A body of evidence establishes that the occurrence of kidney stone disease has increased in some communities of industrialized countries. Information on recent temporal trends in the United States is ...lacking and population-based data on epidemiologic patterns are limited. Study objective was to determine whether kidney stone disease prevalence increased in the United States over a 20-year period and the influence of region, race/ethnicity, and gender on stone disease risk.
We measured the prevalence of kidney stone disease history from the United States National Health and Nutrition Examination Survey (II and III), population-based, cross-sectional studies, involving 15,364 adult United States residents in 1976 to 1980 and 16,115 adult United States residents in 1988 to 1994.
Disease prevalence among 20- to 74-year-old United States residents was greater in 1988 to 1994 than in 1976 to 1980 (5.2% vs. 3.8%, P < 0.05), greater in males than females, and increased with age in each time period. Among 1988 to 1994 adults, non-Hispanic African Americans had reduced risk of disease compared to non-Hispanic Caucasians (1.7% vs. 5.9%, P < 0.05), and Mexican Americans (1.7% vs. 2.6%, P < 0.05). Also, age-adjusted prevalence was highest in the South (6.6%) and lowest in the West (3.3%). Findings were consistent across gender and multivariate adjusted odds ratios for stone disease history, including all demographic variables, as well as diuretic use, tea or coffee consumption, and dietary intake of calcium, protein, and fat did not materially change the results.
Prevalence of kidney stone disease history in the United States population increased between 1980 and 1994. A history of stone disease was strongly associated with race/ethnicity and region of residence.
We report the first case of a human neuromuscular transmission dysfunction due to mutations in the gene encoding the muscle-specific receptor tyrosine kinase (MuSK). Gene analysis identified two ...heteroallelic mutations, a frameshift mutation (c.220insC) and a missense mutation (V790M). The muscle biopsy showed dramatic pre- and postsynaptic structural abnormalities of the neuromuscular junction and severe decrease in acetylcholine receptor (AChR) ε-subunit and MuSK expression. In vitro and in vivo expression experiments were performed using mutant MuSK reproducing the human mutations. The frameshift mutation led to the absence of MuSK expression. The missense mutation did not affect MuSK catalytic kinase activity but diminished expression and stability of MuSK leading to decreased agrin-dependent AChR aggregation, a critical step in the formation of the neuromuscular junction. In electroporated mouse muscle, overexpression of the missense mutation induced, within a week, a phenotype similar to the patient muscle biopsy: a severe decrease in synaptic AChR and an aberrant axonal outgrowth. These results strongly suggest that the missense mutation, in the presence of a null mutation on the other allele, is responsible for the dramatic synaptic changes observed in the patient.
Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in ~260 genes. Albeit that many genes are implicated ...in IRD, for 30–50% of the cases, the gene defect is unknown. These cases may be explained by novel gene defects, by overlooked structural variants, by variants in intronic, promoter or more distant regulatory regions, and represent synonymous variants of known genes contributing to the dysfunction of the respective proteins. Patients with one subgroup of IRD, namely incomplete congenital stationary night blindness (icCSNB), show a very specific phenotype. The major cause of this condition is the presence of a hemizygous pathogenic variant in CACNA1F. A comprehensive study applying direct Sanger sequencing of the gene‐coding regions, exome and genome sequencing applied to a large cohort of patients with a clinical diagnosis of icCSNB revealed indeed that seven of the 189 CACNA1F‐related cases have intronic and synonymous disease‐causing variants leading to missplicing as validated by minigene approaches. These findings highlight that gene‐locus sequencing may be a very efficient method in detecting disease‐causing variants in clinically well‐characterized patients with a diagnosis of IRD, like icCSNB.
In this study we show by state‐of‐the art sequencing methods and minigene approaches that at least 4% of CACNA1F‐mediated inherited retinal disorders are due to intronic or synonymous variants. Together with novel gene defects this may explain unsolved cases with inherited retinal disorders.
The International Committee on Taxonomy of Viruses (ICTV) Filoviridae Study Group prepares proposals on the classification and nomenclature of filoviruses to reflect current knowledge or to correct ...disagreements with the International Code of Virus Classification and Nomenclature (ICVCN). In recent years, filovirus taxonomy has been corrected and updated, but parts of it remain controversial, and several topics remain to be debated. This article summarizes the decisions and discussion of the currently acting ICTV Filoviridae Study Group since its inauguration in January 2012.
