Bio101 charfauros week2 Copyright 2013 Edward F. T. Charfauros
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Edward F. T. Charfauros, inspiring author, assists fellow students with their presentation for a successful grade. He also blogs upon his own inspiring blog, where you'll discover life changing stuff. Sign up for his blog by sending him an email~ Copyright 2013 Edward F. T. Charfauros. Reference, www.YourBlogorResume.net.
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Genetics ch. 4 power point
This document discusses several topics related to human genetics and inheritance:
- Single gene traits in humans like widow's peak and dimples are controlled by dominant and recessive alleles.
- Blood type is determined by multiple alleles at a single gene locus.
- Height and skin color are polygenic traits controlled by multiple genes interacting together.
- A person's environment can also influence their traits, such as diet and medical care affecting height.
- Sex is determined by the X and Y chromosomes, with females having XX and males having XY.
Genetic disorder
This presentation is based on genetic disorders. It is a vast topic and I have tried to focus on autosomal disorders along with a general introduction.
Human heredity
Human heredity is determined by chromosomes and genes. There are 22 pairs of autosomes and one pair of sex chromosomes, which are either XX in females or XY in males. Genes located on the sex chromosomes, including the X chromosome, can be inherited in sex-linked patterns. Pedigree analysis is used to study inheritance patterns by examining traits over multiple generations in families. Autosomal traits can be inherited dominantly, recessively, or multifactorial based on environmental influences. Examples are provided of several genetic disorders and their modes of inheritance.
Autosomal and sexual aneuploidy2
The document discusses several types of aneuploidy resulting from errors in meiosis. Klinefelter syndrome affects males with an XXY genotype. Turner syndrome affects females with a single X chromosome. Down syndrome is caused by trisomy of chromosome 21. XYY syndrome affects males with an extra Y chromosome, while XXX or triple X syndrome affects females with an extra X chromosome. These conditions demonstrate how aneuploidy arises from nondisjunction errors during meiosis and can impact sex chromosomes or autosomes.
Pedigree analysis presentation
Geneticists use pedigrees to study human inheritance and disease patterns in families. A pedigree is a family tree that shows which relatives have a particular characteristic or disease. By analyzing pedigrees, geneticists can determine the mode of inheritance such as autosomal recessive, autosomal dominant, X-linked recessive, X-linked dominant, or Y-linked. Each mode of inheritance displays distinct patterns in terms of who is affected and whether it skips generations.
Chromosomalinheritance 100807040928-phpapp02
Chromosomes contain genes and determine inheritance patterns. During meiosis, chromosome pairs segregate and assort independently. Sex chromosomes determine biological sex - females are XX and males are XY. X-linked traits affect males more due to hemizygosity. Nondisjunction can result in chromosomal abnormalities like Down syndrome. Structural changes like inversions, translocations, deletions and duplications also impact inheritance. Linkage maps gene position and crossover frequency. Different modes of inheritance exist like autosomal dominant, recessive, and X-linked traits.
Dwarfism
Dwarfism is a condition characterized by short stature and can be caused by over 200 genetic and medical conditions. There are two main types: disproportionate dwarfism where the trunk is average size but the limbs are shortened, and proportionate dwarfism where all body parts are shortened proportionately. Treatment depends on the type - disproportionate dwarfism may be treated with surgery to lengthen bones while proportionate dwarfism can use hormone treatments like growth hormone to increase height. While dwarfism cannot be prevented, early diagnosis and treatment can help reduce its impacts on quality of life.
Dwarfism
Dwarfism is defined as an adult height of 4'10" or under and results from medical conditions that affect growth. It can be caused by metabolic disorders during infancy/childhood, chromosomal abnormalities, pituitary gland disorders, kidney disease, or problems absorbing nutrients. Anyone can be affected by dwarfism, as it can result from genetic mutations. The most common form is achondroplasia, which causes features like an enlarged head and bowed legs. Other types include spondyloepiphyseal dysplasias and diastrophic dysplasia. Dwarfism is diagnosed through physical exams, x-rays at birth or later genetic testing, and can be treated with physical and occupational therapy.
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Genetics ch. 4 power point
This document discusses several topics related to human genetics and inheritance:
- Single gene traits in humans like widow's peak and dimples are controlled by dominant and recessive alleles.
- Blood type is determined by multiple alleles at a single gene locus.
- Height and skin color are polygenic traits controlled by multiple genes interacting together.
- A person's environment can also influence their traits, such as diet and medical care affecting height.
- Sex is determined by the X and Y chromosomes, with females having XX and males having XY.
Genetic disorder
This presentation is based on genetic disorders. It is a vast topic and I have tried to focus on autosomal disorders along with a general introduction.
Human heredity
Human heredity is determined by chromosomes and genes. There are 22 pairs of autosomes and one pair of sex chromosomes, which are either XX in females or XY in males. Genes located on the sex chromosomes, including the X chromosome, can be inherited in sex-linked patterns. Pedigree analysis is used to study inheritance patterns by examining traits over multiple generations in families. Autosomal traits can be inherited dominantly, recessively, or multifactorial based on environmental influences. Examples are provided of several genetic disorders and their modes of inheritance.
Autosomal and sexual aneuploidy2
The document discusses several types of aneuploidy resulting from errors in meiosis. Klinefelter syndrome affects males with an XXY genotype. Turner syndrome affects females with a single X chromosome. Down syndrome is caused by trisomy of chromosome 21. XYY syndrome affects males with an extra Y chromosome, while XXX or triple X syndrome affects females with an extra X chromosome. These conditions demonstrate how aneuploidy arises from nondisjunction errors during meiosis and can impact sex chromosomes or autosomes.
Pedigree analysis presentation
Geneticists use pedigrees to study human inheritance and disease patterns in families. A pedigree is a family tree that shows which relatives have a particular characteristic or disease. By analyzing pedigrees, geneticists can determine the mode of inheritance such as autosomal recessive, autosomal dominant, X-linked recessive, X-linked dominant, or Y-linked. Each mode of inheritance displays distinct patterns in terms of who is affected and whether it skips generations.
Chromosomalinheritance 100807040928-phpapp02
Chromosomes contain genes and determine inheritance patterns. During meiosis, chromosome pairs segregate and assort independently. Sex chromosomes determine biological sex - females are XX and males are XY. X-linked traits affect males more due to hemizygosity. Nondisjunction can result in chromosomal abnormalities like Down syndrome. Structural changes like inversions, translocations, deletions and duplications also impact inheritance. Linkage maps gene position and crossover frequency. Different modes of inheritance exist like autosomal dominant, recessive, and X-linked traits.
Dwarfism
Dwarfism is a condition characterized by short stature and can be caused by over 200 genetic and medical conditions. There are two main types: disproportionate dwarfism where the trunk is average size but the limbs are shortened, and proportionate dwarfism where all body parts are shortened proportionately. Treatment depends on the type - disproportionate dwarfism may be treated with surgery to lengthen bones while proportionate dwarfism can use hormone treatments like growth hormone to increase height. While dwarfism cannot be prevented, early diagnosis and treatment can help reduce its impacts on quality of life.
