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Human Reproduction Update Jul 2023Regulated cell death is a fundamental component of numerous physiological processes; spanning from organogenesis in utero, to normal cell turnover during adulthood, as... (Review)
Review
BACKGROUND
Regulated cell death is a fundamental component of numerous physiological processes; spanning from organogenesis in utero, to normal cell turnover during adulthood, as well as the elimination of infected or damaged cells throughout life. Quality control through regulation of cell death pathways is particularly important in the germline, which is responsible for the generation of offspring. Women are born with their entire supply of germ cells, housed in functional units known as follicles. Follicles contain an oocyte, as well as specialized somatic granulosa cells essential for oocyte survival. Follicle loss-via regulated cell death-occurs throughout follicle development and life, and can be accelerated following exposure to various environmental and lifestyle factors. It is thought that the elimination of damaged follicles is necessary to ensure that only the best quality oocytes are available for reproduction.
OBJECTIVE AND RATIONALE
Understanding the precise factors involved in triggering and executing follicle death is crucial to uncovering how follicle endowment is initially determined, as well as how follicle number is maintained throughout puberty, reproductive life, and ovarian ageing in women. Apoptosis is established as essential for ovarian homeostasis at all stages of development and life. However, involvement of other cell death pathways in the ovary is less established. This review aims to summarize the most recent literature on cell death regulators in the ovary, with a particular focus on non-apoptotic pathways and their functions throughout the discrete stages of ovarian development and reproductive life.
SEARCH METHODS
Comprehensive literature searches were carried out using PubMed and Google Scholar for human, animal, and cellular studies published until August 2022 using the following search terms: oogenesis, follicle formation, follicle atresia, oocyte loss, oocyte apoptosis, regulated cell death in the ovary, non-apoptotic cell death in the ovary, premature ovarian insufficiency, primordial follicles, oocyte quality control, granulosa cell death, autophagy in the ovary, autophagy in oocytes, necroptosis in the ovary, necroptosis in oocytes, pyroptosis in the ovary, pyroptosis in oocytes, parthanatos in the ovary, and parthanatos in oocytes.
OUTCOMES
Numerous regulated cell death pathways operate in mammalian cells, including apoptosis, autophagic cell death, necroptosis, and pyroptosis. However, our understanding of the distinct cell death mediators in each ovarian cell type and follicle class across the different stages of life remains the source of ongoing investigation. Here, we highlight recent evidence for the contribution of non-apoptotic pathways to ovarian development and function. In particular, we discuss the involvement of autophagy during follicle formation and the role of autophagic cell death, necroptosis, pyroptosis, and parthanatos during follicle atresia, particularly in response to physiological stressors (e.g. oxidative stress).
WIDER IMPLICATIONS
Improved knowledge of the roles of each regulated cell death pathway in the ovary is vital for understanding ovarian development, as well as maintenance of ovarian function throughout the lifespan. This information is pertinent not only to our understanding of endocrine health, reproductive health, and fertility in women but also to enable identification of novel fertility preservation targets.
Topics: Adult; Animals; Female; Humans; Apoptosis; Granulosa Cells; Mammals; Oocytes; Ovarian Follicle; Ovary; Regulated Cell Death; Homeostasis
PubMed: 36857094
DOI: 10.1093/humupd/dmad005 -
Neurological Sciences : Official... Sep 2023Mutations in FDXR gene, involved in mitochondrial pathway, cause a rare recessive neurological disorder with variable severity of phenotypes. The most common... (Review)
Review
BACKGROUND AND AIMS
Mutations in FDXR gene, involved in mitochondrial pathway, cause a rare recessive neurological disorder with variable severity of phenotypes. The most common presentation includes optic and/or auditory neuropathy, variably associated to developmental delay or regression, global hypotonia, pyramidal, cerebellar signs, and seizures. The review of clinical findings in previously described cases from literature reveals also a significant incidence of sensorimotor peripheral polyneuropathy (22.72%) and ataxia (43.18%). To date, 44 patients with FDXR mutations have been reported. We describe here on two new patients, siblings, who presented with a quite different phenotype compared to previously described patients.
METHODS
Clinical, neurophysiological, and genetic features of two siblings and a systematic literature review focused on the clinical spectrum of the disease are described.
RESULTS
Both patients presented with an acute-sub-acute onset of peripheral neuropathy and only in later stages of the disease developed the typical features of FDXR-associated disease.
