Thursday, November 29, 2007
Wednesday, November 28, 2007
18- beckwith - wiedermann syndrome
- the children show somatic overgrowth and organomegalies and hemihypertrophy
- have an increased risk of embryonal malignancies such as wilm's tumour .
- normally only the paternally derived copy of the IGF - II gene is active and the maternal copy is inactive . imprinting of the IGF - II gene is regulated by H19 which encodes an RNA transcript that is not translated into protein . disruption or lack of H19 methylation leads to a relaxation of IGF - II imprinting and expression of both the allelles leading to this syndrome.
- heritable changes in gene expression not associated with the dna sequence alterations are referred to as EPIGENETIC EFFECTS , these changes are increasingly recognised to play a role in human diseases and possibly in aging as well .
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X inactivation prevents the expression of most genes on one of the two X chromosomes in every cell of a female . gene inactivation also occurs on selected chromosomal regions of autosomes. this phenomenon is called GENOMIC IMPRINTING.
- have an increased risk of embryonal malignancies such as wilm's tumour .
- normally only the paternally derived copy of the IGF - II gene is active and the maternal copy is inactive . imprinting of the IGF - II gene is regulated by H19 which encodes an RNA transcript that is not translated into protein . disruption or lack of H19 methylation leads to a relaxation of IGF - II imprinting and expression of both the allelles leading to this syndrome.
- heritable changes in gene expression not associated with the dna sequence alterations are referred to as EPIGENETIC EFFECTS , these changes are increasingly recognised to play a role in human diseases and possibly in aging as well .
------------------------------
X inactivation prevents the expression of most genes on one of the two X chromosomes in every cell of a female . gene inactivation also occurs on selected chromosomal regions of autosomes. this phenomenon is called GENOMIC IMPRINTING.
17- bassen - kornweig syndrome
- HEREDITARY ATAXIA seen in abetaliproteinemia.
- caused by mutations in the gene coding for the larger subunit of the microsomal triglyceride transfer protein ( MTP )
- defects in MTP result in impairment of formation and secretion of VLDL in liver .
- this defect leads in a deficiency of delivery of vitamin E to tissues , including the central and peripheral nervous system , as VLDL is the transport molecule for vitamin E and other fat soluble substitutes .
- this leads to hereditry ATAXIA.
- caused by mutations in the gene coding for the larger subunit of the microsomal triglyceride transfer protein ( MTP )
- defects in MTP result in impairment of formation and secretion of VLDL in liver .
- this defect leads in a deficiency of delivery of vitamin E to tissues , including the central and peripheral nervous system , as VLDL is the transport molecule for vitamin E and other fat soluble substitutes .
- this leads to hereditry ATAXIA.
16-bartter's syndrome
- hypokalemia secondary to renal potassium wasting , metabolic alkalosis and normal to low blood pressure are the clinical features .
- two variants of this syndrome are observed
a- antenatal bartters syndrome also called HYPERPROSTAGLANDIN E SYNDROME
b- classic bartters syndrome
- antenatal form is characterised by polyhydramnios and premature delivery , nephrocalcinosis secondary to hypercalcuria is frequent . prostaglandin e production is very high .
- classic form presents during childhood and symptoms such as weakness and cramps are secondary to hypokalemia .polyuria and nocturia are common due to the hypokalemia induced nephrogenic diabetes insipidus . nephrocalcinosis less common than in antenatal form .
- abnormalities in three renal tubule transport proteins have been shown to cause bartter's syndrome . mutations in either the BUMETANIDE SENSITIVE Na-K-2Cl COTRANSPORTER or the APICAL POTASSIUM CHANNEL ( ROMK ) have been described in antenatal bartters.
- mutations of a basolateral CHLORIDE CHANNEL ( CLC -Kb ) are found in patients with classic bartter's syndrome .
- loss of sodium and chloride reabsorption in the loop of henle and excessive secretion of the potassium and H+ ions .
- treatment - dietary intake of sodium and potassium shud be liberal . potassium supplements , spironolactone will reduce potassium wasting . NSAID s useful in antenatal form of the disease to reduce the prostaglandin production . ACE inhibitors may be useful in some patients .
