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#genetic transposition
teachersource · 11 months
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Barbara McClintock was born on June 16, 1902. An American scientist and cytogeneticist who was awarded the 1983 Nobel Prize in Physiology or Medicine. She demonstrated the role of the telomere and centromere, regions of the chromosome that are important in the conservation of genetic information. She made an extensive study of the cytogenetics and ethnobotany of maize (corn) races from South America. McClintock discovered transposition and used it to demonstrate that genes are responsible for turning physical characteristics on and off. She developed theories to explain the suppression and expression of genetic information from one generation of maize plants to the next.
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transmutationisms · 10 months
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Epigenetics anon, just to say you answered it 👍 by "alternatives" I meant in explanatory power, but it seems we agree both that it's the best for "how organisms work" broadly, & that recognizing it doesn't suddenly mean we can better target genetic "improvements" (ie, increase an organism's profitability). But now I'm curious about the Yellow Wallpaper critique? High school taught it was an epic clap-back against hysteria diagnoses and views of (upper-class) women as fragile.
gotcha. but yes this is a great post from najia gothhabiba about the yellow wallpaper:
it's important i would say for anyone to learn to recognise these ideas and contextualise them as eugenic, but esp if your work bumps up against ideas of heredity, epigenetics, biological improvement, &c. the idea of changing an organism thru action on its environment, for example, has a history; there's clear transposition from animal and plant breeding in the 18th century to schemes for social control and improvement in the 19th and onward. this sort of discursive & cross-disciplinary slippage absolutely still occurs today; it is never politically neutral when we start hearing about ways to improve organisms, whether thru crispr-style genetic engineering, or cross-breeding, or efforts to control bodies thru environmental meddling (u can see this latter in, for example, theories of the 'obesogenic environment' in public health/nutrition sci).
& i also have to say here: yea, this story IS a response to the hysteria dx and the idea of white female 'fragility'; it IS ALSO a eugenic argument. those two things are not in contradiction; again there is a massive history here of feminist (& socialist!) eugenic projects. feminist discourses are not only capable of engaging with eugenic and racist logic, some have historically and presently grounded their arguments on these very points. in fact part of the argument of gilman's feminism was always an appeal to white men that it would be in their interest to improve their own racial stock and position in the social hierarchy by attending to white women's biological betterment, such as by turning against things like locking their wealthy wives up in the attic. the demonstration of the 'barbarity' of such treatment is an appeal to the fear of degenerating the race thru mistreatment of wealthy, otherwise respectable / capable women. the story is both feminist and eugenicist; the two don't contradict. this is a really good example of how 'white feminism' is not just a feminism that 'lacks' attention to race and racism; rather, it is feminism that makes its appeal for women's liberation explicitly on racist & racialising grounds, & at the direct expense of racialised people.
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grison-in-space · 6 months
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One thing you have to understand about me as a scholar is that before I fell wholly under the spell of behavior, I trained as quite a good population geneticist. There is still a large part of my heart devoted to the subject and the addictive intuition I can use when I'm studying it.
What this means is that when I think about disentangling what biological sex even is, I start with the chromosomes themselves. Mammals have a gene called SRY that lives on the Y chromosome, which is tiny and mostly chewed up in our species and several others. If this gene is expressed, the embryo expressing it triggers a cascade of hormonal signals during development that encourages the developing fetus to turn its budding gonads into testes, spin its genital tubercule into a penis, and generally walk along a particular well trod path towards one kind of reproductive destiny. If it's not expressed, by default the budding reproductive system develops ovaries and a clitoris instead.
This is is where it gets complicated.
See, that's how it works in mammals, but that's actually a strange setup in its own right when you think about genetic sex determination systems. You can really get quite exotic with those, including baroque variations on haplodiploidy[1]. But even if you insist on limiting your understanding of what biological sex is doing to mammals... well, for one thing, SRY isn't the way that sex chromosomes always worked. Monotremes don't have that gene. In them, as with birds and their W chromosome, the sex determining part of the heterogametic chromosome[2] is distributed across the whole chromosome, not confined to just one single gene.
And there are reasons that sex specific modulation genes might migrate to the heterogametic chromosome in any case. All sexual dimorphism creates an inherent tension between the expressions of genes and specific variants that are best for any given fitness optimum in each sex, you feel me? Think about the way some show chickens have to be bred to win at shows, between "best hen" and "best cockerel" competitions: often, breeders maintain separate lines for each sex, and never the twain shall meet! There's a pleiotropic pull that makes it harder to select for particular traits in a really dimorphic species. Transpositions of genes from one chromosome to another can mean a relaxation in the conflict of sexual dimorphism by more closely coordinating sex-specific expression.
