Unraveling Desmin's Head Domain Structure and Function.

Understanding the structure and function of intermediate filaments (IFs) is necessary in order to explain why more than 70 related IF genes have evolved in vertebrates while maintaining such dramatically tissue-specific expression. Desmin is a member of the large multigene family of IF proteins and is specifically expressed in myocytes. In an effort to elucidate its muscle-specific behavior, we have used a yeast two-hybrid system in order to identify desmin's head binding partners. We described a mitochondrial and a lysosomal protein, NADH ubiquinone oxidoreductase core subunit S2 (NDUFS2), and saposin D, respectively, as direct desmin binding partners. In silico analysis indicated that both interactions at the atomic level occur in a very similar way, by the formation of a three-helix bundle with hydrophobic interactions in the interdomain space and hydrogen bonds at R16 and S32 of the desmin head domain. The interactions, confirmed also by GST pull-down assays, indicating the necessity of the desmin head domain and, furthermore, point out its role in function of mitochondria and lysosomes, organelles which are disrupted in myopathies due to desmin head domain mutations.

Use of in silico approaches, synthesis and profiling of Pan-filovirus GP-1,2 preprotein specific antibodies.

Intermolecular interactions of protein-protein complexes play a principal role in the process of discovering new substances used in the diagnosis and treatment of many diseases. Among such complexes of proteins, we have to mention antibodies; they interact with specific antigens of two genera of single-stranded RNA viruses belonging to the family Filoviridae-Ebolavirus and Marburgvirus; both cause rare but fatal viral hemorrhagic fever in Africa, with pandemic potential. In this research, we conduct studies aimed at the design and evaluation of antibodies targeting the filovirus glycoprotein precursor GP-1,2 to develop potential targets for the pan-filovirus easy-to-use rapid diagnostic tests. The in silico research using the available 3D structure of the natural antibody-antigen complex was carried out to determine the stability of individual protein segments in the process of its formation and maintenance. The computed free binding energy of the complex and its decomposition for all amino acids allowed us to define the residues that play an essential role in the structure and indicated the spots where potential antibodies can be improved. Following that, the study involved targeting six epitopes of the filovirus GP1,2 with two polyclonal antibodies (pABs) and 14 monoclonal antibodies (mABs). The evaluation conducted using Enzyme Immunoassays tested 62 different sandwich combinations of monoclonal antibodies (mAbs), identifying 10 combinations that successfully captured the recombinant GP1,2 (rGP). Among these combinations, the sandwich option (3G2G12* - (rGP) - 2D8F11) exhibited the highest propensity for capturing the rGP antigen.

Indications of younger age at menarche in Greek adolescents but with no relation to body mass index.

PURPOSE: This study aimed to present recent trends in the pubertal timing of a Greek female sample. METHODS: Data were collected retrospectively from medical records of healthy females aged 6-18 years who attended a tertiary Adolescent Friendly Health Center over a 5-year period (2016-2020) and included gestational age, birth anthropometrics, and age of thelarche and/or pubarche and/or menarche, along with corresponding anthropometric, hormonal, and biochemical measurements. RESULTS: Data from 298 girls' medical records were included in the analysis. Median age at menarche, thelarche, and pubarche was 12, 9, and 9 years, respectively. The mean interval between pubertal onset and menarche was 1.99 years. The mean body mass index (BMI) at menarche and thelarche was 20.99 kg/m2 and 18.90 kg/m2, respectively. The mean weight at menarche was 49.6 kg, whereas the mean height difference between thelarche and menarche was 19.17 cm. Among participants, 6.3% had premature menarche, while 24.0% had premature thelarche. Birth weight was moderately correlated with BMI at thelarche/pubarche (rs=0.334, p = 0.005). Birth weight and BMI at thelarche/pubarche were not predictive of premature menarche or premature thelarche. Median (interquartile range, IQR) levels at menarche vs. thelarche were significantly higher for insulin-like growth factor-1 [358.00 (140.50) vs. 176.00 (55.00) ng/ml], follicle stimulation hormone [5.65 (3.14) vs. 3.10 (4.23) mIU/ml], testosterone [25.50 (31.00) vs. 13.00 (21.00) ng/dl], dehydroepiandrosterone sulfate [117.00 (112.50) vs. 46.40 (51.90) µg/dl], and insulin [17.40 (15.05) vs. 8.47 (4.97) µIU/ml]. CONCLUSION: The timing of pubertal stages in the Greek female sample studied followed the recent international downward trends. Younger age at menarche was not related to BMI.

