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Topic Review
Genetics of Impulsivity
In psychology, impulsivity (or impulsiveness) is a tendency to act on a whim, displaying behavior characterized by little or no forethought, reflection, or consideration of the consequences. Impulsive actions are typically "poorly conceived, prematurely expressed, unduly risky, or inappropriate to the situation that often result in undesirable consequences," which imperil long-term goals and strategies for success. Impulsivity can be classified as a multifactorial construct. A functional variety of impulsivity has also been suggested, which involves action without much forethought in appropriate situations that can and does result in desirable consequences. "When such actions have positive outcomes, they tend not to be seen as signs of impulsivity, but as indicators of boldness, quickness, spontaneity, courageousness, or unconventionality" Thus, the construct of impulsivity includes at least two independent components: first, acting without an appropriate amount of deliberation, which may or may not be functional; and second, choosing short-term gains over long-term ones. Impulsivity is both a facet of personality and a major component of various disorders, including ADHD, substance use disorders, bipolar disorder, antisocial personality disorder, and borderline personality disorder. Abnormal patterns of impulsivity have also been noted instances of acquired brain injury and neurodegenerative diseases. Neurobiological findings suggest that there are specific brain regions involved in impulsive behavior, although different brain networks may contribute to different manifestations of impulsivity, and that genetics may play a role. Many actions contain both impulsive and compulsive features, but impulsivity and compulsivity are functionally distinct. Impulsivity and compulsivity are interrelated in that each exhibits a tendency to act prematurely or without considered thought and often include negative outcomes. Compulsivity may be on a continuum with compulsivity on one end and impulsivity on the other, but research has been contradictory on this point. Compulsivity occurs in response to a perceived risk or threat, impulsivity occurs in response to a perceived immediate gain or benefit, and, whereas compulsivity involves repetitive actions, impulsivity involves unplanned reactions. Impulsivity is a common feature of the conditions of gambling and alcohol addiction. Research has shown that individuals with either of these addictions discount delayed money at higher rates than those without, and that the presence of gambling and alcohol abuse lead to additive effects on discounting.
  • 1.2K
  • 15 Nov 2022
Topic Review
Child and Adolescent Obesity
Child and adolescent obesity constitute one of the greatest contemporary public health menaces. The enduring disproportion between calorie intake and energy consumption, determined by a complex interaction of genetic, epigenetic, and environmental factors, finally leads to the development of overweight and obesity. Child and adolescent overweight/obesity promotes smoldering systemic inflammation (“para-inflammation”) and increases the likelihood of later metabolic and cardiovascular complications, including metabolic syndrome and its components, which progressively deteriorate during adulthood. Exosomes are endosome-derived extracellular vesicles that are secreted by a variety of cells, are naturally taken-up by target cells, and may be involved in many physiological and pathological processes. Over the last decade, intensive research has been conducted regarding the special role of exosomes and the non-coding (nc) RNAs they contain (primarily micro (mi) RNAs, long (l) non-coding RNAs, messenger (m) RNAs and other molecules) in inter-cellular communications. Through their action as communication mediators, exosomes may contribute to the pathogenesis of obesity and associated disorders. There is increasing evidence that exosomal miRNAs and lncRNAs are involved in pivotal processes of adipocyte biology and that, possibly, play important roles in gene regulation linked to human obesity. 
  • 1.2K
  • 14 Apr 2021
Topic Review
ATR-X Syndrome
Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many parts of the body. This condition occurs almost exclusively in males.
  • 1.2K
  • 04 Jan 2021
Topic Review
MTR Gene
5-methyltetrahydrofolate-homocysteine methyltransferase
  • 1.2K
  • 23 Dec 2020
Topic Review
Monoamine Oxidase A Deficiency
Monoamine oxidase A deficiency is a rare disorder that occurs almost exclusively in males. It is characterized by mild intellectual disability and behavioral problems beginning in early childhood.
  • 1.2K
  • 23 Dec 2020
Topic Review
Assisted Reproductive Techniques (ART)
To increase the efficiency of assisted reproductive techniques (ART), molecular studies have been performed to identify the best predictive biomarkers for selecting the most suitable germ cells for fertilization and the best embryo for intra-uterine transfer.
  • 1.2K
  • 16 Aug 2021
Topic Review
Boomerang Dysplasia
Boomerang dysplasia is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Pronounced bowing of the upper leg bones (femurs) gives them a "boomerang" shape.
  • 1.2K
  • 24 Dec 2020
Topic Review
LEP Gene
leptin
  • 1.2K
  • 04 Jan 2021
Topic Review
Spastic Paraplegia Type 5A
Spastic paraplegia type 5A is one of a group of genetic disorders known as hereditary spastic paraplegias.
