anemia and thalassemia genetic bases ,the molecular defects and pathophysiology of thalassemia , the diagnostic test that detect genetic mutation of thalassemia .
1• Define anemia and it's genetic bases.2• Describe thalassemia and it's genetic bases.3• What is the molecular defects and pathophysiology of thalassemia 4• Describe the diagnostic test that detect genetic mutation of thalassemia 5• Overview of pre-marital screening test.
A presentation made about Sickle cell disease by Yara Mostafa, Yasser Osama, Yaser Mostafa ,Ain shams university, Medicine faculty, first year students.
A presentation made about Sickle cell disease by Yara Mostafa, Yasser Osama, Yaser Mostafa ,Ain shams university, Medicine faculty, first year students.
This presentation contains an overall review of Thalassemia and its Etiology, Inheritance, Symptoms and treatment
Done by: Faten Al-Sadek , Pharmacy student at Mohammed Al-Mana college for Health Sciences -MACHS
This presentation contains an overall review of Thalassemia and its Etiology, Inheritance, Symptoms and treatment
Done by: Faten Al-Sadek , Pharmacy student at Mohammed Al-Mana college for Health Sciences -MACHS
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.
Describe the morphology of cooci and its effect on the body .
Describe Diagnostic test for streptococci infection :-
Microscopy – general blood test – gram sating - blood culture – esr – aso titer – crp.
3. Describe the acute inflammation and it courses .
4. Describe the physical changes acute inflammation and systemic manifestation .
5 . Explain the mechanism of necrosis
Objectives:
1–Describe the morphology and structure of virus A/H1N1?
2-Describe the clinical features A/H1N1?
3-Describe the pathology and immune response of A/H1N1?
4-Describe the transmission and prevention of A/H1N1?
5-list the diagnostic tests A/H1N1?
done by : asem shadid , college of medicine .
Objective : Describe the female reproductive system cycle
What test is required for diagnosis of pregnancy
Describe fertilization and implantation and early changes in the development of embryo
What is the importance of nutrition and drugs during pregnancy
Describe the importance of the listed test in the pregnancy
What is the normal schedule of visit during the pregnancy
done by : asem shadid , college of medicine .
Objective :
describe the morphology and structure of Neisseria meningitidis
describe the transmission and clinical features of meningitides
describe the process of development of meningitides
what is the diagnostic test required for Neisseria meningitidis
list the other causes of meningitis and its cfc finding
done by : asem shadid , college of medicine .
Describe the normal anatomy of the breast in female ?
Describe the breast cancer and its different type ,stages and grading ?
List the tumor marker of breast cancer ?
Clinical significance of progesterone and estrogen in breast cancer ?
How the breast cancer spread in different sites ?
Define the paraneoplastic syndrome ?
Objective :
Describe the morphology and structure of mycobacterial tuberculosis ?
What are the tests required for mycobacterial infection :
Mantoux skin test
Sputum examination using Ziehl-Neelsen staining
Sputum culture using lowenstein-jensen media
Discuss the clinical features and transmission of mycobacterial tuberculosis.
What are the pathological changes in mycobacterium tuberculosis?
How to control mycobacterial infection in the environment and vaccine available?
done by : asem shadid , college of medicine .
Objective :
1 - compare between malignant and benign tumors.
2 - describe the stages and grading of tumor .
3 - describe dysplasia to carcinoma .
4 – list the different type of malignant adenoma in colon .
5 – what is metastasis and how it spread and the common sites of the metastasis adenocarcinoma in the colon .
6 - describe the CEA .
by asem shadid
Similar to anemia and thalassemia genetic bases ,the molecular defects and pathophysiology of thalassemia , the diagnostic test that detect genetic mutation of thalassemia .
Similar to anemia and thalassemia genetic bases ,the molecular defects and pathophysiology of thalassemia , the diagnostic test that detect genetic mutation of thalassemia . (20)
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.