INTERPRETATION
The peculiar clinical presentation at onset and the evolution of the disease in our patients and in some cases revised from the literature shed lights on a new possible phenotype of FDXR-associated disease: a peripheral neuropathy which can mimic an acute inflammatory disease.
Topics: Humans; Ataxia; Cerebellar Ataxia; Diagnosis, Differential; Mutation; Peripheral Nervous System Diseases; Phenotype; Ferredoxin-NADP Reductase
PubMed: 37046037
DOI: 10.1007/s10072-023-06790-0 -
American Journal of Lifestyle Medicine 2023This systematic review addresses the effects of -3 long-chain polyunsaturated fatty acids consumption on human neurodevelopment. It evaluates articles published between... (Review)
Review
INTRODUCTION
This systematic review addresses the effects of -3 long-chain polyunsaturated fatty acids consumption on human neurodevelopment. It evaluates articles published between 2000 and 2022 investigating the cognitive outcomes during the period of neurodevelopment: from fetal development to adolescence. For the purpose of this review the terms LC PUFA and omega-3 fatty acid will be used interchangeably.
METHOD
Data were sourced from several major databases including PubMed (MEDLINE), Web of Science, and ProQuest Central. Randomized controlled trials (RCTs), nonrandomized controlled trials, prospective or retrospective cohort studies, and observational studies investigating the effects of omega-3 fatty acid consumption from dietary supplements, multiple-nutrient supplement, or food questionnaire on neurodevelopment were considered. Study population was separated in three developmental phases: (1) , (2) lactation/infancy, and (3) childhood/adolescence. Each article was evaluated for several key factors such as study type, type/dosage of PUFAs, number of subjects, length of intervention, participant age range, population characteristics, outcome measure (both primary/cognitive and secondary/other), results, conclusion, and confounding variables/limitations.
RESULTS
A total of 88 articles were included in the review, 69 RCTs and 19 longitudinal or observational studies. The results indicate equivocal effect of intervention, with some short-term benefits observed in the areas of visual attention, working memory, executive function, and communication. Omega-3 supplement might have a short-term positive impact on neurodevelopment in all three phases. Supplementation is recommended throughout life, rather than only during the earliest developmental stage.
PubMed: 37711355
DOI: 10.1177/15598276221116052 -
Human Reproduction Open 2023What is the existing empirical literature on the psychosocial health and wellbeing of the parents and offspring born at an advanced parental age (APA), defined as... (Review)
Review
STUDY QUESTION
What is the existing empirical literature on the psychosocial health and wellbeing of the parents and offspring born at an advanced parental age (APA), defined as 40 years onwards?
SUMMARY ANSWER
Although the studies show discrepancies in defining who is an APA parent and an imbalance in the empirical evidence for offspring, mothers, and fathers, there is a drive towards finding psychotic disorders and (neuro-)developmental disorders among the offspring; overall, the observed advantages and disadvantages are difficult to compare.
WHAT IS KNOWN ALREADY
In many societies, children are born to parents at advanced ages and there is rising attention in the literature towards the consequences of this trend.
STUDY DESIGN SIZE DURATION
The systematic search was conducted in six electronic databases (PubMed including Medline, Embase, Scopus, PsycInfo, CINAHL, and SocINDEX) and was limited to papers published between 2000 and 2021 and to English-language articles. Search terms used across all six electronic databases were: ('advanced parental age' OR 'advanced maternal age' OR 'advanced paternal age' OR 'advanced reproductive age' OR 'late parent*' OR 'late motherhood' OR 'late fatherhood') AND ('IVF' OR 'in vitro fertilization' OR 'in-vitro-fertilization' OR 'fertilization in vitro' OR 'ICSI' OR 'intracytoplasmic sperm injection' OR 'reproductive techn*' OR 'assisted reproductive technolog*' OR 'assisted reproduction' OR 'assisted conception' OR 'reproduction' OR 'conception' OR 'birth*' OR 'pregnan*') AND ('wellbeing' OR 'well-being' OR 'psycho-social' OR 'social' OR 'ethical' OR 'right to reproduce' OR 'justice' OR 'family functioning' OR 'parental competenc*' OR 'ageism' OR 'reproductive autonomy' OR 'outcome' OR 'risk*' OR 'benefit*').
