1. The study examined gene frequencies and disease characteristics of sickle cell disease among tribal and Chetti communities in Wayanad district, Kerala, India.
2. Gene frequencies for the sickle cell trait ranged from 1.9-19.6% across communities, with the highest in Wayanadan Chettis. Many homozygotes were observed with the oldest being 48 years old.
3. The disease was mild in 52.2% of cases, with painful crises in 43.5% and splenomegaly and leg ulcers each in 4.3%. Survival of patients appears higher in Kerala than other states.
A presentation made about Sickle cell disease by Yara Mostafa, Yasser Osama, Yaser Mostafa ,Ain shams university, Medicine faculty, first year students.
This a series of notes on hematology useful for undergraduate and postgraduate medical and paramedical students. Notes are prepared from standard texts and are easy to reproduce in exams.
A presentation made about Sickle cell disease by Yara Mostafa, Yasser Osama, Yaser Mostafa ,Ain shams university, Medicine faculty, first year students.
This a series of notes on hematology useful for undergraduate and postgraduate medical and paramedical students. Notes are prepared from standard texts and are easy to reproduce in exams.
Sickle Cell disease: is a genetic disorder that affects erythrocytes (RBC) causing them
to become sickle or crescent shaped.
The effects of this condition due to an abnormality of the hemoglobin molecules found
in erythrocytes.
Sickle cell anemia is a serious disease in which the body makes sickle-shaped red blood
cells. “Sickle-shaped” means that the red blood cells are shaped like a "C."
Normal red blood cells are disc-shaped and look like doughnuts without holes in the
center. They move easily through your blood vessels. Red blood cells contain the
protein hemoglobin. This iron-rich protein gives blood its red color and carries oxygen
from the lungs to the rest of the body.
Sickle cell Anemia is known as being a fatal hereditary form of anemia, it is recognized
by its abnormal red blood cells having a crescent shape due to the effect of hemoglobin
S found in the cells.
Sickle Cell disease: is a genetic disorder that affects erythrocytes (RBC) causing them
to become sickle or crescent shaped.
The effects of this condition due to an abnormality of the hemoglobin molecules found
in erythrocytes.
Sickle cell anemia is a serious disease in which the body makes sickle-shaped red blood
cells. “Sickle-shaped” means that the red blood cells are shaped like a "C."
Normal red blood cells are disc-shaped and look like doughnuts without holes in the
center. They move easily through your blood vessels. Red blood cells contain the
protein hemoglobin. This iron-rich protein gives blood its red color and carries oxygen
from the lungs to the rest of the body.
Sickle cell Anemia is known as being a fatal hereditary form of anemia, it is recognized
by its abnormal red blood cells having a crescent shape due to the effect of hemoglobin
S found in the cells.
A comprehensive presentation on Sickle cell anemia for medical ,dental ,Biotechnology & pharmacology students.
presentation represents occurrence of sickle cell in India & world wide. Molecular mechanism of Sickling of RBC has been described.Comparison of Homozygous & Heterozygous Sickle cell disease is presented along with electrophoretiic patterns. Abnormalities associated with HbS is illustrated. Various diagnostic tests for detection of sickle anemia are described for perusal of technologists. Inheritance & management of disease are added features of presentation .Text is supported by relevant Google images for more impact of disease concept.
case presentation on diagnosis of beta thalassemia majorDrShinyKajal
case history of 9 month old infant
Paediatric Clinical Approach to this case
examination
workup at blood centre
HPLC screening
laboratory findings
screening of father mother
prominent facial features
PBF and bone marrow findings
usg abdomen
xray skull
prbc transfusion therapy in thalassemia major
classification of thalassemia
national burden in india
pathogenesis- anemia skull bone iron overload
world thalassemia day
SICKELE CELL DISEASE MODULE 3 SEJOJO.pptx TO BE PRESENTED. IN TRAININGS.pptxSEJOJO PHAAROE
Sickle cell anemia is a genetic disorder whereby red blood cells are abnormally shaped, causing problems with the flow of blood through the body as well as transport of oxygen throughout the body
inheritance is Autosomal because its a blood disorder and systemic disorder
its caused by mutation on B-chain of the globulin chain , where red blood cells (RBCs) become sickle/crescent shaped
Cells get destroyed in narrowed thin blood capillaries , RE system and cause anaemia Blockage in thin layers body