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
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
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.
Ethanol (CH3CH2OH), or beverage alcohol, is a two-carbon alcohol
that is rapidly distributed in the body and brain. Ethanol alters many
neurochemical systems and has rewarding and addictive properties. It
is the oldest recreational drug and likely contributes to more morbidity,
mortality, and public health costs than all illicit drugs combined. The
5th edition of the Diagnostic and Statistical Manual of Mental Disorders
(DSM-5) integrates alcohol abuse and alcohol dependence into a single
disorder called alcohol use disorder (AUD), with mild, moderate,
and severe subclassifications (American Psychiatric Association, 2013).
In the DSM-5, all types of substance abuse and dependence have been
combined into a single substance use disorder (SUD) on a continuum
from mild to severe. A diagnosis of AUD requires that at least two of
the 11 DSM-5 behaviors be present within a 12-month period (mild
AUD: 2–3 criteria; moderate AUD: 4–5 criteria; severe AUD: 6–11 criteria).
The four main behavioral effects of AUD are impaired control over
drinking, negative social consequences, risky use, and altered physiological
effects (tolerance, withdrawal). This chapter presents an overview
of the prevalence and harmful consequences of AUD in the U.S.,
the systemic nature of the disease, neurocircuitry and stages of AUD,
comorbidities, fetal alcohol spectrum disorders, genetic risk factors, and
pharmacotherapies for AUD.
- Video recording of this lecture in English language: https://youtu.be/lK81BzxMqdo
- Video recording of this lecture in Arabic language: https://youtu.be/Ve4P0COk9OI
- Link to download the book free: https://nephrotube.blogspot.com/p/nephrotube-nephrology-books.html
- Link to NephroTube website: www.NephroTube.com
- Link to NephroTube social media accounts: https://nephrotube.blogspot.com/p/join-nephrotube-on-social-media.html
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.
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
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
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.
Flu Vaccine Alert in Bangalore Karnatakaaddon Scans
As flu season approaches, health officials in Bangalore, Karnataka, are urging residents to get their flu vaccinations. The seasonal flu, while common, can lead to severe health complications, particularly for vulnerable populations such as young children, the elderly, and those with underlying health conditions.
Dr. Vidisha Kumari, a leading epidemiologist in Bangalore, emphasizes the importance of getting vaccinated. "The flu vaccine is our best defense against the influenza virus. It not only protects individuals but also helps prevent the spread of the virus in our communities," he says.
This year, the flu season is expected to coincide with a potential increase in other respiratory illnesses. The Karnataka Health Department has launched an awareness campaign highlighting the significance of flu vaccinations. They have set up multiple vaccination centers across Bangalore, making it convenient for residents to receive their shots.
To encourage widespread vaccination, the government is also collaborating with local schools, workplaces, and community centers to facilitate vaccination drives. Special attention is being given to ensuring that the vaccine is accessible to all, including marginalized communities who may have limited access to healthcare.
Residents are reminded that the flu vaccine is safe and effective. Common side effects are mild and may include soreness at the injection site, mild fever, or muscle aches. These side effects are generally short-lived and far less severe than the flu itself.
Healthcare providers are also stressing the importance of continuing COVID-19 precautions. Wearing masks, practicing good hand hygiene, and maintaining social distancing are still crucial, especially in crowded places.
Protect yourself and your loved ones by getting vaccinated. Together, we can help keep Bangalore healthy and safe this flu season. For more information on vaccination centers and schedules, residents can visit the Karnataka Health Department’s official website or follow their social media pages.
Stay informed, stay safe, and get your flu shot today!
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.
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...
anemia and thalassemia genetic bases ,the molecular defects and pathophysiology of thalassemia , the diagnostic test that detect genetic mutation of thalassemia .
2. Objectives
1• Define anemia and it's genetic bases.
2• Describe thalassemia and it's genetic bases.
