Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation.

Biallelic mutations in the SLC30A10 gene cause an inborn error of Mn metabolism characterized by hypermanganesemia, polycythemia, early-onset dystonia, and liver cirrhosis (HMDPC). To date, only 14 families from various ethnic groups have been reported. Here, we describe 10 patients from 7 unrelated Egyptian families with HMDPC. Markedly elevated blood Mn levels, the characteristic basal ganglia hyperintensity on T1-weighted images, and variable degrees of extrapyramidal manifestations with or without liver disease were cardinal features in all patients. Eight patients presented with striking early diseased onset (≤2 years). Unexpectedly, early hepatic involvement before the neurological regression was noted in 3 patients. Mutational analysis of SLC30A10 gene revealed 6 novel homozygous mutations (c.77T > C (p.Leu26Pro), c.90C > G (p.Tyr30*), c.119A > C (p.Asp40Ala), c.122_124delCCT (p.Ser41del), c.780_782delCAT (p.Iso260del) and c.957 + 1G > C). Treatment using 2,3 dimercaptosuccinic acid as a manganese chelating agent showed satisfactory results with improvement of biochemical markers, hepatic manifestations and relative amelioration of the neurological symptoms. Our findings present a large cohort of patients with HMDPC from same ethnic group. The majority of our patients showed severe and early presentation with clear phenotypic variability among sibship. Moreover, we extend the phenotypic and mutational spectrum and emphasize the importance of early diagnosis and treatment of this potentially fatal disorder.

Efficacious elimination of crystal violet pollutant via photo-Fenton process based on Gd(2-x)La(x)Zr2O7 nanoparticles.

The photo-Fenton process is an appropriate method of the Advanced Oxidation Process that is used in the photocatalysis of organic dyes like crystal violet (CV). La3+ ion substituted gadolinium zirconium oxide Gd(2-x)La(x)Zr2O7 nanopowders (x = 0.1, 0.2, 0.3, and 0.5) have been successfully prepared by using sol-gel auto-combustion method to be used for the efficient photocatalysis of CV with photo-Fenton process. The well-crystallized defect-fluorite, structured with space group: Fm-3m, was detected using X-ray diffraction analysis. The lattice parameters were found to increase with the evaluated La3+ ion concentration. The grain size of the synthesized powders increased with the increase in La3+ ion content. The SAED patterns depicted fluorite structured fluorite. UV/Vis. spectrophotometer was used for the determination of band gap energy of Gd(2-x)La(x)Zr2O7 nanopowders which increased with increasing La3+ ion content. It was found to enhance from 4 to 3.6 eV. The visible spectrophotometer was used for determining unknown concentrations during the photocatalysis process to assure the effectiveness of the process. Overall, results illustrate that the photo-Fenton reaction on Gd(2-x)La(x)Zr2O7 performed excellently in removing crystal violet (CV). The photo-remediation ratio of CV reached 90% within 1 h.

Investigation on optical, structural and electrical properties of solid-state polymer nanocomposites electrolyte incorporated with Ag nanoparticles.

A solid polymer electrolyte based on polyvinyl alcohol (PVA)/carboxymethyl cellulose (CMC)/polyethylene 3,4-dioxythiophene: sodium polystyrene sulfonate (PEDOT:PSS) has been prepared with various concentrations of incorporated silver (Ag) nanoparticles (NPs) by using solution cast approach. The FTIR spectroscopic study revealed the complexation between the polymeric nanocomposite (PNC) and the Ag NPs. The X-ray diffraction (XRD) results infer that the semicrystalline phase of PNC decreases as the amount of incorporated Ag NPs increases. The transmission electron microscope (TEM) image revealed that Ag NPs have diameters ranging from 22 to 43 nm. Complex dielectric permittivity and alternating current (AC) electrical conductivity of nanocomposite films have been investigated in the frequency range from 0.1 Hz to 20 MHz at 30 °C. Dc conductivity ([Formula: see text]) values for the nanocomposite films are estimated from AC conductivity plots. The [Formula: see text] value was observed to increase from 1.98 × 10-9 to 2.29 × 10-7 S.cm-1 for the PNC system incorporated with optimal Ag NPs. From complex impedance (Z*) analysis, it has been found that the bulk electrical resistance (Rb) of the PNC films decreases with increasing the Ag NPs content. Therefore, these obtained PNC films have promising applications in energy storage devices.

