scholarly journals Severe damage of respiratory muscles in polymyositis

2019 ◽  
Vol 4 (4) ◽  
pp. 53-57
Author(s):  
Elena N. Scryabina ◽  
Nadezhda A. Magdeeva ◽  
Irina F. Melehina ◽  
Olga L. Alexandrova
Keyword(s):  
Clinical Symptoms ◽  
Myocardial Dysfunction ◽  
Respiratory Muscles ◽  
Severe Condition ◽  
Limb Muscles ◽  
Diaphragm Position ◽  
Pathogenetic Therapy ◽  
Massive Necrosis ◽  
Ischemic Attack ◽  
Continuous Use

Objectives - to present a clinical case of polymyositis in a 55-year-old man. The patient was admitted with a diagnosis "transient ischemic attack", quickly followed by an acute respiratory failure, which required the continuous use of mechanical ventilation. Other clinical symptoms included: a high diaphragm position up to the 4-th ribs, the concurrent purulent endobronchitis, bilateral pneumonia, pleurisy, multiple atelectasis, myocardial dysfunction with a decrease in ejection fraction to 46%, local hypokinesia according to EchoCG data. Despite the severe condition of the patient, there was not registered any distinct impairment of the proximal limb muscles and an increase in creatinphosphokinase blood level. The antinuclear myositis-specific antibodies, the signs of primary muscular damage according to the limb muscles ENMG data were also absent. The paraneoplastic process was excluded. The results of clinical examination made the diagnosis of polymyositis uncertain. To clarify the cause of the respiratory muscles damage, an intercostal muscle biopsy was performed.It revealed expressed changes in the muscle, with massive necrosis areas, and perivascular lymphohistiocytic infiltration. Conclusion. The described case of polymyositis is extremely rare, has a severe course and is complicated for diagnosis and treatment. In this case, the most informative examination method can be a biopsy of the intercostal muscles, which allows to identify the inflammatory origine of the disease and to determine the pathogenetic therapy.

scholarly journals Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families

2021 ◽  
Vol 22 (7) ◽  
pp. 3625
Author(s):  
Filomena Napolitano ◽  
Giorgia Bruno ◽  
Chiara Terracciano ◽  
Giuseppina Franzese ◽  
Nicole Piera Palomba ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Rare Variants ◽  
Clinical Symptoms ◽  
Late Onset ◽  
Respiratory Muscles ◽  
Autosomal Recessive Disorder ◽  
Compound Heterozygous ◽  
Enzyme Replacement ◽  
Whole Exome ◽  
Clinical Pictures

Pompe disease is an autosomal recessive disorder caused by a deficiency in the enzyme acid alpha-glucosidase. The late-onset form of Pompe disease (LOPD) is characterized by a slowly progressing proximal muscle weakness, often involving respiratory muscles. In LOPD, the levels of GAA enzyme activity and the severity of the clinical pictures may be highly variable among individuals, even in those who harbour the same combination of GAA mutations. The result is an unpredictable genotype–phenotype correlation. The purpose of this study was to identify the genetic factors responsible for the progression, severity and drug response in LOPD. We report here on a detailed clinical, morphological and genetic study, including a whole exome sequencing (WES) analysis of 11 adult LOPD siblings belonging to two Italian families carrying compound heterozygous GAA mutations. We disclosed a heterogeneous pattern of myopathic impairment, associated, among others, with cardiac defects, intracranial vessels abnormality, osteoporosis, vitamin D deficiency, obesity and adverse response to enzyme replacement therapy (ERT). We identified deleterious variants in the genes involved in autophagy, immunity and bone metabolism, which contributed to the severity of the clinical symptoms observed in the LOPD patients. This study emphasizes the multisystem nature of LOPD and highlights the polygenic nature of the complex phenotype disclosed in these patients.

scholarly journals Geno-phenotypic characteristics of Ehlers–Danlos syndrome: difficulties of disease type identification and approaches to pathogenetic treatment

