What is Zellweger syndrome and what are its clinical features and pathophysiology?

Answers

Answer 1

Zellweger syndrome is a rare, genetic disorder characterized by the absence or dysfunction of peroxisomes, cellular organelles that play a vital role in lipid metabolism and the detoxification of harmful substances. It belongs to a group of disorders called peroxisomal biogenesis disorders (PBD).

The clinical features of Zellweger syndrome vary but often include distinctive craniofacial abnormalities (such as a high forehead, flattened face, and a wide nasal bridge), profound intellectual disability, seizures, hearing and vision impairments, and liver dysfunction. Additionally, affected infants may have weak muscle tone (hypotonia), poor feeding, and breathing difficulties, often leading to life-threatening complications.

The pathophysiology of Zellweger syndrome involves mutations in PEX genes, which encode proteins necessary for peroxisome assembly and function. These mutations result in defective peroxisomes, leading to an accumulation of toxic compounds and an inability to synthesize essential molecules like plasmalogens, which are crucial for the normal function of cell membranes, particularly in the brain and lungs.

As a consequence, the affected cells and tissues suffer from oxidative stress, inflammation, and disrupted metabolic processes, which contribute to the severe clinical manifestations of the disorder. Unfortunately, there is no cure for Zellweger syndrome, and treatment mainly focuses on managing symptoms and providing supportive care. Most affected individuals do not survive beyond the first year of life.

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Related Questions

what is a brain tumer​

Answers

A brain tumour is a growth in your brain. It can be non-cancerous or cancerous . The cause of most brain tumours is unknown. Things that increase your chance of getting a tumour include getting older or being exposed to radiation.

a nurse is caring for a client who is postoperative day 3 after an appendectomy. the client is not eating well and reports feeling bloated and slightly queasy. what should be the nurse's priority action?

Answers

The priority action for the nurse on a patient on postoperative day 3 of appendectomy, not eating well and feeling bloated and queasy is to: complete a thorough gastrointestinal focused assessment.

Appendectomy refers to the operational removal of the vermiform appendix. Vermiform appendix is a vestigial organ present inside the digestive system of the humans. It is considered to be major surgery as their is the risk of damage to the bladder, large intestine, or small intestine during the surgery.

Gastrointestinal is the pathway of the digestive system starting from the mouth, leading to the stomach through esophagus, then both the intestines and ending at the anus.

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To help a resident enjoy their meal, you can:

Answers

Answer:

Turn on the radio in the dining room to pop musi

Explanation:

To assist a resident to enjoy their meal one can:

Assure proper placement: make it simple for the resident to eat as independently as possible.prescribe the proper texture for patients: Residents who are at risk of swallowing problems should be provided the best food and fluid textures to provide enough intake in a safe manner.Before assisting, wash your hands and complete hand hygiene between residents.Who are the residents?

Residents are individuals who live in nursing homes or other similar facilities who require assistance with eating to enhance their oral food and hydration intake ,social stimulation,  physical guidance, or full physical assistance.

What other things one can do to help a resident enjoy their meal?Serve each course separately.For people on minced or pureed diets, use a metal or hard plastic teaspoon or a parfait spoon.Make sure foods aren't too hot and the temperature is safe for residents.Allow time for chewing and swallowing, and attempt to watch the swallow.

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what are some key elements of the social model of
care?

Answers

Explanation:

1. know your loved one or client:Be aware of their lives preference and desire

2. Communicate for success

The social model of care focuses on addressing systemic barriers and promoting a society that values diversity, inclusion, and social justice. It aims to empower individuals and promote their rights, dignity, and quality of life within their social context.

Some key elements of the social model of care include:

Social inclusion: Fostering a sense of belonging and actively including individuals in all aspects of society, irrespective of their abilities or disabilities. This involves promoting equal opportunities and challenging discrimination and social barriers.Person-centered approach: Placing the person at the center of care, acknowledging their autonomy, preferences, and choices. It emphasizes the importance of involving individuals in decision-making processes and tailoring care to their specific needs and goals.Collaboration and participation: Encouraging active involvement and collaboration between individuals, their families, caregivers, and the wider community. It recognizes the value of collective efforts and partnerships in providing holistic care and support.Access to support services and resources: Ensuring equitable access to necessary support services, resources, and accommodations. This includes physical accessibility, assistive technologies, communication aids, and appropriate healthcare and rehabilitation services.Social and environmental factors: Recognizing the impact of social, cultural, and environmental factors on individuals' well-being. This includes addressing social determinants of health, promoting social cohesion, and creating inclusive environments that enable individuals to fully participate in society.

