Treatment ◽  
Positive Serology ◽  
Major Health ◽  
Neglected Disease ◽  
Human Infections

AbstractToxocariasis, a parasitic infection, carries a major health risk in children, especially in the developing countries. Children are the most infected group because of their undeveloped immune system, their higher exposure to infection, and the frequency of reinfections depending on the factors related to their hygienic and behavioral habits. Many human infections are asymptomatic, with only eosinophilia and positive serology. However, several complications were associated with this neglected disease. These complications depend on the organs invaded by migrating Toxocara larvae, the degree of the larvae burden, and the strength of the host immune response. This review aims at giving an update on clinical manifestations, diagnosis, and treatment of toxocariasis in children. The pediatricians should merge this information into their clinical diagnosis to defeat this neglected disease by establishing the correct diagnosis and treatment.

scholarly journals CLINICAL ASPECTS AND ALGORITHMS DIAGNOSTICS OF DIFFERENT TYPES OF ERYTHRODERMA

2018 ◽  
Vol 21 (2) ◽  
pp. 72-80
Author(s):  
O. Yu Olisova ◽  
D. V Zaslavsky ◽  
A. A Sidikov ◽  
I. N Chuprov ◽  
J. Wenzel ◽  
...  
Keyword(s):  
Clinical Examination ◽  
Correct Diagnosis ◽  
Clinical Manifestations ◽  
Final Diagnosis ◽  
Clinical Aspects ◽  
Inflammatory Dermatosis ◽  
Histological Data ◽  
Definition Of ◽  
A Prospective Study ◽  
Medical University

Erythroderma - the term used for the description intensive and usually widespread reddening of the skin which has arisen owing to activation of the previous inflammatory dermatosis. The aim is to study and compare clinical manifestations of various forms of an erythroderma and also to develop an algorithm of their diagnostics and therapy. We observed 133 patients with an erythroderma undergoing investigation and treatment on bases of dermatologic depatments: V.A. Rakhmanov Clinic of skin and veneral diseases I.M. Sechenov First Moscow State Medical University, Leningrad Regional centre of specialized types of a medical care, Skin-Venerologic Clinic of St. Petersburg and university clinic Bonn the period from 2001 to 2018. A prospective study was conducted at 51 patients, is retrospective - at 82 patients. From them were men - 83 persons and women - 50 people, whose average age was 49 years (in the range 26-85 years). The collecting of the anamnesis is carried out; clinical data are studied and for verification of the diagnosis are compared with results of a histological research. Clinical manifestations of all surveyed groups were similar. The most frequent symptoms were generalized reddening and a peeling of the skin, an itch of skin, different degree of expressiveness and a form of changes of nail plates, changes of palms and soles. Diagnosis on the basis of only clinical examination gave the chance to make the correct diagnosis in 77(58%), in comparison with the final diagnosis 112(84,1%) from 133 made on the basis of set of clinical, histological data and reaction to therapy. In particular, the diagnosis of a psoriatic erythroderma was made in 26(34,58%) from 133, an atopic eythroderma - 20(26,6%), the eythroderma caused by reception of drugs - 24(31,92%), an erythrodermic form of mycosis fungoides/Cezary syndrome - 7(9,31%) from 133 patients. The clinical diagnosis didn’t correspond to the final diagnosis in other 56(42%) from 133 patients. Thus, at diagnosis and definition of forms of an erythroderma important aspect is clinical examination and clinicopathologic correlation.

scholarly journals Clinical masks of pleuropulmonary dirofilariasis, a rare clinical presentation of dirofilariasis in Russia: a report of four cases and literature review

2015 ◽  
Vol 20 (1) ◽  
pp. 43-49
Author(s):  
A. M Bronshteyn ◽  
N. A Malyshev ◽  
L. V Fedianina ◽  
A. A Frolova ◽  
I. V Davydova
Keyword(s):  
Literature Review ◽  
Clinical Presentation ◽  
Clinical Symptoms ◽  
Clinical Manifestations ◽  
Strain Differences ◽  
Dirofilaria Repens ◽  
Moscow Region ◽  
Diagnosis And Treatment ◽  
Clinical Simulation ◽  
Regions Of Russia