- two variants of this syndrome are observed
a- antenatal bartters syndrome also called HYPERPROSTAGLANDIN E SYNDROME
b- classic bartters syndrome
- antenatal form is characterised by polyhydramnios and premature delivery , nephrocalcinosis secondary to hypercalcuria is frequent . prostaglandin e production is very high .
- classic form presents during childhood and symptoms such as weakness and cramps are secondary to hypokalemia .polyuria and nocturia are common due to the hypokalemia induced nephrogenic diabetes insipidus . nephrocalcinosis less common than in antenatal form .
- abnormalities in three renal tubule transport proteins have been shown to cause bartter's syndrome . mutations in either the BUMETANIDE SENSITIVE Na-K-2Cl COTRANSPORTER or the APICAL POTASSIUM CHANNEL ( ROMK ) have been described in antenatal bartters.
- mutations of a basolateral CHLORIDE CHANNEL ( CLC -Kb ) are found in patients with classic bartter's syndrome .
- loss of sodium and chloride reabsorption in the loop of henle and excessive secretion of the potassium and H+ ions .
- treatment - dietary intake of sodium and potassium shud be liberal . potassium supplements , spironolactone will reduce potassium wasting . NSAID s useful in antenatal form of the disease to reduce the prostaglandin production . ACE inhibitors may be useful in some patients .
15- barlow's syndrome
- other name for MITRAL VALVE PROLAPSE
- other synonyms for the same syndrome are SYSTOLIC CLICK MURMUR SYNDROME , FLOPPY VALVE SYNDROME OR BLOWING MITRAL LEAF LET SYNDROME .
- frequent finding in patients with heritable disorders of connective tissue including the MARFANS SYNDROME , OSTEOGENESIS IMPERFECTA AND EHLER DAHNLOS SYNDROME .
-in most patients the cause is unknown , but in some it appears to be a genetically determined collagen tissue disorder . a reduction in the production of type 3 collagen has been incriminated.
- more common in females
- most commonly affects individuals between 14 and 30 years .
- most patients are asymptomatic and remain so for their entire lives . clinical features may range from only a systolic click and murmur and mild prolapse of the posterior leaf let of the mitral valve to severe MR due to chordal rupture and massive prolapse of both the mitral leaflets .
- most common cause of isolated severe MR requiring surgical treatment in north america .
-sudden death is a very rare complication .
- the most important auscultatory finding is the mid or late nonejection systolic click which occurs 0.14 seconds or more after the S 1 and is thought to be generated by the sudden tensing of slack , elongated chordae tendinae or by the prolapsing mitral leaf let when it reaches its maximum excursion.
- two dimensional echocardiography is particularly effective
- chestpain may be present and may be reduced by beta blockers .
- other synonyms for the same syndrome are SYSTOLIC CLICK MURMUR SYNDROME , FLOPPY VALVE SYNDROME OR BLOWING MITRAL LEAF LET SYNDROME .
- frequent finding in patients with heritable disorders of connective tissue including the MARFANS SYNDROME , OSTEOGENESIS IMPERFECTA AND EHLER DAHNLOS SYNDROME .
-in most patients the cause is unknown , but in some it appears to be a genetically determined collagen tissue disorder . a reduction in the production of type 3 collagen has been incriminated.
- more common in females
- most commonly affects individuals between 14 and 30 years .
- most patients are asymptomatic and remain so for their entire lives . clinical features may range from only a systolic click and murmur and mild prolapse of the posterior leaf let of the mitral valve to severe MR due to chordal rupture and massive prolapse of both the mitral leaflets .
- most common cause of isolated severe MR requiring surgical treatment in north america .
-sudden death is a very rare complication .
- the most important auscultatory finding is the mid or late nonejection systolic click which occurs 0.14 seconds or more after the S 1 and is thought to be generated by the sudden tensing of slack , elongated chordae tendinae or by the prolapsing mitral leaf let when it reaches its maximum excursion.
- two dimensional echocardiography is particularly effective
- chestpain may be present and may be reduced by beta blockers .
14-balint's syndrome
- bilateral involvement of the parieto frontal network for spatial attention , especially its parietal components , leads to a state of severe spatial disorientation known as BALINT'S SYNDROME.
