Hemophilia A and B are X-linked bleeding disorders caused by deficiencies of coagulation factors VIII and IX respectively. Hemophilia A is more common, affecting about 1 in 5,000-10,000 live male births. The disorders are inherited but only affect males, with female carriers able to pass the gene to their sons or daughters. Common clinical manifestations include hemarthrosis, hematomas, and intracranial bleeding. Treatment involves replacement of the missing coagulation factor, initially through plasma-derived or recombinant products, with the goal of preventing bleeds or treating acute bleeds.
1-Overview of clotting mechanisms.
2-different lab investigation for bleeding disorder.
3-hemophilia, clinical presentation and its types.
4-Molecular basis and inheritance of hemophilia.
5-mechanisims of family and patient pedigree.
a powerpoint on hemophilia i needed to make.
**if you want to join an online class if you are interested in history, science, math, english, and other things, join my class!!**
Hemophilia is a bleeding disorder that slows down the blood clotting process. People who have hemophilia often have longer bleeding after an injury or surgery. People who have severe hemophilia have spontaneous bleeding into the joints and muscles. Hemophilia occurs more commonly in males than in females.The two most common types of hemophilia are hemophilia A (also known as classic hemophilia) and hemophilia B (also known as Christmas disease). People who have hemophilia A have low levels of a blood clotting factor called factor eight (FVIII). People who have hemophilia B have low levels of factor nine (FIX).
The two types of hemophilia are caused by permanent gene changes (mutations) in different genes. Mutations in the FVIII gene cause hemophilia A. Mutations in the FIX gene cause hemophilia B. Proteins made by these genes have an important role in the blood clotting process. Mutations in either gene keep clots from forming when there is an injury, causing too much bleeding that can be difficult to stop
Hemophilia A is the most common type of this condition. One in 5,000 to 10,000 males worldwide have hemophilia A. Hemophilia B is less common, and it affects 1 in 20,000 to 34,500 males worldwide.
1-Overview of clotting mechanisms.
2-different lab investigation for bleeding disorder.
3-hemophilia, clinical presentation and its types.
4-Molecular basis and inheritance of hemophilia.
5-mechanisims of family and patient pedigree.
a powerpoint on hemophilia i needed to make.
**if you want to join an online class if you are interested in history, science, math, english, and other things, join my class!!**
Hemophilia is a bleeding disorder that slows down the blood clotting process. People who have hemophilia often have longer bleeding after an injury or surgery. People who have severe hemophilia have spontaneous bleeding into the joints and muscles. Hemophilia occurs more commonly in males than in females.The two most common types of hemophilia are hemophilia A (also known as classic hemophilia) and hemophilia B (also known as Christmas disease). People who have hemophilia A have low levels of a blood clotting factor called factor eight (FVIII). People who have hemophilia B have low levels of factor nine (FIX).
The two types of hemophilia are caused by permanent gene changes (mutations) in different genes. Mutations in the FVIII gene cause hemophilia A. Mutations in the FIX gene cause hemophilia B. Proteins made by these genes have an important role in the blood clotting process. Mutations in either gene keep clots from forming when there is an injury, causing too much bleeding that can be difficult to stop
Hemophilia A is the most common type of this condition. One in 5,000 to 10,000 males worldwide have hemophilia A. Hemophilia B is less common, and it affects 1 in 20,000 to 34,500 males worldwide.
A presentation about DIC (Disseminated Intravascular Coagulopathy).
Done by 4th year medical students at the University of Science and Technology, Sana'a, Republic of Yemen, in October 2010.
Factor v deficiency is rare
first described in a Norwegian patient in 1943, Identified by Dr. Paul Owren .
Fewer than 200 cases of congenital factor V deficiency have been reported worldwide since 1943.
inheritance of factor V deficiency is autosomal recessive.
usually only needed for severe bleeds or before surgery.
there is no concentrate containing only factor V.
fresh plasma or (FFP) infusions are used to correct the deficiency temporarily and should be given daily during a bleeding episode.
Deep Vein Thrombosis and Pulmonary Embolism, by Prof. Minnu M. PanditraoMinnu Panditrao
Dr. Mrs. Minnu Panditrao, goes in depth with the very important topic of Deep Vein Thrombosis, Pulmonary embolism, aetio patheogenesis, clinical features, management etc.
