Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy.

We report a family with a clinical diagnosis of oculopharyngeal muscular dystrophy in which muscle biopsy showed mitochondrial changes such as cytochrome-c-oxidase-negative fibers and aggregates of mitochondria containing paracrystalline inclusions. Molecular analysis demonstrated a GCG expansion in the poly(A)-binding protein 2 (PABP2) gene and failed to demonstrate multiple deletions of mtDNA. We hypothesize that mitochondrial abnormalities may be a secondary phenomenon. This observation may suggest that the PABP2 gene could interfere in the posttranscriptional regulation of genes involved in mitochondrial function.

[Polyomavirus BK nephropathy in renal transplant: 2 cases with different clinical expressions and review of the literature]. / Nefropatia da Poliomavirus BK nel trapianto renale: 2 casi con espressione clinica diversa e revisione della letteratura.

INTRODUCTION: Polyomavirus BK nephropathy is emerging as a significant cause of interstitial nephritis and allograft dysfunction (1-2). CASE REPORT: Two patients with renal transplants from cadaveric kidneys were treated with Tacrolimus plus Mycophenolate Mofetil (MMF) and Cyclosporine plus MMF, respectively. Their renal function gradually deteriorated eight to twelve months after the transplant. The renal biopsy of the first patient showed signs of significant interstitial tubulite, which necessitated the anti-rejection therapy with intravenous steroid pulses. After the pulses there was an additional dramatic increase in plasmatic creatinine, which suggested a revaluation of the kidney biopsy because of suspected Polyomavirus BK (BKV) nephropathy. In fact, after a more careful review, the suspicion of BKV infection was confirmed by the presence of intranuclear inclusions of tubular epithelium cells and marked denudation of the tubular basal membrane. The subsequent screening in both cases confirmed the presence of decoy cells in the urine, while the immunohistochemical analysis of the renal biopsy was strongly positive for the SV40 antigen. Our diagnosis was that of interstitial nephritis due to Polyomavirus BK that, in the first patient, was expressed by more aggressive clinical progress, probably due to enhanced immunosuppression from incorrect diagnosis of the interstitial rejection. The pre-transplant clinical outcome of the first patient was characterised by proteinuric nephropathy without any histological confirmation. Furthermore, we observed abundant pre-transplant residual diuresis and glucose intolerance. All these elements led us to hypothesise that native kidneys could have a fundamental role as viral reservoirs. CONCLUSION: Even though we reconfirm the decisive role of the immunosuppressive therapy and of the donor s kidney as the fundamental causes of Polyomavirus reactivation, we believe that it cannot be the result of a possible active role by the native kidney. In fact, as already noted, the SV40 genome is important in the pathogenesis of focal gomerulosclerosis. Furthermore, reports of polyoma nephropathy in not-yet-transplanted patients could accredit the role of the native kidneys as important viral reservoirs capable of inducing nephropathy in renal transplant patients.

Extracorporeal shock wave therapy for chronic calcific tendinitis of the shoulder: single blind study.

OBJECTIVE: To evaluate the clinical and radiological response of chronic calcific tendinitis of the shoulder to extracorporeal shock wave therapy (ESWT) in a single blind study. METHODS: 70 patients showing chronic, symptomatic, calcifying tendinitis of the shoulder were examined. A single blind randomised study was performed with 35 patients undergoing a regular treatment (group 1) and 35 a simulated one (group 2). Pain and functional assessment was carried out according to Constant and Murley. Variations in the dimension of the calcification were evaluated by anteroposterior x ray films. RESULTS: A significant decrease of pain and a significant increase in shoulder function was seen in group 1. Examination by x ray showed partial resorption of the calcium deposits in 40% of cases and complete resorption in 31% of cases in group 1. In the control group no significant decrease of pain and no significant increase in shoulder function was seen. No modifications were observed by x ray examination. CONCLUSION: Because of its good tolerance, safety, and clinical radiological response, ESWT can be considered as an alternative treatment for chronic calcific tendinitis of the shoulder.

Efficacy of extracorporeal shock wave treatment in calcaneal enthesophytosis.