This is one of the reason dosage compensation is a thing. Everyone remembers those little stories about Barr bodies and tortoiseshell cats, right? How every body with at least two X chromosomes is a mosaic of cell lines that silence and ignore all but one of those chromosomes? In cats where the locus for "no eumelanin" (i.e orange pigment only) happens to sit on the X, heterozygote animals (that is, torties) have hair cells that are a mosaic of cell lines that decided to turn off the X chromosome with the "black" allele and cell lines that decided to turn off the orange X? The thing is, most phenotypic variations are not driven by changes in coding regions: they're driven, often very strongly, by changes in gene regulation. This is why having an extra copy of an autosome is almost always lethal in humans: the sole exception is trisomy 21, which we usually know as Down's syndrome. Adding another whole chromosome's worth of gene product to the system for any but the very smallest of chromosomes just isn't survivable for long unless you have a mechanism to even out the imbalance of gene product--and the X chromosome is not a small chromosome in humans. It's what, somewhere between six and eight in size? (Autosomal chromosomes are named biggest to smallest.)
To make this survivable and okay, sex chromosomes get all kinds of special tinkering. They need to make sure that gene expression between sexes, in species with sex chromosomes, is as perfectly equal as possible. A surprising amount of the time, you'll find sex differences whose main function appears to be keeping things in some other system totally the same, minimizing variation between sexes rather than creating them. Bodies are complicated things!
So ANYWAY: if you want to understand sex differences as they are, outside the realm of typical genital development? You have to understand that biological sex is a function of tons of different systems that might or might not uniformly all co-vary in the same direction. For example, let's take a list of five imaginary traits, each of which can be scored on a scale from -1 (most masculine) to +1 (most feminine). If sex is a single uniform thing, you'd expect all of these things to covary, such that you'd see a relationship like this imaginary dataset:
Ind 1: 0.9 0.8 0.7 0.8 0.8
Ind 2: 0.1 -0.1 0.3 -0.2 0
Ind 3: -0.7 -0.6 -0.8 -0.5 -0.9
[1] Haplodiploidy means that if you have one copy of all your chromosomes, you develop as male; if you have two copies, female. This is how bees and ants and wasps work. In some cases, as in cottony cushion scale insects, you can even do a frankly bizarre thing in which you have some haploid "invasive male tissue" that exists pretty much entirely to fertilize your eggs so you can lay diploid daughter eggs without having to bother to find a male.
You can see a strong covariance of traits between these individuals, such that some measure of sex is inflected along a spectrum that then gives rise to the five related traits, with a filter for noise laid over top. But this isn't usually what we see in the sex differences literature: with the exception of reproductive organs themselves, usually we actually see results more like this:
Ind 1: 0.0 0.1 -0.4 -0.8 0.3
Ind 2: 0.7 -0.6 0.1 -0.7 -0.4
Ind 3: 0.5 0.3 -0.2 0.1 -0.8
See how variation at one spot doesn't do a good job of predicting the next in this data set? All of these traits are variable, and all of them have some individuals who don't quite cluster with "their" group. It's the covariance between the scores on various "levels" of sex that is low: that is, real differences between sexes exist, but we don't know why they're there, and scores on each don't correlate well with each other--especially for behavior.
In any case, there's quite a lot of good reason to think that SRY might actually not be the end all be all of genetic variation according to sex, even though it casts a deciding vote in which direction of gonadal development a given individual starts on. How much of variation between sexes in mice is actually a function of SRY and its androgenic changes, and how much is a function of the genes on the Y and the cis acting regulation of those genres, is an open question.
So the thing I'm reading about is: there was a random mutation in a mouse line that deleted SRY, producing mice that are XY but otherwise develop as fully fertile females. On the other hand, there are also transgene constructs that have SRY transplanted to one of four autosomes (the Four Core Genotypes model). This lets us disentangle the effects of chromosomal sex from, essentially, SRY- vs SRY+ positive (or testicular anatomy or whatever) development. It's extremely cool shit and I'm very interested in brushing up.
And that's what I was excited about, folks.
[2] The heterogametic chromosome is the Y chromosome in an XY system or the W in a ZW system-- as contrasted to the homogametic chromosome, which appears duplicated in ZZ or XX individuals. The distinction between the two is which sex is which: XX animals are female and XY male, but ZZ animals are male and ZW animals are female. Either works fine.
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hypostorie · 1 month
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Hypospadias
Hypospadias is a common variation in fetal development of the penis in which the urethra does not open from its usual location on the head of the penis. It is the second-most common birth defect of the male reproductive system, affecting about one of every 250 males at birth. Roughly 90% of cases are the less serious distal hypospadias, in which the urethral opening (the meatus) is on or near the head of the penis (glans). The remainder have proximal hypospadias, in which the meatus is all the way back on the shaft of the penis, near or within the scrotum. Shiny tissue that typically forms the urethra instead extends from the meatus to the tip of the glans; this tissue is called the urethral plate.
In most cases, the foreskin is less developed and does not wrap completely around the penis, leaving the underside of the glans uncovered. Also, a downward bending of the penis, commonly referred to as chordee, may occur. Chordee is found in 10% of distal hypospadias and 50% of proximal hypospadias cases at the time of surgery. Also, the scrotum may be higher than usual on either side of the penis (called penoscrotal transposition).