Pythagorean Self-Awareness Intervention Promoted Healthy Dietary Patterns, Controlled Body Mass Index, and Reduced Self-Reported Stress Levels of Primary School Children: Α One-Arm Pilot Study.

Stress is common in childhood and an important factor that affects behavior later in adulthood. The aim of this study was to assess the effects of the Pythagorean Self-Awareness Intervention (PSAI), a holistic "cognitive reconstruction" technique to assess primary school children's stress levels, adherence to the Mediterranean diet, and body mass index. Secondary outcome measures included relations with peers, sleep, and hair cortisol concentrations. This one-arm pilot study took place in a primary school, from February to June 2019. Participants were 32 pupils attending the second grade of primary school who received the 8-week PSAI to adopt healthy behaviors and lifestyle. Self-report measures were applied for the evaluation of various variables at the beginning and the end of the eight-week intervention. There were statistically significant reductions in stress levels (p = 0.00), nightmares' frequency (p = 0.00), body mass index (p = 0.03), and bully scale (p = 0.00), and improvement in Mediterranean diet quality (p = 0.00). Hair cortisol concentrations increased (p = 0.02). The social scale significantly increased. Bedtime remained the same after the intervention. This pilot trial showed that the PSAI promoted healthy dietary patterns, controlled children's body mass index, and reduced their self-reported stress levels. Further research on the implementation of this holistic program on children is suggested, in well-powered randomized controlled trials.

The Effect of Pythagorean Self-Awareness Intervention on Stress and Mental Health Characteristics of Civil Servants in Crete, Greece.

Evidence is limited regarding the effects of holistic programs on work-related stress, anxiety, and depressive symptomatology. This study aimed to evaluate the effects of the Pythagorean Self-Awareness Intervention (PSAI) on stress and mental health characteristics of civil servants in Crete, Greece. This was a single arm interventional study with PSAI outcome evaluation. Validated, self-reported scales were used to assess stress and mental health characteristics (PSS, DASS, UCLA, RSE, and STAXI). Hair samples were obtained to measure cortisol concentrations as a biological stress marker. Paired-samples t-test or Wilcoxon tests were used to evaluate pre- and post-intervention measures. Overall, 48 civil servants (56.3% women, mean age 51 years) participated in the study. Statistically significant reductions were observed in all self-reported stress scales (p < 0.05). Although hair cortisol decreased, this difference was not statistically significant (p = 0.109). Statistically significant improvements were also observed on depressive symptomatology (p < 0.001), self-esteem (p < 0.001), loneliness (p < 0.001), self-efficacy (p = 0.002), and anger (p = 0.017). The PSAI appeared beneficial with respect to all self-reported outcomes. Larger studies including control groups and further follow-up evaluations are needed to ascertain these findings.

Validation of the Greek Version of the State Shame and Guilt Scale (SSGS).

Both shame and guilt are self-conscious negative emotions claiming self-representations and self-awareness. Growing evidence indicates that these pessimistic emotions are associated to stress and stress-related disorders. The aim of this study was to translate and investigate the validity and reliability of the State Shame and Guilt Scale (SSGS) in a Greek adult population sample. A total of 181 adults (63% women) participated in the study. To validate the SSGS, correlations with the Depression Anxiety Stress Scales (DASS) and the Perceived Stress Scale (PSS) were also examined. Exploratory factor analysis was used to examine the factors of the Greek version of the SSGS. In addition, for greater validity, comparisons were made according to sex, marital status and level of education. The reliability assessment revealed that the index of internal consistency (Cronbach's alpha) was above the acceptable margin (0.7) for the three subscales (shame; 0.717, guilt; 0.770, pride; 0.874). The Greek version of the 15-item State Shame and Guilt Scale (SSGS) demonstrated good psychometric properties and could be proven useful for the assessment of shame, guilt, and pride.

