scholarly journals Pseudohypertrophic myopathy in a child with hypothyroidism (Kocher—Debre—Semelaigne syndrome)

2017 ◽  
Vol 63 (2) ◽  
pp. 121-123
Author(s):  
Elena A. Bogova ◽  
Tatyana Yu. Shiryaeva
Keyword(s):  
Lactate Dehydrogenase ◽  
Muscle Strength ◽  
Early Diagnosis ◽  
Clinical Picture ◽  
Muscle Hypertrophy ◽  
Final Height ◽  
Clinical Signs ◽  
Delayed Treatment ◽  
Laboratory Sign ◽  
Timely Treatment

The Kocher-Debre-Semelaigne syndrome (KDSS) is a rare disease that clinically manifests as hypothyroidism and muscle pseudohypertrophy of the trunk and extremities. KDSS occurs mainly in countries where there is no screening for congenital hypothyroidism; however, this syndrome can develop when there is acquired hypothyroidism. In this syndrome, muscle hypertrophy is false (pseudohypertrophy); it is not accompanied by an increase in muscle strength but, on the contrary, leads to a decrease in muscle strength and the development of muscle hypotension. Increased levels of creatinine phosphokinase (CPK) and lactate dehydrogenase (LDH) are the characteristic laboratory sign of myopathy in this syndrome. The signs of hypothyroidism and muscle pseudohypertrophy are reduced by levothyroxine therapy. Indicators of the final height in the case of delayed treatment may remain poor. The clinical signs characteristic of the disease, especially in the presence of a nonspecific clinical picture of hypothyroidism, enable an early diagnosis and timely treatment, which emphasizes the importance of doctors’ awareness of this syndrome.

scholarly journals Novel Coronavirus – a Challenge in Diagnosing and Timely Treatment, and its Impact on Population Health Status

Folia Medica ◽  
2021 ◽  
Vol 63 (3) ◽  
pp. 315-320
Author(s):  
Pavlina Peneva
Keyword(s):  
Health Status ◽  
Economic Crisis ◽  
Traumatic Stress ◽  
Clinical Picture ◽  
Respiratory Infections ◽  
Psychological Effects ◽  
Delayed Treatment ◽  
The World ◽  
Novel Coronavirus ◽  
Timely Treatment

In 2019, the world faced another of the potentially deadly viruses affecting humanity. The new virus, COVID-19, was extremely virulent when it first appeared, with aggressive behaviour toward people unprepared at the time to deal with the infection.Months later, we already know much about its pathophysiology, but new and unknown pathophysiological aspects of the disease are revealed in time. The clinical picture is not unequivocal at times, with symptoms quite unlike those we have previously considered normal in respiratory infections tending to appear. There have been reports of an increase in the frequency of neoplasms or disease progression due to delayed treatment. Treatment of COVID-19 is still a mirage, and people are struggling with the implications for recovery, the health and economic crisis, and the psychological effects of traumatic stress.

To the clinical picture of silent syphilitic aortitis

1935 ◽  
Vol 31 (10) ◽  
pp. 1201-1204
Author(s):  
I. G. Sipitiner
Keyword(s):  
Early Diagnosis ◽  
Clinical Picture ◽  
Clinical Signs ◽  
Late Diagnosis ◽  
Vascular Lesions ◽  
Aortic Lesion ◽  
Anatomical Changes ◽  
Long Time ◽  
Initial Forms ◽  
Syphilitic Aortitis

An unfavourable prediction of syphilitic aortic lesion is due to its late diagnosis. The key to the success of therapy is in early diagnosis of s. a., when there are no persistent anatomical changes and the main clinical signs have not yet developed. The initial forms of s. a. have been disguised for a long time, distinguishing them from other vascular lesions which symptoms are usually quite definite.

scholarly journals Osteomyelitis of the Knee Following Intra-Articular Injections: A Case Series

