Publication date: Available online 3 March 2018
Source:Gene Expression Patterns
Author(s): Erkan Gumus, Ismail Sari, Meral Yilmaz, Ali Cetin
Improving the success of in vitro fertilization (IVF) and infertility treatment depend on understanding basic cellular and molecular mechanisms of human preimplantation development. Pre-implantation mouse embryo model is an ideal empiric system to understand these mechanisms. This study was aimed to investigate the gene and protein expressions of LAMTOR1 in mouse oocytes and pre-implantation embryos at different developmental stages. The findings demonstrate that LAMTOR1 was detected in the oocytes and in subsequent all stages of embryo development. The expression was increased progressively from MII-stage oocyte to morula stage embryo (p < 0.05), highest expression was identified in morula stage (p < 0.05), and decreased in blastocyst stage (p < 0.05). Immunofluorescence analysis showed outer and inner nuclear membranes and cytoplasmic subcellular localizations of LAMTOR1 in oocytes and pre-implantation embryos. The LAMTOR1 immunoexpression was gradually increased from MII oocyte and the highest level was detected at the morula stage of embryo development (p < 0.05). The lowest LAMTOR1 immunoexpression was detected at GV-stage oocyte (p < 0.05) and no clear difference in M2 oocyte, I-cell, 2-cell, and blastocyst stage embryos. In conclusion, both the mRNA and protein levels of LAMTOR1 increase progressively in cleavage-stage mouse embryos. LAMTOR1 has a significant higher embryonic expression at 2-cell to morula stage. LAMTOR1 may play a role in the oogenesis process and probably required for further developmental stages and it may play a possible role in the process of compaction and cavitation in mice. Therefore, further studies are needed to explore the LAMTOR1 expression especially in the different stages of embryonal development.
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Σάββατο 3 Μαρτίου 2018
Investigation of LAMTOR1 gene and protein expressions in germinal vesicle and metaphase II oocytes and embryos from 1-cell to blastocyst stage in a mouse model
Opioids: A Pediatric Epidemic
A 2.95 kg baby boy is born, after a 37-week gestation, to a 20-year-old mother with a history of intravenous heroin use during her pregnancy. She attempted drug rehabilitation and entered a methadone program, but began using street drugs within 72 hours prior to delivery. The baby develops symptoms of neonatal abstinence syndrome including tremors, tachypnea, temperature instability, uncoordinated suck, and poor feeding. The infant is treated with decreasing doses of morphine. The mother is taught infant care and referred to social services and drug rehabilitation.
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Disaster Preparedness: Meeting the Needs of Children
Children in communities throughout the United States have been increasingly affected by natural disasters and disasters of human origin. During a 3-month period in 2017, the pediatric population was affected by Hurricane Harvey in Texas and Louisiana; Hurricane Irma in Florida, Georgia, and South Carolina; and the devastation of Hurricane Maria in Puerto Rico. Uncontrolled wildfires in both Northern and Southern California devastated families and communities. Mass casualty shootings at a concert in Las Vegas, Nevada, and a church in Sutherland Springs, Texas, coincided with or quickly followed these disasters.
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Nursing Intuition: Is my Patient being Trafficked?
As nurses we are trained in science, biology, anatomy, and physical assessment. The piece of nursing you cannot learn in a classroom is intuition. That feeling or sense you get when you walk into a patient's room and instinctively know that something is wrong. It may be the way a patient is sitting, or the look on their face. Sometimes, it is as obvious as respiratory distress or unstable vital signs. But what if it is not that obvious?
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Pathophysiology and Management of Mild to Moderate Pediatric Atopic Dermatitis
Atopic dermatitis (AD), or eczema, is a chronic inflammatory skin condition characterized by relapsing pruritic and dry, scaly lesions. AD affects 10% to 20% of children in the United States and significantly affects the quality of life of patients and their families. Primary care providers (PCPs) are often the first point of contact for the management of AD symptoms. As many as 70% of patients with mild to moderate disease can be managed by a PCP, underscoring the need for these providers to understand basic AD pathophysiology and current standards of care.
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Impact of Degree of Obesity on Sleep, Quality of Life, and Depression in Youth
Obese youth are more likely to report difficulties with sleep, depression, and quality of life (QOL). This study aims to characterize sleep problems, QOL, and symptoms of depression by degree of obesity.
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Oral Health Knowledge and Practices of Pediatric and Family Nurse Practitioners
The purpose of the study was to assess the relationship between oral health educational activities of NPs and their current oral health knowledge and practices.
