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Wednesday, May 12, 2010
vinay kumar (PATHOLOGIST)
Vinay Kumar, MBBS, MD, FRCPath
Alice Hogge & Arthur Baer Professor
Chairman, Department of Pathology
Executive Vice Dean, Division of Biological Sciences
Contact
* visit U of C Directory *
Department of Pathology
The University of Chicago
MC 3083, S329
5841 S. Maryland Avenue
Chicago, IL 60637
Phone: 773.702.0647
Fax: 773.702.9379
vkumar@bsd.uchicago.edu
Research Interests
Our laboratory is interested in the cellular and molecular biology of murine natural killer (NK) cells. These cells are believed to act as the first line of defense against tumors and viral infections. In addition they secrete a variety of cytokines including 1FN-g and GM-CSF that can influence the inflammatory response. Two aspects of NK cell biology are of particular interest to us: the development of NK cells from multipotent progenitor cells, and the identification of NK cell receptors and their ligands. Textbook Publications
Kumar V, Abbas AK, Fausto N, Aster JA. "Pathologic Basis of Disease." 8th edition, W.B. Saunders Co., 2009 in press (with translations into Spanish, Portuguese, Italian, German, Turkish and Arabic).
Kumar V, Mitchell RM, Abbas AK, Fausto N. "Basic Pathology." 8th edition, W.B. Saunders, 2007 (with translations into Spanish, Portuguese, Italian, Chinese, Japanese, Hungarian and Croatian).
Mitchell R, Kumar V, Abbas A, Fausto N. "Pocket Companion to Robbins and Cotran Pathologic Basis of Disease." 7th Edition, Elsevier Saunders, 2006.
Klatt E, Kumar V. "Robbins and Cotran Review of Pathology." 2nd Edition, Elsevier Saunders, 2005.
Kumar V, Fausto N, Abbas A. "Robbins and Cotran Pathologic Basis of Disease." 7th edition, Elsevier Saunders, 2004.
How to perform better in exams
How to perform better in exams
Tests and exams are an inevitable part of learning. They’re not there to trip you up, but to measure how well you have understood the subject. Even if you know the content well, there are ways to help yourself perform better on the day.
Before the exam
During the exam
After the exam
Some people thrive on exams, others aren’t so fortunate. A disciplined approach will make your task easier, and - hopefully - improve your results
Before the exam
Your success starts before you even sit down for the exam.
Look at previous tests, and analyse how well you did, and where there could be room for improvement
Always arrive early for an exam. Arriving late will just add to your stress levels
Arrive with a good attitude: be positive, smile, and be confident
If you suffer from exam anxiety, read our article on how to manage exam stress.
--------------------------------------------------------------------------------
During the exam
Read the directions carefully, and slowly. You don’t want to make a careless mistake
Read through the whole exam before answering, to give an overall picture of your task
Answer easy questions first; that way you won’t get stuck on a tricky question and run out of time
Look for the key words in the question: there are usually one or two that will give you a clue
Don’t leave when you’re finished; review all your answers and double-check you’ve answered all questions correctly
Double-check your spelling, punctuation and grammar.
--------------------------------------------------------------------------------
After the exam
Be positive: think about those tasks you know you did well on
Avoid a ‘post mortem’. Discussing with other students how well you and they did, or didn’t do, will only drag you down
After the exam, don’t go back to study or work right away: give yourself some time off to relax doing something you enjoy.
--------------------------------------------------------------------------------
Tests and exams are an inevitable part of learning. They’re not there to trip you up, but to measure how well you have understood the subject. Even if you know the content well, there are ways to help yourself perform better on the day.
Before the exam
During the exam
After the exam
Some people thrive on exams, others aren’t so fortunate. A disciplined approach will make your task easier, and - hopefully - improve your results
Before the exam
Your success starts before you even sit down for the exam.
Look at previous tests, and analyse how well you did, and where there could be room for improvement
Always arrive early for an exam. Arriving late will just add to your stress levels
Arrive with a good attitude: be positive, smile, and be confident
If you suffer from exam anxiety, read our article on how to manage exam stress.