OBJECTIVE: To evaluate the efficacy of extracorporeal shock wave treatment (ESWT) in calcaneal enthesophytosis. METHODS: 60 patients (43 women, 17 men) were examined who had talalgia associated with heel spur. A single blind randomised study was performed in which 30 patients underwent a regular treatment (group 1) and 30 a simulated one (shocks of 0 mJ/mm(2) energy were applied) (group 2). Variations in symptoms were evaluated by visual analogue scale (VAS). Variations in the dimension of enthesophytosis were evaluated by x ray examination. Variations in the grade of enthesitis were evaluated by sonography. RESULTS: A significant decrease of VAS was seen in group 1. Examination by x ray showed morphological modifications (reduction of the larger diameter >1 mm) of the enthesophytosis in nine (30%) patients. Sonography did not show significant changes in the grade of enthesitis just after the end of the treatment, but a significant reduction was seen after one month. In the control group no significant decrease of VAS was seen. No modification was observed by x ray examination or sonography. CONCLUSION: ESWT is safe and improves the symptoms of most patients with a painful heel, it can also structurally modify enthesophytosis, and reduce inflammatory oedema.

Diff Quik staining method for detection and identification of monosodium urate and calcium pyrophosphate crystals in synovial fluids.

OBJECTIVE: To evaluate whether the Diff Quik (DQ) staining method might prove useful in identifying monosodium urate (MSU) and calcium pyrophosphate dihydrate (CPPD) crystals on permanent mounted stained slides. METHODS: 27 synovial fluid (SF) samples obtained from the knees of 21 patients with acute CPPD disease and 6 with acute gout were studied. Wet analysis for crystal detection and identification was performed within one hour of joint aspiration. In addition, 16 inflammatory synovial effusions obtained from patients with knee arthritis induced by non-crystalline inflammatory diseases were studied. For each SF, a DQ stained slide was analysed by two of the authors trained in SF analysis. The observers were blinded to the type of crystals present in the SF. Each slide was analysed by compensated polarised as well as transmitted light microscopy. An SF was considered positive if intracellular and/or extracellular crystals were clearly identified. In addition, the observer was asked to identify the type of the crystals using compensated polarised light microscopy. Sensitivity, specificity, accuracy, positive predictive value (PPV), and negative predictive value (NPV) of the DQ staining method were determined. RESULTS: 51 true positive and 28 true negative cases were correctly classified (39 CPPD samples, 12 MSU samples, 28 samples of crystal unrelated arthropathies). Overall, four false positive and three false negative cases were reported. In all the false positive cases, extracellular CPPD crystals were erroneously identified, whereas CPPD crystals present in the SF were not identified in the three false negative cases. All MSU specimens were correctly diagnosed. The overall specificity, sensitivity, and accuracy using DQ stained slides for crystal confirmation were respectively 87.5%, 94.4%, and 91.9%. The PPV was 92.7% and the NPV 90.3%. In particular, the specificity, sensitivity, and accuracy for CPPD detection were 90.9%, 92.9%, and 91.9%, with a PPV of 90.7 and an NPV of 93.0%. All the MSU specimens were correctly identified, providing 100% sensitivity, specificity, accuracy, PPV, and NPV. CONCLUSIONS: Stained preparations of SF, including DQ stained smears, could provide a useful tool for delayed SF analysis suitable for quality controls, including cytological examination and crystals detection and identification.

[Diff-Quik(R) staining method for detection and identification of monosodium urate and calcium pyrophosphate crystals in synovial fluids] / La colorazione con Diff-Quik(R) per l'identificazione di cristalli di urato monosodico e pirofosfato di calcio diidrato nel liquido sinoviale.

