Search PubMed⌕ Search

Biomedical subjects

M Ries

Publications and source records attributed to M Ries.

At least 19 recordsLinked to original sources
PubMed2006

Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease.

Fabry disease results in a global vasculopathy leading to early-onset stroke and renal and cardiac failure. We found that random myeloperoxidase in serum and plasma was significantly elevated in 73 consecutive male patients with Fabry disease. Random serum myeloperoxidase level in men predicted the risk of a Fabry vasculopathy-related event in subsequent years. Long-term enzyme replacement therapy did not reduce myeloperoxidase level or eliminate the risk of vasculopathic events.

Adolescent↗
PubMed2006

Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease.

Fabry disease, OMIM 301500, is a progressive multisystem storage disorder due to the deficiency of alpha-galactosidase A (GALA). Neurological and vascular manifestations of this disorder with regard to hearing loss have not been analysed quantitatively in large cohorts. We conducted a retrospective cross sectional analysis of hearing loss in 109 male and female patients with Fabry disease who were referred to and seen at the Clinical Center of the National Institutes of Health, Bethesda, MD, USA on natural history and enzyme replacement study protocols. There were 85 males aged 6-58 years (mean 31 years, SD 13) and 24 females aged 22-72 years (mean 42 years, SD 12). All patients underwent a comprehensive audiological evaluation. In addition, cerebral white matter lesions, peripheral neuropathy, and kidney function were quantitatively assessed. HL(95), defined as a hearing threshold above the 95th percentile for age and gender matched normal controls, was present in 56% [95% CI (42.2-67.2)] of the males. Prevalence of HL(95) was lower in the group of patients with residual GALA enzyme activity compared with those without detectable activity (33% versus 63%) HL(95) was present in the low-, mid- and high-frequency ranges for all ages. Male patients with HL(95) had a higher microvascular cerebral white matter lesion load [1.4, interquartile range (IQR) 0-30.1 +/- versus 0, IQR 0-0], more pronounced cold perception deficit [19.4 +/- 5.5 versus 13.5 +/- 5.5 of just noticeable difference (JND) units] and lower kidney function [creatinine: 1.6 +/- 1.2 versus 0.77 +/- 0.2 mg/dl; blood urea nitrogen (BUN): 20.1 +/- 14.1 versus 10.3 +/- 3.28 mg/dl] than those without HL(95) (P < 0.001). Of the females, 38% had HL(95). There was no significant association with cold perception deficit, creatinine or BUN in the females. Word recognition and acoustic reflexes analyses suggested a predominant cochlear involvement. We conclude that hearing loss involving all frequency regions significantly contributes to morbidity in patients with Fabry disease. Our quantitative analysis suggests a correlation of neuropathic and vascular damage with hearing loss in the males. Residual GALA activity appears to have a protective effect against hearing loss.

Adolescent↗
PubMed2005

Fourier Transform Infrared Imaging of focal lesions in human osteoarthritic cartilage.

Fourier Transform Infrared Imaging (FTIRI) is a new method for quantitatively assessing the spatial-chemical composition of complex materials. This technique has been applied to examine the feasibility of measuring changes in the composition and distribution of collagen and proteoglycan macromolecules in human osteoarthritic cartilage. Human cartilage was acquired post-operatively from total joint replacement patients. Samples were taken at the site of a focal lesion, adjacent to the lesion, and from relatively healthy cartilage away from the lesion. Sections were prepared for FTIRI and histochemical grading. FTIRI spectral images were acquired for the superficial, intermediate, and deep layers for each sample. Euclidean distance mapping and quantitative partial least squares analysis (PLS) were performed using reference spectra for type-II collagen and chondroitin 6-sulphate (CS6). FTIRI results were correlated to the histology-based Mankin scoring system. PLS analysis found relatively low relative concentrations of collagen (38 +/- 10%) and proteoglycan (22 +/- 9%) in osteoarthritic cartilage. Focal lesions were generally found to contain less CS6 compared to cartilage tissue adjacent to the lesion. Loss of proteoglycan content was well correlated to histological Mankin scores (r=0.69, p<0.0008). The evaluation of biological tissues with FTIRI can provide unique quantitative information on how disease can affect biochemical distribution and composition. This study has demonstrated that FTIRI is useful in quantitatively assessing pathology-related changes in the composition and distribution of primary macromolecular components of human osteoarthritic cartilage.

