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     

Effects of the adsorption of alkali metal oxides on the electronic,optical, and thermodynamic properties of the Mg<Subscript>12</Subscript>O<Subscript>12</Subscript>nanocage: a density functional theory study

The effect of alkali metal oxides M _n O (M?=?Li, Na, K; n?=?2, 3, 4) on the geometric, electronic, and linear and nonlinear optical properties of the Mg₁₂O₁₂ nanocage was investigated by density-functional-based methods. According to the computational results, these alkali metal oxides are adsorbed on the Mg₁₂O₁₂ nanocage because this adsorption reduces its energy gap. The static first hyperpolarizability (β ₀) of the nanocage is dramatically increased in the presence of the alkali metal oxides, with the greatest increase seen in the presence of the superalkalis (i.e., M₃O; M?=?Li, Na, and K). The highest first hyperpolarizability (β ₀?≈?600,000 a.u.) was calculated for K₃O@Mg₁₂O₁₂, which was considerably more than that for Mg₁₂O₁₂. The thermodynamic properties and relative stabilities of these inorganic compounds are discussed.

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Graphical Abstract Optimized structure and DOS spectrum of K₃O(e@Mg₁₂O₁₂)

     

Measurement of some Benzylisoquinoline Alkaloids in Different Organs of Persian Poppy during Ontogenetical Stages

Papaver bracteatum, a perennial species, has been known as a rich source of thebaine and a potential alternative to Papaver somniferum for the production of codeine and some semisynthetic antagonist drugs. In this study, ion mobility spectrum (IMS) of the root, leaf, bottom part of stem, upper part of stem, capsule wall, petal, and capsule content during developmental stages of P. bracteatum including annual rosette, perennial rosette, bud initiation, pendulous bud, preflowering, and lancing were investigated. The IMS revealed thebaine, papaverine, and noscapine as the major components of the extracted alkaloids. Based on the results of the study it appears that, at least in part, there is a competition among the biosynthesis pathways of papaverine, noscapine, and morphinan alkaloids from a common source . Root and capsule wall were the most potent organs for extraction of thebaine, while lancing stage was the best developmental stage for thebaine exploitation. However, it seems that total biomass of root and capsule wall plays a key role in the final selection of favorite organ. Although papaverine and noscapine in the stem at preflowering stage had the most quantity, significant amounts were found in the capsule wall. In general, total alkaloid content of leaf was lower than the other plant parts.     

Variation in Essential Oil Yield and Composition of Dorema aucheri Boiss., an Endemic Medicinal Plant Collected from Wild Populations in Natural Habitats

In the present research, variability in essential oil (EO) composition of five Dorema aucheri populations collected from natural habitats in different regions of Iran, were investigated. The EO content of populations varied from 0.28 to 0.68%. According to gas chromatography/mass spectrometry analysis, β‐caryophyllene (7.17 – 35.73%), thymol (23.45 – 29.64%), β‐gurjunene (2.58 – 5.89%), carvacrol (1.32 – 2.67%) and cuparene (1.97 – 2.98%) were the major components. Hierarchical cluster, principal component and canonical correspondence analyses classified the studied populations into three groups based on major EO components. The environmental parameters of the collected sites were also evaluated. According to the results, it might be suggested that sandy soils with high mean annual precipitation were major environmental factors influencing the amount of β‐caryophyllene, while thymol, cuparene and caryophyllen oxide increased in silty and clay soils. Finally, the population collected in high altitudes and clay soils had higher amount of β‐gurjunene.     

