CPS JAN-2022 QUESTION 3

CASE-1:-.MULTIPLE MYELOMA

DIAGNOSTIC INTERVENTION:-

 SERUM PROTEIN ELECTROPHORESIS:

Electrophoresis is a method of separating proteins based on their physical properties. Serum is placed on a specific medium, and a charge is applied. The net charge (positive or negative) and the size and shape of the protein commonly are used in differentiating various serum proteins.

 

Components of Serum Protein Electrophoresis

 

The pattern of serum protein electrophoresis results depends on the fractions of two major types of protein: albumin and globulins. Albumin, the major protein component of serum, is produced by the liver under normal physiologic conditions. Globulins comprise a much smaller fraction of the total serum protein content. The subsets of these proteins and their relative quantity are the primary focus of the interpretation of serum protein electrophoresis.

 

Albumin, the largest peak, lies closest to the positive electrode. The next five components (globulins) are labeled alpha1, alpha2, beta1, beta2, and gamma. The peaks for these components lie toward the negative electrode, with the gamma peak being closest to that electrode. The Figure given be; shows a typical normal pattern for the distribution of proteins as determined by serum protein electrophoresis.

 





 

 

 

 

Characteristic Features of Monoclonal Gammopathies in multiple myeloma.

DISEASE

DISTINCTIVE FEATURES

Multiple myeloma

M protein appears as a narrow spike in the gamma, beta, or alpha2 regions.

 

M-protein level is usually greater than 3 g per dL.

 

Skeletal lesions (e.g., lytic lesions, diffuse osteopenia, vertebral compression fractures) are present in 80 percent of patients.

 

Diagnosis requires 10 to 15 percent plasma cell involvement on bone marrow biopsy.

 

Anemia, pancytopenia, hypercalcemia, and renal disease may be present.

 

Reference :- https://www.aafp.org/afp/2005/0101/p105.html#afp20050101p105-b6

 The sensitivity of SPEP was 71% and the specificity was 83%. 

THERAPEUTIC INTERVENTION:-

Treatment depends upon the stage of multiple myeloma  

It could be a combination of the below mentioned

Chemotherapy :- ex: Cyclophosphamide (Cytoxan), Vincristine (Oncovin) etc. These drugs treat the multiple myeloma.

Corticosteroids. These drugs can help other treatments work better by relieving the side effects. Ex: dexamethasone or prednisone.

Immunomodulatory drugs:- ex: Pomalidomide, Thalidomide

Monoclonal antibodies: ex: Elotuzumab, Isatuximab

 

 

 

 

CASE-2:-NEUROBEHCET’S DISEASE

DIAGNOSTIC INTERVENTION:-

There is no specific laboratory, radiological or histological findings to help in diagnosing BD

 The international Study Group for BD criteria  for diagnosis requires satisfaction of two of the following four criteria :

Recurrent painful genital ulcers that heal with scarring,

Ophthalmic lesions such as anterior or posterior uveitis, hypopyon or retinal vasculitis,

Skin lesions such as erythema nodosum

Positive Pathergy skin test.

Reference :- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4584512/#:~:text=The%20international%20Study%20Group%20for,posterior%20uveitis%2C%20hypopyon%20or%20retinal 

 

 

CASE 3:-IATROGENIC CUSHING’S SYNDROME

DIAGNOSTIC INTERVENTION :-

ACTH (CORTROSYN) STIMULATION TEST

What is  ACTH (Cortrosyn) Stimulation Test?

ACTH (Cortrosyn) stimulation test measures the ability of the adrenal cortex to respond to ACTH by producing cortisol appropriately. ACTH is a hormone produced in the pituitary gland that stimulates the adrenal glands.

 

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What abnormal results mean:
This test is helpful in determining if you have:

Addison's disease (decreased adrenal output)

Low pituitary function

Pituitary tumors

Acute adrenal crisis

 

 

ACTH stimulation testing presented a 100% sensitivity, a 67.3% specificity, and a 68.6% accuracy

(source:- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6616948/#:~:text=We%20found%20that%201%20%C2%B5g,high%20rate%20of%20FP%20results. )

 

THERAPEUTIC INTERVENTION

 The treatment for exogenous Cushing syndrome is gradual withdrawal of the causative drug, with the aim of discontinuing the causative drug if possible. An individual with HPA-axis suppression cannot increase steroid production appropriately during a medical illness or other stress and should receive stress-dose steroids to avoid adrenal crisis.

