Vitamin E and Niemann–Pick Disease Type C

How to Cite this Article: Rezayi AR. Vitamin E and Niemann–Pick Disease Type C. Iran J Child Neurol. 2015 Autumn;9:4(Suppl.1): 23.Pls see Pdf.

The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran

How to Cite This Article: Noroozi Asl S, Vakili R, Ghaemi N, Eshraghi P. The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran. Iran J Child Neurol. Summer 2017; 11(3):53-56. AbstractNiemann–Pick disease type C (NP-C) is a rare neurovisceral and irreversible disease leading to premature death and disabling neurological signs. This autosomal recessive disease with incidence rate of 1:120000 is caused by mutations in either the NPC1 or the NPC2 gene, which leads to accumulation of cholesterol in body tissues especially brain and progressive neurological symptoms. NP-C is characterized by nonspecific visceral, neurological and psychiatric manifestations in infants. The neurological involvement is typically proceeded by systemic signs (cholestatic jaundice in the neonatal period or isolated spleno-or hepatosplenomegaly in infancy or childhood).Early detection of NPC is important so that therapy with miglustat can delay onset of neurological symptoms and prolong survival. We describe here three infants from Birjand, South Khorasan, eastern Iran in 2016 with splenomegaly and different neurological signs that diagnosis was confirmed by genetic study. In all of them, NPC-509 was pathologically increased. They also had an unreported homozygous mutation (c. 1415T>C, p.Leu472Pro) in exon 9 of the NPC1 gene. We found unreported homozygous mutation in NPC gene.Knowing this mutation is significant to our people. Genotype-phenotype correlations for this specific mutation needs to be further studied. References1. Mengel E, Klunemann H, Lourenco C, and et al. Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J Rare Dis 2013;8:166.2. Vanier MT: Niemann-Pick disease type C. Orphanet J Rare Dis 2010;5:16.3. Di Rocco M1, Dardis A, Madeo A, Barone R, Fiumara A. Early miglustat therapy in infantile Niemann-Pick disease type C. Pediatr Neurol 2012;47(1):40-3.4. Karimzadeh P, Tonekaboni SH, Ashrafi MR, et al. Effects of Miglustat on Stabilization of Neurological Disorder in Niemann–Pick Disease Type C Iranian Pediatric Case Series. J Child Neurol 2013;28(12):1599-606.5. Wijburg F, Sedel F, Pineda M et al. Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C. Neurology 2012;78(20):1560-7.6. Wraith JE, Imrie J. New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat. Ther Clin Risk Manag 2009;5:877-87.7. Patterson M, Hendriksz Ch, Walterfang M, et al. Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update. Mol Genet Metab 2012;106(3):330-44.8. Margaret M, Destinck DJ. Lipidosis(Lysosomal storage disease). Nelson Textbook of Pediatrics. 19th ed.Philadelphia: WB Saunders Company. 2011:488-9.9. Patterson M.C, Mengel E, Wijburg F, et al. Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis 2013;8:12

Niemann-Pick disease, type B with TRAP-positive storage cells and secondary sea blue histiocytosis

We present 2 cases of Niemann Pick disease, type B with secondary sea-blue histiocytosis. Strikingly, in both cases the Pick cells were positive for tartrate resistant acid phosphatase, a finding hitherto described only in Gaucher cells. This report highlights the importance of this finding as a potential cytochemical diagnostic pitfall in the diagnosis of Niemann Pick disease

The impact of tax uncertainty on irreversible investment

Traditional models of capital budgeting including taxes are based on deterministic tax rates and tax bases. In reality, however, there are multiple sources of tax uncertainty. Tax reforms induce frequent changes in both tax rates and tax bases, making future taxation of investments a stochastic process. Fiscal authorities and tax courts create additional tax uncertainty by interpreting current tax laws differently. Apart from fiscal tax uncertainty, there is modelspecific tax uncertainty, because investors use simplified models for computing an investment project's tax base and anticipate the actual tax base incorrectly. I analyze the effects of stochastic taxation on investment behaviour in a real options model. The potential investor holds an option to invest in an irreversible project with stochastic cash flows. To cover the combined effects of tax base and tax rate uncertainty, the investment's tax payment is modelled as a stochastic process that may be correlated with the project's cash flows. I show that increased uncertainty of tax payments has an ambiguous impact on investment timing. Thus, the popular view that tax uncertainty depresses real investment can be rejected. For low tax uncertainty, high cash flow uncertainty and high correlation of cash flows and tax payment, increased tax uncertainty may even accelerate investment. A higher expected tax payment delays investment. Surprisingly, a higher tax rate on interest income affects investment timing ambiguously. --

