07-08-2013
Faculty of medicine of Syrian Private University.
Please LIKE my page! http://facebook.com/NawrasAlHalabi
متلازمة كلاينفلتر وتقانات أطفال الأنابيب
.كلية الطب البشري في الجامعة السورية الخاصة
Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is typically associated with physical growth delays, characteristic facial features and mild to moderate intellectual disability. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an 8- or 9-year-old child, but this can vary widely.
Contents :
General features of genes and chromosomes
General features of genetics
General features of chromosomes
Barr body
Genes
Aneuploidy
Chromosomes
Cytogenetics and DNA recombinant technology
General features of cytogenetic studies
Polymerase chain reaction
Restriction fragment length polymorphism
DNA fingerprinting
Fluorescence and luminence
Karyotyping
Blotting
Hybridoma technology
Genetic studies
Chromosomal studies
Transgenic animals
Gene incorporation
Recombinant technology
Gene therapy
Mode of inheritance of diseases
Inheritance of diseases
Features of inheritance
Mitochondrial inheritance
Genetic disorders
General features of genetic disorders
Rearrangement of transcription factors
Down’s syndrome
Trisomy 13
Trisomy 18
Trisomy 22
Turner syndrome
Klinefelter syndrome
Noonan syndrome
Disorders of DNA repair mechanism
For more details, visit www.medpgnotes.com
You can send your queries to medpgnotes@gmail.com
07-08-2013
Faculty of medicine of Syrian Private University.
Please LIKE my page! http://facebook.com/NawrasAlHalabi
متلازمة كلاينفلتر وتقانات أطفال الأنابيب
.كلية الطب البشري في الجامعة السورية الخاصة
Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is typically associated with physical growth delays, characteristic facial features and mild to moderate intellectual disability. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an 8- or 9-year-old child, but this can vary widely.
Contents :
General features of genes and chromosomes
General features of genetics
General features of chromosomes
Barr body
Genes
Aneuploidy
Chromosomes
Cytogenetics and DNA recombinant technology
General features of cytogenetic studies
Polymerase chain reaction
Restriction fragment length polymorphism
DNA fingerprinting
Fluorescence and luminence
Karyotyping
Blotting
Hybridoma technology
Genetic studies
Chromosomal studies
Transgenic animals
Gene incorporation
Recombinant technology
Gene therapy
Mode of inheritance of diseases
Inheritance of diseases
Features of inheritance
Mitochondrial inheritance
Genetic disorders
General features of genetic disorders
Rearrangement of transcription factors
Down’s syndrome
Trisomy 13
Trisomy 18
Trisomy 22
Turner syndrome
Klinefelter syndrome
Noonan syndrome
Disorders of DNA repair mechanism
For more details, visit www.medpgnotes.com
You can send your queries to medpgnotes@gmail.com
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also have primary hypogonadism (decreased testosterone
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
details of klinfelter syndrome, noonan syndrome and diseases of pitutary and diseases of hypogonadism and cause of hypogonadism and primary hypogonadism and secondary hypogonadism
hypogonadism and diseases of hypogonadism and primary diseases of hypogonadism and secondary diseases of hypogonadism and diseases of gonads klinfelter syndrome and noonan syndrome and kallman syndrome
Facts about Infertility and Ieproductive TechnologyiCliniq
Infertility is a condition where the couple is unable to conceive after 12 months of regular sexual relationship without birth control.
There are some types in infertility:
primary infertility ( never conceived couples)
Secondary infertility ( Conceived but failed soon after pregnancy and after possibilities are less)
Some more content from doctor's for your reference --> https://www.icliniq.com/articles/reproductive-fertility-health/making-a-baby-infertility-treatment
New articles were published at the end of the 2017 about "chicken-the-egg" question: which organic molecules were the first: nucleotides or amino acids. RNA world is still the predominant theory, but new studies on proteins could change that.
NGS is a new way to examine and explore genes. Sanger's method is still being used in science but has some difficulties. This presentation covers only two types of NGSs but they are good examples of better ways to study genes, genome. NGS are really important nowadays in diagnostics tumors and cancers.
Title: Sense of Smell
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 primary categories of smells and the concept of odor blindness.
Explain the structure and location of the olfactory membrane and mucosa, including the types and roles of cells involved in olfaction.
Describe the pathway and mechanisms of olfactory signal transmission from the olfactory receptors to the brain.
Illustrate the biochemical cascade triggered by odorant binding to olfactory receptors, including the role of G-proteins and second messengers in generating an action potential.
Identify different types of olfactory disorders such as anosmia, hyposmia, hyperosmia, and dysosmia, including their potential causes.
Key Topics:
Olfactory Genes:
3% of the human genome accounts for olfactory genes.
400 genes for odorant receptors.
Olfactory Membrane:
Located in the superior part of the nasal cavity.
