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Brain Sciences Jun 2023Around the world, more the 700,000 individuals die by suicide every year. It is necessary to understand the mechanisms associated with suicidal behavior. Recently, an... (Review)
Review
Around the world, more the 700,000 individuals die by suicide every year. It is necessary to understand the mechanisms associated with suicidal behavior. Recently, an increase in gene expression studies has been in development. Through a systematic review, we aimed to find a candidate gene in gene expression studies on postmortem brains of suicide completers. Databases were systematically searched for published studies. We performed an online search using PubMed, Scopus and Web of Science databases to search studies up until May 2023. The terms included were "gene expression", "expressed genes", "microarray", "qRT-PCR", "brain samples" and "suicide". Our systematic review included 59 studies covering the analysis of 1450 brain tissues from individuals who died by suicide. The majority of gene expression profiles were obtained of the prefrontal cortex, anterior cingulate cortex, dorsolateral prefrontal cortex, ventral prefrontal cortex and orbital frontal cortex area. The most studied mRNAs came of genes in glutamate, γ-amino-butyric acid and polyamine systems. mRNAs of genes in the brain-derived neurotrophic factor, tropomyosin-related kinase B (TrkB), HPA axis and chemokine family were also studied. On the other hand, psychiatric comorbidities indicate that suicide by violent death can alter the profile of mRNA expression.
PubMed: 37371384
DOI: 10.3390/brainsci13060906 -
Molecular Nutrition & Food Research Jan 2018The expected future demand for food and animal-derived protein will require environment-friendly novel food sources with high nutritional value. Insects may be one of...
The expected future demand for food and animal-derived protein will require environment-friendly novel food sources with high nutritional value. Insects may be one of such novel food sources. However, there needs to be an assessment of the risks associated with their consumption, including allergic risks. Therefore, we performed a systematic review aiming to analyse current data available regarding the allergic risks of consuming insects. We reviewed all reported cases of food allergy to insects, and studied the possibility of cross-reactivity and co-sensitisation between edible insects, crustaceans and house dust mites. We analysed a total of 25 articles - eight assessing the cross-reactivity/co-sensitisation between edible insects, crustaceans and house dust mites; three characterizing allergens in edible insects and 14 case reports, describing case series or prevalence studies of food allergy caused by insects. Cross-reactivity/co-sensitisation between edible insects and crustaceans seems to be clinically relevant, while it is still unknown if co-sensitisation between house dust mites and edible insects can lead to a food allergy. Additionally, more information is also needed about the molecular mechanisms underlying food allergy to insects, although current data suggest that an important role is played by arthropod pan-allergens such as tropomyosin or arginine kinase.
Topics: Animals; Cross Reactions; Crustacea; Food Hypersensitivity; Humans; Immunoglobulin E; Insecta; Mites; Risk; Tropomyosin
PubMed: 28654197
DOI: 10.1002/mnfr.201700030 -
Journal of Orthopaedic Surgery and... Aug 2018Also known as clubfoot, idiopathic congenital talipes equinovarus (ICTEV) is the most common pediatric deformity and occurs in 1 in every 1000 live births. Even though...
BACKGROUND
Also known as clubfoot, idiopathic congenital talipes equinovarus (ICTEV) is the most common pediatric deformity and occurs in 1 in every 1000 live births. Even though it has been widely researched, the etiology of ICTEV remains poorly understood and is often described as being based on a multifactorial genesis. Genetic and environmental factors seem to have a major role in the development of this disease. Thus, the aim of this review is to analyze the available literature to document the current evidence on ICTEV etiology.
METHODS
The literature on ICTEV etiology was systematically reviewed using the following inclusion criteria: studies of any level of evidence, reporting clinical or preclinical results, published in the last 20 years (1998-2018), and dealing with the etiology of ICTEV.
RESULTS
A total of 48 articles were included. ICTEV etiology is still controversial. Several hypotheses have been researched, but none of them are decisive. Emerging evidence suggests a role of several pathways and gene families associated with limb development (HOX family; PITX1-TBX4), the apoptotic pathway (caspases), and muscle contractile protein (troponin and tropomyosin), but a major candidate gene has still not been identified. Strong recent evidence emerging from twin studies confirmed major roles of genetics and the environment in the disease pathogenesis.
CONCLUSIONS
The available literature on the etiology of ICTEV presents major limitations in terms of great heterogeneity and a lack of high-profile studies. Although many studies focus on the genetic background of the disease, there is lack of consensus on one or multiple targets. Genetics and smoking seem to be strongly associated with ICTEV etiology, but more studies are needed to understand the complex and multifactorial genesis of this common congenital lower-limb disease.
Topics: Clubfoot; Gene-Environment Interaction; Humans
PubMed: 30134936
DOI: 10.1186/s13018-018-0913-z -
Genes, Chromosomes & Cancer Dec 2018Tumors characterized by co-expression of S100 and CD34, in the absence of SOX10, remain difficult to classify. Triggered by a few index cases with monomorphic...