Post-traumatic Stress Disorder as a Risk Factor for the Development of Risky Behavior Among Adolescent Offenders: A Systematic Review.

The purpose of this research study was to obtain greater insight into the associations of post-traumatic stress disorder (PTSD) and trauma-exposed experiences with the development of offending behavior in adolescents. Using the PubMed and Scopus databases, we performed a systematic review of recent cross-sectional studies between 2016 and 2022, investigating the associations of PTSD and trauma with the social and mental behavior of adolescents. Fifty-three articles were initially identified. Due to duplication, eight articles were excluded, leaving 45 remaining articles. In addition, 34 articles were excluded due to year of publication, review, abstract, or irrelevant title. Seven articles were included in this systematic review after excluding the remaining due to different study types or samples. Included studies primarily examined the associations of PTSD symptomatology and expression of externalizing symptoms with risky behavior and the commission of a crime. The strongest outcomes were increased levels of violent behavior, violent delinquency, and total risk in correlation with PTSD symptoms, emotional numbing, use of drugs, and in some cases maltreatment. The results of the systematic review suggest that PTSD symptoms and risky behavior, which can be also fueled by maltreatment activities in the family circle, are associated with criminal behavior. Future research is needed to confirm these findings.

Burnout in General Surgeons. A Systematic Review.

Occupational burnout is particularly widespread amongst surgical professionals. During the past 10 years, both the awareness and the ability to reliably measure and classify "burnout" in medical professionals have increased. The purpose of this systematic review was to summarize the current evidence on the burnout levels of general surgeons. Online searches were carried out using the scientific search engines PubMed, Embase, Cinahl, and Google scholar, from 2010 to 2020, before the COVID-19 pandemic. Articles that met the inclusion criteria were critically evaluated using the critical appraisal skills programme (CASP) tool. Five studies pertaining to 669 subjects were included in this review. As expected, "burnout syndrome" was mainly due to the exhaustive and demanding conditions of working life and was strongly observed in general surgeons. The incidence of the burnout syndrome increased with their years of service, compromised their quality of life, and had detrimental effects on their mental and physical health. Personal achievements and emotional satisfaction were protective for the occurrence of the syndrome. We conclude that valid recognition and prevention of the burnout syndrome are necessary. Further research is needed to manage this phenomenon within the healthcare settings and the surgical departments.

Mindfulness and Academic Performance of College and University Students: A Systematic Review.

Higher education's expectations place demands on students' attainment, leading them to experience stress and anxiety, which negatively affect their academic improvement and life satisfaction. The aim of this systematic review was to investigate (a) if mindfulness as an inner ability is related to academic attainment, through dependent variables, including compassion, engagement, stress or anxiety state, depression, self-efficacy, mindfulness's facets (non-reactivity, acting with awareness) and (b) if mindfulness-based interventions positively affect the academic performance of college and university students. The systematic review was conducted in accordance with the PRISMA statement. PubMed, Web of Science, and Cochrane Library Wiley were screened to identify studies published relevant to the topic. In total, 568 papers were retrieved in the initial search. Five papers met the eligibility criteria and were included in the systematic review: a randomized controlled trial, a non-randomized controlled trial, a quasi-experimental study, a quantitative exploratory pilot study, and a longitudinal randomized controlled study. Most interventional studies revealed a non-significant direct effect of practicing mindfulness technique on academic attainment. Further research, especially randomized controlled trials are necessary to clarify the effect of mindfulness on academic performance of college and university students.

How Does Meditation Affect the Default Mode Network: A Systematic Review.

This article provides a systematic review of studies evaluating the effect of meditation on the Default Mode Network (DMN). The review was conducted according to PRISMA guidelines. A literature search of PubMed, Scopus, and Embase was conducted up to June 2020. Search terms included default mode network or DMN and meditation.A total of 306 articles were identified, of which 16 controlled trials with a total of 853 experienced (in Mindfulness, Samatha, Raja Yoga, Transcendental Meditation, Vipassana, Insight meditation Theravada tradition) and non-experienced mediators were finally included in this systematic review. The results showed that meditative interventions affect the operation of DMN and there are differences in functional connectivity between networks. Further research should be undertaken to establish meditation as an effective intervention strategy for well-being.

