170 research outputs found

    Local field enhancement of nano-structured metallic target irradiated by polarized laser beam

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    The local field enhancement is studied numerically in samples of metallic nanoparticles (NPs) randomly distributed over a metallic substrate. The sample was assumed to be irradiated by polarized laser beam. Based on dipole-dipole approximation (DDA), the electric field was calculated Two-dimensionally at the irradiated region. The results show that the optimized field enhancement is strongly depends on NPs characteristics, beam polarization and incident angle

    Mutation Analysis of the CYP21A2 Gene in the Iranian Population

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    Background: Defects in the CYP21A2 gene cause steroid 21-hydroxylase deficiency, which is the most frequent cause of congenital adrenal hyperplasia. Forty four affected families were investigated to identify the mutation spectrum of the CYP21A2 gene. Methods: Families were subjected to clinical, biochemical, and molecular analyses. Allele-specific polymerase chain reaction amplification was used for eight common mutations followed by dosage analysis to exclude CYP21A2 deletions. Results: The most frequent mutations detected were gene deletions and chimera (31.8). Other mutation frequencies were as follows: Q318X, 15.9; I2G, 14.8; I172N, 5.8; gene duplication, 5.7; R356W, 8; and E6 cluster mutations, 2.3. Direct sequencing of the CYP21A2 gene revealed R316X, P453S, c.484insT, and a change at the start codon. Different modules carried by patients were classified into five different haplotypes. The genotype phenotype correlation (positive predictive value) for group null, A, B, and C were 92.3, 85.7, 100, and 0, respectively. Conclusions: Methods used will be helpful for carrier detection and antenatal diagnosis, especially with inclusion of the multiplex ligation probe dependent amplification technique, which is easier for routine tests in comparison with other methods. Mutation frequencies indicate that Iranians are possible descendants of Asians and Europeans

    Mosaic trisomy 22 in a 4-year-old boy with congenital heart disease and general hypotrophy: A case report

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    Background: Trisomy 22 mosaicism is a rare autosomal anomaly with survival compatibility. Recognition of the complete trisomy 22 which is incompatible with life from the mosaic form is critical for genetic counseling. Affected mosaic cases have prevalent clinical presentations such as webbed neck, developmental delay, abnormal ears, cardiac disorders, and microcephaly. Phenotype of these patients is milder than full chromosomal aneuploidy, and the severity of the phenotype depends on the count of trisomic cells. We describe a 4-year-old boy with mosaic trisomy 22 from healthy parents and no family history of any genetic disorders in the pedigree. Method and Results: The patient had determined dysmorphic clinical features including facial asymmetry, cleft palate, gastroenteritis, hydronephrosis, developmental delay, genital anomalies, dysplastic toenails, flattened nasal bridge, congenital heart defect, hearing loss, cryptorchidism, and hypotonic muscle. He is the first reported with hypothyroidism and larynx wall thickness in worldwide and the first with atrial septal defect (ASD) from Iran. Chromosomal analyses using G-banding indicated a de novo Mos 47,XY,+22(6)/46,XY(44) karyotype with no other chromosomal structural changes. Conclusions: Our observations confirm the importance of cytogenetic analyses for determining the cause of congenital anomalies and provide a useful genetic counseling. In addition, due to the fact that some of mosaic trisomy 22 features are unavoidable such as CHD and general hypotrophy, we suggest including echocardiography test for early diagnosis during the clinical assessment. © 2018 Wiley Periodicals, Inc

    Seizure as the early and main manifestation of infantile vanishing white matter disease: A case report

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    Introduction: Vanishing white matter disease (VWM) is considered as one of the most frequent types of inherited childhood leukoencephalopathies. Various neurological and non-neurological manifestations have been reported in this type of leukodystrophy; however, seizures are rarely described in infantile type of VWM. Case Presentation: To patient is a 12 months old boy who experienced frequent seizures at 4th month of age. The seizures were resistant to anti-epileptic drugs and caused 3 periods of hospitalization. Magnetic resonance imaging (MRI) demonstrated demyeli-nating pattern and whole exome sequencing (WES) reported homozygous mutation (c.922G > A) in EIF2B2 gene in exon 8 leading to an amino-acid substitution (p.Val308Met). Conclusions: Infantile onset of vanishing white matter disease can be considered as one of few childhood leukodystrophies that are associated with early onset seizures. © 2018, Iranian Journal of Pediatrics

    Effects of different diets on growth, survival and body composition of Rutilis frisii kutum larvae

