499 research outputs found
Cystinosis: practical tools for diagnosis and treatment
Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage. The diagnosis can be missed in infants, because not all signs of renal Fanconi syndrome are present during the first months of life. In older patients cystinosis can mimic idiopathic nephrotic syndrome due to focal and segmental glomerulosclerosis. Measuring elevated white blood cell cystine content is the corner stone for the diagnosis. The diagnosis is confirmed by molecular analysis of the cystinosin gene. Corneal cystine crystals are invariably present in all patients with cystinosis after the age of 1 year. Treatment with the cystine depleting drug cysteamine should be initiated as soon as possible and continued lifelong to prolong renal function survival and protect extra-renal organs. This educational feature provides practical tools for the diagnosis and treatment of cystinosis
Gitelman syndrome
Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence of heterozygotes is approximately 1% in Caucasian populations, making it one of the most frequent inherited renal tubular disorders. In the majority of cases, symptoms do not appear before the age of six years and the disease is usually diagnosed during adolescence or adulthood. Transient periods of muscle weakness and tetany, sometimes accompanied by abdominal pain, vomiting and fever are often seen in GS patients. Paresthesias, especially in the face, frequently occur. Remarkably, some patients are completely asymptomatic except for the appearance at adult age of chondrocalcinosis that causes swelling, local heat, and tenderness over the affected joints. Blood pressure is lower than that in the general population. Sudden cardiac arrest has been reported occasionally. In general, growth is normal but can be delayed in those GS patients with severe hypokalemia and hypomagnesemia
Protons in near earth orbit
The proton spectrum in the kinetic energy range 0.1 to 200 GeV was measured
by the Alpha Magnetic Spectrometer (AMS) during space shuttle flight STS-91 at
an altitude of 380 km. Above the geomagnetic cutoff the observed spectrum is
parameterized by a power law. Below the geomagnetic cutoff a substantial second
spectrum was observed concentrated at equatorial latitudes with a flux ~ 70
m^-2 sec^-1 sr^-1. Most of these second spectrum protons follow a complicated
trajectory and originate from a restricted geographic region.Comment: 19 pages, Latex, 7 .eps figure
A Study of Cosmic Ray Secondaries Induced by the Mir Space Station Using AMS-01
The Alpha Magnetic Spectrometer (AMS-02) is a high energy particle physics
experiment that will study cosmic rays in the to range and will be installed on the International Space Station
(ISS) for at least 3 years. A first version of AMS-02, AMS-01, flew aboard the
space shuttle \emph{Discovery} from June 2 to June 12, 1998, and collected
cosmic ray triggers. Part of the \emph{Mir} space station was within the
AMS-01 field of view during the four day \emph{Mir} docking phase of this
flight. We have reconstructed an image of this part of the \emph{Mir} space
station using secondary and emissions from primary cosmic rays
interacting with \emph{Mir}. This is the first time this reconstruction was
performed in AMS-01, and it is important for understanding potential
backgrounds during the 3 year AMS-02 mission.Comment: To be submitted to NIM B Added material requested by referee. Minor
stylistic and grammer change
Search for antihelium in cosmic rays
The Alpha Magnetic Spectrometer (AMS) was flown on the space shuttle
Discovery during flight STS-91 in a 51.7 degree orbit at altitudes between 320
and 390 km. A total of 2.86 * 10^6 helium nuclei were observed in the rigidity
range 1 to 140 GV. No antihelium nuclei were detected at any rigidity. An upper
limit on the flux ratio of antihelium to helium of < 1.1 * 10^-6 is obtained.Comment: 18 pages, Latex, 9 .eps figure
The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results