-it involves deficits in the orderly visuomotor scanning of the environment ( oculomotor apraxia ) and inaccurate manual reaching towards visual targets ( optic ataxia )
- the third and most dramatic component of the balints syndrome is SIMULTANAGNOSIA and reflects an inability to integrate visual information in the cneter of gaze with more peripheral information .
- the patient gets stuck on the detail that falls in the center of gaze without attempting to scan the visual environment for additional information . the patient MISSES THE FOREST FOR THE TREES .
-complete visual scenes cannot be grasped in their entirety , leading to severe limitations in the visual identification of objects and scenes .
- FOR EXAMPLE A PATIENT WHO IS SHOWN A TABLE LAMP AND ASKED TO NAME THE OBJECT MAY LOOK AT ITS CIRCULAR BASE AND CALL IT AN ASH TRAY . SOME PATIENTS WITH SIMULTANAGNOSIA REPORT THAT OBJECTS THEY LOOK AT MAY SUDDENLY VANISH ,PROBABLY INDICATING AN INABILITY TO LOOK BACK AT THE ORIGINAL POINT OF GAZE AFTER BRIEF SACCADIC DISPLACEMENTS .
- when a paper is shown with all types of alphabets in multiple numbers to the patient and when he is asked to circle all the A s or circle any specific letter he wud circle the A s of only one half of the paper leaving the other half . now take another paper and write all alphabets in multiple numbers and write the letter A in big size and multiple numbers and then ask him to circle the A s he wud not circle the big A s because he cannot grasp the whole paper in its entirety and sticks to only few regions .
-it involves deficits in the orderly visuomotor scanning of the environment ( oculomotor apraxia ) and inaccurate manual reaching towards visual targets ( optic ataxia )
- the third and most dramatic component of the balints syndrome is SIMULTANAGNOSIA and reflects an inability to integrate visual information in the cneter of gaze with more peripheral information .
- the patient gets stuck on the detail that falls in the center of gaze without attempting to scan the visual environment for additional information . the patient MISSES THE FOREST FOR THE TREES .
-complete visual scenes cannot be grasped in their entirety , leading to severe limitations in the visual identification of objects and scenes .
- FOR EXAMPLE A PATIENT WHO IS SHOWN A TABLE LAMP AND ASKED TO NAME THE OBJECT MAY LOOK AT ITS CIRCULAR BASE AND CALL IT AN ASH TRAY . SOME PATIENTS WITH SIMULTANAGNOSIA REPORT THAT OBJECTS THEY LOOK AT MAY SUDDENLY VANISH ,PROBABLY INDICATING AN INABILITY TO LOOK BACK AT THE ORIGINAL POINT OF GAZE AFTER BRIEF SACCADIC DISPLACEMENTS .
- when a paper is shown with all types of alphabets in multiple numbers to the patient and when he is asked to circle all the A s or circle any specific letter he wud circle the A s of only one half of the paper leaving the other half . now take another paper and write all alphabets in multiple numbers and write the letter A in big size and multiple numbers and then ask him to circle the A s he wud not circle the big A s because he cannot grasp the whole paper in its entirety and sticks to only few regions .
Tuesday, November 27, 2007
13- ashermann's syndrome
- well u will have to go through the gynaecological text books about this
- this is a syndrome which is characterised by destruction of the endometium usually following
vigorous curettage for postpartum hemorrhage or after therapeutic abortion complicated by
infection.
- many synechiae are found in the uterus lumen folllowing the above procedures .
- causes secondary amenorrhea .
- this is a syndrome which is characterised by destruction of the endometium usually following
vigorous curettage for postpartum hemorrhage or after therapeutic abortion complicated by
infection.
- many synechiae are found in the uterus lumen folllowing the above procedures .
- causes secondary amenorrhea .
12- arthritis dermatitis syndrome
- disseminated gonococcal infection
- small number of papules and vesico pustules with central purpura or hemorrhagic necrosis are found on the distal extremities .
- additional symptoms include arthralgias , tenosynovitis and fever .
- to establish a diagnosis a gram stain of these lesions shud be done .
- small number of papules and vesico pustules with central purpura or hemorrhagic necrosis are found on the distal extremities .