Dwarfism
Dwarfism is defined as an adult height of 4'10" or under and results from medical conditions that affect growth. It can be caused by metabolic disorders during infancy/childhood, chromosomal abnormalities, pituitary gland disorders, kidney disease, or problems absorbing nutrients. Anyone can be affected by dwarfism, as it can result from genetic mutations. The most common form is achondroplasia, which causes features like an enlarged head and bowed legs. Other types include spondyloepiphyseal dysplasias and diastrophic dysplasia. Dwarfism is diagnosed through physical exams, x-rays at birth or later genetic testing, and can be treated with physical and occupational therapy.
Sex linked inheritance diseases
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Aarskog syndrome
- Aarskog-Scott Syndrome is a genetic disorder caused by mutations in the FGD1 gene, affecting development and causing distinctive facial features and limb abnormalities.
- It mainly affects males and causes short stature, hand abnormalities like short fingers and single palm creases, and genital abnormalities like shawl scrotum.
- There is no cure, but treatment focuses on improving quality of life through procedures to correct physical abnormalities, growth hormone therapy, education support, and genetic counseling.
Hereditary diseases
There are several classes of hereditary diseases:
1) Diseases of simple genetic architecture are caused by a single gene and follow recognizable patterns of inheritance. They are usually rare.
2) Diseases of complex genetic architecture do not have clear patterns of inheritance and are influenced by multiple genes and the environment. They are more common.
3) Genetic disorders can be caused by abnormalities in chromosomes, single genes, or a combination of genetic and environmental factors. They result in conditions like cystic fibrosis, sickle cell anemia, muscular dystrophy, and Down syndrome. Changes in chromosome number, structure, or sex chromosomes can also cause genetic disorders.
Klinefelter Syndrome
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also have primary hypogonadism (decreased testosterone
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Genetic disorders
This document provides an overview of genetic disorders including their causes, inheritance, diagnosis, and treatment. It discusses how genetic disorders occur due to mutations in genes that affect protein production. Diagnosis involves examining family histories, conducting genetic tests, and looking for characteristic physical features. Common genetic disorders like Down syndrome, Huntington's disease, and Duchenne muscular dystrophy are described. Treatment focuses on managing symptoms while prognosis depends on the specific disorder. The objectives are to help audiences understand genetic disorders, inheritance patterns, diagnosis strategies and common examples.
Genetics ppt
This document provides information about three genetic disorders: Turner's syndrome, Down's syndrome, and Klinefelter's syndrome. It discusses what each disorder is, its causes and prevalence, methods of diagnosis, and potential treatments. Turner's syndrome affects females and is caused by missing an X chromosome. Down's syndrome results from a third copy of chromosome 21 and causes cognitive impairment. Klinefelter's syndrome occurs in males due to an extra X chromosome.
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This document contains a series of slides explaining autosomal dominant inheritance from parents to children. The slides show that autosomal dominant conditions are caused by alterations in genes located on chromosomes other than the sex chromosomes. If one parent has the altered gene and passes it on to their child, the child has a 50% chance of inheriting the condition. An example is provided of a family where raised cholesterol is inherited in this autosomal dominant pattern. The slides are intended to demonstrate autosomal dominant inheritance for teaching purposes.
Explanation of X-Linked inheritance
This document contains a series of slides explaining X-linked inheritance patterns. It begins with slides showing the human chromosomes and sex chromosomes. It then describes X-linked recessive inheritance when the mother is a carrier or the father has the condition. Next, it covers X-linked dominant inheritance when the mother has the condition. For X-linked dominant, affected sons may not survive and fewer sons than expected may be seen in families. The document aims to teach genetics through these inheritance pattern examples.
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Chromosomal abnormalities
This document discusses several chromosomal abnormalities including Down syndrome, Turner syndrome, Patau syndrome, and Edwards syndrome. It provides details on the characteristics, causes, diagnosis and management of each condition. Down syndrome results from trisomy 21 and is associated with developmental delays, congenital heart defects, increased risk of leukemia and thyroid disorders. Turner syndrome occurs when one X chromosome is missing and affects growth and fertility in girls. Patau and Edwards syndromes are trisomies of chromosomes 13 and 18 respectively, often causing multiple physical abnormalities and intellectual disability. Prenatal screening and testing can help identify these conditions.
down syndrome and klinefelters syndrome
This document summarizes two genetic conditions: Down syndrome and Klinefelter syndrome. Down syndrome is caused by trisomy 21 and results in characteristic physical features and developmental delays. It is the most common chromosomal disorder. Klinefelter syndrome is caused by one or more extra X chromosomes in males and results in reduced testosterone and infertility. Both conditions are diagnosed through karyotyping to identify abnormal chromosome counts.
Fragile x syndrome
Fragile X syndrome is a genetic condition caused by a mutation on the X chromosome that prevents the FMR1 gene from working properly. This prevents the production of a protein needed for normal brain development, leading to intellectual disabilities and learning issues. Boys typically show more severe symptoms than girls. While there is no cure, early intervention and treatments can help maximize each child's potential. Affected individuals often require support their whole lives, and fragile X syndrome places a significant burden on families and society.
Down syndrome
Down syndrome is a genetic condition where a person has three copies of chromosome 21 instead of the usual two. This extra genetic material causes developmental delays and other issues. Down syndrome can range from mild to severe depending on the individual. Over 90% of Down syndrome cases are caused by trisomy 21, where there are three copies of chromosome 21. Physical signs include a flattened nose, small ears and mouth, upward slanting eyes, and short hands and fingers. The risk of having a child with Down syndrome increases with the mother's age. Complications can include heart defects, leukemia, and early-onset Alzheimer's disease.
DOWNS SYNDROME (PPT)
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It causes lifelong intellectual disability and developmental delays. There are three main types of Down syndrome - Trisomy 21, Mosaic Down syndrome, and Translocation Down syndrome. Trisomy 21 accounts for 95% of cases and is caused by abnormal cell division during conception. While Down syndrome cannot be prevented or cured, early intervention programs can help children with Down syndrome develop important skills and abilities. Individuals with Down syndrome also often face increased health risks such as heart defects and dementia. However, with medical advances, the average life expectancy for people with Down syndrome is now over 50 years.
Fragile x syndrome
Fragile X syndrome is a genetic condition caused by a mutation in the FMR1 gene that results in a CGG DNA segment being repeated over 200 times, rather than the normal 5-40 times. It causes a range of developmental problems including learning disabilities and cognitive impairment, with males usually more severely affected than females. The mutant allele is passed from an affected man to all his daughters, who are carriers but do not express the syndrome, while sons can express it. A carrier woman passes the allele to half her sons and daughters, with sons expressing it and daughters usually not. The risk of offspring depends on whether the parent is affected, a carrier, or normal.
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This document discusses various patterns of inheritance through the use of pedigree analysis including autosomal recessive, autosomal dominant, X-linked, and mitochondrial inheritance. Key points include how each type of inheritance is represented in a pedigree through symbols and whether traits skip generations, if both sexes are affected equally, and if unaffected parents can have affected children. Various genetic disorders are provided as examples for each inheritance pattern.
