NUR 407 Advanced Physiology and Pathophysiology Paper

NUR 407 Advanced Physiology and Pathophysiology Paper

NUR 407 Advanced Physiology and Pathophysiology Paper

(1A).   

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  1. What is the most appropriate next step to confirm the diagnosis of rhabdomyolysis in this patient? Explain your answer.

The normal range for creatine kinase (CK) levels in females typically varies between 30 and 135 U/L (Cabral et al., 2020). The patient’s creatine kinase (CK) level of 118,342 is significantly elevated. A creatine kinase (CK) level that exceeds 5-10 times the upper limit of normal is deemed adequate for confirming the existence of rhabdomyolysis. There is no need for additional testing to validate this diagnosis.       

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  1. What is the most likely etiology of this patient’s recurrent rhabdomyolysis?

Carnitine palmitoyl transferase II (CPT-II) deficiency is the prevailing cause of recurrent rhabdomyolysis, aligning with the circumstances of this particular patient. Carnitine palmitoyl transferase II (CPT-II) deficiency arises due to an insufficiency of the enzyme known as carnitine palmitoyl transferase (Cabral et al., 2020). The patient may encounter a gradual decline in muscular strength and occasional instances of heightened symptoms, ultimately resulting in the development of rhabdomyolysis. Based on the absence of recent exercise and lack of recent trauma, it is highly probable that the recurring rhabdomyolysis experienced by the individual can be attributed to this factor. 

  1. Rhabdomyolysis is a rapid breakdown of muscle. Detail the pathophysiology behind rhabdomyolysis.

Rhabdomyolysis, also known as myoglobinuria, refers to the swift degradation of muscle tissue, resulting in the release of intracellular components, such as the protein pigment myoglobin, into the circulatory system (Rauch et al., 2022). The syndrome is characterized by a pathophysiological hallmark wherein there is an elevation in intracellular free-ionized calcium levels, which can be attributed to either cellular energy depletion or direct rupture of the plasma membrane.     

  1. What are the possible complications of rhabdomyolysis?

Complications that may arise from rhabdomyolysis encompass the development of compartment syndrome and acute kidney injury. AKI is a highly consequential complication that arises in the aftermath of rhabdomyolysis, typically manifesting within a few days after the initial presentation. This condition occurs in approximately 33% of patients (Rauch et al., 2022).        

  1. Which medications may cause rhabdomyolysis?

Rhabdomyolysis is commonly observed in cases of severe drug poisoning. The mechanisms implicated are contingent upon the specific drug in question. The administration of general anesthetic agents and the excessive use of central nervous system depressant drugs, including narcotics, cyclic antidepressants, benzodiazepines, antihistamines, and barbiturates, have been found to induce rhabdomyolysis (Rauch et al., 2022). This condition is primarily attributed to pressure-induced ischemia resulting from prolonged immobilization.

(1B).   

  1. Both osteoarthritis and rheumatoid arthritis present with several of the same manifestations, such as joint pain and stiffness. How do the two disorders differ? (50 words and one citation within the past four years).

While both OA and RA are diseases that affect the joints, their causes are extremely dissimilar. While RA is an autoimmune illness in which the body’s immune system assaults the joint tissues, OA is a condition thought to be brought on by the wear and tear of time (Abramoff & Caldera, 2020). On a single side of the body, OA will only affect a few joints. Additionally, RA results in flu-like symptoms such as fever and malaise.      

  1. A child born with osteogenesis imperfecta is at risk for pathological fractures. Explain the pathophysiology of this disorder and the associated risk factors. (50 words and one citation within the past four years).

A defect in the production or degradation of type I collagen results in osteogenesis imperfecta (OI), a hereditary condition of the connective tissues. It is marked by a lower bone density and an increased propensity for bone fractures. A kid has a 50% probability of getting osteogenesis imperfecta if one parent has the disorder (Etich et al., 2020).

(2A).

  1. Why is the lack of clinical manifestations in the ROS above significant?

This observation holds significance as it indicates that the cancer is currently in its initial stage. Symptoms indicative of advanced-stage melanoma encompass a range of manifestations, including but not limited to pain, fatigue, potential jaundice, and abdominal discomfort (Tian & Guo, 2020). Due to the absence of these symptoms and the patient’s apparent state of well-being, it can be inferred that he is in the initial phase of cancer.        