The aim of this study was to evaluate whether DQ could prove useful to identify monosodium urate (MSU) and calcium pyrophosphate dehydrate (CPPD) crystals on permanent mounted stained slides. To this end, we studied 27 synovial fluid (SF) samples obtained from the knees of patients with the pseudogout (n=21) and acute gouty arthritis (n=6). Wet analysis for crystal detection and identification was performed within one hour of joint aspiration. In addition, we studied 16 inflammatory synovial effusions obtained from patients with knee arthritis not induced by crystals. For each SF, DQ stained slides were analyzed by 2 experienced doctors in SF analysis. The observers were blinded to the type of crystal present in the SF. Each slide was analyzed by compensated polarized and transmitted light microscopy. SF was considered positive if intracellular and/or extracellular crystals were clearly identified. In addition, the observers were asked to identify the type of the crystals using compensated polarized light microscopy. Sensitivity, specificity, accuracy, positive predictive value (PPV), and negative predictive value (NPV) of the DQ staining method were determined. 51 true positive and 28 true negative specimens were correctly classified (39 CPPD samples, 12 MSU samples, and 28 samples of crystals-unrelated arthropathies). All MSU specimens were correctly diagnosed.

Image analysis quantification of substance P immunoreactivity in the trapezius muscle of patients with fibromyalgia and myofascial pain syndrome.

OBJECTIVE: Substance P (SP), a neurotransmitter stored within the afferent nociceptive fibers, is likely to be involved in the pathogenesis of musculoskeletal pain. We investigated SP immunoreactive (SP-ir) nerve fibers in the upper trapezius of patients with fibromyalgia (FM) and myofascial pain syndrome (MPS) by immunochemistry. METHODS: Trapezius muscle obtained from tender points of 9 women with primary FM, from trigger points of 9 women with regional myofascial pain, and from 9 control women were immunostained with anti-SP sera. Quantitative evaluation was performed by computerized image analysis. RESULTS: No significant differences in the number of SP-ir areas were detected between groups (one way ANOVA: p = 0.2); in contrast, mean optical density (OD) of SP-ir showed a significant difference comparing the groups (one way ANOVA: p < 0.0001). Mean OD of the immunostaining for SP was statistically greater in trapezius muscle of patients with MPS (0.594 +/- 0.096) compared to specimens from patients with FM (0.436 +/- 0.140) (p < 0.05) and controls (0.314 +/- 0.105) (p < 0.05); mean OD of immunostaining for SP was greater in FM specimens than in controls (p < 0.05). CONCLUSION: Our results point to a peripheral hyperactivity of the peptidergic nervous system in FM as well as in MPS. These findings support the notion of pathogenetic involvement of the afferent nervous system in the development and perception of myofascial pain.

Nerve conduction velocity study of the upper limb in Raynaud's phenomenon.

A prospective study of upper limb nerve conduction velocity was performed in 39 subjects (9 males, 30 females, mean age 46.8 years) with idiopathic Raynaud's phenomenon (RP) and 18 patients (3 males, 15 females, mean age 49.9 years) with RP secondary to systemic sclerosis (SS). Five subjects with idiopathic RP (13%) showed slowing of sensory conduction velocity (SCV) of the distal median nerve, associated with delayed distal motor latency (DML) of the same nerve in three patients, without clinical signs or symptoms of carpal tunnel syndrome (CTS). Three patients with secondary RP (17%) had reduction of SCV of the distal median nerve, associated with increased DML of the same nerve in one and with clinically silent slowing of SCV of the ulnar nerve in two (11%). Mean distal SCVs of the median nerve were significantly lower and mean DMLs were significantly higher in both groups with respect to a control group. Mean distal conduction of the ulnar nerve was significantly slower only in the group with secondary RP. No slowing was observed in the proximal part of any nerve. It seems likely that patients with idiopathic RP have slowing of conduction in the distal part of the median nerve, along the carpal tunnel. Since slowing does not occur in all parts of the nerves of the hand, it cannot be related to acral vasomotor disturbances, but to local or systemic factors. In contrast, patients with secondary RP had slowing of median and ulnar nerve conduction velocity, presumably related to subclinical distal peripheral neuropathy. A nerve conduction study of the hand could be useful in cases of suspected secondary origin of RP. In idiopathic RP, slowing of conduction may only affect the median nerve, whereas in secondary RP it may affect other nerves of the hand.