Xyy - a genetic disorder
XYY syndrome is a genetic condition where males have 47 chromosomes due to an extra Y chromosome. It occurs in about 1 in 1,000 male births. The extra Y chromosome results from a nondisjunction event in parental gamete formation or shortly after conception. Individuals with XYY syndrome are typically taller than average and may experience learning disabilities or behavioral issues. While early studies linked XYY syndrome to increased aggression, later research found no definitive behavioral phenotype and intelligence is usually in the normal range.
Edward's Syndrome
Edwards syndrome is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. It is the second most common autosomal trisomy after Down syndrome. The majority of fetuses with Edwards syndrome die before birth and those that survive often have heart abnormalities, kidney malformations, and other organ disorders. Prenatal testing like amniocentesis or chorionic villus sampling is used to diagnose Edwards syndrome by analyzing fetal chromosomal material to detect the additional copy of chromosome 18.
Modes of autosomal and sex linked inheritance
This document discusses different modes of inheritance including autosomal dominant, autosomal recessive, X-linked recessive, and X-linked dominant inheritance. Autosomal dominant inheritance involves a 50% risk of passing on a trait with each pregnancy, affects both sexes equally, and shows no generational gaps. Autosomal recessive inheritance typically involves unaffected carrier parents who have a 25% risk of passing on the recessive trait with each pregnancy. X-linked recessive traits mainly affect males and carrier females have a 50% risk of passing the trait to sons or daughters, respectively. X-linked dominant traits affect females more than males.
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Sex linked inheritance diseases
sex linked inhertance diseses - x linked - dominant -fragile x syndrome -recessive -.colour blindness
y linked- diseases- y cchromosome infertity
Aarskog syndrome
- Aarskog-Scott Syndrome is a genetic disorder caused by mutations in the FGD1 gene, affecting development and causing distinctive facial features and limb abnormalities.
- It mainly affects males and causes short stature, hand abnormalities like short fingers and single palm creases, and genital abnormalities like shawl scrotum.
- There is no cure, but treatment focuses on improving quality of life through procedures to correct physical abnormalities, growth hormone therapy, education support, and genetic counseling.
Hereditary diseases
There are several classes of hereditary diseases:
1) Diseases of simple genetic architecture are caused by a single gene and follow recognizable patterns of inheritance. They are usually rare.
2) Diseases of complex genetic architecture do not have clear patterns of inheritance and are influenced by multiple genes and the environment. They are more common.
3) Genetic disorders can be caused by abnormalities in chromosomes, single genes, or a combination of genetic and environmental factors. They result in conditions like cystic fibrosis, sickle cell anemia, muscular dystrophy, and Down syndrome. Changes in chromosome number, structure, or sex chromosomes can also cause genetic disorders.
Klinefelter Syndrome
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also have primary hypogonadism (decreased testosterone
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Genetic disorders
This document provides an overview of genetic disorders including their causes, inheritance, diagnosis, and treatment. It discusses how genetic disorders occur due to mutations in genes that affect protein production. Diagnosis involves examining family histories, conducting genetic tests, and looking for characteristic physical features. Common genetic disorders like Down syndrome, Huntington's disease, and Duchenne muscular dystrophy are described. Treatment focuses on managing symptoms while prognosis depends on the specific disorder. The objectives are to help audiences understand genetic disorders, inheritance patterns, diagnosis strategies and common examples.
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This document provides information about three genetic disorders: Turner's syndrome, Down's syndrome, and Klinefelter's syndrome. It discusses what each disorder is, its causes and prevalence, methods of diagnosis, and potential treatments. Turner's syndrome affects females and is caused by missing an X chromosome. Down's syndrome results from a third copy of chromosome 21 and causes cognitive impairment. Klinefelter's syndrome occurs in males due to an extra X chromosome.
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Slides to accompany RALLI presentation: An extra X or Y chromosome: a rare cause of language impairment.
see http://www.youtube.com/RALLIcampaign/
Explanation of autosomal dominant inheritance
This document contains a series of slides explaining autosomal dominant inheritance from parents to children. The slides show that autosomal dominant conditions are caused by alterations in genes located on chromosomes other than the sex chromosomes. If one parent has the altered gene and passes it on to their child, the child has a 50% chance of inheriting the condition. An example is provided of a family where raised cholesterol is inherited in this autosomal dominant pattern. The slides are intended to demonstrate autosomal dominant inheritance for teaching purposes.
Explanation of X-Linked inheritance
This document contains a series of slides explaining X-linked inheritance patterns. It begins with slides showing the human chromosomes and sex chromosomes. It then describes X-linked recessive inheritance when the mother is a carrier or the father has the condition. Next, it covers X-linked dominant inheritance when the mother has the condition. For X-linked dominant, affected sons may not survive and fewer sons than expected may be seen in families. The document aims to teach genetics through these inheritance pattern examples.
Genetics in a Pediatric Setting
This document discusses genetic counseling in a pediatric setting. It describes genetic counseling as helping people understand genetic contributions to disease by interpreting family histories, providing education, and promoting informed choices. The document outlines areas of genetic counseling practice like prenatal, pediatrics, and cancer risk assessment. It also summarizes several single-gene disorders and inheritance patterns, like autosomal recessive cystic fibrosis and X-linked Duchenne muscular dystrophy. Ethical considerations in genetic testing and conditions for genetic counseling referrals are also mentioned.
Chromosomal abnormalities
This document discusses several chromosomal abnormalities including Down syndrome, Turner syndrome, Patau syndrome, and Edwards syndrome. It provides details on the characteristics, causes, diagnosis and management of each condition. Down syndrome results from trisomy 21 and is associated with developmental delays, congenital heart defects, increased risk of leukemia and thyroid disorders. Turner syndrome occurs when one X chromosome is missing and affects growth and fertility in girls. Patau and Edwards syndromes are trisomies of chromosomes 13 and 18 respectively, often causing multiple physical abnormalities and intellectual disability. Prenatal screening and testing can help identify these conditions.
down syndrome and klinefelters syndrome
This document summarizes two genetic conditions: Down syndrome and Klinefelter syndrome. Down syndrome is caused by trisomy 21 and results in characteristic physical features and developmental delays. It is the most common chromosomal disorder. Klinefelter syndrome is caused by one or more extra X chromosomes in males and results in reduced testosterone and infertility. Both conditions are diagnosed through karyotyping to identify abnormal chromosome counts.
Fragile x syndrome
Fragile X syndrome is a genetic condition caused by a mutation on the X chromosome that prevents the FMR1 gene from working properly. This prevents the production of a protein needed for normal brain development, leading to intellectual disabilities and learning issues. Boys typically show more severe symptoms than girls. While there is no cure, early intervention and treatments can help maximize each child's potential. Affected individuals often require support their whole lives, and fragile X syndrome places a significant burden on families and society.
