scholarly journals Metabolomics in Prenatal Medicine: A Review

2021 ◽  
Vol 8 ◽  
Author(s):  
Giovanni Monni ◽  
Luigi Atzori ◽  
Valentina Corda ◽  
Francesca Dessolis ◽  
Ambra Iuculano ◽  
...  

Pregnancy is a complicated and insidious state with various aspects to consider, including the well-being of the mother and child. Developing better non-invasive tests that cover a broader range of disorders with lower false-positive rates is a fundamental necessity in the prenatal medicine field, and, in this sense, the application of metabolomics could be extremely useful. Metabolomics measures and analyses the products of cellular biochemistry. As a biomarker discovery tool, the integrated holistic approach of metabolomics can yield new diagnostic or therapeutic approaches. In this review, we identify and summarize prenatal metabolomics studies and identify themes and controversies. We conducted a comprehensive search of PubMed and Google Scholar for all publications through January 2020 using combinations of the following keywords: nuclear magnetic resonance, mass spectrometry, metabolic profiling, prenatal diagnosis, pregnancy, chromosomal or aneuploidy, pre-eclampsia, fetal growth restriction, pre-term labor, and congenital defect. Metabolite detection with high throughput systems aided by advanced bioinformatics and network analysis allowed for the identification of new potential prenatal biomarkers and therapeutic targets. We took into consideration the scientific papers issued between the years 2000–2020, thus observing that the larger number of them were mainly published in the last 10 years. Initial small metabolomics studies in perinatology suggest that previously unidentified biochemical pathways and predictive biomarkers may be clinically useful. Although the scientific community is considering metabolomics with increasing attention for the study of prenatal medicine as well, more in-depth studies would be useful in order to advance toward the clinic world as the obtained results appear to be still preliminary. Employing metabolomics approaches to understand fetal and perinatal pathophysiology requires further research with larger sample sizes and rigorous testing of pilot studies using various omics and traditional hypothesis-driven experimental approaches.


2021 ◽  
Vol 6 ◽  
pp. 41
Author(s):  
Karen Birmingham ◽  
Steven Gregory ◽  
Yasmin Iles-Caven ◽  
Abigail Fraser ◽  
Deborah Lawlor ◽  
...  

Background: When the Avon Longitudinal Study of Parents and Children (ALSPAC) was planned, it was assumed that the clinical obstetric data would be easily accessible from the newly developed National Health Service computerised ‘STORK’ system. Pilot studies, however, showed that, although fairly accurate in regard to aspects of labour and delivery, it was, at the time (1990-2), inadequate for identifying the full antenatal and postnatal details of clinical complications and treatments of the women in the Study. Methods: A scheme was therefore developed to train research staff to find and abstract relevant details from clinical records onto proformas designed for the purpose. Extracting such data proved very time consuming (up to six hours for complicated pregnancies) and consequently expensive. Funding for the enterprise was obtained piecemeal using specific focussed grants to extract data for subsamples of the Study, including a random sample to serve as controls. Results: To date, detailed records have been completed for 8369 pregnancies, and a further 5336 (13,705 in total) have complete details on specific prenatal areas, including serial measures of maternal blood pressure, proteinuria and weight. In this Data Note we describe the information abstracted from the obstetric medical records concerning the mother during pregnancy, labour, delivery and the first two weeks of the puerperium. Information abstracted relating to the fetus (including fetal monitoring, presentation, method of delivery) and neonate (signs of asphyxia, resuscitation, treatment and well-being) will be described in a further Data Note. Conclusions: These data add depth to ALSPAC concerning ways in which the signs and symptoms, procedures and treatments of the mother prenatally, intrapartum and postnatally, may impact on the long-term health and development of both mother and child. They augment the data collected from the mothers’ questionnaires and the ‘STORK’ digital hospital data.



Author(s):  
Ekaterina Bourova-Flin ◽  
Samira Derakhshan ◽  
Afsaneh Goudarzi ◽  
Tao Wang ◽  
Anne-Laure Vitte ◽  
...  

