Saturday, 30 March 2013


Chromosome 1: Rh system / neuroblastoma
Chromosome 2: Cystinuria/hypobetalipoproteinemia
Chromosome 4: Huntingtons chorea/achondroplasia/parkinsons disease
Chromosome 5: FAP/colorectal carcinoma/cri-du-chat syndrome
Chromosome 6: HLA system(short arm) /MHA antigen/DM
Chromosome 7: Cystic fibrosis
Chromosome 8: Osteoporosis
Chromosome 9: ABO blood group / friedreich’s ataxia
Chromosome 10: Apert syndrome Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type 1 Charcot-Marie-Tooth disease, type 4 Cockayne syndrome congenital erythropoietic porphyria Cowden syndrome Crouzon syndrome Hirschprung disease multiple endocrine neoplasia type 2 Pfeiffer syndrome porphyri Usher syndrome Usher syndrome type I Wolman syndrome
Chromosome 11: Sickle cell anaemia/beta thallasemia/wilms tumour/MEN -1/ataxia telengiectasia/human insulin gene/PTH gene
Chromosome 12: PKU/vWF/CA testes
Chromosome 13: Retinoblastoma/osteosarcoma/wilsons ds
Chromosome 14: Familial HOCM/ alpha 1 antitripsin deficiency
Chromosome 15: Marfan’s syndrome/albinism/pradder willi syndrome/angelman syndrome
Chromosome 16: Alpha thallasemia/adult PKD
chromosome 17: Carninoma breast(BRCA1)/medulloblastoma/neurofibromatosis-1/ovarian tumour/ P 53 gene
Chromosome 18: Erythropoietic protoporphyria hereditary hemorrhagic telangiectasia Niemann-Pick disease/Type C porphyria Selective Mutism Edwards syndrome (Trisomy 18)
Chromosome 19: Myotonia dystrophica/gene for insulin receptor
Chromosome 20: MODY type 1 DM/prions disease
Chromosome 21: Homocystinuria/amyloidosis…folic acid transport..
Chromosome 22: Meningioma/acoustic neuroma/NF -2/Di-George syndrome
Chromosome Xq: Gene for androgen insensitivity syndrome/ fragile X syndrome/ Testicular feminisation/ X-SCID/ X linked agaamaglobulinemia/ Fabry ds/ Lesch- Nyhan/ Hemophilia B/ Hemophilia A/ Hunter syndrome/ G6PD deficiency
Chromosome Xp – Ocular albinism/ Chr Granulomatous Ds/ DMD/ Menkes syndrome

Child-Pugh Classification of Cirrhosis

Cystic neoplasm of pancreas

Cystic neoplasms of pancreas include:
1. Serous cystic neoplasms (30%)
2.Mucinous cystic neoplasm (50%)
3. Intraductal papillary mucinous neoplasm
Serous cystic neoplasms (SCN)
Mean Age:62years
Site:Head of pancreas
Macroscopy:Small spongy clusters of clear cysts <2cms
CT scan: 1. Central sunburst/stellar scar appearance 2. Each cluster resembles BUNCH OF GRAPES 3. HONEYCOOMB appearance
Mucinous cystic neoplasm (MCN)
Mean Age: 53 years
Site:Body and uncinate process
Macroscopy: Large cysts >2cms (~ 6 in number)
CT scan:Papillary invaginations into cyst (ovarian stroma +)
Intraductal papillary mucinous neoplasm (IPMN)
Mean Age:63yrs
Site:Head of pancreas tail of pancreas
Macroscopy:Pancreatic duct dilatation
CT scan:Fish mouth sign
SCN and MCN common in females and IPMN common in males.