2020 ◽  
Vol 58 (223) ◽  
pp. 195-199
Author(s):  
Anand Sobhraj Devnani ◽  
Raymond Dieu Kiat Yeak ◽  
Che Hamzah Fahrudin
Keyword(s):  
Early Diagnosis ◽  
Septic Arthritis ◽  
Clinical Signs ◽  
Case Series ◽  
Adult Patients ◽  
Delay In Diagnosis ◽  
Delayed Treatment

Septic arthritis of the knee is rare in adults. This leads to difficulty in making early diagnosis that invariably leads to delayed treatment with consequent destruction of the joint. The delay in diagnosis is largely attributed to absence of clinical signs of flagrant infection. Reported are three adult patients who presented with painful swollen knee and inability to walk few weeks after intra-articular injection for osteoarthritis. This paper discusses the cases in which the difficulties in the early diagnosis of septic arthritis of knee in adults led to the development of osteomyelitis.

scholarly journals Osteoarthritis in pet guinea pigs: an update on diagnosis, treatment and management

2021 ◽  
Vol 26 (6) ◽  
pp. 100-106
Author(s):  
Emma Keeble
Keyword(s):  
Quality Of Life ◽  
Early Diagnosis ◽  
Guinea Pigs ◽  
Advanced Disease ◽  
Early Stage ◽  
Clinical Signs ◽  
Nutritional Supplements ◽  
Lifestyle Changes ◽  
Early Age

This article reviews the current literature on osteoarthritis in pet and laboratory guinea pigs. The associated clinical signs, diagnosis and treatment of osteoarthritis in pet guinea pigs will be discussed, with options for analgesia detailed. This condition is thought to be common in pet guinea pigs, even from an early age in some genetic lines, although osteoarthritis often goes undiagnosed in this species until advanced disease is present, posing a major welfare concern. Increasing awareness of this condition in veterinary practitioners should aid early diagnosis in pets and help improve their quality of life. Prevention may be possible using oral protective nutritional supplements to slow down the progression of this disease at an early stage. Lifestyle changes are also discussed for the management of this condition in pet guinea pigs.

Cardiomyopathies in the clinical picture of emergency cardiology

1998 ◽  
Vol 79 (1) ◽  
pp. 23-27
Author(s):  
I. A. Latfullin ◽  
O. V. Bogoyavlenskaya
Keyword(s):  
Differential Diagnosis ◽  
Early Diagnosis ◽  
Transesophageal Echocardiography ◽  
Clinical Picture

The peculiarities of the clinical picture and diagnosis of uncoronarogenic lesions of the myocardium in a period of 5 years are studied. The differential diagnosis of cardiomyopathies and myocardial dystrophies is performed, emphasizing the informativity of contrast and transesophageal echocardiography. Registration of electrocardiographic and echocardiographic data allows to choose among patients the persons demanding the expanding cardiologic examination that provides early diagnosis of latent forms of cardiomyopathies.

scholarly journals Monitoring respiratory muscle strength assists in early diagnosis of respiratory dysfunction as opposed to the isolated use of pulmonary function evaluation in amyotrophic lateral sclerosis

2013 ◽  
Vol 71 (3) ◽  
pp. 146-152 ◽  
Author(s):  
Guilherme Fregonezi ◽  
Palomma Russelly Saldanha Araújo ◽  
Tathiana Lindemberg Ferreira Macêdo ◽  
Mario Emilio Dourado Junior ◽  
Vanessa Regiane Resqueti ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Muscle Strength ◽  
Early Diagnosis ◽  
Pulmonary Function ◽  
Healthy Subjects ◽  
Respiratory Muscle ◽  
Function Evaluation ◽  
Respiratory Muscle Strength ◽  
Respiratory Dysfunction ◽  
Lateral Sclerosis