Cartilage, Articular↗
PubMed2004

Magnetic resonance evaluation of the interrelationship between articular cartilage and trabecular bone of the osteoarthritic knee.

OBJECTIVE: To use high-resolution magnetic resonance imaging (MRI) to determine the relationship between articular cartilage degeneration and trabecular bone changes of the femur, condyles and tibia in human knees with osteoarthritis (OA). METHODS: Subjects were divided into three groups: without OA (OA0), mild OA (OA1) and severe OA (OA2). Sagittal images of the knee (0.234 x 0.234mm2, 2-mm slice thickness) were obtained at 1.5T and used for calculating the volume and thickness of the femoral and tibial cartilage. Axial images (0.195 x 0.195mm2, 1-mm slice thickness) were used for calculating the trabecular bone structure parameters: apparent bone volume fraction, trabecular number, trabecular separation and trabecular thickness. RESULTS: Cartilage volume and thickness were less in patients with OA compared to normal controls (P<0.1). Articular cartilage thinning is associated with bone structure loss in the opposite femoral condyle (P<0.05). In varus OA, there were extensive correlations between medial tibia and medial femoral cartilage degeneration, and loss of bone structure in the lateral tibia and lateral condyle. Additional correlations existed between the compartmental differences (lateral minus medial) of cartilage thickness and bone structure. CONCLUSION: Degradation of articular cartilage within a compartment correlates with a loss of bone structure in the opposite compartment. The correlation between the (L-M) differences corroborates this relationship. Malalignment of the knee due to cartilage degeneration is associated with bone formation in the diseased condyle and bone resorption in the opposite compartment.

Age Factors↗
PubMed2004

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey.

BACKGROUND: Fabry disease is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. Progressive accumulation of the substrate globotriaosylceramide in cells throughout the body leads to major organ failure and premature death. In response to the recent introduction of enzyme replacement therapy, the Fabry Outcome Survey (FOS) was established to pool data from European clinics on the natural history of this little-known disease and to monitor the long-term efficacy and safety of treatment. This paper presents the first analysis of the FOS database and provides essential baseline data against which the effects of enzyme replacement can be measured. DESIGN: Baseline data from a cohort of 366 patients from 11 European countries were analysed in terms of demography and clinical manifestations of Fabry disease. RESULTS: Misdiagnosis of Fabry disease is common, and the mean delay from onset of symptoms to correct diagnosis was 13.7 and 16.3 years in males and females, respectively. Although previously thought to have serious manifestations only in hemizygous men, the FOS database has confirmed that females heterozygous for Fabry disease are similarly affected. Furthermore, signs and symptoms of Fabry disease may be present from early childhood. CONCLUSIONS: With the advent of enzyme replacement therapy, it is important that general practitioners and physicians in a range of specialties recognize the signs and symptoms of Fabry disease so that effective treatment can be given. Baseline data from FOS demonstrate that enzyme replacement therapy should not be restricted to hemizygous men, but should be considered for both heterozygous females and children.

Age Factors↗
PubMed2004

The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy.

Anderson-Fabry disease (AFD) is an X-linked disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. The availability of enzyme replacement therapy (ERT) for this debilitating condition has led to the need for a convenient and sensitive instrument to monitor clinical effects in an individual patient. This study aimed to develop a scoring system--the Mainz Severity Score Index (MSSI)--to measure the severity of AFD and to monitor the clinical course of the disease in response to ERT. Thirty-nine patients (24 males and 15 females) with AFD were assessed using the MSSI immediately before and 1 year after commencing agalsidase alfa ERT. Control data were obtained from 23 patients in whom AFD was excluded. The MSSI of patients with AFD was significantly higher than that of patients with other severe debilitating diseases. The MSSI indicated that, although more men than women had symptoms classified as severe, overall, the median total severity scores were not significantly different between male and female patients. One year of ERT with agalsidase alfa led, in all patients, to a significant (p < 0.001) reduction in MSSI score (by a median of nine points). This study has shown that the MSSI score may be a useful, specific measure for objectively assessing the severity of AFD and for monitoring ERT-related treatment effects.