Cobalt separation by <Emphasis Type="Italic">Alphaproteobacterium</Emphasis> MTB-KTN90: magnetotactic bacteria in bioremediation

Bioremediation of toxic metals by magnetotactic bacteria and magnetic separation of metal-loaded magnetotactic bacteria are of great interest. This bioprocess technique is rapid, efficient, economical, and environmentally friendly. In this study, cobalt removal potential of a novel isolated magnetotactic bacterium (Alphaproteobacterium MTB-KTN90) as a new biosorbent was investigated. The effects of various environmental parameters in the cobalt removal and the technique of magnetic separation of cobalt-loaded bacterial cells were studied. Cobalt removal by MTB-KTN90 was very sensitive to pH solution; higher biosorption capacity was observed around pH 6.5–7.0. When biomass concentration increased from 0.009 to 0.09 g/l, the biosorption efficiency increased from 13.87 % to 19.22 %. The sorption of cobalt by MTB-KTN90 was rapid during the first 15 min (859.17 mg/g dry weight). With the increasing of cobalt concentrations from 1 to 225 mg/l, the specific cobalt uptake increased. Maximum cobalt removal (1160.51 ± 15.42 mg/g dry weight) took place at optimum conditions; pH 7.0 with initial cobalt concentration of 115 mg/l at 60 min by 0.015 g/l of dry biomass. The results showed maximum values for constants of Langmuir and Freundlich models so far. The biosorption mechanisms were studied with FTIR, PIXE, and FESEM analysis. Cobalt-loaded MTB-KTN90 had ability to separate from solution by a simple magnetic separator. Magnetic response in MTB-KTN90 is due to the presence of unique intracellular magnetic nanoparticles (magnetosomes). The orientation magnetic separation results indicated that 88.55 % of cobalt was removed from solution. Consequently, Alphaproteobacterium MTB-KTN90 as a new biosorbent opens up good opportunities for the magnetic removal of cobalt from the polluted aquatic environments.     

Mathematical modeling of cell growth in a 3D scaffold and validation of static and dynamic cultures

Tissue engineering, an immensely important field in contemporary clinical practices, aims at the repair or replacement of damaged tissues. The mathematical model proposed herein shows the distribution and growth of cells in their characteristic time in a 3D scaffold model. This study contributes to the progress of simulation techniques in static and dynamic cultures of bone tissue. Brinkman, nutrient transport, and cell growth equations are brought together to quantify the growth behavior of cells. However, when a static culture is being studied, the Brinkman equation is eliminated. The model was validated by experimental cell culture using 3‐(4,5‐dimethylthiazol‐2‐yl)‐2,5‐diphenyltetrazolium bromide assay and scanning electron microscopy. Then, static and dynamic cultures were compared to assess the cell density and cell distribution in the scaffold. Cell counting after 21 days of cell culture showed that the number of cells increased 42‐fold in static and 53.5‐fold in dynamic cultures, which was in good agreement with our model estimations (37‐fold increase in the number of cells in static and 49‐fold increase in dynamic cultures). In conclusion, our mathematical model could predict cell distribution and growth in the scaffold.     

Design and characterization of electrochemical dopamine–aptamer as convenient and integrated sensing platform

Here, an ultrasensitive label-free electrochemical aptasensor was developed for dopamine (DA) detection. Construction of the aptasensor was carried out by electrodeposition of gold–platinum nanoparticles (Au–PtNPs) on glassy carbon (GC) electrode modified with acid-oxidized carbon nanotubes (CNTs–COOH). A designed complementary amine-capped capture probe (ssDNA1) was immobilized at the surface of PtNPs/CNTs–COOH/GC electrode through the covalent amide bonds formed by the carboxyl groups on the nanotubes and the amino groups on the oligonucleotides. DA-specific aptamer was attached onto the electrode surface through hybridization with the ssDNA1. Methylene blue (MB) was used as an electrochemical indicator that was intercalated into the aptamer through the specific interaction with its guanine bases. In the presence of DA, the interaction between aptamer and DA displaced the MB from the electrode surface, rendering a lowered electrochemical signal attributed to a decreased amount of adsorbed MB. This phenomenon can be applied for DA detection. The peak current of probe (MB) linearly decreased over a DA concentration range of 1–30 nM with a detection limit of 0.22 nM.