• Title/Summary/Keyword: Molecular medicine

Search Result 6,762, Processing Time 0.033 seconds

Burnout and Workload Among Health Care Workers: The Moderating Role of Job Control

  • Portoghese, Igor;Galletta, Maura;Coppola, Rosa Cristina;Finco, Gabriele;Campagna, Marcello
    • Safety and Health at Work
    • /
    • v.5 no.3
    • /
    • pp.152-157
    • /
    • 2014
  • Background: As health care workers face a wide range of psychosocial stressors, they are at a high risk of developing burnout syndrome, which in turn may affect hospital outcomes such as the quality and safety of provided care. The purpose of the present study was to investigate the moderating effect of job control on the relationship between workload and burnout. Methods: A total of 352 hospital workers from five Italian public hospitals completed a self-administered questionnaire that was used to measure exhaustion, cynicism, job control, and workload. Data were collected in 2013. Results: In contrast to previous studies, the results of this study supported the moderation effect of job control on the relationship between workload and exhaustion. Furthermore, the results found support for the sequential link from exhaustion to cynicism. Conclusion: This study showed the importance for hospital managers to carry out management practices that promote job control and provide employees with job resources, in order to reduce the burnout risk.

Methylene Tetrahydrofolate Reductase C677T Mutation and Left Ventricular Hypertrophy in Turkish Patients with Type II Diabetes Mellitus

  • Yilmaz, Hulya;Agachan, Bedia;Ergen, Arzu;Karaalib, Zeynep Ermis;Isbir, Turgay
    • BMB Reports
    • /
    • v.37 no.2
    • /
    • pp.234-238
    • /
    • 2004
  • This study was designed to investigate, in the Turkish population, the association of methylene tetrahydrofolate reductase (MTHFR) C677T polymorphism and left ventricular hypertrophy (LVH) in patients with type II diabetes mellitus. Our study included 249 patients with type II diabetes mellitus (102 men, 147 women) and 214 healthy volunteers as controls (91 men, 123 women). MTHFR C677T genotypes were determined by polymerase chain reaction, restriction fragment length polymorphism techniques. No differences were observed in the distribution of MTHFR genotypes or allele frequencies in the cases versus the controls. The frequency of the MTHFR-mutated allele (T) was 31.7% in the type II diabetes mellitus versus 31.1% of the controls. The homozygous mutation (T/T) in the MTHFR gene was identified in 12% of the type II diabetes mellitus versus 9.3% of the controls. Patients with the TT genotype showed a higher prevalence of LVH when compared to patients with the CC and CT genotypes (p = 0.01). The MTHFR gene C677T mutation may be a possible risk factor for the development of LVH in the type II diabetic patients.

Clinical Implementation of Precision Medicine in Gastric Cancer

  • Jeon, Jaewook;Cheong, Jae-Ho
    • Journal of Gastric Cancer
    • /
    • v.19 no.3
    • /
    • pp.235-253
    • /
    • 2019
  • Gastric cancer (GC) is one of the deadliest malignancies in the world. Currently, clinical treatment decisions are mostly made based on the extent of the tumor and its anatomy, such as tumor-node-metastasis staging. Recent advances in genome-wide molecular technology have enabled delineation of the molecular characteristics of GC. Based on this, efforts have been made to classify GC into molecular subtypes with distinct prognosis and therapeutic response. Simplified algorithms based on protein and RNA expressions have been proposed to reproduce the GC classification in the clinical field. Furthermore, a recent study established a single patient classifier (SPC) predicting the prognosis and chemotherapy response of resectable GC patients based on a 4-gene real-time polymerase chain reaction assay. GC patient stratification according to SPC will enable personalized therapeutic strategies in adjuvant settings. At the same time, patient-derived xenografts and patient-derived organoids are now emerging as novel preclinical models for the treatment of GC. These models recapitulate the complex features of the primary tumor, which is expected to facilitate both drug development and clinical therapeutic decision making. An integrated approach applying molecular patient stratification and patient-derived models in the clinical realm is considered a turning point in precision medicine in GC.

Neonatal Silver-Russell syndrome assumed to result from maternal uniparental heterodisomy of chromosome 7

  • Kang, Yoongu;Kim, Jinsup;Lee, Hyun Ju;Park, Hyun Kyung
    • Journal of Genetic Medicine
    • /
    • v.17 no.2
    • /
    • pp.83-88
    • /
    • 2020
  • Silver-Russell syndrome (SRS) is a rare genetic disorder characterized by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, a triangular face, body asymmetry, and feeding difficulties. It is primarily diagnosed according to a clinical scoring system; however, the clinical diagnosis is confirmed with molecular testing, and the disease is stratified into the specific molecular subtypes. SRS is a genetically heterogeneous condition. The major molecular changes are hypomethylation of imprinting control region 1 in 11p15.5 and maternal uniparental disomy of chromosome 7 (UPD(7)mat). Therefore, first-line molecular testing should include methylation-specific approaches for these regions. Here, we report an extremely low birth weight (ELBW) infant with intrauterine growth retardation, postnatal growth retardation, and dysmorphic facial appearance-characteristics consistent with the clinical diagnostic criteria of SRS. Methylation-specific molecular genetic analysis revealed UPD(7)mat, while the loss of heterozygosity was not detected on chromosomal microarray analysis. We present a case of SRS with suspected uniparental heterodisomy of chromosome 7 in an ELBW infant.