Adolescent↗
PubMed2003

Intestinal perforations in a premature infant caused by Bacillus cereus.

Although Bacillus cereus is a ubiquitous bacterium, the incidence of neonatal infections is very low with only a few cases of B. cereus infections in neonates reported in the literature. We report the case of a premature infant with multiple intestinal perforations and an abdominal B. cereus infection. The initial course was characterized by severe cardiovascular shock, anemia, thrombocytopenia and disseminated intravascular coagulation, leading to periventricular leukomalacia, alopecia capitis and toxic epidermal necrolysis. The possible role of B. cereus-associated enterotoxins for the clinical manifestations are discussed. Our case confirms previous reports of severe clinical symptoms in B. cereus infection in premature neonates. We speculate that the systemic complications of B. cereus infection are at least partly related to the effect of B. cereus-associated enterotoxins.

Abnormalities, Multiple↗
PubMed2003

Use of gabapentin to reduce chronic neuropathic pain in Fabry disease.

The effect of the anticonvulsant gabapentin on neuropathic pain was studied in six male patients with Fabry disease, aged 15-45 years. After 4 weeks of treatment, pain, as measured using the Brief Pain Inventory, was decreased compared with baseline. Treatment was generally well tolerated. This study indicates that gabapentin should be considered as a treatment option for the neuropathic pain of Fabry disease.

Acetates↗
PubMed2003

A micro-computed tomography study of the trabecular bone structure in the femoral head.

The goal of this study was to characterize the trabecular microarchitecture of the femoral head using micro-computed tomography (ICT). Femoral head specimens were obtained from subjects following total hip replacement. Cylindrical cores from the specimens were scanned to obtain 3-D images with an isotropic resolution of 26 Im. Bone structural parameters were evaluated on a per millimeter basis: relative bone volume (BV/TV), trabecular number (Tb.N), thickness (Tb.Th) and separation (Tb.Sp), structure model index (SMI), and connectivity (Conn.D). The ICT data show that the first two millimeters, starting at the joint surface, are characterized by more plate-like trabeculae, and are significantly denser than the underlying trabecular bone. Regional differences in the trabecular architecture reveal that the superior pole has significantly higher BV/TV, Tb.N and Tb.Th values, with lower Tb.Sp compared to the inferior and side poles. Because subchondral bone is essential in the load attenuation of joints, the difference in bone structure between the subchondral and trabecular bone might arise from the different functions each have within joint-forming bones. The denser trabecular structure of the superior pole as compared to the inferior pole can be interpreted as a functional adaptation to higher loading in this area.

Journal Article↗
PubMed2002

Percutaneous endovascular catheter aspiration thrombectomy of severe superior vena cava syndrome.

We report a combined percutaneous endovascular approach, including thrombus aspiration and catheter directed local thrombolysis, followed by systemic thrombolytic therapy to treat severe superior vena cava syndrome in a 2 and 1/2 week old infant. This procedure was performed on the fifth postoperative day after major surgery. No treatment complications were observed. The only predisposing condition for thrombosis was a central venous line. No other acquired or genetic risk factors for thrombosis could be found.

Anticoagulants↗
PubMed2001

Differences between neonates and adults in tissue-type-plasminogen activator (t-PA)-catalyzed plasminogen activation with various effectors and in carbohydrate sequences of fibrinogen chains.

