Association Syndromes and Sequences: What is the genetic mutation in Stickler syndrome?

Answers

Answer 1

Stickler syndrome is caused by genetic mutations in several genes, including COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2. These genes are responsible for producing proteins that help form the structure and strength of connective tissues throughout the body.


The most common form of Stickler syndrome is caused by mutations in the COL2A1 gene, which encodes the type II collagen protein. This protein is a major component of cartilage and other connective tissues in the body, including the vitreous humor of the eye. Mutations in this gene disrupt the normal production and assembly of type II collagen, leading to weakened connective tissue and a range of symptoms.

In summary, the genetic mutation in Stickler syndrome is a disruption in the production and assembly of type II collagen, which is caused by mutations in several different genes, including COL2A1, COL11A1, COL11A2, and COL9A1. The symptoms of Stickler syndrome can vary widely, but typically involve a range of connective tissue problems, facial abnormalities, hearing loss, and vision problems.

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Related Questions

Give an example of an ethical dilemma in healthcare? What would you do?

Answers

Answer:

An example of an ethical dilemma is telling the truth to a patient vs. being deceptive.

How you would deal with ethical dilemma:

1. Identify the ethical issues.

2. Identify alternative courses of action.

3. Using ethical reasoning to decide on a course of action.

Explanation:

Another example of an ethical dilemma is telling the truth to a patient vs. being deceptive, Altman said. “Sometimes families request that patients not be told about their medical condition or diagnosis,” Altman added. “The nurse must consider the patient's right to know.

The code OXY in the bottom white quadrant of a label conforming to NFPA 704 indicates that: A. The material will explode on contact with air B. The material is radioactive C. The material can easily release oxygen to create or worsen a fire or explosion hazard D. The material reacts with water

Answers

The code OXY in the white bottom quadrant of a label conforming to NFPA 704 indicates that the material can quickly release oxygen to create or worsen a fire or explosion hazard.

What do you understand by term NFPA?

Since its founding in 1896, the National Fire Protection Association (NFPA) has worked to eliminate the death, injury, destruction of property, and economic loss caused by fire, electrical, and related hazards. Through more than 300 consensus codes and standards, research, training, education, outreach, and advocacy, as well as by collaborating with other parties with similar interests in advancing our goal, NFPA disseminates information and expertise. Our goal is to use knowledge, information, and passion to save lives and lessen suffering.

Thus from above conclusion we can say that the code OXY in the white bottom quadrant of a label conforming to NFPA 704 indicates that the material can quickly release oxygen to create or worsen a fire or explosion hazard.

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the first scientist that invented
vaccine​

Answers

Answer:

Edward Jenner i believe

Edward Jenner I’m sure

Choose the correct location and hand placement to perform abdominal thrusts on a choking child

Answers

Answer:Stand or kneel behind the child and wrap your arms around his or her waist.

Explanation:

kneel behind the child and place your fist on their chest with your other hand grabbing your fist

Which of the following are ways in which masks help prevent the spread of 5 points
viruses? (Select all that apply.) *
A Masks catch respiratory droplets before they evaporate, preventing them from
becoming microdroplets that can be easily carried through the air.
B. Masks reroute droplets to the sides of a person's face.
C. Masks reduce the momentum of droplets they don't catch.
D. Masks prevent us from breathing as deeply, making us produce fewer droplets.

Answers

the answer if i’m righr would be A

Gavin would like to apply the gate-control theory of pain to reduce his experience of pain following a sports injury. Which of the following could he do?
Group of answer choices

Answers

Answer: Increase Sensory Input (Rubbing, Touching, Feeling Cold Water etc) At the injury location

Explanation: The gate-control theory suggests that pain is sent through the spinal cord to the brain and along with sensory information, there are certain times where pain should be felt more than sensory inputs and vice versa. This comes into play when we talk about the 'gates,' or areas where the spinal cord and brain decide that pain or sensory input should be filtered out or enhanced. If the sensory information and pain information travel at the same time, it is thought that enough sensory information could lessen the feeling of pain; this is thought to be the cause of rubbing a scrapped knee or injury when we fall.

Anyways, since the choices weren't given, just know that any amount of sensory input near the injury location will reduce Gavin's experience of pain, according to the gate-control theory. I hoped this helped!