p
r
r
1-Differentiate between the different causes of anemia
2. Discuss the investigations that may clarify the diagnosis
3. Recognize the predisposing factors and consequences of iron deficiency anemia and discuss how to manage it
4. Discuss the hereditary basis and clinical features of sickle cell anemia and thalassemia .
prepared by med_students0
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdfAnujkumaranit
Artificial intelligence (AI) refers to the simulation of human intelligence processes by machines, especially computer systems. It encompasses tasks such as learning, reasoning, problem-solving, perception, and language understanding. AI technologies are revolutionizing various fields, from healthcare to finance, by enabling machines to perform tasks that typically require human intelligence.
Couples presenting to the infertility clinic- Do they really have infertility...Sujoy Dasgupta
Dr Sujoy Dasgupta presented the study on "Couples presenting to the infertility clinic- Do they really have infertility? – The unexplored stories of non-consummation" in the 13th Congress of the Asia Pacific Initiative on Reproduction (ASPIRE 2024) at Manila on 24 May, 2024.
Anti ulcer drugs and their Advance pharmacology ||
Anti-ulcer drugs are medications used to prevent and treat ulcers in the stomach and upper part of the small intestine (duodenal ulcers). These ulcers are often caused by an imbalance between stomach acid and the mucosal lining, which protects the stomach lining.
||Scope: Overview of various classes of anti-ulcer drugs, their mechanisms of action, indications, side effects, and clinical considerations.
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
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Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
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Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
ASA GUIDELINE
NYSORA Guideline
2 Case Reports of Gastric Ultrasound
These lecture slides, by Dr Sidra Arshad, offer a quick overview of physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar leads (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
Explore natural remedies for syphilis treatment in Singapore. Discover alternative therapies, herbal remedies, and lifestyle changes that may complement conventional treatments. Learn about holistic approaches to managing syphilis symptoms and supporting overall health.
MANAGEMENT OF ATRIOVENTRICULAR CONDUCTION BLOCK.pdfJim Jacob Roy
Cardiac conduction defects can occur due to various causes.
Atrioventricular conduction blocks ( AV blocks ) are classified into 3 types.
This document describes the acute management of AV block.
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?bkling
Are you curious about what’s new in cervical cancer research or unsure what the findings mean? Join Dr. Emily Ko, a gynecologic oncologist at Penn Medicine, to learn about the latest updates from the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women’s Cancer. Dr. Ko will discuss what the research presented at the conference means for you and answer your questions about the new developments.
Title: Sense of Taste
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the structure and function of taste buds.
Describe the relationship between the taste threshold and taste index of common substances.
Explain the chemical basis and signal transduction of taste perception for each type of primary taste sensation.
Recognize different abnormalities of taste perception and their causes.
Key Topics:
Significance of Taste Sensation:
Differentiation between pleasant and harmful food
Influence on behavior
Selection of food based on metabolic needs
Receptors of Taste:
Taste buds on the tongue
Influence of sense of smell, texture of food, and pain stimulation (e.g., by pepper)
Primary and Secondary Taste Sensations:
Primary taste sensations: Sweet, Sour, Salty, Bitter, Umami
Chemical basis and signal transduction mechanisms for each taste
Taste Threshold and Index:
Taste threshold values for Sweet (sucrose), Salty (NaCl), Sour (HCl), and Bitter (Quinine)
Taste index relationship: Inversely proportional to taste threshold
Taste Blindness:
Inability to taste certain substances, particularly thiourea compounds
Example: Phenylthiocarbamide
Structure and Function of Taste Buds:
Composition: Epithelial cells, Sustentacular/Supporting cells, Taste cells, Basal cells
Features: Taste pores, Taste hairs/microvilli, and Taste nerve fibers
Location of Taste Buds:
Found in papillae of the tongue (Fungiform, Circumvallate, Foliate)
Also present on the palate, tonsillar pillars, epiglottis, and proximal esophagus
Mechanism of Taste Stimulation:
Interaction of taste substances with receptors on microvilli
Signal transduction pathways for Umami, Sweet, Bitter, Sour, and Salty tastes
Taste Sensitivity and Adaptation:
Decrease in sensitivity with age
Rapid adaptation of taste sensation
Role of Saliva in Taste:
Dissolution of tastants to reach receptors
Washing away the stimulus
Taste Preferences and Aversions:
Mechanisms behind taste preference and aversion
Influence of receptors and neural pathways
Impact of Sensory Nerve Damage:
Degeneration of taste buds if the sensory nerve fiber is cut
Abnormalities of Taste Detection:
Conditions: Ageusia, Hypogeusia, Dysgeusia (parageusia)
Causes: Nerve damage, neurological disorders, infections, poor oral hygiene, adverse drug effects, deficiencies, aging, tobacco use, altered neurotransmitter levels
Neurotransmitters and Taste Threshold:
Effects of serotonin (5-HT) and norepinephrine (NE) on taste sensitivity
Supertasters:
25% of the population with heightened sensitivity to taste, especially bitterness
Increased number of fungiform papillae
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...VarunMahajani
Disruption of blood supply to lung alveoli due to blockage of one or more pulmonary blood vessels is called as Pulmonary thromboembolism. In this presentation we will discuss its causes, types and its management in depth.