The body fat percentage

The body fat percentage of a person is the total weight of fat divided by total weight; body fat includes essential body fat and storage body fat. Essential body fat is necessary to maintain life and reproductive functions. The percentage of essential body fat for women is greater than that for men, due to the demands of childbearing and other hormonal functions. The percentage of essential fat is 3–5% in men, and 10-16% in women.
American Council on Exercise recommends the following percentages:
For Females
Essential fat-->10–13%
For Males
Essential fat--->2–5%

Friday, 29 March 2013

Shoulder Ligaments

The Coracoclavicular ligament is largely responsible for suspending the weight of the scapula and upper limb from the clavicle. This very strong ligament extends from the coracoid process to the under-surface of the clavicle as the name suggests.
Functions of the different ligaments at the shoulder joint are as follows:
1.Coracoclavicular ligament: Extends from coracoid process to the under-surface of the clavicle Action: Responsible for suspending the weight of the scapula and upper limb from the clavicle.
2.Coracoacromial ligament: Extends between coracoid process and acromion. Action: Protects superior aspect of the joint
3.Coracohumeral ligament: Extends from root of the coracoid process to greater tuberosity of humerus. Action: Strengthens the capsule above.
4.Costoclavicular ligament: Extends from junction of first rib with first costal cartilage to inferior surface of sternal end of clavicle.

Few points regarding Human chorionic gonadotropin

• hCG can be detected in maternal urine after 7-8days of ovulation
• The rapidly rising hCG seen between 3-4 and 9-10 weeks gestation coincides with the proliferation of immature trophoblastic villi and the extent of the syncytial layer
• Plasma levels increase, doubling in concentration every 2-3 days between 60 and 90 days of gestation.
•Failure of hCG doubling with time. This suggests the presence of an anviable or ectopic pregnant or threatened miscarriage.
• The average peak hCG level is approximately 110,000 mIU/mL and occurs at 10 weeks gestation
• Between 12 and 16 weeks, average hCG decreases rapidly with the concentration
•Levels continue to fall from 16 to 22 weeks at a slower rate.
•During the third trimester mean hCG levels rise in gradual, yet significant, manner from 22 weeks until term.
•hCG levels are comparatively higher in women bearing female fetuses.
•Human chorionic gonadotropin may stimulate steroidogenesis in the early fetal testes resulting in virilization and sexual differentiation in males


� Bird's Beak deformity of lower oesophagus - Achalsia cardia (Barium Swallow)
� Rat tail tapering of lower oesophagus - Carcinoma oesophagus (Barium Swallow)
� Cork screw oesophagus-- Diffuse oesophageal spasm (Barium Swallow)
� Commonest radiological appearance of gastric carcinoma (in barium meal follow through) is - filling defect in antrum / body of stomach
� Trifoliate duodenum - Chronic duodenal ulcer with scarring (Barium Meal)
� Hour Glass stomach - Peptic ulcer
� Cup & Spill / Cascade stomach - Volvulus of stomach
� Constriction of transverse duodenum - superior mesenteric artery syndrome
� Bull's eye lesion (in barium meal) - Leiomyosarcoma
� Single-bubble appearance - pyloric stenosis
� Double-bubble sign--Duodenal atresia, duodenal stenosis, annular pancreas
� Triple-bubble sign - Jejunal atresia
� Coffee bean sign--Strangulation of incompletely obstructed loop of small intestine
� String of Beads - Small bowel obstruction
� Coiled spring appearance - Intussusception
� Pincer-shaped ending in barium enema--Intussusception
� Bird of Prey sign - Sigmoid volvulus
� Moulage sign (flocculation of barium, with mucosal thickening) -- malabsorption syndrome
� String sign of Cantor--Crohn's disease
� Pipe-stem appearance (Loss of Haustrations)- Ulcerative Colitis (Barium Enema)
� Saw-tooth appearance and / or diverticula - Diverticular disease /Diverticulosis (Barium Enema)
� Scalloping of edge of sigmoid colon on barium enema - Ulcerative colitis
� Napkin ring sign - Annular carcinoma of colon
� Porcelain gall bladder -Carcinoma of gall bladder
� Pad sign - Carcinoma pancreas (Barium Meal) ERCP
� Scrambled Egg appearance - Carcinoma of pancreas
� Chain of Lakes appearance - Chronic pancreatitis
� Double duct sign - Carcinoma of Pancreas
� Meniscus sign -- Choledocholithiasis