A food handler has diarrhea and has been diagnosed with an illness caused from Norovirus, what should the manager tell them to do

Answers

If a food handler has diarrhea and has been diagnosed with an illness caused by Norovirus, the manager should tell them to stay home and not work until they are symptom-free for at least 48 hours.

This is to prevent the spread of the virus to other staff and customers in the establishment. Norovirus is highly contagious, and it can be transmitted through contaminated food, water, surfaces, and contact with infected people. Symptoms include nausea, vomiting, diarrhea, stomach pain, fever, and headache. It can take anywhere from 12 to 48 hours for symptoms to appear after being infected with Norovirus.

According to the U.S. Food and Drug Administration (FDA), any food handler who is infected with Norovirus or has symptoms of vomiting or diarrhea should report their illness to the manager immediately. They should be advised to stay home and not come to work until they are symptom-free for at least 48 hours.

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Even brief interruptions of chest compressions may significantly reduce their effectiveness, but it is also important to assess the need to continue chest compressions. What is the preferred way to assess the heart rate during chest compressions?

Answers

Given what we know, we can confirm that the preferred way to assess the heart rate during chest compressions would be through the use of Electronic cardiac Monitoring.

What is Electronic cardiac monitoring?

This is the ideal way to monitor the heart rate during chest compressions. Though not always possible due to lack of equipment, this method is the preferred way whenever the necessary equipment is at hand due to it allowing you to monitor the heart rate without the need to interrupt chest compressions, greatly increasing their effectiveness.

Therefore, we can confirm that the preferred way to assess the heart rate during chest compressions would be through the use of Electronic cardiac Monitoring.

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A group of nursing students are reviewing information about the transmission of tuberculosis. The students demonstrate understanding when they state transmission occurs from person to person in which manner?

Answers

Answer:

Exposure to droplets emitted by the cough of an infected person

Explanation:  

Pulmonary tuberculosis is produced by the bacterium Mycobacterium tuberculosis. It is a contagious disease that can be transmitted between individuals by the inhalation of airborne particles released by the cough of individuals with tuberculosis. Consequently, M. tuberculosis is transmitted person-to-person by inhalation of aerosolized bacterium droplets.  

The immune system fight against tuberculosis infection by producing inflammatory responses in the lungs, this being an innate response that involves immune cells such as dendritic cells, macrophages, monocytes, and neutrophils.

Which are ways to avoid ineffective communication? Select all that apply.

Engage in active listening.

Wait until you are calm before talking.

Take notes on what the other person says.

Remain open-minded.

Raise your hand before speaking.

Answers

Answer:

Engage in active listening.

Wait until you are calm before talking.

Remain open-minded.

Explanation:

Hope this helps!

The study of human behavior is called psychology.

The correct answer is option E.

Effective communication is a 2-way system in which the receiver and the speaker both must follow the rules to avoid misunderstanding. The rules are as follows:-

Active listeningWait until you are calm before talking.Remain open-minded.

Interruption between the communication breaks the flow of the speaker and disturbs the communication, hence one must listen to others and wait for your turn to speak.

Hence, the correct answer is E that is Raise your hand before speaking.

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all of the following may be a part of your benefits package available from your employer, expect:

1) FICA
2) disability insurance
3) matching contributions to a retirement account
4) healthcare insurance

Answers

Answer:

3

Explanation:

source: just trust me bro

All of the following may be a part of the benefits package available to an employee except the matching contributions to a retirement account.

Employee benefits are the benefits which workers enjoy when they work with a particular organization.

Some examples of benefits that are given to employees include FICA, disability insurance, healthcare insurance, bonuses etc.

The Federal Insurance Contributions Act (FICA) tax is simply the federal payroll tax which helps in the provision of funds for social services such as Social Security and Medicare. Disability insurance is  simply a form of insurance which helps in the protection against loss of income that an individual may due to disability.

It should be noted that matching contributions to a retirement account isn't a benefit that's given to the employees.

In conclusion, the correct option is C.

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when caring for a person who has had pain for 3 days, what physiologic signs of pain would a nurse expect to find?

