Bsc nursing 2nd year PPG ( Pharmacology, Pathology & Genetics) previous year (2019) question paper with answer.
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Bsc nursing 2nd year
Pharmacology, pathology, Genetics
August-2019
Answer - No. - 1(a)
Difference between Cholinergic & Anticholenergic.
Answer -No.- 1(b)
Chemotherapy Drugs :-
Chemotherapy is the use of chemicals as a systemic therapy for cancer. It is a therapeutic regimen to cure certain cancer, control cancer and giving palliative relief of symptoms. It helps to improve the quality of life. They have direct effect on cells.
Classifications of chemotherapeutic drugs:
(1.) Alkylating agents - Cyclophosphamide.
(2.) Nitrosineas - streptozocin.
(3.) Platinum drugs - cisplatin.
(4.) Antimetabolities - Fluorouracil.
(5.) Antihumor inhibitors - Bleomycin.
(6.) Mitotic inhibitors - Paclitaxel.
(7.) Cortico steroids - Prednisone, hydrocortisone.
(8.) Topoisomerase inhibitors - Etoposide.
(9.) Hormone Therapy-Tamoxifen.
(10.) Miscellaneous- procarbozine.
Answer-No.-1(c)
Role of nurse in administering chemotherapy drugs :-
(1.) Prevention of infection:
(a.) To check vital signs.
(b.) Isolate the patient.
(c.) provide and encourage to practice personel hygiene.
(d.) Well balanced diet.
(e.) Culture and sensitivity test.
(f.) Observation of head tc toe appearance.
(2.) Prevent bleeding:
(a.) To access bleeding time, clotting time and platelet count.
(b.) Access for bleeding area all over the body from any orifice.
(c.) Measures should be taken to minimize bleeding such as during injections, catheterization, etc.
(3.) Improve nutrition:
(a.) To avoid salt, alcohol, smoking, etc.
(b.) Likes and dislikes of patient should be considered.
(c.) Food should be rich in calories, high protein, Fibres, vitamin C, vitamins increased.
(d.) Food should be stimulating and attractive.
(e.) To provide oral hygiene.
(f.) Antiemetics should be provided.
(4.) Enhance tissue integrity:
(a.) Monitor hair loss.
(b.) Cut down long hair before treatment.
(c.) Lubricate scalp with vitamin A and D.
(d.) Encourage the patient to wear cap-or scarf.
(5.) Promote comfort:
(a.) Activities plan after meals.
(b.) Rest between activities planning.
(6.) Improve body image:
(a.) Positive attitude.
(b.) To ventilate the feelings and fears of patient.
(c.) Psychological support.
Other measures include:
(1.) Assessing fluid and electrolyte status.
(2.) Modifying risks for infection and bleeding.
(3.) Administering chemotherapy.
(4.) Protecting caregivers.
Or
Answer-No.-1(a)
Principles of drug administration:
Drug administration involves administering the drug into body through various routes,
While administering the drug,
one must follow the following principles:
(1.) Follow the "forteen rights" consistently.
(2.) Learn essential information about each drug to be given
(e.g. indications for use, contraindications, therapeutic effects, adverse effects and any specific instructions about administration).
(3.) Interpret the doctor's order accurately (i.e. drug name, dose, frequency of administration).
Question the Doctor, if any information is unclear or if the drug seems inappropriate for the client's condition.
(4.) Read labels of drug containers for the drug name and concentration (usually in mg per tablet, capsule or milliliter of solution).
Many medications are available in different dosage forms and concentrations: it is extremely important that the correct ones be used.
Minimize the use of abbreviations for drug names, doses, routes of administration and times of administration.
This promotes safer administration and reduces errors.
When abbreviations are used, by prescribers or others, interpret them accurately or question the writers about intended meanings.
(5.) Calculate doses accurately. This is especially important when calculating children's dosages.
(6.) Measure doses accurately. Ask a colleague to double check measurements of insulin and heparin, unusual doses (i.e. large or small) and any drugs to be given intravenously.
(7.) Use the correct procedures and techniques for all routes of administration.
For example, use appropriate anatomic landmarks to identify sites for intramuscular (IM) injections, follow the manufacturers' instructions for preparation and administration of intravenous (IV) medications and use sterile materials and techniques for injectable and eye medications.
(8.) Seek information about the client's medical diagnoses and condition in relation to drug administration
(e.g. ability to swallow oral medications; allergies or contraindications to ordered drugs; new signs or symptoms that may indicate adverse effects of administered drugs: heart, liver or kidney disorders that may interfere with the client's abil- ity to eliminate drugs).
(9.) Verify the identity of all clients before administering medications; check identification bands on clients who have them
(e.g. in hospitals or long- m facilities).
(10.) Omit or delay doses as indicated by the client's conditions ; report or record omissions appropriately.
(11.) Be especially vigilant when giving medications to children because there is a high risk of medication errors.
Answer -No.-1(b)
Drugs used in deaddiction are:
(1.) Naltrexone drug:
This medication is also used to treat alcohol abuse. It can help people drink less alcohol or stop drinking altogether. It also decreases the desire to drink alcohol when used with a treatment program that includes counseling, support and lifestyle changes.
Side effects: Nausea, headache, dizziness, anxiety, tiredness and trouble sleeping may occur.
In a small number of people, mild opiate withdrawal symptoms may occur, including abdominal cramps, restlessness, bone/joint pain, muscle aches and runny nose.
(2.) Disulfiram: It is used to treat alcohol abuse.
Side effects: Drowsiness, tiredness, headache, acne and metallic/garlic-like taste in the mouth.
(3.) Levomethadyl (LAAM): It is an opioid that suppress opioid withdrawal.
(4.) Buprenorphine: Opioid agonist for opioid dependence.
Answer-No.-1(c)
Role of Nurse in Administering Antiarrhythmic Drugs
(1.) Observe for dysrhythmia and monitor for CHF.
(2.) Monitor for QRS more that Q 12 and widening of QT interval.
(3.) Implement safety measures and check for allergic to local anesthetics.
(4.) Monitor ECG pattern, k + levels and signs of CHF.
(5.) Do not withdraw abruptly, can cause angina. Withhold if heart rate is < than 60/min use caution in patients with heart block.
(6.) Monitor, pulse, B.P. and ECG changes. Implement safety measures.
(7.) Teach patient to rise slowly. Give l/V slowly with ECG monitoring. Assess B.P. and signs of CHF.
Answer - No. -2(a)
Pharmacology of adrenaline drugs :-
Adrenaline is clear, colorless, sterile injection used to treat life threatening allergic reactions caused by insect bites, food and medications.
Action and dosage of adrenaline: The peripheral actions of adrenaline in most tissues have been clearly differentiated into those mediated by a and b receptors depending on the predominant receptor type present in given tissue.
(1.) Heart: Increase heart rate by increasing the slope of slow diastolic de- polarization of cells in the SA node.
(2.) Blood vessels: Both vasoconstriction and vasodilators can occur depending on the drug, its dose and vascular bed.
(3.) B.P cause rise in systolic and fall in diastolic B.P. Peripheral resistance decreases because vascular b2 receptor are more sensitive than a receptors, Mean BP generally rises. Pulse pressure is increased.
(4.) Adrenaline works by relaxing the muscles in airway and tightening the blood vessels.
Dosage:
(I) For systemic action: 0.2-0.5 mg S.C. in action lasts ½ to 2 hrs.