Info: O Blood Group and Peptic Ulcer Disease

•O positive is the most common blood type.
•The most common cause of Peptic Ulcer is infection of the stomach by bacteria called Helicobacter pylori (H.pylori).
•Helicobacter pylori is known to bind to the O blood-group structure (a particular series of sugars) present on gastric epithelial cells (a person who is O-positive is about twice as likely to develop stomach ulcers relative to O-negative persons


1. Aclidinium bromide: An anticholinergic with specificity for muscarinic receptors. It has similar affinity to the subtypes of muscarinic receptors M1 to M5. In the airways, it exhibits pharmacological effects through inhibition of M3 receptor at the smooth muscle leading to bronchodilation. It has been recently approved for COPD.
2. Ado-trastuzumab emtansine: It is a HER2-targeted antibody (trastuzumab) and microtubule inhibitor (mertansine) conjugate indicated for the treatment of patients with HER2-positive, metastatic breast cancer. Trastuzumab alone stops growth of cancer cells by binding to the HER2/neu receptor, whereas mertansine enters cells and destroys them by binding to tubulin. Because the monoclonal antibody targets HER2, and HER2 is only over-expressed in cancer cells, the conjugate delivers the toxin specifically to tumor cells. Its major adverse effects include hepatotoxicity, cardiotoxicity (reduction in left ventricular ejection fraction), and teratogenicity.
3. Alogliptin: It is a dipeptidyl peptidase-4 (DPP-4) inhibitor (like sitagliptin and vildagliptin) for the treatment of type 2 diabetes.
4. Apixaban: A factor Xa inhibitor anticoagulant indicated to reduce the risk of stroke and systemic embolism in patients with non-valvular atrial fibrillation.
5. Avanafil: It is a phosphodiesterase 5 (PDE5) inhibitor like sildenafil and is specifically indicated for the treatment of erectile dysfunction.
6. Bedaquiline: An inhibitor of mycobacterial ATP synthase indicated as a part of combination therapy in adults with pulmonary MDR and XDR tuberculosis. It ncreases QT interval and thus should not be combined with any other drug causing QT prolongation.
7. Bosutinib: It is specifically indicated for the treatment of adults with chronic, accelerated, or blast phase Philadelphia chromosome-positive (Ph+) chronic myelogenous leukemia with resistance or intolerance to prior therapy. It inhibits the Bcr-Abl kinase that promotes CML amd also inhibits the Src-family kinases.
8. Cabozantinib: It is a tyrosine kinase inhibitor approved for treatment of patients with progressive, metastatic medullary thyroid cancer. It acts as a small molecule inhibitor of the tyrosine kinases activated by c-Met and VEGFR2, and has been shown to reduce tumor growth, metastasis, and angiogenesis.
9. Carfilzomib: It is a proteasome inhibitor like bortezomib. is specifically indicated for the treatment of multiple myeloma in patients who have received at least two prior therapies including bortezomib and an immunomodulatory agent and have demonstrated disease progression on or within 60 days of completion of the last therapy.
10. Cobicistat: Is a licenced drug for use in the treatment of infection with the HIV. Like ritonavir, cobicistat is of interest not for its anti-HIV properties, but rather its ability to inhibit liver enzymes that metabolize other medications used to treat HIV, notably elvitegravir, an HIV integrase inhibitor. By combining cobicistat with elvitegravir, higher concentrations of elvitgravir are achieved in the body with lower dosing, enhancing elvitgravir's viral suppression while diminishing its adverse side-effects. In contrast with ritonavir, the only currently approved booster, cobicistat has no anti-HIV activity of its own. It is a component of the four-drug, fixed-dose combination HIV treatment elvitegravir/cobicistat/emtricitabine/tenofovir (known as the "Quad Pill").
11. Crofelemer: An oral proanthocyanidin oligomer indicated to relieve symptoms of diarrhea in HIV/AIDS patients taking antiretroviral therapy. It acts by voltage-independently blocking two structurally unrelated chloride channels in the gut, namely the cystic fibrosis transmembrane conductance regulator (CFTR) and the calcium activated channel anoctamin 1. As a result of the channel inhibition, fewer chloride ions are excreted into the gut, which also decreases the excretion of sodium ions and water, improving stool consistency and reducing duration of the diarrhoea. It is not absorbed from the gut and is consequently excreted with the stool.
