Case connections

Case connections are short scenarios or puzzles based on the information from the current unit
of study.
Choose two of the following three case
connection problems and provide detailed written solutions. This assignment is submitted
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  1. You will need to describe why your chosen answer is correct while also discussing why
    the other answers are incorrect.
  2. References in AMA format are also required.
  3. Do not include the questions provided as part of your submission.
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    organization of the overall assignment.
    Submit your written assignment via the digital drop box.
    Case 1:
    Upon presentation: An 18-month-old female arrives by ambulance at the emergency department. The
    paramedics report that there was no known history of any recent trauma, and no known fever,
    vomiting, or other unusual behavior. There were no known ingestions or medications in the household.
    There was no evidence of trauma.
    Interview and History: At 9 PM the previous night, Ella was described by her mother as appearing more
    quiet than usual. They had spent the day traveling from the grandmother’s house and Ella had been
    carsick so had not eaten very much during the day. When they got home, Ella had some water and went
    to bed. Ella slept longer than usual and was found unresponsive by her mother at 9 AM. At this time her
    mother called 911.
    Follow-up tests:
    1) Blood glucose: 23 mg/dL (normal range 90 – 125 mg/dL)
    2) Repeat blood glucose: 50 mg/dL following administration of glucagon
    3) Urinary acids: Markedly elevated levels of glutaric, ethylmalonic, and dicarboxylic acids; ketones
    absent
    4) Serum free fatty acids: 0.84mmol/L (normal range: 0.00-0.72 mmol/L)
    UNE Online _ Case connections
    Treatment:
    She was transferred to the pediatric intensive care unit and remained comatose for 16 hours. Blood
    glucose levels remained stable with a continuous infusion of dextrose. Inpatient treatment consisted
    primarily of glucose supplementation and supportive care.
    Questions:
    In this individual, at the time of presentation, what is the relative ratios of the following hormones:
    insulin epinephrine
    glucagon cortisol
    Based on the data presented above. This individual most likely has a primary deficiency in which of the
    following pathways. Please describe why you choose a specific pathway and why you DID NOT choose
    other pathways.
    a. Glycogenolysis
    b. Gluconeogenesis
    c. Lipolysis
    d. Glycogen synthesis
    e. Glycolysis
    f. Ketogenesis
    g. β-oxidation
    h. Protein catabolism
    Based on your choice above, would the use of carnitine supplementation be of any benefit to your
    patient? (Review the role of carnitine!)
    Case 2:
    A 53-year-old male with past medical history of obesity (BMI of 38 kg/m
    2
    ) and borderline diabetes
    presents to you with abnormal liver enzymes (ALT/AST) discovered 6 months ago. His family history is
    significant for liver cirrhosis. On physical examination you notice mild hepatomegaly (enlarged liver).
    A panel of lab tests revealed the following: aspartate aminotransferase (AST) 106 (normal range 10 – 40
    U/L), alanine aminotransferase (ALT) 118 (normal range 7 – 56 U/L), with normal bilirubin (generated
    from the breakdown of hemoglobin). He had a liver ultrasonography that showed diffuse increase in
    echogenicity and vascular blurring consistent with fatty infiltration. You suspect nonalcoholic fatty liver
    disease (NAFLD).
    Under normal conditions, describe the metabolism and maturation of VLDL particles.
    Describe how NAFLD could manifest and what potential processes could be impaired in order for this
    disease process to occur (consider both enzymatic and hormonal impairments).
    UNE Online _ Case connections
    Case 3:
    A 20-year old, female presents to the dermatologist with complaints of multiple, small to large (2 mm to
    3 cm) soft, asymptomatic yellow colored nodular lesions all over the body since the age of 2 years. She
    was subsequently referred for biochemical investigations, where an altered lipid profile was noticed.
    A detailed history from the parents revealed that the patient developed the swellings since the age of
    2 years, which gradually increased to the present size. At the age of 3 years, patient was treated by a
    local doctor but the symptoms did not subside. There is no history of chest pain, breathlessness,
    hypertension, diabetes mellitus, or any other chronic illness.
    Family history: Maternal side shows history of sudden deaths at a young age (36–44 years) (Mother’s
    elder brother and all his 3 sons have died at an early age due to possible myocardial infarction).
    Lipid profile of the patient:
    Total cholesterol (mg/dl) 580
    Triglycerides (mg/dl) 134
    LDL (mg/dl) 460
    HDL (mg/dl) 93
    VLDL (mg/dl) 27
    LDL/HDL ratio 4.94
    Please describe a potential underlying mechanism for the elevated cholesterol levels found in this
    individual.
    Triglycerides are within normal values in this individual. Describe how triglyceride levels would be
    normal but cholesterol levels could be elevated in this individual.
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