--------------------------------------------------------------------------------
During the exam
Read the directions carefully, and slowly. You don’t want to make a careless mistake
Read through the whole exam before answering, to give an overall picture of your task
Answer easy questions first; that way you won’t get stuck on a tricky question and run out of time
Look for the key words in the question: there are usually one or two that will give you a clue
Don’t leave when you’re finished; review all your answers and double-check you’ve answered all questions correctly
Double-check your spelling, punctuation and grammar.
--------------------------------------------------------------------------------
After the exam
Be positive: think about those tasks you know you did well on
Avoid a ‘post mortem’. Discussing with other students how well you and they did, or didn’t do, will only drag you down
After the exam, don’t go back to study or work right away: give yourself some time off to relax doing something you enjoy.
--------------------------------------------------------------------------------
Tuesday, May 11, 2010
NOTES ON HYMENOLEPIS NANA (dwarf tapeworm) by BIVEK SINGH
HYMENOLEPIS NANA (dwarf tapeworm)
• smallest tapeworm infecting man
• only human tapeworm which can complete its entire life cycle in a single host
• does not require an obligatory intermediate host
• man can harbor both adult and larval stages of parasite
DISTRIBUTION
• worldwide among children
DISEASES
• hymenolepiasis
MORPHOLOGY
1. Adult Worm
- found in the ileum
- delicate strobila that measures 25 to 45 mm x 1 mm (lw)
- Scolex
o Subglobular
o 4 cup-shaped suckers
o retractable rostellum with a single row of 20 to 30 y-shaped hooklets
- Neck
o long and slender
- Proglottids
o Anterior = short
o Posterior = broader
o Measures 0.15 to 0.3 mm x 0.8 to 1.0 mm (lw)
o Mature proglottids : contain 3 ovoid testes and one ovary
o Gravid proglottids :
testes and ovary disappear
uterus hollows out and becomes filled with eggs
segments are separated from the strobila and disintegrate as they pass out of the intestines, releasing eggs in stool
- Segments
o 175 to 220 segments
o genital pores found along the side of segments
2. Eggs
- Shape : spherical or subspherical
- Measures 30 to 47 um in diameter
- Oncosphere
o thin outer membrane
o thick inner membrane with conspicuous bipolar thickenings
4 to 8 hair-like polar filaments arise
filaments are embedded in the inner membrane
H. nana cysticercoid
LIFE CYCLE
- Dual pathway
1. Direct
• host ingests eggs which hatch in the duodenum
• liberated embryos penetrate mucosal villi
• develop into infective cysticercoid larvae
• larvae break out of villi and attaches to intestinal mucosa 4 to 5 days later
• develop into adults
2. Indirect
• infection is usually via accidental ingestion of infected arthropod intermediate hosts like rice and flour beetles (Tenebrio sp.)
• cysticercoid larvae are released and will eventually develop into adult tapeworms in the intestines of the host
- takes 20 to 30 days from time of ingestion for eggs to appear in the feces
- eggs are viable immediately after discharge from bowel
- autoinfection can occur through the fecal-oral route or w/in the small bowel
- oncospheres from eggs are released and they invade the host villi to start new generation
PATHOGENESIS AND CLINICAL MANIFESTATION
• symptoms are produced because of patient’s immunological response to the presence of the parasite
• asymptomatic – light worm burden
• clinical manifestations:
o headache
o dizziness
o anorexia
o pruritus of nose and anus
o diarrhea
o abdominal pain
o pallor
• infected children
o restless
o irritable
o exhibit sleep disturbances
o convulsions (rare)
• Heavy infections
o Enteritis due to necrosis and desquamation of the intestinal epithelial cells
• Regulatory immunity
o (time) clears H. nana spontaneously.