The cause of hypospadias is unknown; however, there is likely to be a genetic component. It most often occurs by itself, without other variations, although in about 10% of cases it may be part of an intersex condition or a medical syndrome with multiple abnormalities
Hypospadias can be a symptom or indication of a difference in sex development or an intersex condition, but some consider that the presence of hypospadias alone is not enough to classify someone as a person with a difference/variation in sex development or as intersex. In most cases, hypospadias is not associated with any other condition. Hypospadias is itself recognized as an intersex condition by several intersex rights activist groups, who consider the repositioning of a working urethra on a child too young to consent to be a human rights violation.
Source: Wikipedia, the free content online encyclopedia
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katiajewelbox · 2 months
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Women’s History Month March 2024
Discover a bouquet of women botanists and plant scientists from history!
Barbara McClintock
Why does Native American flint corn (Zea mays) often have a multicoloured mosaic pattern of kernel colours? The biological answer is transposons or “jumping genes”! Dr. Barbara McClintock (June 16, 1902 – September 2, 1992) was the American cytogeneticist who discovered that certain genetic loci can change position on chromosomes, a phenomenon called “transposition”, using multicoloured corn as the model organism between 1948 and 1950. McClintock courageously pursued her calling as a biologist despite societal attitudes discriminating against women in scientific careers. She went on to win the 1983 Nobel Prize for Physiology or Medicine for her work on transposons.
Janaki Ammal
The first woman to earn a PhD in botany at a university in the USA was actually from India! Janaki Ammal (4 November 1897 – 7 February 1984) was born in Kerala, India, to a family of civil servants. She travelled to the USA via scholarships for Asian students and earned both a Masters degree and PhD from the University of Michigan by 1931. At the John Innes Centre in the UK, she co-authored the Chromosome Atlas of Cultivated Plants (1945). Later in her career she worked on breeding superior varieties of sugarcane and eggplant in her home country.
Estelle Leopold
A botanist interested in both the past and the future of plant life, Estelle Leopold (January 8, 1927 – February 25, 2024) pioneered the use of fossilised pollen and spores to document environmental changes over vast time periods. Her research uncovered connections between climate change and evolution plus extinction of plant species, including trends of the central regions of continents experiencing more species turnover than coastal areas. Her work as a conservationist led to the protection of the Florissant Fossil Beds National Monument in Colorado, and she also helped prevent the building of dams in the Grand Canyon as well as oil shale development and the transport of nuclear waste in the Pacific Northwest.
#womeninscience#womenshistorymonth#plantscience#botany#barbaramcclintock#scientist#womenscientists#botanists#janakiammal#estelleleopold#history#inspiringwomen#WomenInSTEM#womeninplantscience#PlantBiology
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evoldir · 2 months
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Fwd: Symposia: Online_Vienna.PopulationGenetics.Tuesdays
Begin forwarded message: > From: [email protected] > Subject: Symposia: Online_Vienna.PopulationGenetics.Tuesdays > Date: 27 February 2024 at 05:42:33 GMT > To: [email protected] > > > Dear colleagues, > > The Vienna Graduate School of Population Genetics runs an > internationally recognized seminar series featuring weekly talks by > leading experts in population genetics. We invite interested listeners > to join our webinars during the upcoming Summer term (Tuesdays at > 17:00 CET/CEST). > > Sign up here to receive regular webinar announcements and zoom links > for the upcoming term: > https://ift.tt/71OmtZj > > Schedule: > > 12.03.24 - Laura Hayward (Institute of Science and Technology Austria, AT) > Polygenic adaptation with pleiotropy. > > 19.03.24 - Thomas Lenormand (CNRS, CEFE Montpellier, FR) > Regulatory evolution, sex chromosomes and speciation. > > 09.04.24 - Otto X. Cordero (Massachusetts Institute of Technology, US) > tba. > > 16.04.24 - Hannah G�tsch (Univ. of Vienna, AT) > Polygenic Puzzles: Investigating quantitative traits under directional > selection. > > 23.04.24 - Molly Schumer (Stanford Univ., US) > Unraveling the tangled web: Genetics and evolution in natural populations. > > 30.04.24 - Anna Maria Langm�ller (Univ. of Vienna, AT) > Gaussian Process Emulation: an application in epidemiology. > > 07.05.24 - Mois�s Exp�sito-Alonso (Univ. of California, Berkeley, US) > Rapid evolution across climates in globally distributed experiments of > an annual herb. > > 14.05.24 - Nicolas Galtier (Univ. of Montpellier, FR) > Phylogenetic conflicts: distinguishing gene flow from incomplete > lineage sorting. > > 21.05.24 - Darren Obbard (Univ. of Edinburgh, UK) > Mutation, recombination, and transposition in Drosophilidae. > > 28.05.24 - Benjamin Blackman (Univ. of California, Berkeley, US) > Tracing sunflower domestication through space and time with archaeological DNA. > > 04.06.24 - Christian Landry (Univ. Laval, CA) > Evolution of protein-protein interactions after gene duplication. > > 11.06.24 - Rasmus Nielsen (Univ. of California, Berkeley, US) > Population genetic inferences using ancestral recombination graphs. > > 18.06.24 - Charles Baer (Univ. of Florida, US) > Exploring heritable variation in mammalian cells. > > 25.06.24 - Nancy Chen (Univ. of Rochester, US) > Tracking short-term evolution in a pedigreed wild population. > > Webinars organised by the Vienna Graduate School of Population > Genetics are listed on our website > https://ift.tt/zNatV6W > > Many talks are recorded and can be found on youtube: > https://www.youtube.com/channel/UCAdGx2zyQNyVti9Cr1muhUg > > > > Dr. Julia Hosp > > Vienna Graduate School of Population Genetics > Coordinator > > www.popgen-vienna.at > https://twitter.com/PopGenViennaPhD > > c/o > Institut f�r Mathematik, Universit�t Wien > & Institut f�r Populationsgenetik, Veterin�rmedizinische Universit�t Wien > > T +43 1 25077 4302 > via Email February 27, 2024 at 08:11AM
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aditi-jagtap-pune · 9 months
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Understanding Congenital Heart Defects in Children | Aditi jagtap pune
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The birth of a child is one of life's most priceless events for parents. Unfortunately, for some parents, the good news that their child has a congenital heart defect (CHD) may come along with this happy event. The majority of birth problems, affecting around 1 in 100 live births worldwide, are congenital heart defects. The world of congenital heart abnormalities, its causes, symptoms, and available treatments will all be covered in this blog. Join us as we explore these difficult issues in greater detail using the renowned Dr. Ranjit Jagtap Daughter.
Congenital heart defects: what are they?
Heart structural abnormalities present at birth are referred to as congenital heart defects. They can range from straightforward illnesses with little or no symptoms and little need for care to complex, potentially fatal conditions requiring urgent medical attention. These flaws manifest themselves as the fetus is developing, frequently in the first eight weeks of pregnancy while the heart is developing. Malformations in the heart's walls, valves, or blood arteries can result from any disruption in this crucial process.
Risk factors and the causes
Congenital cardiac abnormalities can be caused by a variety of conditions, while their exact causes are still mostly unknown. Genetic abnormalities, maternal health issues (such as diabetes or specific illnesses during pregnancy), exposure to pollutants in the environment, and use of specific drugs during pregnancy are a few examples of potential contributing variables. A mix of genetic and environmental variables may contribute to the development of CHDs, according to research.
While some risk factors may raise the incidence of CHDs, according to him, the majority of affected infants are born to parents who have no prior history of heart problems. Because CHDs can impact any kid, regardless of family medical history, it is imperative to comprehend this fact.
Congenital Heart Defects Types
Cyanocytic and acyanotic abnormalities are the two primary types that comprise congenital heart defects.
Cyanotic Defects: In these defects, the child's blood is deficient in oxygen, causing the skin and mucous membranes to have a bluish color. Tetralogy of Fallot, Transposition of the Great Arteries, and Truncus Arteriosus are a few examples of cyanotic deformities, says Aditi jagtap pune.
Acyanotic flaws: The child's blood contains enough oxygen, hence these flaws do not result in cyanosis. Ventricular septal defect (VSD), atrial septal defect (ASD), and patent ductus arteriosus (PDA) are a few typical acyanotic defects.
Symptoms and Signs
Depending on the kind and degree of the abnormality, congenital heart defects can present with a wide range of symptoms. While some children may not initially display any outward symptoms, others may soon after birth display urgent, life-threatening symptoms. Typical indications of CHDs include
Breathing quickly or having trouble breathing
Poor nutrition and insufficient weight gain
Skin, lips, and nails with a bluish color (cyanosis)
drowsiness and easily getting tired during physical activity
respiratory diseases that recur
legs, the stomach, or the area around the eyes swelling
A heart murmur is an unnatural sound that can be detected using a stethoscope.
Identification and Therapy
Effective management of congenital cardiac abnormalities depends on early diagnosis. Aditi jagtap pune stresses the value of routine newborn and prenatal tests to find any potential heart problems. Further diagnostic procedures like echocardiography, electrocardiography (ECG), chest X-rays, or cardiac catheterization may be advised if a doctor detects a heart abnormality.
The severity of the abnormality and available treatments for CHDs vary. In certain instances, the flaw could go away on its own over time without any intervention. However, a lot of congenital cardiac problems in youngsters will require treatment through surgery or other means.
Rebuilding blood arteries, sealing aberrant holes, or repairing cardiac structures are all examples of surgical operations. If the lesion is too serious to correct, certain instances can necessitate heart transplantation. The outcomes for children with CHDs have greatly improved thanks to developments in medical technology and surgical methods, improving quality of life and raising survival rates.