Adrenaline 1 mg/ml/inj. ADRENA 4 mg/2m/inj.
(ii) As local vasococonstrictors: In 200,000 to 1 in 100,000 added to lidocaine.
In xylocaine with adrenaline: lidocaine 21.3 mg and adrenaline 0.005 mg/ml/inj, 30 ml vial.
Answer-No.-2(b)
Role of nurse in administering opioids :-Opioids are the compounds which play important role in managing severe pain.
They bind to opiate receptors in the CNS, where they act as agonist of endogenously occurring opioids peptides.
(1.) Pain medication should be matched to the individual patient's needs. This begins with a detailed history, including a list of currently prescribed and past medications.
Ask about a history of substance use or substance use disorders in the patient and the patient's family. If opioids are being considered, assess the patient's psychiatric status.
(2.) Check vital signs especially respiratory rate.
(3.) If morphine is to be used for more than 2-3 days, assess bowel movements and provide liquids and high fiber diet.
(4.) Check doctor prescription for opioid dose. Verbal and written instructions after the procedure need to contain name of drug, dosage, adverse effects, how long the drug should be taken and how to store it.
(5.) Follow principles of drug administration.
(6.) Check opioid dependency level of client.
(7.) Nurses should educate patients about the role of opioids in their care.
Morphine should be discontinued gradually to prevent withdrawal symptoms after long use.
Answer-No.-2(c)
Role of Nurse in Administering Penicillin Drug: Penicillin antibiotics were among the first drugs to be effective against bacterial infections caused by staphylococci and streptococci.
(1.) Obtain culture and sensitivity before beginning drug therapy to identify. if correct treatment has been initiated.
(2.) Before using penicillin , enquire from patient whether he is allergic to any drugs (especially cephalosporins such as Ceclor, Ceftin, Duricef, Keflex and others) or if he has history of asthma, kidney disease, a bleeding or blood clotting disorder, a history of diarrhea caused by taking antibiotics; or a history of any type of allergy.
(3.) Assess patient for signs and symptoms of infection including characteristics of wounds, sputum, urine, stool, WBC >10,000/mm, earache, fever; obtain baseline information and information during treatment.
(4.) Assess for allergic reactions: Rash, urticaria, pruritus, chills, fever, joint pain; angioedema may occur a few days after therapy begins; epinephrine, resuscitation equipment should be available for anaphylactic reaction.
(5.) Monitor urine output; if decreasing, notify doctor (may indicate nephro- toxicity); also check for increased BUN, creatinine.
(6.) Monitor blood studies: CBC, Hct, bilirubin, LDH, alkaline phosphatase, AST, ALT, Coombs' test monthly if patient is on long-term therapy.
(7.) Monitor electrolytes: Potassium, sodium, chloride monthly if patient is on long-term therapy.
(8.) Assess bowel pattern daily; if severe diarrhea occurs, drug should be discontinued; may indicate pseudomembranous colitis.
(9.) Monitor for bleeding: Ecchymosis, bleeding gums, hematuria, daily if on 8. 9. long-term therapy.
(10.) Assess for overgrowth of infection: Perineal itching, fever, malaise, redness, pain, swelling, drainage, rash, diarrhea, change in cough, sputum.
(11.) Administer penicillin in muscle deeply after skin sensitivity test.
(12.) Shake medication before administering. Teach patient to report sore throat, bruising, bleeding, joint pain; may indicate blood dyscrasias (rare).
(13.) Follow principles of drug administration.
Answer-No.-3 (a)
Antihistaminics: Antihistaminics are the most widely used drugs for allergic rhinitis and are often chosen for initial therapy.
They help to relieve rhinorrhoea, sneezing, nasal pruritus and conjunctivitis but do not effect nasal congestion.
Antihistaminics are usually effective in seasonal allergic rhinitis when sneezing and rhinorrhoea predominate and edema and congestion are minimal.
Topical and ophthalmic antihistaminics may immunize systemic effects. They are used as adjunctive therapy in anaphylactic reactions.
Some are used to treat motion sickness (dimenhydrinate), insomnia (diphenhydramine).
Diphenylhy dramine is used to treat Parkinson-like reactions.
They block the effects of histamine at the H1 receptor. They don't block the histamine release. Thay also have anticholinergic properties.
Adverse Effects: (1.) Drowsiness,constipation,dryness of mouth,dry eyes,blurred vision.
(2.) Contraindications.
(3.) Hypersensitivity,
(4.) Narrow angle glaucoma.
(5.) Never use for premature or new born infants
Nurse's Role:
(1.) Assess the allergy symptoms before and periodically throughout therepy.
(2.) Check the pulse and blood pressure before initiating and throughout Iv therapy.
(3.) Assess lung sounds.
(4.) Encourage client to take plenty of fluid (1.5-2 L).
(5.) Be cautious in client with pyloric obstruction,prostatic hypertrophy, hyperthyroidism, cardiovascular disorder or severe liver diseases.
(6.) Inform the client that:
(a.) Drowsiness may occur.so he should avoid driving and activities require alertness.
(b.) Avoid using alcohol and CNS depressants.
(c.) In order to relieve dryness of mouth, take water frequently.
(d.) They are most effective if taken before the symptoms, and should be taken regularly by sensitive patients during the allergen period even when symptoms are absent.
(e.) Non sedating antihistaminics like cetirizine and loratadine, are to be preferred when sedations needs to be avoided.
(f.) Contact the doctor if the symptom persist.
Answer-No.-3 (b)
Bronchoconstrictor Drug: Bronchoconstriction is narrowing of bronchioles. It is one of the hallmarks of asthma.
Stimulation of Beta2 (B2) receptors in bronchial smooth muscle results in relaxation of bronchial smooth muscle. This results in a larger diameter airway, resulting in lower resistance to airflow in and out of the lungs.
These are agents causing the narrowing of the lumen of a bronchus or bronchiole.
For example, methacholine is used for diagnosing bronchial hyper-activity, using the bronchial challenge test.
Methacholine acts as a non-selective muscarinic receptor agonist to stimulate the parasympathetic nervous system.
It is most commonly used for diagnosing bronchial hyper- reactivity, using the bronchial challenge test.
Through this test, the drug causes bronchoconstriction and people with pre-existing airway hyper-activity, such as asthmatics, will react to lower doses of drug. Cholinergic drugs also causes bronchoconstriction.
Answer-No.- 3 (c)
Unani:-
Unani system of medicines originated in Greece and is based on the teachings of Hippocrates and Gallen and it developed into an elaborate Medical System by Arabs, like Rhazes, Avicenna, AI Zahravi, Ibne-Nafis and others.
Unani Medicines got enriched by imbibing what was best in the contem- porary systems of traditional medicines in Egypt, Syria, Iraq, Persia, India, China and other Middle East countries,
In India, Unani System of Medicine was introduced by Arabs and soon it took firm roots. During 13th and 17th century A.D. Unani Medicine had its hey-day in India.
Unani system has shown remarkable results in curing the diseases like Arthritis, Leucoderma, Jaundice, Liver disorders. Nervous system disorders, Bronchial Asthma, and several other acute and chronic diseases where other systems have not been able to give desired response.
Now the system has crossed national boundaries and is popular among the masses globally.
Unani treatment is based on its natural and remarkable diagnosis methods and is affordable.
