First guideline for the industry and research establishment on how to make such products on the basis of sound ethical, scientific and regulatory norms.

Nine months after the national drug regulator CDSCO recognised “gene therapy” as a new drug, Indian Council of Medical Research has come out with the first guideline for the industry and research establishment on how to make such products on the basis of sound ethical, scientific and regulatory norms.

The guidelines not only outlines the ethical and scientific requirements for gene therapy trials but also asks developers to keep the patient’s safety, efficacy and clinical rigour in mind while developing such therapies

Two other types of therapies involve knocking out a bad gene that triggers disease and introducing a new gene to fight disease. The first successful gene therapy clinical trial was conducted in 1989 in the USA, for severe combined immunodeficiency.

“In India, there is no gene therapy trials yet. Along with guideline, the ICMR has also sought proposals from researchers for funding opportunities for gene therapy projects targeting human disease,” Geeta Jotwani, programme coordinator for gene therapy and gene editing at the ICMR told DH.

The apex medical research council looks at gene therapy as a treatment option not only for inherited diseases and rare diseases but also for multi-factorial ailments like cancer, diabetes, lung diseases and neurological diseases. Several Indian pharmaceutical companies have shown interest in a particular gene-therapy for cancer known as Car-T cell therapy, in which one particular immune cell of a patient (T-cell) is tweaked using gene therapy in such a manner so that they attack and kill cancer cells.

“While gene therapy is used to look for treatments of rare diseases, the clinical trial procedure for such therapies should be different. The US Food and Drug Administration has a fast track process for such therapies. They are unconventional products for which the protocol should be slightly different,” commented Sridhar Sivasubbu, a scientist at the Institute of Genomics and Integrative Biology, Delhi, who works on rare diseases but wasn’t involved in the making of the guideline.

While products for common diseases like cancer and diabetes may go through the standard three-phase clinical trial, the CDSCO may opt for a different protocol for rare diseases. In the notification, the regulator has defined a rare disease drug as “a medicine intended to treat a condition which affects not more than five lakh persons in India”.

In the past three years, several gene therapy products received approval for patient use from US and EU regulators, paving the way for the development of therapies for previously untreatable disorders. Worldwide, the market for such treatments is predicted to increase at a compound annual growth rate of 11.3% from 2018 to 2024.

What you Need to know about Medical Coding

What is Medical Coding?

Medical coding is the transformation of the following in to universal Medical alphanumeric codes.

• Healthcare diagnosis
• Procedures
• Medical services
• Equipment

• The diagnosis and procedure codes are taken  from medical record documentation, such as transcription of physicians notes, laboratory and radiologic results, etc.

Career path Ahead

• If you are currently employed as a medical coder, it would perhaps make a sense to gain considerable work and domain related experience i.e. at least 1-2 years of experience. This coupled with the right certification should be give you a head-start on your  career progression.

• The US healthcare industry is in the middle of a shift from ICD 9 to ICD 10 and having experience in the later is valuable asset right now and for coming year.

• With increase in your expertise and experience, you can expect your pay scale to go up. Down the line, you can get into medical office  management or medical office operations. 

Opportunities in Medical Coding

• Over the past several years there has been increase in the number of coding audits performed by the government to look for fraudulent  coding practices.

• In addition, there has been an increase in the rules regarding the privacy of health information records.

• Due to these recent developments, qualified coder's are needed to fill jobs other than the traditional medical coding positions.

• Some additional job opportunities for medical coders includes outpatient coding, inpatient coding, HEDIS abstraction, medical billing, and Medical Coding instructor.

• There are also positions available in closely related areas such as Health information management including coding supervisor  and health information manager.

Practice Question

Correct answer= B.
Pyrimethamine is active against T. gondii and in combination with sulfadiazine is the
treatment of choice for toxoplasmosis. Metronidazole is active against amebiasis and giardiasis. Leucovorin can
be used during the treatment of toxoplasmosis; however, its actions are to protect against folate deficiency caused
by the treatment, and the drug itself does not have antiprotozoal activity. Miltefosine is used for leishmaniasis

Practice Question

Correct answer = B. Miltefosine is the only oral agent available for the treatment of visceral leishmaniasis. All the

other drugs are orally administered, but artemether/lumefantrine is used for the treatment of malaria, nitazoxanide

is used for the treatment of giardiasis or cryptosporidiosis, and tinidazole is effective for amebiasis or giardiasis.

practice Question

Correct answer = C. The combination of atovaquone–proguanil has been used for both prevention and treatment

of malaria in chloroquine-resistant areas. Pyrimethamine is not recommended for prophylaxis of malaria.

