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Rheumatic and musculoskeletal disorders
Published in Rachel U Sidwell, Mike A Thomson, Concise Paediatrics, 2020
Rachel U Sidwell, Mike A Thomson
One of the overlap syndromes. This may not be a distinct entity and includes features of SLE, rheumatoid arthritis, dermatomyositis and scleroderma. Mostly girls >6 years are affected. High titres of anti-RNP (ribonucleoprotein) autoantibodies and speckled ANA. Predominantly a moderate polyarthritis and features of peripheral scleroderma (sclerodactyly).
Diagnosis and differential diagnosis of Parkinson’s disease
Published in Jeremy Playfer, John Hindle, Andrew Lees, Parkinson's Disease in the Older Patient, 2018
Idiopathic Parkinson’s disease and other parkinsonian syndromes are clinical diagnoses, and ongoing review of atypical features for IPD will increase the diagnostic accuracy. In the older patient, the astute clinician will weigh up potential confounders to accurate diagnosis, such as centrally acting drugs or common concurrent morbidity like cerebral arteriopathy, diabetes or arthritis. The possibility of overlap syndromes or more than one diagnosis should always be considered. A summary of a practical clinical approach for diagnosis is shown in Figure 4.1. Where available, plain and functional neuroimaging may be used as an adjunct to clinical diagnosis in the presence of atypical features or a poor or unsustained response to dopaminergic therapy. Finally, it should be remembered that even in expert hands, some cases of parkinsonism will be unclassifiable.162 The emergence of genetic factors and molecular biology will increasingly challenge our traditional clinicopathological diagnostic approach to parkinsonian disorders.
Arthritis
Published in Harry Griffiths, Musculoskeletal Radiology, 2008
The differential diagnosis between ankylosing spondylitis and the other spondyloarthropathies is often not as easy as it sounds; however, patients with Reiter’s syndrome usually have urethritis, whereas those with ankylosing spondylitis do not. Patients with enteropathic arthritis have bowel problems and patients with psoriatic arthritis are older and usually have visible psoriasis. Even so, in some patients, one is left with the diagnosis of an “overlap” syndrome.
Biological therapies in patients with liver disease: are they really lifesavers?
Published in Expert Opinion on Biological Therapy, 2022
Giovanni Vitale, Stefano Gitto, Claudia Campani, Laura Turco, Anna Baldan, Fabio Marra, Maria Cristina Morelli
Sometimes, overlap syndromes result when features of different AILDs coexist in the same patient, such as for AIH-PBC overlap syndrome or AIH-PSC overlap syndrome [1]. These can be associated with the presence of one or more autoantibodies but, to our knowledge, the etiology remains unknown, and the pathogenesis is poorly understood [2]. When treated early with ursodeoxycholic acid (UDCA), patients with PBC usually have a good prognosis where the obeticholic acid is helpful in adults with an inadequate response to UDCA, whereas patients with AIH often obtain complete remission with first-line therapy, including corticosteroids alone or in combination with azathioprine. On the other hand, PSC is the most aggressive disease, usually affecting young subjects, resulting in an increased risk of developing cholangiocarcinoma (CCA), and no drugs capable of changing natural history are approved.
Neuro-ophthalmic Complications of Immune-Checkpoint Inhibitors
Published in Seminars in Ophthalmology, 2021
Loulwah Mukharesh, Bart K Chwalisz
Presenting symptoms and signs often included ptosis, diplopia, bulbar weakness, facial/limb weakness, myalgia.56–60 Although respiratory and cardiac involvement occurs less commonly, it is very important for clinicians to be aware of this overlap syndrome given the high associated mortality.56,58,59 Diagnosis includes elevated creatine kinase levels (CK), with special attention to troponin levels given the possible association of fatal concurrent myocarditis.56 Additionally, anti-striational antibodies were often positive if tested in patients with myasthenia gravis and concurrent myositis after nivolumab treatment.57 Muscle biopsy is frequently helpful in establishing the diagnosis, especially in patients who develop oculobulbar myositis with elevated CK levels as this condition can mimic (and overlap with) immune-related or idiopathic myasthenia gravis.59 In addition, histology may help stratify risk, as biopsy-proven immune-related (PD-1 induced) necrotizing myopathy often leads to a fatal outcome despite receiving immunotherapy, and thus suggests the necessity for early aggressive immunosuppression and prognosis counseling.59
Comorbidities and mortality risk factors for patients with bronchiectasis
Published in Expert Review of Respiratory Medicine, 2021
David Clofent, Antonio Álvarez, Letizia Traversi, Mario Culebras, Karina Loor, Eva Polverino
A significant number of patients with bronchiectasis manifest persistent airway obstruction and could fit in the diagnosis of COPD or asthma if they also share other clinical features [55]. These associations, often defined as ‘overlap syndromes’, have recently been widely recognized and discussed, although it is still difficult to understand their underlying pathological mechanisms and natural history. The associations of bronchiectasis and COPD or asthma seem to have a differential spectrum of clinical manifestations, such as, for instance, bronchial obstruction and recurrent airway infections; however, there are only limited recommendations regarding their clinical management in practice. In the absence of clear scientific evidence and specific references, in most cases both asthma and COPD are managed as comorbidities rather than causes of bronchiectasis.