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Methodologic Considerations for Transition Research Using the National Survey of Children with Special Health Care Needs: A Systematic Review of the Literature
The purpose of this review was to describe methodologic considerations in using the National Survey of Children With Special Health Care Needs (NS-CSHCN) for transition research in terms of variable inclusion and definition of transition outcomes and to provide suggestions for using NS-CSHCN for transition research. A systematic review was conducted. Inclusion criteria included use of NS-CSHCN data and transition as an outcome variable. Fourteen studies were included. Ten (71%) studies evaluated a sample of all CSHCN.
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Decreasing Caregivers' Positive Attitudes Toward Spanking
The Play Nicely program is a multimedia training program designed to teach caregivers and health care professionals how to manage early childhood aggression and to use positive parenting practices. The aim of this article is to help the practicing clinician determine whether the Play Nicely program should be incorporated into his/her practice and to evaluate whether the program is effective at decreasing positive attitudes toward spanking in a socioeconomically disadvantaged population in both a resident pediatric clinic and a community center.
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Outcomes of an Adolescent School-Based Health Initiative Needs Assessment
Adolescent School-Based Health Initiatives (ASBHIs) are designed to increase adolescent access to medical homes and services that are not otherwise available without significant barriers. ASBHIs have been proven to increase access to care for school-aged adolescents with unique needs and limited access to these much-needed medical services. For this descriptive study we conducted a needs assessment to understand and determine the needs and desires for a school-based health initiative in a middle school in the community.
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Parental Perspectives of the Impact of Epilepsy and Seizures on Siblings of Children with Epilepsy
To assess parental perspectives of the impact of epilepsy and seizures on siblings of children in the Seizures and Outcomes Study.
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Commercial Sexual Exploitation of Children: Health Care Use and Case Characteristics
The purpose of this study was to describe pediatric health care utilization, familial psychosocial factors, child sexual abuse case characteristics, and patient demographic characteristics of adolescents prior to or at the time of their most recent identification as a victim of commercialized sexual exploitation of children (CSEC).
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“It's a Long-Term Process”: Description of Daily Family Life When a Child Has a Feeding Disorder
Pediatric feeding problems occur in 25% of the general pediatric population and up to 80% of those who have developmental delays. When feeding problems place the child at nutritional risk, families are typically encouraged to increase their child's intake. Family mealtime can become a battle, which further reinforces problematic feeding behaviors from the child and intensifies well-intentioned but unguided parental mealtime efforts. Family has an essential influence on feeding; however, studies to date neglect to address the family context of feeding difficulty.
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Descriptive Analysis and Profile of Health Care Transition Services Provided to Adolescents and Emerging Adults in the Movin' On Up Health Care Transition Program
Global efforts are underway to develop, implement and test health care transition (HCT) models of care. Most studies have focused on the transfer of care models. In contrast, the nurse-led interdisciplinary HCT model, Movin' On Up, provides comprehensive HCT services beginning in early adolescence. A retrospective analysis was conducted of data extracted from HCT records of 146 adolescents and emerging adults with spina bifida (with a mean age of 13.91 years) who were provided services in the Movin' On Up HCT program.
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Development and Characterization of an In Vitro Model for Radiation-Induced Fibrosis
Radiation Research, Volume 189, Issue 3, Page 326-336, March 2018.
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Biophysics Model of Heavy-Ion Degradation of Neuron Morphology in Mouse Hippocampal Granular Cell Layer Neurons
Radiation Research, Volume 189, Issue 3, Page 312-325, March 2018.
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AZD9291 Increases Sensitivity to Radiation in PC-9-IR Cells by Delaying DNA Damage Repair after Irradiation and Inducing Apoptosis
Radiation Research, Volume 189, Issue 3, Page 283-291, March 2018.
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Whole-Body Oxygen (16O) Ion-Exposure-Induced Impairments in Social Odor Recognition Memory in Rats are Dose and Time Dependent
Radiation Research, Volume 189, Issue 3, Page 292-299, March 2018.
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Role of Infiltrating Monocytes in the Development of Radiation-Induced Pulmonary Fibrosis
Radiation Research, Volume 189, Issue 3, Page 300-311, March 2018.
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Roles of Hydration for Inducing Decomposition of 2-Deoxy-d-ribose by Ionization of Oxygen K-Shell Electrons
Radiation Research, Volume 189, Issue 3, Page 264-272, March 2018.