  1. Based on this rather limited information provided under History, ROS, SKIN, and HEENT above, which subtype of melanoma is most likely?

The most probable subtype of melanoma is nodular melanoma (Tian & Guo, 2020). The rationale behind this observation is that the mole situated on the scalp exhibits all the defining features associated with nodular melanoma, namely symmetry, dome-shaped morphology, and dark pigmentation. 

  1. Are any of the laboratory blood test results above abnormal and, if so, what is suggested by the abnormality?

The laboratory blood tests indicate that the levels of aspartate aminotransferase (AST) and alanine aminotransferase (ALT) are both elevated, which is considered abnormal. The liver’s impaired functionality can be attributed to potential adverse symptoms resulting from the metastasis of the tumor throughout the body (Tian & Guo, 2020). The test results indicate that there is abnormal liver function.         

  1. What is the current probability that this patient will be alive in 10 years?

Upon careful examination of the patient’s nodular melanoma diagnosis, the presence of liver involvement, brain lesions, enlarged lymph nodes, and tumor size, it is evident that the likelihood of the patient’s survival beyond a decade is minimal. The likelihood of survival for individuals afflicted solely with nodular melanoma is approximately 60%, whereas the presence of additional factors significantly diminishes this probability to less than 20% (Luther et al., 2019).

 (2B).   

  1. What is the pathological process in the development and presentation of eczema versus psoriasis?

Both eczema and psoriasis are characterized by immune system involvement, albeit through distinct mechanisms. Psoriasis is characterized by an excessive immune system response, resulting in an accelerated proliferation of skin cells (Cunliffe et al., 2021). The accumulation of these cells on the epidermis results in the formation of thick scales or plaques, which exhibit characteristics such as dryness, flakiness, and discomfort. The etiology of eczema remains incompletely understood, although it is widely accepted that a multifactorial interplay of genetic factors, immune system dysregulation, and environmental triggers contribute to its development. Individuals afflicted with eczema often exhibit hyperactive immune systems, which, upon encountering external or internal stimuli, elicit an inflammatory response that renders the skin susceptible to dryness, irritants, and allergens.           

  1. Discuss the pathological process and presentation of atopic dermatitis and its relationship to asthma and allergies.

Several key factors contribute to the development of atopic dermatitis (AD), including genetic predisposition, disruption of the epidermal barrier, and dysregulation of the immune system. The initial stage in the progression of the atopic march and atopic dermatitis (AD) may involve a compromised skin barrier, resulting in subsequent skin inflammation and the development of allergic sensitization. Both allergies and asthma are associated with inflammation, which is frequently triggered by a pronounced response to environmental allergens. Previous studies have indicated that immunoglobulin E (IgE) is involved in the triad (Obbagy et al., 2019). 

(3A).   

  1. Review the hypothalamus, pituitary, and ovarian axis, and explain the pathophysiology of PCOS. Explain the role of hormones in the development of this disorder. How does PCOS contribute to infertility?

PCOS is a complex condition characterized by the presence of multiple cysts on the ovaries, as well as elevated levels of androgens (male hormones) and irregular menstrual cycles. The pathophysiology of PCOS encompasses fundamental abnormalities in the hypothalamic-pituitary axis, insulin secretion, and responsiveness, as well as ovarian function (Liao et al., 2021). The anticipated connection between insulin function and ovarian function arises from the role of insulin in regulating ovarian activity. Excessive insulin levels prompt the ovaries to generate androgens, which can subsequently result in anovulation. Follicular maturation arrest is a characteristic indication that the ovaries are abnormal. PCOS is characterized by a disruption in the hormonal equilibrium among women, which hampers the development and release of eggs from the ovaries, resulting in impaired ovulation and subsequent infertility. 

  1. Explain the role of genetics and oncogenes in the development of reproductive cancers. In addition, examine if genetically linked reproductive cancers are only seen in women or are also in men.

Cancer development can occur as a result of the accumulation of genetic damage in the form of activated proto-oncogenes. The RAS proto-oncogenes serve as targets for numerous genotoxic carcinogens, with the potential for activation of the proto-oncogene at different stages of the carcinogenic process (Al-Rugeebah et al., 2019). Similar to females, males are also susceptible to the development of hereditary reproductive cancers, including breast and prostate cancer, as a result of a pathogenic germline variant present in either the BRCA1 or BRCA2 gene.