Attitudes of Employees in Unaccompanied Children's Shelters and Work-Related Stress During the COVID-19 Pandemic.

Data related to the stress of employees in shelters for unaccompanied minors are scarce, especially when considering the escalation of the refugee issue. This study analyzed aspects of this issue as it was carried out in child protection organizations in Greece, which is a country where a huge number of immigrants and refugees pass through and thousands of professionals are employed in this field.More specifically, the aim of this study was to examine the stress (general, perceived, work-related) and burnout symptoms of a specific group of employees exposed to the COVID-19 quarantine restrictions, employees at the 'front line' of care in shelters that host unaccompanied minors and teenagers.The study was carried out from March 2020 to December 2021, when social restrictions and other preventive measures were imposed. The study sample was recruited from non-governmental organizations and shelters for unaccompanied minors, in the urban area of the center of Athens, i.e. the International Organization for Migration, The Home Project, Arsis, Iliachtida, and Zeuxis. The sample consisted of employees at the 'front line' of care in shelters that hosted unaccompanied minors and teenagers. Participants were professionals whose duty was to deal with and respond to the needs of children and adolescents within the shelters they lived in. Participants completed the following questionaires before and after the pandemic restrictions: the Job Stress Measure (JSM), the Maslach Burnout Inventory (MBI), the Perceived Stress Scale (PSS), the Stress in General Scale (SiGS) and a questionnaire of 11-items regarding COVID-19, focusing on the professionals' perceived stress, working conditions, working demands and the impact of COVID-19 on all the aforementioned.The study sample consisted of 50 employees (40 females, 10 males; mean age ± SD 31.46 ± 7.91 years) in hostels for unaccompanied minors. A statistically significant difference was found only in SiGS, with increased stress after COVID-19 (p = 0.001). In terms of sex, significant differences were found at baseline in PSS and Emotional Exhaustion (p = 0.036 and p = 0.028, respectively) (females revealed higher levels than males). Age and educational level were factors that interacted with the increased levels in SiGS after COVID-19 (p = 0.015 and p = 0.006, respectively). Moreover, significant differences were found at baseline in PSS (p = 0.004), with higher levels observed in employees with higher education. Workers who did not work remotely had lower levels in Personal Accomplishment after COVID-19 compared to employees who worked remotely (p = 0.050). Interestingly, the JSM showed a tendency for decreased stress levels after the implementation of the quarantine, suggesting that the employees' work-related stress remained approximately at the same levels. On the other hand, perceived stress increased as the job demands remained the same, while social and personal outlet was in appeasement.The necessity for more research to be held among health professionals is evident and is also imperative to carry out interventional studies to manage stress and thus, provide better mental health services to unaccompanied minors. There is also need for further research in similar populations of professionals outside the urban context of Athens, i.e. in the Greek islands near the sea borders, where the refugees' entries are higher in number and more frequent.

Brain Activity of Professional Dancers During Audiovisual Stimuli Exposure: A Systematic Review.

Many studies have shown the effect of dance to the brain. It seems that long-term practice modulates brain plasticity and visuomotor skills, as it activates the Action Observation Network (AON). The aim of this systematic review was to evaluate potential differences in the brain activity (visuomotor skills) between professional dancers and non-dancer adults, measured by electroencephalography (EEG), during the observation of an individual who is dancing (video dance stimuli). This literature search was conducted from February to June 2022, according to the PRISMA guidelines, in the PubMed database using advanced search, mesh terms, and extensive manual search. The included articles were published in English. Specifically, case-control studies were selected, which used healthy adults, professional dancers, and non-dancers as participants, who were exposed to video dance clips and measured by EEG. The articles were excluded if they were based on different type of study, unhealthy population, control group with athletic background, different type of stimuli (rhythmic), or different type of task and procedure. The ratings of quality of evidence were conducted using the Joanna Briggs Institute's (JBI) critical appraisal tool. Five case-control studies were included with 193 participants in total, 87% females. The participating groups of professional dancers (n = 12-25) had mean age 25.14 years, with at least 9-19 years of professional training, whereas control groups had the same sample size, mean age of 24.14 years, and no experience in dancing. Most of the studies presented high methodological quality. All studies showed significant differences in dancers' brain activity, especially regarding the visuomotor skills. The results showed faster activation of AON demonstrated by higher P300 at the frontocentral regions and increased sensitivity of the occipital temporal cortex. Dancers could cope easier with familiar-unfamiliar and effortful-effortless movements. They also demonstrated faster alpha band peak frequency, stronger synchrony over the bands theta, beta, gamma during the audiovisual stimuli, and the ability to encode faster the visual information. The results demonstrate that dancers had better visuomotor skills suggesting dance-enhanced neuroplasticity, as professional dancers processed their actions easier. Dance, which includes visuomotor tasks, could help in prevention, therapy, and rehabilitation of neurodegenerative diseases or movement disorders.