Down syndrome
Down syndrome is a genetic condition where a person has three copies of chromosome 21 instead of the usual two. This extra genetic material causes developmental delays and other issues. Down syndrome can range from mild to severe depending on the individual. Over 90% of Down syndrome cases are caused by trisomy 21, where there are three copies of chromosome 21. Physical signs include a flattened nose, small ears and mouth, upward slanting eyes, and short hands and fingers. The risk of having a child with Down syndrome increases with the mother's age. Complications can include heart defects, leukemia, and early-onset Alzheimer's disease.
DOWNS SYNDROME (PPT)
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It causes lifelong intellectual disability and developmental delays. There are three main types of Down syndrome - Trisomy 21, Mosaic Down syndrome, and Translocation Down syndrome. Trisomy 21 accounts for 95% of cases and is caused by abnormal cell division during conception. While Down syndrome cannot be prevented or cured, early intervention programs can help children with Down syndrome develop important skills and abilities. Individuals with Down syndrome also often face increased health risks such as heart defects and dementia. However, with medical advances, the average life expectancy for people with Down syndrome is now over 50 years.
Fragile x syndrome
Fragile X syndrome is a genetic condition caused by a mutation in the FMR1 gene that results in a CGG DNA segment being repeated over 200 times, rather than the normal 5-40 times. It causes a range of developmental problems including learning disabilities and cognitive impairment, with males usually more severely affected than females. The mutant allele is passed from an affected man to all his daughters, who are carriers but do not express the syndrome, while sons can express it. A carrier woman passes the allele to half her sons and daughters, with sons expressing it and daughters usually not. The risk of offspring depends on whether the parent is affected, a carrier, or normal.
Pedigree
This document discusses various patterns of inheritance through the use of pedigree analysis including autosomal recessive, autosomal dominant, X-linked, and mitochondrial inheritance. Key points include how each type of inheritance is represented in a pedigree through symbols and whether traits skip generations, if both sexes are affected equally, and if unaffected parents can have affected children. Various genetic disorders are provided as examples for each inheritance pattern.
Xyy - a genetic disorder
XYY syndrome is a genetic condition where males have 47 chromosomes due to an extra Y chromosome. It occurs in about 1 in 1,000 male births. The extra Y chromosome results from a nondisjunction event in parental gamete formation or shortly after conception. Individuals with XYY syndrome are typically taller than average and may experience learning disabilities or behavioral issues. While early studies linked XYY syndrome to increased aggression, later research found no definitive behavioral phenotype and intelligence is usually in the normal range.
Edward's Syndrome
Edwards syndrome is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. It is the second most common autosomal trisomy after Down syndrome. The majority of fetuses with Edwards syndrome die before birth and those that survive often have heart abnormalities, kidney malformations, and other organ disorders. Prenatal testing like amniocentesis or chorionic villus sampling is used to diagnose Edwards syndrome by analyzing fetal chromosomal material to detect the additional copy of chromosome 18.
Modes of autosomal and sex linked inheritance
This document discusses different modes of inheritance including autosomal dominant, autosomal recessive, X-linked recessive, and X-linked dominant inheritance. Autosomal dominant inheritance involves a 50% risk of passing on a trait with each pregnancy, affects both sexes equally, and shows no generational gaps. Autosomal recessive inheritance typically involves unaffected carrier parents who have a 25% risk of passing on the recessive trait with each pregnancy. X-linked recessive traits mainly affect males and carrier females have a 50% risk of passing the trait to sons or daughters, respectively. X-linked dominant traits affect females more than males.
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This document discusses the glass ceiling phenomenon and its effects on women's advancement. It defines the glass ceiling as an invisible barrier that prevents women and minorities from rising to upper-level positions, regardless of their qualifications. Some factors that contribute to the glass ceiling are dual responsibilities at home and work for women, stereotypes and biases, and gender segmentation in certain fields with lower earnings. The document also provides examples of glass ceiling effects in Malaysia, such as different retirement ages for men and women. It recommends examining organizational culture and driving change through management commitment to help break the glass ceiling.
A2 pop video analysis bernice kini
This document provides an analysis of Alicia Keys' music video for her song "If I Ain't Got You". It includes background on Keys and details about the song and video. The analysis discusses how the visuals serve to reach a young demographic while contradicting the song's emphasis on superficiality. It also notes how the video glamorizes Keys' musical talent while projecting her as unaffected by fame and promoting empowerment over objectification.
Kegemaran saya
This document summarizes the author's hobbies and interests which include playing guitar and futsal, cooking, sleeping, and listening to music. They enjoy foods like burgers, maggi, and bakso. Places they want to visit are the Ka'abah in Mecca, Disneyland in Japan, and football stadiums in Manchester and Korea. Favorite songs listed are by Linkin Park, Pierce the Veil, and Malaysian artists. The author's dreams include owning a 125Z motorcycle and Satria Neo car.
Representations in Horror Movies
Traditionally in horror films, women are portrayed as damsels in distress who are usually attacked and murdered for committing sinful acts. For example, in the film Carrie, Carrie White is bullied and tormented as an outsider while her religious mother sees female sexuality as sinful. However, with the rise of feminism, modern horror films now show powerful women as heroes and villains rather than only victims, reflecting societal changes in perceptions of women's roles. Whereas older films focused on gender representations, newer horror films emphasize global fears like terrorism and portray both men and women working together to overcome threats rather than dividing along gender lines.
Untitled Presentation
This short document promotes creating presentations using Haiku Deck, a tool for making slideshows. It encourages the reader to get started making their own Haiku Deck presentation and sharing it on SlideShare. In a single sentence, it pitches the idea of using Haiku Deck to easily design presentations.
Radio advert feedback
Our research through a radio advertisement was useful in promoting our documentary and received positive feedback from listeners. While the quality of sound was rated very good, future advertisements could be improved with better equipment or editing to make the audio more clear. Viewers suggested making the radio advert scarier with more sound effects, which we would implement if doing another advertisement.
Lean Startup101 2014-05-07
The document provides an overview of Lean Startup principles and methods. It discusses core concepts like validated learning and building-measuring-learning. Entrepreneurs are encouraged to eliminate uncertainty by developing minimum viable products and experiments to fail faster and succeed faster. Various techniques are presented to learn faster like split testing, continuous integration/deployment, and usability testing in order to build and measure faster. Tools like the lean canvas and business model canvas are recommended to identify assumptions and prioritize validating hypotheses.
The Brazilian Protests of June 2013: an economist's view
Matheus Albergaria de Magalhães - Seminário do Programa de Educação Tutorial de Economia (PET-Economia). Salão Azul (Prédio da Diretoria), Universidade Federal do Espírito Santo (UFES), Vitória, 05 de Fevereiro de 2014.
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Similar to Bio101 charfauros week2 Copyright 2013 Edward F. T. Charfauros
SexLinkage2.ppt
The sex of an individual is determined by the sex chromosomes contributed by the sperm and egg, with the sperm determining whether an X or Y chromosome is donated. Thomas Morgan studied sex-linked inheritance in fruit flies and discovered that eye color was located on the X chromosome. Some traits are located on the sex chromosomes and their inheritance depends on the parent's sex. Many known sex-linked traits are X-linked due to the X chromosome's larger size. Examples of sex-linked disorders include hemophilia, color blindness, and Duchenne muscular dystrophy.
syndromes of humans.pptx
X-linked recessive traits are inherited in a pattern where females can be carriers but typically do not exhibit symptoms, while males with a single copy of the recessive gene will exhibit the trait. Examples of X-linked recessive conditions discussed in the document include red-green color blindness and hemophilia A. Color blindness affects approximately 1 in 12 men and results in the inability to distinguish between certain colors, while hemophilia A is a bleeding disorder caused by a lack of clotting factor VIII. Other genetic conditions discussed include Down syndrome, Turner syndrome, and Klinefelter syndrome.