2. I am the red of the blood responsible for
respiration;
Deliver oxygen to tissues and return co2 to
lungs;
influenced by factors ph, BPG, Cl in my
functions;
disturbed in duties by structural abnormalities.
3. Hb is tetrameric protein
Consists of heme and globin .
HEME
Red cell to blood
Contains porphyrin molecule pp9 with fe at
centre
4 pyrrole rings iron at centre .
Iron binds with aa histidine of globin
Also binds to o2.
4. globin :consist of two pairs of polypeptide chain.
(alpha & beta)
Abnormalities in these proteins leads to
hemoglobinopathies
Genes for hemoglobin production lies on
chromosome no 16 and 11 .
Chromosome 16 3 genes(zeta,alpha 1 n 2 ) ,chrom
11 5 genes(epsilon,2 gamma,delta genes,beta
genes )
Molecular weight of Hb is 64000
5. Hb A1- 97% of adult haemoglobin, consists of 2
alpha & 2 beta chains.
Hb A2- Consists of 2 alpha & 2 delta chains.
Hb F - 70 – 90% at birth, 25% by 1 month and
5% by 6months of age, consists of 2 alpha & 2
gamma chains.
6. In the year 1904 cardiologist and professor of
medicine James B Herrick found peculiar elongated
cells in blood of a 20 years old dental student who
was suffering from anemia.
Veron Mason in 1922 named SICKLE CELL
ANAEMIA.
Linus Pauling in 1940 demonstrated that sickling
occurs as a result of abnormality in haemoglobin
molecule.
Sickle cell disease is the first genetic disorder whose
molecular basis was known.
June 19th
is celebrated as World Sickle Cell Day
7.
8. Sickle cell disease in Wayanad, Kerala: gene
frequencies and disease characteristics.
Department of Pathology, Medical College,
Kerala, India.
A large number of patients with sickle cell
anaemia are seen at the Medical College,
Calicut from among the tribals and Chetti
communities of the adjacent Wayanad district.
We carried out a population-based study of
gene frequencies and disease characteristics to
plan an appropriate intervention.
9. methoDs:
CliniCal examination anD haemoglobin
eleCtrophoresis were Done in 1016
subjeCts belonging to the tribal anD
Chetti Communities in wayanaD DistriCt,
by visiting hamlets anD sChools anD
evaluating everyone present at the
time of the visit.
10. results:
the gene frequenCy of haemoglobin s
rangeD from 0.019 in KattunayaKan to 0.196 in
wayanaDan Chettis. wayanaDan Chettis, Kurumas anD
aDiyas showeD a high number of homozygotes with the
olDest being 48 years. the survival of homozygotes is
longer than what is generally reCorDeD in other
states. the Disease was milD in 52.2% of Cases. painful
Crises were founD in 43.5% anD splenomegaly anD leg
ulCers in 4.3% eaCh. the mean haemoglobin f rate in
homozygotes was 25.9%. it was higher in CliniCally milD
Cases anD in those showing an absenCe of irreversible
siCKle Cells in the peripheral smear.