12. Cysteamine hydrochloride: It is a cystine-depleting agent by converting cystine to cysteine and cysteine-cysteamine mixed disulfides and reduces corneal cystine crystal accumulation. It thus lowers the cystine content of cells in patients with cystinosis, a rare genetic disorder. It is specifically approved for the treatment of corneal cystine crystal accumulation in adults and children with cystinosis. It is supplied as an ophthalmic solution for topical administration.
13. Enzalutamide: An androgen receptor inhibitor like flutamide. It is specifically indicated for the oral treatment of patients with metastatic castration-resistant prostate cancer who have previously received docetaxel. It is an androgen receptor inhibitor that acts on different steps in the androgen receptor signaling pathway. Enzalutamide has been shown to competitively inhibit androgen binding to androgen receptors and inhibit androgen receptor nuclear translocation and interaction with DNA.
14. Everolimus: An inhibitor of mTOR (mammalian target of rapamycin), a serine-threonine kinase, downstream of the PI3K/AKT pathway. The mTOR pathway is dysregulated in several human cancers. Everolimus binds to an intracellular protein, FKBP-12, resulting in an inhibitory complex formation and inhibition of mTOR kinase activity. Inhibition of mTOR by everolimus has been shown to reduce cell proliferation, angiogenesis, and glucose uptake in in vitro and/or in vivo studies. It has recently been approved for the oral treatment of renal angiomyolipoma associated with tuberous sclerosis complex in adults who do not require immediate surgery and for oral treatment of approved for the treatment of postmenopausal women with advanced hormone receptor-positive, HER2-negative breast cancer (advanced HR+ BC) in combination with exemestane, after failure of treatment with letrozole or anastrozole.
15. Ingenol mebutate: It is an inducer of apoptosis and is specifically indicated (topical gel formulation) for the topical treatment of actinic keratosis of the face, scalp, trunk and extremities.. The mechanism of action by which it induces cell death in treating actinic keratosis lesions is unknown.
16. Ivacaftor: It is a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator. Cystic fibrosis is caused by mutations in a gene that encodes for the CFTR protein that regulates ion (such as chloride) and water transport in the body. The defect in chloride and water transport results in the formation of thick mucus that builds up in the lungs, digestive tract and other parts of the body leading to severe respiratory and digestive problems. It is specifically approved for the treatment of cystic fibrosis in patients age 6 years and older who have a G551D mutation in the CFTR gene.
17. Linaclotide: It is specifically indicated for the oral treatment of adults with irritable bowel syndrome with constipation and for adults with chronic idiopathic constipation. It is a guanylate cyclase-C (GC-C) agonist. Activation of GC-C results in an increase in both intracellular and extracellular concentrations of cyclic guanosine monophosphate (cGMP). Elevation in intracellular cGMP stimulates secretion of chloride and bicarbonate into the intestinal lumen, resulting in increased intestinal fluid and accelerated transit.
18. Lomitapide: It is indicated for the treatment of patients with homozygous familial hypercholesterolemia. It acts by inhibiting the microsomal triglyceride transfer protein (MTP or MTTP) which is necessary for very low-density lipoprotein (VLDL) assembly and secretion in the liver.
19. Lorcaserin hydrochloride: It is a serotonin 2C receptor agonist. It has been shown to decrease food consumption and promote satiety by selectively activating serotonin 2C receptors in the brain. It is is specifically indicated as an adjunct to a reduced-calorie diet and increased physical activity for chronic weight management in clinically obese adults (BMI of 30 kg/m2 or greater) and overweight adults (BMI of 27 kg/m2 or greater) with at least one weight-related comorbid condition.