SexLinkage2.ppt
The document discusses sex determination and sex-linked inheritance and disorders. It explains that sex is determined by the sex chromosomes contributed by the sperm and egg, with females typically providing an X chromosome and males providing either an X or Y chromosome. It describes how some traits are located on the sex chromosomes and are thus sex-linked in their inheritance. Examples of sex-linked traits and disorders are provided, such as hemophilia and color blindness, with males being at greater risk for sex-linked recessive disorders. Punnett squares and pedigrees are discussed as tools for predicting sex-linked inheritance patterns.
geneticsppt-150127002045-conversion-gate01.ppt
This document discusses several topics related to genetics and heritable traits:
- Handedness, hair curliness, allergies, and other traits can be inherited through single genes or combinations of genes with dominant and recessive alleles.
- Pedigree charts are used to represent family histories and track the inheritance of traits across generations. They use symbols to denote relationships and presence of traits.
- Autosomal traits can be inherited in dominant or recessive patterns, with dominant traits expressed in heterozygotes and recessive only in homozygous individuals.
- X-linked traits differ in that females have two X chromosomes and males one, affecting likelihood of expression and transmission to offspring.
- Real-
2 3 4 5 Mode of inheritance- Mode of inheritance-Inheritance of an X-l.pdf
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3
4
5
Mode of inheritance? Mode of inheritance? Inheritance of an X -linked recessive trait Red-green
color blindness is X-linked in humans. If a male is red-green color blind, and both parents have
normal color vision, which of the male's grandparents is most likely to be red-green color blind?
maternal grandmother maternal grandfather paternal grandmother paternal grandfather either
grandfather is equally likely Inheritance pattern for Tay Sachs disease A couple has a female
child with Tay Sachs disease, and three unaffected children. Neither parent nor any of the four
biological grandparents of the affected child has had this disease. The most likely genetic
explanation is that Tay Sachs disease is inherited as a(n) disease. Predicting inheritance pattern
from pedigree analysis A man whe had purple ears came to the attention of a human gencticist.
The human geneticist did a pedigree analysis and made the following observations: In this
family, purple ears proved to be an inherited trait due to a single genetic locus. The man's mother
and one sister also had purple ears, but his father, his brother, and two other sisters had normal
ears. The man and his normal-eared wife had seven children, including four boys and three girls.
Two girls and two boys had purple ears. The purple-ear trait is most probably: autosomal,
dominant autosomal, recessive sex-linked, dominant sex-linked. recessive cannot be determined
from this information Determine the probable mechanism of inheritance: Autosomal recessive
Autosomal dominant X-linked dominant X -linked recessive Y -linked recessive. Mitochondrial
Determine the probable mechanism of inheritance: Autosomal recessive Autosomal dominant X-
linked dominant X-linked recessive Y-linked recessive Mitochondrial Determine the probable
mechanism of inheritance: Autosomal recessive Autosomal dominant X-linked dominant X-
linked recessive Y-linked recessive Mitochondrial A man who had purple ears came to the
attention of a haman gencticist, The haman geneticist did a peligree ansalysis and made the
following observations: In this family. purple eark proved to be an inberited trait due to a single
genetic locis. The man's mother and one sister also bad purple ears, but his father. his brotber.
and two oker sisters had notmal ears. The mant and his normal-cared wife had seven children.
including four boys and three girls. Two girls and two boys had purple ears. The porple-ear trait
is most probably: autosomal, dominant autasional, recessive sor-linked. dominut sex-linked.
nesessive cannot be determined from this information Determine the probable mechanism of
inheritance:.
Topic: "Sex-Linkage and Recombination"
Sex linkage refers to traits whose expression is dependent on an individual's sex chromosomes. Thomas Morgan first discovered sex linkage in 1910 through an experiment with white-eyed male fruit flies. Sex linkage can occur through X-linked traits, which are located on the X chromosome, or Y-linked traits located on the Y chromosome. Examples of X-linked traits discussed are color blindness, hemophilia, and fragile X syndrome. An example of a Y-linked trait is hypertrichosis pinnae auris. Sex-influenced and sex-limited traits are also discussed.
Sexlinked1
X-linked traits show different patterns of inheritance in males and females due to females having two X chromosomes and males having one X chromosome and a Y chromosome. For X-linked recessive traits, males will always be affected if they inherit the mutated gene from their mother, while females will only be affected if they inherit the mutated gene from both parents. Examples of X-linked recessive traits include hemophilia and Duchenne muscular dystrophy. Fragile X syndrome is an example of an X-linked dominant trait where females can be affected by inheriting only one copy of the mutated gene.
human genetics.pptx
this presentation about human genetics, history of development, related diseases. Who contributed to the development of the subject.
Sex linked recessive inheritence
This document discusses sex-linked and X-linked inheritance patterns. It provides information on pedigree analysis and the four main inheritance patterns: autosomal recessive, autosomal dominant, X-linked recessive, and X-linked dominant. For X-linked traits, it notes that males are typically affected for recessive traits since they do not have a second X chromosome to provide the working gene. It provides examples of color blindness and hemophilia to illustrate X-linked recessive inheritance and how traits can skip generations and be passed from carrier mothers to affected sons.
Sex linked inheritance pedigree 2016.ppt
This document discusses sex-linked inheritance of traits in organisms. It explains that sex-linked traits are carried on the X or Y chromosome. Since females have two X chromosomes and males have one X and one Y, this means that some genetic disorders will predominantly affect males. The document provides examples of several genetic disorders that are sex-linked, such as color blindness, hemophilia, Duchenne muscular dystrophy, and albinism. It also explains how to determine the probability of offspring inheriting sex-linked traits using a Punnett square.
Sex linked inheritance pedigree 2016.ppt
This document discusses sex-linked inheritance of traits in organisms. It explains that sex-linked traits are carried on the X or Y chromosome. Since females have two X chromosomes and males have one X and one Y, this means that some genetic disorders will predominantly affect males. The document provides examples of several genetic disorders that are sex-linked, such as color blindness, hemophilia, Duchenne muscular dystrophy, and albinism. It also explains how to determine the probability of offspring inheriting sex-linked traits using a Punnett square.
Heritable Traits in Man, Pedigree Analysis and Pedigree Application
This document discusses several heritable human traits and their patterns of inheritance:
- Handedness is inherited as a dominant trait with right-handedness dominant over left-handedness. Some traits like naturally curly hair and widow's peak hairline also follow this pattern.
- Allergies have a genetic component and children of parents with allergies have an increased chance of also having allergies.
- Colorblindness is sex-linked and inherited through a recessive X-chromosome gene, so it is more common in men.