Niemann-pick disease type A-a case report

Niemann-Pick Disease is an autosomal recessive disorder of infancy, characterized by failure to thrive, hepatosplenomegaly and neurodegenerative changes. It is caused by inherited deficiency of an enzyme, acid sphingomyelinase. It leads to deposition of sphingomyelin and cholesterol within the lysosome of reticuloendothelial cells of various organs. Niemann-Pick Disease is classified into four types such as A, B, C and D. We present a case of niemann-pick disease type A. This case report encompasses an 18-month-old male child brought with complaints of progressive abdominal distension, developmental delay, intermittent fever and excessive cry. On examination patient had developmental delay and significant abdominal distension with moderate hepatosplenomegaly. Bone marrow examination showed characteristic lipid laden foamy histiocytes termed as niemann pick cells and sea blue histiocytes. Later on, liver biopsy and splenic aspiration cytology was performed, which also showed same type of foamy cells. Type A is very rare and a severe infantile form with neurologic degeneration resulting in death usually by 3 years of age. No treatment available for type A so far. It’s a rare disease in India. Genetic counseling.

Titan's atmosphere as observed by Cassini/VIMS solar occultations: CH4_4, CO and evidence for C2_2H6_6 absorption

We present an analysis of the VIMS solar occultations dataset, which allows us to extract vertically resolved information on the characteristics of Titan's atmosphere between 100-700 km with a characteristic vertical resolution of 10 km. After a series of data treatment procedures, 4 occultations out of 10 are retained. This sample covers different seasons and latitudes of Titan. The transmittances show clearly the evolution of the haze and detect the detached layer at 310 km in Sept. 2011 at mid-northern latitudes. Through the inversion of the transmission spectra with a line-by-line radiative transfer code we retrieve the vertical distribution of CH$_4$ and CO mixing ratio. The two methane bands at 1.4 and 1.7 {\mu}m are always in good agreement and yield an average stratospheric abundance of $1.28\pm0.08$%. This is significantly less than the value of 1.48% obtained by the GCMS/Huygens instrument. The analysis of the residual spectra after the inversion shows that there are additional absorptions which affect a great part of the VIMS wavelength range. We attribute many of these additional bands to gaseous ethane, whose near-infrared spectrum is not well modeled yet. Ethane contributes significantly to the strong absorption between 3.2-3.5 {\mu}m that was previously attributed only to C-H stretching bands from aerosols. Ethane bands may affect the surface windows too, especially at 2.7 {\mu}m. Other residual bands are generated by stretching modes of C-H, C-C and C-N bonds. In addition to the C-H stretch from aliphatic hydrocarbons at 3.4 {\mu}m, we detect a strong and narrow absorption at 3.28 {\mu}m which we tentatively attribute to the presence of PAHs in the stratosphere. C-C and C-N stretching bands are possibly present between 4.3-4.5 {\mu}m. Finally, we obtain the CO mixing ratio between 70-170 km. The average result of $46\pm16$ ppm is in good agreement with previous studies.Comment: 51 pages, 28 figure

The State of Utah v. Willie Folkes : Reply Brief

Appeal from a conviction of possession of a controlled substance with intent to distribute for value in the Third Judicial District Court in and for Salt Lake County, State of Utah, the Honorable Jay E. Banks, presiding

Allowance for shareholder equity: implementing a neutral corporate income tax in the European Union

This paper proposes the introduction of a consumption-based corporate income tax in the European Union. Our proposal would guarantee neutrality regarding investment decisions and at the same time increase cost-efficiency. The proposal is based on the S-base cash flow tax, where transactions within the corporate sector are not at all taxable and only transactions be-tween shareholders and corporations are subject to tax. In contrast to existing S-base cash flow tax systems, tax deductibility of investments is deferred. Rather, the acquisition costs and capital endowments are compounded at the capital market rate and are set off against fu-ture capital gains. Dividends and withdrawals are fully taxable at the shareholder level. Be-cause of the similarities to the Allowance for Corporate Equity (ACE) tax our proposal is called Allowance for Shareholder Equity (ASE tax). The ASE tax exhibits the same neutrality properties as the traditional cash flow tax. More-over, the compounded inter-temporal credit method ensures that it is neutral with respect to the decision between domestic and foreign investment. To increase acceptance of the ASE tax, current taxpayers' documentation requirements will be reduced rather than extended. Our proposal is shaped in a way that it could be realized in a single EU country or in all member states of the EU. --