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13
Select the correct answer.
What gives a cigarette its flavor?
® A
Nicotine
• B.
Tar
Carcinogens
D.
Artificial flavoring

Answers

Answer:

D artificial flavouring eg Menthol

_____is another medical term that means urination; micturition.

Answers

Urinary tract is the term of peeeee
Micturition: Urination; the act of urinating.

The jelly-like substance between the cell membrane and nucleus that contains the organelles and other cell bodies.

Answers

The cytoplasm is a jelly-like substance between the cell membrane and nucleus that contains the organelles and other cell bodies.

The cytoplasm is made up of water, salts, protein and some other organisms enclosed by the cell membrane. Organelles can operate within the cell by using cytoplasm as a platform.

Growth, expansion, and replication of cells happen in the cytoplasm of the cell. The cytoplasm is also for metabolic activities. It provides a proper shape to the cell and it keeps the organelles in their position.

The cytoplasm contains molecules and enzymes that are responsible for different chemical reactions.

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Describe three (3) ways that you can make sure you understand what your boss is asking for in his/her email or memo?

Answers

Three ways that you can make sure that you understand what your boss is asking for in his or her email or memo are the following;

1.) individual should summarize his or her boss in terms of his or hers instructions to be able to know whether what his or her boss is saying it right.

2.) individual should keep what his or her boss says in a written note to be able to have a basis and recall his or her instructions.

3.) That individuals should rephrase what your boss is saying to ask whether there are any directions in terms of your understanding on what your boss said.

Which disease impairs the function of the skeletal system by making bones thinner and more porous?.

Answers

I believe the answer is Osteoporosis.

Explain the structural reasons why the highest and lowest mp. analgesics have such different melting temperatures. Highest: Acetaminophen m.p. 170°C Lowest Ibuprofen m.p. 76°C

Answers

The higher melting point of acetaminophen is due to its more complex molecular structure while the lower melting point of ibuprofen is due to its simpler molecular structure.

The highest and lowest melting point (mp) analgesics, acetaminophen and ibuprofen, have different melting temperatures due to differences in their molecular structure.

Acetaminophen has a more complex molecular structure than ibuprofen, which includes a central benzene ring and two additional functional groups, an amine and a carboxylic acid. These additional functional groups increase the intermolecular forces of attraction between the acetaminophen molecules, which in turn increases the energy required to break the bonds and melt the crystal.

On the other hand, ibuprofen has a simpler molecular structure with a single functional group, a carboxylic acid. This lower number of functional groups and lower intermolecular forces of attraction result in a lower melting point for ibuprofen.

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a major goal of healthy people 2030 is to increase the number of people with medical insurance. what is the target goal for this objective?​

Answers

The target goal for increasing the number of people with medical insurance in Healthy People 2030 is to ensure that at least 90% of the population has some form of health insurance coverage.

This is an important objective because having medical insurance is crucial for accessing necessary healthcare services, managing chronic conditions, and preventing illness. Lack of insurance can result in financial barriers to care, leading to delayed or inadequate treatment and poorer health outcomes. By increasing the number of people with medical insurance, Healthy People 2030 aims to improve health equity and reduce health disparities, ensuring that everyone has access to the care they need to achieve optimal health.

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Sue Larson am active 16 year old presented to the office with ankle fracture the provider has order you to help fit her for crutches. She states she has never had an injury like this before and that she doesn’t think she needs assistance it will be fun and easy to use crutches

Answers

Answer: well first of all using crutches is not easy and fun i was stuck in crutches for one month and half first wrapped the ankle up then have them  try and walk around with the crutches  

Explanation:

I'll tell the patient that crutches will help her walk better as they'll provide her with the needed support when they walk.

Crutches are often used by someone who has an injury in the leg and cannot walk properly.

Since Sue has an ankle fracture, using crutches will her her regain stability and balance. Using the crutches is also important as it'll reduce the stress on the leg.

In conclusion, the above reasons will be given to Sue to enable her take the crutches.

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renal replacement therapy includes dialysis and transplantation, whereas treatment consists of measures to slow deterioration and maintain renal function.
T/F

Answers

The given statement "renal replacement therapy includes dialysis and transplantation, whereas treatment consists of measures to slow deterioration and maintain renal function" is True.

Renal replacement therapy includes dialysis and transplantation as the main treatment options for end-stage renal disease (ESRD) when the kidneys can no longer function adequately.

Dialysis involves the use of a machine to filter and purify the blood, removing waste products and excess fluid. Transplantation involves the surgical replacement of a failed kidney with a healthy donor kidney. These interventions aim to replace the lost or impaired renal function.