A Systematic Review on the Adult Alpha Brainwave Activity After Essential Oil Inhalation.

Aroma extracts from plant species have been utilized since ancient times for a variety of discomforting circumstances. Aromatherapy is a recognized complementary therapeutic treatment performed in various ways such as massage or dermal application, with its main uses involving relaxation, pain relief, and stress management. Several studies have outlined that inhalation of fragrance may influence the brain function since their components can cross the blood-brain barrier and interact with central nervous system receptors. The aim of this review was to systematically present findings regarding alpha brain wave activity reported exclusively by electroencephalography. The study was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. The PubMed and Scopus databases were screened for relevant papers, based on specific eligibility criteria. The final step of the process resulted in 13 studies published between 1998 and 2021, using different essential oils. Most of the studies revealed the increase of alpha brainwave activity post-essential oil inhalation. Given the proven positive outcomes of increased alpha wave activity on several domains such as cognitive performance and better mental state, further research on the impact of essential oil inhalation is warranted.

Serum concentrations of BDNF in adolescents with metabolic syndrome: a case-control study between normal - BMI adolescents and adolescents with obesity.

Brain-Derived Neurotrophic Factor (BDNF) has been linked to various conditions of the cardiovascular and nervous systems. Scarce data exist about the concentrations of BDNF in children and adolescents in relation with obesity and metabolic syndrome (MetS). The aim of this study was to examine the serum BDNF concentrations in adolescents with metabolic syndrome and according to their body mass index (BMI) status. This was a case-control study, assessing BDNF concentrations between adolescents with MetS (with obesity vs. normal-BMI), in relation to sex, anthropometric, metabolic and endocrine parameters. Participants included male and female adolescents, whose anthropometric and metabolic panel, as well as serum BDNF concentrations were measured. A total of 59 adolescents (obesity: 29; normal-BMI: 30) were included in the study. Increased serum BDNF concentrations were observed in MetS adolescents with obesity when compared with normal-BMI adolescents (p < 0.001). Males exhibited higher concentrations of BDNF than females (p = 0.045). The sample was further divided into four categories by sex and BMI status, with normal-BMI females exhibiting significantly lower BDNF concentrations than females and males with obesity(p = 0.005). In the entire study sample, serum BDNF concentrations correlated positively with BMI z-scores, however, this statistical significance was preserved only in the females of the sample. No statistical difference was observed between males of different BMI z-scores categories.  Conclusion: Obesity appeared as a major factor for increased serum BDNF concentrations in adolescents with MetS (vs. normal-BMI), with a higher impact on BDNF concentrations in females than males. What is Known: • The brain-derived neurotrophic factor (BDNF) is involved in metabolic syndrome in adults but data in adolescents are scarce. What is New: • Obesity (vs. normal BMI) was a major factor for increased serum BDNF in adolescents with metabolic syndrome. • Obesity had a higher impact on BDNF concentrations in females than males with metabolic syndrome.

An Updated Evolutionary and Structural Study of TBK1 Reveals Highly Conserved Motifs as Potential Pharmacological Targets in Neurodegenerative Diseases.