It is mainly dependent on the Temperament) of the patient, hereditary condition and effects, different complaints, signs and symptoms of the boby, external observation, examination of the PULSE , urine and stool, etc.
Unique and special treatment methods like Dieto therapy, Climatic therapy (llaj-bil-Hawa), Regimental therapy (llaj-bit-Tadbir), make it a differ- ent and remarkable and popular system.
Regimental therapy includes venesection, cupping, diaphoresis, diuresis, Turkish bath, massage, cauterization, purging, emesis, exercises, leeching, etc.
Dieto therapy (ilaj-bil-Ghiza) aims at treating certain ailments by administration of specific diets or by regulating the quality of food.
Pharmacotherapy is mainly dependent upon local available herbal drugs which make the system indigenous. Similarly, surgery has also been in use in this system for quite long.
In India, the concept of research in Unani System of Medicine was originally perceived by Masih-ul-Mulk Hakim Ajmal Khan in the 1920s. A versatile genious of his time, Hakim Ajmal Khan spotted Dr. Salimuzzaman Siddiqui-a chemist for undertaking chemical studies on some important medicinal plants used in Unani Medicine.
Dr. Siddiqui undertook the task visualized by Msih-ul-Mulk and his discovery of medicinal properties of a plant, commonly known as Asrol (Pagal Booti), led to sustained research that established the unique efficacy of this plant known all over the world as (Rauwolfia serpentina), in neurovascular and nervous disorders, such as hyper- tension, insanity, schizophrenia, hysteria, insomnia and psychosomatic conditions, etc.
At present, the Unani System of Medicine, with its own recognized practitioners, hospitals and educational and research institutions forms an integral part of the National Healthcare System. Today, India is considered as a world leader in Unani Medicine.
Answer-No.-3(d)
Antipruritic drugs: Antipruritic drugs are mainly used to relieve problems affecting skin. These drugs are prescribed to combat itching, dryness, hives.
skin inflammation, allergy and skin infestations (due to exposure to irritants and toxic chemicals).
During severe itching and burning sensation, most people often feel compelled to scratch vigorously. But this can further lead to inflammation, soreness, pain and redness.
These problems are effectively treated with antipruritic drugs.
Antipruritic drugs are used to relieve itching, a symptom with a variety of possible causes, including inflammation or dryness of the skin, allergy, hormone deficiency in older women, exposure to irritant substances and skin infections and infestations.
It is often associated with sunburns, aller- gic reactions, eczema, psoriasis, chickenpox, fungal infections, insect bites and stings like those from mosquitoes, fleas and mites and contact dermatitis and urticaria caused by plants such as poison ivy Topical antipruritics in the form of creams and sprays are often available over the counter.
Oral anti-itch drugs also exist and are usually prescription drugs.
The active ingredients usually belong to these classes:
(1.) Antihistamines such as diphenhydramine (Benadryl).
(2.) Counterirritants, such as mint oil, menthol or camphor.
(3.) Corticosteroids such as hydrocortisone topical cream, see topical steroid.
(4.) Local anesthetics such as lidocaine, pramoxine or benzocaine in topical creams or lotions.
(5.) Nalfurafine,an orally administered,centrally acting K-opioid (kappa-opioids) agonist approved for uremic pruritus and effective in animal models of other prurituses.
Answer-No.3 (e)
Action of vasodilator drugs :-
Vasodilators are used to treat hypertension, heart failure and angina. Vasodilator drugs relax the smooth muscle in blood vessels, which causes the vessels to dilate.
Dilation of arterial (resistance) vessels leads to a reduction in systemic vascular resistance, which leads to a fall in arterial blood pressure.
Dilation of venous (capacitance) vessels decreases venous blood pressure. Vasodilator drugs can be classified based on their site of action (arterial versus venous) or by mechanism of action.
Some drugs primarily dilate resistance vessels (arterial dilators; e.g. hydralazine), while others primarily affect venous capacitance vessels (venous dilators; eg. Nitroglycerine ).
Most vasodilator drugs, however, have mixed arterial and venous dilator properties
(mixed dilators; e.g. alpha-adrenoceptor antagonists, angiotensin converting enzyme inhibitors).
List of vasodilators is written below:
(1.) Alpha-adrenoceptor antagonists (alpha-blockers)
(2.) Angiotensin Converting Enzyme (ACE) inhibitors.
(3.) Angiotensin receptor blockers (ARBS) (4.) Beta2-adrenoceptor agonists (B2(beta2)agonists).
(5.) Calcium-channel blockers (CCBS).
(6.) Centrally acting sympatholytics.
(7.) Direct acting vasodilators.
(8.) Endothelin receptor antagonists.
(9.) Ganglionic blockers.
(10.) Nitrodilators.
(11.) Phosphodiesterase inhibitors.
(12.) Potassium-channel openers.
(13.) Renin inhibitors
Answer-No.-3(f.)
Digitalis Toxicity : Cardiac glycosides include drugs like digoxin and digitoxin . They have a low safety margin and adverse effects are common . They inhibit Na + / K + -ATPase in all excitable tissues including neurons and smooth muscle cells .
This is responsible for toxicity .
(1.) Extracardiac : Anorexia , nausea , vomiting and diarrhea are the first symptoms to appear .
Cardiac glycosides directly stimulate the CTZ . Weakness , confusion , hallucinations , blurred vision and on long - term use gynecomastia can occur .
(2.) Cardiac toxicity : Arrhythmias of any type including extrasystoles , bradycardia , pulses bigeminy and AV block ( ventricular tachycardia and fibrillation ) can be caused by cardiac glycosides . Hypokalemia enhances digitalis toxicity .
Treatment of Toxicity :
(1.) Stop digitalis.
(2.) Oral or parenteral K+ supplements are given .
(3.) Ventricular arrhythmias are treated with IV phenytoin .
(4.) Bradycardia is treated with atropine and supraventricular arrhythmias with propranolol .
(5.) Antidigoxin immunotherapy is now available . It is life - saving in severe poisoning.
Answer-No. -3(g.)
Role of Nurse in Administering Plasma Expanders :- plasma expanders are agents that have relatively high molecular weight and boost the plasma volume by increasing the osmotic pressure .
They are used to treat patients who have suffered hemorrhage or shock .
For example , Dextran 40 , human albumin .
They are the intravenous fluid solutions that are used to increase the volume of fluid in the circulating blood .
Nurses play similar role as for administering intravenous medication.
Nurse should follow certain instructions while giving parenteral therapy :
(1.) Give injections only on the doctor's written orders .
(2.) Nurse should follow aseptic techniques in the sterilization of equip ments , in the preparation of medications , in the administration of injections .
(3.) Syringes and needles used for injections should be kept separate from those used for other purposes.
For example, keep the aspiration syringes only for that purpose and should not be mixed with the syringes used for injections.
(4.) Always have the syringes and needles in good order. Syringes should be airtight and the needles should be sharp and patent.
(5.) Change the needle after withdrawing the drug from a rubber strapped container before giving injection to the client. When the needle passes through the rubber stopper, there is a chance for the needle to become blunt.
(6.) Observe the 'five rights' of the administration of medicines while giving injections to any patient.
(7.) Never use a drug whose expiry date is over.
(8.) Always have the client relaxed and placed in a comfortable position. If possible let the client take a lying down position.