Medially: Folds downward along the superior septum.
Laterally: Folds over the superior turbinate and upper surface of the middle turbinate.
Total surface area: 5-10 square centimeters.
Olfactory Mucosa:
Olfactory Cells: Bipolar nerve cells derived from the CNS (100 million), with 4-25 olfactory cilia per cell.
Sustentacular Cells: Produce mucus and maintain ionic and molecular environment.
Basal Cells: Replace worn-out olfactory cells with an average lifespan of 1-2 months.
Bowman’s Gland: Secretes mucus.
Stimulation of Olfactory Cells:
Odorant dissolves in mucus and attaches to receptors on olfactory cilia.
Involves a cascade effect through G-proteins and second messengers, leading to depolarization and action potential generation in the olfactory nerve.
Quality of a Good Odorant:
Small (3-20 Carbon atoms), volatile, water-soluble, and lipid-soluble.
Facilitated by odorant-binding proteins in mucus.
Membrane Potential and Action Potential:
Resting membrane potential: -55mV.
Action potential frequency in the olfactory nerve increases with odorant strength.
Adaptation Towards the Sense of Smell:
Rapid adaptation within the first second, with further slow adaptation.
Psychological adaptation greater than receptor adaptation, involving feedback inhibition from the central nervous system.
Primary Sensations of Smell:
Camphoraceous, Musky, Floral, Pepperminty, Ethereal, Pungent, Putrid.
Odor Detection Threshold:
Examples: Hydrogen sulfide (0.0005 ppm), Methyl-mercaptan (0.002 ppm).
Some toxic substances are odorless at lethal concentrations.
Characteristics of Smell:
Odor blindness for single substances due to lack of appropriate receptor protein.
Behavioral and emotional influences of smell.
Transmission of Olfactory Signals:
From olfactory cells to glomeruli in the olfactory bulb, involving lateral inhibition.
Primitive, less old, and new olfactory systems with different path
Recomendações da OMS sobre cuidados maternos e neonatais para uma experiência pós-natal positiva.
Em consonância com os ODS – Objetivos do Desenvolvimento Sustentável e a Estratégia Global para a Saúde das Mulheres, Crianças e Adolescentes, e aplicando uma abordagem baseada nos direitos humanos, os esforços de cuidados pós-natais devem expandir-se para além da cobertura e da simples sobrevivência, de modo a incluir cuidados de qualidade.
Estas diretrizes visam melhorar a qualidade dos cuidados pós-natais essenciais e de rotina prestados às mulheres e aos recém-nascidos, com o objetivo final de melhorar a saúde e o bem-estar materno e neonatal.
Uma “experiência pós-natal positiva” é um resultado importante para todas as mulheres que dão à luz e para os seus recém-nascidos, estabelecendo as bases para a melhoria da saúde e do bem-estar a curto e longo prazo. Uma experiência pós-natal positiva é definida como aquela em que as mulheres, pessoas que gestam, os recém-nascidos, os casais, os pais, os cuidadores e as famílias recebem informação consistente, garantia e apoio de profissionais de saúde motivados; e onde um sistema de saúde flexível e com recursos reconheça as necessidades das mulheres e dos bebês e respeite o seu contexto cultural.
Estas diretrizes consolidadas apresentam algumas recomendações novas e já bem fundamentadas sobre cuidados pós-natais de rotina para mulheres e neonatos que recebem cuidados no pós-parto em unidades de saúde ou na comunidade, independentemente dos recursos disponíveis.
É fornecido um conjunto abrangente de recomendações para cuidados durante o período puerperal, com ênfase nos cuidados essenciais que todas as mulheres e recém-nascidos devem receber, e com a devida atenção à qualidade dos cuidados; isto é, a entrega e a experiência do cuidado recebido. Estas diretrizes atualizam e ampliam as recomendações da OMS de 2014 sobre cuidados pós-natais da mãe e do recém-nascido e complementam as atuais diretrizes da OMS sobre a gestão de complicações pós-natais.
O estabelecimento da amamentação e o manejo das principais intercorrências é contemplada.
Recomendamos muito.
Vamos discutir essas recomendações no nosso curso de pós-graduação em Aleitamento no Instituto Ciclos.
Esta publicação só está disponível em inglês até o momento.
Prof. Marcus Renato de Carvalho
www.agostodourado.com
NVBDCP.pptx Nation vector borne disease control programSapna Thakur
NVBDCP was launched in 2003-2004 . Vector-Borne Disease: Disease that results from an infection transmitted to humans and other animals by blood-feeding arthropods, such as mosquitoes, ticks, and fleas. Examples of vector-borne diseases include Dengue fever, West Nile Virus, Lyme disease, and malaria.
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.