 

Reference :- https://www.uclahealth.org/endocrine-center/acth-stimulation-test 

 

ALTERNATIVE DIAGNOSTIC INTERVENTION :-

LOW DOSE DEXAMETHASONE SUPPRESS TEST (LDDST)

 

 

 

CASE 4:- OBSTRUCTIVE SLEEP APNEA AND TREATMENT ADVANCES

DIAGNOSTIC INTERVENTION :-

POLYSOMNOGRAPHY

Overnight polysomnography is the gold-standard DIAGNOSTIC test for OSA. Patients who are diagnosed with OSA and choose continuous positive airway pressure (CPAP) therapy are then brought back for follow up study, during which the pressure of CPAP device is titrated. Alternatively those two studies can be done in selected patients over one night, followed by a “split-night protocol”. The two parts of the split night study complement each other; diagnosis of OSA is made during the first part, followed by titration of CPAP during the second half of the study. A negative polysomnogram does not exclude diagnosis of OSA particularly in high-risk patients. In such patients repeating the polysomnogram should be considered.

 

SOURCE: https://healthysleep.med.harvard.edu/sleep-apnea/diagnosing-osa/testing#:~:text=Polysomnography%20is%20usually%20performed%20in,%22gold%20standard%22%20for%20diagnosis. 

THERAPEUTIC INTERVENTION:-

Treatments for sleep apnea include:

lifestyle changes, such as switching sleep positions, weight loss, and allergy treatments

surgery

continuous positive airway pressure (CPAP) appliance

oral devices, such as a MAD ( mandibular advancement device )

 

 

How does a MAD work?

A MAD is an alternative treatment method that people can try. It works by temporarily moving the jaw and tongue forward, which reduces throat constriction and prevents sleep apnea and snoring. Moving the tongue forward increases airway space

 

 

Reference:- https://www.medicalnewstoday.com/articles/mandibular-advancement-device#how-it-works 

 

CASE-5 :- NEURODEGENERATIVE DISORDERS

DIAGNOSTIC INTERVENTION:-

A DIAGNOSTIC work-up would likely include the following tests:

Physical and neurological exam

· Reflexes

· Muscle tone and strength

· Ability to get up from a chair and walk across the room

· Sense of sight and hearing

· Coordination

· Balance

Mental status and neuropsychological testing

Brain imaging                                                                                                                                                                           

Imaging of brain structures include the following:

Magnetic resonance imaging (MRI). MRI uses radio waves and a strong magnetic field to produce detailed images of the brain. While they may show brain shrinkage of brain regions associated with Alzheimer's disease, MRI scans also rule out other conditions. An MRI is generally preferred to a CT scan for the evaluation of dementia.

Computerized tomography (CT). A CT scan, a specialized X-ray technology, produces cross-sectional images (slices) of your brain. It's usually used to rule out tumors, strokes and head injuries.

 

 

Future DIAGNOSTIC tests

Researchers are working to develop tests that can measure biological signs of disease processes in the brain.

These tests, including blood tests, may improve the accuracy of diagnoses and enable earlier diagnosis before the onset of symptoms. A blood test for Plasma Aβ is currently available and recently received certification in the U.S. by the Centers for Medicare & Medicaid Services to allow distribution on the market.

 

 

 

THERAPEUTIC INTERVENTION :-

Donepezil is used to treat dementia related to Alzheimer's disease. It does not cure Alzheimer's disease, but it may improve memory, awareness, and the ability to function. 

Donepezil selectively and reversibly inhibits the acetylcholinesterase enzyme, which normally breaks down acetylcholine.

 

Reference:- https://www.webmd.com/drugs/2/drug-14334-9218/donepezil-oral/donepezil-oral/details#:~:text=Donepezil%20is%20used%20to%20treat,(neurotransmitters)%20in%20the%20brain. 

 

 

CASE 6:- MYXOEDEMA COMA

DIAGNOSTIC INTERVENTION :

Every patient with myxedema has hypothyroidism, but not every hypothyroid patient has myxedema. It often is possible to diagnose myxedema on clinical grounds alone. Characteristic symptoms are weakness, cold intolerance, mental and physical slowness, dry skin, typical facies, and hoarse voice. Results of the total serum thyroxine and free thyroxine index tests usually will confirm the diagnosis.

