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Determination of buildup factors for some human tissues using both MCNP5 and Phy-X / PSD
Alda'ajeh Mohammad M.,Sharaf J.M.,Saleh H.H.,Hamideen Mefleh S. 한국원자력학회 2023 Nuclear Engineering and Technology Vol.55 No.12
In this article, Exposure Buildup Factor(EBF) and the Energy Absorption Buildup Factor(EABF) have been determined for blood, brain, and muscle using the Monte Carlo method which is represented by MCNP5 codes and compared with geometric progression(G-P) fitting method which is represented by Phy-X/PSD online platform. The novelty of the present work is used an energy source of less than 0.1 MeV to determine buildup factors using MCNP5 and using Phy-X/PSD for some human tissues. thus, the energy range used in this case study was 0.06–3 MeV for penetration depths covered 0.5–3 MFP. Results of MCNP5 and Phy-X/PSD are validated against reference values of water that were reported at ANS-6.4.3. present results of EABFs and EBFs for the previously mentioned human tissues appeared good agreement between MCNP5 in comparison with Phy-X/PSD, whereas, the maximum average relative deviation did not exceed 2.37%. results of our article can be used in different medical applications, such as brachytherapy, radiotherapy, and diagnostics
Francesco Calì,Alda Ragalmuto,Valeria Chiavetta,Giuseppe Calabrese,Marco Fichera,Mirella Vinci,Giuseppa Ruggeri,Pietro Schinocca,Maurizio Sturnio,Salvatore Romano,IRCCS Oasi Maria SS,Valentino Romano 생화학분자생물학회 2010 Experimental and molecular medicine Vol.42 No.12
Angelman syndrome (AS) is a severe neurobehavioural disorder caused by failure of expression of the maternal copy of the imprinted domain located on 15q11-q13. There are different mechanisms leading to AS: maternal microdeletion, uniparental disomy, defects in a putative imprinting centre, mutations of the E3 ubiquitin protein ligase (UBE3A) gene. However,some of suspected cases of AS are still scored negative to all the latter mutations. Recently, it has been shown that a proportion of negative cases bear large deletions overlapping one or more exons of the UBE3A gene. These deletions are difficult to detect by conventional gene-scanning methods due to the masking effect by the non-deleted allele. In this study, we have used for the first time multiplex ligation-dependent probe amplification (MLPA) and comparative multiplex dosage analysis (CMDA) to search for large deletions affecting the UBE3A gene. Using this approach, we identified a novel causative deletion involving exon 8 in an affected sibling. Based on our results, we propose the use of MLPA as a fast, accurate and inexpensive test to detect large deletions in the UBE3A gene in a small but significant percentage of AS patients.
Cali, Francesco,Ragalmuto, Alda,Chiavetta, Valeria,Calabrese, Giuseppe,Fichera, Marco,Vinci, Mirella,Ruggeri, Giuseppa,Schinocca, Pietro,Sturnio, Maurizio,Romano, Salvatore,Romano, Valentino,Elia, Mau Korean Society for Biochemistry and Molecular Bion 2010 Experimental and molecular medicine Vol.42 No.12
Angelman syndrome (AS) is a severe neurobehavioural disorder caused by failure of expression of the maternal copy of the imprinted domain located on 15q11-q13. There are different mechanisms leading to AS: maternal microdeletion, uniparental disomy, defects in a putative imprinting centre, mutations of the E3 ubiquitin protein ligase (UBE3A) gene. However, some of suspected cases of AS are still scored negative to all the latter mutations. Recently, it has been shown that a proportion of negative cases bear large deletions overlapping one or more exons of the UBE3A gene. These deletions are difficult to detect by conventional gene-scanning methods due to the masking effect by the non-deleted allele. In this study, we have used for the first time multiplex ligation-dependent probe amplification (MLPA) and comparative multiplex dosage analysis (CMDA) to search for large deletions affecting the UBE3A gene. Using this approach, we identified a novel causative deletion involving exon 8 in an affected sibling. Based on our results, we propose the use of MLPA as a fast, accurate and inexpensive test to detect large deletions in the UBE3A gene in a small but significant percentage of AS patients.