On the other hand, treatment for kidney disease focuses on managing the underlying cause, addressing symptoms, and slowing down the progression of kidney damage.

This may involve medications to control blood pressure, manage diabetes, reduce proteinuria, and treat complications.

Additionally, lifestyle modifications such as adopting a healthy diet, maintaining a healthy weight, and avoiding harmful substances are crucial in maintaining renal function and overall well-being.

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Why are there ethical issues surrounding end-of-
life care?
because patients have the right to refuse end-
of-life care
because patients do not have the right to
make end-of-life decisions
because patients have the right to accept life
support
because sometimes patients cannot make
decisions for themselves

Answers

Answer:

because sometimes patients cannot make decisions for themselves.

Explanation:

Answer:

A,C,D

Explanation:

on edg2020

I’ll give BRAINLIST??What organs/organs systems does schizophrenia affect and how does it affect it?

Answers

Schizophrenia is associated with changes in the structure and functioning of a number of key brain systems, including prefrontal and medial temporal lobe regions involved in working memory and declarative memory, respectively.
Key structures of the brain. Ex. Medial temporal lobe. It affects working memory and declarative memory.

Older adults often experience which of the following?


Increased self-identity


Increased sexual activity


Decreased acute illness


Increased productivity

Answers

Probably increased self-identity

Older adults often experience increased self-identity as they age which is denoted as option A.

What is Self identity?

This refers to the ways in which an individual views himself and increases as people get older.

The other options will experience a decrease as people get old which is why self-identity is the most appropriate choice.

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In behaviorism, the stimulus-response method highlighted the contributions of

Answers

Answer:

of a stimulus of some sort

Explanation:

In psychology, the stimulus-response theory is used to indicate that the behavior is a consequence of the interplay between a stimulus and its corresponding response. The behaviorism states that a stimulus will produce a corresponding reaction (response) either by pairing it with a reflective trigger or by rewarding it with a response (i.e., when the stimulus is present). This current of thinking focuses on the modification in observable behaviors as a result of the learning process.

What first antibody Response to viral infections​

Answers

Answer:

hello the awnser should be Fc receptors

4
1 point
The fibrous protein that makes up most of the hair is called ?

Answers

Answer:

Keratin

Explanation:

It forms the main structural component.

Pseudo-relapse of MS + tx of the cause + still having MS flare --> next step?

Answers

The following step would be determined by the cause, of the pseudo-relapse as well as severity and nature of the MS flare. Close monitoring and supportive measures may be sufficient if the flare is mild and does not interfere with daily activities.

If the flare is severe or causing significant functional impairment, disease-modifying therapy may be required to control disease activity and prevent future relapses.

Addressing and treating the underlying cause of the pseudo-relapse may also be required to avoid future episodes.

Adjusting medications, managing infections or other triggers, or addressing other health conditions that may be contributing to the flare are all possibilities.

Thus, it is critical to collaborate closely with a healthcare provider to determine the best next steps.

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a client with severe preeclampsia is receiving a magnesium sulfate infusion. which assessment finding would be most

Answers

The assessment finding that would be most important for a client with severe preeclampsia receiving a magnesium sulfate infusion is the level of consciousness.

Magnesium sulfate is a central nervous system depressant that is given to prevent seizures in clients with severe preeclampsia. As a result, it is essential to monitor the client's level of consciousness frequently to ensure that the client does not become overly sedated.

The nurse should assess the client's level of consciousness using the Glasgow Coma Scale (GCS). The GCS is a standardized tool used to assess the level of consciousness in clients with neurological injuries or disorders. The GCS score ranges from 3 to 15, with 15 indicating a fully alert and oriented client, and 3 indicating a comatose client.

If the client's GCS score drops below 9, it indicates that the client is experiencing significant central nervous system depression and requires immediate intervention. The nurse should notify the healthcare provider and prepare to administer a reversal agent such as calcium gluconate.

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The nurse lightly strokes the sides of a client's abdomen, above and below the umbilicus. For which reflex is the nurse testing?

a)Abdominal
b)Ankle clonus
c)Cremasteric
d)Babinski

Answers

The nurse stroking the sides of a client's abdomen, above and below the umbilicus is testing for the reflex of the a) Abdominal.

What is the abdominal reflex?

The abdominal reflex is a superficial reflex that is elicited by stroking the skin of the abdomen. The reflex is tested by stroking the skin from the lateral borders of the abdomen towards the umbilicus.

A normal response is a contraction of the abdominal muscles, which pulls the umbilicus towards the stimulus. Therefore, the nurse is testing the abdominal reflex by lightly stroking the sides of the client's abdomen, above and below the umbilicus.