 

THERAPEUTIC INTERVENTION:-

L-thyroxine is the treatment of choice for myxedema, but it must be given to elderly patients with extreme caution. The transition from the hypothyroid to the euthyroid state brings about changes that put an added burden on the heart. The patient's clinical status and results of thyroid function tests determine the proper maintenance dose. Myxedema coma is rare but often fatal. It occurs most often in elderly women and may be mistaken for one of the chronic debilitating diseases common to this age group. Primary treatment is prompt administration of adequate doses of thyroid hormone--either l-throxine given intravenously of L-triiodothyronine given by nasogastric tube. It also is essential to identify and treat the condition precipitating the coma.

 

REFERENCE:- https://pubmed.ncbi.nlm.nih.gov/624451/ 

 

 

 

 

CASE 7:- METABOLIC ACIDOSIS

DIAGNOSTIC INTERVENTION :-

Assessment of ABG report..

ABGs can be interpreted using a stepped approach:

Step 1 — check the pH

The pH should be assessed first. A pH of less than 7.35 indicates acidosis and a pH greater than 7.45 indicates alkalosis.

Step 2 — check the HCO3– and PaCO2

Having determined if the patient is acidotic or alkalotic, check the HCO3– and the PaCO2 to classify the results as follows:

Metabolic acidosis: patients who are acidotic and have a HCO3– <22 (base excess <2);

Respiratory acidosis: patients who are acidotic with a PaCO2 >6;

Metabolic alkalosis: patients who are alkalotic with a HCO3– >28 (base excess >+2);

Respiratory alkalosis: patients who are alkalotic with a PaCO2 <4.7.

It is possible for patients to have a mixed respiratory and metabolic alkalosis or acidosis. This occurs when primary respiratory and primary metabolic disturbances exist simultaneously. 

 

 

THERAPEUTIC INTERVENTION:-

Acidosis treatment might include:

oral or intravenous sodium bicarbonate to raise blood pH.

medications to dilate your airways.

continuous positive airway pressure (CPAP) device to facilitate breathing.

sodium citrate to treat kidney failure.

insulin and intravenous fluids to treat ketoacidosis.

 

REFERENCE:- https://www.healthline.com/health/metabolic-acidosis-treatment 

 

CASE 8:- CHOREA

DIAGNOSTIC INTERVENTION:-

Tests include:

Blood test.

Genetic testing.

Imaging tests such as magnetic resonance imaging (MRI) and computed tomography (CT) scan.

 

GENE TESTING FOR Huntington's disease

The discovery of the HD gene led to a genetic test to make or confirm the diagnosis of Huntington's disease. Using a blood sample, the genetic test analyzes DNA for the HD mutation by counting the number of CAG repeats in the huntingtin gene. Individuals who do not have HD usually have 28 or fewer repeats. Individuals with HD usually have 40 or more repeats.

 

REFERENCE- https://www.genome.gov/Genetic-Disorders/Huntingtons-Disease#:~:text=The%20discovery%20of%20the%20HD,have%2028%20or%20fewer%20repeats. 

 

THERAPEUTIC INTERVENTION :-

Tetrabenazine (TBZ) is a dopamine-depleting agent. It is the only US Food and Drug Administration (FDA)-approved drug for the treatment of chorea coupled with Huntington's disease (HD) and other hyperkinetic disorders.

 

REFERENCE:- https://www.karger.com/Article/Fulltext/449184#:~:text=Tetrabenazine%20(TBZ)%20is%20a%20dopamine,other%20hyperkinetic%20disorders%20%5B1%5D. 

 

 

 

 

CASE 9:- WEIL’S DISEASE

DIAGNOSTIC INTERVENTION:-

Microscopic agglutination test

The microscopic agglutination test (MAT) is the gold standard for sero-diagnosis of leptospirosis because of its unsurpassed DIAGNOSTIC specificity. It uses panels of live leptospires, ideally recent isolates, representing the circulating serovars from the area where the patient became infected. A dilution series of the patient's serum is mixed with a suspension of live leptospires in microtiter plates. After incubating for about 2 hr at 30°C, results are read under the dark-field microscope. The titer is the last dilution in which ≥ 50% of the leptospires have remained agglutinated. Seroconversion or ≥ 4-fold titer rise in paired sera is consistent with current leptospirosis. The significance of a titer in a single sample depends on the frequency of residual titers due to past infections and cross-reacting other diseases in the population. 

 

THERAPEUTIC INTERVENTION :-

The patient devloped MODS secondary to leptospirosis?.

The management of MODS requires a multidisciplinary approach that includes antibiotics for sepsis control, microcirculatory and respiratory support for reperfusion, organ-targeted drugs, and the correction of coagulation abnormalities, acid-base imbalance; metabolic issues, and electrolyte imbalance.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

  


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KSHITIJSHARMA CPS JAN-2022