DIAGNOSIS
• specific diagnosis = demonstration of characteristic eggs in stool
• light infections = need to concentrate stool specimens
• proglottids are not recovered because they undergo degeneration prior to passage with stools
TREATMENT
• *Praziquantel = 25mg/kg single dose
o causes vacuolization and disruption of tegument in the neck region
o dosage for hymenolepiasis is higher than for taeniasis because of relative resistant cysticercoids in the intestinal tissue
• examine stool after 2 weeks
o repeat treatment to cover for the worms emerging from remaining viable cysticercoids
EPIDEMIOLOGY
• found in warm countries
o Southern USA
o Latin America
o Mediterranean
o East Asia
o Philippines
• Transmission : poor sanitation, overcrowding, poor personal hygiene
• Direct contact plays an important role because eggs cannot survive long outside host
• Familial and institutional infection
• Found in mice and rats
PREVENTION AND CONTROL
• involves a single host and transmission is direct
• personal hygiene and environmental sanitation
• rodent control
• prevent food from infections by grain beetles
you can post comments ,likes ,suggestion and demand for other notes>
BIVEK SINGH
• smallest tapeworm infecting man
• only human tapeworm which can complete its entire life cycle in a single host
• does not require an obligatory intermediate host
• man can harbor both adult and larval stages of parasite
DISTRIBUTION
• worldwide among children
DISEASES
• hymenolepiasis
MORPHOLOGY
1. Adult Worm
- found in the ileum
- delicate strobila that measures 25 to 45 mm x 1 mm (lw)
- Scolex
o Subglobular
o 4 cup-shaped suckers
o retractable rostellum with a single row of 20 to 30 y-shaped hooklets
- Neck
o long and slender
- Proglottids
o Anterior = short
o Posterior = broader
o Measures 0.15 to 0.3 mm x 0.8 to 1.0 mm (lw)
o Mature proglottids : contain 3 ovoid testes and one ovary
o Gravid proglottids :
testes and ovary disappear
uterus hollows out and becomes filled with eggs
segments are separated from the strobila and disintegrate as they pass out of the intestines, releasing eggs in stool
- Segments
o 175 to 220 segments
o genital pores found along the side of segments
2. Eggs
- Shape : spherical or subspherical
- Measures 30 to 47 um in diameter
- Oncosphere
o thin outer membrane
o thick inner membrane with conspicuous bipolar thickenings
4 to 8 hair-like polar filaments arise
filaments are embedded in the inner membrane
H. nana cysticercoid
LIFE CYCLE
- Dual pathway
1. Direct
• host ingests eggs which hatch in the duodenum
• liberated embryos penetrate mucosal villi
• develop into infective cysticercoid larvae
• larvae break out of villi and attaches to intestinal mucosa 4 to 5 days later
• develop into adults
2. Indirect
• infection is usually via accidental ingestion of infected arthropod intermediate hosts like rice and flour beetles (Tenebrio sp.)
• cysticercoid larvae are released and will eventually develop into adult tapeworms in the intestines of the host
- takes 20 to 30 days from time of ingestion for eggs to appear in the feces
- eggs are viable immediately after discharge from bowel
- autoinfection can occur through the fecal-oral route or w/in the small bowel
- oncospheres from eggs are released and they invade the host villi to start new generation
PATHOGENESIS AND CLINICAL MANIFESTATION
• symptoms are produced because of patient’s immunological response to the presence of the parasite
• asymptomatic – light worm burden
• clinical manifestations:
o headache
o dizziness
o anorexia
o pruritus of nose and anus
o diarrhea
o abdominal pain
o pallor
• infected children
o restless
o irritable
o exhibit sleep disturbances
o convulsions (rare)
• Heavy infections
o Enteritis due to necrosis and desquamation of the intestinal epithelial cells
• Regulatory immunity
o (time) clears H. nana spontaneously.