20. Lucinactant: A synthetic formulation of pulmonary surfactant. Endogenous pulmonary surfactant lowers surface tension at the air-liquid interface of the alveolar surfaces during respiration and stabilizes the alveoli against collapse at resting transpulmonary pressures. A deficiency of pulmonary surfactant in premature infants results in respiratory distress syndrome (RDS). Lucinactant is specifically indicated by intratracheal route for the prevention of respiratory distress syndrome (RDS) in premature infants at high risk for RDS.
21. Mipomersen: An anti-sense oligonucleotide inhibitor of mRNA of apolipoprotein B-100 synthesis indicated for the treatment of patients with homozygous familial hypercholesterolemia. It is administered as a weekly injection.
22. Mirabegron: It is aselective beta-3 adrenoceptor (Beta3-AR) agonist. The drug activates Beta3-ARs on the detrusor muscle of the bladder to facilitate filling of the bladder and storage of urine. It is specifically indicated for the oral treatment of overactive bladder (OAB) with symptoms of urge urinary incontinence, urgency, and urinary frequency.
23. Ocriplasmin: It is an alpha-2 antiplasmin reducer. It is a truncated form of the natural human protein plasmin. Ocriplasmin has proteolytic activity against protein components of the vitreous body and the vitreoretinal interface, thereby dissolving the protein matrix responsible for the vitreomacular adhesion. It is specifically indicated for the treatment of symptomatic vitreomacular adhesion by intravitreal injection.
24. Omacetaxine: It is a first-in-class small molecule drug for the treatment of adult patients with chronic or accelerated phase CML. It inhibits protein translation by preventing the initial elongation step of protein synthesis. It interacts with the ribosomal A-site and prevents the correct positioning of amino acid side chains of incoming aminoacyl-tRNAs.
25. Ospemifene: It is a SERM indicated for the treatment of moderate to severe dyspareunia (pain during sexual intercourse), a symptom of vulvar and vaginal atrophy due to menopause. It acts similar to estrogen the vaginal epithelium building vaginal wall thickness which in turn reduces the pain associated with dyspareunia. The boxed warning of the medication indicates that the drug may thicken the endometrium which could lead to unusual bleeding and endometrial cancer.
26. Pasireotide: An orphan drug approved for the treatment of Cushing's disease in patients who fail or are ineligible for surgical therapy. It is a somatostatin analog (like octreotide) which has a 40-fold increased affinity to somatostatin receptor 5 than other somatostatin analogs.
27. Pazopanib: It is a vascular epidermal growth factor receptor (VEGFR) tyrosine kinase inhibitor which acts at all three isoforms: VEGFR-1, VEGFR-2 and VEGFR-3. VEGF is a chemical signal produced by cells that stimulates the growth of new blood vessels. It is part of the system that restores the oxygen supply to tissues when blood circulation is inadequate. When VEGF is overexpressed, it can contribute to disease. Solid cancers need an adequete blood supply or they will not be able to grow. Hence, cancer that can express VEGF are able to grow and metastasize. It is specifically indicated for the treatment of advanced soft tissue sarcoma in patients who have received chemotherapy.
28. Peginesatide: A peptide-based erythropoiesis stimulating agent (ESA). Peginesatide binds to and activates the human erythropoietin receptor and stimulates erythropoiesis in human red cell precursors. It is specifically indicated for the treatment of anemia due to chronic kidney disease in adult patients on dialysis. It is administered i.v. or s.c.
29. Perampanel: A selective AMPA-type glutamate receptor antagonist. The AMPA receptor is widely present on most excitatory neuronal synapses and plays a role in a large number of central nervous system diseases. Perampanel is specifically indicated as oral adjunctive therapy for the treatment of partial-onset seizures with or without secondarily generalized seizures in patients with epilepsy aged 12 years and older.