Artemisinin and its derivatives are not used for prophylaxis, only treatment of malaria. Hydroxychloroquine is

only an alternative treatment or prophylaxis option in chloroquine-sensitive regions

methotrexate indication

7 must know Blood Reference Ranges

Uses of Spironolactone

live attenuated Vaccines

Practice Question

PRACTICE Question

Acetylsalicylic Acid (ASA)—Aspirin

Classification

Analgesic, antipyretic, antiplatelet; nonsteroidal antiinflammatory drug (first-generation NSAID)

Action

Is a nonselective cyclooxygenase inhibitor that decreases the formation of prostaglandins involved

in the production of inflammation, pain, and fever. Inhibits platelet aggregation.

Uses

• Relieves low-to-moderate pain

• Decreases inflammation in systemic lupus erythematosus, rheumatoid arthritis,

osteoarthritis, bursitis, and tendonitis

• Is a prophylactic medication to reduce the risk of transient ischemic attack, ischemic stroke,

and myocardial infarction

Contraindications and Precautions

• Hypersensitivity to salicylates

• Do not use during pregnancy

• History of gastrointestinal (GI) ulceration, peptic ulcer disease (PUD), or any bleeding

disorder

• Use in children with a recent history of viral infection (e.g., influenza, chickenpox) has been

associated with Reye syndrome

Side Effects

• Decreases platelet aggregation; increases bleeding potential

• Epigastric distress, heartburn, and nausea

• Aspirin overdose or toxicity—respiratory alkalosis that progresses to respiratory

depression and acidosis; hyperthermia, sweating, and dehydration with electrolyte

imbalance; tinnitus, headache

Nursing Implications

1. Give with milk or full glass of water to decrease gastric irritation.

2. Teach safety measures to parents regarding medications at home.

3. The potential for toxicity is high in older adults and children.

4. Teach patient to avoid concurrent use of alcohol to decrease GI irritation.

5. Patient should not take aspirin for at least 1 week before surgery.

6. Evaluate patient to determine purpose of medication—pain, inflammation, or antiplatelet

action.

Narcotic Antagonists: Naloxone (Narcan)

Actions

Opioid antagonists block (or antagonize) opiate-receptor sites. Principal use is the treatment of

opioid overdose.

Uses

• Reverse the opiate effects of narcotic overdose and respiratory depression

Contraindications and Precautions

• Patients who are using nonopioid drugs

• Neonates and children

• Patients with a history of dependency; may precipitate acute withdrawal

Side Effects

• Too rapid reversal of narcotic depression—nausea, vomiting, tremors, hypertension

• Minimal pharmacologic effects in absence of narcotics

• Reversal of analgesia

Nursing Implications

1. Preferred route of administration is intravenously; response is within 1 to 2 minutes, and

peak action is within 20 to 60 minutes.

2. Patient should be frequently assessed; if the narcotic analgesic lasts longer in the system

than the action of the Narcan antagonist, then respiratory depression may recur.

3. If patient has a history of opioid dependency, administration of Narcan may produce

symptoms of acute withdrawal.

4. If accidental poisoning or possible narcotic overdose is a concern, Narcan is usually

administered.

5. Not effective against barbiturates or other central nervous system depressant medications

Transdermal Medication Administration

General

• Transdermal medications are administered topically and absorbed through the skin into

the blood; they can exert a systemic effect.

• Avoids first-pass metabolism and decreases bioavailability of medication.

• Provides a controlled, constant release of medication.

• Patients who are obese or diaphoretic may have difficulty absorbing the medication.

• If a patient is going to have a magnetic resonance imaging (MRI) procedure, make sure the

patch of transdermal medication does not contain a metallic component. The U.S. Food and

Drug Administration (FDA) recommends that health care professionals note the presence

of a patch when they refer patients for an MRI. The patch may be removed before the MRI

and replaced after the exam is completed.

• Heat increases the absorption of transdermal medications. Check with the health care

provider (HCP) before administering a medication patch to a patient who has a

temperature higher than 102°F.

• Do not apply any heat over patch; doing so will increase absorption of medication.

• Do not allow medication to come in direct contact with fingers.

Administration Guidelines

1. Follow principles of medication administration.

2. Apply patch to dry, hairless area of subcutaneous tissue—preferably the chest, abdomen, upper back.

3. Remove old patch and cleanse area; apply new patch in a different area.

4. Do not apply a patch over an area of emaciated skin or on an area with irritated or broken

skin.