Abstract Background Large-scale genetic and epigenetic deregulations enable cancer cells to ectopically activate tissue-specific expression programmes. A specifically designed strategy was applied to oral squamous cell carcinomas (OSCC) in order to detect ectopic gene activations and develop a prognostic stratification test. Methods A dedicated original prognosis biomarker discovery approach was implemented using genome-wide transcriptomic data of OSCC, including training and validation cohorts. Abnormal expressions of silent genes were systematically detected, correlated with survival probabilities and evaluated as predictive biomarkers. The resulting stratification test was confirmed in an independent cohort using immunohistochemistry. Results A specific gene expression signature, including a combination of three genes, AREG, CCNA1 and DDX20, was found associated with high-risk OSCC in univariate and multivariate analyses. It was translated into an immunohistochemistry-based test, which successfully stratified patients of our own independent cohort. Discussion The exploration of the whole gene expression profile characterising aggressive OSCC tumours highlights their enhanced proliferative and poorly differentiated intrinsic nature. Experimental targeting of CCNA1 in OSCC cells is associated with a shift of transcriptomic signature towards the less aggressive form of OSCC, suggesting that CCNA1 could be a good target for therapeutic approaches.



Cancers ◽  
2021 ◽  
Vol 13 (13) ◽  
pp. 3222
Author(s):  
Pedro M. Rodrigues ◽  
Arndt Vogel ◽  
Marco Arrese ◽  
Domingo C. Balderramo ◽  
Juan W. Valle ◽  
...  

The increasing mortality rates of cholangiocarcinoma (CCA) registered during the last decades are, at least in part, a result of the lack of accurate non-invasive biomarkers for early disease diagnosis, making the identification of patients who might benefit from potentially curative approaches (i.e., surgery) extremely challenging. The obscure CCA pathogenesis and associated etiological factors, as well as the lack of symptoms in patients with early tumor stages, highly compromises CCA identification and to predict tumor development in at-risk populations. Currently, CCA diagnosis is accomplished by the combination of clinical/biochemical features, radiological imaging and non-specific serum tumor biomarkers, although a tumor biopsy is still needed to confirm disease diagnosis. Furthermore, prognostic and predictive biomarkers are still lacking and urgently needed. During the recent years, high-throughput omics-based approaches have identified novel circulating biomarkers (diagnostic and prognostic) that might be included in large, international validation studies in the near future. In this review, we summarize and discuss the most recent advances in the field of biomarker discovery in CCA, providing new insights and future research directions.



2021 ◽  
Vol 1 (5) ◽  
pp. 91-94
Author(s):  
Angeline Fenisenda

Recently the popularity of plastic surgical procedure has been increased. Many people surgically alter their physical appearance with the intent of boosting their social and psychological well-being; however, the long-term effectiveness of aesthetic surgery on improving well-being is unconfirmed. To have successful cosmetic plastic surgery result, it is imperative to assess candidates for predictors of poor outcomes. These include the following factor : psychiatric disorder, demographic factors (male and younger age), relationship issues, unrealistic expectations, previous dissatisfied surgery, and minimal deformity. For psychiatric patients, despite having technically satisfactory cosmetic surgery, poor emotional adjustment and social functioning were seen post procedure. Proper screening and evaluation of these patients could save money and resources. In this brief review we discuss about psychiatric disorder screen on plastic surgery to prevent unwanted outcome. A literature review was conducted in the electronic database PubMed using keyword “Psychiatric Disorder”, “Plastic surgery”, “Prevention” and “Screening”. All type of studies were included for this study, such as controlled trials, systematic reviews, literature reviews, and pilot studies published between 2011 and 2021. Articles which not written in English were excluded from the study. This search resulted in 18 papers. Some patient who undergo cosmetic surgery suffer from underdiagnosed or untreated psychiatric disorder. To avoid unnecessary expense and resource it is advisable that all patient who seek cosmetic procedure undergo psychiatric screen such as PHQ-9, GAD-7, BDDQ and other test to avoid un-necessary expense and resource.