11. ConClusions:
the survival of patients with siCKle
Cell anaemia seems to be higher in Kerala as
CompareD to other states. it appears that
even small improvements in primary health
Care available to the population (as in
Kerala) are suffiCient to aChieve this effeCt.
integration of Disease Diagnosis anD
management into the alreaDy existing health
Care Delivery system may leaD to even
better survival anD quality of life
12. 1. HOMOZYGOUS AND HETEROZYGOUS SICKLE
CELL DISEASES.
2. HOMOZYGOUS means mutant gene inherrited from
both parents (HbSS) i.e sickle cell anemia
3. HETEROZYGOUS means (HbAS) only one gene is
affected other one is normal i.e sickle cell trait.
4. Sickle cell disease----sickle cell anemia +sickle cell traits
5. Haemoglobin C (HbSC)
6. Haemoglobin E (HbSE)
7. Haemoglobin S beta Thalasseamia-This is a mild form
of sickle disorder.
13. Sickle cell anemia is a autosomal recessive
genetic disease that results from the
substitution of Valine from Glutamic acid in
position 6 of beta globin gene leading to
production of defective form of haemoglobin.
(Hb S)
Hb S is a structurally defective haemoglobin.
14. Hb s …sticky patches n receptors
Deoxy hbs ..sticky patches n receptors
Oxy hbs …only sticky patches n receptors
masked
Deoxy hba ..only receptors no sticky patches
So oxy hbs prevents sickling ..
15. Deoxygenation leads to hydrophobic
interaction between adjacent Hb S molecules.
Distortion of RBC into sickle form cells
Rapid haemolysis
Decreased elasticity of cell wall of RBC
Decreased life span 10 – 20 days.
Clogging of RBC in microcirculation.
19. Often first manifestation of sca
50% of children by 2 yrs of age
Symmetrical or unilateral swelling of the hands
Not to be confused with osteomyelitis as mgt
varies….
20.
21. Obstructed microcirculation leading to ischemic injury to
organ
1. Avascular necrosis
2. Acute chest syndrome
3. Acquired asplenia
4. Splenic sequestration
5. Hand foot syndrome
6. Papillary necrosis in kidneys
7. Hyposthenuria and enuresis
8. Cerebral infarction
9. Skin ulceration
10. Retinal hemorrhage and retinopathy
11. Priaprism
22. seriously ill appearance
hypotension sbp<70 @ 1 year of age,<70+2*age (in
year)
Poor perfusion crt>4 seconds
Temperature>40 c
Wbc>30000/<500
Platelet count <1 LAKH
H/O PNEUMOCOCCAL SEPSIS
Sever pain
Dehydration
Hb <5 gm
23. Acute splenic sequestration, pooling of blood in
the engorged spleen
Aplastic crisis – Seen in patients with parovrus B-
19 infection or folic acid deficiency leading to
decreased marrow
erythropoiesis..reticlopenia..dictum
Anemia
Pigmented gallstone
Jaundice
Delayed growth
24. Infectious crisis is due to functional asplenia and
deficiency of opsonin of alternate compliment
pathway.. decreased level of serum
immunoglobulin M (IGM) increasing susceptibility
to infections.
Haemophilius influenzae, streptococcus pneumoniae,
mycoplasma pneumoniae, salmonella typhimurium,
staphylococcus aureus, and escherichia coli are the
common causative microbes.
Common infections include pneumonia,
bronchitis, pyelonephritis, cystitis, osteomyelitis,
meningitis, and sepsis
25. Life threatening compli..
Spleen becomes enlarged and engorged with
decline in hb,hypovolemia
Etiology not known
Parents to be taught to palpate spleen and seek
intervention at the earliest.
26. Cardinal feature ..
May involve chest ,abdomen and extremities
Wonk baker Faces scale for pain
Cause is due to decreased blood flow in
microvessels resulting in tissue ischemia
27. Phase Pain charcteristics Comfort measure
Baseline No vaso occl pain
,complicaton may be
present
No measures
Pre pain Prodrome of vasoocc
signs +..
