scholarly journals Diagnostic Approach to Proximal Myopathy

2021 ◽  
pp. 191-207
Author(s):  
Hani Almoallim ◽  
Hadiel Albar ◽  
Fahtima Mehdawi

AbstractPatients with muscle disorders are a diagnostic challenge to physicians, because of the various ways of presentation. A comprehensive approach should be followed systematically in order to reach the correct diagnosis. Weakness is a common symptom among patients including those with central or peripheral nervous systems diseases and those with muscular and/or neuromuscular diseases. Muscle weakness is not only a regular finding in rheumatologic diseases, but in inflammatory myopathies as well. This chapter focuses on skills needed to approach any patient that presents with weakness, specifically proximal myopathy.

2014 ◽  
Vol 155 (1) ◽  
pp. 3-10
Author(s):  
Levente Bodoki ◽  
Melinda Nagy-Vincze ◽  
Zoltán Griger ◽  
Andrea Péter ◽  
Csilla András ◽  
...  

Idiopathic inflammatory myopathies are systemic, immune-mediated diseases characterized by proximal, symmetrical, progressive muscle weakness. The aim of this work is to give an overview of the biological therapy used in the treatment of idiopathic inflammatory myopathies. The authors also focus on novel results in the therapy directed against the B- and T-cells. They emphasize the importance of new trials in these diseases which may lead to the introduction of novel therapeutic options in these disorders. Orv. Hetil., 2014, 155(1), 3–10.


2021 ◽  
pp. 1-3
Author(s):  
Sabine Adler

Nailfold videocapillaroscopy (NVC) is an easy tool used for the assessment of patients with Raynaud’s phenomenon (RP) as possibly associated with systemic sclerosis (SSc). Recent insights have also highlighted its role in the diagnostic assessment of idiopathic inflammatory myopathies (IIMs). The aim of this study is to describe the diagnostic role of NVC in a series of 361 consecutive patients with interstitial lung disease (ILD). All the patients were assessed by clinical pulmonary and rheumatic examinations, blood exams, high-resolution computed tomography and NVC. NVC was considered positive only in the presence of avascular areas or giant capillaries, but also, the presence of bushy capillaries (BCs) was recorded. NVC was positive in 17.7% of ILD patients and in 78.1% of ILD patients associated with a diagnosis of connective tissue disease (CTD). In 25% of SSc-ILD patients, NVC proved necessary for a correct diagnosis. The presence of BCs and/or NVC positivity in ILD patients with normal levels of creatine phosphokinase is associated with amyopathic IIM, regardless the presence of RP. In conclusion, NVC is useful for the diagnostic assessment of incomplete forms of CTD and in amyopathic IIMs. NVC should be considered in the diagnostic assessment of ILD patients regardless of the presence of RP.


2021 ◽  
Vol 14 (3) ◽  
pp. e237669
Author(s):  
Susan Addley ◽  
Moiad Alazzam ◽  
Catherine Johnson ◽  
Hooman Soleymani majd

Gastrointestinal stromal tumours (GISTs) are rare - and rectovaginal extragastrointestinal stromal tumours (RV-EGISTs) even rarer. We share a case of RV-EGIST, complemented by high-quality radiological and surgical images. A review of current literature pertaining to RV-EGIST is also included. Our case report highlights the diagnostic challenge presented by extragastrointestinal stromal tumours. Differentiated from overlapping pathologies only by targeted application of immunohistopathology and cytogenetics, the inclusion of RV-EGIST in the differential diagnosis of a rectovaginal tumour is essential to making this correct diagnosis. Primary surgery is the treatment of choice for RV-EGIST if complete cytoreduction can be achieved, combined with adjuvant tyrosine kinase inhibitor (TKI) therapy for those with high-risk features to further reduce rates of future recurrence.


2009 ◽  
Vol 66 (8) ◽  
pp. 671-674 ◽  
Author(s):  
Zorana Djakovic ◽  
Sonja Vesic ◽  
Maja Tomovic ◽  
Jelena Vukovic

Background. Dysphagia can be a serious problem in patients with inflammatory myopathies. It may be associated with nutritional deficit, aspiration pneumonia, and poor prognosis. Case report. We presented a 60-year-old male, suffering from difficulty in swallowing, pain and weaknes in the proximal parts of his extremities, and skin manifestation. Laboratory findings showed increased creatine kinase and aldolase. Antinuclear antibodies to HEP-2 subtrate revealed titer of 1:40. Electromyoneurography demonstrated evidence of a proximal myopathy. A muscle biopsy revealed myositis. The baruim swallow test was remarkable for regurgitation, and nasal emerging of barium. Nuclear magnetic resonance images of cranium was normal. Tumor markers CEA, and Ca 19-9 were increased. A dose of 1 mg daily prednisolone was administered and percutaneous enteral feeding was performed. Two months later, the patient developed febrile state, aspiration pneumonia, and died due to respiratory failure. Conclusion. In cases of dermatomyositis with the serious dysphagia, percutaneous endoscopic gastrostomy should be performed as soon as possible. Owerall survival rate is low, even with an adequate therapy administration. Inflammatory myopathies should be considered in any patient with oropharyngeal dysphagia.