Optical and dielectric characteristics of polyethylene oxide/sodium alginate-modified gold nanocomposites.

Films of polyethylene oxide and sodium alginate polymer blend (50/50 wt%) embedded with different quantities of Au nanoparticles with size 3-32 nm were made using the casting process. The nanocomposite films were examined by XRD analysis, FT-IR spectroscopy, TEM, UV/vis spectroscopy, and AC conductivity and dielectric parameter measurements. The XRD spectra revealed the amorphous nature of the prepared films (PEO/SA-Au NPs). From the Fourier transform infrared spectra it can be seem that the intensity of the FT-IR bands decreased which depicted the existence of the interaction between (PEO/SA) virgin polymer and gold nanoparticles. The TEM micrographs showed a cubic-structure for Au NPs with an average size of 15-20 nm. The optical properties of the polymer composite were examined by ultraviolet-visible techniques. In a direct transition the optical energy gap (E g) of the prepared films is decreased from 4.73 to 2.92 eV and in an indirect transition decreased from 2.95 to 1.50 eV. The dielectric and electrical spectra of the obtained films were examined via dielectric broad-band spectroscopy. The electrical and dielectric measurements are appropriate for the use of the polymer nanocomposite films in the fabrication of electroactive materials.

Structural and optical absorption studies on Cr2O3 doped SrO-P2O5 glasses.

Cr2O3 doped glasses in the system xCr2O3-(60-x) P2O5-40SrO, where x = 0.0, 0.025, 0.05, 0.1, 0.2, 0.4 & 0.6 mol% were prepared and investigated by X-ray, UV-Vis, and FT infrared spectroscopy. According to the X-ray data, no sharp peaks can be observed, but only abroad halo which points the amorphous nature of the glass samples. Optical absorptions have shown that Cr ions are present in two possible oxidation states (trivalent & hexavalent). Increasing Cr2O3 concentrations in the glass network cause a reduction in the indirect and direct optical energy gap of prepared samples from 3.94-3.5 eV and 4.92-4.4 eV, respectively. This behavior is related to the network forming ability of Cr2O3. FTIR spectra of Cr2O3 containing glass showed some differences compared to base glass samples. In addition, calculated physical and optical parameters reveals a close similarity to base glass that can be correlated to the minor addition of Cr2O3.

Influence of gamma irradiation on linear and nonlinear optical properties of nanocrystalline manganese(III) chloride tetraphenylporphine thin films.

90 nm thickness of MnTPPCl thin films were deposited by thermal evaporation technique on glass and quartz substrates under vacuum. The examined thin films were irradiated by 60Co γ-rays with 150 kGy. XRD and FTIR techniques are used to comprehend the structure of MnTPPCl thin films. The results confirmed that the structure of pristine thin films is nanocrystallites dispersed in the amorphous matrix and the irradiated films have an amorphous structure. Refractive index, oscillator's parameters (dispersion energy, Ed, oscillator energy, Eo), the absorption coefficient, optical energy gap, and Urbach energy were estimated before and after exposure to γ-irradiation by using spectrophotometric measurements. All mentioned parameters were influenced by the γ-irradiation process. The type of electronic transition was classified as a direct allowed transition. The gamma irradiation process was caused an increase in the fundamental band gap energy from 2.48 to 2.52 eV (blue shift) which is good for solar cells window. Third-order nonlinear optical susceptibility χ(3) and the nonlinear refractive index n2 of MnTPPCl thin films were studied before and after γ-irradiation. An increase in χ(3) and n2 with γ-irradiation is observed, so it is recommended to be used as optical switching applications.