ObjectiveIt was study the relationship between respiratory muscle strength and forced vital capacity (FVC) in patients with amyotrophic lateral sclerosis (ALS) versus healthy subjects.MethodsPulmonary function and respiratory muscle strength [maximal inspiratory (PImax), maximal expiratory (PEmax) and sniff nasal inspiratory pressure (SNIP)] were assessed in patients with ALS and healthy subjects, matched using cutoffs established in the literature for impaired pulmonary function and respiratory muscle weakness.ResultsTwenty-eight ALS patients and 28 healthy subjects were studied. We found sensitivity and specificity for PImax, PEmax and SNIP of 75/58%, 81/67% and 75/67%. The Receiver Operating Characteristic curve (ROC curve) indicated that the variables PImax, PEmax and SNIP can identify differences in respiratory muscle strength between ALS and healthy individuals at 0.89, 0.9 and 0.82, respectively. A positive correlation was recorded between FVC (%) versus SNIP, PImax and PEmax.ConclusionIn ALS, monitoring respiratory muscle strength assists in early diagnosis of respiratory dysfunction as opposed to the isolated use of FVC.

scholarly journals Detectability of the peripheral and axial manifestations of psoriatic arthritis in patients with psoriasis in dermatological practice

2019 ◽  
Vol 13 (4) ◽  
pp. 48-54
Author(s):  
M. N. Chamurlieva ◽  
E. Yu. Loginova ◽  
T. V. Korotaeva
Keyword(s):  
Back Pain ◽  
Psoriatic Arthritis ◽  
Early Diagnosis ◽  
Clinical Signs ◽  
Severity Index ◽  
The Body ◽  
Inflammatory Back Pain ◽  
Patient Complaints ◽  
Asas Criteria ◽  
Mechanical Back Pain

Psoriatic arthritis (PsA) is a heterogeneous disease manifested by peripheral arthritis, dactylitis, spondylitis, and enthesitis. PsA is often undiagnosed by dermatovenerologists because of the difficulty in identifying a variety of clinical signs. The early diagnosis of PsA and the accurate assessment of all its symptoms are necessary for the timely choice of optimal therapy.Objective: to assess the detectability of clinical signs of PsA in patients with psoriasis in dermatological practice.Patients and methods. The investigation enrolled 103 patients (47 men and 56 women) (mean age, 44.0±13.7 years) with psoriasis (its mean duration, 10.7±10.2 years), the average prevalence and severity according to the Body Surface Area (BSA) and the Psoriasis Area and Severity Index (PASI) were 9.3±13.6% and 15.4±12.5 scores, respectively. All the patients completed the Psoriasis Epidemiology Screening Tool (mPEST) and were examined by a dermatovenerologist and a rheumatologist. The diagnosis of PsA was based on the Classification Criteria for Psoriatic Arthritis (CASPAR). The investigators evaluated arthritis, dactylitis, enthesitis, and inflammatory back pain (IBP) according to the rheumatological standards: IBP by the Assessment of SpondyloArthritis International Society (ASAS) criteria, and enthesitis by the Leeds Enthesitis Index (LEI).Results and discussion. Sixty-one (59.2%) of the 103 patients with psoriasis were found to have PsA on the basis of the CASPAR criteria and the rheumatologist's examination. The dermatovenerologist diagnosed arthritis in a significantly smaller number of cases than did the rheumatologist: in 15 (24.6%) and 35 (57.4%) of the 61 patients (p<0.001), respectively. The dermatovenerologist and the rheumatologist demonstrated no significant differences in their clinical evaluation of dactylitis: it was detected in 37 (60.7%) and 40 (65.6%) of the 61 patients, respectively (p=0.32). Based on patient complaints and mPEST findings, the dermatovenerologist recorded pain in the calcaneal region in 32 (52.5%) patients. The rheumatologist identified ulnar, knee, and calcaneus enthesitis in 11 (18%), 8 (13.1%), and 25 (41%) patients, respectively. Based on complaints and mPEST findings, the dermatovenerologist detected back pain in 30 (49.2%) of the 61 patients. The rheumatologist diagnosed IBP in 21 (70%) of these 30 patients and mechanical back pain in 9 (30%). Thus, IBP was noted in 34.4% of PsA patients. Tendonitis was undiagnosed by the dermatovenerologist; the rheumatologist identified wrist tendonitis in 13 (21.3%) of the 61 patients with PsA.Conclusion. Dermatovenerologists frequently underestimate damage to the spine and entheses in patients with psoriasis. The introduction of the ASAS criteria for IBP and methods for assessing enthesitis in dermatological practice can improve the early diagnosis of axial lesion in PsA in patients with psoriasis.