2021 ◽  
Vol 66 (1) ◽  
pp. 22-30
Author(s):  
E. A. Nikolaeva ◽  
A. N. Semyachkina
Keyword(s):  
Connective Tissue ◽  
Clinical Symptoms ◽  
Molecular Genetic ◽  
Symptomatic Treatment ◽  
Pathological Process ◽  
Social Adaptation ◽  
Molecular Defect ◽  
Ehlers Danlos Syndrome ◽  
Pathogenetic Therapy ◽  
Danlos Syndrome

Veltischev Researchand Clinical Institutefor Pediatricsofthe Pirogov Russian National Research Medical University, Moscow, Russia The article presents modern data on the most common monogenic connective tissue disease – Ehlers–Danlos syndrome. The authors describe two previous classifications of the syndrome: Berlin (1988) classification, which distinguishes 11 types of the disease, and Beyton (1998) classification, which includes 6 types of the syndrome and takes into account the results of molecular genetic studies. Particular attention is paid to a new classification, proposed by the International Consortium in 2017. This classification is based on the clinical and molecular genetic data and unites 13 types of Ehlers–Danlos syndrome, divided in 7 groups (A–G), depending on the main molecular defect. This defect determines the violation of various collagen structures (primary, spatial, cross-linking) and others constituents of the connective tissue (myomatrix, glycosaminoglycans, complement component, etc.). The classification provides general clinical symptoms for all types of the disease and comprehensive information on the specific signs of each of the 13 types of the syndrome.The authors discuss approaches to the pathogenetic therapy of the syndrome, the possibilities of symptomatic treatment, including both medications of different spectrum of action, and physiotherapeutic measures, exercise therapy. The complex of the listed therapeutic measures is aimed at stabilizing the main pathological process, preventing complications, improving the patient’s quality of life and social adaptation. The authors emphasize that correct patient management, targeted medical supervision and medical genetic counseling requires molecular genetic verification of the diagnosis.

scholarly journals Imaging Diagnosis of Transient Ischemic Attack in Clinic and Traditional Chinese Medicine

2019 ◽  
Vol 2019 ◽  
pp. 1-10
Author(s):  
Qigu Yao ◽  
Lincheng Zhang ◽  
Jing Zhou ◽  
Min Li ◽  
Weifeng Jing ◽  
...  
Keyword(s):  
Chinese Medicine ◽  
Traditional Chinese Medicine ◽  
Transient Ischemic Attack ◽  
Doppler Sonography ◽  
Clinical Symptoms ◽  
Transcranial Doppler Sonography ◽  
Imaging Modalities ◽  
Ischemic Attack ◽  
And Function ◽  
Ct And Mri

Neuroimaging plays a pivotal role in Transient Ischemic Attack (TIA). Generally, clinicians focus on the specific changes in morphology and function, but the diagnosis of TIA often depends on imaging evidence. Whereas Traditional Chinese Medicine (TCM) is concerned with the performance of clinical symptoms, they began to use imaging methods to diagnose TIA. CT and MRI are the recommended modality to diagnose TIA and image ischemic lesions. In addition, Transcranial Doppler sonography (TCD) and Digital Subtraction Angiography (DSA) are two acceptable alternatives for diagnosing TIA patients. This article elaborates the update of imaging modalities in clinic and the development of imaging modalities in TCM. Besides, multiple joint imaging technologies also will be evaluated whether enhanced diagnostic yields availably.

scholarly journals A hidradenitis suppurativa nőgyógyászati vonatkozásai

2019 ◽  
Vol 160 (8) ◽  
pp. 291-299
Author(s):  
Norbert Kiss ◽  
Dóra Plázár ◽  
Kende Lőrincz ◽  
András Bánvölgyi ◽  
Sándor Valent ◽  
...  
Keyword(s):  
Hidradenitis Suppurativa ◽  
Clinical Symptoms ◽  
Social Stigma ◽  
Chronic Inflammatory Disease ◽  
Hair Follicles ◽  
The Body ◽  
Childbearing Age ◽  
Severe Condition ◽  
Appropriate Treatment ◽  
Gynecological Care