- additional symptoms include arthralgias , tenosynovitis and fever .
- to establish a diagnosis a gram stain of these lesions shud be done .
11- aortic arch syndrome
- TAKAYASU ARTERITIS is some times called the aortic arch syndrome because takayasu arteritis is an inflammatory and steotic disease of medium and large sized arteries characterised by a STRONG PREDILICTION FOR THE AORTIC ARCH AND ITS BRANCHES .
- involvement of the branches of the aorta is much more marked at their origins than distally
-marked intimal proliferation and fibrosis , scarring and vascularization of the media , and disruption and degeneration of the elastic lamina . narrowing of the lumen occurs with or without thrombosis. vasa vasorum are frequently involved .
- frequency of arteriographic abnormalities in takayasu are :
1- subclavian artery- 93 %
2-common carotid - 58 %
3-abdominal aorta - 47 %
4-renal artery --38 %
5-aortic arch or root - 35 %
6- celiac axis and superior mesentric - 18 % each
7-iliac - 17 %
8- pulmonary artery - 10 to 40 %
9-CORONARY ARTERIES - LESS THAN 10 %
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GOLDEN WORDS FOR A DOCTOR - the diagnosis of takayasu arteritis shud be suspected strongly in a young woman who develops a decrease or absence of peripheral pulses , discrepancies in blood pressure and arterial bruits .
- involvement of the branches of the aorta is much more marked at their origins than distally
-marked intimal proliferation and fibrosis , scarring and vascularization of the media , and disruption and degeneration of the elastic lamina . narrowing of the lumen occurs with or without thrombosis. vasa vasorum are frequently involved .
- frequency of arteriographic abnormalities in takayasu are :
1- subclavian artery- 93 %
2-common carotid - 58 %
3-abdominal aorta - 47 %
4-renal artery --38 %
5-aortic arch or root - 35 %
6- celiac axis and superior mesentric - 18 % each
7-iliac - 17 %
8- pulmonary artery - 10 to 40 %
9-CORONARY ARTERIES - LESS THAN 10 %
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GOLDEN WORDS FOR A DOCTOR - the diagnosis of takayasu arteritis shud be suspected strongly in a young woman who develops a decrease or absence of peripheral pulses , discrepancies in blood pressure and arterial bruits .
10- anton's syndrome
- when bilateral infarction in the distal POSTERIOR CEREBRAL ARTERY occurs , it produces cortical blindness ( blindness with preserved pupillary light reaction ) . the patient is often unaware of the blindness and may even deny it . this is called ANTON'S SYNDROME .
-tiny islands of vision may persist and the patient may report that vision fluctuates as images are captured in the preserved portions .
- rarely only peripheral vision is lost and the central vision is spared resulting in GUN BARREL VISION.
9-angelman's syndrome
- according to traditional mendelian principles , the parental origin of a mutant gene is irrelevant for the expression of the phenotype
- exceptions to this rule are the PRADER WILLI SYNDROME AND THE ANGELMAN SYNDROME.
-deletions in the prader willi syndrome occur exclusively in the paternal chromosome 15
- deletions at the same site in the maternal chromosome 15 causes the angelman syndrome ( mental retardation , seizures , ataxia and hypotonia )
- features of the prader willi syndrome are obesity, diminished fetal activity , hypotonia , mental retardation , short stature and hypogonadotropic hypogonadism.
- THESE SYNDROMES MAY ALSO RESULT FROM UNIPARENTAL DISOMY . IN THIS CASE THE SYNDROMES ARE NOT CAUSED BY DELETIONS ON CHROMOSOME 15 BUT BY THE INHERITENCE OF EITHER TWO MATERNAL CHROMOSOMES ( ANGELMAN SYNDROME ) OR TWO PATERNAL CHROMOSOMES ( PRADER WILLI SYNDROME ).
- exceptions to this rule are the PRADER WILLI SYNDROME AND THE ANGELMAN SYNDROME.
-deletions in the prader willi syndrome occur exclusively in the paternal chromosome 15
- deletions at the same site in the maternal chromosome 15 causes the angelman syndrome ( mental retardation , seizures , ataxia and hypotonia )
- features of the prader willi syndrome are obesity, diminished fetal activity , hypotonia , mental retardation , short stature and hypogonadotropic hypogonadism.
