Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol

Purpose: The gene coding cytochrome P4501B1 (CYP1B1) has been shown to be a major cause of primary congenital glaucoma in the Iranian population. More recently it was shown to also be important in juvenile-onset open angle glaucoma (JOAG). We aimed to further investigate the role of CYP1B1 in a larger cohort of primary open angle glaucoma (POAG) patients which included late-onset patients. We also aimed to set up a microarray based protocol for mutation screening with an intent of using the protocol in a future population level screening program. Methods: Sixty three POAG patients, nine affected family members, and thirty three previously genotyped primary congenital glaucoma (PCG) patients were included in the study. Clinical examination included slit lamp biomicroscopy, IOP measurement, gonioscopic evaluation, fundus examination, and measurement of perimetry. G61E, R368H, R390H, and R469W were screened by a protocol that included multiplexed allele specific amplification in the presence of a protease (PrASE), use of sequence tagged primers, and hybridization to generic arrays on microarray slides. The entire coding sequences of CYP1B1 and myocilin (MYOC) genes were sequenced in all individuals assessed by the microarray assay to carry a mutation. Intragenic single nucleotide polymorphism (SNP) haplotpes were determined for mutated alleles. Results: Genotypes assessed by the array-based PrASE methodology were in 100 concordance with sequencing results. Seven mutation carrying POAG patients (11.1) were identified, and their distribution was quite skewed between the juvenile-onset individuals (5/21) as compared to late-onset cases (2/42). Four of the seven mutation carrying Iranian patients harbored two mutated alleles. CYP1B1 mutated alleles in Iranian PCG and POAG patients shared common haplotypes. MYOC mutations were not observed in any of the patients. Conclusions: The PrASE approach allowed reliable simultaneous genotyping of many individuals. It can be an appropriate tool for screening common mutations in large sample sizes. The results suggest that CYP1B1 is implicated in POAG among Iranians, notably in the juvenile-onset form. Contrary to POAG patients studied in other populations, many mutation harboring Iranian patients carry two mutated alleles. We propose an explanation for this observation. © 2008 Molecular Vision

CuO/Cu2O nanoparticles: A simple and green synthesis, characterization and their electrocatalytic performance toward formaldehyde oxidation

A simple, low cost, stable and sensitive electrochemical sensor based on copper oxide nanoparticles (CuO/Cu2O NPs) was developed for oxidation of formaldehyde. CuO/Cu2O NPs were synthesized with a green and low cost method in the presence of Gum Arabic. During the synthesis process, Gum Arabic acted as a stabilizing agent. The morphology, crystal structure and chemical composition of as-prepared CuO/Cu2O nanostructure were performed through field-emission scanning electron microscopy (FESEM), transmission electron microscopy (TEM), X-ray photoelectron spectroscopy (XPS) and X-ray diffraction techniques. The CuO/Cu2O NPs modified carbon ionic liquid electrode (CuO/Cu2O/CILE) was designed and its catalytic activity was investigated toward formaldehyde oxidation. Compared with bare carbon ionic liquid electrode, the modified electrode exhibited efficient catalysis to direct formaldehyde oxidation. The obtained results show CuO/Cu2O/CILE electrode indicates good electrocatalytic activity toward formaldehyde oxidation with a linear range from 0.1 mmolL−1–110 mmolL−1 and a limit of detection of 10 μmolL−1. Moreover, the prepared electrode exhibited good long term stability and good reproducibility. A simple and green route for synthesis of CuO/Cu2O NPs together with good electrocatalytic activity toward formaldehyde oxidation show that the CuO/Cu2O/CILE is one of the most promising systems for detection of formaldehyde

The study of antifungal activities of magnesium oxide and copper oxide nanoparticles against different species of Aspergillus

