Cystic fibrosis is a genetic disease that causes thick, sticky mucus to build up in the lungs and digestive tract. It is caused by mutations in the CFTR gene that result in defective or too few chloride channels. This leads to dehydrated mucus and chronic lung infections. Symptoms include difficulty breathing, coughing, weight loss, and excessive salt in sweat. Treatment focuses on clearing mucus from the lungs and controlling infections through antibiotics and airway clearance techniques. While there is no cure, managing symptoms has increased life expectancy to over 30 years on average.
Cell Free Fetal DNA Non Inavasive Prenatal Diagnostic Methods and ApplicationsMayuri N Jagtap
Noninvasive prenatal testing (NIPT) has become possible to identify cell free fetal DNA (cffDNA) in maternal bloodstream. The effective implementation of noninvasive testing into a clinical practice such as fetal sex detection, RhD genotyping and fetal chromosomal aneuploidy detection have been enabled by the technical advances in molecular analysis of fetal DNA (e.g., digital polymerase chain reaction (PCR) and massively parallel sequencing (MPS) in early years. cffDNA technology has significant superiority as difference compared to routine serum sample screening by means of it has high accuracy and sensitivity. Though, cffDNA positive results still need validation by the invasive testing. The main purpose of cell free fetal DNA is to become first priority of NIPT option only due to its high accuracy rate and its safety. The ultimate goal is to develop the reliable method which could eventually swap invasive prenatal testing procedures. In maternal circulation with relatively high concentration the analysis of cell-free fetal DNA in plasma is one of the innovative non-invasive prenatal testing options. Recently Commercial tests for cell-free fetal DNA in maternal blood have become available. This review briefly summarizes the technical aspects of the noninvasive prenatal testing along with analysis of cffDNA and application of it in clinical practice.
Cell Free Fetal DNA Non Inavasive Prenatal Diagnostic Methods and ApplicationsMayuri N Jagtap
Noninvasive prenatal testing (NIPT) has become possible to identify cell free fetal DNA (cffDNA) in maternal bloodstream. The effective implementation of noninvasive testing into a clinical practice such as fetal sex detection, RhD genotyping and fetal chromosomal aneuploidy detection have been enabled by the technical advances in molecular analysis of fetal DNA (e.g., digital polymerase chain reaction (PCR) and massively parallel sequencing (MPS) in early years. cffDNA technology has significant superiority as difference compared to routine serum sample screening by means of it has high accuracy and sensitivity. Though, cffDNA positive results still need validation by the invasive testing. The main purpose of cell free fetal DNA is to become first priority of NIPT option only due to its high accuracy rate and its safety. The ultimate goal is to develop the reliable method which could eventually swap invasive prenatal testing procedures. In maternal circulation with relatively high concentration the analysis of cell-free fetal DNA in plasma is one of the innovative non-invasive prenatal testing options. Recently Commercial tests for cell-free fetal DNA in maternal blood have become available. This review briefly summarizes the technical aspects of the noninvasive prenatal testing along with analysis of cffDNA and application of it in clinical practice.
This powerpoint gives a brief introduction to Cystic Fibrosis. I created it for research, educational, and promotional purposes. I hope that someone who watches it can learn something about cf that they didn't know before.
NOTE: You'll find it easier to maneuver through the powerpoint if you flip each slide individually, otherwise the slides are too fast. Use the two buttons closest to the center triangle to do so.
A short presentation in Genetics about Cystic Fibrosis. This presentation includes the CF pathogenesis, diagnosis, signs and symptoms, the life expectancy of a patient, and its management.
#scichallenge2017 #scienceincypriotschools Cystic Fibrosis and gene therapyKyriaki Andronikou
#scichallenge2017 #scienceincypriotschools A presentation entry from Cyprus for the 2017 European Science Challenge looking at the use of Gene Therapy for Cystic Fibrosis.
This presentation will surely help the general physicians and paediatricians to understand the symptoms of cystic fibrosis and will educate regarding various diagnostic modalities in cystic fibrosis
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micro teaching on communication m.sc nursing.pdfAnurag Sharma
Microteaching is a unique model of practice teaching. It is a viable instrument for the. desired change in the teaching behavior or the behavior potential which, in specified types of real. classroom situations, tends to facilitate the achievement of specified types of objectives.
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.
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
These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
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.
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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
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
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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
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
1. CYSTIC FIBROSIS
BY CAROLINE KARUNYA PONNARASI KANGARAJ
GROUP-IV
30-11-2010
2. INTRODUCTION
Cystic fibrosis (also known as CF or mucoviscidosis) is a
common disease which affects the entire body, causing
progressive disability and often early death.
The name cystic fibrosis refers to the characteristic scarring
(fibrosis) and cyst formation within the pancreas, first
recognized in the 1930s. Difficulty breathing is the most
serious symptom and results from frequent lung infections
that is treated with, though not cured by, antibiotics and
other medications.