- THESE SYNDROMES MAY ALSO RESULT FROM UNIPARENTAL DISOMY . IN THIS CASE THE SYNDROMES ARE NOT CAUSED BY DELETIONS ON CHROMOSOME 15 BUT BY THE INHERITENCE OF EITHER TWO MATERNAL CHROMOSOMES ( ANGELMAN SYNDROME ) OR TWO PATERNAL CHROMOSOMES ( PRADER WILLI SYNDROME ).
8- andersen's syndrome
1- POTASSIUM CHANNEL DISORDER
2-rare disease
3- disease is caused by mutations to the inwardly rectifying potassium channel ( kir ) gene.
4-episodic weakness , cardiac arrythmias and dysmorphic features ( short stature , scoliosis , clinodactyly , hypertelorism , small or prominent low set ears , micrognathia and broad forehead) .
5- cardiac arrythmias are potentially serious and life threatening . they include long QT , ventricular atopy , bidirectional ventricular arrythmias and tachycardia .
6- autosomal dominant inheritance with incomplete penetrance and variable expressivity
7- ACETAZOLAMIDE will decrease the attack frequency and severity .
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AUTOSOMAL DOMINANT CHLORIDE CHANNEL DISORDER - THOMSEN ' S DISEASE
AUTOSOMLA RECESSIVE CHLORIDE CHANNEL DISORDER - BECKER'S DISEASE
2-rare disease
3- disease is caused by mutations to the inwardly rectifying potassium channel ( kir ) gene.
4-episodic weakness , cardiac arrythmias and dysmorphic features ( short stature , scoliosis , clinodactyly , hypertelorism , small or prominent low set ears , micrognathia and broad forehead) .
5- cardiac arrythmias are potentially serious and life threatening . they include long QT , ventricular atopy , bidirectional ventricular arrythmias and tachycardia .
6- autosomal dominant inheritance with incomplete penetrance and variable expressivity
7- ACETAZOLAMIDE will decrease the attack frequency and severity .
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AUTOSOMAL DOMINANT CHLORIDE CHANNEL DISORDER - THOMSEN ' S DISEASE
AUTOSOMLA RECESSIVE CHLORIDE CHANNEL DISORDER - BECKER'S DISEASE
7- alport syndrome
a- alport syndrome is an inherited disorder and four forms of this disease are recognised
1- classic AS - inherited as an x linked disorder with HEMATURIA , SENSORINEURAL
DEAFNESS AND CONICAL DEFORMATION OF THE ANTERIOR SURFACE OF THE LENS
also called as LENTICONUS .
2-a subtype of the x linked form associated with DIFFUSE LEIOMYOMATOSIS
3- an autosomal recessive form
4- an autosomal dominant form .
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THE TWO AUTOSOMAL FORMS CAN CAUSE RENAL DISEASE WITHOUT DEAFNESS OR LENTICONUS .
WOMEN ARE GENERALLY UNDERDIAGNOSED AND LESS SEVERELY AFFECTED THAN MALES .
CLASSIC AS - GLOMERULAR BASEMENT MEMBRANE IS UP TO FIVE TIMES THICKER THAN NORMAL AND THE LAMINA DENSA IS DISTORTED AND SPLIT.
THE X LINKED FORM IS GENERALLY ASSOCIATED WITH MUTATIONS IN THE COL4A5 GENE AND THE X LINKED FORM WITH LEIMYOMATOSIS - COL4A5 AND COL4A6.
TYPE IV COLLAGEN MUTATIONS - XLINKED AND AUTOSOMAL RECESSIVE FORMS.
RENAL TRANSPLANTATION IS USUALLY SUCCESFUL
1- classic AS - inherited as an x linked disorder with HEMATURIA , SENSORINEURAL
DEAFNESS AND CONICAL DEFORMATION OF THE ANTERIOR SURFACE OF THE LENS
also called as LENTICONUS .
2-a subtype of the x linked form associated with DIFFUSE LEIOMYOMATOSIS
3- an autosomal recessive form
4- an autosomal dominant form .
