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41.
Julian Stürznickel Tim Rolvien Alena Delsmann Sebastian Butscheidt Florian Barvencik Stefan Mundlos Thorsten Schinke Uwe Kornak Michael Amling Ralf Oheim 《Journal of bone and mineral research》2021,36(2):271-282
Reduced bone mineral density (BMD; ie, Z-score ≤−2.0) occurring at a young age (ie, premenopausal women and men <50 years) in the absence of secondary osteoporosis is considered early-onset osteoporosis (EOOP). Mutations affecting the WNT signaling pathway are of special interest because of their key role in bone mass regulation. Here, we analyzed the effects of relevant LRP5 and LRP6 variants on the clinical phenotype, bone turnover, BMD, and bone microarchitecture. After exclusion of secondary osteoporosis, EOOP patients (n = 372) were genotyped by gene panel sequencing, and segregation analysis of variants in LRP5/LRP6 was performed. The clinical assessment included the evaluation of bone turnover parameters, BMD by dual-energy X-ray absorptiometry, and microarchitecture via high-resolution peripheral quantitative computed tomography (HR-pQCT). In 50 individuals (31 EOOP index patients, 19 family members), relevant variants affecting LRP5 or LRP6 were detected (42 LRP5 and 8 LRP6 variants), including 10 novel variants. Seventeen variants were classified as disease causing, 14 were variants of unknown significance, and 19 were BMD-associated single-nucleotide polymorphisms (SNPs). One patient harbored compound heterozygous LRP5 mutations causing osteoporosis-pseudoglioma syndrome. Fractures were reported in 37 of 50 individuals, consisting of vertebral (18 of 50) and peripheral (29 of 50) fractures. Low bone formation was revealed in all individuals. A Z-score ≤−2.0 was detected in 31 of 50 individuals, and values at the spine were significantly lower than those at the hip (−2.1 ± 1.3 versus −1.6 ± 0.8; p = .003). HR-pQCT analysis (n = 34) showed impaired microarchitecture in trabecular and cortical compartments. Significant differences regarding the clinical phenotype were detectable between index patients and family members but not between different variant classes. Relevant variants in LRP5 and LRP6 contribute to EOOP in a substantial number of individuals, leading to a high number of fractures, low bone formation, reduced Z-scores, and impaired microarchitecture. This detailed skeletal characterization improves the interpretation of known and novel LRP5 and LRP6 variants. © 2020 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR). 相似文献
42.
Leppelmann Konstantin S. Levesque Vincent M. Bunck Alexander C. Cahalane Alexis M. Lanuti Michael Silverman Stuart G. Shyn Paul B. Fintelmann Florian J. 《Annals of surgical oncology》2021,28(11):5829-5839
Annals of Surgical Oncology - The aim of this study was to report outcomes following percutaneous microwave and cryoablation of lung metastases from adenoid cystic carcinoma (ACC) of the head and... 相似文献
43.
44.
Zafer Tandogdu Justin Collins Greg Shaw Jennifer Rohn Bela Koves Ashwin Sachdeva Ahmed Ghazi Alexander Haese Alex Mottrie Anup Kumar Ananthakrishnan Sivaraman Ashutosh Tewari Benjamin Challacombe Bernardo Rocco Camilo Giedelman Christian Wagner Craig G. Rogers Declan G. Murphy Dmitry Pushkar Gabriel Ogaya-Pinies James Porter Kulthe Ramesh Seetharam Markus Graefen Marcelo A. Orvieto Marcio Covas Moschovas Oscar Schatloff Peter Wiklund Rafael Coelho Rair Valero Theo M. de Reijke Thomas Ahlering Travis Rogers Henk G. van der Poel Vipul Patel Walter Artibani Florian Wagenlehner Kris Maes Koon H. Rha Senthil Nathan Truls Erik Bjerklund Johansen Peter Hawkey John Kelly 《BJU international》2021,127(6):729-741
45.
46.
Detection of Mycoplasma pneumoniae in serum specimens from patients with mycoplasma pneumonia by PCR 总被引:3,自引:0,他引:3
Daxboeck F Khanakah G Bauer C Stadler M Hofmann H Stanek G 《International journal of medical microbiology : IJMM》2005,295(4):279-285
There are few data on detection of Mycoplasma pneumoniae from blood, serum or plasma, and systematic studies on this diagnostic approach in community-acquired pneumonia (CAP) are scarce. Compared to testing respiratory specimens, this approach has the advantages that it is less dependent on proper specimen collection, serum is easily stored and handled, and the pathogen is detected in a primary sterile site, where colonization can be ruled out. In this study, acute-phase serum specimens from 29 patients of Vienna University Hospital (treated between 11/1994 and 6/2004; female: 14, male: 15; median age: 31 years, range: 15-66 years) with CAP and serologically verified M. pneumoniae infection, who had not received anti-mycoplasma therapy prior to serum collection, were tested for M. pneumoniae by conventional PCR and real-time PCR. Conventional PCR yielded negative results for all specimens, but real-time PCR detected M. pneumoniae in 15/29 patient sera (52%). These findings indicate that M. pneumoniae is present in the bloodstream of a substantial proportion of patients with mycoplasma pneumonia. Despite the possible adherence of M. pneumoniae to human erythrocytes, the pathogen can be detected from serum, if a method with enhanced sensitivity is applied. However, the negative predictive value of PCR from serum with regard to etiological diagnosis is low. With regard to the potential clinical benefit of blood-based PCR diagnosis of mycoplasma pneumonia the diagnostic accuracy of this approach using either serum or whole-blood specimens should be addressed by large-scale studies. 相似文献
47.