PARTICIPANTS/MATERIALS SETTING METHODS
The included papers were empirical studies in English published between 2000 and 2021, where the study either examined the wellbeing and psychosocial health of parents and/or their children, or focused on parental competences of APA parents or on the functioning of families with APA parents. A quality assessment of the identified studies was performed with the QATSDD tool. Additionally, 20% of studies were double-checked at the data extraction and quality assessment stage to avoid bias. The variables sought were: the geographical location, the year of publication, the methodological approach, the definitions of APA used, what study group was at the centre of the research, what research topic was studied, and what advantages and disadvantages of APA were found.
MAIN RESULTS AND THE ROLE OF CHANCE
A total number of 5403 articles were identified, leading to 2543 articles being included for title and abstract screening after removal of duplicates. This resulted in 98 articles included for a full-text reading by four researchers. Ultimately, 69 studies were included in the final sample. The key results concerned four aspects relevant to the research goals. (i) The studies showed discrepancies in defining who is an APA parent. (ii) There was an imbalance in the empirical evidence produced for different participant groups (mothers, fathers, and offspring), with offspring being the most studied study subjects. (iii) The research topics studied underlined the increased risks of neuro-developmental and psychotic disorders among offspring. (iv) The observed advantages and disadvantages were varied and could not be compared, especially for the offspring of APA parents.
LIMITATIONS REASONS FOR CAUTION
Only English-language studies, published between 2000 and 2021, found in the above-mentioned databases were considered for this review.
WIDER IMPLICATIONS OF THE FINDINGS
More research is necessary to understand the risks and benefits of building a family at an APA for the offspring when they reach adulthood. Furthermore, studies that explore the perspective of older fathers and older parents from non-Western societies would be highly informative.
STUDY FUNDING/COMPETING INTERESTS
The writing of this manuscript was permitted by financial support provided by the Swiss National Science Foundation (Weave/Lead Agency funding program, grant number 10001AL_197415/1, project title 'Family Building at Advanced Parental Age: An Interdisciplinary Approach'). The funder had no role in the drafting of this manuscript and the views expressed therein are those of the authors. The authors have no conflicts of interest.
REGISTRATION NUMBER
This systematic review is registered in Prospero: CRD42022304564.
PubMed: 38045093
DOI: 10.1093/hropen/hoad042 -
The British Journal of Psychiatry : the... Jul 2023Early-onset psychosis (EOP) refers to the development of a first episode of psychosis before 18 years of age. Individuals at clinical high risk for psychosis (CHR-P)... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Early-onset psychosis (EOP) refers to the development of a first episode of psychosis before 18 years of age. Individuals at clinical high risk for psychosis (CHR-P) include adolescents and young adults, although most evidence has focused on adults. Negative symptoms are important prognostic indicators in psychosis. However, research focusing on children and adolescents is limited.
AIMS
To provide meta-analytical evidence and a comprehensive review of the status and advances in the diagnosis, prognosis and treatment of negative symptoms in children and adolescents with EOP and at CHR-P.
METHOD
PRISMA/MOOSE-compliant systematic review (PROSPERO: CRD42022360925) from inception to 18 August 2022, in any language, to identify individual studies conducted in EOP/CHR-P children and adolescents (mean age <18 years) providing findings on negative symptoms. Findings were systematically appraised. Random-effects meta-analyses were performed on the prevalence of negative symptoms, carrying out sensitivity analyses, heterogeneity analyses, publication bias assessment and quality assessment using the Newcastle-Ottawa Scale.
RESULTS
Of 3289 articles, 133 were included ( = 6776 EOP, mean age 15.3 years (s.d. = 1.6), males = 56.1%; = 2138 CHR-P, mean age 16.1 years (s.d. = 1.0), males = 48.6%). There were negative symptoms in 60.8% (95% CI 46.4%-75.2%) of the children and adolescents with EOP and 79.6% (95% CI 66.3-92.9%) of those at CHR-P. Prevalence and severity of negative symptoms were associated with poor clinical, functional and intervention outcomes in both groups. Different interventions were piloted, with variable results requiring further replication.
CONCLUSIONS
Negative symptoms are common in children and adolescents at early stages of psychosis, particularly in those at CHR-P, and are associated with poor outcomes. Future intervention research is required so that evidence-based treatments will become available.