Abstract: Hidradenitis suppurativa is a chronic inflammatory disease of the hair follicles, usually presenting after puberty on the apocrine gland-bearing areas of the body. It usually flares up periodically and can lead to a severe condition affecting the 20–40-year-old childbearing age group. HS occurs more commonly in women. The main clinical features consist of painful, cicatrizing nodules and abscesses which develop mostly in the axillary, inguinal, genital and perianal regions and also on the breasts. HS is often accompanied by severe pain and malodorous discharge, both of which cause significant psychological stress and social stigma. Our main aim with this review paper is to highlight the gynecological aspects of this disease, as many times – due to the typical localization of the disease – patients seek gynecological care first when they experience the first symptoms of this disease. The most important classification of HS is the Hurley scale, which is based on the severity of the clinical symptoms. In recent years, numerous clinical trials have been conducted to seek optimized care of HS patients. Several drugs are used for the treatment of HS, but in most cases, the treatment has to be switched many times. It is of great importance to carefully follow comorbidities and possible pregnancies as in these cases, careful selection of treatment is required. Thus, HS is not only a dermatological, but also a gynecological disease. With an appropriate treatment and follow-up, the disease can be effectively handled. Orv Hetil. 2019; 160(8): 291–299.

scholarly journals Clinical Characteristics of Transient Ischemic Attack Patients with Atrial Fibrillation: Analyses of a Multicenter Retrospective Study

2015 ◽  
Vol 5 (2) ◽  
pp. 84-90 ◽  
Author(s):  
Yuka Hama ◽  
Toshiyuki Uehara ◽  
Tomoyuki Ohara ◽  
Kazumi Kimura ◽  
Yasushi Okada ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Transient Ischemic Attack ◽  
Clinical Symptoms ◽  
Multivariate Logistic Regression Analysis ◽  
Ischemic Lesion ◽  
Lesion Pattern ◽  
Disturbance Of Consciousness ◽  
Using Data ◽  
Ischemic Attack ◽  
Single Lesion

Background: Atrial fibrillation (AF) is an important risk factor for transient ischemic attack (TIA). However, little is known about the characteristics of TIA patients with AF. This study investigated the characteristics of such patients, using data from a retrospective, observational, multicenter study. Methods: TIA patients admitted to 13 stroke centers in Japan within 7 days of onset between January 2008 and December 2009 were included. The present analyses compared baseline characteristics, clinical symptoms, findings from diffusion-weighted imaging (DWI), and clinical outcomes between patients with and without AF (AF and non-AF groups). Results: A total of 464 patients (292 men; mean age 68.5 ± 13.2 years) were registered. Of these, 79 patients (17%) had AF. Patients in the AF group were older (73.9 ± 9.1 vs. 67.4 ± 13.6 years, p < 0.001) and more likely to show disturbance of consciousness (13 vs. 6%, p = 0.046) and aphasia (9 vs. 3%, p = 0.007) than patients in the non-AF group. Although no difference in the overall DWI-positive rate was seen between the groups (28 vs. 20%, p = 0.102), a single lesion (23 vs. 10%, p < 0.001), a lesion ≥15 mm (11 vs. 4%, p = 0.006), and a single lesion ≥15 mm (11 vs. 2%, p < 0.001) on DWI were more frequent in the AF group. Multivariate logistic regression analysis identified increased age [odds ratio (OR) 1.04; 95% confidence interval (CI) 1.02-1.07] and DWI single lesion ≥15 mm (OR 5.67; 95% CI 1.92-16.7) as independently associated with the presence of AF. Conclusions: In this study, 17% of our TIA patients had AF. We found an association between the acute ischemic lesion pattern on DWI of a single lesion ≥15 mm and AF in TIA patients. These results might lead to a better diagnosis of TIA patients with AF.

