Mixed Q’s 2 Flashcards
Duodenal atresia associations ?
Assoc with Down’s syndrome
Double bubble sign
Polyhydramnios
Bile vomiting
Oesophageal atresia is assoc with?
Polyhydramnios
Malrotation of volvulus presentation?
Asymptomatic at birth
Occurs after a few weeks
Bld in stool
Vomiting bilious material
Tender distended abdomen
Imperforate anus presentation?
Inability to pass meconium in first 24 hrs
Assoc with
cardiac abnormalities, tracheoesophageal fistulas
renal agenesis
Characteristics of anal canal above the pectinate canal?
Columnar epithelium
Superior and middles rectal arteries bld supply
Non painful haemorrhoids
Lymph drainage to internal iliac nodes
Where do haemorrhoids drain into?
Venous system
What is Li-Fraumeni syndrome?
A history of sarcoma, leukaemia, adrenal, brain and breast cancer.
2o to autosomal mutation of TP53
Cancers that cause sclerotic bone Mets ?
Osteoblastic ( sclerotic)
Prostate cancer
Small cell lung cancer
Hodgkin lymphoma
Cancers that cause lucent bone Mets?
Osteolytic (lucent)
M2N2R
Multiple myeloma
Non small cell lung cancer
Non Hodgkin lymphoma
Renal cell carcinoma
Melanoma
Cancers that cause mixed bone Mets ?
Gastrointestinal cancer
Breast cancer
BRAF is associated with ?
BRAF is a protooncogene
Mutation is assoc with
Melanoma
Non Hodgkin’s lymphoma
Papillary thyroid cancer
BRCA1 and BRAC2
Tumour suppressor gene
Mutation associated with
Breast cancer
Ovarian cancer
Pancreatic cancer
MEN1 associated protein?
Tumour suppressor
Menin
RET?
Protooncogene
Mutation associated with
MEN 2a + MEN 2b
Papillary thyroid cancer
What is RB associated protein ?
Tumour suppressor gene
associated with with HPV
Leading to
Head and neck cancer
Cervical cancer
Anal cancer
Penile cancer
What is the first step in adenoma to carcinoma sequence?
Mutation of APC tumour suppressor gene
Malignant cells metastasis pathway ?
- Down regulation of cadherin decrease cell adhesion
- Detachment from basement membrane by loosening integrin attachment
- Degradation of extracellular matrix by type IV collagenase
- Migration by upregulation non integrin Lamin receptors
- Dissemination
Hereditary nonpolyposis colon cancer?
Lynch Syndrome
MSH2 MSH1
Tumour suppressor gene
Assoc with
Colorectal cancer
Endometrial cancer
Ovarian cancer
Phosphorylation of Rb protein leads to?
Rb becomes inactive releasing the E2F transcription factor allowing cell to divide
Which zone of the liver metabolises phenytoin?
Zone 3
Annular pancreas is caused by?
Failure of pancreatic ventral bud to rotate
The pancreas and pancreatic duct are derived from?
The foregut
What is Hirschsprung’s disease?
Failure of neural crest cell migration into the intestinal wall
Hirschsprung disease presentation?
Functional bowel blockage
Neonate with chronic constipation
Tight anal sphincter and empty rectum
Rectosigmoid narrowing with proximally distended bowel loops on barium study
Failure to pass meconium, think?
Hirschsprung’s disease
Cystic fibrosis
(Imperforate anus)
What is the gold standard for diagnosis of Hirschsprung’s disease ?
Deep rectal suction biopsy —> shows lack of ganglion cells
Nerve fibre hypertrophy
What is cause of achalasia ?
Damage to ganglion cells in the myenteric plexus (Auerbach’s plexus)
Achalasia presentation?
Loss of oesophageal motility
Dysphagia for solids and liquids
Bird beak sign on barium swallow
SE of pilocarpine ?
Sweating
Urinary frequency
Diarrhoea
Bradycardia
Nausea
Weakness
Flushing
Hypotension
Pupillary Miosis
Pleomorphic adenoma presentation?
Benign
Painless, firm, mobile parotid swelling
Histology :- disorganised tissue containing epithelial and cartilage components
Warthin’s tumour presentation?
Aka papillary cytadenoma lymphatosum
Swelling of parotid
Fluid filled cystic spaces with epithelial cells
Assoc with smoking
Mucoepidermoid carcinoma presentation ?
Painful mass usually parotid
Invading facial nerve
Histo:- mix of squamous and epithelial cells
Congenital diaphragmatic hernia is due to a defect in the?
Pleuroperitoneal membrane
Direct inguinal hernia are medial to ?
Inferior epigastric artery
Indirect hernia is usually caused due to failure or which structure to close?
Processus vaginalis
Necrotising enterocolitis features?
GI emergency affecting newborns
Bacterial invasion and necrosis of the bowel wall in prems after initiation of enteral feeding.
Abdo XR :- curvilinear areas of lucency that parallel bowl wall lumen( pneumatosis intestinalis)
Acute diverticulitis presentation?
Pt > 60
Abdo pain
Nausea and vomiting
Change in bowel habit
Low grade fever
Leukocytosis
Tender mass in LT Lower quad
Acute diverticulitis presentation?
Pt > 60
Abdo pain
Nausea and vomiting
Change in bowel habit
Low grade fever
Leukocytosis
Tender mass in LT Lower quad
Diffuse oesophageal spasm presentation?
Periodic, simultaneous and non peristaltic contractions of the oesophagus due to impaired neural inhibition.
Dysphagia for liquids and solids
Chest pain 2o inefficient propulsion of food
Hepatitis B presentation?
Tender hepatomegaly and abnormal LFT
With a suggestive hx
Positive HBsAg
Hyperammonemia in advanced liver failure features?