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The nurse is testing for the abdominal reflex when she lightly strokes the sides of the client's abdomen, both above and below the umbilicus. reflex involves the stimulation of the sole of the foot, resulting in the dorsiflexion of the big toe and fanning of the other toes. A

None of these reflexes are associated with the nurse's action of stroking the sides of the abdomen.

The abdominal reflex is a superficial reflex that involves the contraction of the abdominal muscles in response to stimulation of the skin.

It is a protective reflex that helps evaluate the integrity of the spinal cord and the functioning of the sensory and motor pathways.

The normal response for the abdominal reflex is the contraction of the abdominal muscles, causing the umbilicus to move toward the stimulated side.

This indicates that the sensory fibers from the skin are transmitting the stimulus to the spinal cord, and the motor fibers are responding appropriately.

The other options provided are not relevant to the nurse's testing in this scenario.

Ankle clonus refers to a repetitive, rhythmic muscle contraction and relaxation that occurs in response to a quick stretch of the calf muscles, usually elicited by briskly dorsiflexing the foot.

Cremasteric reflex is the contraction of the cremaster muscle in response to stroking or tapping the inner thigh, causing the ipsilateral testicle to be pulled upward.

Therefore, the correct answer is a) Abdominal reflex.

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Write a short explanation understandable to a patient's family on why antibiotics are being combined in the treatment of their family member.

Answers

we are adding antibiotics to your (family member enter here) treatment because your (family member enter here) is rejecting the treatment or the treatment is not strong enough.

A nurse is instructing a client who has GERD about positions that can help minimize the effects of reflux during sleep. Which statement indicates to the nurse that the client understands the instructions?
1-I will sleep on my left side
2-I will sleep on my right side
3-I will sleep on my back with my head flat
4-I will sleep on my stomach with my head flat

Answers

The statement that indicates the client understands the instructions is:"I will sleep on my left side."

Sleeping on the left side is generally recommended for individuals with GERD (gastroesophageal reflux disease) as it can help reduce the effects of reflux. When sleeping on the left side, the position of the stomach and esophagus helps to prevent the backward flow of stomach acid into the esophagus, reducing the likelihood of acid reflux symptoms.

Sleeping on the right side or on the stomach with the head flat can actually worsen reflux symptoms by allowing stomach acid to flow more easily into the esophagus. Sleeping on the back with the head flat may also contribute to acid reflux as it allows gravity to pull stomach acid upward.

It's important for individuals with GERD to discuss their specific symptoms and preferences with their healthcare provider to determine the most suitable sleeping position and to incorporate other lifestyle modifications and treatments to manage their condition effectively.

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What are the drivers of the healthcare industry's focus on patient satisfaction and on employing resources in an effective manner? Discuss various patient satisfaction evaluation tools, how they affect funding, and physician salaries. Discuss CMS's value on patient satisfaction and how it affects reimbursement. Summarize succinctly in a conclusion/summary paragraph.

Answers

Patient satisfaction is a key driver of quality care in the healthcare industry. Healthcare organizations must utilize various evaluation tools to measure and improve patient satisfaction scores to maintain financial stability and remain competitive.

The healthcare industry focuses on patient satisfaction and employing resources in an efficient manner to provide high-quality care and improve patient outcomes. The following are the drivers of this focus:

Changing Payment Models: Healthcare providers' reimbursement is increasingly tied to quality and patient satisfaction scores. This motivates providers to focus on improving patient satisfaction to maintain financial stability.Competition: Healthcare organizations must compete with one another to attract patients and maintain market share. Patients are more likely to choose providers who have a reputation for providing high-quality care and positive patient experiences.Patient-Centred Care: The healthcare industry is shifting towards a more patient-centred approach to care, which requires providers to focus on the individual needs and preferences of their patients. This approach involves involving patients in decision-making, providing education and support, and fostering trust and communication.

Various patient satisfaction evaluation tools include surveys, focus groups, and direct feedback from patients. These tools allow healthcare organizations to gather data on patients' experiences and identify areas for improvement. The data is used to guide quality improvement initiatives, staff training, and resource allocation decisions.

Positive patient satisfaction scores may attract additional funding from investors or donors. Additionally, physicians with high patient satisfaction scores may receive bonuses or salary increases.

The Centers for Medicare and Medicaid Services (CMS) ties reimbursement to patient satisfaction scores. CMS has implemented the Hospital Consumer Assessment of Healthcare Providers and Systems (HCAHPS) survey, which measures patients' perceptions of their hospital experience. Hospitals must meet specific benchmarks to receive full reimbursement from Medicare. Therefore, organizations that perform poorly on the HCAHPS survey may receive lower reimbursement rates, which can impact their financial stability.