2021 ◽  
Vol 9 (Suppl 3) ◽  
pp. A258-A258
Author(s):  
Myrto Moutafi ◽  
Sandra Martinez-Morilla ◽  
Prajan Divakar ◽  
Ioannis Vathiotis ◽  
Niki Gavrielatou ◽  
...  

BackgroundDespite the clinical effectiveness of Immune Checkpoint Inhibitors (ICI) in lung cancer, only around 20% remain disease free at 5 years. Predictive biomarkers for ICIs are neither sensitive nor specific. Here, we used the GeoMx Digital Spatial Profiler (DSP) (NanoString, Inc.) to analyze high-plex protein in a quantitative and spatially resolved manner from single formalin-fixed paraffin embedded tissue sections toward the goal of identification of new biomarkers with better predictive value.MethodsPre-treatment samples from 56 patients with NSCLC treated with ICI were collected, represented in Yale tissue microarray 471 (YTMA471), and analyzed. A panel of 71 photocleavable oligonucleotide-labeled primary antibodies (NanoString Human IO panel) was used for protein detection. Protein expression was measured in 4 molecularly defined tissue compartments, defined by fluorescence co-localization (tumor [panCK+], leukocytes [CD45+/CD68-], macrophages [CD68+] and an aggregate stromal immune cell compartment, defined as the sum of leukocyte and macrophage expression [panCK-/CD45+/CD68+]) generating 284 variables representing potential predictive biomarkers. Promising candidates were orthogonally validated with Quantitative Immunofluorescence (QIF). Pre-treatment samples from 40 patients with NSCLC (YTMA404) that received ICI, and 174 non-ICI treated operable NSCLC patients (YTMA423) were analyzed to provide independent cohort validation. All statistical testing was performed using a two-sided significance level of α=0.05 and multiple testing correction (Benjamini-Hochberg method, FDR < 0.1).ResultsInitial biomarker discovery on 284 protein variables were generated by univariate analysis using continuous log-scaled data. High PD-L1 expression in tumor cells predicted longer survival (PFS; HR 0.67, p=0.017) and validated the training cohort. We found 4 markers associated with PFS, and 3 with OS in the stromal compartment. Of these, expression of CD66b in stromal immune cells predicted significantly shorter OS (HR 1.31, p=0.016) and shorter PFS (HR 1.24, p = 0.04). Tertile analysis using QIF on all three tissue cohorts for CD66b expression, assessed by QIF, showed that CD66b was indicative but not prognostic for survival [discovery cohort, YTMA471 (OS; HR 3.02, p=0.013, PFS; HR 2.38, p=0.023), validation cohort; YTMA404 (OS; HR 2.97, p=0.018, PFS; HR 1.85, p=0.1), non-ICI treated cohort YTMA423 (OS; HR 1.02, p>0.9, PFS; HR 0.72, p=0.4)].ConclusionsUsing the DSP technique, we have discovered that CD66b expressed in the stromal immune [panCK-/CD45+/CD68+] molecular compartment is associated with resistance to ICI therapy in NSCLC. This observation was validated by an orthogonal approach in an independent ICI treated NSCLC cohort. Since CD66b identifies neutrophils, further studies are warranted to characterize the role of neutrophils in ICI resistance.AcknowledgementsDr Moutafi is supported by a scholarship from the Hellenic Society of Medical Oncologists (HESMO)Ethics ApprovalAll tissue samples were collected and used under the approval from the Yale Human Investigation Committee protocol #9505008219 with an assurance filed with and approved by the U.S. Department of Health and Human Services



2020 ◽  
Vol 56 (2) ◽  
Author(s):  
Dariusz Danilewicz
Keyword(s):  

The well-being concept refers to other similar concepts related to people’s physical, mental, emotional and intellectual well-being. In broader terms, in addition to internal dimensions, it must include external dimensions as well. In discussing the concept of wellbeing, it is worth using a holistic approach – implementing this approach in practice allows for achieving measurable organisational effects.



