Guided Case Study
Muscle Malady
1) What symptoms is Rahul experiencing?
2) Describe 2 purposes of the blood test that was ordered.
3) What is the function of dystrophin and how is it altered by DMD?
4) Knowing the inheritance pattern of DMD, what can you predict about Rahul's family histors?
5) Assuming that Rahul lives until aduithood, he could have children. Show a Punnett Square illustrating the likelihood of Rahul passing this mutation on if he marries a woman with two normal X chromosomes.
6) What treatments are suggested for DMD?
Rahul is experiencing difficulty walking and an abnormal gait, which are symptoms of Duchenne Muscular Dystrophy (DMD).
2. The blood test that was ordered specifically tests for the creatine-kinase (CK) enzyme linked to degeneration of muscles and provides a genetic analysis through DNA testing of the blood cells. The purpose of the CK test is to measure the level of CK enzyme in the blood, which is often elevated in individuals with DMD, and the purpose of the genetic analysis is to identify the presence of a mutation in the dystrophin gene, which is the genetic cause of DMD.
3. Dystrophin is a protein found beneath the sarcolemma of the muscle fibers. It is responsible for distributing the force from a muscle contraction to the cell membrane and helps to protect muscle fibers from damage during contraction. In DMD, there is a mutation in the dystrophin gene, which prevents the production of dystrophin, allowing the contraction force to damage the fibers, causing permanent tears in the fibers, and leading to muscle degeneration and weakness.
4. Because DMD is an X-linked disorder, it is more common in males, and it is inherited in a pattern of sex-linked inheritance. This results in the disease being more common in males, although females can unknowingly pass the mutated gene to their children. Knowing this, one can predict that Rahul's biological parents are likely to be unaffected carriers of the mutation, and it is highly likely that his biological siblings have the same condition.
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Assuming that Rahul lives until adulthood, he could
What is Duchenne Muscular Dystrophy?Duchenne Muscular Dystrophy (DMD) is a rare genetic disorder that affects muscle function and strength. It is caused by a mutation in the dystrophin gene, which is located on the X chromosome. This gene provides instructions for making a protein called dystrophin, which is essential for the proper functioning of muscles.
Without dystrophin, muscle fibers are unable to withstand the force of contraction, leading to damage and degeneration. This results in progressive muscle weakness, starting in the legs and pelvis.
Therefore, in the above case, none of his children will have DMD, but they will all be carriers of the mutation, meaning they have the potential to pass it on to their own offspring. It's important to note that, in reality, the genetic transmission of a disease like DMD is not always as simple as a Punnett square.
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Rahul Carter is a 2 year old who was adopted from an Indian orphanage just over a year ago. His adoptive parents have brought him in for his annual pediatric exam. Rahul's pediatrician has been monitoring his physical progress carefully because he was a late walker and has always been a bit clumsy. At this appointment, Rahul's pediatrician notices that he is continuing to have difficulty walking and has an abnormal gait. Suspecting an undiagnosed muscular condition, the pediatrician orders a blood test for Rahul. This blood test specifically tests for the creatine- kinase (CK) enzyme linked to degeneration of muscles and provides a genetic analysis through DNA testing of the blood cells. Upon receiving results of elevated CK levels and a mutated dystrophin gene. Rahul is diagnosed with Duchenne Muscular Dystrophy (DMD).
DMD is a progressive disease of the muscular system. It is most often diagnosed between the ages of 3 and 5 and is defined by weakened muscles of the legs, torso, and hips. As the muscles of the heart and diaphragm are eventually affected, it becomes lethal. Dystrophin is a protein found beneath the sarcolemma of the muscle fibers. It is responsible for distributing the force from a muscle contraction to the cell membrane. The absence of this protein permits the contraction force to damage the fibers themselves, causing permanent tears in the fibers. As the child ages, these tears are replaced by scar tissue, reducing the effectiveness of skeletal muscles.
DMD is caused by a mutation within the X chromosome that prevents the production of dystrophin. Because it is located on the X chromosome, it follows a pattem of sex- linked inheritance. This results in the disease being more common in males, although females can unknowingly pass the mutated gene to their children.
Although there is currently no cure for DMD, treatment includes physical therapy and light exercise to slow muscle damage. Orthopedic braces and walkers can be used, but individuals with DMD are often confined to wheelchairs by age 12. Corticosteroids are commonly prescribed to reduce muscle inflammation, slowing skeletal muscle loss. The life expectancy of an individual with DMD is around age 30, but scientific advances are extending life expectancies with some individuals living into their 50s.