Ammonia crosses blood brain barrier cause excess glutamine to accumulate in astrocytes. —->
Decreased glutamine available for conversion to glutamate in neurons
Abdominal distention
Jerky tremor
Innervation of external haemorrhoids?
Inferior rectal nerve a branch of the pudendal nerve
Which arteries would be affected by compression of splenic artery?
Short gastric artery
Primary sclerosing cholangitis features?
More common in males
Assoc with UC
Fatigue, pruritis, jaundice
Raised ALP , bilirubin
Histology :- fibrous obliteration of bile ducts and concentric periductal connective tissue deposition
Treatment with Vitamin B12 affect on retics in background on atrophic gastritis?
Retics count increases +++ and peaks at 1 week then gradually increases
Unconjugated excess bilirubin affect on newborn?
Deposits in basal gangilia and brain stem nuclei
Can cause irreversible neurologic damage
Chorea, dystonia
Upward gaze palsy and hearing
Pathologic features of Chronic bronchitis?
Thickened bronchial walls
Lymphocytic infiltration
Mucous gland enlargement
Patchy squamous metaplasia of bronchial mucosa
Hx of smoking
Phaechormocytoma is derived from?
Chromaffin cells of adrenal medulla
Originate from neural crest cells which also gives rise to melanocytes and neural ganglia
Cardiorespiratory response to exercise?
Incr HR
Inc C.O
Inc RR
N PaO2
N PCo2
An outlier would affect which measures ?
Mean
Median
Std deviation
Variance
It does NOT affect mode
What is mode?
The most frequently observed data point
Pyruvate dehydrogenase deficiency presentation?
Unable to convert pyruvate to acetyl-CoA
Causing lactic acidosis and neurologic defects
Failure to thrive, hypotonia
High levels of what substance in pyruvate dehydrogenase will lead to increase energy without inc in lactic acid?
Ketogenic amino acids Lysine, leucine
Mgx for chest wall pain to parietal pleura and ribs?
Intercostal nerve block
Ileal resection complications?
Gall stones 2o to loss of bile salt absorption
Fat malabsorption
Loss of vit B12 absorption
Loss of fluid absorption
Function of the HIV polyproteins?
Gp160, gp120
Glycosylated in RER and cleaved in Golgi apparatus
Function is to help virion attach to target cell
Rett syndrome features ?
More common in girls
Onset 6-18/12
Initial N development
Regression of speech
Loss of purposeful movement
Development of stereotypical movements (e.g. clapping)
Gait abnormalities
Cause —> arrested brain development
Single gene sequencing used when?
Initial genetic test for an unknown mutation on a single gene (e.g Li Fraumeni)
What facilitate phagocytosis?
IgG and C3B
Criggler- Najjar features?
Absence of UDPglucoronyltransferase
High >20 unconjugated bilirubin
Appears in first days of life
Can lead to kerniterus
LFT normal
Gilbert’s syndrome features?
Increased unconjugated bilirubin
Most asymptomatic
Can develop jaundice after illness, heavy exertion, stress, menses
Dubin Johnson syndrome features?
AR
Presents shortly after birth
Or after taking OCP, or pregnancy
Increased conjugated bilirubin
N LFTs
+/- hepatomegaly
Black discoloration of liver
Alcoholic Hepatitis features?
AST:ALT > 2
AST >= 500 -1000
GGT increased 8-10x normal
Asymptomatic
Jaundice
Hepatomegaly
Rotor’s syndrome features?
Benign condition
Conjugated hyperbilirubinaemia
N LFTs
In kernicterus bilirubin deposits where?
Basal ganglia and brain stem nuclei
Administration of omeprazole affect on gastric secretion, gastric acid secretion and parietal cell carbonic anhydrase activity?
Decreased gastric acid secretion
Inc gastrin secretion
Decreased parietal cell CA activity
How does ranitidine work?
H2 antagonist reduces acid secretion by blocking histamine activity leading to fall in intracellular cAMP
Zollinger Ellison syndrome features?
Due to gastrin producing tumour in pancreas or duodenum.
Stimulating the increase of gastric acid production
Leading to peptic ulcers
Wt loss
Abdo pain
Cause of pruritis in cholestasis?
Deposition of cholic and chenodeoxycholic
Function of pancreatic amylase?
To cleave starch into smaller polysaccharides
Initiating event of acute pancreatitis ?
Autodigestion due to activated trypsin
Released after a meal and correlated with increase HCO3?
Secretin
Which pancreatic enzyme catalyses the breakdown of a lipid rich meal?
Pancreatic lipase
Function of type II pneumocyte?
Regeneration of alveolar lining following injury
Surfactant production
‘What is transference?
Unconscious recreation of patterns from past relationships in the present relationship
Impairment of ubiquitin-proteasome system leads to ?
Accumulation of misfolded proteins can lead to Parkinson’s
What is power 1-B?
The probability of rejecting a null hypothesis when it is truly false
Nitroglycerin effect on cardiac output, contractility and venous return?
Is a venodilator —> will cause pooling of bld in veins and decreased venous return.
Does not affect contractility
CO reduced because of reduced Venous return
What is the most highly oxygenated blood vessel in fetal circulation?
Umbilical vein which empties directly into IVC
Wiskott-Aldrich syndrome presentation?
X linked
Recurrent infections that worsen with age
Easy bleeding
Eczema
Combined B Andy cell deficiency
Thrombocytopenia at birth
Endoscopic findings in achalasia?
Hypertrophy and thickening of circular muscle lawyer near lower oesphageal sphincter
Schatzki ring presentation ?
Complete obstruction of the oesophagus by a food bolus
Found in distal oesophagus