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Radiation-Induced Long Noncoding RNAs in a Mouse Model after Whole-Body Irradiation
Radiation Research, Volume 189, Issue 3, Page 251-263, March 2018.
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Impaired Attentional Set-Shifting Performance after Exposure to 5 cGy of 600 MeV/n 28Si Particles
Radiation Research, Volume 189, Issue 3, Page 273-282, March 2018.
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The Sequence Preference of Gamma-Radiation-Induced Damage in End-Labeled DNA after Heat Treatment
Radiation Research, Volume 189, Issue 3, Page 238-250, March 2018.
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Synergy Theory in Radiobiology
Radiation Research, Volume 189, Issue 3, Page 225-237, March 2018.
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Cross Talk between Radiation and Immunotherapy: The Twain Shall Meet
Radiation Research, Volume 189, Issue 3, Page 219-224, March 2018.
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An autoregulatory loop controls the expression of the transcription factor NF-Y
Publication date: Available online 2 March 2018
Source:Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
Author(s): Silvia Belluti, Valentina Semeghini, Valentina Basile, Giovanna Rigillo, Valentina Salsi, Filippo Genovese, Diletta Dolfini, Carol Imbriano
The heterotrimeric NF-Y complex is a pioneer factor that binds to CCAAT-genes and regulates their transcription. NF-Y cooperates with multiple transcription factors and co-regulators in order to positively or negatively influence gene transcription. The recruitment of NF-Y to CCAAT box is significantly enriched in cancer-associated gene promoters loci and positively correlates with malignancy. NF-Y subunits, in particular the DNA-binding subunit NF-YA and the histone-fold subunit NF-YC, appear overexpressed in specific types of cancer.Here we demonstrate that NF-Y subunits expression is finely regulated through transcriptional and post-translational mechanisms thus allowing control over basal expression levels. NF-Y negatively regulates the transcription of the genes encoding for its subunits. DNA pull-down/affinity purification assay coupled with Mass Spectrometry identified putative co-regulators, such as Lamin A, involved in NF-YA gene transcription level. We also evidentiate how the stability of the complex is severely affected by the absence of one subunit.Our results identified for the first time one of the mechanisms responsible for NF-Y expression, which may be involved in the aberrant expression and activity observed in tumor cells and other pathological conditions.
Graphical abstract
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The effects of botulinum toxin injections on plantar flexor spasticity in different phases after stroke. A secondary analysis from a double-blind, randomized trial
There are no guidelines on the ideal time to inject botulinum toxin (BT-A) for lower leg spasticity in stroke patients. An early injection may produce unwanted weakness, interfering with gait recovery.
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Challenge and threat states: examining cardiovascular, cognitive and affective responses to two distinct laboratory stress tasks
Publication date: Available online 2 March 2018
Source:International Journal of Psychophysiology
Author(s): Gavin P. Trotman, Sarah E. Williams, Mary L. Quinton, Jet J.C.S. Veldhuijzen van Zanten
BackgroundThe theory of challenge and threat states in athletes (TCTSA) proposes psychological antecedents will predict psychological and cardiovascular responses to stress. The present study investigated this theory in two contextually different stress tasks.Method78 males completed a computerised competition and a public speaking task. Cardiovascular activity was measured with impedance cardiography and a blood pressure monitor. Challenge and threat antecedents, indicators of challenge and threat and emotions were assessed pre- and post-tasks.ResultsBoth tasks induced significant perturbations in cardiovascular activity and were perceived as highly challenging. Reported perceived threat was higher in the public speaking task compared to the competition task. Associations between the proposed antecedents, self-report and cardiovascular indices of challenge and threat and emotions support the TCTSA for the competition task, but less so for the public speaking task.ConclusionThe TCTSA is supported during competitive stress, however during social stress there is dissociation between self-report appraisals and cardiovascular reactivity.
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Rewarding images do not invoke the reward positivity: They inflate it
Publication date: Available online 2 March 2018
Source:International Journal of Psychophysiology
Author(s): Darin R. Brown, James F. Cavanagh
Increasing evidence suggests that the reward positivity conforms to an axiomatic reward prediction error – that is, it closely follows the rule-like encoding of surprising reinforcers. However, a major limitation in these EEG studies is the over-reliance on a single class of secondary rewards like points or money, constraining dimensionality and limiting generalizability. In the current suite of studies we address this limitation by leveraging different classes of rewards outcomes, specifically emotionally pleasant pictures. Over a series of three experiments, participants were able to choose idiosyncratically preferred pictures as rewards. During the first two experiments, participants were rewarded with either high or low points or high or low preferred pictures. The reward positivity was modulated by points, but not by pictures (regardless of preference), which instead evoked enhanced N2 amplitudes. In a third study that paired high/low points and preferred/non-preferred pictures, the point-induced reward positivity was inflated by the presence of a preferred picture. In line with past research stating the reward positivity is primarily sensitive to positive reward prediction error, this report finds that it is also influenced by a liking dimension, which possibly acts as an affective state to frame the motivational aspect of extrinsic rewards.