Noninvasive prenatal test for fetal chromosomal aneuploidies by massively parallel sequencing of cell-free fetal DNA in maternal plasma: The first clinical experience in Korea

  • Han, Sung-Hee;Yang, Young-Ho;Ryu, Jae-Song;Kang, Myung-Soo;Kim, Young-Jin;Lee, Kyoung-Ryul
    • Journal of Genetic Medicine
    • /
    • v.12 no.2
    • /
    • pp.85-91
    • /
    • 2015
  • Purpose: Noninvasive prenatal test (NIPT) by massively parallel sequencing (MPS) of cell-free fetal DNA in maternal plasma marks a significant advancement in prenatal screening, minimizing the need for invasive testing of fetal chromosomal aneuploidies. Here, we report the initial clinical performance of NIPT in Korean pregnant women. Materials and Methods: MPS-based NIPT was performed on 910 cases; 5 mL blood samples were collected and sequenced in the Shenzhen BGI Genomic Laboratory to identify aneuploidies. The risk of fetal aneuploidy was determined by L-score and t-score, and classified as high or low. The NIPT results were validated by karyotyping for the high-risk cases and neonatal follow-up for low-risk cases. Results: NIPT was mainly requested for two clinical indications: abnormal biochemical serum-screening result (54.3%) and advanced maternal age (31.4%). Among 494 cases with abnormal biochemical serum-screening results, NIPT detected only 9 (1.8%) high-risk cases. Sixteen cases (1.8%) of 910 had a high risk for aneuploidy: 8 for trisomy 21, 2 for trisomy 18, 1 for trisomy 13, and 5 for sex chromosome abnormalities. Amniocentesis was performed for 7 of these cases (43.8%). In the karyotyping and neonatal data, no false positive or negative results were observed in our study. Conclusion: MPS-based NIPT detects fetal chromosomal aneuploidies with high accuracy. Introduction of NIPT as into clinical settings could prevent about 98% of unnecessary invasive diagnostic procedures.

Cyclin D1 Gene G870A Variants and Primary Brain Tumors

  • Zeybek, Umit;Yaylim, Ilhan;Ozkan, Nazli Ezgi;Korkmaz, Gurbet;Turan, Saime;Kafadar, Didem;Cacina, Canan;Kafadar, Ali Metin
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.14 no.7
    • /
    • pp.4101-4106
    • /
    • 2013
  • Alterations of cyclin D1, one of the main regulators of the cell cycle, are known to be involved in various cancers. The CCDN1 G870A polymorphism causes production of a truncated variant with a shorter half-life and thus thought to impact the regulatory effect of CCDN1. The aim of the present study was to contribute to existing results to help to determine the prognostic value of this specific gene variant and evaluate the role of CCDN1 G870A polymorphism in brain cancer susceptibility. A Turkish study group including 99 patients with primary brain tumors and 155 healthy controls were examined. Genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism analysis. The CCDN1 genotype frequencies in meningioma, glioma and control cases were not significantly different (p>0.05). No significant association was detected according to clinical parameters or tumor characteristics; however, a higher frequency of AG genotype was recorded within patients with astrocytic or oligoastrocytic tumors. A significant association between AG genotype and gliobilastoma multiforme (GBM) was recorded within the patients with glial tumors (p value=0.048 OR: 1.87 CI% 1.010-3.463). According to tumor characteristics, no statistically significant difference was detected within astrocytic, oligoasltrocytic tumors and oligodentrioglias. However, patients with astrocytic astrocytic or oligoastrocytic tumors showed a higher frequency of AG genotype (50%) when compared to those with oligodendrioglial tumors (27.3%). Our results indicate a possible relation between GBM formation and CCDN1 genotype.

Proteome-based Identification of Proteins Regulated by Aldosterone in Rat Kidney Cortex (프로테오믹스 기술을 통한 쥐의 신장 피질에서 알도스테론(Aldosterone)에 의해 조절되는 단백질 동정)

  • Song, Mi-Na;Jeon, Hong-Bae;Choi, Hyo-Jung;Kwon, Tae-Hwan;Baek, Moon-Chang
    • YAKHAK HOEJI
    • /
    • v.54 no.3
    • /
    • pp.180-186
    • /
    • 2010
  • Aldosterone, mineralocorticoid hormone, has important functions related to the regulation of blood pressure and balance of fluids and electrolytes in the distal region of the nephron. By genomic and non-genomic action of aldosterone, the physiological kidney functions are modulated. However, many of them except several kind of sodium channel have not been identified and analyzed yet. In this study, proteomic technologies with two-dimensional gel electrophoresis (2-DE) gel using aldosterone rat model were applied to analyze and identify the aldosterone dependently expressed proteins in rat kidney cortex. As a result, the established aldosterone rat model exhibited the normal physiological responses to aldosterone and modulated proteins were identified, which included 15 increased and 3 decreased proteins on 2-DE analysis. Among them, 11 proteins were identified as changed proteins by LC-MS/MS analysis. These proteins identified as aldosterone induced proteins were involved in several cellular pathways such as cytoskeleton remodeling, energy metabolism, amino acid metabolism, and chaperone process. In conclusion, our data could provide the insights into the new mechanism underlying regulation of kidney functions by aldosterone.