Result for Families
Families may feel helpless after receiving a congenital heart defect diagnosis as they deal with the associated logistical, financial, and emotional difficulties. Parents frequently experience a range of feelings, such as dread, guilt, and uncertainty. He emphasizes the value of counseling and emotional support in such circumstances for families dealing with CHDs. Parents might find essential connections with others who have traveled similar paths through support groups and networks.
Conclusion
For early detection and adequate care of congenital cardiac abnormalities in children, it is essential to comprehend these conditions. We have investigated the world of CHDs, their causes, symptoms, and available treatments with the assistance Dr. Ranjit Jagtap Daughter. While these illnesses are challenging, advances in medical science have given children with these conditions hope and better results.
Don't be afraid to seek expert medical advice if you think your child might have a congenital heart issue or if you want to learn more about heart health in general. Remember that the keys to overcoming the difficulties brought on by congenital heart abnormalities and promoting the health of these developing hearts are education, awareness, and support.
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cambridge-publishers · 10 months
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Heart Transplant Case Reports Journal
Heart Transplant Case Reports Journal published case reports in Heart Transplantation journal, image journal in Heart Transplantation, surgery in Heart Transplantation journal, surgical journal in Heart Transplantation case reports, video journal in Heart Transplantation case reports etc. 
Journal of Heart Transplantation Case Reports indexed peer reviewed internationally reputed medical journal. This scholarly Open Access journal aims at exploring new, relevant, and the most compelling developments in the field of Heart Transplantation. Heart Transplant Case Reports Journal publishes a wide range of articles in Heart Transplantation in Children with Down syndrome, Pediatric heart transplantation in Case Reports, cardiac disease, Myocarditis and Cardiomyopathy disease, Rheumatic heart disease, Heart transplantation. 
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Pediatric heart transplantation, Clinical Cardiology Journal, Cardiac transplantation in children Journal, Adolescents Journal of cardiology, Heart failure in children, Pediatric patients with stage D heart failure, Congenital heart disease, Re-transplantation of heart disease and Cardiac transplantation.
Journal of Heart Transplantation Case Reports is using the Editorial Tracking System for quality in the review process. Editorial Tracking is an online manuscript submission, review and tracking system. Review processing is performed by the editorial board members of Heart Transplant Case Reports Journal in Children Case Report and Clinical Images or outside experts; at least two independent reviewers approval followed by editor approval is required for acceptance of any citable manuscript. Authors may submit manuscripts and track their progress through the system, hopefully to publication. Reviewers can download manuscripts and submit their opinions to the editor. Editors can manage the whole Submission/Review/Peer review/Revise/Publish process.
Down Syndrome Case Reports Journal
Down syndrome is a lifelong condition. Although it can’t be cured, doctors know more about it now than ever. If your child has it, getting the right care early on can make a big difference in helping them live a full and meaningful life. Down syndrome can have many effects, and it’s different for each person. Some will grow up to live almost entirely on their own, while others will need more help taking care of themselves. Mental abilities vary, but most people with Down syndrome have mild to moderate issues with thinking, reasoning and some other possibilities in children’s. Down's syndrome a genetic disorder that affects a baby's normal physical development and causes learning difficulties the mother having certain infections, such as rubella, during pregnancy.
Cardiac Disease Case Reports Journal
Cardiac disease are many types of heart disease and they sometimes occur in combination. Some of the more common defects include: Septal defects-where there's a hole between 2 of the heart's chambers. Coarctation of the aorta-where the main large artery of the body, called the aorta, is narrower than normal. Pulmonary valve stenosis-where the pulmonary valve, which controls the flow of blood out of the lower right chamber of the heart to the lungs, is narrower than normal. Transposition of the great arteries-where the pulmonary and aortic valves and the arteries they're connected to have swapped positions. Underdeveloped heart-where part of the heart doesn’t develop properly making it difficult for it to pump enough blood around the body or lungs.
Myocarditis and Cardiomyopathy Disease
These are a group of disorders where the heart is structurally normal, but there is a problem in the function and contractility of the heart muscle. In myocarditis, there is inflammation of the heart muscle, often following a viral infection, which can lead to the transient weakening of the heart function along with heart failure. Myocarditis can also progress to dilated cardiomyopathy, where the heart pumping function is severely weakened and the heart is hugely enlarged. Dilated cardiomyopathy can be treated temporarily with medications, but severe cases may require ventricular assist devices and even heart transplantation in children.
Rheumatic Heart Disease
Acute rheumatic fever is a disease of joints and the heart described in children aged 3-15 years ago following a Streptococcal sore throat infection. Rheumatic fever often involves the heart valves, and if not treated early, can progress to permanent damage of the heart valves and rheumatic heart disease. While the incidence of rheumatic heart disease has gradually reduced over the last few decades in our country, this condition can still be seen in rural areas, and the affected patients may require cardiac surgery, heart transplantation and valve replacement.