What does parasitism mean?
Answer: It basically means when a parasite is living inside of another organism that causes harm to the host.
Explanation:
I hope this helps:)))
Answer: There is multiple definitions based of the dictionary but it generally mean "infestation by a parasite" or " the practice of living as a parasite in or on another organism".
Explanation:
Like going into or onto something, and taking over; Like how a parasite makes its way into already owned home, and taking over the host.
Hope this helps!
The chromosome of a bacterium
Image result for The chromosome of a bacterium
The bacterial chromosome is one long, single molecule of double stranded, helical, supercoiled DNA. In most bacteria, the two ends of the double-stranded DNA covalently bond together to form both a physical and genetic circle. ... coli, a bacterium that is 2-3 µm in length, has a chromosome approximately 1400 µm long.Answer:
Explanation:
When you test cross the offspring of ccWW X CCww you get the following results
Answer:
CcWw
Explanation:
Explanation is in the image
Three processes that occur in cells are described in the box.
These processes are all examples of -
A- Crossing over
B- The migration of genetic material
C- Selective permeability
D- Cellular energy use
LOOK AT PICTURE
Answer:Selective Permeability
Which term best describes the structure of a dragonfly with no bones and a bat with
bones?
O a. Homologous structures
Ob. Analogous structures
O c. Fossil records
O d. Vestigial structures
What happens to enzymes under high heat and how does this prevent them
from functioning properly?
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a plant without sent that makes a large amount of pollen is pollinated by
Answer: Wind
Explanation: Wind pollinated flowers are dry, light, have small or no petals, do not produce scent or nectar and pollen grains are produced in abundance.
They have these qualities, so that they can be easily flown away, and if any of them are wasted it won't affect as they produce pollen grains to supply their species.
Credit to: Frencesca, on brainly.
https://brainly.in/question/24059940
Pleeeeeasssssee heeelp asap The image is attached
The box lists some characteristics of a plant that has adapted to conditions in Its environment. Grows in clusters and low to the ground Able to grow under a layer of snow Carries out photosynthesis at temperatures below freezing Flowers very quickly and briefly during Summer Produces small, moisture-retaining leaves To which type of environment is the plant best adapted? A. Desert Grassland Rainforest D. (ID Tundra
No links i will report
Answer:tundra
Explanation:I’m doing the test rn lol
Investiga como se reproducen las células madres
Answer:
Las células madre son células que se reproducen constantemente y tienen la capacidad de transformarse en cualquier otro tipo de célula del cuerpo de un organismo. Una célula a partir de la cual pueden crecer todos los tejidos del cuerpo, o una gran parte de ellos, es obviamente una célula extremadamente útil.
Si las células madre se guían en la formación de tejidos sanos y funcionales, entonces, potencialmente, la terapia celular podría aplicarse para muchas enfermedades. De hecho, si las células provienen del propio paciente, en teoría no habrá riesgo de su rechazo (como lamentablemente ocurre con los trasplantes).
Las células madre tienen la capacidad de reproducirse por sí mismas a través del proceso de mitosis celular, para crear copias idénticas (clones) de sí mismas..
what sensors in the past points out the similarity between parthenogenesis and sexual reproduction
The similarity between parthenogenesis and sexual reproduction is “Parthenogenesis involves the formation of a zygote”
How is parthenogenesis similar to sexual reproduction?This method is alike to the fusion of an egg and sperm in sexual reproduction since it shapes a diploid nucleus from the fusion of two dissimilar cells. The resulting offspring is a homozygote and gets about half of its mother's genetic disparity. This type of parthenogenesis could make either a female or a male.
Komodo dragons are a sample of a species that can produce offspring both through sexual reproduction and parthenogenesis.
So we can conclude that Parthenogenesis in humans never make viable embryos,
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Question 18 of 25
When describing image formation for flat, shiny surfaces, what is an
important rule to remember about light rays?
Answer:
Some important rules of light are:
the incident ray,normal ray and the reflected ray lie in the same point.angle of incidence is equal to angle of reflection..The Angle When It Leaves Is Larger Than The Angle When It Hits. The Angle Is Smaller In The Medium That Has The Higher Index Of Refraction.
hope it is helpful to you
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Class 10 - NCERT Book - only references from this book, answers from the internet will be reported. No spam!!!
