• Title/Summary/Keyword: Genetic evaluation

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Evaluation of Methylobacterium radiotolerance and Sphyngomonas yanoikoaie in Sentinel Lymph Nodes of Breast Cancer Cases

  • Yazdi, Hamid Reza;Movafagh, Abolfazl;Fallah, Fateme;Shargh, Shohreh Alizadeh;Mansouri, Neda;Pour, Atefeh Heidary;Hashemi, Mehrdad
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.sup3
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    • pp.279-285
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    • 2016
  • It has been established that different kinds of bacteria agents are involved in various cancers. Although the mechanism of tumorigenesis is not clearly understood, there is evidence for the presence of bacteria within tumors, with at least a progression effect for some bacteria that prepare suitable microenvironments for tumor cell growth. The aim of current study was to evaluate bacterial dysbiosis in sentinel lymph nodes of breast cancer patients. One hundred and twenty three fresh-frozen sentinel lymph nodes and a corresponding number of normal adjacent breast tissue specimens and five normal mastectomy samples were investigated employing RT-PCR. In addition using genus-specific primers were applied. There was a significant differences as presence of Methylobacterium radiotolerance DNA recorded between patients and normal control group (p= 0.0). Based on our research work, further studies into the role of microbes in breast cancer would be of great interest.

YIELD AND DIGESTIBILITY OF FORAGES IN EAST INDONESIA II. GRASSES

  • Bulo, D.;Blair, G.J.;Till, A.R.;Stur, W.
    • Asian-Australasian Journal of Animal Sciences
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    • v.7 no.3
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    • pp.335-342
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    • 1994
  • This study was undertaken at Gowa, South Sulawesi, Indonesia, as part of a larger forage genetic resource evaluation project. The experimental program consisted of a field experiment where grass and legume species were grown in monocultures and the dry matter yield, rumen bag digestibility (RBDMD) and N content of leaf and stem components were monitored in the wet and dry seasons. Eight species of grass (Brachiaria decwnbens cv. Basilisk. Panicum maximum cv. Riversdale, Urochloa pullulans CPI 41192, Imperata cylindrica from Maiwa, South Sulawesi, Digitaria milanjiana CPI 41193, Cenchrus ciliaris cv. Malopo, Heteropogon contorlus and Setaria sphacelata cv. Splenda) were studied. P. maximum was the highest yielding grass in the wet season and B. decumbens in the dry season. The highest RBDMD in the whole plants were U. pulluians, P. maximum, S. sphacelata and D. milanjiana after 2 weeks regrowth in cycle I and S. sphacelata, B. decumbens, D. milanjiana and C. ciliaris in cycle 2. When total digestible DM was calculated for the whole of cycle I, P. maximum, B. decumbens and S. sphacelata were superior, but B. decumbens produced over twice as much as the other species in the dry season (cycle 2). The leaf N concentration of all grasses exceeded 1.0% (6.25% crude protein) in the regrowth in cycle I but did not exceed 0.5% in the dry season regrowth (cycle 2).

Evaluation of Quality of Life of Breast Cancer Patient Next-of-kin in Turkey

  • Ogce, Filiz;Ozkan, Sevgi;Okcin, Figen;Yaren, Arzu;Demiray, Gokcen
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.5
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    • pp.2771-2776
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    • 2013
  • Introduction: Quality of life (QoL) issues are of importance in relatives of women with breast cancer (BC)as caregivers in neglecting their own needs due to care of a patient and also as women regarding the potential risk of themselves developing BC. The objectives in the present study were to compare the QoL of female relatives of women in treatment for breast cancer. To date, no study had examined multi-dimensional QoL in accompanying people as compared them into two groups of female relatives whose first degree and second degree. Methods: QoL of female relatives was assessed using the Quality of Life-Family Version (QOL-FV) scale. Relationships between socio-demographic characteristics and QoL scores were analyzed using the Mann-Whitney U, Kruskal Wallis and Crosstabs tests. Results: The mean age of the female relatives was 37.6 years, and nearly 48% had a university education. It was found that first degree relatives had worse QoL in all domains except physical wellbeing than second degree relatives. Conclusion: This study showed that being female relatives of BC, especially first-degree, affect QoL negatively. Health care providers are of an important role in the stage of information related to genetic influence of BC.