5. Do not apply an adhesive dressing over the patch.

6. Dispose old patches according to facility guidelines. Of specific concern is proper disposal

of fentanyl patches.

Ear Drop Administration

Procedure

• Position patient supine on his or her side with affected ear up.

• Medication should be at least room temperature, not cold.

• Open ear canal of an adult by drawing back on the pinna and slightly upward.

• Open ear canal of a child less than 3 years of age by drawing back on the pinna and slightly

downward.

• Allow the prescribed number of drops to fall along the inside of the ear and flow into the

ear by gravity. Do not attempt to put the drops directly on the eardrum.

• Have patient remain supine for a few minutes to keep the medication from leaking out.

Top 20 General Pharmacology Questions Every student should know

Top 20 General Pharmacology Questions Every Student Should Know

*Q.1  What is Pharmacology?*
Ans: Pharmacology is a branch of science that deals with the interaction of drugs with living organisms. Or The study of Pharmacokinetics and Pharmacodynamics. 

*Q.2 What is a Drug?*

Ans: A drug is any chemical entity that causes a change in biological function in a living organism.some drugs are formed inside the body such as insulin and noradrenaline etc.drugs that are introduced into the body from outside are called Xenobiotics.

*Q.3 What Is a Dose?*

Ans: A Specific Amount of Drug Prescribed to be taken at one time.

*Q.4 What Is Blood Brain Barrier?* 

It is A Tight Endothelial Cells Of the Brain Capillaries And Glial Cells Of The Brain Around The blood capillaries that doesn’t allow the passage of certain lipid insoluble substances to pass from the blood into the brain.Lipid Soluble Drugs can easily Cross This Barrier.Examples Of Lipid soluble Drugs are; Diazepam, Thiopental, And Phenobarbitol.

*Q.5 What is Volume Of Distribution?* 

Ans: The total Volume Of The Body Fluid in which a drug appears to be distributed according to its concentration in the blood or plasma.VD of a drug can be determined by the following Formula, 
VD (Volume OF Distribution) =Total Amount OF Drug In the Body/Concentration of drug in the blood plasma.

*Q.6 What Is Potency?* 

Ans: It is the weight of the drug that produces a certain magnitude of response.For Example Lesser the weight of drug required to produce a given effect, more its potency.Also More the weight of the drug required to produce the same effect lesser its potency.e.g Clonidine Produce its antihypertensive effect in 0.2-0.3mg Daily Dose.While Antihypertensive dose of methyldopa is 500-2000mg Per Day.Thus Clonidine IS more Potent than methyldopa.

*Q.7 What Is Efficacy?* 

Ans:If the dose of a drug is increased its effect will be increased proportionately, until a stage is reached beyond there is no further increase in effect will occur,even if a large dose of drug is given.thix maximum effect of drug beyond which no further increase in its effect occurs even if the dose of the drug is increased to a large amount is called efficacy or maximal efficacy.example morphine has more efficacy than aspirin as an analgesic .morphine is more effective in the severe type of pains while aspirin is effective in mild to moderate pain.

*Q.8 What is Therapeutic index?*

The ratio between median toxic dose (TD50) and median effective dose (ED50) is called therapeutic index. 
Therapeutic index= TD50/ED50

*Q.9 What is idiosyncrasy?*
 
It is a rare type of response to a drug that is not related to its dose, that is, even a small dose can cause it.For example.A rare adverse effect with chloramphenicol is aplastic anemia. 

 *Q.10 What is Hypersensitivity?*
 
An allergic or immunological response to a drug .for example anaphylactic shock with penicillin is a severe type of hypersensitivity reaction.

*Q.11 What is Tolerance?*

Ans: Repeated use of a drug causes a gradual decrease in the response to the drug.e.g chronic use of morphine will decrease many of its effects in the body, therefore the dose of the drug has to be increased with the passage of time to maintain the usual effects of the drug.

*Q.12 What is a Receptor?*
 
Ans: Receptor is a macromolecule (Big molecule).Most of the receptors are protein in nature.mostly those drugs that act on the cells bind to the receptors.Those drugs which bind to the receptor and show their effect are called agonists.While some drugs bind to the receptor but don’t produce an effect.These drugs are known as an antagonist as they prevent the binding of agonists with the receptors.