DIAGNOSIS
• specific diagnosis = demonstration of characteristic eggs in stool
• light infections = need to concentrate stool specimens
• proglottids are not recovered because they undergo degeneration prior to passage with stools
TREATMENT
• *Praziquantel = 25mg/kg single dose
o causes vacuolization and disruption of tegument in the neck region
o dosage for hymenolepiasis is higher than for taeniasis because of relative resistant cysticercoids in the intestinal tissue
• examine stool after 2 weeks
o repeat treatment to cover for the worms emerging from remaining viable cysticercoids
EPIDEMIOLOGY
• found in warm countries
o Southern USA
o Latin America
o Mediterranean
o East Asia
o Philippines
• Transmission : poor sanitation, overcrowding, poor personal hygiene
• Direct contact plays an important role because eggs cannot survive long outside host
• Familial and institutional infection
• Found in mice and rats
PREVENTION AND CONTROL
• involves a single host and transmission is direct
• personal hygiene and environmental sanitation
• rodent control
• prevent food from infections by grain beetles
you can post comments ,likes ,suggestion and demand for other notes>
BIVEK SINGH
Gallstones
Bile contains cholesterol, bile pigments and phospholipids - if concentrations vary stones can form
Pigment stones - small, friable and irregular, caused by haemolysis
Cholesterol - large, often solitary. Associated with F, age and obesity
Occur in 8% over 40, 90% are asymptomatic.
Risks for becoming symptomatic - smoking, parity
Stones may cause;
Acute or chronic cholecystitis
Bilary colic
Pancreatitis
Obstructive jaundice
Acute cholecystitis
Follows stone or sludge impaction in the neck of the gallbladder
May cause continuous epigastric or RUQ pain (referred to right shoulder), vomiting, fever, local peritonism or a GB mass
The main difference from biliary colic is the inflammatory component - local peritonism, fever, raised WCC
If the stone moves to the CBD, obstructive jaundice and cholangitis may result
Murphy’s sign positive - place fingers over RUQ and get patient to breath in, then repeat on the LUQ
Tests - raised WCC, ultrasound - thick walled, shrunken GB, pericholestatic fluid, stones? CBD - dilated >6cm? AXR only shows up 10% of stones
Treatment
NBM, analgesics, IV fluids and antibiotics e.g. cefuroxime
Cholecystectomy
Chronic cholecystitis
Stones causing chronic inflammation and colic
Vague abdo pain, distension, nausea, flatulence and fat intolerance
US used to check for stones and CBD dilation
Treatment - cholecystectomy
Biliary colic
Occurs when gallstones become symptomatic with cystic duct obstruction or by passing into the CBD
Give RUQ pain, radiating to back plus jaundice
Give morphine plus an antiemetic
Elective cholecystectomy
Other presentations
Obstructive jaundice with CBD stones
Cholangitis - bile duct infection
Gallstone ileus - a stone perforates the GB entering the duodenum where it may obstruct the terminal ileum. Duodenal obstruction is rarer - Bouveret’s syndrome
Pancreatitis
Empyema
Complications of gallstones;
In the gallbladder;
Biliary colic
Acute and chronic cholecystitis
Empyema
Mucocoele
Carcinoma
In the bile duct
Obstructive jaundice
Pancreatitis
Cholangitis
In the gut;
Gallstone ileus
Pigment stones - small, friable and irregular, caused by haemolysis
Cholesterol - large, often solitary. Associated with F, age and obesity
Occur in 8% over 40, 90% are asymptomatic.