3• What is the molecular defects and
pathophysiology of thalassemia
4• Describe the diagnostic test that detect genetic
mutation of thalassemia
5• Overview of pre-marital screening test.
4. Define anemia and it's genetic bases
• it is usually defined as a decrease in the amount of red blood
cells (RBCs) or hemoglobin in the blood.
• It can also be defined as a lowered ability of the blood to
carry oxygen.
• There are three main types of anemia, that due to blood loss,
that due to decreased red blood cell production, and that
due to increased red blood cell breakdown.
• Causes of decreased production include iron deficiency, a
lack of vitamin B12, thalassemia and a number of neoplasms
of the bone marrow.
• Causes of increased breakdown include a number of genetic
conditions such as sickle cell anemia, infections like malaria .
5. Anemia and Your Genes
• Some people are born with genetic abnormalities that can cause
certain types of anemia, including sickle cell anemia,
thalassemia, and Fanconi anemia.
• Many people think of anemia as something that happens
because of outside factors, like a poor diet .
• Among the types of anemia that can be inherited are:
1. Sickle-cell anemia. People with sickle-cell anemia have a gene
that causes the blood protein hemoglobin to form abnormally.
As a result, red blood cells are produced in a sickle shape.
2. Thalassemia. occurs when your body is unable to produce
enough hemoglobin, which functions to carry oxygen
throughout the body.
3. Fanconi anemia. This type of anemia stems from an inherited
blood disorder that prevents the bone marrow from producing
an adequate supply of new blood cells for the body.
7. Describe thalassemia and it's genetic bases.
• Each type of thalassemia is a result of the body’s inability to
make enough red blood cells and hemoglobin.
• Hemoglobin A, which is the normal type of hemoglobin, is
made up of two alpha globin and two beta globin protein
chains.
• Genes from each parent are needed to make each of these
protein chains.
• If there is a defect in either protein chain, alpha (in which the
defect is in the alpha globin protein) or beta (in which the
defect is in the beta globin protein) thalassemia can occur.
• Both alpha and beta thalassemia are further classified into
these subtypes:
• Thalassemia major
• Thalassemia minor
8. • If you inherit the defective hemoglobin gene from both parents,
the more severe form of this blood disorder, thalassemia major,
occurs.
• Major Thalassemia: is the homozygous state wherein both parents
are carriers of the mutated gene. The individual has two copies of
the thalassemia gene. Individuals with thalassemia have severe
anemia requiring lifelong blood transfusions and other medical
procedures for survival.
• Thalassemia minor occurs when you receive the defective gene
from only one parent. If you have this form of the disease, you do
not have symptoms but are a carrier of the blood disorder.
• • Minor Thalassemia: is the heterozygous state wherein one of the
parents is a carrier of the mutated gene. The individual has only
one copy of the thalassemia gene along with one normal beta-
globin chain gene. Individuals with thalassemia minor do not
require any treatment except nutritional supplements and lead a
fully normal life.
9. • Other forms of thalassemia include:
• Hb S/beta thalassemia. The affected person has thalassemia
minor and inherits one gene for sickle cell disease.
• E-beta thalassemia. The affected person has thalassemia
minor and a defective gene that produces a variant form of
hemoglobin called hemoglobin E.
• The thalassemias are classified according to which chain of
the hemoglobin molecule is affected. In α-thalassemias,
production of the α globin chain is affected, while in β-
thalassemia, production of the β globin chain is affected.
• Both α- and β-thalassemias are often inherited in an
autosomal recessive manner.
• For the autosomal recessive forms of the disease, both parents
must be carriers for a child to be affected.
• If both parents carry a hemoglobinopathy trait, the risk is 25%
for each pregnancy .
10. What is the molecular defects
and pathophysiology of
thalassaemia
11. Pathophysiology
• Normally, the majority of adult hemoglobin (HbA) is composed
of four protein chains, two α and two β globin chains
arranged into a heterotetramer.