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.
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Ve...kevinkariuki227
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
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New Directions in Targeted Therapeutic Approaches for Older Adults With Mantl...i3 Health
i3 Health is pleased to make the speaker slides from this activity available for use as a non-accredited self-study or teaching resource.
This slide deck presented by Dr. Kami Maddocks, Professor-Clinical in the Division of Hematology and
Associate Division Director for Ambulatory Operations
The Ohio State University Comprehensive Cancer Center, will provide insight into new directions in targeted therapeutic approaches for older adults with mantle cell lymphoma.
STATEMENT OF NEED
Mantle cell lymphoma (MCL) is a rare, aggressive B-cell non-Hodgkin lymphoma (NHL) accounting for 5% to 7% of all lymphomas. Its prognosis ranges from indolent disease that does not require treatment for years to very aggressive disease, which is associated with poor survival (Silkenstedt et al, 2021). Typically, MCL is diagnosed at advanced stage and in older patients who cannot tolerate intensive therapy (NCCN, 2022). Although recent advances have slightly increased remission rates, recurrence and relapse remain very common, leading to a median overall survival between 3 and 6 years (LLS, 2021). Though there are several effective options, progress is still needed towards establishing an accepted frontline approach for MCL (Castellino et al, 2022). Treatment selection and management of MCL are complicated by the heterogeneity of prognosis, advanced age and comorbidities of patients, and lack of an established standard approach for treatment, making it vital that clinicians be familiar with the latest research and advances in this area. In this activity chaired by Michael Wang, MD, Professor in the Department of Lymphoma & Myeloma at MD Anderson Cancer Center, expert faculty will discuss prognostic factors informing treatment, the promising results of recent trials in new therapeutic approaches, and the implications of treatment resistance in therapeutic selection for MCL.
Target Audience
Hematology/oncology fellows, attending faculty, and other health care professionals involved in the treatment of patients with mantle cell lymphoma (MCL).
Learning Objectives
1.) Identify clinical and biological prognostic factors that can guide treatment decision making for older adults with MCL
2.) Evaluate emerging data on targeted therapeutic approaches for treatment-naive and relapsed/refractory MCL and their applicability to older adults
3.) Assess mechanisms of resistance to targeted therapies for MCL and their implications for treatment selection
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
Prix Galien International 2024 Forum ProgramLevi Shapiro
June 20, 2024, Prix Galien International and Jerusalem Ethics Forum in ROME. Detailed agenda including panels:
- ADVANCES IN CARDIOLOGY: A NEW PARADIGM IS COMING
- WOMEN’S HEALTH: FERTILITY PRESERVATION
- WHAT’S NEW IN THE TREATMENT OF INFECTIOUS,
ONCOLOGICAL AND INFLAMMATORY SKIN DISEASES?
- ARTIFICIAL INTELLIGENCE AND ETHICS
- GENE THERAPY
- BEYOND BORDERS: GLOBAL INITIATIVES FOR DEMOCRATIZING LIFE SCIENCE TECHNOLOGIES AND PROMOTING ACCESS TO HEALTHCARE
- ETHICAL CHALLENGES IN LIFE SCIENCES
- Prix Galien International Awards Ceremony
The prostate is an exocrine gland of the male mammalian reproductive system
It is a walnut-sized gland that forms part of the male reproductive system and is located in front of the rectum and just below the urinary bladder
Function is to store and secrete a clear, slightly alkaline fluid that constitutes 10-30% of the volume of the seminal fluid that along with the spermatozoa, constitutes semen
A healthy human prostate measures (4cm-vertical, by 3cm-horizontal, 2cm ant-post ).
It surrounds the urethra just below the urinary bladder. It has anterior, median, posterior and two lateral lobes
It’s work is regulated by androgens which are responsible for male sex characteristics
Generalised disease of the prostate due to hormonal derangement which leads to non malignant enlargement of the gland (increase in the number of epithelial cells and stromal tissue)to cause compression of the urethra leading to symptoms (LUTS
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.
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The "New Drug Discovery and Development" process involves the identification, design, testing, and manufacturing of novel pharmaceutical compounds with the aim of introducing new and improved treatments for various medical conditions. This comprehensive endeavor encompasses various stages, including target identification, preclinical studies, clinical trials, regulatory approval, and post-market surveillance. It involves multidisciplinary collaboration among scientists, researchers, clinicians, regulatory experts, and pharmaceutical companies to bring innovative therapies to market and address unmet medical needs.
