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Acta Psychiatrica Scandinavica Aug 2023Genetic studies of bipolar disorder (BD) have shown varied results, which is in part because of the heterogeneity of the disorder. Identifying clinical phenotypes of BD... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Genetic studies of bipolar disorder (BD) have shown varied results, which is in part because of the heterogeneity of the disorder. Identifying clinical phenotypes of BD could reduce variability and benefit research. Since BD has a robust genetic component, studies can investigate clinical traits that cluster in families to identify phenotypes with a probable genetic basis.
METHODS
We conducted a systematic review of the current literature on familial clinical traits of BD. Text screening and data extraction were performed independently by two reviewers, and random effects meta-analysis was used.
RESULTS
Of 1117 unique records, 16 studies met inclusion criteria. These studies indicated 14 potentially familial traits of BD: age of onset (OR: 4.50; 95% CI: [3.25, 6.22]), bipolar type (OR: 2.05 [1.50, 2.79]), lithium response (OR: 3.71 [1.28, 10.82]), polarity at onset (OR: 1.17 [1.03, 1.34]), psychotic features (OR: 2.20 [1.51, 3.20]), mood-incongruent psychosis (OR: 2.52 [1.66, 3.83]), puerperal psychosis (OR: 6.54 [2.55, 16.77]), rapid cycling (OR: 4.95 [0.96, 25.40]), suicide attempt (OR: 1.04 [0.65, 1.67]), alcoholism (OR: 1.53 [1.09, 2.16]), obsessive-compulsive disorder (OR: 3.10 [1.31; 7.09]), panic disorder (OR: 2.69 [1.12; 6.48]), social anxiety disorder (OR: 1.00 [0.39, 2.55]), and specific phobia (OR: 1.94 [0.95; 3.96]). For most traits, tests of heterogeneity were significant and publication bias was likely.
CONCLUSION
The results of our review and meta-analysis highlight the lack of studies investigating familial clinical traits of BD, despite the need to address heterogeneity. The large degree of variability between studies must be reduced for future research.
Topics: Humans; Bipolar Disorder; Phenotype; Psychotic Disorders; Obsessive-Compulsive Disorder; Panic Disorder
PubMed: 37190775
DOI: 10.1111/acps.13569 -
International Journal of Molecular... Apr 2023Subarachnoid hemorrhage (SAH) represents a severe acute event with high morbidity and mortality due to the development of early brain injury (EBI), secondary delayed... (Review)
Review
Subarachnoid hemorrhage (SAH) represents a severe acute event with high morbidity and mortality due to the development of early brain injury (EBI), secondary delayed cerebral ischemia (DCI), and shunt-related hydrocephalus. Secondary events (SSE) such as neuroinflammation, vasospasm, excitotoxicity, blood-brain barrier disruption, oxidative cascade, and neuronal apoptosis are related to DCI. Despite improvement in management strategies and therapeutic protocols, surviving patients frequently present neurological deficits with neurocognitive impairment. The aim of this paper is to offer to clinicians a practical review of the actually documented pathophysiological events following subarachnoid hemorrhage. To reach our goal we performed a literature review analyzing reported studies regarding the mediators involved in the pathophysiological events following SAH occurring in the cerebrospinal fluid (CSF) (hemoglobin degradation products, platelets, complement, cytokines, chemokines, leucocytes, endothelin-1, NO-synthase, osteopontin, matricellular proteins, blood-brain barrier disruption, microglia polarization). The cascade of pathophysiological events secondary to SAH is very complex and involves several interconnected, but also distinct pathways. The identification of single therapeutical targets or specific pharmacological agents may be a limited strategy able to block only selective pathophysiological paths, but not the global evolution of SAH-related events. We report furthermore on the role of heparin in SAH management and discuss the rationale for use of intrathecal heparin as a pleiotropic therapeutical agent. The combination of the anticoagulant effect and the ability to interfere with SSE theoretically make heparin a very interesting molecule for SAH management.