Heart Transplantation Case Reports Journal
A heart transplantation is surgery to remove the diseased heart from a person and replace it with a healthy one from an organ donor. Heart transplant is a treatment that's usually reserved for people whose condition hasn't improved enough with medications or other surgeries.
Heart Failure in Children
The most common cause of heart failure in children is a heart defect that is present at birth (congenital). Heart failure, also called congestive heart failure, is a condition in which the heart can't pump enough blood to meet the needs of the body's organs. The heart keeps pumping, but not as efficiently as a healthy heart. Usually, heart failure reflects a progressive, underlying heart condition. When you have heart failure, the heart is not able to pump as well as it should. Blood and fluid may back up into the lungs.
Stage D Heart Failure
Stage D heart failure describes advanced progression of the heart failure syndrome characterized by structural abnormalities of the heart and severe resting symptoms despite optimal medical, surgical, and device therapy. The terms “stage D” and “advanced” are used interchangeably in the present document.
Congenital heart disease
A congenital heart disease or congenital heart defect is a problem with the structure of the heart that a child is born with. Some congenital heart disease in children are simple and don't need treatment. Other congenital heart defects in children are more complex and may require several surgeries performed over a period of several years.
Re-transplantation
Heart Re-Transplantation with the New Heart Transplant Allocation System. Improved Access to Patients who undergo Re-transplantation have characteristics distinct from those undergoing initial transplant. Cardiac re-transplantation accounts for a small proportion of the patients undergoing heart transplantation every year. However, due to improved patient management following transplant, the number of patients potentially requiring re-transplant is growing.
Manuscript Submission
Authors are requested to submit their manuscript by using Online Manuscript Submission https://www.cardiologycasereportsjournal.org/event/Journal-of-Heart-Transplantation-Case-Reports.html 
(or) also invited to submit through the Journal E-mail Id: [email protected] 
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teachingrounds · 1 year
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Some sex differences are genetic, like congenital adrenal hypersensitivity, congenital androgen insensitivity, and Smith-Lemli-Opitz Syndrome. However, not all sex differences are genetic: congenital absence of the vas deferens in boys with cystic fibrosis, bladder or cloacal exstrophy, aphallia, penoscrotal transposition, or isolated hypospadias.
Image of bladder exstrophy from "The diseases of women: a handbook for students and practitioners" (1897), p. 63. Courtesy of the Internet Archive.
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fullcircle26inc · 1 year
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Barbara McClintock was a scientist and cytogeneticist who was awarded the 1983 Nobel Prize in Physiology or Medicine. She discovered a chromosome-breaking locus that could change its position within a chromosome; it is now known as genetic transposition. She termed these “jumping genes”. (Ref: 25 Inspiring Quotes From Groundbreaking Women In Science By Emily Blackwood — Written on Feb 11, 2022) #FullCircle26inc, #growingcommunity, #BlackOwnedBusiness, #MinorityOwnedBusiness, #BlackWomanOwnedBusiness, #BlackFemaleCEO, #Cool_NewGreen_CEO, #weteachhydroponics, #learnhydroponics, #hydroteaching, #learntogrow, #Hydroponics, #nextgenerationharvest, #MondayMotivation https://www.instagram.com/p/CpugVH5NruY/?igshid=NGJjMDIxMWI=
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teachersource · 2 years
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Barbara McClintock was born on June 16, 1902. An American scientist and cytogeneticist who was awarded the 1983 Nobel Prize in Physiology or Medicine. She demonstrated the role of the telomere and centromere, regions of the chromosome that are important in the conservation of genetic information. She made an extensive study of the cytogenetics and ethnobotany of maize (corn) races from South America. McClintock discovered transposition and used it to demonstrate that genes are responsible for turning physical characteristics on and off. She developed theories to explain the suppression and expression of genetic information from one generation of maize plants to the next.
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jcrmhscasereports · 1 year
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Successful Jatene procedure for great arteries transposition correction in newborn with SARSCoV-2 infection by Guillermo Careaga-Reyna MD in Journal of Clinical Case Reports Medical Images and Health Sciences
ABSTRACT
Pandemic of COVID-19 represents a challenge for treatment of patients with congenital herat disease. We present a newborn with great vessels transposition and positive SARS-CoV-2 PCR test. The patient was submitted to a successful surgical treatment with corrective Jatene procedure, requiring opened chest wall during 72 h of postoperative period and 43 days of total in-hospital lenght of stay.
KEY-WORDS: COVID-19, SARS-CoV-2, great vessel transposition, Jatene procedure, congenital heart disease.
INTRODUCTION
Coronaviruses are single stranded ribonucleic acid viruses with a diameter of 60–140 nm and a high rate of genetic mutations and recombinations, rendering them capable of escaping from the immune system and causing novel infections (1). In less than six months, the coronavirus disease 2019 (COVID-19) pandemic has swiftly spread from one city in China to over 190 countries worldwide (2-4). Neonatal infections with SARS-CoV-2 have been described although robust data on vertical transmission are lacking. In most instances where neonatal infection has been reported, close contact with infected mother or caregiver is postulated to have occurred (4).