Background & Objective: Food can be contaminated with various fungi. The use of nanotechnology, especially metal oxides can reduce this contamination. The aim of this study was to investigate the antifungal effect of magnesium oxide and copper oxide nanoparticles against Aspergillus species that are important in food hygiene. Materials & Methods: Magnesium oxide and copper oxide nanoparticles were synthesized chemically, then their morphology and size were investigated by transmission electron microscopy, scanning electron microscopy, X-ray diffraction and zetasizer. MIC and MFC of these nanoparticles against Aspergillus species were examined individually and in combination with each other by micro dilution method in saboraud dextrose broth and saboraud dextrose agar media and FIC was calculated. Results: The size of nanoparticles was between 10 to 60 nm. They had different forms and high purity. The mean MIC and MFC values of magnesium oxide nanoparticles for the species of A. flavus, A. fumigatus, A. niger and A. parasiticus were 10.1 and 10.31 mg/ml, respectively. These values for copper oxide nanoparticles were 10.25 and 10.08, respectively. Most inhibitory and fungicidal effect of these nanoparticles was on A. niger and A. fumigatus respectively. Since FIC index was greater than 1, there was no interaction. The mean MIC value of the two nanoparticles combination was 9.49 mg/ml. Conclusions: This study showed that each of magnesium oxide or copper oxide nanoparticles as anti-fungal substances could have inhibitory and fungicidal properties individually, but their combination do not have any interacting effect

Evaluation of Receptive and Expressive Vocabulary in 6-18 Month’s-old Children With Cleft Lip and Palate

Objectives: One of the factors predicting language impairments is an early limited lexicon in children. An early limited lexicon can also lead to limited performances in other language areas. This study was aimed to examine receptive and expressive vocabulary in 8-16 month-old children with cleft lip and palate as a predictor of development in other language areas. Materials: The MacArthur-Bates Communicative Development Inventory (CDI) was used to collect data. Thirty children with cleft palate/lip and palate who had visited the Isfahan’s cleft lip and palate team were analyzed and compared to 30 children without cleft lip and palate. Results: According to the study results, there was no significant difference between the children with cleft lip and palate and the normal children in terms of the number of words, but the children with cleft lip and palate had significantly less expressive vocabulary than the normal children. Discussion: The results indicated that children with cleft lip and palate experience a delay in the development of the number of expressive vocabulary, and this delay affects higher levels of language, reading and writing skills of these children. This indicates the importance of providing early evaluations and interventions for children with cleft lip and palate

Evaluation of Receptive and Expressive Vocabulary in 6-18 Month's-old Children With Cleft Lip and Palate A B S T R A C T

Objectives: One of the factors predicting language impairments is an early limited lexicon in children. An early limited lexicon can also lead to limited performances in other language areas. This study was aimed to examine receptive and expressive vocabulary in 8-16 monthold children with cleft lip and palate as a predictor of development in other language areas. Materials: The MacArthur-Bates Communicative Development Inventory (CDI) was used to collect data. Thirty children with cleft palate/lip and palate who had visited the Isfahan's cleft lip and palate team were analyzed and compared to 30 children without cleft lip and palate. Results: According to the study results, there was no significant difference between the children with cleft lip and palate and the normal children in terms of the number of words, but the children with cleft lip and palate had significantly less expressive vocabulary than the normal children. Discussion: The results indicated that children with cleft lip and palate experience a delay in the development of the number of expressive vocabulary, and this delay affects higher levels of language, reading and writing skills of these children. This indicates the importance of providing early evaluations and interventions for children with cleft lip and palate

A case of pituitary gland abscess associated with granulomatous hypophysitis

Abstract Background Granulomatous hypophysitis is a rare disease that presents with chronic inflammation of the pituitary gland. In this study, we reported a case of granulomatous hypophysitis associated with a pituitary abscess. Case presentation A 39-year-old woman presented with a 2-year history of infertility. For the past six months, she has suffered from amenorrhea, decreased libido, headaches, and vertigo. She was referred to our hospital with a suspected diagnosis of nonfunctioning pituitary adenoma based on her presentation and brain MRI findings. She underwent trans-sphenoidal surgery (TSS). Direct observation during surgery revealed drainage of malodor pus and pituitary gland abscess. The histopathological evaluation also showed granulomatous hypophysitis and neutrophilic microabscess formation. The patient was initially treated with high doses of ceftriaxone (2 g twice daily) and metronidazole (500 mg (mg) four times per day). Also, the patient received cortisol replacement therapy after the operation. After obtaining the antibiogram and culture results, the treatment regimen was continued for 4 weeks postoperatively, followed by amoxicillin-clavulanate (500/125 mg three times daily) for a total duration of 12 weeks. Conclusion The patient recovered uneventfully and the postoperative MRI was normal without any remnant lesions