Risks for becoming symptomatic - smoking, parity
Stones may cause;
Acute or chronic cholecystitis
Bilary colic
Pancreatitis
Obstructive jaundice
Acute cholecystitis
Follows stone or sludge impaction in the neck of the gallbladder
May cause continuous epigastric or RUQ pain (referred to right shoulder), vomiting, fever, local peritonism or a GB mass
The main difference from biliary colic is the inflammatory component - local peritonism, fever, raised WCC
If the stone moves to the CBD, obstructive jaundice and cholangitis may result
Murphy’s sign positive - place fingers over RUQ and get patient to breath in, then repeat on the LUQ
Tests - raised WCC, ultrasound - thick walled, shrunken GB, pericholestatic fluid, stones? CBD - dilated >6cm? AXR only shows up 10% of stones
Treatment
NBM, analgesics, IV fluids and antibiotics e.g. cefuroxime
Cholecystectomy
Chronic cholecystitis
Stones causing chronic inflammation and colic
Vague abdo pain, distension, nausea, flatulence and fat intolerance
US used to check for stones and CBD dilation
Treatment - cholecystectomy
Biliary colic
Occurs when gallstones become symptomatic with cystic duct obstruction or by passing into the CBD
Give RUQ pain, radiating to back plus jaundice
Give morphine plus an antiemetic
Elective cholecystectomy
Other presentations
Obstructive jaundice with CBD stones
Cholangitis - bile duct infection
Gallstone ileus - a stone perforates the GB entering the duodenum where it may obstruct the terminal ileum. Duodenal obstruction is rarer - Bouveret’s syndrome
Pancreatitis
Empyema
Complications of gallstones;
In the gallbladder;
Biliary colic
Acute and chronic cholecystitis
Empyema
Mucocoele
Carcinoma
In the bile duct
Obstructive jaundice
Pancreatitis
Cholangitis
In the gut;
Gallstone ileus
High-risk profession: Suicide rate of U.S. doctors is one per day
More than a quarter of primary care doctors reported being "burnt out," in part due to worsening time pressures and a chaotic work pace, which were "strongly associated with low physician satisfaction."
300-400 doctors in the United States kill themselves every year, or roughly 1 per day. Male doctors have suicide rates 1.4 times that of the general population, while female doctors have twice the rate of depression and 2.3 times the suicide rate when compared with women who are not physicians.
References:
Help for Today's Tense, Frustrated Doctors. Medscape, 2009.
http://www.medscape.com/viewarticle/710904
Image source: Vincent van Gogh's 1890 painting At Eternity's Gate. Wikipedia, public domain.
Eating chocolate with high flavanol levels can protect the skin from UV light
Cocoa beans fresh from the tree are exceptionally rich in flavanols. Unfortunately, during conventional chocolate making, this high antioxidant capacity is greatly reduced due to manufacturing processes.
The researchers evaluated the photoprotective potential of chocolate consumption, comparing:
- specially produced chocolate with preserved high flavanol (HF) levels.
A double-blind in vivo study in 30 healthy subjects was conducted, 15 subjects were randomly assigned to either a high flavanol (HF) or low flavanol (LF) chocolate group and consumed a 20 g portion of their allocated chocolate daily.
The minimal erythema dose (MED) was assessed at baseline and after 12 weeks.
In the high flavanol (HF) chocolate group the mean MED more than doubled after 12 weeks of chocolate consumption, while in the LF chocolate group, the MED remained without significant change.
The authors concluded that regular consumption of a chocolate rich in flavanols confers significant photoprotection and can thus be effective at protecting human skin from harmful UV effects. However, conventional chocolate has no such effect.
The researchers evaluated the photoprotective potential of chocolate consumption, comparing:
- conventional dark chocolate
- specially produced chocolate with preserved high flavanol (HF) levels.
A double-blind in vivo study in 30 healthy subjects was conducted, 15 subjects were randomly assigned to either a high flavanol (HF) or low flavanol (LF) chocolate group and consumed a 20 g portion of their allocated chocolate daily.The minimal erythema dose (MED) was assessed at baseline and after 12 weeks.
In the high flavanol (HF) chocolate group the mean MED more than doubled after 12 weeks of chocolate consumption, while in the LF chocolate group, the MED remained without significant change.
The authors concluded that regular consumption of a chocolate rich in flavanols confers significant photoprotection and can thus be effective at protecting human skin from harmful UV effects. However, conventional chocolate has no such effect.
Can a Midday Nap Make You Smarter? Adults Who Nap for 90-minutes at 2 PM Learn and Perform Better at Tests
According to a new study, if you devote your lunch hour to a nap, you may perform and learn better in the afternoon.