Tumors characterized by co-expression of S100 and CD34, in the absence of SOX10, remain difficult to classify. Triggered by a few index cases with monomorphic cytomorphology and distinctive stromal and perivascular hyalinization, immunopositivity for S100 and CD34, and RAF1 and NTRK1 fusions, the authors undertook a systematic review of tumors with similar features. Most of the cases selected were previously diagnosed as low-grade malignant peripheral nerve sheath tumors, while others were deemed unclassified. The tumors were studied with targeted RNA sequencing and/or FISH. A total of 25 cases (15 adults and 10 children) with kinase fusions were identified, including 8 cases involving RAF1, 2 BRAF, 14 NTRK1, and 1 NTRK2 gene rearrangements. Most tumors showed a monomorphic spindle cell proliferation with stromal and perivascular keloidal collagen, in a patternless architecture, with only occasional scattered pleomorphic or multinucleated cells. Most cases showed low cellularity, a low mitotic count, and absence of necrosis. Although a subset showed overlap with lipofibromatosis-like neural tumors, the study group showed distinctive hyalinization and overt malignant features, such as highly cellular fascicular growth and primitive appearance. All tumors showed co-expression of S100 and CD34, ranging from focal to diffuse. SOX10 was negative in all cases. NTRK1 immunohistochemistry showed high levels of expression in all tumors with NTRK1 gene rearrangements. H3K27me3 expression performed in a subset of cases was retained. These findings together with the recurrent gene fusions in RAF1, BRAF, and NTRK1/2 kinases suggest a distinct molecular tumor subtype with consistent S100 and CD34 immunoreactivity.
Topics: Adolescent; Adult; Child; Child, Preschool; Gene Fusion; Gene Rearrangement; Genes, Neoplasm; Humans; Male; Membrane Glycoproteins; Middle Aged; Nerve Sheath Neoplasms; Proto-Oncogene Proteins B-raf; Proto-Oncogene Proteins c-raf; Receptor, trkA; Receptor, trkB; Receptors, Complement 3b; S100 Proteins; SOXE Transcription Factors; Sarcoma; Soft Tissue Neoplasms; Young Adult
PubMed: 30276917
DOI: 10.1002/gcc.22671 -
Oncotarget Nov 2017It is reported recently Tropomyosin-related receptor Kinase B (TrkB) plays key roles in the anoikis resistance during the processes of tumorigenesis and metastasis....
It is reported recently Tropomyosin-related receptor Kinase B (TrkB) plays key roles in the anoikis resistance during the processes of tumorigenesis and metastasis. However, its prognostic significance for clinical patients remains inconclusive. In order to establish a correct and practicable link between increased TrkB and prognostication of human solid tumors, a meta-analysis was performed in this article. A systematic literature research in the electronic databases PubMed, Embase and Web of Science was performed to identify eligible studies. A fixed-effects meta-analytical model was employed to correlate TrkB expression with OS, DFS and clinicopathological features. A total of 11 studies covering 1516 patients with various solid tumors were recruited in this meta-analysis. TrkB over-expression was associated with poorer OS and poorer DFS in multivariate analysis. Additionally, the pooled odds ratios (ORs) indicated that TrkB over-expression was associated with large tumor size, lymph node metastasis, distant metastasis and a higher clinical stage. Overall, these results indicated that TrkB over-expression in patients with solid tumors might be related to poor prognosis and serve as a potential predictive marker of poor clinicopathological prognosis factor.
PubMed: 29245910
DOI: 10.18632/oncotarget.19561 -
[Primary small cell neuroendocrine carcinoma of the larynx: a review of literature and case series].Laryngo- Rhino- Otologie Dec 2021Small cell neuroendocrine carcinoma (SCNC) of the larynx is a rare tumor entity with a 5-year overall survival (OS) of only 5 % after treatment with chemoradiotherapy.
INTRODUCTION
Small cell neuroendocrine carcinoma (SCNC) of the larynx is a rare tumor entity with a 5-year overall survival (OS) of only 5 % after treatment with chemoradiotherapy.
METHODS
A systematic review of the literature was performed for "SCNC" and "SCNC in head and neck". Our hospital's own electronic patient file database was investigated for patients diagnosed with a SCNC over the last 12 years.
RESULTS
The effectiveness of chemoradiotherapy in SCNC is still unclear since randomized clinical trials are missing for the evaluation of standard of care treatment. Common therapy approaches are based on experiences with small cell lung cancer. 0.5 % of all SCNC occur in the head and neck region. In the last 12 years, we diagnosed 9 patients with SCNC, two of which were located in the larynx. Exemplarily, we report the case of a 29-year-old male with the initial diagnosis of a SCNC of the larynx with concurrent lymph node metastasis. This case is particularly interesting due to the young age at disease onset and the lack of major risk factors. Treatment was modified to nivolumab due to progressive disease after treatment with chemoradiotherapy. After an OS of 22 months, the patient deceased due to a tumor-associated major bleeding with airway obstruction.
CONCLUSION
So far there are no clinical reports evaluating the use of nivolumab in third-line-therapy of SCNC. NTRK fusion (neurotrophic tyrosine receptor kinase gene fusion) or the folate receptor expression analysis should be considered to evaluate the potential use of a tropomyosin receptor kinase inhibitor or a folate receptor targeting therapy.
Topics: Adult; Antineoplastic Agents; Carcinoma, Neuroendocrine; Carcinoma, Small Cell; Humans; Larynx; Male
PubMed: 33395712
DOI: 10.1055/a-1334-4444