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Does practicing a skill with the expectation of teaching alter motor preparatory cortical dynamics?
Publication date: Available online 2 March 2018
Source:International Journal of Psychophysiology
Author(s): Marcos Daou, Keith R. Lohse, Matthew W. Miller
Recent evidence suggests practicing a motor skill with the expectation of teaching it enhances learning by increasing information processing during motor preparation. However, the specific motor preparatory processes remain unknown. The present study sought to address this shortcoming by employing EEG to assess participants' motor preparatory processes while they completed a golf putting pretest, and then practiced putting with the expectation of (a) teaching another participant how to putt the next day (teach group, n = 30), or (b) being tested on their putting the next day (test group, n = 30). Participants' EEG during the 3-s prior to and 1-s after initiating putter movement was analyzed. All participants completed posttests 1 day after the practice session. The teach group exhibited better posttest performance (superior learning) relative to the test group, but no group differences in motor preparatory processing (EEG) emerged. However, participants in both groups exhibited linear decreases in both theta power at frontal midline and upper-alpha power over motor areas during putt initiation. These results suggest a decrease in working memory and action monitoring (frontal midline theta), and an increase in motor programming (motor upper-alpha) during putt initiation. Further, participants in both groups exhibited increased frontal midline theta from pretest to practice, but decreases in both upper motor-alpha and upper-alpha coherence between left/right temporal and motor planning regions. These results suggest participants utilized working memory and action monitoring to a greater extent during practice relative to pretest, while refining their motor programming and verbal-analytic/visuospatial involvement in motor programming.
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Heart rate variability is associated with thermal heat pain threshold in males, but not females
Publication date: Available online 2 March 2018
Source:International Journal of Psychophysiology
Author(s): Lincoln M. Tracy, Julian Koenig, Nellie Georgiou-Karistianis, Stephen J. Gibson, Melita J. Giummarra
Previous research has suggested that heart rate variability (HRV; the variability in the interval between successive heartbeats) can predict the perception of experimentally-induced pain (i.e., pain sensitivity). However, little research has sought to investigate sex-specific associations between HRV and pain sensitivity. This is an important consideration, given that sex differences in resting HRV have been observed, and there has been extensive debate about sex differences in sensitivity to experimentally-induced pain. We examined whether the association between resting HRV and sensitivity to experimentally-induced pain differed in men and women. Fifty-one pain free individuals (26 women, mean age = 21.9 years) participated. Resting electrocardiography (ECG) was collected during a paced breathing task (15 cycles per minute), and measures of HRV were extracted via Fast Fourier Transformation. Thermal heat pain threshold (i.e., the point at which the sensation was first perceived as painful, rather than warm) was measured with a Medoc Pathway Pain and Sensory Evaluation System. There were no sex differences in resting HRV or thermal heat pain threshold, nor did sex moderate the relationship between HRV and thermal heat pain threshold. However, there were significant positive relationships between thermal heat pain threshold and LF-HRV (r = 0.47), and HF-HRV (r = 0.43) in men, but not in women. The results suggest that higher pain threshold appears to be related to greater engagement of the inhibitory parasympathetic nervous system in men only, and that other biopsychosocial mechanisms may contribute to experimental pain experience in women. Future research is needed to study these mechanisms further, accounting for other factors known to influence nociceptive and cardiovascular regulatory processes (e.g., ethnicity, hormones).