Topics: Humans; Heparin; Subarachnoid Hemorrhage; Vasospasm, Intracranial; Cerebral Infarction; Brain Ischemia
PubMed: 37175544
DOI: 10.3390/ijms24097832 -
Clinical Anatomy (New York, N.Y.) Nov 2023The aim of this study was to review the literature on the posterior gastric artery, estimate its prevalence and summarize its reported origins. The databases Pubmed,... (Meta-Analysis)
Meta-Analysis Review
The aim of this study was to review the literature on the posterior gastric artery, estimate its prevalence and summarize its reported origins. The databases Pubmed, Scopus, Web of Science and Google Scholar were searched to find all studies describing the prevalence and origin of the posterior gastric artery. Pooled prevalences were estimated using a random effects model. Thirty-eight studies with a total of 3366 subjects were included in the analysis. The overall prevalence of the posterior gastric artery was 57.4% (95% CI = 49.1%-65.7%). The prevalence of the posterior gastric artery was significantly higher in surgical studies than in cadaveric and angiographic studies. There were no differences in prevalence between multi-detector computed tomography studies and cadaveric studies, nor were there differences when comparing geographical location or study size. Origin data were extracted from 34 studies, with a total of 1533 cases. The posterior gastric artery arose as a single vessel from the splenic artery in 1160 cases (pooled prevalence 86.5% [95% CI = 78.5%-94.7%]), from the superior polar splenic artery in 339 cases (pooled prevalence 11.8% [95% CI = 3.7%-19.9%]) and from other origins in 50 cases (pooled prevalence 0.27% [95% CI = 0.00-0.71%]). The posterior gastric artery is present in 57.4% of cases and most commonly arises from the splenic artery. It should be identified before gastric resections as it may be an important source of blood to the gastric stump. Multi-detector computed tomography has sufficient sensitivity to detect it before surgery.
Topics: Humans; Splenic Artery; Gastric Artery; Gastrectomy; Multidetector Computed Tomography; Cadaver; Prevalence
PubMed: 37096869
DOI: 10.1002/ca.24051 -
Frontiers in Immunology 2023Gout arthritis (GA) is a common and curable type of inflammatory arthritis that has been attributed to a combination of genetic, environmental and metabolic factors.... (Review)
Review
Gout arthritis (GA) is a common and curable type of inflammatory arthritis that has been attributed to a combination of genetic, environmental and metabolic factors. Chronic deposition of monosodium urate (MSU) crystals in articular and periarticular spaces as well as subsequent activation of innate immune system in the condition of persistent hyperuricemia are the core mechanisms of GA. As is well known, drugs for GA therapy primarily consists of rapidly acting anti-inflammatory agents and life-long uric acid lowering agents, and their therapeutic outcomes are far from satisfactory. Although MSU crystals in articular cartilage detected by arthrosonography or in synovial fluid found by polarization microscopy are conclusive proofs for GA, the exact molecular mechanism of NLRP3 inflammasome activation in the course of GA still remains mysterious, severely restricting the early diagnosis and therapy of GA. On the one hand, the activation of Nod-like receptor family, pyrin domain containing 3 (NLRP3) inflammasome requires nuclear factor kappa B (NF-κB)-dependent transcriptional enhancement of NLRP3, precursor (pro)-caspase-1 and pro-IL-1β, as well as the assembly of NLRP3 inflammasome complex and sustained release of inflammatory mediators and cytokines such as IL-1β, IL-18 and caspase-1. On the other hand, NLRP3 inflammasome activated by MSU crystals is particularly relevant to the initiation and progression of GA, and thus may represent a prospective diagnostic biomarker and therapeutic target. As a result, pharmacological inhibition of the assembly and activation of NLRP3 inflammasome may also be a promising avenue for GA therapy. Herein, we first introduced the functional role of NLRP3 inflammasome activation and relevant biological mechanisms in GA based on currently available evidence. Then, we systematically reviewed therapeutic strategies for targeting NLRP3 by potentially effective agents such as natural products, novel compounds and noncoding RNAs (ncRNAs) in the treatment of MSU-induced GA mouse models. In conclusion, our present review may have significant implications for the pathogenesis, diagnosis and therapy of GA.
Topics: Humans; Animals; NLR Family, Pyrin Domain-Containing 3 Protein; Arthritis, Gouty; Inflammasomes; Polymorphism, Genetic; Genetic Predisposition to Disease; Cytokines
PubMed: 37051231
DOI: 10.3389/fimmu.2023.1137822 -
Frontiers in Cardiovascular Medicine 2023Cold exposure has been considered an essential risk factor for the global disease burden, while its role in cardiovascular diseases is still underappreciated. The... (Review)
Review
BACKGROUND
Cold exposure has been considered an essential risk factor for the global disease burden, while its role in cardiovascular diseases is still underappreciated. The increase in frequency and duration of extreme cold weather events like cold spells makes it an urgent task to evaluate the effects of ambient cold on different types of cardiovascular disease and to understand the factors contributing to the population's vulnerability.