In newborns, the case is regarded as positive for infection if any of the following conditions occurs, (1): positive PCR for SARS-CoV-2 in respiratory tract or blood samples, high homology of viral gene sequences of the samples from the respiratory tract or blood to the COVID-19 sequence.
We present a case of a newborn with great vessel transposition and SARS-CoV-2 infection.
CASE REPORT
We present a new born with great arteries transposition associated to aquired SARS-COV-2 infection.
The patient was refrerred to our hospital, with a positive SARS-CoV-2 test, with mechanical ventilatory support in order to confirm a complex congenital heart disease.
The diagnosis was established via echocardiographic evaluation which showed normal venous return, concordance atrio-ventricular and ventriculo-arterial discordance. It was concluded: great arteries transposition, patent ductus arteriosus and permeability of foramen oval.
The patient was recovered from a septic shock with no evidence of systemic inflammatory response requires inotropic support and after stabilization in neonatal intensive care unit, at 10 day in-hospital stay,  was submitted to an open heart surgery consisted in anatomic correction with Jatene procedure. The aortic cross-clamping time was 119 min, with cardiopulmonary bypass (CPB) of 181 min. It was decided to maintain in postoperative period opened chest wall, and after 72 the chest wall closure was succesfully realized with favorable posoperative evolution. After 32 days of postoperative, the patient was discharged from hospital. Actually, two years after surgery, the patient is doing well, only with mild pulmonary stenosis without hemodinamic or clinical repercusion.
DISCUSSION
For infants born to COVID positive mothers should be reasonable to separate him from the mother if will need cardiac surgery to try avoid post-natal infection.
In fact, there is minimal evidence of placental vertical transmisión. In this case, the patient has a positive test for SARS-CoV-2 infection and evolved with septic shock in the preoperative period.
It may also be reasonable to do serial testing on the infant, but there is no consensus on the correct timing surgery should be scheduled with advice from a multidisciplinary team of experts including cardiac medical, cardiac surgical, and infectious diseases as indicated. After evaluation of the clinical conditions for a heart team in our hospital, it was decided to realize the surgical procedure in order to avoid progression of heart damage and irreversible heart failure.
However we must remember that, if prudent, surgery should be delayed until the patient’s symptoms have improved and/or testing has been repeated (often after 14 days) and is negative (5).
On the other side, in older patients the inflammatory response due to SARS-CoV-2 infection has been a frequent complication.
In our patient, probably due to the age, it was no presented even with the septic shock o posteriorly associated to the use of CPB during the surgical procedure
It was concluded taht COVID-19 may affect all age patients. However with cautious evaluation and treatment of associated disease as in our case, the patient improves survival, despite severity of viral illness, and during this pandemic period, patients with active COVID-19, at neonatal period we have no treated any other.
FINANCIAL SUPPORT: None.
CONFLICTS OF INTEREST: The authors declares there is no conflict of interests.
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walkfromhome · 1 year
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An Axiom Seal is a DNA seal placed on certain races Morphogenetic Field or race consciousness field, both in human and nonhuman entities, that are subject to a suppression of their genetic expression upon certain frequencies, codes or layers of their DNA. This seal suppresses their consciousness freedom, until they are willing to obey Universal Laws and be rehabilitated into the Law of One and accept Krystal Star as their authority. (Source)
One example is the 666 or axiom implants used as preventative measure of infecting higher dimensions. (Source)
In the crystal body again moving down and resetting those patterns of the base pulse rhythm, disconnect magnetic axiom lines that are running transposition filters and miasma programs. Correction of miasma programs and transposition filters through each of the magnetic axiom lines and resetting each of the grid structures into the proper magnetic field and electromagnetic, this is phase pulsing or something it's the way the energy pulses through the rhythms of the body. And that is in the reset of the etheric physical seals where the monad can control the body. (Source)
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noelthybo14 · 1 year
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SARS-CoV-2 Genome Collection from Morocco, Attained Using Ion AmpliSeq Technologies
MicroRNAs (miRNAs) seem to be essential players in the repair off genomic honesty. Recent evidence signifies that malignancies typically stay away from miRNA-mediated regulation, as well as worldwide repression associated with miRNAs is owned by elevated tumorigenicity. Have a look at claim that miRNAs are right mixed up in the repair off genomic honesty through world-wide repression involving transposable factors (TEs), whoever appearance and also transposition are well-documented factors behind genomic lack of stability within mammalian somatic flesh. For this reason, a single result of the actual tumor's capacity to prevent miRNA-mediated regulation may be the enhancement involving genomic uncertainty and mutability as a result of derepression regarding TEs. We all format feasible mechanisms root TE repression through miRNAs, such as post-transcriptional silencing and also transcriptional silencing by way of Genetics along with histone methylation. This particular hypothesis telephone calls under consideration the need to read the position regarding miRNAs and also the RNAi devices from the nucleus, as well as especially their particular impact on the constant