Long-term clinical course of a patient with mucopolysaccharidosis type IIIB

  • Kim, Ja Hye;Chi, Yang Hyun;Kim, Gu-Hwan;Yoo, Han-Wook;Lee, Jun Hwa
    • Clinical and Experimental Pediatrics
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    • v.59 no.sup1
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    • pp.37-40
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    • 2016
  • Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation, and severe disability from the age of 2 to 6 years. We report a patient with MPS IIIB with a long-term follow-up duration. He showed normal development until 3 years. Subsequently, he presented behavioral changes, sleep disturbance, and progressive motor dysfunction. He had been hospitalized owing to recurrent pneumonia and epilepsy with severe cognitive dysfunction. The patient had compound heterozygous c.1444C>T (p.R482W) and c.1675G>T (p.D559Y) variants of NAGLU. Considering that individuals with MPS IIIB have less prominent facial features and skeletal changes, evaluation of long-term clinical course is important for diagnosis. Although no effective therapies for MPS IIIB have been developed yet, early and accurate diagnosis can provide important information for family planning in families at risk of the disorder.

EVALUATION OF SEX CHROMATIN OF CALF'S NEUTROPHILS AS A DIAGNOSTIC TOOL FOR BOVINE FREEMARTINISM AT THEIR EARLY LIFE

  • Sekine, J.;Tamura, S.;Teraishi, T.;Oura, R.
    • Asian-Australasian Journal of Animal Sciences
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    • v.5 no.1
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    • pp.45-49
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    • 1992
  • Bovine drumstick of neutrophil leucocytes was studied on the quantitative and morphological characteristics and was evaluated as a diagnostic measure for bovine freemartin in newborn calves. Nuclear area of neutrophil (A, ${\mu}m^2$) and drumstick area (B, ${\mu}m^2$) were significantly correlated with average diameter of drumstick (ADD, ${\mu}m$) and following regression equations were obtained : $A=45({\pm}3)$ ADD-8, r = 0.74, $s.e.{\pm}0.6$, p < 0.01, $B=1.72({\pm}0.05)$ ADD-0.98, r = 0.93, $s.e.{\pm}0.1$, p < 0.01 Eight female siblings of heterosexual multiplets were diagnosed as freemartin from the results of chromosome analysis. Heterosexual multiplets had a very low frequency of drumstick in the nucleus of neutrophils irrespective of genetic sex. Diameters of drumstick fund in freemartin and male cotwin did not differ from those of normal cows. Examinations of drumstick in 800 neutrophils for both female and male siblings are concluded to be the best way to aid the detection of freemartinism of heterosexual twins at early life.

Molecular Genetics and Diagnostic Approach of Mucolipidosis II/III

  • Sohn, Young Bae
    • Journal of mucopolysaccharidosis and rare diseases
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    • v.2 no.1
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    • pp.13-16
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    • 2016
  • Mucolipidosis (ML) II/III are autosomal recessive diseases caused by deficiency of post-translational modification of lysosomal enzymes. The mannose-6-phosphate (M6P) residue in lysosomal enzymes synthesized by N-acetylglucosamine 1-phosphotransferase (GlcNAc-phosphotransferase) serves as recognition marker for trafficking in lysosomes. GlcNAc-phosphotransferase is encoded by GNPTAB and GNPTG. Mutations in GNPTAB cause severe ML II alpha/beta and the attenuated ML III alpha/beta. Whereas mutations in GNPTG cause the ML III gamma, the attenuated type of ML III variant. For the diagnostic approaches, increased urinary oligosaccharides excretion could be a screening test in clinically suspicious patients. To confirm the diagnosis, instead of measuring the activity of GlcNAc phosphotransferase, measuring the enzymatic activities of different lysosomal hydrolases are useful for diagnosis. The activities of several lysosomal hydrolases are decreased in fibroblasts but increased in serum of the patients. In addition, the sequence analysis of causative gene is warranted. Therefore, the confirmatory diagnosis requires a combination of clinical evaluation, biochemical and molecular genetic testing. ML II/III show complex disease manifestations with lysosomal storage as the prime cellular defect that initiates consequential organic dysfunctions. As there are no specific therapy for ML to date, understanding the molecular pathogenesis can contribute to develop new therapeutic approaches ultimately.