- Pedigree charts are used to analyze inheritance patterns and determine if a trait is dominant, recessive, sex-linked, and the probability of it
Pedigree_analysis.pdf
This document provides information about pedigree analysis including:
- A pedigree is a pictorial representation of a family history used to study inherited diseases and traits.
- Common symbols are used to represent individuals and their status in a pedigree. Basic patterns of inheritance include autosomal recessive, autosomal dominant, X-linked recessive, and X-linked dominant.
- Autosomal traits are caused by genes on chromosomes 1-22, while sex-linked traits are caused by genes on the X or Y chromosome. Recessive traits require two copies of the allele while dominant traits only require one.
- Examples of different inheritance patterns and diseases are described such as cystic fibrosis being autosomal recessive and
PPT-GENETICS.pptx
This document provides information about sex-linked inheritance. It begins by defining sex-linked inheritance as traits influenced by genes on the sex chromosomes, particularly the X chromosome. Examples of sex-linked traits and disorders like hemophilia and color blindness are given. The document then explains how sex is determined by the presence of X and Y chromosomes and how this relates to passing sex-linked genes from parents to children. Patterns of sex-linked inheritance for both males and females are described.
Sims genetics
The document discusses human genetics and genetic disorders. It provides information on normal human karyotypes, sex determination, and inheritance patterns of genetic diseases. Key points include that humans normally have 22 pairs of autosomes and 1 pair of sex chromosomes, with females being 46 XX and males 46 XY. Genetic diseases can be hereditary, familial, or congenital. The Lyon hypothesis states that in females, one X chromosome is randomly inactivated in each cell. Examples of genetic disorders discussed include Down syndrome, Turner syndrome, Klinefelter syndrome, and various lysosomal storage diseases.
Pedigree presentation
Based on the information provided, here are my responses:
- The inheritance pattern shown in this pedigree is autosomal recessive. Cystic fibrosis is caused by mutations in the CFTR gene and follows an autosomal recessive pattern of inheritance.
- III-1 is likely a carrier (heterozygous for a CF mutation). His wife is unlikely a carrier.
- III-2 and II-3 are also likely carriers since they each had an affected child but are unaffected themselves.
- The odds that IV-5 would have an affected son is 25% since each parent is a carrier. There is a 50% chance they would pass on a CF mutation to each child and a 25% chance both would
Modes of inheritance
Lecture given by Leon MUTESA, MD,PhD , a genetician teaching at UR( UNIVERSITY OF RWANDA, HUYE CAMPUS,SCHOOL OF MEDICINE AND PHARMACY, DEPARTMENT OF GENERAL MEDICINE AND SURGERY).
Sex chromosome disorders
Chromosomal abnormalities can cause genetic disorders by changing the number or structure of chromosomes. Some abnormalities are caused by changes in the number of sex chromosomes, such as Turner syndrome (XO) in females which causes short stature and infertility. Klinefelter syndrome (XXY) in males results in breast development and infertility. Fragile X syndrome, the most common inherited cause of intellectual disability, is caused by a trinucleotide repeat expansion in the FMR1 gene on the X chromosome.
Chromosomal disorder
This document discusses various chromosomal disorders including aneuploidy, autosomal anomalies, sex chromosomal anomalies, Down's syndrome, Turner's syndrome, and Klinefelter's syndrome. It provides details on the genetic causes of each disorder and their associated clinical manifestations. Detection methods like amniocentesis, maternal blood screening, and ultrasounds are also summarized.
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2 3 4 5 Mode of inheritance- Mode of inheritance-Inheritance of an X-l.pdf
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Heritable Traits in Man, Pedigree Analysis and Pedigree Application
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The document outlines a staffing plan for Ilikai Bar & Grill. It discusses forecasting labor supply and demand, setting goals and strategies to address shortages or surpluses. The plan identifies that Ilikai Bar & Grill will need 61 employees across various roles in customer service, operations, marketing, and management. It then discusses strategies for recruiting the right applicants through both internal and external sources while complying with equal employment laws to avoid discrimination. The conclusion restates that an effective staffing plan is important for organizational success and that Ilikai Bar & Grill will follow all relevant laws and regulations.Mgt431 charfauros week1. Copyright 2013 Edward F. T. Charfauros. Reference, w...
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Edward F. T. Charfauros, inspiring author, assists fellow students with their presentation for a successful grade. He also blogs upon his own inspiring blog, where you'll discover life changing stuff. Sign up for his blog by sending him an email~
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Edward F. T. Charfauros, inspiring author, assists fellow students with their presentation for a successful grade. He also blogs upon his own inspiring blog, where you'll discover life changing stuff. Sign up for his blog by sending him an email~
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Edward F. T. Charfauros, inspiring author, assists fellow students with their presentation for a successful grade. He also blogs upon his own inspiring blog, where you'll discover life changing stuff. Sign up for his blog by sending him an email~
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Edward F. T. Charfauros, inspiring author, assists fellow students with their presentation for a successful grade. He also blogs upon his own inspiring blog, where you'll discover life changing stuff. Sign up for his blog by sending him an email~
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Edward F. T. Charfauros, inspiring author, assists fellow students with their presentation for a successful grade. He also blogs upon his own inspiring blog, where you'll discover life changing stuff. Sign up for his blog by sending him an email~
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Edward F. T. Charfauros, inspiring author, assists fellow students with their presentation for a successful grade. He also blogs upon his own inspiring blog, where you'll discover life changing stuff. Sign up for his blog by sending him an email~
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The document contains exercises from a textbook on accounting principles. It includes a partial worksheet, income statement, balance sheet, and journal entries for closing entries for Goode Company for the month of April 2008. The summary provides high-level financial information including revenues of $15,590, expenses of $12,328, net income of $3,262, total assets of $42,001, and stockholders' equity of $30,572.Client proposal temp copy. Copyright 2013 Edward F. T. Charfauros. Reference,...
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Edward F. T. Charfauros, inspiring author, assists fellow students with their presentation for a successful grade. He also blogs upon his own inspiring blog, where you'll discover life changing stuff. Sign up for his blog by sending him an email~
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Edward Charfauros is seeking new leadership challenges and is submitting his resume for consideration. With 19 years of experience contributing to growth and success across multiple organizations, he has a track record of guiding operations and projects to higher performance levels through cost reduction, project management, revenue growth, and strategic planning. His strengths include needs analysis, creating unique solutions, and streamlining inefficient processes to boost productivity and profits. He believes his proven leadership skills, managerial talents, commitment to ethics, and flexibility would allow him to significantly contribute to the team.Team c; w5; oral presbestprac; 08.16.11 Copyright 2013 Edward F. T. Charfauro...
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Edward F. T. Charfauros, inspiring author, assists fellow students with their presentation for a successful grade. He also blogs upon his own inspiring blog, where you'll discover life changing stuff. Sign up for his blog by sending him an email~
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The document provides an overview of Riordan Manufacturing's strategic plan. It discusses conducting environmental scans and formulating, implementing, evaluating, and controlling strategies. The strategic plan focuses on improving innovation and sustainability through competitive advantages like vertical integration and differentiation. It emphasizes ethical and social responsibilities such as donating products, using recycled materials, and improving international working conditions. Strategies include vertical growth, differentiation, and low-cost leadership. The conclusion justifies the team's strategic plan choices using research.Team c; w5; tecck industries; 07.12.11 Copyright 2013 Edward F. T. Charfauros...