METHODS
In the present systematic review and meta-analysis, we searched PubMed, Scopus, and Cochrane. We included original research that explored the association between cold exposure (low temperature and cold spell) and cardiovascular disease outcomes (mortality and morbidity). We did a random-effects meta-analysis to pool the relative risk (RR) of the association between a 1°C decrease in temperature or cold spells and cardiovascular disease outcomes.
RESULTS
In total, we included 159 studies in the meta-analysis. As a result, every 1°C decrease in temperature increased cardiovascular disease-related mortality by 1.6% (RR 1.016; [95% CI 1.015-1.018]) and morbidity by 1.2% (RR 1.012; [95% CI 1.010-1.014]). The most pronounced effects of low temperatures were observed in the mortality of coronary heart disease (RR 1.015; [95% CI 1.011-1.019]) and the morbidity of aortic aneurysm and dissection (RR 1.026; [95% CI 1.021-1.031]), while the effects were not significant in hypertensive disease outcomes. Notably, we identified climate zone, country income level and age as crucial influential factors in the impact of ambient cold exposure on cardiovascular disease. Moreover, the impact of cold spells on cardiovascular disease outcomes is significant, which increased mortality by 32.4% (RR 1.324; [95% CI 1.2341.421]) and morbidity by 13.8% (RR 1.138; [95% CI 1.015-1.276]).
CONCLUSION
Cold exposure could be a critical risk factor for cardiovascular diseases, and the cold effect varies between disease types and climate zones.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/PROSPERO, identifier: CRD42022347247.
PubMed: 37051068
DOI: 10.3389/fcvm.2023.1084611 -
BMC Medical Genomics Apr 2023Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane structural protein (wolframin), is essential for several biological processes, including proper inner...
BACKGROUND
Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane structural protein (wolframin), is essential for several biological processes, including proper inner ear function. Unlike the recessively inherited Wolfram syndrome, WFS1 heterozygous variants cause DFNA6/14/38 and wolfram-like syndrome, characterized by autosomal dominant nonsyndromic hearing loss, optic atrophy, and diabetes mellitus. Here, we identified two WFS1 heterozygous variants in three DFNA6/14/38 families using exome sequencing. We reveal the pathogenicity of the WFS1 variants based on three-dimensional (3D) modeling and structural analysis. Furthermore, we present cochlear implantation (CI) outcomes in WFS1-associated DFNA6/14/38 and suggest a genotype-phenotype correlation based on our results and a systematic review.
METHODS
We performed molecular genetic test and evaluated clinical phenotypes of three WFS1-associated DFNA6/14/38 families. A putative WFS1-NCS1 interaction model was generated, and the impacts of WFS1 variants on stability were predicted by comparing intramolecular interactions. A total of 62 WFS1 variants associated with DFNA6/14/38 were included in a systematic review.
RESULTS
One variant is a known mutational hotspot variant in the endoplasmic reticulum (ER)-luminal domain WFS1(NM_006005.3) (c.2051 C > T:p.Ala684Val), and the other is a novel frameshift variant in transmembrane domain 6 (c.1544_1545insA:p.Phe515LeufsTer28). The two variants were pathogenic, based on the ACMG/AMP guidelines. Three-dimensional modeling and structural analysis show that non-polar, hydrophobic substitution of Ala684 (p.Ala684Val) destabilizes the alpha helix and contributes to the loss of WFS1-NCS1 interaction. Also, the p.Phe515LeufsTer28 variant truncates transmembrane domain 7-9 and the ER-luminal domain, possibly impairing membrane localization and C-terminal signal transduction. The systematic review demonstrates favorable outcomes of CI. Remarkably, p.Ala684Val in WFS1 is associated with early-onset severe-to-profound deafness, revealing a strong candidate variant for CI.
CONCLUSIONS
We expanded the genotypic spectrum of WFS1 heterozygous variants underlying DFNA6/14/38 and revealed the pathogenicity of mutant WFS1, providing a theoretical basis for WFS1-NCS1 interactions. We presented a range of phenotypic traits for WFS1 heterozygous variants and demonstrated favorable functional CI outcomes, proposing p.Ala684Val a strong potential marker for CI candidates.