Febrile seizures

  • Chung, Sajun
    • Clinical and Experimental Pediatrics
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    • v.57 no.9
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    • pp.384-395
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    • 2014
  • Febrile seizure (FS) is the most common seizure disorder of childhood, and occurs in an age-related manner. FS are classified into simple and complex. FS has a multifactorial inheritance, suggesting that both genetic and environmental factors are causative. Various animal models have elucidated the pathophysiological mechanisms of FS. Risk factors for a first FS are a family history of the disorder and a developmental delay. Risk factors for recurrent FS are a family history, age below 18 months at seizure onset, maximum temperature, and duration of fever. Risk factors for subsequent development of epilepsy are neurodevelopmental abnormality and complex FS. Clinicians evaluating children after a simple FS should concentrate on identifying the cause of the child's fever. Meningitis should be considered in the differential diagnosis for any febrile child. A simple FS does not usually require further evaluation such as ordering electroencephalography, neuroimaging, or other studies. Treatment is acute rescue therapy for prolonged FS. Antipyretics are not proven to reduce the recurrence risk for FS. Some evidence shows that both intermittent therapy with oral/rectal diazepam and continuous prophylaxis with oral phenobarbital or valproate are effective in reducing the risk of recurrence, but there is no evidence that these medications reduce the risk of subsequent epilepsy. Vaccine-induced FS is a rare event that does not lead to deleterious outcomes, but could affect patient and physician attitudes toward the safety of vaccination.

Design and Evaluation of a Rotation Table using Air Bearings for Electron Beam Mastering (전자빔 마스터링을 위한 공기베어링 응용 고진공 회전테이블의 설계 및 진공특성 평가)

  • Khim, Gyung-Ho;Song, Chang-Kyu;Park, Chun-Hong
    • Journal of the Korean Society for Precision Engineering
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    • v.25 no.12
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    • pp.132-138
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    • 2008
  • Recently, mastering processes for high density optical disc such as Blu-ray disc rely on electron beams, which are operable in only vacuum. In the mastering process, one of the most important tasks is to design precision stages for providing precise positioning of the works with respect to the source in a high vacuum environment. In this paper, we have developed a precision rotation table usable in the electron beam mastering. The rotation table adopted air bearings for a high positioning repeatability and velocity stability. The air leakage from the air bearings has been minimized by employing the differential exhaust scheme using three steps of air drain. The design parameters such as diameters of exhaust lines, seal lengths, and pumping speeds were decided according to the optimization method using genetic algorithm. The performance on the vacuum level of the rotation table was evaluated experimentally and theoretically. The results indicate that a vacuum level of $10^{-4}$ Pa is achieved with operation of air bearings in a vacuum chamber, which is sufficient for the electron beam mastering.

Optimal Placement of Strain Gauge for Vibration Measurement : Formulation and Assessment (진동측정을 위한 스트레인 게이지 설치위치 최적화 : 최적화 방법 및 평가)

  • 최창림;양보석;최병근
    • Transactions of the Korean Society for Noise and Vibration Engineering
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    • v.14 no.8
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    • pp.757-766
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    • 2004
  • This paper focuses on the formulation and validation of an automatic strategy to select the optimal location and direction of strain gauges for the measurement of the modal response. These locations and directions are important to render the strain measurements as robust as possible when a random mispositioning of the gauges and gauge failures are expected. The approach relies on the evaluation of the signal-to-noise ratios of the gauge measurements from strain data of finite element. The multi-step optimization strategy including genetic algorithm is used to find the strain gauge locations-directions that maximize the smallest modal strain signal-to-noise ratio in the absence of gauge failure or its expected value when gauge failure is possible. A flat Plate is used to prove the applicability of the proposed methodology and to demonstrate the effects of the essential parameters of the problem such as the mispositioning level, the probability of gauge failure, and the number of gauges.