TANK-binding kinase 1 protein (TBK1) is a kinase that belongs to the IκB (IKK) family. TBK1, also known as T2K, FTDALS4, NAK, IIAE8, and NF-κB, is responsible for the phosphorylation of the amino acid residues, serine and threonine. This enzyme is involved in various key biological processes, including interferon activation and production, homeostasis, cell growth, autophagy, insulin production, and the regulation of TNF-α, IFN-ß, and IL-6. Mutations in the TBK1 gene alter the protein's normal function and may lead to an array of pathological conditions, including disorders of the central nervous system. The present study sought to elucidate the role of the TBK1 protein in amyotrophic lateral sclerosis (ALS), a human neurodegenerative disorder. A broad evolutionary and phylogenetic analysis of TBK1 was performed across numerous organisms to distinguish conserved regions important for the protein's function. Subsequently, mutations and SNPs were explored, and their potential effect on the enzyme's function was investigated. These analytical steps, in combination with the study of the secondary, tertiary, and quaternary structure of TBK1, enabled the identification of conserved motifs, which can function as novel pharmacological targets and inform therapeutic strategies for amyotrophic lateral sclerosis.

Semantic and Population Analysis of the Genetic Targets Related to COVID-19 and Its Association with Genes and Diseases.

SARS-CoV-2 is a coronavirus responsible for one of the most serious, modern worldwide pandemics, with lasting and multifaceted effects. By late 2021, SARS-CoV-2 has infected more than 180 million people and has killed more than 3 million. The virus gains entrance to human cells through binding to ACE2 via its surface spike protein and causes a complex disease of the respiratory system, termed COVID-19. Vaccination efforts are being made to hinder the viral spread, and therapeutics are currently under development. Toward this goal, scientific attention is shifting toward variants and SNPs that affect factors of the disease such as susceptibility and severity. This genomic grammar, tightly related to the dark part of our genome, can be explored through the use of modern methods such as natural language processing. We present a semantic analysis of SARS-CoV-2-related publications, which yielded a repertoire of SNPs, genes, and disease ontologies. Population data from the 1000 Genomes Project were subsequently integrated into the pipeline. Data mining approaches of this scale have the potential to elucidate the complex interaction between COVID-19 pathogenesis and host genetic variation; the resulting knowledge can facilitate the management of high-risk groups and aid the efforts toward precision medicine.

ADRA2B and HTR1A: An Updated Study of the Biogenic Amine Receptors Reveals Novel Conserved Motifs Which Play Key Role in Mental Disorders.

Mental disorders are strongly connected with several psychiatric conditions including depression, bipolar disorder, schizophrenia, eating disorder, and suicides. There are many biological conditions and pathways that define these complicated illnesses. For example, eating disorders are complex mental health conditions that require the intervention of geneticists, psychiatrists, and medical experts in order to alleviate their symptoms. A patient with suicidal ideation should first be identified and consequently monitored by a similar team of specialists. Both genetics and epigenetics can shed light on eating disorders and suicides as they are found in the main core of such investigations. In the present study, an analysis has been performed on two specific members of the GPCR family toward drawing conclusions regarding their functionality and implementation in mental disorders. Specifically, evolutionary and structural studies on the adrenoceptor alpha 2b (ADRA2B) and the 5-hydroxytryptamine receptor 1A (HTR1A) have been carried out. Both receptors are classified in the biogenic amine receptors sub-cluster of the GPCRs and have been connected in many studies with mental diseases and malnutrition conditions. The major goal of this study is the investigation of conserved motifs among biogenic amine receptors that play an important role in this family signaling pathway, through an updated evolutionary analysis and the correlation of this information with the structural features of the HTR1A and ADRA2B. Furthermore, the structural comparison of ADRA2B, HTR1A, and other members of GPCRs related to mental disorders is performed.

A Genomic Study of the Japanese Population Focusing on the Glucocorticoid Receptor Interactome Highlights Distinct Genetic Characteristics Associated with Stress Response.