Topics: Male; Humans; Child; Psychotic Disorders; Prognosis
PubMed: 37194556
DOI: 10.1192/bjp.2022.203 -
Nutrients Dec 2023In recent years, orthodontics, a specialized branch of dentistry, has evolved considerably in terms of both techniques and materials used. Aimed at correcting dental... (Review)
Review
In recent years, orthodontics, a specialized branch of dentistry, has evolved considerably in terms of both techniques and materials used. Aimed at correcting dental malocclusions and craniofacial anomalies, it improves the functionality and aesthetics of the face and oral cavity. However, orthodontic treatment, in its developmental stages, may induce oxidative stress (O.S.) phenomena, with an increase in the production of reactive oxygen species (ROS), damaging the dental and periodontal tissues involved, affecting the short-, medium- and long-term results. Studies on the antioxidant effects of natural products (e.g., resveratrol, green tea, turmeric, etc.) in the medical field have aroused considerable interest in recent years. A systematic literature review was conducted on the PubMed, Scopus, and Web of Science databases using natural products (N.P.s), O.S., and orthodontic as keywords. The study aims to consider the determinants of the increase in ROS occurring during orthodontic treatment and the possibility of natural products being able to control and neutralize biochemical phenomena by restoring the physiological process in which the balance between the production of ROS and the ability of the body's antioxidant system to neutralize them is in favor of the latter.
Topics: Reactive Oxygen Species; Biological Products; Oxidative Stress; Antioxidants; Curcuma
PubMed: 38201943
DOI: 10.3390/nu16010113 -
Nutrition Reviews Dec 2023Adolescence is a critical developmental stage in which increasing concerns about body image (BI) coincide with the consolidation of dietary habits (DHs). Multiple...
CONTEXT
Adolescence is a critical developmental stage in which increasing concerns about body image (BI) coincide with the consolidation of dietary habits (DHs). Multiple studies have sought robust associations between BI and DHs to prevent unhealthy behaviors.
OBJECTIVE
The aim of this systematic review was to examine the available literature on the association between BI perception (BIP) and/or satisfaction (BIS) and DHs in adolescents.
DATA SOURCES
A search was carried out of 5 electronic databases (PubMed, SciELO, Cochrane, Embase, and PsycInfo) using a combination of keywords (and synonyms) related to adolescence, BI, and diet.
DATA EXTRACTION
Data screening, extraction, and quality assessment were performed independently by 2 investigators using the PRISMA and AXIS guidelines.
DATA ANALYSIS
Of 2496 articles screened, 30 articles, published in English or Spanish, that evaluated the relationship between BI and DHs in adolescents aged between 10 years and 18 years, were included. A relationship between accurate BI perception in adolescents and healthy DHs was reported in 5 articles (16.2%). A relationship between overestimation of body weight in adolescents and healthy DHs was reported in 4 articles (13.3%). A relationship between underestimation of body weight and unhealthy DHs was reported in 8 articles (26.7%). In addition, 4 articles (13.3%) reported a relationship between BIS and healthy DHs. The desire to gain weight was associated with unhealthy DHs in 3 (10%) of the articles, while the desire to lose weight was related to healthy DHs in 3 (10%) of the articles and to unhealthy DHs in 3 (10%) other articles. There were also gender differences in the relationship between BIP or BIS and DHs.
CONCLUSION
Adolescents who underestimate their body weight tend to report less healthy DHs than body weight overestimators. Adolescents unsatisfied with their BI and with a drive for thinness frequently engage in DHs linked to losing weight.
SYSTEMATIC REVIEW REGISTRATION
PROSPERO registration no. CRD42020184625.