Florian Guthmann Bernd Mayer Doris Koesling Walter R. Kukovetz Eycke Böhme 《Naunyn-Schmiedeberg's archives of pharmacology》1992,346(5):537-541
Summary Soluble guanylyl cyclase partially purified from bovine and human platelets was characterized with antibodies raised against synthetic peptides corresponding to different sequences of the 1- and 1-subunits of the bovine lung enzyme. On immunoblots, the platelet guanylyl cyclase was recognized by the four antisera used, with the exception of an antiserum against the C-terminus of the 1-subunit which did not react with the human platelet but with the bovine platelet 1-subunit. Furthermore the human platelet 1-subunit exhibited a slightly lower molecular mass than the bovine protein. The C-terminal antibodies precipitated native platelet and lung guanylyl cyclase activity. In contrast an antibody against a peptide out of the putative catalytic domain, which is highly conserved between all guanylyl cyclases sequenced so far, did not precipitate native guanylyl cyclase, although it recognized both subunits on immunoblots, suggesting that the respective amino acid sequence is located in an inner site of the protein.Abbreviations GCpep2
YGPEVWEDIKKEA (one letter code)
- GCpep3
SRKNTGTEETEQDEN
- GCpep5
VYKVETVGDKYMTVSGLP
- GCpep8
KKDVEEANANFLGKASGID
- TBS-T
Tris-buffered saline, containing 0.0501o Tween 20
Correspondence to E. Böhme at the above address 相似文献
48.
Eduardo Bruera J Lynn Palmer Snezana Bosnjak Maria Antonieta Rico Jairo Moyano Catherine Sweeney Florian Strasser Jie Willey Mariela Bertolino Clarissa Mathias Odette Spruyt Michael J Fisch 《Journal of clinical oncology》2004,22(1):185-192
PURPOSE: To compare the effectiveness and side effects of methadone and morphine as first-line treatment with opioids for cancer pain. PATIENTS AND METHODS: Patients in international palliative care clinics with pain requiring initiation of strong opioids were randomly assigned to receive methadone (7.5 mg orally every 12 hours and 5 mg every 4 hours as needed) or morphine (15 mg sustained release every 12 hours and 5 mg every 4 hours as needed). The study duration was 4 weeks. RESULTS: A total of 103 patients were randomly assigned to treatment (49 in the methadone group and 54 in the morphine group). The groups had similar baseline scores for pain, sedation, nausea, confusion, and constipation. Patients receiving methadone had more opioid-related drop-outs (11 of 49; 22%) than those receiving morphine (three of 54; 6%; P =.019). The opioid escalation index at days 14 and 28 was similar between the two groups. More than three fourths of patients in each group reported a 20% or more reduction in pain intensity by day 8. The proportion of patients with a 20% or more improvement in pain at 4 weeks in the methadone group was 0.49 (95% CI, 0.34 to 0.64) and was similar in the morphine group (0.56; 95% CI, 0.41 to 0.70). The rates of patient-reported global benefit were nearly identical to the pain response rates and did not differ between the treatment groups. CONCLUSION: Methadone did not produce superior analgesic efficiency or overall tolerability at 4 weeks compared with morphine as a first-line strong opioid for the treatment of cancer pain. 相似文献
49.
Urinary pharmacokinetics of betalains following consumption of red beet juice in healthy humans. 总被引:1,自引:0,他引:1
Thomas Frank Florian Conrad Stintzing Reinhold Carle Irmgard Bitsch Daniela Quaas Gabriele Strass Roland Bitsch Michael Netzel 《Pharmacological research》2005,52(4):290-297
The aim of the present pilot study was to characterise the renal elimination of betalains after consumption of red beet juice (RBJ). Six healthy, non-smoking female volunteers were given a single oral dose of either 500 mL of a commercial RBJ containing 362.7 mg of betalains and 500 mL of tap water, respectively, in a sequential manner. Urine was collected in intervals up to 24 h post-dose. Renal excretion of betalains was determined spectrophotometrically and quantified as betanin-equivalents. In addition, the identity of individual compounds was confirmed by HPLC coupled with diode-array detection and positive ion electrospray mass spectrometry, respectively. The amount (mean+/-S.D.) of intact betalains (betanin and isobetanin) recovered in urine was 1001+/-273 microg corresponding to 0.28+/-0.08% of the administered dose. Maximum excretion rates were observed after a median tmax,R of 3.0 h (range 2.5-8.0 h) amounting to 91.7+/-30.1 microg/h. The terminal elimination rate constant (lambdaz) and the corresponding half-life were 0.097+/-0.021 h(-1) and 7.43+/-1.47 h, respectively. Using the lambdaz estimates obtained the expected total betalain amount excreted in urine was 1228+/-291 microg. Based on the results obtained it is assumed that either the bioavailability of the betalains is low or that renal clearance is a minor route of systemic elimination for these compounds. The urinary excretion rates of unmetabolised betalains were fast and appeared to be monoexponential suggesting a one-compartment model. In order to get a more complete picture of the pharmacokinetics and health-promoting properties of red beet betalains, quantitative data on betalain bioavailability should include measurements of unchanged compounds and their corresponding metabolites in plasma, urine and bile. 相似文献
50.
Jan M Schwenkenbecher Chris Fr?hlich Florian Gehre Lionel F Schnur Gabriele Sch?nian 《Infection, genetics and evolution》2004,4(2):99-105
Sixteen polymorphic microsatellite markers were developed for phylogenetic analysis of Leishmania tropica. The phylogenetic tests done demonstrated that they do provide a powerful tool for epidemiological studies. They were also tested for their ability to differentiate strains of other species of Leishmania, confirming that microsatellite markers developed for one leishmanial species cannot generally be used for other leishmanial species. In addition to length variation, a high degree of allelic heterozygosity was seen among the strains investigated, suggestive of sexual recombination within the species L. tropica. 相似文献