INC FLUIDS
Pain start point First signs of vo Mild analg,fluids ,
Pain acc Mild to moderate Stronger
anal,rubbing,heat,
Peak pain exp High mod to severe Oral analg round d clck,
Pain decreas frm start
point
Decrease frm peak Caregivers console not
active
Steady pain decline Decr mre rapidly Wean frm iv analgesi
Pain resolution Tolerable pain
Normal
Oral analg
28. Involuntary penile erection lasting for more than 30
min ..for an hour suggests priapism
Ventral portion of glans of the penis is not involved
Types
Stuttering and refractory types
Former self limiting,intermittent bouts
Latter continuous for hour
Rx is sitz bath for acute mgt
Lasting >4 hrs then aspiration of blood from corpora
cavernosa followed by irrigation with epinephrine
Etilefrine is safe drug for priapism prevention.
29. CVS-Anemia and vasooclusive phenomena causing myocardial ischemia
and myocardial infarction, repeated blood transfusion leading to
restrictive cardiomyopathy.
Pulmonary-Acute chest syndrome
CNS-25% patient have TIA, strokes, cerebral hemorrhage,rpls reversible
post leuco encephalopathy syndrme.
Excessive iron stores ..occurs in children receiving regular
transfusion..mri r2* liver , r2 heart . deferasirox
Lung disease 2 nd most common
Acs…radiodensity acute+fever+respi distress+pain in chest or back
abdomen
Hepato biliary system-Gall stone recurrent abdominal pain,
autosplenectomy
Urinary system- Haematuria, hyposthenurea and renal failure
Ocular complication- Proliferative retinopathy, vitreous hemorrhage and
retinal detachment
Orthopedic – Hand foot syndrome, avascular necrosis of hip,
osteomyelitis
30.
31.
32.
33.
34.
35. 1. Young infants have recurrent edema of the dorsum of
hands and feet.
2. Infarction of cortex of long bones lead to prominent signs of
local inflammation.
3. Repeated infarction in the joints of large and small bones
lead to abnormal angled digits, malformed and frozen joints,
particularly at the knee and ankle.
4. Chronic leg ulcer is common in adolescent patients.
5. Abdominal examination may reveal splenomegaly if
sequestration is occurring otherwise the spleen is small in
size due to autoinfarction
6. Evidence of cholilethiasis is seen in patients as young as 3
years old.
7. By mid childhood most patients are underweight as
compared to children of their same age and height.
36.
37. 1. There is a higher rate of spontaneous abortion. A
miscarriage may happen up to 25% of the time.
2. There is ahigher rate of babies not surviving to birth
or being stillborn. 8-10% .
3. Birth weight is lower than average.
4. Infection is more common in women with sickle cell
disease during pregnancy, especially bladder
infection.
5. Increased chance of PIH and preeclampsia
6. Increased incidence of PPH.
38. Hb-6-8gm%
Reticulocytes high
Peripheral smear may show sickle cells
Features of hyposplenism :Target cells and
Howell- Jolley bodies seen
Sickling test with reducing agent Sodium
metabisulphide-na dithionite
Hb electrophoresis
High performance liquid chromatography(HPCL)
WBC may be elevated
Bilirubin may be elevated
Urinary cast may be seen or trace of RBC in urine
39. When subjected to electrophoresis in alkaline
medium sickle cell hb move towards anode
slow than does adult hb.
Slow mobility of hbs is due to absence of –ve
charge caused by loss of glutamate.
Incase sickle cell trait fast moving hba and slow
moving hba are seen.
41. Blood transfusion is currently the most
effective and proven treatment for severe
anemia of SCD, it significantly reduces crisis.
Blood transfusion reduces pain by increasing
the number of functioning RBC and by
increasing the oxygen caring capacity of blood
42. Bone marrow transplant is the closest thing
possible to the cure of SCA.
Helps in production of healthy RBC from
transplanted bone marrow
The success rate is 90 – 95%
43. Gene therapy is a relatively new idea of
inserting genes into the cells of an individual in
order to treat hereditary disease such as SCA,
in which a defective mutants alleles is replaced
with a functional one.
Gene therapy would be the best cure for SCA
in future, as of now it is on it’s experimental
stage.
44. Dialysis or kidney transplant for renal failure.
Cholecystectomy for pigmented cholelitheasis.
Hip replacement for avascular necrosis.
Surgery for eye problem.
Irrigation surgery for Priapism.
Wound care for leg ulcer.
45. 1. Genetic counseling
2. Pre implantation genetic diagnosis
3. High perfomance liquid chromatography to
detect hb phenotype. In new born ..
