173 research outputs found
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
Autosomal recessive cutis laxa type I (ARCL type I) is characterized by generalized cutis laxa with pulmonary emphysema and/or vascular complications. Rarely, mutations can be identified in FBLN4 or FBLN5. Recently, LTBP4 mutations have been implicated in a similar phenotype. Studying FBLN4, FBLN5, and LTBP4 in 12 families with ARCL type I, we found bi-allelic FBLN5 mutations in two probands, whereas nine probands harbored biallelic mutations in LTBP4. FBLN5 and LTBP4 mutations cause a very similar phenotype associated with severe pulmonary emphysema, in the absence of vascular tortuosity or aneurysms. Gastrointestinal and genitourinary tract involvement seems to be more severe in patients with LTBP4 mutations. Functional studies showed that most premature termination mutations in LTBP4 result in severely reduced mRNA and protein levels. This correlated with increased transforming growth factor-beta (TGFβ) activity. However, one mutation, c.4127dupC, escaped nonsense-mediated decay. The corresponding mutant protein (p.Arg1377Alafs(*) 27) showed reduced colocalization with fibronectin, leading to an abnormal morphology of microfibrils in fibroblast cultures, while retaining normal TGFβ activity. We conclude that LTBP4 mutations cause disease through both loss of function and gain of function mechanisms
Evaluating synergy between marbofloxacin and gentamicin in Pseudomonas aeruginosa strains isolated from dogs with otitis externa
The aim of this study was to determine antimicrobial susceptibility of Pseudomonas aeruginosa strains to marbofloxacin and gentamicin, and investigate the possible synergistic, additive, indifferent or antagonistic effects between the two agents. P. aeruginosa strains can develop resistance quickly against certain antibiotics if used alone, thus the need emerges to find synergistic combinations. A total of 68 P. aeruginosa strains isolated from dogs were examined. In order to describe interactions between marbofloxacin and gentamicin the checkerboard microdilution method was utilized. The MICs (minimum inhibitory concentrations) for marbofloxacin and gentamicin were in the range 0.25–64 mg/L and 0.25–32 mg/L, respectively. The combination of marbofloxacin and gentamicin was more effective with a MIC range of 0.031–8 mg/L and a MIC90 of 1 mg/L, compared to 16 mg/L for marbofloxacin alone and 8 mg/L for gentamicin alone. The FIC (fractional inhibitory concentration) indices ranged from 0.0945 (pronounced synergy) to 1.0625 (indifference). Synergy between marbofloxacin and gentamicin was found in 33 isolates. The mean FIC index is 0.546, which represents a partial synergistic/additive effect close to the full synergy threshold. In vitro results indicate that marbofloxacin and gentamicin as partially synergistic agents may prove clinically useful in combination therapy against P. aeruginosa infections. Although marbofloxacin is not used in the human practice, the interactions between fluoroquinolones and aminoglycosides may have importance outside the veterinary field
Measurement of the Charged Multiplicities in b, c and Light Quark Events from Z0 Decays
Average charged multiplicities have been measured separately in , and
light quark () events from decays measured in the SLD experiment.
Impact parameters of charged tracks were used to select enriched samples of
and light quark events, and reconstructed charmed mesons were used to select
quark events. We measured the charged multiplicities:
,
, from
which we derived the differences between the total average charged
multiplicities of or quark events and light quark events: and . We compared
these measurements with those at lower center-of-mass energies and with
perturbative QCD predictions. These combined results are in agreement with the
QCD expectations and disfavor the hypothesis of flavor-independent
fragmentation.Comment: 19 pages LaTex, 4 EPS figures, to appear in Physics Letters
Measurement of the Mass Splittings between the States
We present new measurements of photon energies and branching fractions for
the radiative transitions: Upsilon(2S)->gamma+chi_b(J=0,1,2). The masses of the
chi_b states are determined from the measured radiative photon energies. The
ratio of mass splittings between the chi_b substates,
r==(M[J=2]-M[J=1])/(M[J=1]-M[J=0]) with M the chi_b mass, provides information
on the nature of the bbbar confining potential. We find
r(1P)=0.54+/-0.02+/-0.02. This value is in conflict with the previous world
average, but more consistent with the theoretical expectation that r(1P)<r(2P);
i.e., that this mass splittings ratio is smaller for the chi_b(1P) triplet than
for the chi_b(2P) triplet.Comment: 11 page postscript file, postscript file also available through
http://w4.lns.cornell.edu/public/CLN
Radiative Decay Modes of the Meson
Using data recorded by the CLEO-II detector at CESR we have searched for four
radiative decay modes of the meson: ,
, , and . We
obtain 90% CL upper limits on the branching ratios of these modes of , , and
respectively.Comment: 15 page postscript file, postscript file also available through
http://w4.lns.cornell.edu/public/CLN
Perfil fenotípico e susceptibilidade antimicrobiana de Streptococcus equi isolados de equinos da região Sul do Brasil
Susceptibility profile of Brazilian Rhodococcus equi isolates against azithromycin, clarithromycin and erythromycin
Type I and II endometrial cancers: have they different risk factors?
PurposeEndometrial cancers have long been divided into estrogen-dependent type I and the less common clinically aggressive estrogen-independent type II. Little is known about risk factors for type II tumors because most studies lack sufficient cases to study these much less common tumors separately. We examined whether so-called classical endometrial cancer risk factors also influence the risk of type II tumors.Patients and MethodsIndividual-level data from 10 cohort and 14 case-control studies from the Epidemiology of Endometrial Cancer Consortium were pooled. A total of 14,069 endometrial cancer cases and 35,312 controls were included. We classified endometrioid (n = 7,246), adenocarcinoma not otherwise specified (n = 4,830), and adenocarcinoma with squamous differentiation (n = 777) as type I tumors and serous (n = 508) and mixed cell (n = 346) as type II tumors.ResultsParity, oral contraceptive use, cigarette smoking, age at menarche, and diabetes were associated with type I and type II tumors to similar extents. Body mass index, however, had a greater effect on type I tumors than on type II tumors: odds ratio (OR) per 2 kg/m(2) increase was 1.20 (95% CI, 1.19 to 1.21) for type I and 1.12 (95% CI, 1.09 to 1.14) for type II tumors (P-heterogeneity < .0001). Risk factor patterns for high-grade endometrioid tumors and type II tumors were similar.ConclusionThe results of this pooled analysis suggest that the two endometrial cancer types share many common etiologic factors. The etiology of type II tumors may, therefore, not be completely estrogen independent, as previously believed. (C) 2013 by American Society of Clinical Oncolog
Social Segregation, Housing Tenure and Social Change in Dutch Cities in the Late 1980s
- …