 *Q.14 What is the adverse drug reaction?*

Drugs may produce two types of effect i.e Useful effects and harmful effects.harmful effects are also known as adverse drug reaction or undesired effects.These effects may range from the mild type of adverse effect to severe effects that may cause a death of the person.
Adverse drug reaction may be classified into the folfollow types; 
Idiosyncrasy 
Drug allergy 
Direct toxic effect 
Drug dependence 
Tolerance

 *Q.15 What is Shock?*
 
It is a clinical condition in which there is an inadequate supply of blood to tissues.it causes hypotension, oliguria, and metabolic acidosis.Following are the common types of shock: 
A. Hypovolemic shock 
B. Septic shock 
C. Cardiogenic shock 
D. Anaphylactic shock

*Q.16 What is Drug Clearance?*

Ans: It Can be defined as Volume Of blood or plasma cleared of the drug in a unit period of time.Thus, to determine clearance we have to find that volume of blood or plasma from which a drug is removed during a unit period of time.By removal of drug we mean metabolism and excretion of drug.if we know the clearance of a drug we can adjust its dose properly.clearance of the drug can be determined by the following formula. 
Cl: Rate of elimination/Concentration of drug in the blood 
Where is Cl is clearance?

 *Q.17 What is Drug Excretion?*
 
Ans: Removal of drugs from the body is known as their excretion.Drugs are excreted from the body either in the form of their metabolites or in unchanged form.Excretion can occur from the following routes; 
A) Faecal 
B) Renal 
C) Biliary 
D)Pulmonary 
E)Others like to sweat, saliva, milk etc

 *Q.18 What is Toxicology?*
 
It is an aspect of pharmacology that deals with the adverse effects of drugs on living organisms .in addition to drugs used in therapy, it also deals with many other chemicals that may be responsible for the household, environmental, or industrial intoxication.

 *Q.19 What is antidote?*
 
Ans: Antidotes are Any Substance which Is Used To oppose the effects of poisons without causing any damage to The body. Example antidote for benzodiazepine is flumazenil.

*Q.20 What is Bioavailability?*
It can be defined as a fraction of unmodified drug reaching into the systemic circulation after it is administered by any route.IV administration of drug produces 100% bioavailability as a whole of the drug enters the systemic circulation.Oral administration of the drug may not produce 100% bioavailability due to incomplete absorption of a drug from the Gastrointestinal tract and due to first pass effects of some of the drugs.

Answer the following question..

Treatment of Hyperkalemia

Rule of 15 for Syncope

Branches of Descending Arota

Causes of Microcytic Anemia

10 Must know side effects of Beta Blockers

Antidiabetic drug classes

Adverse effects of Antineoplastic Agents

Adverse Effects

The prominent adverse effects of antineoplastic drugs are exerted on rapidly proliferating normal tissues, 

in addition, to their chronic and cumulative toxicities.

 • Bone marrow toxicity: Bleomycin, L-asparaginase.

 • Hair follicle toxicity: Methotrexate, Vincristine, Cyclophosphamide, and Doxoroubicin.

 • Hepatotoxicity: Azathiopurine, Mercaptopurine, and L-asparaginase.

 • Skin rashes: Vinca alkaloids, Nitrosourea, Anthracyclins, and Mitomycin C.

 • Pulmonary toxicity: Bleomycin, Methotrexate, and Busulfan.

 • Cardiac toxicity: Doxorubicin, Daunorubicin, and Anthracyclins.

 • Other toxicities: Intestinal epithelium, central nervous system (CNS) toxicity, nephrotoxicity, immuno￾suppression, fever, anaphylaxis, cataracts, haemolytic anaemia, pancreatitis, pituitary insuffi ciency, adrenal insufficiency, coagulation problems, suppression of growth, and carcinogenicity

Periodic table questions can be important

✅PERIODIC TABLE Questions can be important..


*Most abundant element on earth's crust - Oxygen

*Most abundant metal in earth's crust - Aluminium

*Most abundant metalloid in earth's crust - Silicon

*Most abundant element in atmosphere - Nitrogen

*Most abundant element in the universe - Hydrogen

*Most abundant element in human body - Oxygen

*Most abundant gas in atmosphere - Nitrogen

*Most abundant element in sea water - Chlorine

*Most abundant element in moon's surface - Titanium

*Most abundant metal present in human body and bones - Calcium

*Most abundant metal compound in bones - Calcium phosphate

*Most abundant compound on earth's surface - Water (H2O)

*Most abundant compound in sea water - Sodium Chloride

*Second most abundant compound in sea water - Magnesium Chloride

*Most chemically reactive element - Fluorine

*Second most chemically reactive element - Chlorine

*The lightest and simplest element - Hydrogen

*The lightest metal - Lithium

*The rarest element in the earth - Astatine

*The heaviest element - Osmium

*The heaviest gaseous element - Radon

*First man made element - Technetium

*Most stable element - Lead

*The periodic table is divided into 4 main blocks
*S block - elements of group 1 and 2
*P block - elements of group 13 to 18
*D block - elements of group 3 to 12
*F block - Lanthanides and Actinides