Our study investigates the effect of fetal and adult soluble fibrin (SF), fetal and adult fibrinogen Aalpha- and gamma-chains, as well as adult CNBr-fibrinogen fragments on tissue-type plasminogen activator (t-PA)-catalyzed plasminogen activation of both fetal and adult Glu-plasminogen types 1 and 2. In addition, we determined carbohydrate sequences of fetal and adult Bbeta- and gamma-chains by mass spectrometric analysis. In the absence of an effector, no substantial differences in the rate of plasmin formation could be seen between the fetal and adult plasminogen types. In the presence of an effector, both fetal Glu-plasminogen types revealed lower values for k(cat app) than the respective adult types. No differences could be seen in the values for K(m app). The resulting differences in catalytic efficiencies between the fetal and adult plasminogen types were much less than previously reported. No differences could be seen between fetal and adult effectors in stimulating t-PA-catalyzed plasminogen activation. Detailed analyses of the activation kinetics revealed a longer initial phase of slow plasmin formation of both fetal Glu-plasminogen types compared to their respective adult types, indicating a slower plasmin-induced modification of CNBr-fibrinogen fragments or SF by fetal plasmin. Mass spectrometric analysis of the N-glycans present on adult and fetal Bbeta- and gamma-fibrinogen chains showed the presence of a major monosialylated biantennary structure with lesser amounts of the disialylated form. In contrast to previous data, we conclude that catalytic efficiency of t-PA-catalyzed plasminogen activation in neonates is only slightly lower than in adults.

Adult↗
PubMed2001

Comparison of three joint simulator wear debris isolation techniques: acid digestion, base digestion, and enzyme cleavage.

Quantification of ultrahigh molecular weight polyethylene (UHMWPE) wear debris remains a challenging task in orthopedic device analysis. Currently, the weight loss method is the only accepted practice for quantifying the amount of wear generated from a PE component. This technique utilizes loaded soak controls and weight differences to account for polymeric material lost through wear mechanisms. This method enables the determination of the amount of wear in the orthopedic device, but it provides no information about debris particulate size distribution. In order to shed light on wear mechanisms, information about the wear debris and its size distribution is necessary. To date, particulate isolation has been performed using the base digestion technique. The method uses a strong base, ultracentrifugation, and filtration to digest serum constituents and to isolate PE debris from sera. It should be noted that particulate isolation methods provide valuable information about particulate size distribution and may elucidate the mechanisms of wear associated with polymeric orthopedic implants; however, these techniques do not yet provide a direct measure of the amount of wear. The aim of this study is to present alternative approaches to wear particle isolation for analysis of polymer wear in total joint replacements without recourse to ultracentrifugation. Three polymer wear debris isolation techniques (the base method, an acid treatment, and an enzymatic digestion technique) are compared for effectiveness in simulator studies. A requirement of each technique is that the wear particulate must be completely devoid of serum proteins in order to effectively image and count these particles. In all methods the isolation is performed through filtration and chemical treatment. Subsequently, the isolated polymer particles are imaged using scanning electron microscopy and quantified with digital image analysis. The results from this study clearly show that isolation can be performed without the use of ultracentrifugation and that these methods provide a viable option for wear debris analysis.

Biocompatible Materials↗
PubMed2001

Diffusion tensor MRI of the human kidney.

This study characterizes the diffusion anisotropy of the human kidney using a diffusion-weighted, single-shot echo planar imaging (EPI) sequence in order to access the full apparent diffusion tensor (ADT) within one breathhold. The fractional anisotropy (FA) of the cortex and the medulla were found to be 0.22 +/- 0.12 and 0.39 +/- 0.11, respectively (N = 10), which emphasizes the need for rotationally invariant diffusion measurements for clinical applications. Additional limitations for clinical diffusion imaging on the kidney are the strong susceptibility variations within the abdomen that restrict the use of imaging techniques employing long echo trains, and the severe motion sensitivity that limits the available imaging time to one breath-hold. To overcome these problems an isotropic, diffusion-weighted, segmented EPI protocol that facilitates the acquisition of high-resolution diffusion-weighted images within a single breath-hold was implemented. Using this method, the apparent diffusion coefficient (ADC) of the cortex and medulla were found to be 2.89 +/- 0.28. 10(-9) m2/s and 2.18 +/- 0.36. 10(-9) m2/s (N = 10).

Anisotropy↗
PubMed2001

Virtual reality computer animation of the effect of component position and design on stability after total hip arthroplasty.

Virtual reality technology was utilized to assess the effect of component orientation and component design on the range of motion prior to impingement following total hip arthroplasty. Components were digitized, oriented in the pelvis, and computer animations were performed to assess the likelihood of dislocation with different combinations of component orientation.

Arthroplasty, Replacement, Hip↗