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GPS-identified vulnerabilities of savannah-woodland primates to leopard predation and their implications for early hominins
Source:Journal of Human Evolution, Volume 118
Author(s): Lynne A. Isbell, Laura R. Bidner, Eric K. Van Cleave, Akiko Matsumoto-Oda, Margaret C. Crofoot
Predation is thought to have been a key selection pressure in primate evolution, especially in the savannah-woodland habitats where several early hominin species lived. However, predator-primate prey relationships are still poorly understood because human presence often deters predators, limiting our ability to quantify the impact of predation. Synchronized high-resolution tracking of leopards (Panthera pardus), vervets (Chlorocebus pygerythrus), and olive baboons (Papio anubis) during a 14-month study in Kenya revealed that increased vulnerability to leopard predation was not associated with higher encounter rates, smaller body size, smaller group size, or greater distance from refuges, contrary to long-standing inferences. Instead, the initiation, rate, timing, and duration of encounters, outcome of approaches, and predation events showed only a diel pattern of differential vulnerability. In the absence of human observers, vervets were more vulnerable during the day, whereas baboons were more vulnerable at night, but overall neither species was more vulnerable than the other. As our results show that leopards avoided baboons during the day and hunted them at night, we suggest that the same pattern would have applied to hominins—because they were even larger than baboons and bipedal, resulting in similarly offensive capability on the ground during the day but poorer agility in the trees at night, especially as they became committed bipeds. Drawing from hominid behavior and archaeopaleontological and ethnographic evidence, we hypothesize that ground-sleeping hominins initially dealt with this formidable threat by using stone tools to modify Acacia branches into 'bomas', thorny enclosures that provided nighttime shelter. The ability of hominins to create their own nightly refuges on the ground wherever Acacia spp. were available would have allowed them to range more widely, a crucial step in furthering the spread of hominins across Africa and beyond.
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Developing DNA methylation-based diagnostic biomarkers
Source:Journal of Genetics and Genomics
Author(s): Hyerim Kim, Xudong Wang, Peng Jin
An emerging paradigm shift for disease diagnosis is to rely on molecular characterization beyond traditional clinical and symptom-based examinations. Although genetic alterations and transcription signature were first introduced as potential biomarkers, clinical implementations of these markers are limited due to low reproducibility and accuracy. Instead, epigenetic changes are considered as an alternative approach to disease diagnosis. Complex epigenetic regulation is required for normal biological functions and it has been shown that distinctive epigenetic disruptions could contribute to disease pathogenesis. Disease-specific epigenetic changes, especially DNA methylation, have been observed, suggesting its potential as disease biomarkers for diagnosis. In addition to specificity, the feasibility of detecting disease-associated methylation marks in the biological specimens collected non-invasively, such as blood samples, has driven the clinical studies to validate disease-specific DNA methylation changes as a diagnostic biomarker. Here, we highlight the advantages of DNA methylation signature for diagnosis in different diseases and discuss the statistical and technical challenges to be overcome before clinical implementation.
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Precision medicine in hearing loss
Source:Journal of Genetics and Genomics
Author(s): Jason R. Rudman, Christine Mei, Sara E. Bressler, Susan H. Blanton, Xue-Zhong Liu
Precision medicine (PM) proposes customized medical care based on a patient's unique genome, biomarkers, environment and behaviors. Hearing loss (HL) is the most common sensorineural disorder worldwide and is frequently caused by a single genetic mutation. With recent advances in PM tools such as genetic sequencing and data analysis, the field of HL is ideally positioned to adopt the strategies of PM. Here, we review current and future applications of PM in HL as they relate to the four core qualities of PM (P4): predictive, personalized, patient-centered, and participatory. We then introduce a strategy for effective incorporation of HL PM into the design of future research studies, electronic medical records, and clinical practice to improve diagnostics, prognostics, and, ultimately, individualized patient treatment. Finally, specific anticipated ethical and economic concerns in this growing era of genomics-based HL treatment are discussed. By integrating PM principles into translational HL research and clinical practice, hearing specialists are uniquely positioned to effectively treat the heterogeneous causes and manifestations of HL on an individualized basis.