The sodium dihydrogen phosphate NaH
2
PO
4
can be obtained by slow evaporation at room temperature and characterized by X-ray powder diffraction, scanning electron microscopy (SEM), and electrical ...impedance spectroscopy. The X-ray diffraction pattern revealed that the sample presents a single phase that crystallizes in the monoclinic structure with a P2
1
/c space group, and the unit cell parameters are
a
= 6.8034 Å,
b
= 13.4014 Å,
c
= 7.2986 Å, and β = 92.827°. The dielectric impedance properties were studied over the range of frequency between 10
3
Hz and 1 MHz and in the temperature range of 300–440 K. The
Z
′ and
Z
″ versus frequency plots are well fitted to an equivalent circuit model. The circuits consist of the parallel combination of resistance (R), fractal capacitance (CPE), and capacitance (C). Furthermore, the frequency-dependent AC conductivity obeys Jonscher’s universal power law. In fact, the near values of activation energy obtained from the modulus spectra and conductivity confirm that the transport happens through a proton-hopping mechanism, dominated by the motion of the proton H
+
in the structure of the investigated materials.
ICTV Virus Taxonomy Profile: Filoviridae Kuhn, Jens H; Amarasinghe, Gaya K; Basler, Christopher F ...
Journal of general virology,
06/2019, Letnik:
100, Številka:
6
Journal Article
Recenzirano
Odprti dostop
Members of the family Filoviridae produce variously shaped, often filamentous, enveloped virions containing linear non-segmented, negative-sense RNA genomes of 15-19 kb. Several filoviruses (e.g., ...Ebola virus) are pathogenic for humans and are highly virulent. Several filoviruses infect bats (e.g., Marburg virus), whereas the hosts of most other filoviruses are unknown. This is a summary of the International Committee on Taxonomy of Viruses (ICTV) Report on Filoviridae, which is available at www.ictv.global/report/filoviridae.Members of the family Filoviridae produce variously shaped, often filamentous, enveloped virions containing linear non-segmented, negative-sense RNA genomes of 15-19 kb. Several filoviruses (e.g., Ebola virus) are pathogenic for humans and are highly virulent. Several filoviruses infect bats (e.g., Marburg virus), whereas the hosts of most other filoviruses are unknown. This is a summary of the International Committee on Taxonomy of Viruses (ICTV) Report on Filoviridae, which is available at www.ictv.global/report/filoviridae.
The rarity of dust in metal-poor galaxies Fisher, David B; Bolatto, Alberto D; Herrera-Camus, Rodrigo ...
Nature (London),
01/2014, Letnik:
505, Številka:
7482
Journal Article
Recenzirano
Galaxies observed at redshift z > 6, when the Universe was less than a billion years old, thus far very rarely show evidence of the cold dust that accompanies star formation in the local Universe, ...where the dust-to-gas mass ratio is around one per cent. A prototypical example is the galaxy Himiko (z = 6.6), which--a mere 840 million years after the Big Bang--is forming stars at a rate of 30-100 solar masses per year, yielding a mass assembly time of about 150 × 10(6) years. Himiko is thought to have a low fraction (2-3 per cent of the Sun's) of elements heavier than helium (low metallicity), and although its gas mass cannot yet be determined its dust-to-stellar mass ratio is constrained to be less than 0.05 per cent. The local dwarf galaxy I Zwicky 18, which has a metallicity about 4 per cent that of the Sun's and is forming stars less rapidly (assembly time about 1.6 × 10(9) years) than Himiko but still vigorously for its mass, is also very dust deficient and is perhaps one of the best analogues of primitive galaxies accessible to detailed study. Here we report observations of dust emission from I Zw 18, from which we determine its dust mass to be 450-1,800 solar masses, yielding a dust-to-stellar mass ratio of about 10(-6) to 10(-5) and a dust-to-gas mass ratio of 3.2-13 × 10(-6). If I Zw 18 is a reasonable analogue of Himiko, then Himiko's dust mass must be around 50,000 solar masses, a factor of 100 below the current upper limit. These numbers are quite uncertain, but if most high-z galaxies are more like Himiko than like the very-high-dust-mass galaxy SDSS J114816.64 + 525150.3 at z ≈ 6, which hosts a quasar, then our prospects for detecting the gas and dust inside such galaxies are much poorer than hitherto anticipated.
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, KISLJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
To evaluate the effect of translation on a large series of low-energy proximal humerus fractures initially treated nonoperatively.
Retrospective multicenter analysis.
Five level-one trauma centers.
...Two hundred ten patients (152 F; 58 M), average age 64, with 112 left- and 98 right-sided low-energy proximal humerus fractures (OTA/AO 11-A-C).
All patients were initially treated nonoperatively and were followed for an average of 231 days. Radiographic translation in the sagittal and coronal planes was measured. Patients with anterior translation were compared with those with posterior or no translation. Patients with ≥80% anterior humeral translation were compared with those with <80% anterior translation, including those with no or posterior translation.