In conclusion, patient satisfaction is a key driver of quality care in the healthcare industry. Healthcare organizations must utilize various evaluation tools to measure and improve patient satisfaction scores to maintain financial stability and remain competitive. Additionally, CMS has implemented programs that tie reimbursement to patient satisfaction scores, which further incentivizes healthcare organizations to prioritize patient satisfaction.

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What are the requirements when checking in C3-5 products

Answers

Handwritten marks such as circles, checkmarks, slashes, and so on are required.

What are C3-5 and pse?

The C3-5 and Pse are certificates that give the products a grade. Using CFRX, all Cill-Vs should be checked into the electronic delivery check-in screen.

Each page of the invoice contains a signature. Each page of the invoice must include the date received.

The date when the Ciii-v and Pse products were obtained must be documented on each page of the invoice.

As a result, the prerequisites are handwritten marks such as circles, checkmarks, slashes, and so on.

Thus, these are the basic requirements when checking in C3-5 products.

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all of the following are true of vitamin b6 except that: group of answer choices it acts as a coenzyme it helps make non-essential amino acids it helps with symptoms of pre-menstrual syndrome (pms) it is needed to break down energy in pro, cho, and fat

Answers

Because amino acids serve to transfer the amino group, vitamin B6 is crucial to their metabolism.

The definition of metabolism is the ongoing chemical reactions that take place within body cells as food is absorbed and then transformed into energy for usage by the body. The byproduct of protein digestion is amino acids. The breakdown of amino acids into ketone bodies or carbon dioxide occurs during the metabolism of amino acids in the liver. Transferring the amino group is the primary activity of vitamin B6, which is involved in numerous enzyme processes in the metabolism of amino acids. Because amino acids serve to transfer the amino group, vitamin B6 is crucial for the metabolism of amino acids.

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Vitamin B12 deficiency may lead to: Group of answer choices Hair loss Insomnia Dry scales on the scalp Numbness and tingling of the hands

Answers

Vitamin B12 deficiency may lead to: hair loss, insomnia, dry scales on the scalp, and numbness and tingling of the hands.

Vitamin B12, also known as cobalamin, is a vital vitamin that is essential for the healthy functioning of the body's nerve cells, red blood cells, and DNA synthesis. Vitamin B12 deficiency occurs when there is a lack of this vitamin in the diet or the body is unable to absorb it from the food.Hair loss, insomnia, dry scales on the scalp, and numbness and tingling of the hands are some of the symptoms that may be caused by a lack of vitamin B12 in the body.

Other symptoms include fatigue, weakness, constipation, weight loss, depression, and memory loss. If these symptoms persist, a doctor should be consulted as they may indicate a more severe deficiency or underlying medical condition.

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Individuals can survive quite normally when their atria no longer function because of the relatively minor contribution ______ makes to ventricular volume

Answers

Individuals can survive quite normally when their atria no longer function because of the relatively minor contribution atria makes to ventricular volume.

The statement is referring to the function of the atria in the heart. The atria are responsible for receiving blood returning to the heart and pushing it into the ventricles, which then pump the blood out to the rest of the body. While the atria play an important role in regulating blood flow and maintaining cardiac output, they contribute relatively little to ventricular volume. As a result, individuals can survive normally even if their atria are not functioning properly. This is because the ventricles are capable of pumping blood on their own, albeit with potentially reduced efficiency. However, in some cases, atrial dysfunction can lead to more serious complications and require medical intervention.

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.In addition to the vomiting and having a swollen-looking stomach, what is likely to happen to the person who has drowned and is unresponsive?
A. the person will shiver uncontrollably
B. the person will have normal skin color
C. the person will be easy to revive with an AED
D. the person will have foam coming out of the nose or mouth

Answers

In addition to vomiting and a swollen-looking stomach, the person who has drowned and unresponsive : D) the person will have foam coming out of the nose or mouth. Hence, option D) is the correct answer.

The person is also likely to have abnormal skin color, potentially appearing pale or blue due to a lack of oxygen. They may not be shivering uncontrollably, as the body's natural response to cold water is to go into a state of shock and conserve energy.

Reviving a person who has drowned and is unresponsive with an AED can be challenging as the heart may have stopped or be in a state of abnormal rhythm. It is important to immediately seek medical attention and begin CPR until professional help arrives.

In addition to vomiting and a swollen-looking stomach, a drowned and unresponsive person is likely to have foam coming out of their nose or mouth. This is due to the accumulation of fluid and secretions in the airways and lungs.

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