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Hepatocytes in a normal adult liver are derived solely from the embryonic hepatocytes
Source:Journal of Genetics and Genomics
Author(s): Ce Gao, Zhihui Zhu, Yuqi Gao, Li Jan Lo, Jun Chen, Lingfei Luo, Jinrong Peng
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Novel DYW-type pentatricopeptide repeat (PPR) protein BLX controls mitochondrial RNA editing and splicing essential for early seed development of Arabidopsis
Source:Journal of Genetics and Genomics
Author(s): Yan Sun, Jiaying Huang, Sheng Zhong, Hongya Gu, Shan He, Li-Jia Qu
In plants, RNA editing is a post-transcriptional process that changes specific cytidine to uridine in both mitochondria and plastids. Most pentatricopeptide repeat (PPR) proteins are involved in organelle RNA editing by recognizing specific RNA sequences. We here report the functional characterization of a PPR protein from the DYW subclass, Baili Xi (BLX), which contains five PPR motifs and a DYW domain. BLX is essential for early seed development, as plants lacking the BLX gene was embryo lethal and the endosperm failed to initiate cellularization. BLX was highly expressed in the embryo and endosperm, and the BLX protein was specifically localized in mitochondria, which is essential for BLX function. We found that BLX was required for the efficient editing of 36 editing sites in mitochondria. Moreover, BLX was involved in the splicing regulation of the fourth intron of nad1 and the first intron of nad2. The loss of BLX function impaired the mitochondrial function and increased the reactive oxygen species (ROS) level. Genetic complementation with truncated variants of BLX revealed that, in addition to the DYW domain, only the fifth PPR motif was essential for BLX function. The upstream sequences of the BLX-targeted editing sites are not conserved, suggesting that BLX serves as a novel and major mitochondrial editing factor (MEF) via a new non-RNA-interacting manner. This finding provides new insights into how a DYW-type PPR protein with fewer PPR motifs regulates RNA editing in plants.
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Overexpressing dominant-negative FGFR2-IIIb impedes lung branching morphogenesis in pigs
Source:Journal of Genetics and Genomics
Author(s): Qin Chen, Bin Fang, Ying Wang, Chu Li, Xiaoxue Li, Ronggen Wang, Qiang Xiong, Lining Zhang, Yong Jin, Manling Zhang, Xiaorui Liu, Lin Li, Lisha Mou, Rongfeng Li, Haiyuan Yang, Yifan Dai
Genetic studies with mouse models have shown that fibroblast growth factor receptor 2-IIIb (FGFR2-IIIb) plays crucial roles in lung development and differentiation. To evaluate the effect of FGFR2-IIIb in pig lung development, we employed somatic cell nuclear transfer (SCNT) technology to generate transgenic pig fetuses overexpressing the transmembrane (dnFGFR2-IIIb-Tm) and soluble (dnFGFR2-IIIb-HFc) forms of the dominant-negative human FGFR2-IIIb driven by the human surfactant protein C (SP-C) promoter, which was specifically expressed in lung epithelia. Eight dnFGFR2-IIIb-Tm transgenic and twelve dnFGFR2-IIIb-HFc transgenic pig fetuses were collected from three and two recipient sows, respectively. Repression of FGFR2 in lung epithelia resulted in smaller lobes and retardation of alveolarization in both forms of dnFGFR2-IIIb transgenic fetuses. Moreover, the dnFGFR2-IIIb-HFc transgenic ones showed more deterioration in lung development. Our results demonstrate that disruption of FGFR2-IIIb signaling in the epithelium impedes normal branching and alveolarization in pig lungs, which is less severe than the results observed in transgenic mice. The dnFGFR2-IIIb transgenic pig is a good model for the studies of blastocyst complementation as well as the mechanisms of lung development and organogenesis.
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Turning the corner from observation to intervention in human genetics
Source:Journal of Genetics and Genomics
Author(s): David L. Nelson
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Current strategies for the treatment of inborn errors of metabolism
Source:Journal of Genetics and Genomics
Author(s): Michael J. Gambello, Hong Li
Inborn errors of metabolism (IEMs) are a large group of inherited disorders characterized by disruption of metabolic pathways due to deficient enzymes, cofactors, or transporters. The rapid advances in the understanding of the molecular pathophysiology of many IEMs, have led to significant progress in the development of many new treatments. The institution and continued expansion of newborn screening provide the opportunity for early treatment, leading to reduced morbidity and mortality. This review provides an overview of the diverse therapeutic approaches and recent advances in the treatment of IEMs that focus on the basic principles of reducing substrate accumulation, replacing or enhancing absent or reduced enzyme or cofactor, and supplementing product deficiency. In addition, the challenges and obstacles of current treatment modalities and future treatment perspectives are reviewed and discussed.
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The current landscape for the treatment of mitochondrial disorders
Source:Journal of Genetics and Genomics
Author(s): Jesse Slone, Baoheng Gui, Taosheng Huang
The mitochondrial organelle is crucial to the energy metabolism of the eukaryotic cell. Defects in mitochondrial function lie at the core of a wide range of disorders, including both rare primary mitochondrial disorders and more common conditions such as Parkinson's disease and diabetes. Inherited defects in mitochondrial function can be found in both the nuclear genome and the mitochondrial genome, with the latter creating unique challenges in the treatment and understanding of disease passed on through the mitochondrial genome. In this review, we will describe the limited treatment regimens currently used to alleviate primary mitochondrial disorders, as well as the potential for emerging technologies (in particular, those involving direct manipulation of the mitochondrial genome) to more decisively treat this class of disease. We will also emphasize the critical parallels between primary mitochondrial disorders and more common ailments such as cancer and diabetes.