*The shortest period of the periodic table
Ans : First period

*The longest period of the periodic table
Ans : Sixth period

*Elements with atomic number 57-71 are known as
Ans : Lanthanides (rare earths)

*Elements with atomic number 89-103 are known as
Ans : Actinides (radio active rare earths)

*Total number of elements in periodic table
Ans : 118

*The number of naturally occurring elements
Ans : 92

Layers of the Scrotum

Layers of the scrotum:

Some Damn Engineers Call It The TesTes

S Skin
D Dartos fascia and muscle
E External spermatic fascia
C Cremasteric fascia
I Internal spermatic fascia
T Tunica vaginalis
T Tunica albuginea

Mechanisms of Heparins

Mechanisms of Heparins / LMWHs / Fondaparinux

1. Unfractionated heparin (UFH)

- Inhibits both factor Xa and thrombin

2. Low-molecular-weight drugs

- Preferentially inhibit factor Xa (eg. enoxaparin)

3. Fondaparinux

- Inhibits factor Xa only (with antithrombin activation)

Brainbridge Reflex

Bainbridge Reflex

HR increases when atrial pressure increases as during inspiration ➔ increased venous return ➔ sinus arrhythmia on #ECG

Drugs that cause Ototoxicity

Drugs that Cause Ototoxicity

            CALM

C - Cisplatin, carboplatin

A - Aspirin (high doses)

L - Loop diuretics

M - Microbial; macrolides (high doses); vancomycin and aminoglycosides.

Beta-blocker overdose

Beta-blocker overdose

Bradycardia
Hypotension
Hypoglycemia
Hypothermia

Reverse with glucagon, dobutamine/milrinone

#USMLE #Cardiology

Side effects of Clozapine

Side Effects of Clozapine

        MASS GAIN

M - Myocarditis

A - Agranulocytosis

S - Sialorrhea

S -Seizures

+ GAIN Weight!

Side effects of Metformin

Side Effects of Metformin

            WELSH

W - Weight loss

E - Elevated blood lactate levels

L - Low vitamin B12 levels

S - Stomach: nausea, diarrhea, metallic taste

H - High levels of flatulence

Mnemonic on Hypertensive drugs

Antihypertensive Drugs in Pregnancy | Mnemonic!

      New Mother's Hate Labor

N - Nifedipine

M - Methyldopa

H - Hydralazine

L - Labetalol

DDX OF SPLENOMEGALY

🔘DDX of Splenomegaly :🔻
🛑Infection
🛑 Congestion  :
     ✺ CHF
🛑 Haemolytic Anaemia
🛑 Storage ddisease :
    ✺Glycogen Storage disease
    ✺Lipidosis
🛑 Neoplasm :
    ✺leukemia
    ✺lymphoma
🛑Rheumatological ➡️ SLE

Phobia

⛳️ 😱Phobia😱

Acrophobia= Fear of height.

Agoraphobia= fear of open places.

Algophobia/Dynophobia= fear of pain.

Accousticophobia= Fear of noise.

Androphobia= Fear of men.

Gynaecophobia= Fear of women.

Anthrophobia= Fear of flowers.

Anglophobia= fear of English and English related things.

Xenophobia= Fear of anything stranger or foreign.

Arachnophobia= Fear of spiders.

Cacophobia= Fear of ugliness.

Carcinophobia= Fear of cancer.

Chromophobia= Fear of colour.

Claustrophobia= Fear of closed place.

Demophobia= Fear of people.

Enchlophobia= Fear of crowd.

Gametophobia= Fear of marriage.

Haematophobia= Fear of blood.

Helminthophobia= Fear of insects.