All living organisms have been programmed to maintain a complex inner equilibrium called homeostasis, despite numerous adversities during their lifespan. Any threatening or perceived as such stimuli for homeostasis is termed a stressor, and a highly conserved response system called the stress response system has been developed to cope with these stimuli and maintain or reinstate homeostasis. The glucocorticoid receptor, a transcription factor belonging to the nuclear receptors protein superfamily, has a major role in the stress response system, and research on its interactome may provide novel information regarding the mechanisms underlying homeostasis maintenance. A list of 149 autosomal genes that have an essential role in GR function or are prime examples of GRE-containing genes was composed in order to gain a comprehensive view of the GR interactome. A search for SNPs on those particular genes was conducted on a dataset of 3554 Japanese individuals, with mentioned polymorphisms being annotated with relevant information from the ClinVar, LitVar, and dbSNP databases. Forty-two SNPs of interest and their genomic locations were identified. These SNPs have been associated with drug metabolism and neuropsychiatric, metabolic, and immune system disorders, while most of them were located in intronic regions. The frequencies of those SNPs were later compared with a dataset consisting of 1465 Korean individuals in order to find population-specific characteristics based on some of the identified SNPs of interest. The results highlighted.that rs1043618 frequencies were different in the two populations, with mentioned polymorphism having a potential role in chronic obstructive pulmonary disease in response to environmental stressors. This SNP is located in the HSPA1A gene, which codes for an essential GR co-chaperone, and such information showcases that similar gene may be novel genomic targets for managing or combatting stress-related pathologies.

Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.

INTRODUCTION: Ectodermal dysplasias are a group of >200 clinically and congenitally heterogeneous disorders characterized by abnormal development in the ectodermal structures, such as hair, nails, teeth, and sweat glands. We report here the clinical and molecular genetic analysis of five Greek families with different types of ectodermal dysplasia (ED). SUBJECTS: The study involved 15 individuals from 5 Greek families that included 8 ED patients, 5 carriers of recessive X-linked or autosomal ED, and 2 healthy relatives. After genetic counseling, the parents signed an informed consent form before subsequent genetic testing. METHODS: Genomic DNA was isolated from white blood cells of all studied individuals. The search for mutations was realized in patients' DNA samples using next-generation sequencing (NGS) gene panel, whole exome sequencing (WES), chromosomal microarray analysis (CMA), and multiplex ligation-dependent probe amplification (MLPA) technique. RESULTS: The clinical diagnosis of common X-linked recessive hypohidrotic ectodermal dysplasia (HED) was suspected in five male patients with partial anodontia of baby and permanent teeth, hypohidrosis, and thin hair from three families. All HED patients were hemizygous for deletions in the EDA1 gene (Xq13.1): three related patients had a 20 bp deletion, one had a 19 bp deletion, and one had a 180 bp deletion. A female patient had the rare autosomal dominant syndrome of ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) caused by heterozygous missense mutation in the TP63 gene (3q28) that appeared de novo. Two siblings with hypotrichosis and hypodontia, a female and a male, had two pathogenic mutations in compound heterozygosity in the TSPEAR gene (21q22.3); therefore they presented with ectodermal dysplasia type 14 (ECTD14). CONCLUSION: Clinical and molecular genetic analysis may set an accurate diagnosis of different types of ED. In the reported families, genetic diagnosis and genetic counselling assisted the parents to view their children's condition realistically and to cooperate with the specialists who will contribute to the best possible treatment for their children.

Human Breast Milk Omics and Neurodevelopment.

Breast milk is the ideal food for the premature and mature babies and has undoubtedly immediate and ultimate benefits. Among other things, it protects against infections, reduces the risk of necrotizing enterocolitis and retinopathy of the premature babies, improves neurodevelopmental outcome, and reduces the risk of obesity and metabolic syndrome later in life. In the present study, breast milk will be studied with all the available omics technologies. More specifically, functional genomics, comparative genomics, transcriptomics, sequencing, proteomics, and metabolomics will be performed. The above results and this multidimensional information will be coordinated under the framework of a holistic approach of systems biology and bioinformatic analysis. Important IncRNAs and protein molecules will be validated as candidate biomarkers in exosomes of a larger group of breast milk and blood/serum samples. Validated ncRNAs/proteins will be analyzed in exudates of breast milk and bovine, goat, and sheep milk to explore new ways to improve milk synthesis. Expression of ncRNAs, unlike mRNAs, is a direct indicator of their functional presence. The information to be generated in this study will be analyzed by mining and data combining techniques and algorithms. After defining breast milk molecular fingerprinting, an attempt will be made to enhance the commercial product. The benefits of breast milk are attributed to its various components, including nutrients, hormones, growth factors, immune cells, antibodies, cytokines, antimicrobial peptides, and extracellular vesicles.