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AQR is a novel type 2 diabetes-associated gene that regulates signaling pathways critical for glucose metabolism
Source:Journal of Genetics and Genomics
Author(s): Chun Song, Han Yan, Han-Ming Wang, Yan Zhang, Huiqing Cao, Yiqi Wan, Lingbao Kong, Shenghan Chen, Hong Xu, Bing-Xing Pan, Jin Zhang, Guo-Huang Fan, Hong-Bo Xin, Zicai Liang, Weiping Jia, Xiao-Li Tian
Type 2 diabetes mellitus (T2DM) is a common metabolic disease influenced by both genetic and environmental factors. In this study, we performed an in-house genotyping and meta-analysis study using three independent GWAS datasets of T2DM and found that rs3743121, located 1 kb downstream of AQR, was a novel susceptibility SNP associated with T2DM. The risk allele C of rs3743121 was correlated with the increased expression of AQR in white blood cells, similar to that observed in T2DM models. The knockdown of AQR in HepG2 facilitated the glucose uptake, decreased the expression level of PCK2, increased the phosphorylation of GSK-3β, and restored the insulin sensitivity. Furthermore, the suppression of AQR inhibited the mTOR pathway and the protein ubiquitination process. Our study suggests that AQR is a novel type 2 diabetes-associated gene that regulates signaling pathways critical for glucose metabolism.
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Genetic profiling of cancer with circulating tumor DNA analysis
Source:Journal of Genetics and Genomics
Author(s): Ling Lu, Junqin Bi, Liming Bao
Circulating cell-free tumor DNA (ctDNA) in the blood is DNA released from apoptotic, circulating, and living tumor cells. ctDNA is about 140 nt in length and has a half-life of about 1.5 h. ctDNA analysis provides a noninvasive means to assess the genetic profile of cancer in real time. With the advent of molecular technologies, including digital PCR and massively parallel sequencing (MPS), ctDNA analysis has shown promise as a highly sensitive and specific alternative to conventional tissue biopsy in cancer detection, longitudinal monitoring, and precision therapy. This review provides an overview of the latest development in our understanding of the biologic characteristics, detection methodologies, and potential clinical implications of ctDNA, as well as the challenges in translating ctDNA analysis from the research arena to patient care.
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The Chinese garden of genetics —celebrating 40th anniversary of Genetics Society of China
Source:Journal of Genetics and Genomics, Volume 45, Issue 1
Author(s): Yongbiao Xue
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Structure and functions of the translation initiation factor eIF4E and its role in cancer development and treatment
Source:Journal of Genetics and Genomics, Volume 45, Issue 1
Author(s): Arianna Piserà, Adele Campo, Salvatore Campo
In eukaryotic cells, protein synthesis is a complex and multi-step process that has several mechanisms to start the translation including cap-dependent and cap-independent initiation. The translation control of eukaryotic gene expression occurs principally at the initiation step. In this context, it is critical that the eukaryotic translation initiation factor eIF4E bind to the 7-methylguanosine (m7G) cap present at the 5′-UTRs of most eukaryotic mRNAs. Combined with other initiation factors, eIF4E mediates the mRNA recruitment on ribosomes to start the translation. Moreover, the eIF4E nuclear bodies are involved in the export of specific mRNAs from the nucleus to the cytoplasm. In this review, we focus on the eIF4E structure and its physiological functions, and describe the role of eIF4E in cancer development and progression and the current therapeutic strategies to target eIF4E.