Terms you should know

*1. Anaemia - Deficiency of haemoglobin in the blood*
*2. Analgesic - Medicine which alleviates pain*
*3. Arthralgia -Pain in a joint*
*4. Cephalalgia - Headache*
*5. Nephralgia - Pain in the kidney*
*6. Neuralgia - Nerve pain*
*7. Myalgia - Muscle pain*
*8. Otalgia - Ear ache*
*9. Gastralgia - Pain in the stomach*
*10. Pyoderma - Skin infection with pus formation*
*11. Leucoderma -Defective skin pigmentaion*
*12. Hysterodynia - Pain in the uterus*
*13. Hysterectomy - Excision of the uterus*
*14. Nephrectomy - Excision of a kidney*
*15. Adenectomy - Excision of a gland*
*16. Cholecystectomy - Excision of gall bladder*
*17. Thyroidectomy - Excision of thyroid gland*
*18. Arthritis - Inflammation of a joint*
*19. Bronchitis - Inflammation of the bronchi-bymms-bhati*
*20. Carditis - Inflammation of the heart*
*21. Cervicitis - Inflammation of the cervix*
*22. Colitis - Inflammation of the colon*
*23. Colpitis - Inflammation of the vagina*
*24. Cystitis - Inflammation of the urinary bladder*
*25. Enteritis - Inflammation of the intestines*
*26. Gastritis - Inflammation of the stomach*
*27. Glossitis - Inflammation of the tongue*
*28. Hepatitis - Inflammation of the liver*
*29. Laryngitis - Inflammation of the larynx*
*30. Metritis - Inflammation of the uterus*
*31. Myelitis - Inflammation of the spinal cord*
*32. Nephritis - Inflammation of the kidney*
*33. Pharyngitis - Inflammation of the pharynx*
*..Mms Bhati Jpr*
*34. Blepharitis -Inflammation of the eyelids*
*35. Cholelithiasis - Stone in the gall bladder*
*36. Nephrolithiasis - Stone in the kidney*
*37. Osteomalacia - Softening of bones through deficiency of calcium or D vitamin*
*38. Adenoma -Benign tumour of glandular tissue*
*39. Myoma - Tumour of muscle*
*40. Diplopia - Double vision*
*41. Thrombosis - Formation of a blood clot*
*42. Pyloromyotomy - Incision of pyloric sphincter muscle*
*43. Hedrophobia - Fear of water(Rabies in humans)*
*44. Neuroplasty- Surgical repair of nerves*
*45. Pyloraplasty -Incision of plastic pylorus to widen passage*
*46. Hemiplegia - Paralysis of one side of the body*
*47. Nephroptosis - Downward displacement of the kidney*
*48. Amenorrhoea - Absence of menstrual discharge*
*49. Dysmenorrhoea - Painful menstruation*
*50. Leucorrhoea - Whitish vaginal discharge*
*51. Menorrhoea - Menstrual bleeding*
*52. Haemorrhage- Escape of blood from a vessel*
*53. Arrhythmia -Any deviation of normal rhythm of heart*
*54. Cholestasis - Diminution in the flow of bile*
*55. Haemostatis - Arrest of bleeding*
*56. Neurasthenia - Nervous debility*
*57. Cystostomy - Surgical opening made into the bladder*
*58. Cystotomy - Incision into the urinary bladder*
*59. Hypertrophy - Increase in the size of tissues*
*60. Haematuria - Blood in the urine*
*61. Glycosuria - Presence of sugar in the urine*
*62. Albuminuria - Presence of albumin in the urine*

About Patient Care

(Patient Care)

Refers to the:-
🔹 prevention, treatment, and management of illness

🔹 preservation of physical & mental well-being through services offered by health professionals.

🔹 It includes listening to, informing and involving patients in their care.
🔹 Providing care that is respectful of, and responsive to, individual patient preferences, needs and values.

🔹 Ensuring that patient values guide all clinical decisions. 

About Noonan Syndrome

What is Noonan Syndrome?

Noonan syndrome is a disorder that involves unusual facial characteristics, short stature, heart defects present at birth, bleeding problems, developmental delays, and malformations of the bones of the rib cage.

Noonan syndrome is caused by changes in one of several autosomal dominant genes. A person who has Noonan syndrome may have inherited an altered (mutated) gene from one of his or her parents, or the gene change may be a new change due to an error carried by the egg or sperm or occurring at conception. Alterations in four genes - PTPN11, SOS1, RAF1 and KRAS - have been identified to date.

Noonan syndrome is present in about 1 in 1,000 to 1 in 2,500 people.

What are the symptoms of Noonan Syndrome?

Symptoms of Noonan syndrome may include the following:

• A characteristic facial appearance.
• Short stature.
• Heart defect present at birth (congenital heart defect).
• A broad or webbed neck.
• Minor eye problems such as strabismus in up to 95 percent of individuals.
• Bleeding problems such as a history of abnormal bleeding or bruising.
• An unusual chest shape with widely-spaced and low set nipples.
• Developmental delay of varying degrees, but usually mild.
• In males, undescended testes (cryptorchidism).

How is Noonan syndrome diagnosed?