scholarly journals Early Diagnosis and Treatment of Patients with Mucopolysaccharidosis IV and VI

2016 ◽  
Vol 23 (3) ◽  
pp. 63-70
Author(s):  
L. K Mikhailova ◽  
T. V Sokolova ◽  
O. A Polyakova
Keyword(s):  
Early Childhood ◽  
Early Diagnosis ◽  
Enzyme Replacement Therapy ◽  
Clinical Picture ◽  
Surgical Intervention ◽  
Clinical Manifestations ◽  
Dna Testing ◽  
Enzyme Replacement ◽  
Skeletal Changes ◽  
Fatal Complications

Mucopolysaccharidosis (MPS) is an orphan pathology characterized by polymorphism of clinical manifestations and development of typical skeletal changes. However in early childhood the clinical picture is not clear that leads to misdiagnosis and results in inadequate management of patients including unjustified surgical intervention. Early clinical and roentgenologic changes specific to mucopolysaccharidosis IV and VI that enable to suspect the pathology development, to perform required examination with compulsory confirmation by DNA testing results and prescribe vital enzyme replacement therapy as soon as possible are presented. Early diagnosis and initiation of etiotropic treatment and timely correction of the occurring pathology ensure prevention of fatal complications.

scholarly journals Common variable immunodeficiency – case report

2013 ◽  
Vol 3 (2) ◽  
pp. 170-172
Author(s):  
Emina Vukas ◽  
Aida Dizdarević ◽  
Senka Mesihović - Dinarević ◽  
Adisa Čengić
Keyword(s):  
T Cells ◽  
Dendritic Cells ◽  
Case Report ◽  
Immune System ◽  
Primary Immunodeficiency ◽  
Common Variable Immunodeficiency ◽  
Clinical Picture ◽  
Clinical Signs ◽  
Common Variable

Common variable immunodeficiency (CVID) or acquired hypogammaglobulinemia is the type of primary immunodeficiency. Deregulation of the immune system, leading to hypogammaglobulinemia, defective activation and proliferation of T cells and dendritic cells, and malfunction of the cytokines are observed in CVID. The clinical picture of CVID varies, any organ or system can be affected, therefore the diagnosis is often difficult and delayed and sometimes is not always possible. This article describes a twelve years old boy with all the clinical signs of immunodeficiency, as confi rmed by laboratory. The main treatment consists of life-long immunoglobulin substitution in intravenous or subcutaneous form.

scholarly journals Revisiting the question of cutaneous vasculitis classification

2021 ◽  
Vol 97 (4) ◽  
pp. 48-59
Author(s):  
Alexey V. Samtsov ◽  
Vladislav R. Khairutdinov ◽  
Evgeny V. Sokolovskiy ◽  
Muza M. Kokhan ◽  
Irena E. Belousova ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Clinical Picture ◽  
Integrated Assessment ◽  
Clinical Signs ◽  
Cutaneous Vasculitis ◽  
Vascular Lesions ◽  
Instrumental Methods

Currently, there is no generally accepted terminology and classification of vasculitis and vascular cutaneous disorders. In Russia there are various approaches to the classification of cutaneous vasculitis vascular lesions are classified according to clinical signs, etiology and pathogenesis. Significant difficulties are caused by the lack of a unified terminology, clear diagnostic criteria for vasculitis and the existence of a large number of duplicate names, among which there are many eponymous terms. This issue is one of the most complex, confusing and debatable not only in dermatovenereology, but also in other disciplines. Modern principles of diagnosis of cutaneous vasculitis are based on an integrated assessment of the data of the disease history, clinical picture, laboratory and instrumental methods of examination. For standardization of definitions and diagnostic criteria, it is necessary, first of all, to adopt a unified interdisciplinary classification of vasculitis, which will be based on the etiopathogenetic principle. The applied unified classification of cutaneous vasculitis is proposed for discussion.

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