Poster Session:PS 0572 ; Oncology : Lung Cancer with Revealing Skin Metastasis
( Miguel Arderius ),( Nayive Gomez ),( David Fortes ),( Alda Jordao ),( Gloria Silva ) 대한내과학회 2014 대한내과학회 추계학술대회 Vol.2014 No.1
Introduction: Skin metastization is an uncommon manifestation of carcinomas (3-4% incidence in some series). Lung origin is more common in men (24 versus 4% in women, in recent meta-analysis), being the fi rst manifestation in 0.8% of cases. It appears in advanced stage and has poor prognosis. Case Presentation: 78 year old man, smoker, went to the ER because of the appearance, in the last 3 months, of 2 cutaneous nodules in the thorax, with progressive enlargement and infi ammatory signs. Concomitantly, he showed asthenia, adynamia, anorexia, exertional dyspnea and weight loss (10kg), symptoms the patient didn`t quite value, showing a very good Performance Status (Karnofsky scoring 70%). In observation, 2 solid subcutaneous nodules (3cm), parasternal, violaceous, ulcerated, non adherent, painful; and 2 similar nodules, smaller and non ulcerated, palpable in the inguinal regions. In the thorax radiography, peribronchial mass on the right, with irregular contour. Thoraco-abdomino-pelvic CT showed a perihilar mass (8cm) in the right lung, obliterating the anterior segment of the superior lobe; pulmonary artery compression; mediastinal pleura invasion; multiple adenomegalies; adrenal gland metastization; and subcutaneous masses in the anterior thoracic wall, abdominal wall and gluteal region. Analytically, elevated NSE (142μg/L). Bronchofi broscopy revealed complete bronchial obstruction, with the biopsy confi rming a Small Cell Carcinoma. The biopsies from the skin lesions had a mixed pattern (Combined Small Cell and Large Cell Neuroendocrine Carcinoma). He was discharged to Pneumological Oncology, where he started chemotherapy. Conclusion: Despite the fact that skin metastasis are rare, it`s timely recognition may be critical to the prognosis. The Internist should therefore be aware of its existence. In this case, the patient kept a good performance status despite the advanced disease.
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics
Francesco Calì,Giuseppa Ruggeri,Mirella Vinci,Concetta Meli,Carla Carducci,Vincenzo Leuzzi,Simone Pozzessere,Pietro Schinocca,Alda Ragalmuto,Valeria Chiavetta,Salvatore Miccichè,Valentino Romano 생화학분자생물학회 2010 Experimental and molecular medicine Vol.42 No.2
A consistent finding of many studies describing the spectrum of mutant phenylalanine hydroxylase (PAH)alleles underlying hyperphenylalaninemia is the impossibility of achieving a 100% mutation ascertainment rate using conventional gene-scanning methods. These methods include denaturing gradient gel electrophoresis (DGGE), denaturing high performance liquid chromatography (DHPLC), and direct sequencing. In recent years, it has been shown that a significant proportion of undetermined alleles consist of large deletions overlapping one or more exons. These deletions have been difficult to detect in compound heterozygotes using gene-scanning methods due to a masking effect of the non-deleted allele. To date, no systematic search has been carried out for such exon deletions in Italian patients with phenylketonuria or mild hyperphenylalaninemia. We used multiplex ligation-dependent probe amplification (MLPA), comparative multiplex dosage analysis (CMDA), and real-time PCR to search for both large deletions and duplications of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemia patients. Four deletions removing different phenylalanine hydroxylase (PAH) gene exons were identified in 12 patients. Two of these deletions involving exons 4-5-6-7-8(systematic name c.353-?_912 + ?del) and exon 6(systematic name c.510-?_706 + ?del) have not been reported previously. In this study, we show that exon deletion of the PAH gene accounts for 1.7% of all mutant PAH alleles in Italian hyperphenylalaninemics.