BACKGROUND: The European Rare Kidney Disease Reference Network (ERKNet) recently established ERKReg, a Web-based registry for all patients with rare kidney diseases. The main objectives of this core registry are to generate epidemiological information, identify current patient cohort for clinical research, explore diagnostic and therapeutic management practices, and monitor treatment performance and patient's outcomes. The registry has a modular design that allows to integrate comprehensive disease-specific registries as extensions to the core database. The diagnosis (Orphacode) and diagnostic information (clinical, imaging, histopathological, biochemical, immunological and genetic) are recorded. Anthropometric, kidney function, and disease-specific management and outcome items informing a set of 61 key performance indicators (KPIs) are obtained annually. Data quality is ensured by automated plausibility checks upon data entry and regular offline database checks prompting queries. Centre KPI statistics and benchmarking are calculated automatically. RESULTS: Within the first 24 months since its launch, 7607 patients were enrolled to the registry at 45 pediatric and 12 specialized adult nephrology units from 21 countries. A kidney disease diagnosis had been established in 97.1% of these patients at time of enrolment. While 199 individual disease entities were reported by Orphacode, 50% of the cohort could be classified with 11, 80% with 43 and 95% with 92 codes. Two kidney diagnoses were assigned in 6.5% of patients; 5.9% suffered from syndromic disease. Whereas glomerulopathies (54.8%) and ciliopathies including autosomal dominant polycystic kidney disease (ADPKD) (31.5%) were the predominant disease groups among adults, the pediatric disease spectrum encompassed congenital anomalies of the kidney and urinary tract (CAKUT) (33.7%), glomerulopathies (30.7%), ciliopathies (14.0%), tubulopathies (9.2%), thrombotic microangiopathies (5.6%), and metabolic nephropathies (4.1%). Genetically confirmed diagnoses were reported in 24% of all pediatric and 12% adult patients, whereas glomerulopathies had been confirmed by kidney biopsy in 80.4% adult versus 38.5% pediatric glomerulopathy cases. CONCLUSIONS: ERKReg is a rapidly growing source of epidemiological information and patient cohorts for clinical research, and an innovative tool to monitor management quality and patient outcomes
Search for Branons at LEP
We search, in the context of extra-dimension scenarios, for the possible
existence of brane fluctuations, called branons. Events with a single photon or
a single Z-boson and missing energy and momentum collected with the L3 detector
in e^+ e^- collisions at centre-of-mass energies sqrt{s}=189-209$ GeV are
analysed. No excess over the Standard Model expectations is found and a lower
limit at 95% confidence level of 103 GeV is derived for the mass of branons,
for a scenario with small brane tensions. Alternatively, under the assumption
of a light branon, brane tensions below 180 GeV are excluded
Search for Branons at LEP
We search, in the context of extra-dimension scenarios, for the possible
existence of brane fluctuations, called branons. Events with a single photon or
a single Z-boson and missing energy and momentum collected with the L3 detector
in e^+ e^- collisions at centre-of-mass energies sqrt{s}=189-209$ GeV are
analysed. No excess over the Standard Model expectations is found and a lower
limit at 95% confidence level of 103 GeV is derived for the mass of branons,
for a scenario with small brane tensions. Alternatively, under the assumption
of a light branon, brane tensions below 180 GeV are excluded
Measurement of Exclusive rho^0 rho^0 Production in Two-Photon Collisions at High Q^2 at LEP
Exclusive rho rho production in two-photon collisions involving a single
highly virtual photon is studied with data collected at LEP at centre-of-mass
energies 89GeV < \sqrt{s} < 209GeV with a total integrated luminosity of
854.7pb^-1 The cross section of the process gamma gamma^* -> rho rho is
determined as a function of the photon virtuality, Q^2 and the two-photon
centre-of-mass energy, Wgg, in the kinematic region: 1.2GeV^2 < Q^2 < 30GeV^2
and 1.1GeV < Wgg < 3GeV
Neutral-Current Four-Fermion Production in e+e- Interactions at LEP
Neutral-current four-fermion production, e+e- -> ffff is studied in 0.7/fb of
data collected with the L3 detector at LEP at centre-of-mass energies
root(s)=183-209GeV. Four final states are considered: qqvv, qqll, llll and
llvv, where l denotes either an electron or a muon. Their cross sections are
measured and found to agree with the Standard Model predictions. In addition,
the e+e- -> Zgamma* -> ffff process is studied and its total cross section at
the average centre-of-mass energy 196.6GeV is found to be 0.29 +/- 0.05 +/-
0.03 pb, where the first uncertainty is statistical and the second systematic,
in agreement with the Standard Model prediction of 0.22 pb. Finally, the mass
spectra of the qqll final states are analysed to search for the possible
production of a new neutral heavy particle, for which no evidence is found
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