maintenance of genomic strength in the context of cancer malignancy.Two seeds buildup hardware are usually compared on this paper: a typical Self Ionized Plasma (SIP) standard step plus a fresh technology holding chamber enabling Cu deposition and re-sputtering simultaneously. TEM characterizations demonstrates greater characteristics protection for brand spanking new seedling technology give thanks to for you to selleckchem method okay focusing. That triggers defectivity enhancement and avoid density will be lowered along with brand-new hardware. In addition, stability performances tend to be improved with no degrading parametrical benefits. (H) 2010 Elsevier B./. All legal rights set aside.Framework Feelings within health care schooling is situated between the idealised along with the hidden, seated uneasily at the 4 way stop involving target truth and subjective values. Evaluating different ways that emotion is actually theorised within medical training is essential for assorted reasons. Most significant is the probability that ideas with regards to emotion may notify any much wider idea of the process of skill and dependability. OBJECTIVES The present cardstock has an summary of three current discourses regarding emotion inside medical education and learning as well as the ways in which that they activate distinct skilled expectations about feelings in practice. METHODS The Foucauldian vital discussion research medical education novels was completed. Keywords and phrases, key phrases along with metaphors linked to feeling were looked at for his or her results inside framing medical socialisation functions. DISCUSSION Regardless of the growing acknowledgement over the past twenty years regarding sentiment because 'socially constructed', the vista regarding emotion because individualised is deeply baked into the words and also conceptual frameworks. The particular discourses which tell each of our emotion chat and use as instructors along with medical researchers are very important to consider for the consequences they've got on proficiency along with expert id, and so on doctor along with affected person well-being. Widened understanding of how feelings is actually 'put for you to work' inside health-related education and learning may make obvious the invisible along with unexamined sentiment schemas that provide to reproduce problematic professional habits.
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mckeeespinoza · 2 years
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Tissue-type plasminogen activator as well as plasminogen activator chemical kind One inch people together with systematic lower extremity artery illness
Nevertheless, the additional induction with this technique by simply low flat iron concentrations had been outside of HOG1.Portable components are widely seen in eukaryotic genomes. These are repetitive Genetic make-up sectors that can alternate from one particular locus to another inside the genome. These are separated into a pair of major types, depending on their own mechanism involving transposition, involving RNA (class My spouse and i) or even Genetic (type The second) substances. The particular mariner-like aspects are class The second Baf-A1 price transposons. They will encode their own transposase, which can be essential and sufficient with regard to transposition in the absence of web host aspects. They're flanked by a short upside down fatal do it again plus a TA dinucleotide targeted web site, which can be copied about insertion. The actual transposase consists of a couple of domain names, a great N-terminal inside-out terminal do it again presenting area plus a C-terminal catalytic site. We all determined the transposable element using molecular characteristics of the mariner-like consider Atta sexdens rubropilosa genome. Identification started out coming from a PCR with degenerate primers and full genomic Genetics themes, with which it absolutely was very easy to increase a fragment together with mariner transposable-element homology. Phylogenetic evaluation revealed that this element belongs to the mauritiana subfamily involving mariner-like components also it has been named Asmar1. We all learned that Asmar1 can be homologous to a transposon explained from yet another ant, Messor bouvieri. The predicted transposase series indicated that Asmar1 features a cut down transposase ORF. This research belongs to the molecular depiction regarding cellular factors in the Atta spp genome. Our locating associated with mariner-like components in most castes of the ish could be useful to aid comprehend the character regarding mariner-like element submitting in the Hymenoptera.A greater idea of your physical activity habits of an individual that endure bariatric surgery can enable the growth and development of successful post-surgical workout guidelines as well as surgery to improve weight loss results. This research recognized the particular physical activity user profile and also bodily function of 40 subject matter 2-5 decades post-bariatric surgical treatment and also analyzed your affiliation among exercise, actual physical function, and also fat loss soon after medical procedures. Moderate-to-vigorous strength exercising (MVPA) was considered with the BodyMedia SenseWearA (Third) Pro (SWPro) armband, and physical perform (PF) has been measured while using bodily function subscale in the 36-Item Brief Form Wellbeing Survey instrument (SF-36(PF)). Weight and height had been calculated. Percent involving extra weight loss (%EWL) ended up being associated with MVPA (r = 0.Forty four, p Equates to 2.09) along with PF (r Equals 2.Thirty eight, g = 2.02); MVPA wasn't linked to PF (3rd r = 2.24, p Is equal to 3.14). Regression analysis established that MVPA has been linked to %EWL (experiment with = Zero.37, t = A couple of.43, r = 2.02). Subject matter which participated in a parts every thousand yen150 min/week of MVPA stood a increased %EWL (68.
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duffylyng0 · 2 years
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