Biomedical subjects
Publications and source records attributed to Carin G Faber.
We describe a case of dynamic scapular winging due to trapezius muscle paresis following a sport-related injury of the accessory nerve. The typical clinical findings related to the peripheral nerve involved, the importance of neurophysiologic work-up, and possibilities for treatment are discussed.
We describe a patient with severe small fiber neuropathy (SFN) accompanied by autonomic involvement, who was experimentally treated with infliximab, an anti-tumour necrosis factor-alpha (TNF-alpha) therapy. Six months after this treatment was started his symptoms completely resolved. Until now they did not return. Repeated temperature threshold testing (TTT) as well as cardiovascular autonomic function test clearly improved after one year therapy. This case reveals two important issues. First, it shows that SFN seems not an irreversible disorder, even in severe cases. Second, TNF-alpha may be a crucial cytokine in the pathogenesis of SFN in sarcoidosis and eventually also in other immune mediated inflammatory diseases.
The clinical features of inclusion body myositis (IBM) were of minor importance in the design of consensus diagnostic criteria, mainly because of controversial views on the specificity of signs and symptoms, although some authors reported "typical" signs. To re-assess the clinical spectrum of IBM, a single investigator using a standard protocol studied a cohort of 64 patients cross-sectionally. Symptom onset was before the age of 50 years in 20% of cases. Only a few patients (14 %) started with weakness other than that of quadriceps, finger flexor or pharyngeal muscles. The sequence of power loss was erratic, but onset of symptoms with quadriceps weakness predicted an earlier onset of dysphagia in older patients (> or = 56 years) compared with younger ones (< 56 years) (p = 0.02). Despite widespread weakness patients had favourable scores on three commonly used function scales and they kept their employment. Complete wheel-chair dependency was rare (3 %). A dominant characteristic was the anatomical distribution of afflicted muscles: ventral extremity muscle groups were more affected than dorsal muscle groups and girdle muscles were least affected, the latter preserving postural stability. Ankylosis, especially in extension of the fingers,was frequently present. Together with the sparing of intrinsic hand muscles it was helpful in the preservation of many skillful movements. IBM has a unique distribution of muscle weakness. Ankylotic contractures are common. We feel that their joint impact on daily functioning is characteristic for the disease.
BACKGROUND AND AIM: Recently we found that small fiber neuropathy (SFN) occurs frequently in sarcoidosis. Autonomic dysfunction may be a feature of SFN. Since cardiac autonomic dysfunction has been identified as a strong predictor of morbidity and mortality, recognition of cardiac autonomic involvement is of clinical relevance. It was hypothesised that SFN might be related to cardiac sympathetic denervation in sarcoidosis. METHODS: In the present study 45 consecutive sarcoidosis patients (13 without SFN assessed by thermal threshold testing (TTT), 32 with SFN (abnormal TTT) were enrolled. To rule out bias due to myocardial ischemia, cases with abnormal Thallium (201Tl) perfusion scintigraphy were excluded (n = 2). Cardiovascular autonomic function testing (Ewing tests) and 123I-MIBG (metaiodobenzylguanidine) scintigraphy were used to assess cardiac autonomic function. Further cardiac diagnostic work-up included ECG, Holter recording and echo Doppler cardiography. RESULTS: Mild to moderate heterogeneity of 123I-MIBG uptake regional in the myocardium was demonstrated in a substantial number of the studied sarcoidosis population, especially in those with SFN (abnormal TTT). Mean inferior-anterior ratios were 0.85+/-0.17 (SFN) and 1.0+/-0.17 (no SFN; p = 0.003), respectively. Four out of the 14 cases with abnormal MIBG scintigraphy and SFN showed an abnormal Ewing test. CONCLUSION: Cardiac sympathetic dysfunction assessed by use of 123I-MIBG myocardial scanning appeared to be heterogeneous in sarcoidosis patients and dependent on the presence or absence of SFN. MIBG scintigraphy may be of additional value in the management and follow-up of sarcoidosis patients. Future study is warranted to explore possible prognostic and therapeutic implications of these findings in sarcoidosis.
Sarcoidosis is an inflammatory multisystem disorder of unknown cause. Practically no organ is immune to sarcoidosis; most commonly, in up to 90% of patients, it affects the lungs. The nervous system is involved in 5-15% of patients. Neurosarcoidosis is a serious and commonly devastating complication of sarcoidosis. Clinical diagnosis of neurosarcoidosis depends on the finding of neurological disease in multisystem sarcoidosis. As the disease can present in many different ways without biopsy evidence, solitary nervous-system sarcoidosis is difficult to diagnose. Corticosteroids are the drug of first choice. In addition, several cytotoxic drugs, including methotrexate, have been used to treat sarcoidosis. The value of new drugs such as anti-tumour necrosis factor alpha will be assessed. In this review we describe the clinical manifestations of neurosarcoidosis, diagnostic dilemmas and considerations, and therapy.
BACKGROUND AND AIM: Although pain is prevalent in sarcoidosis, this has never been studied systematically. The aim of the present study was to evaluate the presence and impact of pain in sarcoidosis. METHODS: Members from the Dutch Sarcoidosis Society without co-morbidity (n = 821) participated in this study. The World Health Organisation Quality of Life assessment instrument (WHOQOL-100) was completed, as well as a symptom inventory questionnaire addressing the presence of various categories of pain, i.e., muscle pain, chest pain, abdominal pain, arthralgia, and/or headache. RESULTS: Pain was reported by 594 patients (72.4%). Arthralgia was experienced most frequently (53.8%), followed by muscle pain (40.2%), headache (28.0%) and chest pain (26.9%). The number of types of pain a patient was suffering from (ranging from 0-5) was related to the WHOQOL- 100 Pain and Discomfort scale (r = 0.49, p < 0.001). Patients with more types of pain had lower quality of life (QOL). In addition, the total amount of experienced pain categories was associated with the WHOQOL-100 domain Level of Independence (r = -O.43, p < 0.001), and the facet Energy and Fatigue (r = -0.38, p < 0.001). The number of types of pain was predicted by using analgesics, psychological/neurological medication, NSAIDs, being female, indicating to feel tired, more negative feelings and less energy (F(7.635) = 35.2, p < 0.001; R2 = 27.9%). CONCLUSIONS: Pain appeared to be a major problem in sarcoidosis, especially arthralgia. Although negative feelings and fatigue were related to pain, it could not fully explain pain. Future studies are needed to address mechanisms of pain, pain behaviour, and the best therapeutic approach to pain in sarcoidosis.