Lung Cancer: Artificial Intelligence, Synergetics, Complex System Analysis, S...Oleg Kshivets
RESULTS: Overall life span (LS) was 2252.1±1742.5 days and cumulative 5-year survival (5YS) reached 73.2%, 10 years – 64.8%, 20 years – 42.5%. 513 LCP lived more than 5 years (LS=3124.6±1525.6 days), 148 LCP – more than 10 years (LS=5054.4±1504.1 days).199 LCP died because of LC (LS=562.7±374.5 days). 5YS of LCP after bi/lobectomies was significantly superior in comparison with LCP after pneumonectomies (78.1% vs.63.7%, P=0.00001 by log-rank test). AT significantly improved 5YS (66.3% vs. 34.8%) (P=0.00000 by log-rank test) only for LCP with N1-2. Cox modeling displayed that 5YS of LCP significantly depended on: phase transition (PT) early-invasive LC in terms of synergetics, PT N0—N12, cell ratio factors (ratio between cancer cells- CC and blood cells subpopulations), G1-3, histology, glucose, AT, blood cell circuit, prothrombin index, heparin tolerance, recalcification time (P=0.000-0.038). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and PT early-invasive LC (rank=1), PT N0—N12 (rank=2), thrombocytes/CC (3), erythrocytes/CC (4), eosinophils/CC (5), healthy cells/CC (6), lymphocytes/CC (7), segmented neutrophils/CC (8), stick neutrophils/CC (9), monocytes/CC (10); leucocytes/CC (11). Correct prediction of 5YS was 100% by neural networks computing (area under ROC curve=1.0; error=0.0).
CONCLUSIONS: 5YS of LCP after radical procedures significantly depended on: 1) PT early-invasive cancer; 2) PT N0--N12; 3) cell ratio factors; 4) blood cell circuit; 5) biochemical factors; 6) hemostasis system; 7) AT; 8) LC characteristics; 9) LC cell dynamics; 10) surgery type: lobectomy/pneumonectomy; 11) anthropometric data. Optimal diagnosis and treatment strategies for LC are: 1) screening and early detection of LC; 2) availability of experienced thoracic surgeons because of complexity of radical procedures; 3) aggressive en block surgery and adequate lymph node dissection for completeness; 4) precise prediction; 5) adjuvant chemoimmunoradiotherapy for LCP with unfavorable prognosis.
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
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!
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.
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
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
3. 47, XXY and XXY syndrome
(XXY)
Because of the extra chromosome, individuals with
the condition are usually referred to as :
47,XXY
XXY
Males=
This chromosome constitution (karyotype)
exists in roughly between 1:500 to 1:1000 live
male births
4. Cause
The extra X chromosome is retained because of
a nondisjunction event during:
(XXY)
• Meiosis I (gametogenesis)
• Meiosis II in females
5. Meiosis I (gametogenesis)
• Nondisjunction occurs when homologous
chromosomes (X and Y sex chromosomes) fail to
separate, producing a sperm with an X and a Y
chromosome.
• Fertilizing a normal (X) egg produces an XXY
offspring.
• The XXY chromosome arrangement is one of the most
common genetic variations from the XY karyotype,
occurring in about 1 in 500 live male births.
(XXY)
7. Meiosis II in females
• Another mechanism for retaining the extra X
chromosome is through a nondisjunction event during
meiosis II in the female.
• Nondisjunction will occur when sister chromatids on the
sex chromosome, in this case an X and an X, fail to
separate.
• An XX egg is produced which, when fertilized with a Y
sperm, yields XXY offspring.
(XXY)
10. Babies:
• Weak muscles
• Slow motor development — taking longer than average
to sit up, crawl and walk
• Delay in speaking
• Quiet, docile personality
• Problems at birth, such as testicles that haven't descended
into the scrotum
(XXY)
Signs and symptoms
11. Boys and teenagers:
• Taller than average stature
• Longer legs, shorter torso
and broader hips compared
with other boys
• Absent, delayed or
incomplete puberty
• After puberty, less muscular
bodies and less facial and
body hair compared with
other teens
• Small, firm testicles
• Small penis
(XXY)
• Enlarged breast tissue
(gynecomastia)
• Weak bones
• Low energy levels
• Shyness
• Difficulty expressing
feelings or socializing
• Problems with reading,
writing, spelling or math
• Attention problems
Signs and symptoms
12. Men:
• Weak bones
• Decreased facial and
body hair
• Enlarged breast tissue
• Decreased sex drive or
sexual problems
Signs and symptoms
• Infertility
• Small testicles and penis
• Taller than average stature
17. Variations
• 48,XXYY
• 48,XXXY
• The incidence of 49,XXXXY is 1 in 85,0000
to 100,000 male births
(XXY)
occur in 1 in 18,000–50,000
male births.