Answers

When caring for a person who has had pain for 3 days, a nurse would expect to find several physiologic signs of pain. These signs may include increased heart rate, elevated blood pressure, rapid breathing, diaphoresis (excessive sweating), dilated pupils, and muscle tension.

Pain triggers a physiological response in the body as a protective mechanism. The body's sympathetic nervous system becomes activated, leading to various physiological changes. Increased heart rate and elevated blood pressure are common responses to pain as the body prepares for a fight-or-flight response. Rapid breathing helps supply more oxygen to the body, while diaphoresis helps regulate body temperature. Dilated pupils are a result of the body's heightened alertness, and muscle tension may occur due to the body's natural reflex to protect itself.

These physiologic signs can provide valuable information to the nurse about the severity and impact of the pain on the individual. By assessing and monitoring these signs, the nurse can better understand the patient's pain experience and tailor appropriate interventions for pain management.

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Hypoxia and are pathologic reasons for tachycardia, a significant increase in the heart rate of a child.

a. true
b. false

Answers

Answer:

b. false

explanation

b. false

Hypoxia and anemia are examples of pathologic reasons for tachycardia, not "are" as stated in the statement

It is TRUE that Hypoxia and are pathologic reasons for tachycardia, a significant increase in the heart rate of a child.

Hypoxia and fever are pathologic reasons for tachycardia, a significant increase in the heart rate of a child. Hypoxia refers to a condition where there is insufficient oxygen supply to the body's tissues, leading to various physiological responses, including an increase in heart rate. The body attempts to compensate for the low oxygen levels by increasing cardiac output.

Similarly, fever, which is an elevated body temperature, can also cause tachycardia. As the body temperature rises, the heart rate increases as part of the body's response to the increased metabolic demands and to help dissipate heat.

Therefore, both hypoxia and fever can be pathological factors contributing to tachycardia in children.

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When educating a client is obese and lives a sedentary lifestyle, about the benefits of exercise, which common goals can the nurse and client develop together? Select all that apply.1. Self-reported vigorous physical activity measured by how many times per week2. Engage in aerobic exercise three times a week: for 10 minutes for 1 week, 20 minutes for 2 weeks, then 30 minutes for 3 weeks3. List diseases that can be reduced, including lowering blood pressure and preventing stroke and heart disease4. Improved mental health evidenced by healthy lifestyle choices and shared decision making5. Decreased heart rate from 88 and respiration rate from 28 to within normal limits within 6 weeks

Answers

All the listed goals can be developed together by the nurse and obese patient while discussing about the benefits of exercise. This is because a client who is obese and lives a sedentary lifestyle can benefit from exercise in many ways.

1. Self-reported vigorous physical activity measured by how many times per week: This goal can help the client track their progress and stay motivated to continue exercising.

2. Engage in aerobic exercise three times a week: for 10 minutes for 1 week, 20 minutes for 2 weeks, then 30 minutes for 3 weeks: This goal can help the client gradually increase their exercise duration and intensity, which can lead to better health outcomes.

3. List diseases that can be reduced, including lowering blood pressure and preventing stroke and heart disease: This goal can help the client understand the importance of exercise and how it can reduce the risk of developing certain diseases.

4. Improved mental health evidenced by healthy lifestyle choices and shared decision making: This goal can help the client improve their mental health through exercise and making healthy lifestyle choices.

5. Decreased heart rate from 88 and respiration rate from 28 to within normal limits within 6 weeks: This goal can help the client improve their cardiovascular health and reduce the risk of developing heart disease.

Overall, exercise can have many benefits for a client who is obese and lives a sedentary lifestyle. By developing common goals with the nurse, the client can stay motivated and achieve better health outcomes.

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What equipment is generally used to make lyophilized medications suitable for administering to the patient? a) Test tubes or sterile ampules O b) Petri dishes and sterile droppers c) Sterile syringes or graduated cylinders d) Measuring cups and clean, warm water

Answers

Petri dishes and sterile droppers is generally used to make lyophilized medications suitable for administering to the patient.

Mr. Fiacco is complaining of an irritation on his left arm where he had been applying cream prescribed by the provider. You know that Mr. Fiacco has a skin condition and he was given a prescription for a cream he was to apply to his left arm everyday for 10 days. You examine Mr. Fiacco's arm and note that the skin condition is gone, but now there is a red, irritated- looking area. You check the instructions on the prescription packaging and it says to apply the cream four times a day.