3. WHAT IS CYSTIC FIBROSIS ?
Chronic
progressive
life limiting
Autosomal recessive genetic disease characterized
by :
chronic respiratory disease
pancreatic insufficiency
elevation of sweat electrolytes and
male infertility
4. GENETICS IN CYSTIC FIBROSIS
Cystic fibrosis is a heterogeneous recessive
genetic disorder with features that reflect
mutations in the cystic fibrosis transmembrane
conductance regulator (CFTR) gene .
CYSTIC FIBROSIS
CLASSIC NON-
CLASSIC
5.
6. DISEASE ETIOLOGY AND INCIDENCE
• CF has been in all races ,it is predominately o
diseases of northern europeans.
• The live birth incidence of CF ranges from :
o 1in 313 among the Hutterites of southern albeta
o Canada,to 1 in 90,000 among the asian
population of hawaii.
o Among all U.S whites,the diseases is 1 in 3200
8. THE CFTR GENE
Locus: 7q31.2 - The CFTR gene is found
in region q31.2 on the long (q) arm of
human chromosome 7.
Gene Structure: The normal allelic variant
for this gene is about 250,000 bp long and
contains 27 exons.
Gene Function: It is predicted that it codes
a Integral membrane protein of about
170kb know as CF TRANSMEMBRANE
CONDUCTANCE REGULATOR(CFTR)
10. THE CFTR PROTEIN
CFTR transports chloride ions (Cl-) ions across
the membranes of cells in the
lungs, liver, pancreas, digestive
tract, reproductive tract, and skin.
The CFTR chloride channels has FIVE
DOMAINS:
1. Two membrane –spanning domains : Each with
six transmembrane sequences;
2. Two nucleotide(ATP)-binding domains;
3. Regulatory domain with multiple
phosphorylation site.
13. MUTATION IN THE CFTR POLYPEPTIDE
• The first mutation identified ,a deletion of
a phenylalanine residue at position 508 in
the first ATP- binding fold,is the most
common defect, accounting for about 70%
of all CF alleles in white populations.
• In these population ,only seven other
mutation are more frequent than 0.5%,and
the remainder are therfore are rare.
16. CLASSES OF CF GENE
Class 1 mutations : Defective protein production with
premature termination of CFTR protein production.
Class 1 mutations produce few or no functioning
CFTR chloride channels
Class 2 mutations : Defective trafficking of CFTR so
that it does not reach the apical surface membrane
where it is intended to function
Class 3 mutations : Defective regulation (opening
and closing) of the CFTR chloride channel which
allows movement of chloride in and out of the cell
even though the CFTR protein is able to reach the
apical cell surface
17. Class 4 mutations: CFTR reaches the
apical surface but conduction (passage of
chloride ions through the channel) is
defective
Class 5 mutations : Associated with
reduced synthesis of functional CFTR
Class 6 mutations :proteins are
synthesized normally but are unstable at
the cell surface.
18.
19. PATHOPHYSIOLOGY OF CYSTIC FIBROSIS
• CF is due to abnormal fluid and electrolyte
transport across epithelial apical
membranes.
• This abnormality leads to disease in the
Lung , Pancreas, Intestine, Hepatobiliary
tree and male genital tract.
20. MAJOR PHENOTYPIC FEATURES
Progressive pulomonary disease
Exocrine pancreatic insufficency
Obstructive azoospermia
Elevated sweat chloride concentration
Growth failure
Meconium ileus.
21. SYMPTOMS
Thick mucus in secretion in the lungs
Repeated Infection ( the accumulation of sticky , thick
mucus in the lungs creates a favorable environment for
infectious microorganism to inhabit and flourish)
Stools , pale or clay coloured , foul smelling or stools
that float
Bronchitis , Pneumonia ,nasal polyps
Excessive salt in sweat
Enlarged finger tips-clubbing
22.
23.
24.
25. DIAGONOSIS
Cystic fibrosis may be diagnosed by many
different categories of testing including :
• newborn screening,
• sweat testing, or genetic testing
26. TREATMENT
• The only way to cure CF would be to use gene therapy to
replace the defective gene or to give the patient the normal
form of the protein before symptoms cause permanent
damage.
• The major goal in treating CF is to clear the abnormal and
excess secretions and control infections in the lungs, and to
prevent obstruction in the intestines.
• For patients with advanced stages of the disease, a lung
transplant operation may be necessary.
• Although treating the symptoms does not cure the
disease, it can greatly improve the quality of life for most
patients and has, over the years, increased the average life
span of CF patients to 30 years.
27. CONCLUSION
“Woe is the child who tastes salty from a kiss on
the brow, for he is cursed , and soon must die”
After coming to know about these diseases and the worst
thinking's of the mankind about a child ,I think you
would have got the motivation to live long and stay strong
for anything and you will realize that your life is not that
tough compare to those who are suffering from an
incurable diseases.Till now doctors all around through
world are still finding medicine and ways to cure this
diseases .I wish that someone here in the classroom will
be the first one who finds the cure for Cystic fibrosis in the
future and help kids like who are undergoing these
unwanted sayings.