------------------------------------------
THE TWO AUTOSOMAL FORMS CAN CAUSE RENAL DISEASE WITHOUT DEAFNESS OR LENTICONUS .
WOMEN ARE GENERALLY UNDERDIAGNOSED AND LESS SEVERELY AFFECTED THAN MALES .
CLASSIC AS - GLOMERULAR BASEMENT MEMBRANE IS UP TO FIVE TIMES THICKER THAN NORMAL AND THE LAMINA DENSA IS DISTORTED AND SPLIT.
THE X LINKED FORM IS GENERALLY ASSOCIATED WITH MUTATIONS IN THE COL4A5 GENE AND THE X LINKED FORM WITH LEIMYOMATOSIS - COL4A5 AND COL4A6.
TYPE IV COLLAGEN MUTATIONS - XLINKED AND AUTOSOMAL RECESSIVE FORMS.
RENAL TRANSPLANTATION IS USUALLY SUCCESFUL
6- alcohol withdrawal syndrome
1- once the brain has been repeatedly exposed to high doses of alcohol , any sudden decrease can produce withdrawal symptoms , many of which are the opposite of those produced by intoxication .
2- features include
a- tremor of the hands ( shakes or jitters )
b- agitation and anxiety
c- autonomic nervous system overactivity including an increase in the pulse , respiratory rate and body temperature
d- insomnia possibly accompanied by bad dreams
e- gastro intestinal upset
f- seizures sometimes too
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DELIRIUM TREMENS refers to the delirium ( mental confusion , agitation and fluctuating levels of consciousness ) , associated with a tremor and autonomic over activity ( eg : marked increase in pulse , blood pressure and respirations )
fortunately this serious and life threatening complication of alcohol withdrawal is seen in less than 5 % of alcohol dependent individuals , with the result that the chance of DT s during any single withdrawal is less than 1 %
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just to tell u drugs used to treat alcohol dependance are DISULFIRAM , ACAMPROSATE AND NATREXONE .
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2- features include
a- tremor of the hands ( shakes or jitters )
b- agitation and anxiety
c- autonomic nervous system overactivity including an increase in the pulse , respiratory rate and body temperature
d- insomnia possibly accompanied by bad dreams
e- gastro intestinal upset
f- seizures sometimes too
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DELIRIUM TREMENS refers to the delirium ( mental confusion , agitation and fluctuating levels of consciousness ) , associated with a tremor and autonomic over activity ( eg : marked increase in pulse , blood pressure and respirations )
fortunately this serious and life threatening complication of alcohol withdrawal is seen in less than 5 % of alcohol dependent individuals , with the result that the chance of DT s during any single withdrawal is less than 1 %
---------------------------------
just to tell u drugs used to treat alcohol dependance are DISULFIRAM , ACAMPROSATE AND NATREXONE .
----------------------
5-alagille syndrome
1- arterio hepatic dysplasia
2- genetic locus - 20 p 12
3- peripheral pulmonic stenosis and pulmonic stenosis are the major CVS anamolies
4- biliary hypoplasia , vertebral anamolies , prominent forehead , deep set eyes are the major non cardiac abnormalities .
2- genetic locus - 20 p 12
3- peripheral pulmonic stenosis and pulmonic stenosis are the major CVS anamolies
4- biliary hypoplasia , vertebral anamolies , prominent forehead , deep set eyes are the major non cardiac abnormalities .
4- ahlstrom syndrome
1- one among the five ( prader willi -sporadic ) hereditary syndromes of obesity.
2- obesity , HYPOGONADISM ONLY IN MALES BUT NOT IN FEMALES , NO MENTAL RETARDATION OR normal intelligence .
3- type of obesity is truncal obesity which is early in onset , mostly between the second and fifth years of life.
4- AUTOSOMAL RECESSIVE TYPE OF INHERITANCE
5- no limbic abnormalities and the stature is normal or infrequently short .
6- no distinctive cranio facial features .
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the other four syndromes associated with obesity are :
1- PRADER WILLI SYNDROME
2- LAWRENCE MOON BIEDL SYNDROME
3- COHEN SYNDROME
4- CARPENTER SYDROME
2- obesity , HYPOGONADISM ONLY IN MALES BUT NOT IN FEMALES , NO MENTAL RETARDATION OR normal intelligence .