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This document provides an overview of TECCK Industries' ethical policies and procedures. It outlines their mission to provide clean solar energy to meet global energy needs. It discusses issues organizations face and their legal and ethical obligations. The document details TECCK's code of ethics, training programs, monitoring, enforcement policies and references to support an ethical approach to business, including when conducting business internationally.Sample 2 writing - charfauros, e. Copyright 2013 Edward F. T. Charfauros. R...
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This is one of many of my University of Phoenix writing essay papers for achieving my Bachelor Science of Business Administraion (concentraion in Management) degree~
Edward F. T. Charfauros, inspiring author, assists fellow students with their presentation for a successful grade. He also blogs upon his own inspiring blog, where you'll discover life changing stuff. Sign up for his blog by sending him an email~
Copyright 2013 Edward F. T. Charfauros. Reference, www.YourBlogorResume.net.Sample 1 writing - charfauros, e. Copyright 2013 Edward F. T. Charfauros. R...
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This is one of many of my University of Phoenix writing essay papers for achieving my Bachelor Science of Business Administraion (concentraion in Management) degree~
Edward F. T. Charfauros, inspiring author, assists fellow students with their presentation for a successful grade. He also blogs upon his own inspiring blog, where you'll discover life changing stuff. Sign up for his blog by sending him an email~
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Edward F. T. Charfauros, inspiring author, assists fellow students with their presentation for a successful grade. He also blogs upon his own inspiring blog, where you'll discover life changing stuff. Sign up for his blog by sending him an email~
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Sample 2 writing - charfauros, e. Copyright 2013 Edward F. T. Charfauros. R...
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Sample 1 writing - charfauros, e. Copyright 2013 Edward F. T. Charfauros. R...
Mgt498 wk5 ltc_ppt Copyright 2013 Edward F. T. Charfauros. Reference, www.You...
Mgt498 wk5 ltc_ppt Copyright 2013 Edward F. T. Charfauros. Reference, www.You...
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How to Control Your Asthma Tips by gokuldas hospital.
Respiratory issues like asthma are the most sensitive issue that is affecting millions worldwide. It hampers the daily activities leaving the body tired and breathless.
The key to a good grip on asthma is proper knowledge and management strategies. Understanding the patient-specific symptoms and carving out an effective treatment likewise is the best way to keep asthma under control.
Giloy in Ayurveda - Classical Categorization and Synonyms
Giloy, also known as Guduchi or Amrita in classical Ayurvedic texts, is a revered herb renowned for its myriad health benefits. It is categorized as a Rasayana, meaning it has rejuvenating properties that enhance vitality and longevity. Giloy is celebrated for its ability to boost the immune system, detoxify the body, and promote overall wellness. Its anti-inflammatory, antipyretic, and antioxidant properties make it a staple in managing conditions like fever, diabetes, and stress. The versatility and efficacy of Giloy in supporting health naturally highlight its importance in Ayurveda. At Planet Ayurveda, we provide a comprehensive range of health services and 100% herbal supplements that harness the power of natural ingredients like Giloy. Our products are globally available and affordable, ensuring that everyone can benefit from the ancient wisdom of Ayurveda. If you or your loved ones are dealing with health issues, contact Planet Ayurveda at 01725214040 to book an online video consultation with our professional doctors. Let us help you achieve optimal health and wellness naturally.
Pharmacology of 5-hydroxytryptamine and Antagonist
5-hydroxytryptamine or 5-HT or Serotonin is a neurotransmitter that serves a range of roles in the human body. It is sometimes referred to as the happy chemical since it promotes overall well-being and happiness.
It is mostly found in the brain, intestines, and blood platelets.
5-HT is utilised to transport messages between nerve cells, is known to be involved in smooth muscle contraction, and adds to overall well-being and pleasure, among other benefits. 5-HT regulates the body's sleep-wake cycles and internal clock by acting as a precursor to melatonin.
It is hypothesised to regulate hunger, emotions, motor, cognitive, and autonomic processes.
Osvaldo Bernardo Muchanga-GASTROINTESTINAL INFECTIONS AND GASTRITIS-2024.pdf
Osvaldo Bernardo Muchanga-GASTROINTESTINAL INFECTIONS AND GASTRITIS-2024.pdfOsvaldo Bernardo Muchanga
GASTROINTESTINAL INFECTIONS AND GASTRITIS
Osvaldo Bernardo Muchanga
Gastrointestinal Infections
GASTROINTESTINAL INFECTIONS result from the ingestion of pathogens that cause infections at the level of this tract, generally being transmitted by food, water and hands contaminated by microorganisms such as E. coli, Salmonella, Shigella, Vibrio cholerae, Campylobacter, Staphylococcus, Rotavirus among others that are generally contained in feces, thus configuring a FECAL-ORAL type of transmission.
Among the factors that lead to the occurrence of gastrointestinal infections are the hygienic and sanitary deficiencies that characterize our markets and other places where raw or cooked food is sold, poor environmental sanitation in communities, deficiencies in water treatment (or in the process of its plumbing), risky hygienic-sanitary habits (not washing hands after major and/or minor needs), among others.
These are generally consequences (signs and symptoms) resulting from gastrointestinal infections: diarrhea, vomiting, fever and malaise, among others.
The treatment consists of replacing lost liquids and electrolytes (drinking drinking water and other recommended liquids, including consumption of juicy fruits such as papayas, apples, pears, among others that contain water in their composition).
To prevent this, it is necessary to promote health education, improve the hygienic-sanitary conditions of markets and communities in general as a way of promoting, preserving and prolonging PUBLIC HEALTH.
Gastritis and Gastric Health
Gastric Health is one of the most relevant concerns in human health, with gastrointestinal infections being among the main illnesses that affect humans.
Among gastric problems, we have GASTRITIS AND GASTRIC ULCERS as the main public health problems. Gastritis and gastric ulcers normally result from inflammation and corrosion of the walls of the stomach (gastric mucosa) and are generally associated (caused) by the bacterium Helicobacter pylor, which, according to the literature, this bacterium settles on these walls (of the stomach) and starts to release urease that ends up altering the normal pH of the stomach (acid), which leads to inflammation and corrosion of the mucous membranes and consequent gastritis or ulcers, respectively.
In addition to bacterial infections, gastritis and gastric ulcers are associated with several factors, with emphasis on prolonged fasting, chemical substances including drugs, alcohol, foods with strong seasonings including chilli, which ends up causing inflammation of the stomach walls and/or corrosion. of the same, resulting in the appearance of wounds and consequent gastritis or ulcers, respectively.