The primary outcome was failure of nonoperative treatment resulting in surgery and the secondary outcome was symptomatic malunion.
Nine patients (4%) had surgery, 8 for nonunion and 1 for malunion. All 9 patients (100%) had anterior translation. Anterior translation compared with posterior or no sagittal plane translation was associated with failure of nonoperative management requiring surgery ( P = 0.012). In addition, of those with anterior translation, having ≥80% anterior translation compared with <80% was also associated with surgery ( P = 0.001). Finally, 26 patients were diagnosed with symptomatic malunion, of whom translation was anterior in 24 and posterior in 2 ( P = 0.0001).
In a multicenter series of proximal humerus fractures, anterior translation of >80% was associated with failure of nonoperative care resulting in nonunion, symptomatic malunion, and potential surgery.
Prognostic Level III. See Instructions for Authors for a complete description of levels of evidence.
We present spatially resolved (∼50 pc) imaging of molecular gas species in the central kiloparsec of the nearby starburst galaxy NGC 253, based on observations taken with the Atacama Large ...Millimeter/submillimeter Array. A total of 50 molecular lines are detected over a 13 GHz bandwidth imaged in the 3 mm band. Unambiguous identifications are assigned for 27 lines. Based on the measured high CO/C{sup 17}O isotopic line ratio (≳350), we show that {sup 12}CO(1-0) has moderate optical depths. A comparison of the HCN and HCO{sup +} with their {sup 13}C-substituted isotopologues shows that the HCN(1-0) and HCO{sup +}(1-0) lines have optical depths at least comparable to CO(1-0). H{sup 13}CN/H{sup 13}CO{sup +} (and H{sup 13}CN/HN{sup 13}C) line ratios provide tighter constraints on dense gas properties in this starburst. SiO has elevated abundances across the nucleus. HNCO has the most distinctive morphology of all the bright lines, with its global luminosity dominated by the outer parts of the central region. The dramatic variation seen in the HNCO/SiO line ratio suggests that some of the chemical signatures of shocked gas are being erased in the presence of dominating central radiation fields (traced by C{sub 2}H and CN). High density molecular gas tracers (including HCN, HCO{sup +}, and CN) are detected at the base of the molecular outflow. We also detect hydrogen β recombination lines that, like their α counterparts, show compact, centrally peaked morphologies, distinct from the molecular gas tracers. A number of sulfur based species are mapped (CS, SO, NS, C{sub 2}S, H{sub 2}CS, and CH{sub 3}SH) and have morphologies similar to SiO.
Background & Aims Covert hepatic encephalopathy (CHE) impairs quality of life (QOL) and can be difficult to diagnose. Patient-administered methods that do not require specialized tests or equipment ...might increase rates of detection. We performed a longitudinal study to determine whether demographic data and responses to a validated QOL questionnaire, the Sickness Impact Profile (SIP), can identify patients with CHE. Methods Patients with cirrhosis without prior overt HE were recruited from outpatient liver clinics at the Virginia Commonwealth University Medical Center, from August 2008 through February 2012. We performed cognitive tests on 170 patients (mean age, 55 y; mean model for end-stage liver disease score, 9; 50% with hepatitis C–associated and 11% with alcohol-associated cirrhosis). Patients also were given the SIP questionnaire (136 questions on 12 QOL topics, requiring a yes or no answer) at enrollment, at 6 months, and at 12 months. The proportion of patients that responded “yes” to each question was compared between those with and without CHE. Patient variables (noncognitive), demographics (age, education, sex, alcoholic etiology), and SIP questions that produced different responses between groups were analyzed by logistic regression and receiver operating characteristic analyses. Results Based on cognitive test results, 93 patients (55%) had CHE when the study began. They had a higher proportion of “yes” responses to 54 questions on the SIP questionnaire, across all categories. We developed a formula to identify patients with CHE based on age, sex, and responses to 4 SIP questions (a SIP CHE score). Baseline SIP CHE scores greater than 0 identified patients with CHE with 80% sensitivity and 79% specificity. Of the 98 patients who returned for the 6-month evaluation, 50% had CHE (the SIP CHE identified these patients with 88% sensitivity). Of the 50 patients who returned for the 12-month evaluation, 32% had CHE (the SIP CHE score identified these patients with 81% sensitivity). Conclusions We developed a system to identify patients with CHE based on age, sex, and responses to 4 SIP questions; this formula identified patients with CHE with more than 80% sensitivity over a 12-month period after the initial enrollment. Patient-administered CHE screening strategies that do not include specialized tests could increase the detection of CHE and improve therapy.
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