Napping at midday, when the brain's ability to learn may have deteriorated, may clear the brain's memory "storage area" and make room for new information.
In the study, the nap group was given the chance for a 90-minute siesta at 2 p.m.; the no-nap group was asked to stay awake.
People in the group which didn't nap had a 10% reduction in their learning capacity. The people who had a nap improved their ability to learn by 10% (not much).
References:
Can a Mid-Day Nap Make You Smarter? WebMD.
Image source: Sleeping kitten. Wikipedia, Tilman Piesk, public domain.
B-BLOCKER BLOOD PRESSURE PILLS HAVE BEEN USED FOR STAGE FRIGHT BUT MAKE SOME DEPRESSED AND SLOW HEART RATE
Some people are so nervous that they are anxious about their anxiety. "A blood pressure pill could help people forget bad memories, according to a Dutch study published Sunday". I am not sure if this is exactly news because beta blockers in small doses have been profferred as a treatment for some kinds of anxiety for quite a long time. According to the interesting musician's web site below "Beta blockers have been called "the musicians underground drug." Often musicians form their opinions, and may risk their health, based on locker-room-type information". But like almost everything in medicine different people react differently to the same drug. Some people actually get more depressed on beta blockers.
Beta blockers are a class of heart cardiovascular and blood pressure pills that have the effect of slowing the heart beat. They work on the so called beta receptors. They can be dangerous in certain conditions such as when a person already has a slow heart rate and they can worsen diabetes and increase asthma problems.
"The generic beta-blocker propranolol weakened a person's fearful memories of spiders in the test group, making it a possible treatment for individuals with anxiety disorders and phobias.We could show that the fear response went away, which suggests the memory was weakened," said Merel Kindt, a psychologist at the University of Amsterdam, who led the study".
Beta blockers are a class of heart cardiovascular and blood pressure pills that have the effect of slowing the heart beat. They work on the so called beta receptors. They can be dangerous in certain conditions such as when a person already has a slow heart rate and they can worsen diabetes and increase asthma problems.
"The generic beta-blocker propranolol weakened a person's fearful memories of spiders in the test group, making it a possible treatment for individuals with anxiety disorders and phobias.We could show that the fear response went away, which suggests the memory was weakened," said Merel Kindt, a psychologist at the University of Amsterdam, who led the study".
What Does Monty Python Have to do with the Heart?
I went to a cardiologist yesterday and he told me to go watch the movie Ferris Bueller's Day Off or Monthy Python... Actually that didn't happen but it could have. Watching a funny movie could be good for your heart. "Laughing may be important to maintain a healthy endothelium, and reduce the risk of cardiovascular disease,” says principal investigator Michael Miller, M.D., director of preventive cardiology at the University of Maryland Medical Center". Using laughter-provoking movies to gauge the effect of emotions on cardiovascular health, researchers at the school suggest that laughter is linked to healthy function of blood vessels. The endothelium is the inner lining of the blood vessels. You may not know it but the blood vessels can dilate (become wider). One of the signs of good cardiovascular function is the flexibility of the blood vessels to dilate. Interestingly, drugs like Viagra improve the dilation qualities of blood vessels. That is how it was discovered when scientists were looking for new heart medicines. Too much dilation can cause low blood pressure and thus the warnings about these drugs in some people, but I digress.
Sunday, March 21, 2010
IRON METABOLISM
Presented By:
• Bivek Singh
• KISTMC
• Second year student
• Department of biochemistry
Describe Iron deficiency anemia
Describe the diagnostic test for iron
deficiency states.