Two Cases of Organophosphate Poisoning with Development of Intermediate Syndrome

1990 ◽  
Vol 9 (3) ◽  
pp. 187-189 ◽  
Author(s):  
M. Karademir ◽  
F. Ertürk ◽  
R. Koçak
Keyword(s):  
Conventional Therapy ◽  
Respiratory Muscles ◽  
Respiratory Support ◽  
Organophosphate Poisoning ◽  
Delayed Neuropathy ◽  
Organophosphorus Poisoning ◽  
Limb Muscles ◽  
Support Recovery ◽  
Carbamate Pesticide

Two cases of intermediate syndrome caused by organophosphorus poisoning are reported. Trichlorfon, propoxur (a carbamate pesticide) and fenthion were ingested in both attempts at suicide. After successful conventional therapy during the cholinergic phase, but before the time when the onset of delayed neuropathy might be expected, an intermediate syndrome developed. It affected the proximal limb muscles, neck flexors and respiratory muscles 2 d after pesticide ingestion. The two patients needed respiratory support. Recovery from the intermediate syndrome was complete in both patients, although one subsequently developed delayed neuropathy.

scholarly journals THE CASE OF THE DEBUT OF SYSTEMIC SCLERODERMA IN A PATIENT AGED 10

2018 ◽  
Vol 25 (3) ◽  
pp. 162-166
Author(s):  
А. V. BURLUTSKAYA ◽  
N. V. SAVELYEVA ◽  
A. V. STATOVA
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Large Range ◽  
Clinical Symptoms ◽  
Joint Damage ◽  
Skin Lesions ◽  
Systemic Scleroderma ◽  
Pathogenetic Therapy ◽  
Systemic Manifestations

Aim. To show the diversity and severity of clinical symptoms, a large range of diagnostic search, as well as difficulties in therapy in a 10-year-old patient with systemic manifestations of juvenile scleroderma.Materials and methods. A retrospective analysis of the anamnetic data, the course of the disease, laboratory and instrumental data, as well as the ongoing therapy of a 10-year-old patient with juvenile systemic scleroderma was carried out.Results. The patient was diagnosed with multiple typical sclerodermic foci of irregular shape, with different stages of lesion (edema, induration and atrophy). Joint damage was noted in the form of pseudoarthritis interphalangeal joints of hands with the formation of sclerodactily and right ankle joint. As a result of computed tomography of chest, signs of interstitial lung disease by the type of fibrous alveolitis have been revealed. After verification of the diagnosis, the patient was prescribed basic therapy: methylprednisolone and cyclophosphane.Conclusion. A clinical case of the debut of juvenile systemic scleroderma with rapidly progressive, widespread skin lesions, involvement of the musculoskeletal system and the development of fibrous alveolitis is presented. Due to intensive and long-term pathogenetic therapy (glucocorticoids, cyclophosphamide), the patient's condition was stabilized and the progression of interstitial lung disease was stopped.

scholarly journals Pharmaco-economic features of hospital treatment of acute community-acquired pneumonia in children

2021 ◽  
Vol 25 (3 (99)) ◽  
pp. 77-82
Author(s):  
Y. Nechytailo ◽  
N. Popelyuk ◽  
O. Dolzhenko
Keyword(s):  
Clinical Symptoms ◽  
Community Acquired Pneumonia ◽  
Point Of View ◽  
Fourth Generation ◽  
Hospital Treatment ◽  
Cost Of Treatment ◽  
Economic Point ◽  
Corticosteroid Hormones ◽  
Treatment Measures ◽  
Pathogenetic Therapy

The goal. Тo analyze the features of treatment and medical expenses in children hospitalized for acute community-acquired pneumonia. Materials and methods. The study analyzed medical records and examined 51 children aged 2 to 17 months hospitalized for pneumonia. In patients studied clinical symptoms, severity, structure and duration of basic treatment measures, their cost. Results. The duration of inpatient treatment was 13.3±0.62 days with subsequent outpatient treatment and rehabilitation. Antibiotics, antipyretics, antihistamines, mucolytics and corticosteroid hormones were used in the treatment. The total cost of treatment for one case averaged 2346.9±145.7 hryvnias. The most expensive were the costs of antibiotics, and the cheapest - the antipyretics. Given the community-acquired nature of the process, the initial use of third- and fourth-generation cephalosporins was irrational and significantly increased the cost of treatment. Conclusions. The introduction of a new model of medicine focuses on the optimization of treatment tactics and the rational choice of antibiotics for acute community-acquired pneumonia. In antibacterial therapy is still inadequate, from a clinical and economic point of view, the choice of drugs. In the treatment of this disease, the role of pathogenetic therapy to restore the processes of mucociliary clearance and prevention of dysbiosis on the background of the use of antibiotics has increased.