(9.) Always have the client relaxed and placed in a comfortable position. If possible let the client take a lying down position. 10. (10.) Never allow the client to walk soon after the injection as he should be watched for any reaction.
(11.) Always give a test dose in case of penicillin and all types of sera before the first dose is administered to rule out any allergic reaction.
(12.) Expel the air from the syringe before the injection.
(13.) Select the appropriate site for giving injections. The site depends upon the type of medication, quantity ordered and route of administration.
Do not give any injection into the tissues that are tender, painful, hot, edematous, diseased or where there is a scar tissue.
(14.) Rotate the site especially for client getting insulin to prevent lipodystrophy.
(15.) Use correct technique of injection. The needle inserted gently and quickly, the drug injected slowly and the needle withdrawn gently and quickly will be helpful to reduce the pain.
(16.) After inserting the needle, always withdraw the piston to make sure that it is not in a blood vessel in case of intramuscular and subcutaneous injections.
(17.) Solution for parenteral therapy should be clear, sterile, nearly neutral in reaction, isotonic if possible, non-hemolytic and contain only sub- stances that are soluble in water, when used for intravenous injections.
(18.) Massage the area at the site of the injection except in case of intradermal injection and intravenous injections.
(19.) Injection should be charted immediately after it is administered.
(20.) Check the symptoms of overdose or allergic reaction.
(21.) Check the consciousness of the client and the ability to follow directions.
Answer-No.-3 (h)
Role of nurse in administering antiviral drugs:-
Antivirals are agents used to treat the diseases caused by viruses such as warts and common colds.
Assess patient for cautions and contraindications (e.g. drug allergies, hepatorenal impairment, pregnancy and lactation, severe CNS disorders, etc.) to prevent any untoward complications.
(1.) Perform a thorough physical assessment is helpful to establish baseline data before drug therapy begins, to determine effectiveness of therapy, and to evaluate for occurrence of any adverse effects associated with drug therapy.
(2.) Evaluate renal function tests to determine baseline function of the kidneys and to assess adverse effects on the kidney and need to adjust the dose of the drug.
(3.) Administer drug as prescribed as soon after exposure to the virus is possible to enhance effectiveness and decrease the risk of complications due to viral infection.
(4.) Provide plenty of fluids to decrease the toxic effects of drugs on kidneys.
(5.) Teach patient importance of adherence to treatment. Ensure patient takes the complete course of the drug regimen to improve effectiveness and decrease the risk of emergence of resistant viruses.
(6.) Wear protective gloves when applying the drug topically to decrease the risk of exposure to the drug and inadvertent absorption.
(7.) Provide safety precautions
(e.g. use of side rails, appropriate lighting, orientation, assistance)
if CNS effects occur to protect the patient from injury.
(8.) Monitor renal function tests periodically during treatment to ensure 8. prompt detection and early intervention should renal toxicity develop.
(9.) Educate client on drug therapy to promote understanding and compliance.
(10.) These drugs are used with caution in pregnancy and during lactation.
(11.) Provide the following patient teaching:
(a.) Avoid sexual intercourse, if genital herpes is being treated because a. these drugs do not cure the disease.
(b.) Wear protective gloves when applying topical agents.
(c.) Avoid driving and hazardous tasks if dizziness or drowsiness occurs.
Section -B (pathology)
Write short notes on:
(A.) Anemia.
(B.) Osteoporosis.
(C.) Hydrocephalus.
Answer-No.- 1 (a)
Anemia:-Anemia is defined as "the condition in which the number of red blood cells in the blood is low"
Anemia is classified according to the size of the red blood cells:
(1.) Microcytic anemia: Red blood cells are smaller than normal. It includes:
(a.) Iron deficiency Anemia.
(b.) Thalassemia.
(2.) Normocytic Anemia: Red blood cells size are normal in size (but low in number), such as anemia that accompanies chronic disease or anemia related to kidney disease due to deficiency of erythropoietin.
It includes:
(a.) Sickle cell anemia.
(b.) G6PD (Glucose 6-phosphate dehydrogenase) deficiency anemia.
(c.) Aplastic anemia.
(3.) Macrocytic anemia: Red blood cells are larger than normal. It includes:
(a.) Pernicious anemia.
(b.) Folic acid deficiency anemia.
Causes of Anemia :-
Common causes of anemia include the following:
(1.) Anemia from active bleeding: Loss of blood through heavy menstrual bleeding or, wounds can cause anemia.
Gastrointestinal ulcers or cancers such as cancer of the colon may slowly ooze blood and can also cause anemia.
(2.) Iron deficiency anemia: It is a condition in which total body iron content is decreased below the normal level.
(3.) Anemia of chronic disease:
Any long-term medical condition can lead to anemia.
The exact mechanism of this process in unknown, but any long- standing and ongoing medical condition such as a chronic infection or a cancer may cause this type of anemia.
(4.) Anemia related to kidney disease: The kidneys release a hormone called the erythropoietin that helps the bone marrow make red blood celle people with chronic (long-standing) kidney disease, the production of this hormone is diminished, and this in turn diminishes the production of red blood cells, causing anemia.
(5.) Anemia related to pregnancy: Water weight gain during pregnancy dilutes the blood, which may be reflected as anemia.
(6.) Anemia related to poor nutrition: Vitamins and minerals are required to make red blood cells. In addition to iron, vitamin B12 and folate are re- quired for the proper production of hemoglobin.
Deficiency in any of these may cause anemia because of inadequate production of red blood cells. Poor dietary intake is an important cause of low folate and low vi- tamin B12 levels.
Strict vegetarians who do not take sufficient vitamins are at risk to develop vitamin B12 deficiency.
Answer-No.-1 (b)
Osteoporosis: Osteoporosis syndrome including mul- tiple bones in which there is quantitative reduction of bone tissue mass but the bone tissue mass is otherwise normal.
This reduction in bone mass results in fragile skeleton which is associated with increased risk of fracture and consequent pain and deformity.
Pathologic Changes: Except disuse or immobilization, osteoporosis which localized to the affected limb, other forms of osteoporosis have systemic skeletal distribution.
Most commonly encountered osteoporotic fractures are:
(1.) Vertebral crush fracture
(2.) Femoral neck fracture
(3.) Wrist fracture
(4.) There is enlargement of medullary cavity and thinning of cortex.
Histologically, osteoporosis may be:
(1.) Active osteoporosis: It is characterized by increased bone resorption and formation that is accelerated turn over.
There is increase in the number of osteoclast with increased resorptive surface as well as increased quantity of osteoid with increased osteoblastic surfaces: The width of osteoid is seems normal.
(2.) Inactive osteoporosis: It has the features of minimal bone formation and reduced resorptive activity that is reduced turn over.
Histological changes of inactive osteoporosis include decreased number of osteoclast with decreased resoptive surfaces and normal or reduced amount of osteoid with decreased osteoblastic surface. The width of osteoid seems is usually reduced or may be normal.
Answer-No.- 1 (c)
Hydrocephalus: Hydrocephalus is the accumulation of cerebrospinal fluid within ventricular spaces of the brain.
It occurs most commonly in neonates In adults it results from injury or disease.
Etiopathogenesis:
(1.) Hydrocephalus may result from:
(a.) Obstruction in CSF flow (non communicating hydrocephalus).
(b.) Faulty absorption of CSF (communicating hydrocephalus).