The diagnosis of Noonan syndrome is based on the person's clinical symptoms and signs. The specialist examines the person looking for the specific features of Noonan syndrome.

Individuals who have Noonan syndrome have normal chromosome studies. Four genes - PTPN11, SOS1, RADF1and KRAS - are the only genes that are known to be associated with Noonan syndrome. Approximately 50 percent of individuals with Noonan syndrome have mutations in the PTPN11 gene. Twenty percent of those with Noonan Syndrome have mutations in the SOS1. Mutations in the RAF1 gene account for between 10 and 15 percent of Noonan syndrome cases. About 5 percent of people with Noonan syndrome have mutations in the KRAS gene and usually have a more severe or atypical form of the disorder. The cause of Noonan syndrome in the remaining 10 to 15 percent of people with this disorder is not yet known. .

Symptoms of Noonan syndrome may include the following:

• A characteristic facial appearance.
• Short stature.
• Heart defect present at birth (congenital heart defect).
• A broad or webbed neck.
• Minor eye problems such as strabismus in up to 95 percent of individuals.
• Bleeding problems such as a history of abnormal bleeding or bruising.
• An unusual chest shape with widely-spaced and low set nipples.
• Developmental delay of varying degrees, but usually mild.
• In males, undescended testes (cryptorchidism).

What is the treatment for Noonan syndrome?

Treatment for individuals who have Noonan syndrome is based on their particular symptoms. Heart problems are treated in the same way as they are for individuals in the general population. Early intervention programs are used to help with developmental disabilities, when present. Bleeding problems that can be present in Noonan syndrome may have a variety of causes and are treated according to their cause. Growth problems may be caused by lack of growth hormone and may be treated with growth hormone treatment. Symptoms such as heart problems are followed on a regular basis.

Is Noonan syndrome inherited?

Noonan syndrome is inherited in families in an autosomal dominant pattern. This means that a person who has Noonan syndrome has one copy of an altered gene that causes the disorder. In about one-third to two-thirds of families one of the parents also has Noonan syndrome. The parent who has Noonan syndrome has a 1 in 2 (50 percent) chance to pass on the altered gene to a child who will be affected; and a 1 in 2 (50 percent) chance to pass on the normal version of the gene to a child who will not have Noonan syndrome. In many individuals who have Noonan syndrome, the altered gene happens for the first time in them, and neither of the parents has Noonan syndrome. This is called a de novo mutation. The chance for these parents to have another child with Noonan syndrome is very small (less than 1 percent).

FDA Approves PI3K Inhibitors for Breast Cancer

The impact of PI3K inhibitors on breast cancer cell and its tumor microenvironment

The FDA has approved Piqray (alpelisib, Novartis) tablets, to be used in combination with FDA-approved endocrine therapy fulvestrant, to treat postmenopausal women and men with hormone receptor (HR)-positive, human epidermal growth factor receptor 2 (HER2)-negative, PIK3CA-mutated, advanced or metastatic breast cancer.

The FDA also approved a companion diagnostic test, therascreenPIK3CA RWG PCR kit, to detect the PIK3CA mutation in a tissue or liquid biopsy. If a patient’s samples return a negative result from the test, they should also undergo a tumor biopsy for PIK3CA mutation testing.


"Piqray is the first PI3K inhibitor to demonstrate a clinically meaningful benefit in treating patients with this type of breast cancer. The ability to target treatment to a patient's specific genetic mutation or biomarker is becoming increasingly common in cancer treatment, and companion diagnostic tests assist oncologists in selecting patients who may benefit from these targeted treatments," said Richard Pazdur, M.D., director of the FDA's Oncology Center of Excellence and acting director of the Office of Hematology and Oncology Products in the FDA's Center for Drug Evaluation and Research.

Piqray’s efficacy was studied in a SOLAR-1 trial, randomized with 572 postmenopausal women and men with HR-positive, HER2-negative advanced or metastatic breast cancer whose cancer had progressed while taking, or after taking, an aromatase inhibitor. According to a press release, the results showed that the addition of Piqray to fulvestrant significantly prolonged the progression-free survival of patients whose tumors had a PIK3CA mutation.

Common side effects of PIqray include high blood sugar levels, an increase in creatinine, diarrhea, rash, a decrease in lymphocyte count, elevated liver enzymes, nausea, fatigue, an increase in lipase, decreased appetite, stomatitis, vomiting, weight loss, low calcium levels, prolonged aPTT, and hair loss.