Cause ,Diagnosis and Management of
Porphyria
Acute intermittent porphyria
Iron deficiency anemia
Commonest cause of anaemia worldwide
Cause of chronic ill health
CAUSE :-
• Increased physiologic demand eg. pregnancy, lactation, rapid growth
• Blood loss from GI tract, uterus, haemoglobinuria
• Malabsorption
• Diet
CLINICAL FEATURES :
IRON DEFICIENCY
Symptoms eg. fatigue, dizziness, headache
Signs
eg. pallor,
glossitis,
angular cheilosis,
koilonychia,
Plummer Vinson syndrome
LABORATORY DIAGNOSIS: IRON DEFICIENCY
• Microcytic hypochromic anaemia
• Often pencil cells and target cells on blood film
• Decreased serum ferritin
• Decreased serum iron, increased TIBC, decreased % transferrin saturation
• Absent bone marrow haemosiderin : (rarely required for diagnosis )
Things you need to know about Laboratory Testing for Iron Status
1. Serum ferritin most useful test
2. Low serum ferritin certain proof patient iron deficient
3. Normal serum ferritin does not always rule out iron deficiency
4. Certain conditions raise ferritin for reasons unrelated to iron status
Porphyria:
Heme is part of hemoglobin, myoglobin, catalases, peroxidases, and cytochromes
Heme is made in every human cell (85% in erythroid cells & much of the rest in the liver)
Classification of porphyrias
Porphyria is a disruption in the heme pathway
• Group of metabolic diseases resulting from a partial deficiency of an enzyme in the heme biosynthetic pathway
• Seven enzymes in the pathway
• Four of the porphyrias cause acute attacks
• Increased demand for heme can precipitate attacks secondary to overproduction of toxic heme precursors (porphyrins, ALA)
• The porphyrins have no useful function and act as highly reactive oxidants damaging tissues
Not a ‘vampire’s’ disease
Some symptoms of porphyrias have lead people to believe that these diseases
provide some basis for vampire legends:
• Extreme sensitivity to sunlight
• Anemia
This idea has been discarded both for scientific reasons:
• Porphyrias do not cause a craving for blood.
• Drinking blood would not help a victim of porphyria.
Acute Intermittent Porphyria
Most common porphyria
Deficiency of hepatic PBG deaminase
Autosomal dominant pattern
Affected individuals have a 50% reduction in erythrocyte PBG deaminase activity
Latent prior to puberty
Symptoms more common in females than males
Increased urinary ALA & PBG
Clinical Features
Gastrointestinal symptoms - Abdominal pain (most common presenting complaint), nausea/vomiting, constipation, and diarrhea.
Dehydration
Hyponatremia
Cardiovascular symptoms - tachycardia, hypertension, arrhythmias
Neurologic manifestations - motor neuropathy, sensory neuropathy, mental symptoms, seizures.
diagnosis
• PBG, uroprophryin, and 5-ALA
accumulate in the plasma and the urine
Cause diagnosis and treatment
of porphyrias
Porphyrias are metabolic diseases resulting from a partial deficiency of an enzyme in the heme biosynthetic pathway
Cause acute attacks secondary accumulation of heme precursors
Clinical features: abdominal pain, tachycardia, hypertension, hyponatremia, seizures, motor neuropathy etc.
Treat acute attacks with IV hemin
Prevent acute attacks with smoking cessation, avoidance of inciting agents
DIAGNOSIS
1. Erythrocyte fluorescence:Positive test suggests erythropoietic protoporphyria or congenital erythropoietic porphyria.
1. Plasma scan:highly specific for variegate porphyria.
1. Urine porphyrin and precursor analysis:may confirm a diagnosis of acute intermittent porphyria or porphyria cutanea tarda, and is the most appropriate way to assess the biochemical activity of variegate porphyria
1. DNA analysis:
1. Stool porphyrin analysis:usually for diagnosis of hereditary coproporphyria.
TREATMENT
Remove precipitating factors
Treat the pain
Expect and treat the complications
Specific therapy with hemin (haem arginate)
Prevent acute attacks with smoking cessation, avoidance of inciting agents
Presented By:
• Bivek Singh
• KISTMC
• Second year student
• Department of biochemistry
Describe Iron deficiency anemia
Describe the diagnostic test for iron
deficiency states.