Among patients with gastritis and/or ulcers, one of the dilemmas is associated with the foods to consume in order to minimize the sensation of pain and discomfort. PGx Analysis in VarSeq: A User’s Perspective
Since our release of the PGx capabilities in VarSeq, we’ve had a few months to gather some insights from various use cases. Some users approach PGx workflows by means of array genotyping or what seems to be a growing trend of adding the star allele calling to the existing NGS pipeline for whole genome data. Luckily, both approaches are supported with the VarSeq software platform. The genotyping method being used will also dictate what the scope of the tertiary analysis will be. For example, are your PGx reports a standalone pipeline or would your lab’s goal be to handle a dual-purpose workflow and report on PGx + Diagnostic findings.
The purpose of this webcast is to:
Discuss and demonstrate the approaches with array and NGS genotyping methods for star allele calling to prep for downstream analysis.
Following genotyping, explore alternative tertiary workflow concepts in VarSeq to handle PGx reporting.
Moreover, we will include insights users will need to consider when validating their PGx workflow for all possible star alleles and options you have for automating your PGx analysis for large number of samples. Please join us for a session dedicated to the application of star allele genotyping and subsequent PGx workflows in our VarSeq software.
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Time-lapse embryo monitoring is an advanced imaging technique used in IVF to continuously observe embryo development. It captures high-resolution images at regular intervals, allowing embryologists to select the most viable embryos for transfer based on detailed growth patterns. This technology enhances embryo selection, potentially increasing pregnancy success rates.
Skin Diseases That Happen During Summer.
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What is Obesity? How to overcome Obesity?
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The Nervous and Chemical Regulation of Respiration
These lecture slides, by Dr Sidra Arshad, offer a simplified look into the mechanisms involved in the regulation of respiration:
Learning objectives:
1. Describe the organisation of respiratory center
2. Describe the nervous control of inspiration and respiratory rhythm
3. Describe the functions of the dorsal and respiratory groups of neurons
4. Describe the influences of the Pneumotaxic and Apneustic centers
5. Explain the role of Hering-Breur inflation reflex in regulation of inspiration
6. Explain the role of central chemoreceptors in regulation of respiration
7. Explain the role of peripheral chemoreceptors in regulation of respiration
8. Explain the regulation of respiration during exercise
9. Integrate the respiratory regulatory mechanisms
10. Describe the Cheyne-Stokes breathing
Study Resources:
1. Chapter 42, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 36, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 13, Human Physiology by Lauralee Sherwood, 9th edition
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The skin is the largest organ and its health plays a vital role among the other sense organs. The skin concerns like acne breakout, psoriasis, or anything similar along the lines, finding a qualified and experienced dermatologist becomes paramount.
Patellar Instability: Diagnosis Management
Pictorial and detailed description of patellar instability with sign and symptoms and how to diagnose , what investigations you should go with and how to approach with treatment options . I have presented this slide in my 2nd year junior residency in orthopedics at LLRM medical college Meerut and got good reviews for it
After getting it read you will definitely understand the topic.
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Artificial Intelligence Symposium (THAIS)
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Breast cancer: Post menopausal endocrine therapy
Breast cancer in postmenopausal women with hormone receptor-positive (HR+) status is a common and complex condition that necessitates a multifaceted approach to management. HR+ breast cancer means that the cancer cells grow in response to hormones such as estrogen and progesterone. This subtype is prevalent among postmenopausal women and typically exhibits a more indolent course compared to other forms of breast cancer, which allows for a variety of treatment options.
Diagnosis and Staging
The diagnosis of HR+ breast cancer begins with clinical evaluation, imaging, and biopsy. Imaging modalities such as mammography, ultrasound, and MRI help in assessing the extent of the disease. Histopathological examination and immunohistochemical staining of the biopsy sample confirm the diagnosis and hormone receptor status by identifying the presence of estrogen receptors (ER) and progesterone receptors (PR) on the tumor cells.
Staging involves determining the size of the tumor (T), the involvement of regional lymph nodes (N), and the presence of distant metastasis (M). The American Joint Committee on Cancer (AJCC) staging system is commonly used. Accurate staging is critical as it guides treatment decisions.
Treatment Options
Endocrine Therapy
Endocrine therapy is the cornerstone of treatment for HR+ breast cancer in postmenopausal women. The primary goal is to reduce the levels of estrogen or block its effects on cancer cells. Commonly used agents include:
Selective Estrogen Receptor Modulators (SERMs): Tamoxifen is a SERM that binds to estrogen receptors, blocking estrogen from stimulating breast cancer cells. It is effective but may have side effects such as increased risk of endometrial cancer and thromboembolic events.
Aromatase Inhibitors (AIs): These drugs, including anastrozole, letrozole, and exemestane, lower estrogen levels by inhibiting the aromatase enzyme, which converts androgens to estrogen in peripheral tissues. AIs are generally preferred in postmenopausal women due to their efficacy and safety profile compared to tamoxifen.
Selective Estrogen Receptor Downregulators (SERDs): Fulvestrant is a SERD that degrades estrogen receptors and is used in cases where resistance to other endocrine therapies develops.
Combination Therapies
Combining endocrine therapy with other treatments enhances efficacy. Examples include:
Endocrine Therapy with CDK4/6 Inhibitors: Palbociclib, ribociclib, and abemaciclib are CDK4/6 inhibitors that, when combined with endocrine therapy, significantly improve progression-free survival in advanced HR+ breast cancer.
Endocrine Therapy with mTOR Inhibitors: Everolimus, an mTOR inhibitor, can be added to endocrine therapy for patients who have developed resistance to aromatase inhibitors.
Chemotherapy
Chemotherapy is generally reserved for patients with high-risk features, such as large tumor size, high-grade histology, or extensive lymph node involvement. Regimens often include anthracyclines and taxanes.
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SENSORY NEEDS B.SC. NURSING SEMESTER II.
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Bio101 charfauros week2 Copyright 2013 Edward F. T. Charfauros
- 1. Felix Charfauros Edward Charfauros Ian Alu Charfauros Lourdes Charfauros Vernon Charfauros Andrew Charfauros Presentation by Edward Charfauros
- 2. • Physical Attributes • Genetic Disorders • Sex-linked Traits • Reference • Question and Answer Session
- 3. • Hair Color • Eye Color • No Wisdom Teeth • Laugh • Hairless Armpits • Dominant Hand • Feet
- 4. • NONE
- 5. • Men normally have an X and Y sex chromosome combination. • Women have two X sex chromosomes. • There is an estimation 1,098 human X-linked genes. • Many abnormal conditions stem from non-sex determining X-linked genes. • Examples: Congenital night blindness, Duchenne muscular dystrophy, fragile-X syndrome, G6PD deficiency, hemophilia, some high blood pressure, red-green color blindness, and the majority of common human genetic disorders.
- 6. • If a woman carries an X-linked recessive allele for a disorder and her mate does not, a 50% chance exist with their sons inheriting the disorder. No daughter will carry it, as half of them will likely be carriers. • If a man possesses an X-linked recessive disorder and his mate does not, their daughters become carriers. No son will inherit the harmful allele, as only females receive X chromosomes from their fathers.
- 7. • O'Neil, D. (2012). Sex linked genes. Retrieved from http://anthro.palomar.edu/biobasis/bio_4.ht m