(3B).   

  1. Explain the pathophysiological development of breast cancer. Detail the varying types and oncogenic influences for each type.

Breast cancer is a multifaceted, molecular ailment characterized by the dysregulation of various cellular pathways associated with cell growth and proliferation. These pathways include MAPK, RB/E2F, P13K/AKT/mTOR, and TP53 (Al-Rugeebah et al., 2019). These pathways exemplify molecular mechanisms that are comprised and controlled by a multitude of genes. The genes implicated in the regulation of cell growth and proliferation encompass various oncogenes such as HER2, c-MYC, and RAS, as well as the ER genes. Additionally, the genes responsible for cell cyclin D1 and E, and the tumor suppressor genes RB, TP53, and PTEN, along with the breast cancer susceptibility genes BRCA1 and BRCA2, are also subject to alterations. Breast cancers can be categorized into two primary classifications, namely carcinomas and sarcomas, based on the specific cell origin implicated in the disease. 

  1. Menopause comes at different ages for women. What are the changes causing menopause and what are the changes experienced after menopause?

The onset of menopause is attributed to the diminished functionality of ovarian follicles and a reduction in the levels of estrogen in the bloodstream (Talaulikar, 2022). The process of menopausal transition typically manifests as a gradual onset, often characterized by alterations in the regularity and patterns of the menstrual cycle. A variety of symptoms have been identified in association with the postmenopausal syndrome. Common symptoms experienced after menopause include hot flushes, irritability, mood swings, insomnia, dryness of the vaginal area, impaired concentration, mental confusion, stress-related urinary incontinence, urge-related urinary incontinence, symptoms associated with osteoporosis, depression, headaches, vasomotor symptoms, and insomnia, among others.

(4A).   

  1. Discuss the etiology, presentation, transmission, and management of a sexually transmitted infection.

Sexually transmitted diseases (STDs), also known as sexually transmitted infections (STIs), are typically contracted through sexual intercourse. STDs can be transmitted between individuals through the exchange of bodily fluids, such as blood, semen, vaginal secretions, and other relevant fluids. These diseases are caused by bacteria, viruses, or parasites. Typically, the manifestation of symptoms occurs within a time frame of approximately 2 to 3 weeks, although symptoms can manifest earlier or significantly later than this anticipated period (Tuddenham et al., 2022). The symptoms encompass the presence of one or multiple inconspicuous and non-painful lesions or ulcers located on the genital region. The individual may experience a rash characterized by irregular patches of discoloration on the skin, as well as symptoms resembling those of influenza, which may manifest several weeks after the initial occurrence. Additional symptoms encompass ulcers in the genital, anal, perianal, or oral regions, as well as urethritis, cervicitis, discharge from the urethra or vagina, and the presence of genital warts.

Various antibiotics are employed in the treatment of distinct STIs. For example, the management of Chlamydia involves the administration of azithromycin or doxycycline (Tuddenham et al., 2022). On the other hand, the management of Gonorrhea typically entails the use of ceftriaxone. In cases where patients are allergic to ceftriaxone, an alternative treatment option may involve the combination of gentamicin and azithromycin. The management of syphilis typically involves the administration of Penicillin G. In cases where patients exhibit an allergic reaction to penicillin, alternative antibiotics such as doxycycline or tetracycline may be prescribed.

(4B).   

  1. Based on the following information, create a list of three differential diagnoses and explain why you would include them on your list. 

Pericarditis: Pericarditis is distinguished by the presence of concave ST segment elevation on the electrocardiogram (ECG), as observed in the case of this patient, in contrast to the upward convexity typically seen in myocardial infarction (Andreis et al., 2021). The presence of elevated levels of antibodies against the Coxsackie virus indicated the occurrence of viral pericarditis. The echocardiogram findings did not indicate the presence of pericardial fluid and demonstrated satisfactory left ventricular muscle function.