18. Mosaic or mosaicism
Mosaic or mosaicism donates the presence of two or more
populations of cells with different genotypes in one
individual who has developed from a single fertilized egg
Males with Klinefelter syndrome may have a mosaic
47,XXY/46,XY constitutional karyotype and varying
degrees of spermatogenic failure.
Mosaicism 47,XXY/46,XX with clinical features
suggestive of Klinefelter syndrome is very rare. Thus far,
only about 10 cases have been described in literature.
(XXY)
19. It is interesting
• Analogous XXY syndromes are known to occur in cats -
specifically, the presence of calico(a spotted or parti-colored
coat that is predominantly white, with patches of two other
colors (often the two other colors are orange tabby and
black )) or tortoiseshell markings in male cats is an indicator
of the relevant abnormal karyotype.
• As such, male cats with calico or tortoiseshell markings are a
model organism for Klinefelter syndrome.
(XXY)
22. Diagnosing Klinefelter Syndrome
The greatest chances to make Klinefelter’s
diagnosing are in following times of life:
Before or shortly after birth
Early childhood
Adolescence
Adulthood.
For males in which Klinefelter syndrome is suspected, a
special blood test is recommended to confirm the
Klinefelter syndrome diagnosis.
(XXY)
23. Tests
Blood test:
Blood test called a karyotype and is the standard diagnostic method
Test looks at a person's chromosomes
Prenatal Testing:
many males have been diagnosed through amniocentesis or
chorionic villus sampling (CVS)
• In amniocentesis, a sample of the fluid surrounding the fetus is
withdrawn
• CVS is similar to amniocentesis. The procedure is done in the
first trimester (during the fist three month of pregnancy, it’s
important to establish a foundation of good health) and the fetal
cells needed for examination are taken from the placenta
(XXY)
26. • About 10% of Klinefelter cases are found by prenatal
diagnosis.
• Only a quarter of the affected males are recognized as
having Klinefelter syndrome at puberty (despite the
presence of small testes )
• 25% received their diagnosis in late adulthood (about
64% affected individuals are not recognized as such)
• Often the diagnosis is made accidentally as a result of
examinations and medical visits for reasons not linked to
the condition
(XXY)
Some facts
27. Treatment
Testosterone treatment should begin at puberty:
can normalize body proportions and promote development of
normal secondary sex characteristics
but does not treat infertility, gynecomastia and small testes
By 2010 over 100 successful pregnancies have been reported
using IVF (In vitro fertilization) technology with surgically
removed sperm material from men with Klinefelter syndrome
The results of a study on 87 Australian adults with the syndrome
shows:
• Who have had a diagnosis and appropriate treatment from a very
young age had a significant benefit with respect to those who
had been diagnosed in adulthood
(XXY)
28. IVF (In vitro fertilization)
Is a process by which an egg is fertilized by sperm outside the body: in
vitro
Involves:
• monitoring a woman's ovulatory process
• removing ovum or ova (egg or eggs) from the woman's ovaries
• letting sperm fertilize them in a fluid medium in a laboratory.
When a woman's natural cycle is monitored to collect a naturally
selected ovum (egg) for fertilization (it is known as natural cycle IVF)
(XXY) A "naked" egg
the fertilized egg (zygote) is then transferred
to the patient's uterus with the intention of
establishing a successful pregnancy
29. Gynecomastia
Photo of male with severe asymmetrical gynecomastia, followed by
a photo of the same male after a liposuction procedure.
31. Epidemiology
• This syndrome, evenly spread in all ethnic groups, has a prevalence of
1-2 subjects every 1000 males in the general population
• 3.1 % of infertile males have Klinefelter syndrome
• The prevalence of the syndrome has increased over the past decades
(according to a meta-analysis)
• However, this does not appear to be correlated with the increase of the
age of the mother at conception
The results of a study on 87 Australian adults with the syndrome
shows:
• Who have had a diagnosis and appropriate treatment from a very
young age had a significant benefit with respect to those who
had been diagnosed in adulthood
(XXY)
32. History of Klinefelter Syndrome
• It was first indentified in 1942. By the late
1950s, the cause of Klinefelter syndrome
was discovered.
In 1942, Dr. Harry Klinefelter and his
coworkers at the Massachusetts General
Hospital in Boston published a report about
9 men who had enlarged breasts, sparse
facial and body hair, small testes, and an
inability to produce sperm.
By the late 1950s, researchers discovered
that men with Klinefelter syndrome.
(XXY)
33. In the early 1970s
• Researchers around the world sought to identify males having the
extra chromosome by screening large numbers of newborn
babies.
• One of the largest of these studies checked the chromosomes of
more than 40,000 infants.
The XXY chromosome arrangement appears to be one of the
most common genetic abnormalities known (1 in 500 to 1 in
1,000 male births)
• Not a lot actually have Klinefelter syndrome symptoms. Many
men live out their lives without ever suspecting that they have an
additional chromosome.
(XXY)