This document discusses preimplantation genetic diagnosis (PGD). It provides a brief history of PGD, indicating it began in the late 1980s to detect single gene disorders. By the mid-1990s, 100 live births had resulted from PGD, though few clinical cases were performed until the 2010s. PGD involves testing embryos for genetic mutations or abnormalities before implantation by removing and testing one or more cells. Common indications for PGD include avoiding inheritance of genetic disorders and ethical concerns about abortion. The document outlines techniques used in PGD like PCR and microarrays and provides examples of PGD for conditions like cystic fibrosis, fibrodysplasia ossificans progressiva, and beta-thalassemia.
This is an overview of PGD, based on a talk in Hangzhou, china in 2009-11-22.
It contains (not freat) sound that you can hear by clicking on the sound symbol on the lower right corner of the slide.
PGD combines advances in Molecular genetics and in assisted reproductive technology and is conducted before the embryo is placed inside the womb of the woman.Pre implantation genetic diagnosis was introduced to prevent the inheritance of sex linked diseases
This is an overview of PGD, based on a talk in Hangzhou, china in 2009-11-22.
It contains (not freat) sound that you can hear by clicking on the sound symbol on the lower right corner of the slide.
PGD combines advances in Molecular genetics and in assisted reproductive technology and is conducted before the embryo is placed inside the womb of the woman.Pre implantation genetic diagnosis was introduced to prevent the inheritance of sex linked diseases
Inheritance of some genetic diseases is linked to a sex chromosome. These disorders are also called sex-linked diseases. Approximately 800 various genes were identified on the X chromosome. The Y chromosome contains only 45 genes, which are predominantly connected with the determination of male sex and with spermatogenesis. For this reason, sex-linked diseases are primarily determined by the presence of abnormal variations of genes located on the X chromosome. Tt has become customary to refer to sex-linked diseases as X-linked diseases.
PGD is a state-of-the-art procedure used in conjunction with In Vitro Fertilization (IVF) in which the embryo is tested for certain conditions prior to being placed in the womb of the woman.
July 2015 is the 25th anniversary of the first births following preimplantation genetic diagnosis (PGD) world-wide. In this presentation, landmark developments are briefly reviewed and future developments are outlined which I believe will revolutionise the practice of IVF.
Inheritance of some genetic diseases is linked to a sex chromosome. These disorders are also called sex-linked diseases. Approximately 800 various genes were identified on the X chromosome. The Y chromosome contains only 45 genes, which are predominantly connected with the determination of male sex and with spermatogenesis. For this reason, sex-linked diseases are primarily determined by the presence of abnormal variations of genes located on the X chromosome. Tt has become customary to refer to sex-linked diseases as X-linked diseases.
PGD is a state-of-the-art procedure used in conjunction with In Vitro Fertilization (IVF) in which the embryo is tested for certain conditions prior to being placed in the womb of the woman.
July 2015 is the 25th anniversary of the first births following preimplantation genetic diagnosis (PGD) world-wide. In this presentation, landmark developments are briefly reviewed and future developments are outlined which I believe will revolutionise the practice of IVF.
Clinical Decision Making with Machine LearningSri Ambati
YouTube video:
https://youtu.be/AfEtluZIDnY
In this talk, Oleksii Barash Ph.D., IVF Laboratory Research Director at the Reproductive Science Center of the San Francisco Bay Area, discussed his team’s approach to applying machine learning for decision making during infertility treatment. Oleksii also gave a quick overview of how he uses Driverless AI to build models for predicting IVF outcomes.
Speaker's Bio:
Oleksii believes that evidence-based clinical decisions will greatly improve the efficiency and safety of the medicine. He received his Master degree in Clinical Embryology from University of Leeds (UK) and Ph.D. in Cell Biology. The ultimate goal of his findings is to essentially transform medical records into medical knowledge.
Dr Trevor Cole's presentation from Osteoporosis 2016: From family history to epigenetics of osteoporosis.
Find out more at: https://nos.org.uk/conference
Faisal Ahmed - Una aproximación sistemática a las diferencias del desarrollo ...Fundación Ramón Areces
os días 22 y 23 de octubre de 2015, organizamos en la Fundación Ramón Areces un Simposio Internacional sobre un área prioritaria para esta institución: la investigación de las enfermedades raras. En este caso, las doctoras Susan Webb y Eugenia Resmini, del Hospital de la Santa Creu i Sant Pau de Barcelona, coordinaron un encuentro científico sobre 'Enfermedades raras endocrinas, de la investigación al manejo clínico'.
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
- 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
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.
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
Factory Supply Best Quality Pmk Oil CAS 28578–16–7 PMK Powder in Stockrebeccabio
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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
2. History
In the late 1980s several pioneers and their groups began
preimplantation genetic diagnosis (PGD) with the detection
of single gene disorders
1990 :The first successful PGD cycle was reported
3. PGD in Clinic
By the mid-1990s there were still only 100 live born
children resulting from PGD
For most of the next decade, relatively few clinical cases
were performed, and the field generally was considered
‘‘boutique’’ in nature
By 2013 the mood has changed, PGD is no longer
boutique
4. What is PGD?
• The procedure which involves the removal of
one or more blastomeres to test for mutations
in a specific gene sequence or chromosomal
abnormalities before transferring
5. PGD Indications
• An alternative to conventional PND for couples with a
significant risk of transmitting a serious genetic disorder
to their offspring
• Avoiding abortion (enormous physical and psycological
burden)
• Presence of ethical concerns in aborting embryoes
affected with specific disorders ( for example: hearing
loss, skeletal disorders, …)
11. In the Past
Target specific optimization
• Time consuming
• Limited number of disorders
• Limited genetic tests carried out on blastomeres
• High failure rate
12. At Present
• Whole genome amplification of single cell
• Degenerate oligonucleotide primed PCR (DOP-PCR)
• GenomePlex Single Cell Whole Genome Amplification
• Multiple displacement amplification (MDA)
• A universal protocol for PGD of single gene disorders for a
wide range of genetic disorders
• Large amount of DNA from each blastomere (µg)
• No limitation in genetic investigations