Intermediate myasthenia syndrome following acute organophosphates poisoning-an analysis of 21 cases

1998 ◽  
Vol 17 (1) ◽  
pp. 40-45 ◽  
Author(s):  
Fengsheng He ◽  
Haibing Xu ◽  
Fukuang Qin ◽  
Li Xu ◽  
Jinxiang Huang ◽  
...  
Keyword(s):  
Action Potentials ◽  
Neuromuscular Junctions ◽  
Cranial Nerves ◽  
Respiratory Muscles ◽  
Acetylcholinesterase Activity ◽  
Acute Poisoning ◽  
Muscular Weakness ◽  
Repetitive Nerve Stimulation ◽  
Pesticide Mixtures ◽  
Limb Muscles

1 Twenty-one cases out of 272 patients of acute organophosphates poisoning were diagnosed as intermediate syndrome (IMS) with a prevalence at 7.7%. The responsible OP insecticides included parathion, omethoate and some OP containing pesticide mixtures. IMS occurred mainly in severe OP poisoning patients who recovered from the acute cholinergic crisis at 7-75 h after the onset of acute poisoning. 2 Muscular weakness appeared in the following three categories of muscles: (1) neck flexors and proximal limb muscles; (2) muscles innervated by motor cranial nerves and/or (3) respiratory muscles. Blood acetylcholinesterase activity was persistently inhibited. Electroneuromyography (ENMG) with repetitive nerve stimulation (RNS) at frequencies of 20 Hz or 30 Hz in seven patients showed decrements of common muscle action potentials during the presence of myasthenia in five patients and became normal when their muscle strength recovered. 3 Mild IMS recovered within 2-7 days and had a favorable prognosis. Severe IMS patients with respiratory paralysis needed immediate endotracheal intubation and mechanical ventilation. Recovery of weakness of the respiratory muscles and proximal limb muscles took longer, the slowest being 30 days. Four of the patients died of respiratory paralysis and the fatality rate was 19%. 4 The mechanism of IMS remains to be further investigated. The RNS/ENMG changes indicate a post-synaptic block at the neuromuscular junctions. 5 In order to promote the recognition of this syndrome, we proposed to name the syndrome as Intermediate Myasthenia Syndrome (IMS).

scholarly journals Tongue ulcer in a patient with COVID-19: a case presentation

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Mohammad Bashir Nejabi ◽  
Noor Ahmad Shah Noor ◽  
Nahid Raufi ◽  
Mohammad Yasir Essar ◽  
Ehsanullah Ehsan ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Wide Spectrum ◽  
Clinical Signs ◽  
Dorsal Surface ◽  
Medical Sciences ◽  
Severe Condition ◽  
Case Presentation ◽  
Awareness Programs ◽  
Taste Alteration ◽  
Physical Findings

Abstract Background The emergence of COVID-19 has devastated many parts of the world. From asymptomatic to symptomatic, the virus causes a wide spectrum of presentations. COVID-19 patients may present with oral manifestations. In Afghanistan, where COVID-19 has severely strained the health care system, much of the population lacks proper oral hygiene. This makes the oral cavity a perfect site for SARS-CoV-2 to manifest clinical signs. Case presentation A 62-year-old male was evaluated in the Dentistry Teaching Clinic of Kabul University of Medical Sciences for a painful erosive lesion on dorsal surface of his tongue. He also complained of fever, cough, and taste alteration. He was referred to Afghan Japan Hospital for COVID-19 testing and tested positive. He was followed on for the treatment of SARS-CoV2. After 2 weeks, the patient tested negative and returned to the dentistry clinic for follow-up. Although there were no other signs of COVID-19, the painful erosive lesion on his tongue persisted. Oral evaluation were performed and the patient was advised to practice good hygiene. After 10 days, we observed an asymptomatic geographic tongue without fever and myalgias and the lesion of dorsal surface of tongue improved from severe condition to moderate. Conclusion In conclusion, patients with suspected or confirmed SARS-CoV-2 should be screened for symptoms and physical findings in the oral mucosa To prevent such an outcome, awareness programs need to be implemented for the diagnosis and management of clinical symptoms among patients.

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