Answer:
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The force that blood exerts against the wall of a vessel is called blood pressure.
Class 10 - NCERT Book - definition.
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Answer:
The force that blood exerts against the wall of a vessel is called blood pressure.
Explanation:
What is the most accepted evidence of evolution?
Answer:
fossil and DNA
Explanation:
Fossils are the most direct way that we can see the past history of life on Earth. Traditional study of evolution using fossils consists mostly of comparing the skeletons of fossil organisms to the skeletons of extant organisms.
DNA and the genetic code reflect the shared ancestry of life. DNA comparisons can show how related species are. Biogeography. The global distribution of organisms and the unique features of island species reflect evolution and geological change.
Answer:
fossils and maybe DNA?
Explanation:
On which date is the high temperature and rainfall least likely to occur in this
desert?
Answer:
i think January 5th
Explanation:
approximately 90% of absorbed alcohol gets converted by processes in the ____
Answer:
The liver.
Explanation:
The liver converts the majority of the alcohol into a substance called acetaldehyde, which is then further broken down into acetic acid and other byproducts. This process of metabolizing alcohol is what helps to reduce the concentration of alcohol in the blood and eliminate it from the body
The nurse is aware that any description of health would
include the concept that:
A) health is the absence of illness, and illness is the presence
of chronic disease.
B) illness is a biological malfunction, and health is biological
soundness.
C) lifestyle factors are the major determinants of health or
illness.
D) culture, education, and socioeconomic status influence
one's definition of health or illness.
Answer: C
Explanation:
I believe that this is the answer because a nurse should only care about the patents health, socioeconomic or status should not be a deciding factor.
Which of the following is NOT a way in which humans increase biodiversity?
Introduction of invasive species
Building artificial reefs
Removal of pollutants
Restoration of local communities
Answer:
restoration of local communities
Which of the following pairs represent homologous structures?
Complete question:
Which of the following pairs represent homologous structures?
Wings of grasshopper and forelimbs of flying squirrel Tentacles of Hydra and arms of starfish Forelimbs of a bat and forelegs of a horse Wings of a bird and wings of a mothAnswer:
3. Forelimbs of a bat and forelegs of a horse
Explanation:
Homologous characters are structures with the same basic elements. Their position in the body and the relations with adjacent structures are also the same in different organisms, and they even share the same embryological development.
These structures might show variations between the organisms exhibiting them. Variations might be related to their function and to the environment in which the organism lives. The function they accomplish is not necessarily the same in all the organisms involved.
These homologous characters are present in organisms related that share a common ancestor.
For example, whales, humans, and cats all have the same bones in the same order, but they matured differently in later embryological development.
Among the options, the only possible pair that represents homologous characters is option 3. Forelimbs of a bat and forelegs of a horse. Both structures are the anterior extremities of the animals and share the same bones, even though they might differ in the development degree. Forelimbs and forelegs have the same position and relation with other structures in the body, and embryologically, they are the same.
how does gravity effect the moon phases
Explanation:
The moon's gravitational force pulls on water in the oceans and stretches the water out to form tidal bulges in the ocean on the sides of the planet that are in line with the moon. The moon pulls water on the side nearest it, which causes a bulge toward the moon. ... The moon also stabilizes the Earth's rotation.
What is a plantlet?
A small plant
A small leaf-like structure that buds off the edge of leaves, used in asexual reproduction
A small leaf-like structure that buds off the edge of leaves, used in sexual reproduction
A small growth that produces more foliage on a plant
What is a horizontal above-ground stem that produces new daughter plants asexually?
Aboveground stem
Aboveground root
Stolon
Bud
What is apomixis?
The production of roots with developing plant embryo without need for fertilization
The production of roots with developing plant embryo with need for fertilization
The production of seeds with developing plant embryo without need for fertilization
The production of roots without developing plant embryo with need for fertilization
What is the reproduction structure on the flower that is the male part?
Sepals
Petals
Stamens
Pistils
What is the reproduction structure on the flower that is the female part?
Sepals
Petals
Stamens
Pistils
What occurs when pollen for a plant fertilizes its own ovule on the same plant?
Out-crossing
Self fertilization
Other fertilization
In-crossing
What occurs when a plant mates with individuals other than itself?
