The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran

BACKGROUND:

Defects either in phenylalanine hydroxylase (PheOH) or in the production and recycling of its cofactor (tetrahydrobiopterin [BH4]) are the causes of primary hyperphenylalaninemia (HPA). The aim of our study was to investigate the current status of different variants of HPA Kurdish patients in Kermanshah province, Iran.

MATERIALS AND METHODS:

From 33 cases enrolled in our study, 32 were identified as HPA patients. Reassessing of pre-treatment phenylalanine concentrations and the analysis of urinary pterins was done by high-performance liquid chromatography method.

RESULTS:

A total of 30 patients showed PAH deficiency and two patients were diagnosed with BH4 deficiency (BH4/HPA ratio = 6.25%). Both of these two BH4-deficient patients were assigned to severe variant of dihydropteridine reductase (DHPR) deficiency. More than 75% of patients with PAH deficiency classified as classic phenylketonuria (PKU) according their levels of pre-treatment phenylalanine concentrations.

CONCLUSION:

Based on the performed study, we think that the frequency of milder forms of PKU is higher than those was estimated before and/or our findings here. Furthermore, the frequency of DHPR deficiency seems to be relatively high in our province. Since the clinical symptoms of DHPR deficiency are confusingly similar to that of classic PKU and its prognosis are much worse than classical PKU and cannot be solely treated with the PKU regime, our pilot study support that it is crucial to set up screening for BH4 deficiency, along with PAH deficiency, among all HPA patients diagnosed with HPA.     

Gold-deferrioxamine nanometric interface for selective recognition of Fe(III) using square wave voltammetry and electrochemical impedance spectroscopy methods

Deferrioxamine, a bacterial hydroxamic siderophore having high binding affinity for Fe(III), is used in its immobilized form, as self-assembled monolayer on Au, for accumulation and recognition of Fe(III) from the solution phase. The accumulated Fe(III) is detected via both active mode based on faradaic reduction current of Fe(III), and inactive mode based on impedimetric effect of accumulated Fe(III) against redox reaction of a suitable probe. Appropriate electrochemical techniques, square wave voltammetry and electrochemical impedance spectroscopy, are used for the transduction of analytical signals obtained by this sensor. Then, the parameters influencing the sensor response are optimized. In the best conditions, a linear response, from 1.0×10(-10) to 1.0×10(-7)M Fe(III) in logarithmic scale with a detection limit of 2.0×10(-11)M, and mean relative standard deviation of 1.7% for n=4 is observed. The results show that the sensor can be used for determination of Fe(III) in the presence of various inorganic ions and biological species. Validity of the method and applicability of the sensor are successfully tested by determination of Fe(III) in various real samples including plant tissue (corn leaves), industrial alloy (Ferrotitanium), and pharmaceutical samples (Venofer(?) ampoule, Ironorm(?) capsule, and V.M. Protein(?) powder).     

Redescription and remarks on the species Minniza persica (Pseudoscorpiones: Olpiidae) from Iran

Minniza persica, which has been described briefly by Beier in 1951 on the basis of specimens from Hormozgan and Mazandaran provinces of Iran, was recently collected again from Hormozgan and Fars provinces and is described and illustrated here. The subspecies M. persica deminuta Beier is regarded as synonymous with the nominate subspecies.     

Dietary supplementation with monosodium glutamate is safe and improves growth performance in postweaning pigs

Dietary intake of glutamate by postweaning pigs is markedly reduced due to low feed consumption. This study was conducted to determine the safety and efficacy of dietary supplementation with monosodium glutamate (MSG) in postweaning pigs. Piglets were weaned at 21 days of age to a corn and soybean meal-based diet supplemented with 0, 0.5, 1, 2, and 4 % MSG (n = 25/group). MSG was added to the basal diet at the expense of cornstarch. At 42 days of age (21 days after weaning), blood samples (10 mL) were obtained from the jugular vein of 25 pigs/group at 1 and 4 h after feeding for hematological and clinical chemistry tests; thereafter, pigs (n = 6/group) were euthanized to obtain tissues for histopathological examinations. Feed intake was not affected by dietary supplementation with 0–2 % MSG and was 15 % lower in pigs supplemented with 4 % MSG compared with the 0 % MSG group. Compared with the control, dietary supplementation with 1, 2 and 4 % MSG dose-dependently increased plasma concentrations of glutamate, glutamine, and other amino acids (including lysine, methionine, phenylalanine and leucine), daily weight gain, and feed efficiency in postweaning pigs. At day 7 postweaning, dietary supplementation with 1–4 % MSG also increased jejunal villus height, DNA content, and antioxidative capacity. The MSG supplementation dose-dependently reduced the incidence of diarrhea during the first week after weaning. All variables in standard hematology and clinical chemistry tests, as well as gross and microscopic structures, did not differ among the five groups of pigs. These results indicate that dietary supplementation with up to 4 % MSG is safe and improves growth performance in postweaning pigs.     