(2.) Risk factors associated with the development of hydrocephalus in infants may include:
Intracranial hemorrhage from birth trauma or prematurity.
(3.) In older children and adults, risk factors may include:
Meningitis, mastoiditis, chronic otitis media, Brain tumors or intra cranial hemorrhage.
Clinical manifestations:
(1.) In infants, the signs and symptoms include:
(a.) Enlargement of the head clearly disproportionate to the infant's growth from the increased CSF volume.
(b.) Distended scalp veins from increased CSF pressure.
(c.) Thin, shiny, fragile-looking scalp skin from the increase in CSF pressure.
(d.) Underdeveloped neck muscles from increased weight of the head.
(e.) Depressed orbital roof with downward displacement of the eyes and prominent sclera from increased pressure.
(f.) High pitched, shrill cry, irritability and abnormal muscle tone in the d. e. f. legs from neurologic compression.
(g.) Projectile vomiting from increased ICP.
(h.) Skull widening to accommodate increased pressure.
(2.) In adults and older children, indicator of hydrocephalus include:
(a.) Decreased level of consciousness from increased ICP.
(b.) Ataxia from compression of motor areas.
(c.) Incontinence.
(d.) Impaired intellectual ability.
Pathological changes:
(1.) There is dilatation of ventricles depending upon site of obstruction.
(2.) Thinning and stretching of brain.
(3.) Enlarge scalp vein.
(4.) Fontanelle remain open.
Answer-No.-2 (a)
Embolism: An embolus is a mass of material in the vascular system may become lodged within a vessel and block its lumen.
The material may arise within the body or have been introduced from outside.
Embolus material include atheromatous plaque material, vegetation on heart valve, fragments of tumors, amniotic fluid, gas and fat.
Etilogy: Trauma to bone/soft tissue, extensive burn, diabetes mellitus, fatty Iver, inflammation of bones and soft tissues, angiography, IV infusion of blood and fluid.
Classification of embolism: Depending upon the matter, it can be solid (bacterial dump, foreign body, parasites, tissue fragments, tumor cells), liquid (fat globules, amniotic fluid, bone marrow) and gaseous (air and other gases).
Depending upon whether infected or not, it can be sterile or infected. Depending upon the source of embolism, it can be cardio-embolism, venous embolism, lymphatic embolism and arterial embolism.
Common origin of embolism are vein of lower leg, left ventricles, trauma to bones, head and neck operation, cardio-thoracic surgery, divers, components of amniotic fluid and tumor fragments.
Answer-No.2(b)
Bone Marrow Examination
Description:
(1.) Bone marrow is the soft, organic, sponge-like material contained in the spaces between trabeculae of cancellous bone.
(2.) It is composed of red and yellow marrow, with the chief function being production of erythrocytes, leukocytes and platelets.
Only the rusty, red marrow produces blood cells. The yellow marrow is formed of connective tissue and fat cells, which are inactive.
(3.) During infancy and childhood, bone marrow is primarily red marrow and in adult 50% is red marrow. The bone marrow aspiration procedure obtains a sample of bone marrow by needle.
(4.) A stained blood smear of sample is evaluated for bone marrow morphology and examination of blood cell erythropoiesis, cellularity, differential cell count, bone marrow iron stores and M.E. Ratios.
(5.) Bone marrow can be obtained by using Salah's, Klima's or Jamshidi's marrow aspiration needles. Not more than 0.2 ml of bone marrow should be taken out at one time. If blood or dry taps have occurred on 2 different occasions, a trephine biopsy should be performed.
(6.) For aspiration of bone marrow, Klima's needle is better as the guard has no chances of getting slipped and hence dangers of puncturing substernal structures are less.
(7.) Before entering the site of puncture take all aseptic precautions, i.e. cleaning with spirit, iodine and spirit again.
The various sites for obtaining bone marrow are:
In Adults:
(1.) Sternal aspiration.
(2.) Anterior iliac crest.
(3.) Vertebral spinous processes.
(4.) Posterior superior iliac spine.
In Children:
(1.) Tibia, superior medial surface of the tibia, inferior to the medial condyle and medial to the tibial tuberosity .
(2.) Posterior iliac crest.
(3.) Calcaneum.
Usage:
(1.) Helps to distinguish primary and metastatic tumours.
(2.) Assists in the identification, classification and staging of neoplasias.
(3.) Assists in the definitive diagnosis of blood disorders.
(4.) Aids evaluation of the progress and/or response to the treatment of neaplasias.
(5.) cluture of an aspirated sample can aid in the identification of infections such as histoplasmosis or tuberculosis.
(6.) Histological examination aids in the diagnosis of carcinoma, granulomas, lymphoma or myelofibrosis.
(7.) Iron stain showing decreased hemosiderin levels may indicate iron deficiency and SBB stain differentiates acute granulocytic leukemia from acute lymphocytic leukemia.
(8.) Increased eosinophils: Bone marrow carcinoma, eosinophilic leukemia, lymphadenoma, myeloid leukemia and pernicious anemia (relapse).
(9.) Increased lymphocytes: Aplastic anemia, hypoplasia of the bone marrow, Infectious lymphocytosis or mononucleosis, lymphatic leukemoid reactions, lymphocytic leukemia (B-cell and T-cell), lymphoma, macroglobulunernia, myelofibrosis and viral infections.
(10.) Increased megakaryocytes: Acute hemorrhage, aging, chronic myeloid leukemia, hypersplenism, idiopathic thrombocytopenia, infection, megakaryocytic myelosis, myelofibrosis, pneumonia, polycythemia vera and thrombocytopenia.
(11.) Increased plasma cells: Agranulocytosis, amyloidosis, aplastic anemia, carcinomatosis, collagen disease, hepatic cirrhosis, Hodgkin's disease, hypersensitivity reactions, infection, irradiation, macroglobulinaemia, malignant tumour, multiple myeloma, rheumatic fever (acute), rheuma- toid arthritis, serum sickness, syphilis and ulcerative colitis.
(12.) Increased granulocyte: Hypoplasia of the bone marrow, infections, my- elocytic leukemia reaction and myeloproliferative syndrome.
(13.) Increased normoblasts: Anemia (iron deficiency, hemolytic, megaloblastic), blood loss (chronic), erythemia, erythroid-type, myeloprolifei ative disorders, hypoplasia of the bone marrow, polycythemia vera.
(14.) Increased ME ratio above 7:1 Decreased hematopoiesis, erythroid hypo- plasia, leukemoid reactions and myeloid leukemia.
(15.) Increased diffuse bone marrow hyperplasia myeloproliferative reac- tions, syndromes and pancytopenia.
(16.) Decreased megakaryocytes. Anaemia (aplastic, pernicious), bone mar- row hyperplasia, cirrhosis, irradiation and thrombocytopenia purpura. Drugs include benzene, chlorothiazide and cytotoxic drugs.
(17.) Decreased granulocyte: Agranulocytosis, hyperplasia of the bone mar- row and radiation.
(18.) Decreased normoblasts: Anemia (aplastic, pernicious, folic acid or vita- B deficiency.
(19.) Decreased M:F ratio below 2:1: Agranulocytosis, anemia (iron deficiency, normoblastic, pernicious, posthemolytic, posthemorrhagic, thyroid activity (increased), hepatic myeloid formation (decreased), polycythemia vera; sprue and Steatorrhea.