  • 1.2K
  • 23 Dec 2020
Topic Review
MECP2-Related Disorders in Males
Methyl CpG binding protein 2 ( MECP2 ) is an unstructured protein that can adopt local secondary structures when binding to other molecules, which explains its involvement in multiple molecular interactions and thereby, functions. Thus, MECP2 is a multifunctional gene that acts as a transcriptional regulator (both activating and repressing) and a chromatin remodeler; it also interacts with the RNA splicing machinery and with microRNA processing machinery, among others. Post-translational modifications are also implicated in regulating its activity and interactions with other proteins.
  • 1.2K
  • 08 Feb 2022
Topic Review
Cri-du-chat Syndrome
Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat.
  • 1.2K
  • 24 Dec 2020
Topic Review
Pharmacogenomic Biomarkers in Psychiatry
Pharmacogenomic biomarkers are potential individual genetic variations that can affect drug response influencing both pharmacokinetic parameters by causing variable activity of the systems responsible for the absorption, distribution, metabolism, and excretion of the drug and pharmacodynamic parameters like the mechanisms of action of the drug. Here, the term "pharmacogenomic biomarkers in psychiatry" means those related to a variety of psychiatric disorders, such as depression, ADHD, narcolepsy, schizophrenia, bipolar disorder, and epilepsy. 
  • 1.2K
  • 10 Feb 2021
Topic Review
HNSCC
Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. Squamous cells are found in the outer layer of skin and in the mucous membranes, which are the moist tissues that line body cavities such as the airways and intestines. Head and neck squamous cell carcinoma (HNSCC) develops in the mucous membranes of the mouth, nose, and throat.
  • 1.2K
  • 23 Dec 2020
Topic Review
FBXL4-Related Early Onset Mitochondrial Encephalopathy
FBXL4-related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome is a severe condition that begins in infancy and affects multiple body systems. It is primarily associated with brain dysfunction combined with muscle weakness (encephalomyopathy).
  • 1.2K
  • 04 Jan 2021
Topic Review
FGG Gene
Fibrinogen gamma chain
  • 1.2K
  • 25 Dec 2020
Topic Review
Thiopurine S-methyltransferase Deficiency
Thiopurine S-methyltransferase (TPMT) deficiency is a condition characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines.
  • 1.2K
  • 23 Dec 2020
Topic Review
Repetitive Elements in Humans
Repetitive DNA in humans is still widely considered to be meaningless, and variations within this part of the genome are generally considered to be harmless to the carrier. In contrast, for euchromatic variation, one becomes more careful in classifying inter-individual differences as meaningless and rather tends to see them as possible influencers of the so-called ‘genetic background’, being able to at least potentially influence disease susceptibilities. Here, the known ‘bad boys’ among repetitive DNAs are reviewed. Variable numbers of tandem repeats (VNTRs = micro- and minisatellites), small-scale repetitive elements (SSREs) and even chromosomal heteromorphisms (CHs) may therefore have direct or indirect influences on human diseases and susceptibilities. Summarizing this specific aspect here for the first time should contribute to stimulating more research on human repetitive DNA. It should also become clear that these kinds of studies must be done at all available levels of resolution, i.e., from the base pair to chromosomal level and, importantly, the epigenetic level, as well.
  • 1.2K
  • 03 Mar 2021
Topic Review
Shingles
Shingles (also known as herpes zoster) results from infection by the varicella zoster virus.
  • 1.2K
  • 25 Dec 2020
Topic Review
Applications of Next-Generation Digital Pathology
Tissue cytometry may provide the methodological basis for next-generation digital pathology, which is the state-of-the-art technology to use and constitutes an enabling factor for precision medicine in clinics as well as in research. Within this review, we are going one step further by addressing the concepts of next-generation digital pathology using imaging-based tissue cytometry, in combination with multiplexing and RNA ISH technologies, as an emerging and central method within precision diagnostics, and discussing various applications.
  • 1.2K
  • 07 May 2021
Topic Review
Small Activating RNAs
Small double-strand RNAs (dsRNA) might target promoter regions of genes thereby activating transcription of targets a process known as RNA activation (RNAa). Small activating RNAs (saRNAs) involved in RNAa have been successfully used to activate gene expression in cultured cells as well as in different in vivo models. Thus, this technique might allow to develop various biotechnological applications without the need to synthesize hazardous construct systems harboring exogenous DNA sequences. The recent success of Covid-19 vaccinations is an excellent example of the therapeutic use of RNAs.
  • 1.2K
  • 11 May 2021
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