Myocardial Infarction: The occurrence of myocardial infarction at the age of 34 years is relatively infrequent, although it is not absent. Cardiac pain, along with other forms of significant pain, typically exhibits a longer duration. It is worth noting that brief episodes of stabbing left-sided chest pains, similar to those experienced by the patient in question, are frequently encountered (Chaulin & Duplyakov, 2020). Pericarditis can manifest as a sequela of myocardial infarction, typically presenting within a day or more following the initial event.

Upper Respiratory Tract Infection: The observed increase in antibody titers against Coxsackie virus indicates the presence of viral pericarditis. The coxsackievirus frequently induces a febrile upper respiratory tract infection characterized by symptoms such as sore throat and/or rhinorrhea (Murgia et al., 2020).

The patient’s medical history and the results of the studies did not point to any other potential causes of chest discomfort, such as musculoskeletal or oesophageal pain.

References

Abramoff, B., & Caldera, F. E. (2020). Osteoarthritis: Pathology, Diagnosis, and Treatment Options. Medical Clinics of North America, 104(2), 293–311. https://doi.org/10.1016/j.mcna.2019.10.007

Al-Rugeebah, A., Alanazi, M., & Parine, N. R. (2019). MEG3: an Oncogenic Long Non-coding RNA in Different Cancers. Pathology & Oncology Research, 25(3), 859–874. https://doi.org/10.1007/s12253-019-00614-3

Andreis, A., Imazio, M., Casula, M., Avondo, S., & Brucato, A. (2021). Recurrent pericarditis: an update on diagnosis and management. Internal and Emergency Medicine. https://doi.org/10.1007/s11739-021-02639-6

Cabral, B. M. I., Edding, S. N., Portocarrero, J. P., & Lerma, E. V. (2020). Rhabdomyolysis. Disease-a-Month, 66(8), 101015. https://doi.org/10.1016/j.disamonth.2020.101015

Chaulin, A. M., & Duplyakov, D. V. (2020). Biomarkers of acute myocardial infarction: diagnostic and prognostic value. Part 1 (literature review). Journal of Clinical Practice. https://doi.org/10.17816/clinpract34284

Cunliffe, A., Gran, S., Ali, U., Grindlay, D., Lax, S. J., Williams, H. C., & Burden‐Teh, E. (2021). Can atopic eczema and psoriasis coexist? A systematic review and meta‐analysis. Skin Health and Disease, 1(2). https://doi.org/10.1002/ski2.29

Etich, J., Leßmeier, L., Rehberg, M., Sill, H., Zaucke, F., Netzer, C., & Semler, O. (2020). Osteogenesis imperfecta—pathophysiology and therapeutic options. Molecular and Cellular Pediatrics, 7(1). https://doi.org/10.1186/s40348-020-00101-9

Liao, B., Qiao, J., & Pang, Y. (2021). Central Regulation of PCOS: Abnormal Neuronal-Reproductive-Metabolic Circuits in PCOS Pathophysiology. Frontiers in Endocrinology, 12. https://doi.org/10.3389/fendo.2021.667422

Luther, C., Swami, U., Zhang, J., Milhem, M., & Zakharia, Y. (2019). Advanced stage melanoma therapies: Detailing the present and exploring the future. Critical Reviews in Oncology/Hematology, 133, 99–111. https://doi.org/10.1016/j.critrevonc.2018.11.002

Murgia, V., Manti, S., Licari, A., De Filippo, M., Ciprandi, G., & Marseglia, G. L. (2020). Upper Respiratory Tract Infection-Associated Acute Cough and the Urge to Cough: New Insights for Clinical Practice. Pediatric Allergy, Immunology, and Pulmonology, 33(1), 3–11. https://doi.org/10.1089/ped.2019.1135

Obbagy, J. E., English, L. K., Wong, Y. P., Butte, N. F., Dewey, K. G., Fleischer, D. M., Fox, M. K., Greer, F. R., Krebs, N. F., Scanlon, K. S., & Stoody, E. E. (2019). Complementary feeding and food allergy, atopic dermatitis/eczema, asthma, and allergic rhinitis: a systematic review. The American Journal of Clinical Nutrition, 109(Supplement_1), 890S934S. https://doi.org/10.1093/ajcn/nqy220

Rauch, S., Borgato, A., Gruber, E., Leggieri, C., Bock, M., & Seraglio, P. M. E. (2022). Case Report: Prevention of Rhabdomyolysis-Associated Acute Kidney Injury by Extracorporeal Blood Purification With Cytosorb®. Frontiers in Pediatrics, 9, 801807. https://doi.org/10.3389/fped.2021.801807

