195 research outputs found
Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations
Propionic acidemia (PA) is an inherited metabolic disease caused by the deficiency of one of the four biotin-dependent enzymes propionyl-CoA carboxylase (PCC), and is characterized by coma and death in unrecognized patients, additionally late diagnosis leads to severe developmental delay and neurological sequels. Manifestations of PA over time can include growth impairment, intellectual disability, seizures, basal ganglia lesions, pancreatitis, and cardiomyopathy. Other rarely reported complications include optic atrophy, hearing loss, premature ovarian insufficiency, and chronic renal failure. Mutations in PCCA-PCCB genes cause the clinically heterogeneous disease of PA. In this study, we investigate the mutation spectrum of PCCAPCCB genes and phenotypic features of 27 Turkish patients with PA from the South and Southeast parts of Turkey. We report 12 novel PA mutations, five affecting the PCCA gene and 7 affecting the PCCB gene
The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS
Background: Glutaric aciduria type 1(GA-1) is an inherited cerebral organic aciduria.
Untreated patients with GA-1 have a risk of acute encephalopathic crises during the first
6 years of life. In so far as GA-1 desperately does not exist in Turkish newborn screening
(NBS) program, most patients in our study were late-diagnosed. /
Method: This study included 41 patients diagnosed with acylcarnitine profile, urinary
organic acids, mutation analyses in the symptomatic period. We presented with
clinical, neuroradiological, and molecular data of our 41 patients. /
Results: The mean age at diagnosis was 14.8 13.9 (15 days to 72 months) and, high
blood glutaconic acid, glutarylcarnitine and urinary glutaric acid (GA) levels in 41
patients were revealed. Seventeen different mutations in the glutaryl-CoA dehydrogenase gene were identified, five of which were novel. The patients, most of whom were
late-diagnosed, had a poor neurological outcome. Treatment strategies made a little
improvement in dystonia and the frequency of encephalopathic attacks. /
Conclusion: All GA-1 patients in our study were severely affected since they were latediagnosed, while others show that GA-1 is a treatable metabolic disorder if it is
diagnosed with NBS. This study provides an essential perspective of the severe impact
on GA-1 patients unless it is diagnosed with NBS. We immediately advocate GA-1 to be
included in the Turkish NBS
Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign
Mucopolysaccharidosis type-II (MPS-II) is an X-linked lysosomal storage disorder. Here, we report an 8-year-old boy with pebbling sign in the scapular region, coarse facies, claw hand, diastolic murmur, and hepatomegaly. With decreased iduronate-2-sulfatase activity and hemizygous mutation in the IDS gene, the diagnosis was MPS-II. Pebbling sign is a rare but pathognomonic sign of MPS-II
String Matching and 1d Lattice Gases
We calculate the probability distributions for the number of occurrences
of a given letter word in a random string of letters. Analytical
expressions for the distribution are known for the asymptotic regimes (i) (Gaussian) and such that is finite
(Compound Poisson). However, it is known that these distributions do now work
well in the intermediate regime . We show that the
problem of calculating the string matching probability can be cast into a
determining the configurational partition function of a 1d lattice gas with
interacting particles so that the matching probability becomes the
grand-partition sum of the lattice gas, with the number of particles
corresponding to the number of matches. We perform a virial expansion of the
effective equation of state and obtain the probability distribution. Our result
reproduces the behavior of the distribution in all regimes. We are also able to
show analytically how the limiting distributions arise. Our analysis builds on
the fact that the effective interactions between the particles consist of a
relatively strong core of size , the word length, followed by a weak,
exponentially decaying tail. We find that the asymptotic regimes correspond to
the case where the tail of the interactions can be neglected, while in the
intermediate regime they need to be kept in the analysis. Our results are
readily generalized to the case where the random strings are generated by more
complicated stochastic processes such as a non-uniform letter probability
distribution or Markov chains. We show that in these cases the tails of the
effective interactions can be made even more dominant rendering thus the
asymptotic approximations less accurate in such a regime.Comment: 44 pages and 8 figures. Major revision of previous version. The
lattice gas analogy has been worked out in full, including virial expansion
and equation of state. This constitutes the main part of the paper now.
Connections with existing work is made and references should be up to date
now. To be submitted for publicatio
Thermal Links for the Implementation of an Optical Refrigerator
Optical refrigeration has been demonstrated by several groups of researchers, but the cooling elements have not been thermally linked to realistic heat loads in ways that achieve the desired temperatures. The ideal thermal link will have minimal surface area, provide complete optical isolation for the load, and possess high thermal conductivity. We have designed thermal links that minimize the absorption of fluoresced photons by the heat load using multiple mirrors and geometric shapes including a hemisphere, a kinked waveguide, and a tapered waveguide. While total link performance is dependent on additional factors, we have observed net transmission of photons with the tapered link as low as 0.04%. Our optical tests have been performed with a surrogate source that operates at 625 nm and mimics the angular distribution of light emitted from the cooling element of the Los Alamos solid state optical refrigerator. We have confirmed the optical performance of our various link geometries with computer simulations using CODE V optical modeling software. In addition we have used the thermal modeling tool in COMSOL MULTIPHYSICS to investigate other heating factors that affect the thermal performance of the optical refrigerator. Assuming an ideal cooling element and a nonabsorptive dielectric trapping mirror, the three dominant heating factors are (1) absorption of fluoresced photons transmitted through the thermal link, (2) blackbody radiation from the surrounding environment, and (3) conductive heat transfer through mechanical supports. Modeling results show that a 1 cm3 load can be chilled to 107 K with a 100Wpump laser. We have used the simulated steady-state cooling temperatures of the heat load to compare link designs and system configurations
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