Healthcare professionals should monitor patients for hypersensitivity reactions and are advised to not initiate treatment in patients with a history of severe skin reactions such as Stevens-Johnson syndrome, erythema multiforme, or toxic epidermal necrolysis. The safety of Piqray in patients with Type 1 or uncontrolled Type 2 diabetes has not been established at the time of this announcement.

Prior to treatment initialization, healthcare professionals should check fasting glucose and HbA1c, and to optimize glycemic control. Throughout treatment, patients should be monitored for the development of pneumonitis/interstitial lung disease and diarrhea

Novartis' breast cancer treatment wins FDA approval

(Reuters) - The U.S. Food and Drug Administration (FDA) said on Friday that it had approved Novartis AG’s treatment in combination with a hormone therapy for postmenopausal women, as well as for men, with a form of advanced breast cancer.

The drug, alpelisib, to be marketed under the brand name Piqray, belongs to a class of drugs known as PI3K inhibitors and is the first of its kind to be approved, the FDA said in a statement.
“Piqray is the first PI3K inhibitor to demonstrate a clinically meaningful benefit in treating patients with this type of breast cancer,” the FDA said.

The combination therapy has been approved to treat hormone receptor positive, HER2-negative breast cancer with mutations of the PIK3CA gene and was fast-tracked under a type of FDA’s pilot program.

Although PIK3CA mutations are the most common genetic change in hormone-receptor positive breast cancer, trials of agents seeking to put a brake on this pathway to tumor growth have largely disappointed so far.

Roche Holding AG, one of the world’s biggest producer of cancer drugs, scrapped its experimental PI3K inhibitor, taselisib, last year, citing limited benefits and serious side effects with the drug.

Nonsteroidal anti-inflammatory drugs safe for acute myopericarditis

Use of high-dose ibuprofen and aspirin is safe for acute myopericarditis patients with normal left ventricular ejection fraction (LVEF), a study has found.

Researchers examined the medical records of 60 patients with myopericarditis who received standard heart failure therapy if indicated. There were 29 patients (62 percent; mean age, 34 years; 13 percent female; mean LVEF, 56 percent) who received NSAIDs—acetylsalicylic acid at an average daily dose of 1,300 mg or ibuprofen at an average daily dose of 1,500 mg for an mean duration of 4 weeks.

Compared with patients treated with NSAIDs, those who were not treated were older and had lower LVEF. Late gadolinium enhancement at 3 months decreased in 82 percent of the patients (14 of 17) treated with NSAIDs and in 58 percent (7 of 12) of those without NSAIDs (p=0.15).

One adverse event (3 percent) occurred in the NSAID group. The patient had an asymptomatic episode of nonsustained ventricular tachycardia on 48-hour Holter at 3-month follow-up, which lasted for 9 beats. In this case, the initial LVEF was 56 percent and follow-up MRI showed a decrease in late gadolinium enhancement.

The findings indicate that NSAIDs are a valid and safe treatment option in the setting of acute myopericarditis, researchers said.

The study is said to be the first to assess the effect of NSAIDs in myocarditis on top of standard heart failure therapy in humans. However, it is limited by the small sample size, researchers said. Large randomized clinical trials are needed to test NSAIDs prospectively for efficacy.

Cefixime

Cefixime is a beta-lactamase stable third generation cephalosporin, which is a semi synthetic compound and was the first orally active and effective antibiotic with longest half life. It is used to treat the bacterial infection of the lungs, urinary tract and ear and it is stops the growth of bacteria in the body. It was the first antibiotic manufactured synthetically on a large scale. The original indication of Cefixime was in the treatment of typhoid.

Current use of Cefixime:

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Cefixime is given by oral route in the treatment of susceptible infections which contains gonorrhea, urinary tract, pharynsitis and otitis mediainfection.

Cefixime Dosage:

Take cefixime exactly as prescribed by your doctor. Follow the directions on your prescription label carefully.The cefixime dose your doctor recommends will be based on (use any or all that apply):
• the condition being treated
• other medical conditions you have
• other medications you are taking
• how you respond to this medication
• your kidney function
• your weight

The recommended dose for cefixime in adults is 400 mg once a day or divided into two doses (200 mg each dose).
The recommended dose range for cefixime in children (weighing 44 kg or less or are 12 years of age or less) is 8 mg/kg once a day or 4 mg/kg twice a day.

Side Effects of Cefixime:

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Common side effects of cefixime includes:
• Rrash,
• Diarrhea,
• Nausea,
• Loose stools,
• Upset stomach.
This is not a complete list of cefixime side effects. Ask your doctor or pharmacist for more information.