2020 ◽  
Vol 20 (1) ◽  
pp. 104 ◽  
Author(s):  
Amit Sharma ◽  
Siddhartha Sinha ◽  
Amit Narang ◽  
Dushyant K. Chouhan ◽  
Sumit Gupta

Proximal muscle weakness is a common presentation in paediatric-orthopaedic clinics and is frequently paired with a vitamin D deficiency diagnosis. Recently, side effects of the extensive use of antiepileptic and antipsychotic drugs such as sodium valproate in childhood disorders are being documented. Sodium valproate causes a time-dependent, drug-induced proximal myopathy. We report a 13-year-old female patient who presented at the Orthopaedic Outpatient Department at Lady Hardinge Medical College, New Delhi, India, in 2019 with an abnormal gait. The patient was taking a combination therapy of sodium valproate, risperidone and trihexyphenidyl for absence seizures and a mood disorder. Following clinical investigations, the patient was diagnosed with proximal myopathy. As a result of elevated serum alkaline phosphatase and creatine kinase myocardial band levels, sodium valproate was replaced with ethosuximide and a carnitine supplementation was prescribed. The patient fully recovered and regained full mobility. Proximal myopathy had been incorrectly managed and assumed to be caused by a vitamin D deficiency.Keywords: Muscle Weakness; Carnitine; Myopathy; Valproic Acid; Vitamin D Deficiency; Gait; Case Report; India.


2021 ◽  
pp. 22-23
Author(s):  
Anil Kumar ◽  
Rekha Rani ◽  
Hamid Wani

Objective: Acute appendicitis is a common surgical condition presented to emergency. In this study we evaluated the clinical presentation, management and outcome of acute appendicitis complicating pregnancy at a tertiary care centre. Material And Methods: A total of 20 cases of pregnant women who were diagnosed as a case of acute appendicitis were studied from January 2018 to December 2020. Results: Total number of patients diagnosed with acute appendicitis were 20. There were 10 (50%) patients in rst trimester , 6 (30%) in second and 4 (20%) in the third trimester. Abdominal pain was the most common symptom seen in all patients. 12 (60%) patients were multigravida whereas 8 (40%) patients were primigravida. Duration of abdominal pain was 6 hours to 5 days with median of 30 hours. Right lower quadrant was the most common site of pain. Rebound tenderness was seen in 14 (70%) patients. Total leucocyte was raised in 14 (70%)cases. Ultrasound was done in all patients showing viable fetus and features of acute appendicitis in 12 (60%) cases. Surgery was done in 16 (80%) cases. Midline laparatomy was done in 3 patients whereas 4 (20%) patients were managed conservatively with antibiotics. Postoperative tocolytics were given in 6 patients. Postoperative complications such as wound infections seen in 5 cases and pelvic abscess in 1 case. Fetal loss was seen in 2 (10%)cases. Conclusion: Diagnosis of acute appendicitis during pregnancy can be difcult due to anatomical and biochemical changes during pregnancy. Correct diagnosis can be achieved by taking proper history, clinical examination and relevant investigations. Surgery remains the treatment of choice.


Author(s):  
Samantha Prigmore ◽  
Vikki Knowles,

This chapter addresses the fundamental nursing in managing breathlessness. Every nurse should possess the knowledge and skills to assess patients holistically, to select and implement evidence-based strategies, to manage breathlessness, and to review the effectiveness of these to inform any necessary changes in care. The nurse has a key role in managing this often frightening symptom, which may be caused by many disorders, including certain heart and respiratory conditions, strenuous exercise, or anxiety. Breathlessness is described as a distressing subjective sensation of uncomfortable breathing (Mosby, 2009) and can be expressed as an unpleasant or uncomfortable awareness of breathing, or of the need to breathe (Gift, 1990). The term dyspnoea, also meaning breathlessness, is derived from the Greek word for difficulty in breathing. Whilst it is difficult to estimate the prevalence of dyspnoea, it is apparent when we exercise beyond our normal tolerance levels; pathologically, dyspnoea occurs with little or no exertion and is a symptom response to different aetiologies (causes of illness). Breathlessness is a common symptom in patients with both cardiac (McCarthy et al., 1996) and respiratory disease (Dean, 2008), and also in people with neuromuscular diseases approaching the end of life; this can prove difficult and distressing to manage (see Chapter 18 Managing End-of-Life Care). There is a peak incidence of chronic dyspnoea in the 55–69 age group (Karnani, 2005), and the prevalence and severity of dyspnoea increases with age. This is associated with an increase in mortality and reduction in quality of life (Huijnen et al., 2006). It is estimated that 70% of all terminal cancer patients experience breathlessness in their last 6 weeks of life (Davis, 1997). Both physiological and psychological responses (including pain, emotion, and anxiety) can lead to an increase in respiratory rate. Breathing is controlled by the respiratory centre in the medulla of the brain. Higher centres in the cerebral hemispheres can voluntarily control respiratory rate so that breathing can be temporarily stopped, slowed, or increased. The respiratory centre generates the basic rhythm of breathing, with the depth and rate being altered in response to the body’s requirements, mainly by nervous and chemical control (Ward and Linden, 2008).