30. Pertuzumab: It is a HER2/neu receptor antagonist compound. It is specifically indicated for the first-line treatment of HER2+ metastatic breast cancer in combination with trastuzumab and docetaxel. It has been shown to augment anti-tumor activity as a complement to trastuzumab, as the two medicines target different regions on the HER2 receptor. It is administered as intravenous infusion.
31. Pomalidomide: A thalidomide analogue indicated for the treatment of patients with relapsed and refractory multiple myeloma. It has anti-angiogenic and immunomodulatory properties. It directly inhibit both the tumor cell and vascular compartments of myeloma cancers. This dual activity of pomalidomide makes it more efficacious than thalidomide in vitro and in vivo.
32. Ponatinib: Inhibitor of tyrosine kinase activated by abl-bcr fusion. It is indicated for CML and Philadelphia positive ALL.
33. Raxibacumab: A human monoclonal antibody indicated for the prophylaxis and treatment of inhalational anthrax. It targets the protective antigen (PA) component of the lethal toxin of Bacillus anthracis.
34. Regorafenib: It is specifically approved for the treatment of patients with metastatic colorectal cancer who have been previously treated with fluoropyrimidine-, oxaliplatin- and irinotecan-based chemotherapy, an anti-VEGF therapy, and, if KRAS wild type, an anti-EGFR therapy. It is a small molecule inhibitor of multiple membrane-bound and intracellular kinases involved in normal cellular functions and in pathologic processes such as oncogenesis, tumor angiogenesis, and maintenance of the tumor microenvironment. This distinct anti-angiogenic profile includes inhibition of both VEGFR2 and TIE2 TK.
35. Rotigotine transdermal formula: A non-ergot dopamine agonist specifically approved for the treatment of moderate-to-severe primary restless legs syndrome. The precise mechanism of action of rotigotine as a treatment for Restless Legs Syndrome is unknown but is thought to be related to its ability to stimulate dopamine receptors. The application site for rotigotine should be moved on a daily basis. It should not be applied to the same application site more than once every 14 days.
36. Teduglutide: It is a recombinant analog of human glucagon like peptide 2 and is used for the treatment of adults with short bowel syndrome. It works by promoting mucosal growth and possibly restoring gastric emptying and secretion.
37. Teriflunomide: An immunomodulatory agent with anti-inflammatory properties like leflunomide. It is specifically indicated for the oral treatment of relapsing forms of multiple sclerosis. It inhibits dihydroorotate dehydrogenase, a mitochondrial enzyme involved in de novo pyrimidine synthesis.The exact mechanism by which teriflunomide exerts its therapeutic effect in multiple sclerosis is unknown but may involve a reduction in the number of activated lymphocytes in CNS.
38. Tofacitinib: It is an inhibitor of Janus kinase 3 indicated for the treatment of adult patients with moderate to severe rheumatoid arthritis. It interferes with the JAK-STAT signaling pathway, which transmits extracellular information into the cell nucleus, influencing DNA transcription.
39. ziv-aflibercept: A fusion protein specifically designed to bind all forms of Vascular Endothelial Growth Factor-A (VEGF-A) and Placental Growth Factor (PlGF). Both VEGF-A and PlGF are proteins that are involved in the abnormal growth of new blood vessels. It is specifically approved in combination with 5-fluorouracil, leucovorin, irinotecan-(FOLFIRI) for patients with metastatic colorectal cancer that is resistant to or has progressed following an oxaliplatin-containing regimen. It is used i.v. Ziv-aflibercept is a recombinant fusion protein consisting of Vascular Endothelial Growth Factor (VEGF)-binding portions from the extracellular domains of human VEGF Receptors 1 and 2 fused to the Fc portion of the human IgG1. By binding to these endogenous ligands, ziv-aflibercept can inhibit the binding and activation of their cognate receptors. This inhibition can result in decreased neovascularization and decreased vascular permeability