(20.) Decreased diffuse bone hypoplasia: Ageing, cellular infiltrations, dengue fever; myelofibrosis, myelosclerosis, myelotoxic agents, osteoporosis, rubella and viral infections.
Indications for Bone Marrow Aspiration: Absolute Indications:
(1.) Megaloblastic Macrocytic anemia.
(2.) Aleukemic or Subleukemic Leukemia.
Diagnostic Importance:
(1.) Multiple myeloma.
(2.) Aplastic anemia.
(3.) Gaucher's disease.
Confirmatory Importance:
(1.) Leukemias of all types.
(2.) Hemolytic anemia.
(3.) Idiopathic thrombocytopenic purpura
(4.) Idiopathic granulocytopenia.
(5.) Leishmaniasis.
(6.) Disseminated Lupus Erythematosus (LE cells).
(7.) Metastatic disease .
(8.) Myeloproliferative disorders.
(9.) Sideroblastic anemia.
(10.) Iron deficiency anemia.
(11.) Lymphoma (staging)
(Bone marrow may be obtained from one person for transplantation into another).
Bone Biopsy may be Needed in:
(1.) Malignant lymphoma.
(2.) Metastatic carcinoma.
(3.) Sarcoidosis
(4.) Tuberculosis.
(5.) Brucellosis
(6.) Histoplasmosis .
(7.) Storage disorders.
(8.) Aplastic anemia.
(9.) Myelofibrosis.
(10.) Acute leukemias
Contraindications:
(1.) Hemophilia.
(2.) Bleeding diathesis .
(3.) Infection at site of puncture
Answer-No.-2(c)
Glomerulonephritis : It is bilateral inflammation of the glomeruli , typically following streptococcal infection .
Clinical manifestations :
(1.) Decreased urination ( oliguria ) due to decreased GFR .
(2.) Smoky or coffee colored urine due to hematuria .
(3.) Dyspnea or orthopnea due to pulmonary edema secondary to hyperyolemia.
(4.) Periorbital edema .
(5.) Mild to severe hypertension.
(6.) Proteinuria.
Pathological changes :
(1.) Grossly kidneys are symmetrically enlarged , weighing one and a half to twice the normal weight .
(2.) Cut section shows petechial hemorrhages giving appearance of flea bitten kidney .
(3.) Glomeruli are enlarged and hyper cellular due to infilteration of leukocytes , polymorphs and monocytes .
(4.) Swelling and hyaline droplets in the tubules .
(5.) Some degree of interstitial edema is present .
(6.) Changes in arteries and arterioles associated with hypertension .
Answer-No.-2 (d)
Vesicular Mole: Vesicular mole, also known as hydatidiform mole.
Hydatidiform mole is a pathologic conceptus characterized by marked enlargement of the placental villi.
Hydatidiform mole is a part of a generic term: The gestational trophoblastic disease (GTD). It is a diploid paternal only genome. Ul trasonography shows characteristic snow storm appearance.
Patients typically present with abnormal ultrasound, vaginal bleeding or a missed abortion.
Pathophysiology:
(1.) 90% of complete moles are 46, XX, arising from duplication of the chromosomes of a haploid sperm after fertilization of an egg with inactive or 1. absent maternal chromosomes.
(2.) 10% of cases are 46, XY as a result of fertilization of an empty ovum by 2 sperm (dispermy).
(3.) Rarely tetraploid.
Clinical Features:
(1.) Vaginal bleeding with passage of grape-like vesicles is a common presentation. Disproportionately large uterus for the stage of pregnancy.
(2.) Increasing serum hCG levels after the 14th week, as opposed to the drop typically seen in the course of normal gestation.
(3.) Evidence of toxemia of pregnancy (hypertension, edema, albuminuria) typically during the early stages of the pregnancy.
(4.) Rarely, hyperthyroidism may develop.
Answer-No.- 2(e)
Chronic inflammation: Inflammation is the local physiological response to tissue injury.
Inflammation is classified as acute and chronic.
Chronic inflammation extends over a long period of time, It is characterized by infilteration of mononuclear immune cells, tissue destruction.
Onset of chronic inflammation is delayed but remain inside body for many months or years.
Commonest appearance of chronic inflammation are:
Chronic ulcer, such as chronic peptic ulcer of stomach.
Chronic abcess cavity for example: Osteomyelitis, Empyema thoracis.
Thickening of the wall of a hollow viscus by fibrous tissue in the presence of a chronic inflammatory cell infilterate, for example crohn's disease, chronic cholecystitis.
Granulomatous inflammation, characterized by the formation of granulomas, perhaps with caseous necrosis as in chronic fibrocaseous tuberculosis of the lungs.
Fibrosis, which may become the most prominent feature of the chronic inflammatory reaction when most of the chronic inflammatory cell infilterate has subsided. This is commonly seen in chronic cholecystitis.
Answer-No. 2 (f)
Infective Endocarditis: Endocarditis is an inflammation of the inner layer of the heart, the endocardium.
Infective endocarditis is a form of endocarditis caused by infectious agents.
The agents are usually bacterial, but other organisms can also be responsible.
Infective endocarditis is a serious infection requiring prompt diagnosis and interventions.
It is characterized by microbial invasion of heart valves or mural endocardium often with destruction of the underlying cardiac tissues and results in bulky, friable vegetation composed of necrotic debris, thrombus and organisms.
Virulent organisms, such as staphylococcus aureus, produce an ACUTE bacterial endocarditis, while some organisms such as streptococcus viridians produce a SUB ACUTE bacterial endocarditis.
Etiopathogenesis of infective endocarditis:
Đirect invasion of the endocardium.
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By microbe (e g. streptococci, enterococci, pneumococci, staphylococci, Candida)
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Leads to deformity of the valve leaflets and chordeatendinea by deposition of fibrin producing vegetation.
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INFECTIVE ENDOCARDITIS
Pathological changes:
(1.) Presence of typical vegetation on the valve cusps or leaflets (most frequently on the mitral, followed by aortic and then simultaneous involvement of both mitral and aortic valves).
(2.) The vegetation may vary in sizes from few mm to several cm, grey to greenish, irregular, single or multiple and typical friable.
The friable fibrin vegetation may separate from site of infection and 2. result in embolization into systemic or general circulation.
Answer-No.- 2 (g)
Bronchiectasis: Permanent dilation of bronchi and bronchioles caused by destruction of mucosal and elastic tissues, caused by or associated with chronic necrotizing infection of bronchi and bronchioles.
Pathophysiology:
(1.) Obstruction (due to tumor, foreign body, inspissated mucus) causes resorption of air distal to obstruction, atelectasis and accumulation of intraluminal secretions.
(2.) Nonobstructive bronchiectasis is due to pneumonia and atelectasis, which increases negative, intrapleural pressure, which exerts an external force on bronchial walls, causing them to dilate; usually left sided affecting lower lobes.
Clinical features:
(1.) Diagnosis is based on presence of infection (stasis occurs in dilated bronchi) and obstruction.
(2.) Patients have significant morbidity.
(3.) 9% prevalence in Korean study; associated with TB.
(4.) Symptoms: Cough, fever and copious amounts of foul smelling, purulent sputum.
(5.) Causes: Bronchial obstruction (localized bronchiectasis), congenital bronchiectasis, cystic fibrosis, intralobar sequestration of lung, immunodeficiency, immotile cilia/Kartegener syndrome, Young syndrome, necrotizing pneumonia (staphylococcus, tuberculosis).