There arc described four cases of infection of the lungs and pleura with Dirofilaria in patients infected in the Moscow region and Moscow, with clinical manifestations of recurrent exudative pleurisy, tumor-like formations in the pleura and the lungs. Non-specific clinical symptoms and clinical simulation of common known diseases render difficult the clinical and instrumental diagnosis of pleuropulmonary dirofilariasis. Currently, the best method of diagnosis and treatment of heartworm lungs and pleura is Videothoracoscopy. There are analyzed factors that contribute to the pleuropulmonary infection with Dirofilaria. There is mentioned the possibility of strain differences between Dirofilaria repens, distributed in various regions of Russia and abroad, and there are discussed the problems of treatment.

scholarly journals Modern View on the Problem of Systemic Lupus Erythematosus with and without Comorbid Lesions of the Circulatory System (Literature Review, Clinical Case Description) (first notice)

2021 ◽  
Vol 1-2 (33-34) ◽  
pp. 37-50
Author(s):  
L. Kobak ◽  
◽  
O. Abrahamovych ◽  
U. Abrahamovych ◽  
V. Chemes ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Literature Review ◽  
Lupus Erythematosus ◽  
Clinical Case ◽  
Clinical Manifestations ◽  
Circulatory System ◽  
Diagnosis And Treatment ◽  
Systemic Lupus ◽  
Modern View ◽  
Working Age

Context. The prevalence and incidence of systemic lupus erythematosus (SLE) in the world is significant. In recent years, there has been a tendency of the SLE prevalence increase. despite the undoubted progress in understanding the etiology and pathogenesis of SLE, its diagnosis and treatment, the mortality of patients, including ones at young and working age, is higher than in the general population, and circulatory system lesions are ones of its main reasons in these cases. Objective. To analyze the literature, dedicated to the modern view on the problem of systemic lupus erythematosus with and without comorbid lesions of the circulatory system, describe the clinical case. Materials and methods. Content analysis, method of system and comparative analysis, bibliosemantic method of studying the current scientific investigations on modern principles of diagnosis and treatment of patients with SLE are used. A clinical case is described. Results. The article presents modern ideas about the etiological factors and pathogenesis of the disease. The clinical manifestations of SLE are very diverse. The problem of comorbidity and syntropy of lesions is relevant. Lesions of the cardiovascular system in the case of SLE can manifest itself in the form of pericarditis, myocarditis, endocarditis, lesions of the heart valves, coronary arteries, aorta, conduction system, pulmonary hypertension occurrence. The basic principles of drug therapy are also briefly considered. Conclusions. The results of the literature review indicate the importance of the problem of systemic lupus erythematosus, due to its widespread prevalence among the young and people of working age, lack of accurate knowledge about the etiology and pathogenesis of the disease, comorbid lesions of many organs and systems, including circulatory system, the development of severe and often life-threatening manifestations, the lack of clear recommendations that would predict the differentiated use of drugs taking into account comorbid syntropic lesions, which is also demonstrated in the described clinical case. Given this, systemic lupus erythematosus needs further in-depth study.

scholarly journals CURRENT ISSUES OF ETIOPATHOGENESIS, CLINICAL PICTURE, DIAGNOSIS AND TREATMENT OF MULTIPLE SCLEROSIS (LITERATURE REVIEW AND OWN DATA)

2017 ◽  
Vol 25 (2) ◽  
pp. 316-327
Author(s):  
L. V. Lorina ◽  
A. O. Burshinov
Keyword(s):  
Multiple Sclerosis ◽  
Literature Review ◽  
Clinical Picture ◽  
Demyelinating Disease ◽  
Clinical Manifestations ◽  
Diagnosis And Treatment ◽  
Immunomodulatory Drugs ◽  
Internal And External Factors ◽  
Brain And Spinal Cord

The article provides a literature review on contemporary aspects of etiopathogenesis, clinical picture, diagnosis and treatment of multiple sclerosis (MS). MS is one of the most socially significant problems of modern neurology. MS has been proven to be a multifactorial disease, which develops as a result of both internal and external factors. In the early stages of this disease there is damage to the axons, therefore MS is not only considered an autoimmune demyelinating disease, but also neurodegenerative. The disease is characterized by a variety of clinical manifestations. The variety of neurological symptoms is due to a multiplicity of foci of demyelination and their localization in brain and spinal cord. Neuroimaging methods play an important role in the modern diagnosis of MS. Management of patients with a diagnosis of MS involves compulsory and long-term basic therapy with immunomodulatory drugs that change the course of multiple sclerosis.

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