Out-crossing
Self fertilization
Other fertilization
Self pollination
What happens when two separate structures are joined so that by tissue regeneration they form a union and grow as one plant?
Grafting
Rootstock
Scion
Propagate
Answer:
Its what the person above said ^^
Why is the Pacific Ocean important to marine life?
Which Chemicals are major contributors to the Ozone layer destruction? Select TWO answer choices.
Phosphorus
Nitrogen
Bromine
Chlorine
Carbon-dioxide
Methane
Answer:
The damage to ozone layer is done by halogens such as Chlorine and Bromine.
Which of these groups contains a single -celled organisms?
Answer:
Escherichia coli.
Diatoms.
Protozoa.
Protista.
Streptococcus.
Pneumococci.
Dinoflagellates.
Explanation:
Guy please help ill give brainliest
. List two events that can
change human population
trend
Plz help me well mark brainliest if correct!!..
Answer:
four layers
Most rainforests are structured in four layers: emergent, canopy, understory, and forest floor.
Explanation:
How are sex cells different from other human cells?
Sex cells have half as many chromosomes
Sex cells have double chromosomes
Sex cells are larger.
Sex cells have no chromosomes.
Answer:
They have diffrent oxeans, which makes color trasnfers, differnt
Explanation:
Answer:
Students will explore the structure and function of cells - the building blocks of life. Using a simple factory analogy, they will discover how the major parts of a cell work together to make a product. Each student will build a 3-D cell model to help visualize the abstract world of the microscopic cell.
Students will:
discover that in nature “form fits function”;
understand that there is order to a living thing, and that cells give rise to tissues, tissues to organs, and organs to organ systems;
identify organelles and other cellular structures by their scientific names;
learn how organelles and other structures work together in a cell; and
build a macroscopic model of an animal cell.Examine the five kingdoms of life through a microscope! Slides of animal, plant, fungi, protist, and bacteria cells are magnified up to 400x in a compound microscope as part of an exploration of biodiversity and classification.
Students will:
view cells from all five kingdoms magnified through a compound microscope;
record microscope observations;
compare and contrast cell types; and
learn how to prepare a wet mount slide with cheek cells and use a compound microscope.Understanding the structure of DNA helps to explain its function. In this lab, students are introduced to the composition of DNA building blocks called nucleotides. They will discover how the subunits of the nucleotides - nitrogenous bases, phosphate groups and deoxyribose sugars - fit together to form the double helix. The lab concludes with the construction of 3-D models that show the famous structure.
Students will:
discuss the role of DNA in living things;
explore the structure and function of the DNA molecule;
learn about the base pairs of DNA and the importance of sequence; and
construct a model of DNA.Gregor Mendel is known as the “Father of Genetics.” His proposed principles of heredity—based on his own observations of heredity in garden plants—formed the basis of our understanding of classical genetics. In this lab, kernel color in corn is used to illustrate some of Mendel’s laws of inheritance.
Students will:
collect data from corn crosses to show patterns of heredity;
use Punnett squares to predict possible outcomes from genetic crosses; and
learn how Mendel’s laws can be applied today.
Explanation:
Which of the following terms best describes a lifestyle that promotes
gradual usage and replenishment of resources?
A Unsustainability
B Footprints
C Ecology
D Sustainability
D: Sustainability hope it helps
The best term that describes a lifestyle that promotes gradual usage and replenishment of resources is D : Sustainability
Sustainability in the general term is simply the ability to achieve a level of stability of resources over a very long period of time without depletion of natural resources. and to achieve this one has to ensure a consistent/gradual replenishment of used resources. while Unsustainability is the opposite of sustainability.
Other options do not comprehensively promote the gradual usage and replenishment of resources
Hence the term that best describes a lifestyle that promotes gradual usage and replenishment is Sustainability.
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Please select the word from the list that best fits the definition
help relieve the symptoms of a viral infection
genetic material
active
inactive
vaccines
over-the-counter medications
ability to multiply
Answer:
OTC medication
Explanation:
Although vaccines make sence vaccines help prevent a viral infection
otc medication is used to fight the symptoms
consider the flu shot you might get the flu shot and still get sick so you have to bur flu medicine,
which organisms do primary consumers mainly eat? Producers or decomposers
Answer: producer
Explanation:Primary consumer's are herbivores