Cause ,Diagnosis and Management of
Porphyria
Acute intermittent porphyria
Iron deficiency anemia
Commonest cause of anaemia worldwide
Cause of chronic ill health
CAUSE :-
• Increased physiologic demand eg. pregnancy, lactation, rapid growth
• Blood loss from GI tract, uterus, haemoglobinuria
• Malabsorption
• Diet
CLINICAL FEATURES :
IRON DEFICIENCY
Symptoms eg. fatigue, dizziness, headache
Signs
eg. pallor,
glossitis,
angular cheilosis,
koilonychia,
Plummer Vinson syndrome
LABORATORY DIAGNOSIS: IRON DEFICIENCY
• Microcytic hypochromic anaemia
• Often pencil cells and target cells on blood film
• Decreased serum ferritin
• Decreased serum iron, increased TIBC, decreased % transferrin saturation
• Absent bone marrow haemosiderin : (rarely required for diagnosis )
Things you need to know about Laboratory Testing for Iron Status
1. Serum ferritin most useful test
2. Low serum ferritin certain proof patient iron deficient
3. Normal serum ferritin does not always rule out iron deficiency
4. Certain conditions raise ferritin for reasons unrelated to iron status
Porphyria:
Heme is part of hemoglobin, myoglobin, catalases, peroxidases, and cytochromes
Heme is made in every human cell (85% in erythroid cells & much of the rest in the liver)
Classification of porphyrias
Porphyria is a disruption in the heme pathway
• Group of metabolic diseases resulting from a partial deficiency of an enzyme in the heme biosynthetic pathway
• Seven enzymes in the pathway
• Four of the porphyrias cause acute attacks
• Increased demand for heme can precipitate attacks secondary to overproduction of toxic heme precursors (porphyrins, ALA)
• The porphyrins have no useful function and act as highly reactive oxidants damaging tissues
Not a ‘vampire’s’ disease
Some symptoms of porphyrias have lead people to believe that these diseases
provide some basis for vampire legends:
• Extreme sensitivity to sunlight
• Anemia
This idea has been discarded both for scientific reasons:
• Porphyrias do not cause a craving for blood.
• Drinking blood would not help a victim of porphyria.
Acute Intermittent Porphyria
Most common porphyria
Deficiency of hepatic PBG deaminase
Autosomal dominant pattern
Affected individuals have a 50% reduction in erythrocyte PBG deaminase activity
Latent prior to puberty
Symptoms more common in females than males
Increased urinary ALA & PBG
Clinical Features
Gastrointestinal symptoms - Abdominal pain (most common presenting complaint), nausea/vomiting, constipation, and diarrhea.
Dehydration
Hyponatremia
Cardiovascular symptoms - tachycardia, hypertension, arrhythmias
Neurologic manifestations - motor neuropathy, sensory neuropathy, mental symptoms, seizures.
diagnosis
• PBG, uroprophryin, and 5-ALA
accumulate in the plasma and the urine
Cause diagnosis and treatment
of porphyrias
Porphyrias are metabolic diseases resulting from a partial deficiency of an enzyme in the heme biosynthetic pathway
Cause acute attacks secondary accumulation of heme precursors
Clinical features: abdominal pain, tachycardia, hypertension, hyponatremia, seizures, motor neuropathy etc.
Treat acute attacks with IV hemin
Prevent acute attacks with smoking cessation, avoidance of inciting agents
DIAGNOSIS
1. Erythrocyte fluorescence:Positive test suggests erythropoietic protoporphyria or congenital erythropoietic porphyria.
1. Plasma scan:highly specific for variegate porphyria.
1. Urine porphyrin and precursor analysis:may confirm a diagnosis of acute intermittent porphyria or porphyria cutanea tarda, and is the most appropriate way to assess the biochemical activity of variegate porphyria
1. DNA analysis:
1. Stool porphyrin analysis:usually for diagnosis of hereditary coproporphyria.
TREATMENT
Remove precipitating factors
Treat the pain
Expect and treat the complications
Specific therapy with hemin (haem arginate)
Prevent acute attacks with smoking cessation, avoidance of inciting agents