Talaulikar, V. (2022). Menopause transition: Physiology and symptoms. Best Practice & Research Clinical Obstetrics & Gynaecology, 81. https://doi.org/10.1016/j.bpobgyn.2022.03.003

Tian, Y., & Guo, W. (2020). A Review of the Molecular Pathways Involved in Resistance to BRAF Inhibitors in Patients with Advanced-Stage Melanoma. Medical Science Monitor: International Medical Journal of Experimental and Clinical Research, 26, e920957. https://doi.org/10.12659/MSM.920957

Tuddenham, S., Hamill, M. M., & Ghanem, K. G. (2022). Diagnosis and Treatment of Sexually Transmitted Infections: A Review. JAMA, 327(2), 161–172. https://doi.org/10.1001/jama.2021.23487

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(1A) A 28-year-old woman was admitted to the general internal medicine service with a 3-day history of malaise and cough that progressed to include myalgia, generalized weakness, and dark-colored urine. Three days before admission, she had an abrupt onset of a dry nonproductive cough, malaise, and anorexia that resulted in a prolonged period of fasting. On the second day of the illness, she awoke with diffuse muscle pain and progressive weakness, culminating in an inability to walk. She subsequently noted dark urine and presented it to the emergency department, leading to this admission. She had no recent trauma, exercise, rash, joint pain, or foreign travel. She was taking a multivitamin supplement but no prescription medication.

At the presentation, she was mildly distressed but oriented. Her vital signs were within normal limits, apart from mild tachycardia (heart rate, 104 beats/min). Physical examination revealed grade 3/5 limb muscle strength, although testing was associated with obvious discomfort. Muscle bulk and tone, tendon reflexes, and sensation were normal. Notably, there was no rash, and the cardiorespiratory examination yielded unremarkable findings. Initial chest radiography revealed a left lower lobe infiltrate most consistent with pneumonia. Urinalysis was strongly positive for hemoglobin. Initial laboratory analysis (reference ranges provided parenthetically) revealed that her creatine kinase (CK) level was markedly elevated at 118,342 U/L (38-176 U/L).

What is the most appropriate next step to confirm the diagnosis of rhabdomyolysis in this patient? Provide an explanation for your answer. (50 words and one citation within the past four years).

What is the most likely etiology of this patient’s recurrent rhabdomyolysis?

Rhabdomyolysis is a rapid breakdown of muscle. Detail the pathophysiology behind rhabdomyolysis.

What are the possible complications of rhabdomyolysis?

Which medications may cause rhabdomyolysis?

(1B). Answer both questions:

Both osteoarthritis and rheumatoid arthritis present with several of the same manifestations, such as joint pain and stiffness. How do the two disorders differ? (50 words and one citation within the past four years).

A child born with osteogenesis imperfecta is at risk for pathological fractures. Explain the pathophysiology of this disorder and the associated risk factors. (50 words and one citation within the past four years).

(2A). History

R.S. is a 38-year-old white male who presents to his PCP after his wife noticed a suspicious-looking, dark brown mole on his scalp while giving him a haircut. He was referred to your clinic. He has a history of lipoma over the left ribcage, surgically removed 10 years ago with no recurrence. He reports an episode of major depression with suicidal tendencies 8 years ago, treated successfully with an antidepressant and psychotherapy for 10 weeks with no recurrence.

Review of Systems (ROS)

No changes in vision, smell, or hearing.

No headaches, cough, fever, chills, night sweats, nausea, or vomiting.

No changes in bowel or bladder habits.

No fatigue or weakness.

SKIN

Fair complexion with multiple scattered nevi on the back.

Negative for rashes and other lesions.

Warm to the touch and slightly diaphoretic.

Normal distribution of body hair.

HEENT

7-mm nodule on the scalp above the right ear, dome-shaped, symmetric, dark brown in color, no variations.

PERRLA.

EOMI.

Funduscopic WNL.

Normal sclera.

TMs intact.

Mucous membranes moist.

Throat without lesions, edema, exudates, or erythema.

Poor dentition, several fractured teeth.