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Mouse macrophage specific knockout of SIRT1 influences macrophage polarization and promotes angiotensin II-induced abdominal aortic aneurysm formation
Source:Journal of Genetics and Genomics, Volume 45, Issue 1
Author(s): Zhuqin Zhang, Jing Xu, Yue Liu, Tingting Wang, Jianfei Pei, Liqin Cheng, Delong Hao, Xiang Zhao, Hou-Zao Chen, De-Pei Liu
Abdominal aortic aneurysm (AAA) is a vascular degenerative disease. Macrophage polarization and the balance between classically activated macrophages (M1) and alternatively activated macrophages (M2) are crucial for AAA pathogenesis. The present study aims to investigate the roles of macrophage SIRT1 in AAA formation and macrophage polarization. We found that in mouse peritoneal macrophages, SIRT1 expression was decreased after M1 stimulation, but was enhanced after M2 stimulation. Results from SIRT1flox/flox mice and macrophage specific SIRT1 knockout mice with treatment of angiotensin II (Ang II) for 4 weeks showed that macrophage specific deficiency of SIRT1 increased the incidence of AAA and exacerbated the severity, including more severe aneurysm types, enlarged diameter of the aneurysm and increased degradation of elastin. In mouse aortas, SIRT1 deficiency increased the pro-inflammatory M1 molecule inducible nitric oxide synthase (iNOS), and decreased M2 molecules such as arginase 1 (Arg1) and mannose receptor (MR). Furthermore, in peritoneal macrophages, SIRT1 deficiency increased the expression of M1 inflammatory molecules, but decreased the expression of M2 molecules. Overexpression of SIRT1 had the opposite effects. Thus, macrophage specific knockout of SIRT1 influences macrophage polarization and accelerates Ang II-induced AAA formation.
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A Systematic Review of Community Health Workers’ Role in Occupational Safety and Health Research
Abstract
We systematically reviewed the literature to describe how community health workers (CHWs) are involved in occupational health and safety research and to identify areas for future research and research practice strategies. We searched five electronic databases from July 2015 through July 2016. Inclusion criteria were as follows: (1) study took place in the United States, (2) published as a full peer-review manuscript in English, (3) conducted occupational health and safety research, and (4) CHWs were involved in the research. The majority of 17 included studies took place in the agriculture industry (76%). CHWs were often involved in study implementation/design and research participant contact. Rationale for CHW involvement in research was due to local connections/acceptance, existing knowledge/skills, communication ability, and access to participants. Barriers to CHW involvement in research included competing demands on CHWs, recruitment and training difficulties, problems about research rigor and issues with proper data collection. Involving CHWs in occupational health and safety research has potential for improving inclusion of diverse, vulnerable and geographically isolated populations. Further research is needed to assess the challenges and opportunities of involving CHWs in this research and to develop evidence-based training strategies to teach CHWs to be lay-health researchers.
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Is the caudate nucleus capable of generating seizures? Evidence from direct intracerebral recordings
Publication date: Available online 2 March 2018
Source:Clinical Neurophysiology
Author(s): Jerome Aupy, Ammar Kheder, Juan Bulacio, Patrick Chauvel, Jorge Gonzalez-Martinez
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Aerobic Interval vs. Continuous Training in Patients with Coronary Artery Disease or Heart Failure: An Updated Systematic Review and Meta-Analysis with a Focus on Secondary Outcomes
Abstract
Background
In a previous meta-analysis including nine trials comparing aerobic interval training with aerobic continuous training in patients with coronary artery disease, we found a significant difference in peak oxygen uptake favoring aerobic interval training.
Objective
The objective of this study was to (1) update the original meta-analysis focussing on peak oxygen uptake and (2) evaluate the effect on secondary outcomes.
Methods
We conducted a systematic review with a meta-analysis by searching PubMed and SPORTDiscus databases up to March 2017. We included randomized trials comparing aerobic interval training and aerobic continuous training in patients with coronary artery disease or chronic heart failure. The primary outcome was change in peak oxygen uptake. Secondary outcomes included cardiorespiratory parameters, cardiovascular risk factors, cardiac and vascular function, and quality of life.
Results
Twenty-four papers were identified (n = 1080; mean age 60.7 ± 10.7 years). Aerobic interval training resulted in a higher increase in peak oxygen uptake compared with aerobic continuous training in all patients (1.40 mL/kg/min; p < 0.001), and in the subgroups of patients with coronary artery disease (1.25 mL/kg/min; p = 0.001) and patients with chronic heart failure with reduced ejection fraction (1.46 mL/kg/min; p = 0.03). Moreover, a larger increase of the first ventilatory threshold and peak heart rate was observed after aerobic interval training in all patients. Other cardiorespiratory parameters, cardiovascular risk factors, and quality of life were equally affected.
Conclusion
This meta-analysis adds further evidence to the clinically significant larger increase in peak oxygen uptake following aerobic interval training vs. aerobic continuous training in patients with coronary artery disease and chronic heart failure. More well-designed randomized controlled trials are needed to establish the safety of aerobic interval training and the sustainability of the training response over longer periods.
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