4. Perenatal testing -amniocentesis (16 – 18 wks)
and chorius villus sampling ( 9 -10 wks)
46. 1. Regular health check up & good hydration.
2. Vaccination for pneumonia, meningitis, influenza,
and hepatitis
3. Preventing infection – daily dose of penicillin
4. Preventing strokes – Transcranial doppler
ultrasound every 3 months.
5. Preventing eye damage – Fundus examination
every 3 months.
6. Avoid alcohol, smoking, cold climate, high
altitude exposure.
THERE ARE 4 MILLION SICKLE CELL DISEASED
PATIENTS WORLDWIDE
47. Malaria caused by plasmodium falciparum .
The parasite spends part of its cycle in
erythrocytes.so lysis interupts cycle
Mp increases acidity of erythrocytes which in
turn cause increased sickling to 40 % frm nrml
2%.therefore entry of mp cause incresased
sickling and lysis
Concn of pottasium is low in sickle cells
unfavourable for mp to survey
48.
49. Hb Gower 1-Confined to embryonic stage,
consists of 2 alpha & 2 epsilon chains.
Hb Gower 2-Consists of 2 alpha & 2 zeta
chains.
Hb Portland- Found in trace in neonates and
intrauterine life.
Hb –Brat’s –Found in small amount in cord
blood of neonates with thalasseamia.
50. New concepts in the field of priapism research
suggest that priapism often results from altered
vascular homeostatic actions in the penis and is
associated with deficient erection control
mechanisms on a molecular level.
A leading proposal in this regard is the
notion of aberrant signaling of the
endothelium-derived nitric oxide and PDE5
signal transduction pathway in the penis.
51. Additionally, dysfunctional regulatory control
of signal transduction systems which interact
with this pathway such as adenosine and
RhoA/Rho-kinase may contribute to the
development of priapism.Recent investigations
of opiorphins also demonstrate a role in
regulating corporal smooth muscle tone and
thereby dysregulation of erection physiology in
priapism. These advances have paved the way
for understanding this disorder as having a
molecular pathogenesis.
52. The Human Genome Project has provided
valuable insight and extensive
research advances in the understanding of the
human genome and sickle cell disease.
53. A 3.5-year-old girl from race of Arab reffered to Shafa Hospital with
severe anemia, thrombocytopenia, leucocytosis and elevated ESR and
LDH. Her parents assigned fever, cough, pallor, weakness and
tachypnea from six day ago (Figure 1).
Fig. 1
Chest x ray.
Past medical history and familial history of the patient was negative.
On physical examination, she had fever with temperature of 39.5°C,
severe pallor, pulse rate of 110 per minute, respiratory rate of 32 per
minute and blood pressure of 90/60 mmHg. On abdominal
examination, she had hepatosplenomegaly. Rales and rhonchi were in
both lung fields on respiratory examination while the other systemic
examination was essentially normal. Initial laboratory investigations
demonstrated hemoglobin of 4.5 gm/dL, white cell count of
19,000/mm(3) (55% neutrophils, 45% lymphocyte), platelet count of
70,000/mm(3) and an erythrocyte sedimentation rate of 45 mm/hour.
Renal function tests and urinalysis were normal. A chest radiograph
revealed bilateral haziness. For decline of malignancy, bone marrow
aspiration was done and discussed reactive bone marrow due to
infection.
ootnotes
54. After one day a dactylitis was present in hands
of the patient (Figure 2).
Fig. 2
Dactylitis.
In follow up of Hb electrophoresis, Hb s was 80%, Hb F: 18%, and
Hb A2: 2%. Finally in peripheral blood smear, sickling of RBC was
detected and the patient was diagnosed with sickle cell anemia
and acute splenic sequestration crisis which was associated with
acute chest syndrome treated with wide spectrum antibiotic
(cefotaxim and erythromycin) and transfusion exchange (Figure
3). The patient was discharged with stable clinical state after 8
days.
F
55. Fig. 3
Prepheral blood smears with sickle cell.
The clinical presentation of our patient is rare
and unusual for initial presentation of sickle
cell anemia. Also association between acute
chest syndrome and splenic sequestration is
unusual.
Go to:
56. Nelson 19th
edition
Biochemistry U satyanarayanan
William’s hematology
www.pubmed.com.