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    The main objective of this study was to investigate the effect of different diets on Caspian kutum larval growth, survival and body composition, thus the Caspian kutum was examined in diets, Starved (S), Egg yolk (E), Artemia nauplii (A) and Artemia nauplii plus egg yolk (A+E). Totally four dietary treatments were tested in triplicate for 30 days. A significant growth difference between fry fed was observed in Artemia plus egg yolk (p<0.05). Final mean lengths and weights for each treatment (S, A, E, A+E), respectively were 7.0±0.07, 26±0.91, 23.5±0.91, 28.6±0.18 mm (Mean±SE, n = 12) and 4.9±0.08, 57±2.14, 51±2.18, 74±3.64 mg (Mean±SE, n = 12). The larvae accumulated increasing protein in Treatment A+E and lipid in treatment E (p<0.05). Also, the highest survival rate, 70.9±2.1%was in the treatment A+E and was significantly higher compared to 59.5±1.45% and 56.6±0.98%and in the other group (p<0.05). During culture period some other factors such as DGC (Daily Growth Coefficient), DWG (Daily Weight Gain), DLG (Daily Length Gain) and SGR (Specific Growth factor Rate) were measured. The obtained result showed that diet Artemia plus egg yolk is promising for use in Caspian kutum culture for in early stages of life cycle

    Correction to: Clopidogrel Pharmacogenetics in Iranian Patients Undergoing Percutaneous Coronary Intervention (Cardiovascular Toxicology, (2018), 10.1007/s12012-018-9459-x)

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    The original version of this article unfortunately contained a typo in the co-author name. © 2018, Springer Science+Business Media, LLC, part of Springer Nature

    Bio-nanotechnology application in wastewater treatment

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    The nanoparticles have received high interest in the field of medicine and water purification, however, the nanomaterials produced by chemical and physical methods are considered hazardous, expensive, and leave behind harmful substances to the environment. This chapter aimed to focus on green-synthesized nanoparticles and their medical applications. Moreover, the chapter highlighted the applicability of the metallic nanoparticles (MNPs) in the inactivation of microbial cells due to their high surface and small particle size. Modifying nanomaterials produced by green-methods is safe, inexpensive, and easy. Therefore, the control and modification of nanoparticles and their properties were also discussed

    A novel flexible model for lot sizing and scheduling with non-triangular, period overlapping and carryover setups in different machine configurations

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    © 2017, Springer Science+Business Media New York. This paper develops and tests an efficient mixed integer programming model for capacitated lot sizing and scheduling with non-triangular and sequence-dependent setup times and costs incorporating all necessary features of setup carryover and overlapping on different machine configurations. The model’s formulation is based on the asymmetric travelling salesman problem and allows multiple lots of a product within a period. The model conserves the setup state when no product is being processed over successive periods, allows starting a setup in a period and ending it in the next period, permits ending a setup in a period and starting production in the next period(s), and enforces a minimum lot size over multiple periods. This new comprehensive model thus relaxes all limitations of physical separation between the periods. The model is first developed for a single machine and then extended to other machine configurations, including parallel machines and flexible flow lines. Computational tests demonstrate the flexibility and comprehensiveness of the proposed models

    GJB2 mutations: Passage through Iran

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    Hereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding. Interestingly and unexpectedly, in spite of extreme heterogeneity, mutations in one gene, GJB2, are the most common cause of congenital severe-to-profound deafness in many different populations. In this study, we assessed the contributions made by GJB2 mutations and chromosome 13 g.17771792085947del (the deletion more commonly known as del (GJB6-D13S1830) that includes a portion of GJB6 and is hereafter called �(GJB6-D13S1830)) to the autosomal recessive non-syndromic deafness (ARNSD) genetic load in Iran. Probands from 664 different nuclear families were investigated. GJB2-related deafness was found in 111 families (16.7). The carrier frequency of the 35delG mutation showed a geographic variation that is supported by studies in neighboring countries. �(GJB6-B13S1830) was not found. Our prevalence data for GJB2-related deafness reveal a geographic pattern that mirrors the south-to-north European gradient and supports a founder effect in southeastern Europe. © 2005 Wiley-Liss, Inc

    Quantitative Proteomic Analysis of Human Embryonic Stem Cell Differentiation by 8-Plex iTRAQ Labelling

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    Analysis of gene expression to define molecular mechanisms and pathways involved in human embryonic stem cells (hESCs) proliferation and differentiations has allowed for further deciphering of the self-renewal and pluripotency characteristics of hESC. Proteins associated with hESCs were discovered through isobaric tags for relative and absolute quantification (iTRAQ). Undifferentiated hESCs and hESCs in different stages of spontaneous differentiation by embryoid body (EB) formation were analyzed. Using the iTRAQ approach, we identified 156 differentially expressed proteins involved in cell proliferation, apoptosis, transcription, translation, mRNA processing, and protein synthesis. Proteins involved in nucleic acid binding, protein synthesis, and integrin signaling were downregulated during differentiation, whereas cytoskeleton proteins were upregulated. The present findings added insight to our understanding of the mechanisms involved in hESC proliferation and differentiation
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