CBL-1

A 30-year old woman was brought to the hospital in a semi-coma. She had been treated for
diabetes over the past 11 years. On examination, her mucous membranes were dry, eyeballs
sunken, and skin inelastic and wrinkled. The patient exhibited Kussmaul respiration and the
breath had an unusual odour. Blood pressure was low and pulse fast. A blood sample was
taken; rapid semi quantitative tests indicated presence of high levels of glucose and ketone
bodies. More extensive analysis of the blood sample showed the following values.

Random plasma glucose is 550 mg/dl

pH 7.0

Osmolality 385 mOsmol/kg

HbAlc 12%

Questions:

1. What is the type of diabetes seen in this woman?

2. Explain abnormal features on clinical examination in this patient in biochemical
terms.
3. What is the reference range of random plasma glucose? What is the mechanism for
the high plasma glucose and ketone bodies in this woman?
4. What is the normal osmolality of blood and comment on the osmolality of blood in
this woman?
5. What is the reference range for the pH of blood? Comment on the value got. What is
the reason for this value?
6. What is the reason for coma in this woman despite high plasma glucose?
7. What is glycated haemoglobin and what is its role in the management of diabetes?
8. What is the popular tale of the discovery of the hormonal basis of this disease?
9. What was the controversy over the Nobel Prize awarded for studies on this disease?
10. Is a GTT indicated in this patient? Explain your reason.

Prepare ppt to explain.

 CBL-2
Patient: A 20-year-old woman.

Chief Complaint: Bilateral paresthesia of the lower extremities and lower limb weakness.

History of Present Illness: The patient had experienced bilateral paresthesia of the lower
extremities for approximately 3 weeks before admission to the hospital. Her numbness
progressively ascended to the trunk and she then developed difficulty walking, followed by
numbness in the hands and associated back pain without bladder or bowel incontinence. The
patient reported having received an influenza vaccination approximately 1 week before the
onset of symptoms

Physical Examination Findings: Bilateral hip flexor weakness, a thoracic sensory-level

deficit (sensitivity to sharp touch was reduced below T10), and reduced proprioception
distally in the bilateral lower extremities.

Initial Working Diagnosis: The clinical picture suggested an autoimmune etiology based on
the patient’s previous history of vaccine exposure (influenza vaccine); thus, treatment was
started with intravenous immunoglobulin (IVIG) and intravenous methylprednisolone for 5
days.

Principal Laboratory Findings:

White blood cells 4.1 × 109 /L (4.5-11.0 × 109 /L)

Platelets 308 × 109 /L (150-400 × 109 /L )

Red blood cells 3.68 × 1012 /L (4-5.2 × 1012/L )

Hemoglobin 12.2 g/dL (12-16 g/dL )

Hematocrit 36.7% (36%-46% )

Mean cell volume 102.7 fL (78-100 fL)

Red cell distribution width 17.2% (11%-14%)

B12 -126 pg/mL (243-894 pg/mL )

Folate 12.2 ng/mL( 4.4-9.9 ng/mL)

Methylmalonic acid 5.0 µmol/L (0-0.40 µmol/L )

Blood urea nitrogen 11 mg/dL (6-20 mg/dL )

Creatinine 0.62 mg/dL (0.4-0.9 mg/dL)

Autoimmune Parietal cell antibodies -positive

Intrinsic factor blocking antibodies -positive

Additional Diagnostic Tests: Spinal magnetic resonance imaging (MRI) findings were
consistent with demyelination of the dorsal regions of the spinal column and demyelination
around the central canal (Image 1). Brain MRI results were negative. Results of a nerve
conduction study showed changes consistent with demyelinating polyneuropathy

1. What does the blood report point towards? Explain each parameter in detail.

2. What is the meaning of the term pernicious anemia in this patient?

3. What are the causes of vitamin B12 deficiency?

4. What are its coenzyme forms and describe the catalytic reactions that this vitamin takes

part in?

5. What is folate trap?

6. What is the normal reference range of this vitamin? What is the RDA of this vitamin?
 CBL-3
A 48-year-old male presents to the clinic because of concerns about heart disease. He reports
that his father died from a heart attack at age 46, and his older brother has also had a heart
attack at age 46 but survived and is on medications for elevated cholesterol. The patient
reports chest pain occasionally with ambulation around his house and is not able to climb
stairs without significant chest pain and shortness of breath. The physical exam is normal,
and the physician orders an electrocardiogram (ECG), exercise stress test, and blood tests.
The patient’s cholesterol result was 350 mg/dl. The physician prescribes medication, which
he states is directed at the rate limiting step of cholesterol biosynthesis.

1. Explain the cause for the symptoms in the patient.

2. What does the blood test reveal?
3. What is the rate limiting step in the metabolism of cholesterol? What class of drugs
will be used in the treatment?
4. What are the components of lipid profile and how do you prepare a patient for it?
What are the references ranges for each of them?
5. What are the apoproteins associated with the lipoproteins?
6. Classify the primary hyperlipoproteinemias.
7. What are the secondary causes of hypercholesterolemia?
8. Describe the role of LDL in atherosclerosis.
9. What are the changes in lifestyle and diet that you recommend to this patient and give
your reasons for the same?
 CBL-4
J.L. is a 15-month-old white boy who fell off his bed and refused to walk afterward. He had
been walking for about a month before this episode. His dietary history showed that he was
breastfed until 6 months of age and then was placed on a mostly liquid diet consisting of
water, juice, and some milk. Solids in his diet consisted of some baby food without dairy
products. No supplemental vitamins were given. Physical examination was significant for
underweight status length age of 9 months (his length was 70.6 cm), a prominent forehead,
and swelling at the wrists. Radiographs of his leg revealed a distal left femur fracture, and
wrist radiographs showed osteopenia with metaphyseal flaring.

Laboratory investigations:

a serum calcium level of 8.2 mg/dL

a serum phosphorus level of 3.4 mg/dL

elevated alkaline phosphatase and parathyroid hormone (PTH) levels.

The serum 25-hydroxyvitamin D (25[OH]D) level was 11 ng/mL

1. Give the reference ranges for each of the investigations and comment on the results of
the lab. investigations.
2. Explain the biochemical pathway to synthesize calcitriol.
3. What are the sources and RDA of this vitamin?
4. What is the cause of elevated alkaline phosphatase and parathormone levels?
5. What factors led the child to the development of fracture? Explain the biochemical
basis for the fracture.
6. What supplements have to be given? What precautions will you suggest to the parent
whose child is on oral supplements for the vitamin and why should the precautions be
given?