1. Is there a reason for the newly reddened area on his left arm?

2. Why do you think this problem occurred?

3. What should you do to correct the problem?​

Answers

the 123 are options I could tell you the ans

Which of the following statements concerning anger is false? Please select the best answer from the choices provided
A.There are positive aspects associated with feelings of anger.
B. Anger is one of the most passionate emotions.
C. Anger can result if one experiences limitation.
D. Anger is only a maladaptive emotion.

(Pychology)

Answers

Answer: D.

Explanation:

Answer:

D on edge

Explanation:

How did john watson have different view from sigmund freud ​

Answers

Explanation:

John Watson was fascinated by the discoveries of psychoanalysis, but he rejected Freud's central concept of the unconscious as incompatible with behaviorism.

Freud incorporated the concept of the unconscious to explain transference. Watson understood and was intrigued by Freud's definition of sexual transference, but he was searching for an explanation of transference that did not involve the unconscious (Watson & Morgan, 1917)

Answer:

John Watson was fascinated by the discoveries of psychoanalysis, but he rejected Freud's central concept of the unconscious as incompatible with behaviorism. After failing to explain psychoanalysis in terms of William James's concept of habit, Watson borrowed concepts from classical conditioning to explain Freud's discoveries. Watson's famous experiment with Little Albert is interpreted not only in the context of Pavlovian conditioning but also as a psychoanalytically inspired attempt to capture simplified analogues of adult phobic behavior, including the "transference" of emotion in an infant. Watson used his behavioristic concept of conditioned emotional responses to compete with Freud's concepts of displacement and the unconscious transference of emotion. Behind a mask of anti-Freudian bias, Watson surprisingly emerges as a psychologist who popularized Freud and pioneered the scientific appraisal of his ideas in the laboratory.

Explanation:

set as brainliest

Which of the following is an acceptable example of additional documentation?
A. Proof of Volunteer work at a local civic center
B. An award won at the local chili cook -off
C. A list of hobby's like canoeing or golf
D. A photo of yourself

Answers

Answer:

A

Explanation:

That shows you care about your community.

If you choose to talk about Hobbes, I want you to discuss the claims he makes and the progression his arguments take. Is he right about equality leading to conflict leading to war? Why/ why not? Is he right that we're all selfish and that we need a leviathan to keep us in check? Why/ why not?

Answers

Answer:

yes because every one wants to gain something from everything

He is wrong about equality leading to conflict leading to war, however, the need for an absolute sovereign, presented in Leviathan (1651), rests on the argument that the condition of anarchy is a condition of violent conflict. It is therefore crucial for Hobbes to demonstrate that men, despite being predominantly rational creatures, are incapable of organizing and maintaining cooperative arrangements without state oversight.

What does the book Leviathan say?

Hobbes describes Man in his Natural State as selfish, self-centered and insecure. He knows no laws and has no concept of justice; he only follows the dictates of his passions and desires, seasoned with a few hints of his natural reason. Where there is no government or law, men naturally fall into discord.

Leviathan is the synopsis of bobbism, it is about following a rigid dialectical development that leads us, from natural men to artificial man, to the Leviathan-State. For Hobbes, at the beginning of everything is movement. Man is a mechanism. From movement comes sensation.

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2. Which human activity would help reduce the amount of carbon dioxide in the

atmosphere?

a. decrease the buming of fossil fuels

b. decrease the number of recycling programs

c. increase the human population d increase the number of cars being driven

Answers

A. decrease the burning of fossil fuels

what is the common name for Proctalgia Fugax?

what is the common name for Proctalgia Fugax?

Answers

Proctalgia fugax, or levator spasm syndrome: more common in men than women. Symptoms: searing pain near coccyx or rectum that is brief but intense; usually resolves on its own; awakes patient from sleep but may occur anytime.

what are the line check requirements for a domestic air carrier pilot in command under 60 years of age?

Answers

In one of the types of airplanes that must be flown, the line check is necessary once every twelve months.

What is the 60-year-old pilot age restriction?