3- type of obesity is truncal obesity which is early in onset , mostly between the second and fifth years of life.
4- AUTOSOMAL RECESSIVE TYPE OF INHERITANCE
5- no limbic abnormalities and the stature is normal or infrequently short .
6- no distinctive cranio facial features .
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the other four syndromes associated with obesity are :
1- PRADER WILLI SYNDROME
2- LAWRENCE MOON BIEDL SYNDROME
3- COHEN SYNDROME
4- CARPENTER SYDROME
3- acute coronary syndrome ( ACS )
- patients with ischemic heart disease fall into two large groups .... they are
a- patients with stable angina secondary to chronic coronary artery disease
b- patients with acute coronary syndrome ( ACS ) - composed of patients with-----
b1)acute myocardial infarction with ST segment elevation on their presenting ECG
( STEMI - ST ELEVATION MI )
b2 ) and those with unstable angina ( U A ) and non ST segment elevation MI
( U A / NSTEMI )
a- patients with stable angina secondary to chronic coronary artery disease
b- patients with acute coronary syndrome ( ACS ) - composed of patients with-----
b1)acute myocardial infarction with ST segment elevation on their presenting ECG
( STEMI - ST ELEVATION MI )
b2 ) and those with unstable angina ( U A ) and non ST segment elevation MI
( U A / NSTEMI )
2- hand foot syndrome
1- clinical manifestation of the sickle cell anaemia
2- caused by painful infarcts of the digits and dactylitis - HAND FOOT SYNDROME
3- out of the context but still just to tell u , IN SICKLE CELL ANAEMIA THE STROKE IS ESPECIALLY COMMON IN CHILDREN , A SMALL SUBSET OF WHOM TEND TO SUFFER REPEATED EPISODES , STROKE IS LESS OFTEN IN ADULTS AND IS OFTEN HEMORRHAGIC.
4- acute venous obstruction of the spleen in sickle cell anemia patients is called SPLENIC SEQUESTRATION CRISIS , rare occurence in early childhood .
5- spleen is frequently lost within the first 18 to 36 months of life causing susceptibility to infection particularly the PNEUMOCOCCI in sickle cell anaemia children.
2- caused by painful infarcts of the digits and dactylitis - HAND FOOT SYNDROME
3- out of the context but still just to tell u , IN SICKLE CELL ANAEMIA THE STROKE IS ESPECIALLY COMMON IN CHILDREN , A SMALL SUBSET OF WHOM TEND TO SUFFER REPEATED EPISODES , STROKE IS LESS OFTEN IN ADULTS AND IS OFTEN HEMORRHAGIC.
4- acute venous obstruction of the spleen in sickle cell anemia patients is called SPLENIC SEQUESTRATION CRISIS , rare occurence in early childhood .
5- spleen is frequently lost within the first 18 to 36 months of life causing susceptibility to infection particularly the PNEUMOCOCCI in sickle cell anaemia children.
1- acute chest syndrome
1- clinical manifestation of sickle cell anaemia
2- chest pain , tachypnea , fever , cough and arterial oxygen desaturation.
3- can mimic pneumonia , pulmonary emboli , bone marrow infarction and embolism , myocardial ischemia or in situ lung infarction .
4- pulmonary infarction or pneumonia are the most frequent underlying conditions or concomitant conditions .
5-repeated episodes correlate with reduced survival
6-chronic acute or subacute pulmonary crises lead to pulmonary hypertension and corpulmonale an increasingly common cause of death as patients survive into adult life.
2- chest pain , tachypnea , fever , cough and arterial oxygen desaturation.
3- can mimic pneumonia , pulmonary emboli , bone marrow infarction and embolism , myocardial ischemia or in situ lung infarction .
4- pulmonary infarction or pneumonia are the most frequent underlying conditions or concomitant conditions .
5-repeated episodes correlate with reduced survival
6-chronic acute or subacute pulmonary crises lead to pulmonary hypertension and corpulmonale an increasingly common cause of death as patients survive into adult life.
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