• In thalassemia, patients have defects in either the α or β
globin chain, causing production of abnormal red blood cells
. note that : (In sickle-cell disease, the mutation is specific to β
globin).
• The thalassemias are classified according to which chain of
the hemoglobin molecule is affected.
• The β globin chains are encoded by a single gene on
chromosome 11.
• α globin chains are encoded by two closely linked genes on
chromosome 16.
12. Hemoglobin
• Hemoglobin consists of an iron-containing heme ring and four
globin chains: two alpha and two nonalpha.
• The composition of the four globin chains determines the
hemoglobin type.
• Fetal hemoglobin (HbF) has two alpha and two gamma
chains (alpha2 gamma2).
• Adult hemoglobin A (HbA) has two alpha and two beta
chains (alpha2 beta2), whereas hemoglobin A2 (HbA2) has
two alpha and two delta chains (alpha2 delta2).
• At birth, HbF accounts for approximately 80 percent of
hemoglobin and HbA accounts for 20 percent.
• The transition from gamma globin synthesis (HbF) to beta
globin synthesis (HbA) begins before birth. By approximately six
months of age, healthy infants will have transitioned to mostly
HbA, a small amount of HbA2, and negligible HbF .
13. ALPHA THALASSEMIA
• Alpha thalassemia is the result of deficient or absent synthesis of alpha globin
chains, leading to excess beta globin chains. therefore fewer alpha-globin
chains are produced, resulting in an excess of β chains in adults and excess γ
chains in newborns.
• Alpha globin chain production is controlled by two genes on each
chromosome 16 . The α-thalassemias involve the genes HBA1and HBA2 .
• Deficient production is usually caused by a deletion of one or more of these
genes
1. A single gene deletion results in alpha thalassemia silent carrier status, which
is asymptomatic .
2. The two-gene deletion causes alpha thalassemia trait (minor) with
microcytosis and usually no anemia.
3. The three-gene deletion results in significant production of hemoglobin H
(HbH), which has four beta chains (beta4).
4. The four-gene deletion results in significant production of hemoglobin Bart's
(Hb Bart's) .
14.
15. BETA THALASSEMIA
• Beta thalassemia is the result of deficient or absent synthesis of
beta globin chains, leading to excess alpha chains.
• Beta globin synthesis is controlled by one gene on each
chromosome 11. Beta thalassemias are due to mutations in
the HBB gene .
• Beta globin chain production can range from near normal to
completely absent, leading to varying degrees of excess
alpha globin to beta globin chain production.
• The one gene defect, beta thalassemia trait (minor), is
asymptomatic and results in microcytosis and mild anemia.
• Persons with beta thalassemia major are almost never
symptomatic at birth because of the presence of HbF, but
symptoms begin to develop by six months of age.
21. Definition of Premarital Screening:
• It is defined as conducting examination for soon-to-
be married in order to identify if there is any injury
with genetic blood diseases such as sickle-cell
anemia (SCA) and Thalassemia, and some
infectious diseases such as hepatitis B, C and HIV
"Aids".
• This is in order to provide medical consultation on
the odds of transmitting these diseases to the other
marriage partner or the children in the future, and
to give options and alternatives before soon-to-be
married with the aim of helping them plan for a
hea;thy,sound family.
22. Objectives of Premarital Screening:
• • The healthy marriage program is considered a national,
communal. Aware, and preventive program aims at :
•
• Limiting the spread of some genetic blood diseases: sickle-
cell anemia (SCA) and thalassemia, and some infectious
diseases: hepatitis B, C and AIDS/HIV.
•
• Reducing the financial burdens resulting from the treatment
of the injured in terms of the family and community.
• Reducing pressure over health institutions and blood banks.
• Avoiding the social and psychological problems for families
whose children suffer.
• Making those seeking such an check-up feel at ease.
• Disseminating awareness with regard to the concept of the
comprehensive, healthy marriage.