The Federal Aviation Administration (FAA) adopted the Airline Age 60 regulation in 1959, requiring all commercial airline pilots to retire at age sixty as a safety measure for pilots of aircraft carrying more than 35 passengers.

What does a pilot line check entail?The last pilot's assessment (skill test) after completing line training with an airline is known as a "line check" in aviation. A successful first line check allows the pilot to resume regular line flying operations. After that, a line check is undertaken annually to confirm the pilot's ability.When did the pilots' age limit of 60 change?

When the U.S. government first permitted foreign carriers to fly into the country with pilots over the age of 60 at the controls in November 2006, the movement to reform pilot retirement regulations gained speed.

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A patient comes into the clinic with manifestations of an acute respiratory infection. When analyzing the natural history of the condition, you would identify that this patient is in which phase?

Select one:

a.
Outcome

b.
Susceptibility

c.
Clinical

d.
Preclinical

Answers

Answer:

b

Explanation:

give brainlest pls

According to the AHDI, the smoking history is often dictated as a pack-year:

Answers

Yes that is true if y’all known because I got it right and I do a check up

In an experiment designed to study the effectiveness of a new drug, research participants who receive a placebo are participating in the ________ condition.

Answers

Answer:

control group

Explanation:

Not sure about the word "condition" in the question -  was that a mistake?

Lipophilic hormones are transported in blood ________ and bind to receptors located ________.
A) dissolved in the plasma : on the plasma membrane of the target cell
B) dissolved in the plasma : inside the target cell
C) bound to carrier proteins : on the plasma membrane of the target cell
D) bound to carrier proteins : inside the target cell
E) inside red blood cells : inside the target cell

Answers

The ideal response is A) dissolved in the plasma: on the target cell's plasma membrane.

Lipophilic hormones pass through the cell membrane and interact with receptors, usually found in the nucleus, to form bonds. The receptor for such hormone are usually exposed on the outer side of the cell. This modifies the receptor so that it can attach to DNA at a particular site (called the hormone response element). Lipid-soluble hormones enter the target cell and diffuse through the plasma membrane where they bind to a receptor protein. Lipophilic hormones do not dissolve in blood plasma and thus require a carrier protein to help them reach the target cell.

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What is the lower frequency of sickle-cell anemia among present day americans of west african ancestry, as compared to people living in west africa, attributed to?.

Answers

Gene flow is thought to be responsible for the lower prevalence of sickle-cell anemia among modern Americans of west African ancestry than among those who now reside in west Africa.

Describe gene flow.

Gene flow, often referred to as gene migration, is the interspecific exchange of genetic material between populations of a species, changing the genetic make-up of the receiving population. The population gets more varied and novel characteristic combinations are made possible by adding new alleles through gene flow. Gene flow happens often within the species through human population movement, whether voluntarily or forced.

Ancestry should be taken into consideration when analyzing genetic association studies and comparing traits in a community since it has an impact on how genetic illnesses are passed on.

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a small incision was made over the left proximal tibia and a traction pin was inserted through the bone to the opposite side. weights were then affixed to the pins to stabilize the closed tibial fracture temporarily until fracture repair could be performed. assign codes for physicians service.

Answers

A small incision was made over the left proximal tibia and a traction pin was inserted through the bone to the opposite side and weights were then affixed to the pins to stabilize the closed tibial fracture temporarily until fracture repair could be performed therefore the codes for physicians service will be 20650-LT, 823.00.

What is Medical coding?

This is referred to as the process in which medical diagnosis, treatment etc are translated into numeric and alpha-numeric characters in other to prevent ambiguity.

The medical code 20650 means that there is a general introduction or removal procedures on the musculoskeletal system such as the tibia etc as denoted in the example given above while the diagnosis code 823.00 describes a closed fracture of the tibia, unspecified part which is therefore the reason why 20650-LT, 823.00 was chosen as the correct choice.

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Calculate how many tablets for the weekly dose for each of the prescriptions below:

Order: Ibuprofen 200 mg po tid for 7 days

How many total tablets will the patient take over 7 days?

Give:

Answers

Answer: 21 tablets

Explanation:

Po tid means "three per day." Since the patient will take them for 7 days, that will be three times seven. (this will also be 4200 mg in total)

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