(6.) Cystic fibrosis: Obstruction due to mucus plugs, infection due to decreased ciliary clearance of bacteria.
(7.) Kartegener syndrome: Autosomal recessive condition with variable penetrance; due to absent or irregular dynein arms of cilia, which causes de- fective bacterial clearance (bronchiectasis, sinusitis), defective cell motility during embryogenesis (situs inversus) and immotile sperm (infertility).
(8.) Young syndrome: Infertility caused by azoospermia, but without uitrastructural ciliary abnormalities.
Treatment: - Sputum culture prior to initiating treatment with antibiotics
Gross Description: Markedly distended peripheral bronchi, usually in lower lobes, can trace to pluralsurface ; bronchial walls are irregularly thickened.
ANSWER - 3 (a)
Autosomal Dominant Diseases: Inheritance refers to how genetic information is passed down from parent to child. Mendelian inheritance or "classic" inheritance is one of the foundations of genetics.
Gregor Mendel, who is often called the founder of modern genetics, performed many experiments on pea plants and was able to make several important observations.
Autosomal dominant is one of many ways that a trait or disorder can be passed down through families. Autosomal dominant inheritance is a pattern of inheriance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes.
Examples of autosomal dominant diseases include Huntington disease, neurofibromatosis, and polycystic kidney disease, Neurofibromatosis, Achondropiasia, Huntington disease, Ehiers-Danlos syndrome, Marfan's syndrome, adult polycystic kid- ney disease, and Treacher Collins syndrome.
In autosomal dominant disorders, only one allele of a mutated gene is necessary for disease. This allele may come from the sire or from the dam; thus, if one parent carries even one mutated allele (heterozygous), each off- spring has a 50% chance of inheriting the mutation.
In autosomal dominant disorders, most mutations lead to reduced production of a protein or give rise to an inactive protein.
The clinical effect of these loss-of-function muta- tions depends on the activity of the protein affected, If such mutations in- volve an enzyme, heterozygotes may be clinically normal because the normal allele can compensate for up to a 50% loss of enzymatic activity.
Answer. -No.3(b)
Prenatal Testing and Diagnosis : The prenatal screening tests and mainly used to determine the specific risk factors of pregnant population so that the new population should be healthy population in both senses , i.e. physically well as mentally.
Congenital abnormalities occur at a rate of 2%, with major defects occuring in 1℅ of live births.
Many genetic and other disorders can now be diagnosed early enough in pregnancy to allow therapeutic options, including termination.
Need for prenatal testing is felt to identify:
Risk of Chromosomal Disorder:
(1.) Maternal age > 35 years.
(2.) Previous child with disorder, e.g. trisomy 21 (down's syndrome).
(3.) Abnormal parent , e.g. carrier of balanced translocation .
(4.) Consanguinity ( off spring of first cousins risk up to 6 % ) .
(5.) . Risk of gene defects ( high risk of recurrence - up to 50 % ) .
(6.) Metabolic disorders .
(7.) Structural / constitutional disorders , e.g. haemoglobinopathies.
Risk of Neural Tube Defect ( NTD ) :
(1) Previous child with NTD .
(2.) Family history of NTD , especially . mother with NTD .
(3.) Diabetes during pregnancy.
Risk of Multiple Defects :
(1.) Drug or chemical exposure , e.g. anti - convulsants .
(2.) Maternal infections , e.g. Rubella , CMV .
(3.) Maternal diseases , especially if poorly controlled , e.g. IDDM .
Prenatal testing is often a topic of concern for parents - to - be . It is important to remember that most tests are negative , and positive results may open opportunities for successful interventions or informed choices .
It includes blood test such as : Maternal Serum Alpha Feto Protein ( MSAFP ) , gene probe , genetic testing and chorionic villous sampling .
Answer-No.-3(C)
Spontaneous Abortion : According to WHO : Abortion is the expulsion or extraction from its mother of an embryo or fetus weighing 300 gm or less when it is not capable of independent survival .
An early miscarriage is the spontaneous loss of pregnancy during the first 20 weeks of gestation . It is known as spontaneous abortion .
Etiology : The etiology of spontaneous abortion is often complex and obscure .
The following are the potential causes :
(1.) Genetic factors : Chromosomal abnormalities .
(2.) Endocrine and metabolic factors : Low progesterone levels . The hormone progesterone is necessary for maintaining a healthy pregnancy . Insufficient level of progesterone may result in miscarriage.
(3.) Infection : Infections and diseases . Many bacterial and viral infections can contribute to a miscarriage , including viral infections , such as the cytomegalovirus , bacterial infections such as chlamydia , mycoplasma , urea plasma and streptococcus or in rare cases parasitic infection such as toxoplasmosis .
Disease , such as undiagnosed diabetes , may also cause a miscarriage .
(4.) Age of the mother : The rate of miscarriage increases with the age of the mother . Around half of all pregnancies in women over 40 end in miscarriage.
(5.) Immunological : Autolmmune diseases.The presence of certain complex antibodies such as the lupus anticoagulant and the anticardiolipin antibodies can cause miscarriages .
(6.) Other possible causes : Chronic illnesses , exposure to environmental toxins ( such as certain metals ) and stress . Examples include thyroid abnormalities ( either overactive or underactive thyroid ) , poorly con trolled diabetes or intrauterine adhesions ( most commonly caused by previous infections or procedures such as dilation and curettage ) .
High dose radiation and chemotherapy are known toxins that can cause preg nancy loss .
Industry employees working with chemicals such as dyes metals or solvents are at greater risk .
Maternal stresses and heavy use of tobacco , caffeine , alcohol and drugs can also be factors .
Clinical Features :
(1.) Vaginal bleeding : Especially heavy bleeding with passage of blood clots.
(2.) Abdominal pain : Severe or persistent pain in the pelvis or lower back .
(3.) Blood clots : Grayish matter may pass as the miscarriage begins . This is the embryo and placenta .
(4.) The early ending of morning sickness symptoms and loss of breast tenderness .
Management : Surgery is not necessary if the fetus and placenta are completely expelled from the uterus . But if only part of the fetus and placenta are expelled or none at all , there are several options :
(1.) D and C ( dilation and curettage ) : The cervix is dilated or widened and a curette is used to scrape the remaining tissue from the lining of the uterus .
(2.) Vacuum aspiration : A mechanical pump is used to suction the remaining tissue out of the uterus .
(3.) Medical management : The woman is given a medication that causes uterine contractions . Most women will pass the pregnancy within 24 hours of taking the medication .
If miscarriage does not occur , the woman undergoes a surgical treatment ( D and C or vacuum aspiration ) .
Bleeding may continue for several weeks after a miscarriage and change in color from bright red to pink .
Answer. No. - 3(d)
Mutations : Mutations are changes to the nucleotide sequence of the genetic material of an organism .
Mutations can be caused by copying errors in the genetic material during cell division , by exposure to ultraviolet or ionizing radiation , chemical mutagens , or viruses , or can occur deliberately under cellular control during processes such as hypermutation .
In multicellular organisms , mutations can be subdivided into germ line mutations , which can be passed on to descendants , and somatic mutations , which are not transmitted to descendants in animals.
Causes of Mutation : Two classes of mutations are spontaneous mutations ( molecular decay ) and induced mutations caused by mutagens .