2020 ◽  
pp. 003693302094126
Author(s):  
Nives Jonjić ◽  
Toni Valković ◽  
Danijela Veljković Vujaklija ◽  
Koviljka Matušan Ilijaš

Hodgkin lymphoma (HL) is an uncommon malignancy usually limited to the lymph nodes and lymphatic system while extranodal involvement is much less common than in non-Hodgkin lymphoma. The current report presents an unusual case of primary classical HL (cHL), nodular sclerosis type with mixed cellularity in buttock soft tissue of 78-year old man. Primary lymphoma of the gluteal muscle is a rare disease and primary cHL is even rarer. In addition, to this unusual extranodal presentation, the present case highlight a diagnostic challenge in fine-needle biopsy masquerading a low grade sarcoma, primarily myxoinflammatory fibrosarcoma or an inflammatory lesion. However, surgical biopsy and immunohistochemistry guided correct diagnosis that was of major interest for further successful treatment.


Author(s):  
Hector Chinoy ◽  
Robert G. Cooper

Polymyositis (PM), dermatomyositis (DM), and inclusion body myositis (IBM) form part of the idiopathic inflammatory myopathies (IIM), a heterogeneous group of rare autoimmune diseases characterized by an acquired proximal muscle weakness, raised muscle enzymes (including creatine kinase), inflammatory cell infiltrates in muscle biopsy tissue, electrophysiological abnormalities, and presence of circulating myositis-specific/myositis-associated autoantibodies. The underlying aetiology of IIM is poorly understood, but likely involves interactions between environmental and genetic risk factors. Myositis may also manifest in association with other connective tissue disorders. The predominant clinical presentation of IIM is skeletal muscle weakness, but many extramuscular features can also occur. Access to good neuropathological support is essential in securing an accurate IIM diagnosis and excluding non-inflammatory myopathies, although IBM is often difficult to distinguish from PM. Antibody testing can help define IIM clinical subtypes, including cancer-associated myositis, predict prognosis, and help in optimizing treatment decisions. MRI can be invaluable for differentiating disease activity from damage, and detecting treatment-induced interval changes. Therapeutic effectiveness of new and existing treatments (where the evidence base remains poor) depends on making a prompt diagnosis and initiating early and appropriately aggressive treatment to prevent establishment of muscle damage. This chapter attempts to summarize the salient features of IIM and update the reader about currently used diagnostics and treatment paradigms in this rare and understudied disease.


2019 ◽  
Vol 7 (1) ◽  
pp. 29-31
Author(s):  
Vera Mahler

Background: Natural rubber latex (NRL) allergy is commonly diagnosed according to medical history, skin allergy tests, and serological analyses. However, skin tests are increasingly being abandoned because of (i) their time-consuming nature, (ii) latex preparations for skin tests being not commercially available, and (iii) the use of in-house prepared test solutions is becoming ever more difficult due to increasing regulatory hurdles. In this light, we have evaluated differences in the profiles of current and former patients with suspected latex allergy. Methods: Sera of skin test-positive patients from a historic cohort (1995-2001, n = 149 patients) and currently (2014-2015, n = 48 patients) were simultaneously analyzed for specific IgE to latex by ImmunoCAP. If the serological screening was positive (≥ 0.35 kU/l), component-resolved diagnostics including profilins and cross-reactive carbohydrate determinants (CCDs) were performed. Results: In contrast to 88% (131/149) of the skin test-positive patients from the 1990s, only 51.1% (24/47) of the current cohort were found positive for specific IgE to latex. While 48.3% (72/149) of the patients had a convincing positive history in the 1990s, current skin test-positive patients rarely reported a relevant medical history (8.5%, 4/47). Specific IgE levels to latex were significantly higher in former patients with suspected latex allergy (p < 0.001) than in former sensitized individuals without allergy. However, this significant difference was lost in current allergic and sensitized patients with positive skin tests. Conclusion: Sensitization profiles in patients with latex allergy have changed significantly over the last 2 decades. Discrimination between NRL sensitization and clinical allergy remains a diagnostic challenge. Our data highlight the need for a combination of all 3 criteria, i.e., patient history, skin test, and analysis of specific IgE, for a correct diagnosis of latex allergy.


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