Topics: Humans; Wolfram Syndrome; Cochlear Implants; Cochlear Implantation; Pedigree; Hearing Loss; Deafness
PubMed: 37041640
DOI: 10.1186/s12920-023-01506-x -
Frontiers in Plant Science 2023In the last three decades, quantitative approaches that rely on organism traits instead of taxonomy have advanced different fields of ecological research through...
In the last three decades, quantitative approaches that rely on organism traits instead of taxonomy have advanced different fields of ecological research through establishing the mechanistic links between environmental drivers, functional traits, and ecosystem functions. A research subfield where trait-based approaches have been frequently used but poorly synthesized is the ecology of seagrasses; marine angiosperms that colonized the ocean 100M YA and today make up productive yet threatened coastal ecosystems globally. Here, we compiled a comprehensive trait-based response-effect framework (TBF) which builds on previous concepts and ideas, including the use of traits for the study of community assembly processes, from dispersal and response to abiotic and biotic factors, to ecosystem function and service provision. We then apply this framework to the global seagrass literature, using a systematic review to identify the strengths, gaps, and opportunities of the field. Seagrass trait research has mostly focused on the effect of environmental drivers on traits, i.e., "environmental filtering" (72%), whereas links between traits and functions are less common (26.9%). Despite the richness of trait-based data available, concepts related to TBFs are rare in the seagrass literature (15% of studies), including the relative importance of neutral and niche assembly processes, or the influence of trait dominance or complementarity in ecosystem function provision. These knowledge gaps indicate ample potential for further research, highlighting the need to understand the links between the unique traits of seagrasses and the ecosystem services they provide.
PubMed: 37021321
DOI: 10.3389/fpls.2023.1088643 -
Clinical and Experimental Dental... Jun 2023Macrophages are among the first cells to interact with the dental implant surface and are critical regulators for controlling the immune response toward biomaterials.... (Review)
Review
A systematic review comparing the macrophage inflammatory response to hydrophobic and hydrophilic sandblasted large grit, acid-etched titanium or titanium-zirconium surfaces during in vitro studies.
OBJECTIVES
Macrophages are among the first cells to interact with the dental implant surface and are critical regulators for controlling the immune response toward biomaterials. Macrophages can polarize between two main phenotypes: proinflammatory M1 macrophages and anti-inflammatory M2 macrophages. This systematic review aims to determine if a differing macrophage inflammatory response exists on hydrophilic sandblasted large grit, acid-etched (SLActive) surfaces compared to sandblasted large grit, acid-etched (SLA) titanium or titanium-zirconium surfaces during in vitro studies. MATERIAL AND METHODS: A systematic search of three electronic databases, Medline, DOSS (Dentistry and Oral Sciences Source), and WoS (Web of Science), was performed. Only in vitro studies were included in this systematic review. The electronic search was supplemented with a search of the references. Genetic expression and production of proinflammatory and anti-inflammatory proteins were assessed. The synthesis of quantitative data was completed by narrative synthesis.
RESULTS
A total of 906 studies were found with the systematic search. Eight studies remained after the application of inclusion and exclusion criteria. Six studies used murine macrophages, while two used human macrophages. Discs were used in six studies, while dental implants were used in the remaining two studies. Genetic expression and cytokine production of proinflammatory cytokines on SLActive surfaces were reduced compared to SLA. Anti-inflammatory genetic expression and cytokine production was increased on SLActive surfaces. The overall quality of the included studies was low to moderate.
CONCLUSIONS
SLActive surfaces modulate macrophages to reduce proinflammatory and increase anti-inflammatory gene expression and cytokine production compared to SLA surfaces. The in vitro nature of the included studies does not replicate the in vivo healing cascade. Further in vivo studies are required to assess the macrophage response toward SLActive implant surfaces compared to SLA surfaces.