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- Video recording of this lecture in English language: https://youtu.be/lK81BzxMqdo
- Video recording of this lecture in Arabic language: https://youtu.be/Ve4P0COk9OI
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- Link to NephroTube social media accounts: https://nephrotube.blogspot.com/p/join-nephrotube-on-social-media.html
3. Definition
• Hemophilia- “love of bleeding”
• 2 types: A and B
• Hemophilia A:
• X linked recessive hereditary
disorder that is due to defective or
deficient factor VIII
4. Incidence
• It is the second most common inherited
clotting factor abnormality (after von
Willebrand disease)
• 1 in 5000-10000 live male births
• No difference between racial groups
5.
6. Genetics
• Transmitted by females, suffered by males
• The female carrier transmits the disorder to half their sons
and the carrier state to half her dtrs
• The affected male does not transmit the disease to his
sons (Y is nl) but all his dtrs are all carriers (transmission
of defected X)
8. Hemophilia A
Factor VIII deficiency
1 in 5000-10000 males
60% with severe disease
Actvitiy < 1%
9. Hemophilia B
Factor IX deficiency
1 in 25000-35000 males
30% spontaneous mutation
50% with mild to moderate
disease
Activity > 1%
Christmas disease (1952)
10.
11.
12.
13. •Deficiency of factor VIII or IX affects the propagation phase
of coagulation
•Most likely to cause bleeding in situations where tissue
factor exposure is relatively low
14. Bleeds in Hemophilia
• Minor Bleeds
– Oral mucosa
– Intra-articular
– GI/GU
– Intramuscular
• Major Bleeds
17. Clinical Manifestations:
•
Hemarthrosis
The most common, painful and most physically,
economically and psychologically debilitating
manifestation.
• Clinically:
Aura: tingling warm sensation
Excruciating pain
Generally affects one joint at the time
Most commonly: knee; but there are others as elbows,
wrists and ankles.
Edema, erythema, warmth and LOM
If treated early it can subside in 6 to 8 hs and
disappear in 12 to 24 hs.
Ddx: DJD
Complications: Chronic involvement with joint
deformity complicated by muscle atrophy and soft
20. Clinical Manifestations
Hematomas
• Subcutaneous and muscular hematomas spread within
fascial spaces, dissecting deeper structures
• Subcutaneous bleeding spreads in characteristic manner- in
the site of origin the tissue is indurated purplish black and
when it extends the origin starts to fade
• May compress vital structures: such as the airway if it is
bleeding into the tongue throat or neck; it can compromise
arteries causing gangrene and ischemic contractures are
common sequelae, especially of calves and forearms
• Muscle hematomas: 1)calf,2)thigh,3)buttocks,4)forearms
• Psoas hematoma- if right sided may mimic acute
appendicitis
• Retroperitoneal hematoma: can dissect through the
diaphragm into the chest compromising the airway. It can
also compromise the renal function if it compresses the
ureter
21. Clinical manifestations
Pseudotumors
• Dangerous and rare
complication
• Blood filled cysts that are
gradually expanding
• Occur in soft tissues or
bones.
• Most commonly in the thigh
A pseudotumor is deforming the cortex of the femur (arrow). • As they increase in size they
Other ossified masses in the soft tissues (arrowheads) are
probably soft-tissue pseudotumors. erode contiguous structures.