Immunogenicity of Salmonella enterica serovar Enteritidis virulence protein,InvH, and cross-reactivity of its antisera with Salmonella strains

Acellular vaccines containing bacterial immunodominant components such as surface proteins may be potent alternatives to live attenuated vaccines in order to reduce salmonellosis risk to human health. invH gene, an important part of needle complex in type three secretion system (TTSS) plays important role in efficient bacterial adherence and entry into epithelial cells. In this work we hypothesize that use of a 15 kDa recombinant InvH as Salmonella enterica serovar Enteritidis surface protein could provoke antibody production in mouse and would help us study feasibility of its potential for diagnosis and/or a recombinant vaccine. The purified InvH provoked significant rise of IgG in mice. Active protection induced by immunization with InvH against variable doses of S. enterica serovar Enteritidis, indicated that the immunized mice were completely protected against challenge with 10⁴ LD₅₀. The immunoreaction of sera from immunized mice with other Salmonella strains or cross reaction with sera of Salmonella strains inoculated mice is indicative of possessing by Salmonella strains of the surface protein, InvH, that can be employed in both prophylactic and diagnostic measures against S. enterica. Bacteria free spleen and ileum of the immunized mice in this study indicate that the invH gene affects bacterial invasion. Efficacy of the virulence protein, InvH, in shuttling into host cells in injectisome of S. enterica serovar Enteritidis and inhibition of this phenomenon by active immunization was shown in this study. In conclusion immunization with InvH protein can develop protection against S. enterica serovar Enteritidis infections. InvH in Salmonella strains can be exploited in protective measures as well as a diagnostic tool in Salmonella infections.     

Adsorption of Basic violet 16 from aqueous solutions by waste sugar beet pulp: kinetic,thermodynamic, and equilibrium isotherm studies

Waste sugar beet pulp has been used as adsorbent for the removal of a hazardous cationic dye, Basic violet 16, from its aqueous solution. Adsorption of the dye was studied as function of time, pH of the solution, dosage of the adsorbent, sieve size of the particles, concentration of the dye, and temperature. The initial pH of the dye solution did not affect the chemistry of the dye molecule and the surface of beet pulp. Langmuir and Freundlich adsorption isotherms were successfully employed, and on the basis of these models, the thermodynamic parameters were evaluated. Adsorption of Basic violet 16 on beet pulp was found to be an exothermic reaction. Time contact studies showed that more than 80% adsorption of the dye is achieved in less than 1 h. Kinetics investigations confirmed both pseudo-first-order and pseudo-second-order behaviors; on the other hand, it shows that the intraparticle diffusion step is not the only rate-controlling step in all concentrations.     

The removal of ρ-chlorophenol in aqueous cultures with free and alginate-immobilized cells of the microalga Tetraselmis suecica

The present study aimed at evaluating the ability of some isolated cyanobacterial and microalgal strains for the removal of ρ-chlorophenol (ρ-CP), an environmentally harmful contaminant. To identify the most efficient species, a screening program was carried out using 15 microalgal and cyanobacterial strains. Among them, Tetraselmis suecica was able to remove 67 % of the ρ-chlorophenol at an initial concentration of 20 mg L^?1 from the medium within a 10-day period. The efficacy of the process was dependent on the ρ-chlorophenol concentration. At concentrations above 60 mg L^?1 of the pollutant, no removal was observed due to the inhibitory effect of ρ-chlorophenol on the T. suecica cells. The effect of cell immobilization in alginate beads on T. suecica removal capacity was also examined. Using this technique, the removal efficacy for the initial ρ-CP concentration of 20 mg L^?1 increased up to 94 %.     

A genetic assay of three patients in the same family with Holt-Oram syndrome; a case report

Holt-Oram syndrome (HOS) is a developmental disorder inherited in an autosomal-dominant pattern. Affected organs are the heart and forelimbs with upper extremity skeletal defects and congenital heart malformation. In this study we present three cases of HOS in the same family. In one of these three individuals we detected a transition of C to T (CTG-GTT, V205V) in exon 7 of the TBX5 gene. This nucleotide change causes no amino acid change and potential pathologic effects remain unknown.Key Words: Holt-Oram syndrome, Congenital heart malformation, TBX5 gene