Persistent hypocalcaemia in a Chinese girl due to a novel de-novo activating mutation of the calciumsensing receptor gene

A significant proportion of patients formerly diagnosed with idiopathic hypoparathyroidism actually have activating mutation of the calcium-sensing receptor (CaSR) gene. Awareness of the possibility of activating mutation of CaSR gene in patients with sporadic idiopathic hypoparathyroidism is important because of its relevance to clinical management. This report is of a novel activating mutation of the CaSR gene identified in a 10-year-old Chinese girl who was initially diagnosed as having idiopathic hypoparathyroidism at 6 years of age after presenting with seizures. Her serum calcium level was difficult to maintain near the lower limit of normal despite treatment with high-dose calcitriol. Treatment with calcitriol produced significantly elevated urinary calcium-to-creatinine ratio. Direct sequencing of the CaSR gene showed a novel heterozygous mutation (p.Q735P (c.2204A>C)). Molecular genetic analysis of her parents demonstrated that both parents did not harbour the child's mutation, indicating that her mutation had arisen de novo. © 1995-2011 HKAM.published_or_final_versio

Role of scattering-factor anisotropy in electron, positron, and photon holography

We have studied the angular anisotropy in the scattering factor of electrons, positrons, and photons in solids. We show that as a function of angle, the maximum number of dips in the scattering factor's magnitude and jumps of near π in its phase are related to the angular momenta of the bound and resonance states of the potential. The effect of the scattering factor's anisotropy on low-energy electron and positron holographic wave-front reconstruction is discussed. Applying the variable-axis small-cone method, a good-quality reconstructed image is only possible within angular regions where the scattering factor is near isotropic. Thus the usable window for low-energy electron wave-front reconstruction is element dependent; the window size decreases as the atomic number increases. Positrons, on the other hand, are like photons and are not bound by the potential. For positrons or photons, there is no elemental dependence of the usable window and the entire backscattering regime is suitable for holographic reconstruction. We have established two rules that predict the maximum number of magnitude dips and phase jumps in the scattering factor for any element.published_or_final_versio

Ginkgo biloba extract (EGb761) inhibits mitochondria-dependent caspase pathway and prevents apoptosis in hypoxia-reoxygenated cardiomyocytes

Background: EGb761 is a standard extract from the leaves of Ginkgo biloba (Yinxing) containing ginkgo-flavone glycosides and terpenoid. The flavonoid components of EGb761 scavenge free radicals and protect myocardia from ischemia-reperfusion injury. The present study aims to determine the effects of the active compounds of EGb761 on mitochondria-dependent caspase pathway.Methods: Cardiomyocytes were exposed to 24 hours of hypoxia and four hours of reoxygenation, and pretreated with EGb761, bilobalide and quertcetin. By using immunoblot, immunofluorescent, biochemical and flow cytometry techniques, we compared the effects of EGb761 and its representative constituents including quercetin and bilobalides on regulating mitochondria-dependent caspases signal pathway and apoptotic cell death in the hypoxia-reoxygenated cardiomyocytes.Results: Pretreatment with EGb761 significantly inhibited the release of cytochrome c from mitochondria, the expression of caspase-3, cleavage activities of caspases and attenuated apoptotic cell death. The effects of quercetin on the release of cytochrome c, the cleavage activities of caspases and cell death were similar to those of EGb761 but better than those of bilobalide.Conclusion: The antioxidant constituents of EGb761 such as quercetin contribute to the cardioprotective effects of EGb761 and inhibit the mitochondria-dependent caspase pathway. It is possible that the mitochondria-dependent caspase pathway may be one of the molecular targets of EGb761 against myocardial ischemia-reperfusion injury. © 2011 Shen et al; licensee BioMed Central Ltd.published_or_final_versio

A review of the potential issues of pollution caused by the Mineral elements, Mercury, Lead and Arsenic, its possible impacts on the human beings and the suggested solutions

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Luminescent Cyclometalated Gold(III) Alkyl Complexes: Photophysical and Photochemical Properties

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Chinese herbal medicine for infertility with anovulation: a systematic review.

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Research on the allelopathic potential of wheat

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The performance and exhaust emissions of a diesel engine fuelled with Calophyllum inophyllum- palm biodiesel

© 2019 by the authors. Nowadays, increased interest among the scientific community to explore the Calophyllum inophyllum as alternative fuels for diesel engines is observed. This research is about using mixed Calophyllum inophyllum-palm oil biodiesel production and evaluation that biodiesel in a diesel engine. The Calophyllum inophyllum-palm oil methyl ester (CPME) is processed using the following procedure: (1) the crude Calophyllum inophyllum and palm oils are mixed at the same ratio of 50:50 volume %, (2) degumming, (3) acid-catalysed esterification, (4) purification, and (5) alkalinecatalysed transesterification. The results are indeed encouraging which satisfy the international standards, CPME shows the high heating value (37.9 MJ/kg) but lower kinematic viscosity (4.50 mm2/s) due to change the fatty acid methyl ester (FAME) composition compared to Calophyllum inophyllum methyl ester (CIME). The average results show that the blended fuels have higher Brake Specific Fuel Consumption (BSFC) and NOx emissions, lower Brake Thermal Efficiency (BTE), along with CO and HC emissions than diesel fuel over the entire range of speeds. Among the blends, CPME5 offered better performance compared to other fuels. It can be recommended that the CPME blend has great potential as an alternative fuel because of its excellent characteristics, better performance, and less harmful emission than CIME blends

Copy number gain of granulin-epithelin precursor (GEP) at chromosome 17q21 associates with overexpression in human liver cancer

Background: Granulin-epithelin precursor (GEP), a secretory growth factor, demonstrated overexpression in various human cancers, however, mechanism remain elusive. Primary liver cancer, hepatocellular carcinoma (HCC), ranks the second in cancer-related death globally. GEP controlled growth, invasion, metastasis and chemo-resistance in liver cancer. Noted that GEP gene locates at 17q21 and the region has been frequently reported to be amplified in subset of HCC. The study aims to investigate if copy number gain would associate with GEP overexpression. Methods: Quantitative Microsatellite Analysis (QuMA) was used to quantify the GEP DNA copy number, and fluorescent in situ hybridization (FISH) was performed to consolidate the amplification status. GEP gene copy number, mRNA expression level and clinico-pathological features were analyzed. Results: GEP DNA copy number determined by QuMA corroborated well with the FISH data, and the gene copy number correlated with the expression levels (n = 60, r = 0.331, P = 0.010). Gain of GEP copy number was observed in 20% (12/60) HCC and associated with hepatitis B virus infection status (P = 0.015). In HCC with increased GEP copy number, tight association between GEP DNA and mRNA levels were observed (n = 12, r = 0.664, P = 0.019). Conclusions: Gain of the GEP gene copy number was observed in 20% HCC and the frequency comparable to literatures reported on the chromosome region 17q. Increased gene copy number contributed to GEP overexpression in subset of HCC. © Yung et al; licensee BioMed Central.published_or_final_versio

Hospital Authority audit of the outcome of endoscopic resection of superficial upper gastro-intestinal lesions in Hong Kong

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