• May require radical surgeries
or amputation, and surgery is
often complicated with
infection
22. Clinical manifestations
Intracranial
hemorrhage
• Leading cause of death of
hemophiliacs
• Spontaneous or following
trauma
• May be subdural, epidural or
intracerebral
• Suspect always in hemophilic
patient that presents with
unusual headache
• If suspected- FIRST TREAT,
then pursue diagnostic
workup
• LP only when fVIII has been
replaced to more than 50%
23. Clinical manifestations
Severity F VIII activity Clinical manifestations
Spontaneous hemorrhage from early infancy
Severe <1%
Freq sp hemarthrosis
Hemorrhage sec to trauma or surgery
Moderate 2-5%
Occ sp hemarthrosis
Hemorrhage sec to trauma or surgery
Mild >5%
Rare sp bleeding
• Frequency and severity of bleeding are related to F VIII levels
Coinheritance of prothrombotic mutations (i.e. Factor V Leiden) can
decrease the risk of bleeding
24. History taking
• sign of Hemorrhage
• Family history
• infection related transfusion:
• HIV, hepatitis realated symptom
25. Physical examination
• Sign of bleeding
• Vital sign: tachycardia, tachypnea, hypotension,
orthostasis
• Organ system-specific sign of hemorrhage:
• MSK, CNS, GI, GUT
26. Hemophilia: Work-up
Hgb/Hct nml/low
PT nml
aPTT high/nml
Platelets nml
Factor levels (50-150%)
Mild > 5%
Moderate 1-5%
Severe < 1%
Inhibitor levels
Low titer 0-10 Bethesda U
High titer > 10 Bethesda U
29. Normal PT
Abnormal PTT
50:50 mix is
Repeat abnormal
with Test for inhibitor activity:
50:50 Specific factors: VIII,IX, XI
mix Non-specific (anti-phospholipid Ab)
50:50 mix is normal
Test for factor deficiency:
Isolated deficiency in intrinsic pathway
(factors VIII, IX, XI)
Multiple factor deficiencies (rare)
31. •Give factor q 12 hours for 2-3 days after major surgery, continue with daily infusions for 7-10 days
•Trough factor levels with q 12 h dosing after major surgery should be at least 50-75%
•Most joint and muscle bleeds can be treated with “minor” (50%) doses for 1-3 days without
monitoring
32. Treatment: The Old Days
Factor replacement
Units = (wt[kg]) x (50mL plasma/kg) x (1 U factor/mL plasma) x
(desired factor level – native factor level)
FFP: 10-20 mL/kg BB will increase factor level 20-30%
Number of unit : desire dose (mL)/200 mL/unit
Plasma concentrates
Thousands of donors
Hepatitis B, C
HIV (60-70%)
35. Factor VIII containing
products
Factor VIII, human plasma
derived :
Monarc M, Monoclonat, hemofil
M, Koate-DVI, recombinate,
kogenate, helixate, advate,
xyntha
35
36. Factor VIII concentrates differ in purity and
manufacturing processes
Plasma-derived Recombinant
Intermediate High Ultrapure Standard Human albumin-
free
Humate-P Koate-HP Hemofil-M Recombinate Advate
Alphanate Monoclate Kogenate ReFacto-AF
Monarc-M Helixate
ReFacto
37. A little about cost
Product Cost/dose
Recombinant FVIII $4400
Monoclonal FVIII $3300
BeneFIX $8800
Mononine $8300
FEIBA $5000
NovoSeven $6500 x 2
38. Other meds
•Amicar (epsilon aminocaproic
acid) (antifibrinolytic)
•DDAVP (antihemophilic)
39. Von Willebrand
Disease
• Inherited
• Deficiency or dysfunction of vWF
• vWF, a large, multimeric glycoprotein
• mediate adhesion of platelet
• bind and stabilized procoagulant FVIII
40. vWF
• 125/1.000.000
• severe disease only 0.5-5/million
• Male and female equaly
• mild and manageable bleeding
42. Work Up
• Bleeding time
• PT and aPTT
• vWD Factor Antigen
• Ristocetin activity
• vWD multimeric Panel
• Genetic Testing
43. Presentation
• Easily bruising
• prolonged bleeding
• severe hemorrhage after surgery
• menorrhagia
• Physical finding: usually normal, only sign of
bleeding or bruises
44. Treament
• Desmopressin DDAVP
• 150 mcg intra nasal 2 h prior to
procedure
• Transfusion: Cryoprecipitate
• Plasma derived: Humate-P (intermediate)
45. Disorder BT Plt PT aPTT TT Fib
Vasculopathie
s, connective
tissue
Normal or
diseases, or Long Normal Normal Normal Normal
increased*
collagen
disorders
affecting skin
Thrombocyto
Long Low Normal Normal Normal Normal
penia
Qualitative
Normal or
platelet Long Normal Normal Normal Normal
low•
abnormalities
Hemophilia A
(factor VIII Normal Normal Normal Long Normal Normal
deficiency)
von
Willebrand Long Normal** Normal LongΔ Normal Normal
disease
Disseminated
intravascular Long Low Long Long Long Low
coagulation