Topics: Humans; Adolescent; Child; Body Image; Thinness; Diet; Health Status; Feeding Behavior
PubMed: 37155836
DOI: 10.1093/nutrit/nuad044 -
Children (Basel, Switzerland) Oct 2023This study examines the last 10 years of medical literature on the benefits of cochlear implantation in children who are deaf or hard of hearing (DHH) with additional... (Review)
Review
This study examines the last 10 years of medical literature on the benefits of cochlear implantation in children who are deaf or hard of hearing (DHH) with additional disabilities. The most recent literature concerning cochlear implants (CIs) in DHH children with additional disabilities was systematically explored through PubMed, Embase, Scopus, PsycINFO, and Web of Science from January 2012 to July 2023. Our two-stage search strategy selected a total of 61 articles concerning CI implantation in children with several forms of additional disabilities: autism spectrum disorder, cerebral palsy, visual impairment, motor disorders, developmental delay, genetic syndromes, and intellectual disability. Overall, many children with additional disabilities benefit from CIs by acquiring greater environmental sound awareness. This, in turn, improves non-verbal communication and adaptive skills, with greater possibilities to relate to others and to be connected with the environment. Instead, despite some improvement, expressive language tends to develop more slowly and to a lesser extent compared to children affected by hearing loss only. Further studies are needed to better appreciate the specificities of each single disability and to personalize interventions, not restricting the analysis to auditory and language skills, but rather applying or developing cross-culturally validated instruments able to reliably assess the developmental trajectory and the quality of life of DHH children with additional disabilities before and after CI.
PubMed: 37892316
DOI: 10.3390/children10101653 -
Pharmacology & Therapeutics Apr 2024Melanoma is the most aggressive form of skin cancer, representing approximately 4% of all cutaneous neoplasms and accounting for up to 80% of deaths. Advanced stages of... (Review)
Review
Melanoma is the most aggressive form of skin cancer, representing approximately 4% of all cutaneous neoplasms and accounting for up to 80% of deaths. Advanced stages of melanoma involve metastatic processes and are associated with high mortality and morbidity, mainly due to the rapid dissemination and heterogeneous responses to current therapies, including immunotherapy. Immune checkpoint inhibitors (ICIs) are currently used in the treatment of metastatic melanoma (MM) and despite being linked to an increase in patient survival, a high percentage of them still do not benefit from it. Accordingly, the number of therapeutic regimens for MM patients using ICIs either alone or in combination with other therapies has increased, together with the need for reliable biomarkers that can both predict and monitor response to ICIs. In this context, circulating biomarkers, such as DNA, RNA, proteins, and cells, have emerged due to their ability to reflect disease status. Moreover, blood tests are minimally invasive and provide an attractive option to detect biomarkers, avoiding stressful medical procedures. This systematic review aims to evaluate the possibility of a non-invasive biomarker signature that can guide therapeutic decisions. The studies reported here offer valuable insight into how circulating biomarkers can have a role in personalized treatments for melanoma patients receiving ICIs therapy, emphasizing the need for rigorous clinical trials to confirm findings and establish standardized procedures.
Topics: Humans; Melanoma; Skin Neoplasms; Immunotherapy; Biomarkers
PubMed: 38367867
DOI: 10.1016/j.pharmthera.2024.108613 -
Public Health Nutrition Dec 2023Aligning with the United Nations Convention on the Rights of the Child, amplification of children's voice in food practice research aims to inform initiatives that cater... (Review)
Review
OBJECTIVE
Aligning with the United Nations Convention on the Rights of the Child, amplification of children's voice in food practice research aims to inform initiatives that cater to children's needs and thus improve nutritional outcomes. The aim of this study was to describe children's (aged 6-11 years) involvement across qualitative research investigating their food practice perspectives.
DESIGN
A scoping review was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses for Scoping Reviews (PRISMA-ScR). Six electronic databases were searched up until March 2023 (Cochrane, CINAHL, Embase, ERIC, Medline and PsychInfo). The Wellcome Framework for young people's involvement in health research guided data extraction. Data were described according to inclusiveness, geography, food-related study topic, research stage and method, and child involvement.
RESULTS
The search identified 120 peer-reviewed studies (134 papers). Active participation was only seen within research implementation stages (i.e. data collection ( 134), analysis ( 31), dissemination ( 9) and re-design ( 7)). More passive forms of participation were identified in research design stages (i.e. agenda setting, resourcing and design). Studies that utilised participatory research methodologies and developmentally appropriate and engaging methods (e.g. PhotoVoice) saw more active participation by children.
CONCLUSION
This review identified a lack of opportunities for children's active participation in all stages of food practice research. Without a radical shift towards providing these opportunities, food and nutrition initiatives, policies or further research that do not meet the needs of children's food-related worlds will continue to be developed. Instead, researchers and their institutions need to advocate for and, where possible, provide voluntary opportunities for children to actively participate in food practice research.
Topics: Child; Humans; Adolescent; Food; Qualitative Research
PubMed: 37746758
DOI: 10.1017/S1368980023001891