Topics: Mice; Humans; Animals; Dental Implants; Titanium; Zirconium; Surface Properties; Macrophages; Cytokines; Anti-Inflammatory Agents
PubMed: 36991526
DOI: 10.1002/cre2.730 -
Role of Microbes in the degradation of organic semivolatile compounds in polar ecosystems: A review.The Science of the Total Environment Jun 2023The Arctic and the Antarctic Continent correspond to two eco-regions with extreme climatic conditions. These regions are exposed to the presence of contaminants... (Review)
Review
The Arctic and the Antarctic Continent correspond to two eco-regions with extreme climatic conditions. These regions are exposed to the presence of contaminants resulting from human activity (local and global), which, in turn, represent a challenge for life forms in these environments. Anthropogenic pollution by semi-volatile organic compounds (SVOCs) in polar ecosystems has been documented since the 1960s. Currently, various studies have shown the presence of SVOCs and their bioaccumulation and biomagnification in the polar regions with negative effects on biodiversity and the ecosystem. Although the production and use of these compounds has been regulated, their persistence continues to threaten biodiversity and the ecosystem. Here, we summarize the current literature regarding microbes and SVOCs in polar regions and pose that bioremediation by native microorganisms is a feasible strategy to mitigate the presence of SVOCs. Our systematic review revealed that microbial communities in polar environments represent a wide reservoir of biodiversity adapted to extreme conditions, found both in terrestrial and aquatic environments, freely or in association with vegetation. Microorganisms adapted to these environments have the potential for biodegradation of SVOCs through a variety of genes encoding enzymes with the capacity to metabolize SVOCs. We suggest that a comprehensive approach at the molecular and ecological level is required to mitigate SVOCs presence in these regions. This is especially patent when considering that SVOCs degrade at slow rates and possess the ability to accumulate in polar ecosystems. The implications of SVOC degradation are relevant for the preservation of polar ecosystems with consequences at a global level.
Topics: Humans; Ecosystem; Biodiversity; Environmental Pollution; Volatile Organic Compounds; Bioaccumulation; Polycyclic Aromatic Hydrocarbons
PubMed: 36965736
DOI: 10.1016/j.scitotenv.2023.163046 -
Journal of Orthopaedic Surgery and... Mar 2023Immune-mediated conditions associated to Corona Virus Disease-19 (COVID-19) have been reported, including vasculitis, antiphospholipid antibody syndrome, myositis, and... (Review)
Review
BACKGROUND
Immune-mediated conditions associated to Corona Virus Disease-19 (COVID-19) have been reported, including vasculitis, antiphospholipid antibody syndrome, myositis, and lupus. Emerging studies have reported the potential occurrence of reactive arthritis in patients previously infected with COVID-19. This systematic review summarised the current evidence on the occurrence of reactive arthritis in patients previously infected by COVID-19.
METHODS
This study was conducted according to the 2020 PRISMA guidelines. All the clinical investigations describing the occurrence of reactive arthritis following COVID-19 were accessed. In September 2022, the following databases were accessed: PubMed, Web of Science, Google Scholar, Embase. The generalities of the study were extracted: author, year and journal of publication, country of the main author, study design, sample size, mean age, number of women, main results of the study. The following data on COVID-19 severity and management were retrieved: type of treatment, hospitalization regimes (inpatient or outpatient), admission to the intensive care unit, need of mechanical ventilation, pharmacological management. The following data on reactive arthritis were collected: time elapsed between COVID-19 infection to the onset of reactive arthritis symptoms (days), pharmacological management, type of arthritis (mono- or bilateral, mono- or polyarticular), extra-articular manifestations, presence of tenosynovitis or enthesitis, synovial examination at microscopic polarised light, imaging (radiography, magnetic resonance, sonography), clinical examination, laboratory findings.
RESULTS
Data from 27 case reports (54 patients) were retrieved, with a mean age of 49.8 ± 14.5 years. 54% (29 of 54 patients) were women. The mean time span between COVID-19 infection and the occurrence of reactive arthritis symptoms was 22.3 ± 10.7 days. Between studies diagnosis and management of reactive arthritis were heterogeneous. Symptoms resolved within few days in all studies considered. At last follow-up, all patients were minimally symptomatic or asymptomatic, and no additional therapy or attentions were required by any patient.
CONCLUSION
Poor evidence suggests that COVID-19 could target the musculoskeletal system causing reactive arthritis at its post infectious stage. COVID-19 can act as a causative agent or as a trigger for development of reactive arthritis even without presence of antibodies of rheumatological disorders. Treating physicians should have a high index of suspicion while treating post infectious COVID-19 patient with arthralgia.
LEVEL OF EVIDENCE
Level IV, systematic review.
Topics: Humans; Female; Adult; Middle Aged; Male; COVID-19; SARS-CoV-2; Arthritis, Reactive; Inpatients; Antibodies; COVID-19 Testing
PubMed: 36922870
DOI: 10.1186/s13018-023-03651-6