Biopsy

An excisional biopsy of the mole showed cells consistent with that of nodular melanoma. Tumor thickness was 3.8 mm. Cervical nodes were enlarged and measured 2.3 and 2.7 cm. A CT scan of the thorax was negative. With the exception of questionable shadows in the liver, the abdominal CT scan was also negative. A CT scan of the brain was clearly positive for 3 lesions.

Laboratory Blood Test Results

Na = 142 meq/L

Cr = 0.6 mg/dL

WBC = 7,200/mm3

AST = 115 IU/L

K = 4.5 meq/L

RBC = 5.3 million/mm3

ALT = 145 IU/L

Hct = 43%

Glu, fasting = 103 mg/dL

Mg = 2.7 mg/dL

HCO3 = 31 meq/L

Cl = 103 meq/L

Bilirubin, total = 1.7 mg/dL

PO4 = 4.4 mg/dL

Ca = 10.3 mg/dL

BUN = 14 mg/dL

Alb = 3.5 g/dL

Alk phos = 278 IU/L

Plt = 239,000/mm3

Hb = 16.3 g/dL

Answer the following Questions.

Why is the lack of clinical manifestations in the ROS above significant? (50 words and one citation within the past four years).

Based on this rather limited information provided under History, ROS, SKIN, and HEENT above, which subtype of melanoma is most likely?

Are any of the laboratory blood test results above abnormal and, if so, what is suggested by the abnormality?

What is the current probability that this patient will be alive in 10 years?

(2B) Answer the following questions:

What is the pathological process in the development and presentation of eczema versus psoriasis? (50 words and one citation within the past four years).

Discuss the pathological process and presentation of atopic dermatitis and its relationship to asthma and allergies. (50 words and one citation within the past four years).

(3A) Answer the following questions:

Review the hypothalamus, pituitary, and ovarian axis, and explain the pathophysiology of PCOS. Explain the role of hormones in the development of this disorder. How does PCOS contribute to infertility? (50 words and one citation within the past four years).

Explain the role of genetics and oncogenes in the development of reproductive cancers. In addition, examine if genetically linked reproductive cancers are only seen in women or are they also in men? (50 words and one citation within the past four years).

(3B) Answer the following questions:

Explain the pathophysiological development of breast cancer. Detail the varying types and oncogenic influences for each type. (50 words and one citation within the past four years).

Menopause comes at different ages for women. What are the changes causing menopause and what are the changes experienced after menopause? (50 words and one citation within the past four years).

(4A) Answer the following questions:

1. Discuss the etiology, presentation, transmission, and management of a sexually transmitted infection. (50 words and one citation within the past four years).

(4B) Answer the questions.

2. Based on the following information, create a list of three differential diagnoses and explain why you would include them on your list. (150 words and two citations within the past four years).

History

C.R., a 34-year-old man, came to your clinic with an episode of chest pain. He has a previous history of occasional stabbing chest pain for 2 years. The current pain had come 4 hours earlier at 8 p.m. and has been persistent since then. It is central in position, with some radiation to both sides of the chest. It is not associated with shortness of breath or palpitations. The pain is relieved by sitting up and leaning forward. Two Tylenol tablets taken earlier at 9 p.m. did not make any difference to the pain.

The previous chest pain had been occasional, lasting a second or two at a time and with no particular precipitating factors. It has usually been on the left side of the chest although the position has varied.

Two weeks previously he had mild to moderate symptoms of COVID-19 which lasted 14 days. This consisted of a sore throat, low-grade fever, loss of taste and smell, and a cough. His wife and two children were ill at the same time with similar symptoms but have been well since then. He has a history of migraines. In the family history, his father had a myocardial infarction at the age of 51 years and was found to have a marginally high cholesterol level. His mother and two sisters, aged 36 and 38 years, are well. After his father’s infarct, he had his lipids measured; the cholesterol was 5.1 mmol/L (desirable range < 5.5 mmol/L). He is a nonsmoker who drinks two 12-packs of beer per week.

Examination

His pulse rate is 75/min, blood pressure is 124/78 mmHg. His temperature is 37.8C. There is nothing abnormal to find in the cardiovascular and respiratory systems. The ECG findings include diffuse concave-upward ST-segment elevation and, occasionally, PR-segment depression.

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