Spontaneous Mutations on the Molecular Level include :
(1.) Tautomerism : A base is changed by the repositioning of a hydrogen atom.
(2) Depurination : Loss of a purine base ( A or G )
(3.) Deamination : Changes a normal base to an atypical base ; C --> U , ( which can be corrected by DNA repair mechanisms ) , or spontaneous deamination of 5-methycytosine ( irreparable ) or A --> HX ( hypoxanthine ) .
(4.) Transition : A purine changes to another purine , or a pyrimidine to a pyrimidine.
(5.) Transversion : A purine becomes a pyrimidine , or vice versa.
Benzopyrene, the major mutagen in tobacco smoke, in an adduct to DNA.
Induced mutations on the molecular level can be caused by :
Chemicals , Nitrosoguanidine ( NTG ) , Hydroxylamine NH2OH , Base analogs , Simple chemi cals ( e.g. acids ) and Alkylating agents , ( e.g. N - ethyl - N - nitrosourea ) .
Radiation : Ultraviolet radiation ( nonionizing radiation ) excites electrons to a higher energy level . DNA molecules are good absorbers of ultraviolet light, especially that with wavelengths in the 260 to 280 nm range.
Nucleotide bases in DNA - cytosine and thymine - are most vulnerable to excitation that can change base - pairing properties.
UV light can induce adjacent thymine bases in a DNA strand to pair with each other, as a bulky dimer.
lonizing Radiation :
Viral Infections : DNA has so - called hotspots , where mutations occur up to 100 times more frequently than the normal mutation rate . A hotspot can be at an unusual base, e.g. 5-methylcytosine.
Mutation rates also vary across species : Gene mutations may be inherited or acquired . Inherited or germ - line gene mutations are present in the DNA of all body cells and are passed on in re productive cells from parent to child.
Spontaneous gene mutations take place in individual oocytes or sperm at the time of conception. Acquired mu tations take place in somatic cells and involve changes in DNA that occur after conception, during a person's lifetime.
Acquired mutations develop as a result of cumulative changes in body cells other than reproductive cells . Somatic gene mutations are passed on to the daughter cells derived from that particular cell line.
Gene mutations occur in the human body all the time.
Answer. No. - 3(e)
Neural tube defects : Neural tube defects are birth defects of the brain and spinal cord . The two most common neural tube defects are spina bifida and anencephaly.
=> In spina bifida , the fetal spinal column doesn't close completely during the first month of pregnancy . There is usually nerve damage that causes at least some paralysis of the legs .
=> In anencephaly , much of the brain does not develop . Babies with anencephaly are either stillborn or die shortly after birth.
Types of Neural Tube Defects : Cases of spina bifida are generally classified as either " closed " where the skin covers the defect or as " open " where the skin is not intact .
(1.) Closed Neural Tube Defects :
Occulta : Spina bifida occulta is often called hidden spina bifida . A small gap may exist in one or more of the vertebrae , but the spinal cord and tissues are normal . Many people with this condition do not have any symptoms .
Often there is a visible sign on the outside of the baby's skin . This may be a tuft of hair , a dimple , a birthmark , lump or skin opening .
Many patients with this condition will have few symptoms , but some may have nerve dam weakness and pain . age that affects normal bowel or urinary function and can cause lower body weakness and pain.
(2.) Open Neural Tube Defects :
(1.) Meningocele : With this type of spina bifida , cerebrospinal fluid and meninges have ballooned out of the spinal opening to form a bulge or sac , but the spinal cord is usually in its normal location .
This bulge may or may not be covered with a layer of skin . This bulge will be notice able on the back of the baby .
(2.) Myelomeningocele : This is the most severe type of spina bifida . It develops when the cerebrospinal fluid , meninges , and the spinal cord pro trude through the opening in the spine .
It leaves the spinal cord vulnerable to damage and can cause paralysis in those parts of the body be low the opening.
Affected patients frequently have bowel and urinary dysfunction . Newborns with this condition are at an increased risk of developing meningitis.
Laboratory Tests : Triple screen or Quad screen - this group of tests is per formed on the mother during her 2nd trimester and includes an AFP ( alpha fetoprotein ) test.
Increased levels of AFP have been associated with an in creased risk of an open NTD .
(1.) AFP and acetylcholinesterase in amniotic fluid . If the serum AFP is elevated , AFP and acetylcholinesterase can be measured in amniotic fluid , as confirmatory tests.
(2.) A fetal karyotype test may also be done on the fluid to rule out chromo somal abnormalities . These tests are followed by or performed with a fetal ultrasound.
Non - Laboratory Tests : Tests include :
(1.) Fetal ultrasound - to help diagnose NTDs prior to birth .
(2.) X - ray , MRI and CT scan.
(3.) Regular clinical examinations.
Treatments :
(1.) The goals with treatment are to prevent as many cases of NTDs as possible.
For those affected , the goals are to minimize symptoms and com plications and to lead as normal and active a life as possible.
(2.) Adequate folate / folic acid is the primary prevention tool .
It is recommended that all women of childbearing age get at least 400 micro grams of folic acid / folate a day , Folic acid can be found in dark green vegetables and some fruit.
Role of Nurse :
(1.) Provide proper position.preferably prone position to client with open neural tube defect in order to prevent further damage .
(2.) Do hand washing before contacting such client.
(3.) Keep the defect covered with sterile wet gauze to prevent infection .
(4.) Provide support to the parents and involve them in client's care .
(5.) Discuss with parents regarding the diagnosis , their treatment . clarify their doubts by explaining in simple language .
Answer-No.3(f)
Dysmorphism : Dysmorphism are the disorders occur due to abnormality in embryogenesis or morphogenesis .
The Child with developmental defects or congenital structural anoma les is called a dysmorphic child .
Dysmorphism is manifested during chilhood.
Classification of Dysmorphic Defects : The congenital structural anomalies may be classified as follows :
(1.) Structural or normal variants : These are normal developmental or anatomical variations without any therapeutic implications .
It include simian crease , clinodactyly ( medial or lateral deviation of finger ) , camptodactyly ( claw - like fingers ) , abnormal dermatoglyphics , wide anterior fontanelle , wide forehead , sacral , dimple , beaked or bulbous nose etc.
(2.) Minor anomalies . They are true anomalies and are primarily of cosmetic concern.
Examples include preauricular skin tags , supernumerary nipple , various nevi and pigmentary disorders , etc.
(3.) Major anomalies : The major developmental defect produces functional disability and may compromise normal life expectancy .
The anomaly may be detectable at birth or manifest any time during childhood.
(4.) Isolated versus multiple anomalies: The majority of birth defects are isolated involving a single organ or system.
The common examples are cleft lip, cleft palate, congenital heart disease, etc.
List of Common Dysmorphic Syndromes:
Chromosomal syndromes:
(1.) Down syndrome (Trisomy - 21).
(2.) Edward syndrome (Trisomy - 18)
The mean survival is about 3 months.
(3.) Patau syndrome (Trisomy - 13).
(4.) Turner syndrome (Monosomy X).
Syndromes with physical over growth and associated defects:
(1.) Fragile X syndrome.
(2.) Marshall-Smith syndrome.
(3.) Weaver-Smith syndrome.
Syndromes with unusual CNS or neuromuscular findings and associated defects:
(1.) Prader-Willi syndrome.
(2.) Myotonic dystrophy syndrome.
End.
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