Author(s):  
Mousumi Sethy ◽  
Reshmi Mishra

The pandemic caused by COVID-19 has left few countries untouched. It is a far-reaching implication on humankind, with children and adolescents, being no exception. Although the prevalence and fatality are negligible among children, a possible impact on their psychological and mental health cannot be disregarded. The unprecedented change in the way of living is bound to be having some psychological consequences on children and adolescents. The experiences gathered in childhood and adolescence are known to contribute to shaping the physical, emotional, and social well-being in adult life. Children are highly susceptible to environmental stressors. The present situation has the potential of adversely affecting the physical and mental well-being of children. To save the children from the long term consequences of this pandemic, a holistic approach integrating biological, psychological, social and spiritual methods of enhancing mental health have become essential. A concerted effort of government, Non Government Organisations (NGOs), parents, teachers, schools, psychologists, counselors and physicians are required to deal with the mental health issues of children and adolescents. This paper discusses the possible role of these agencies in the holistic intervention of this crisis.



2021 ◽  
pp. 177-182
Author(s):  
E Miletínová ◽  
J Bušková

Sleep is essential component of life. Even though the research in this field develops constantly, there are still many aspects of this rather complex process that remains to be fully clarified. One of these aspects, reason why we actually sleep, is perhaps the most crucial. In this mini review we aim to address this question and discuss potential functions of sleep. Many recent scientific papers are currently available that covers similar topic. We tried to summarize these recent findings. There are certainly many ways how to approach this rather complex issue. Our article will specifically focus on role of sleep in neuronal development, synaptic plasticity, memory consolidation or mental health in general. Its role in immune system functioning will also be mentioned. Moreover, we will also consider more general functions of sleep, such as well-being of the organisms or securing survival of the individual. In conclusion, we will highlight possible main function of sleep.



Author(s):  
Markus Reuber ◽  
Gregg H. Rawlings ◽  
Steven C. Schachter

This chapter presents a case with compelling evidence for frontal lobe epilepsy (FLE) and Psychogenic Non-Epileptic Seizures (PNES) to address the difficulties providers encounter in helping families receive a definitive diagnosis and eventual path forward. The patient in question was a teenage Caucasian female seeking a third opinion for paroxysmal events. Her father had requested an evaluation to rule out epilepsy after having been told twice before that his daughter’s episodes were likely to be psychogenic in nature. Evidence subsequently obtained over the course of her three-day video-EEG hospitalization provided support for both epilepsy and PNES. The chapter then argues that every adolescent and young adult with epilepsy would benefit from a holistic approach to seizure management, one that takes into account the patient’s quality of life, psychosocial well-being, and relationship with school, family, and friends.



2019 ◽  
Vol 117 (2) ◽  
pp. 950-958 ◽  
Author(s):  
Yilu Wang ◽  
Jianqiao Ge ◽  
Hanqi Zhang ◽  
Haixia Wang ◽  
Xiaofei Xie

Engaging in altruistic behaviors is costly, but it contributes to the health and well-being of the performer of such behaviors. The present research offers a take on how this paradox can be understood. Across 2 pilot studies and 3 experiments, we showed a pain-relieving effect of performing altruistic behaviors. Acting altruistically relieved not only acutely induced physical pain among healthy adults but also chronic pain among cancer patients. Using functional MRI, we found that after individuals performed altruistic actions brain activity in the dorsal anterior cingulate cortex and bilateral insula in response to a painful shock was significantly reduced. This reduced pain-induced activation in the right insula was mediated by the neural activity in the ventral medial prefrontal cortex (VMPFC), while the activation of the VMPFC was positively correlated with the performer’s experienced meaningfulness from his or her altruistic behavior. Our findings suggest that incurring personal costs to help others may buffer the performers from unpleasant conditions.



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