Edwards syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of an extra 18th chromosome. It results in physical abnormalities and intellectual disabilities. Individuals with Edwards syndrome often have heart defects, respiratory issues, and feeding difficulties. Prognosis is generally poor, with 50% surviving the first week and only 5-10% living beyond one year. Treatment focuses on management of symptoms and organ dysfunction. The condition is not inherited but rather caused by a random chromosomal error and cannot be passed to future generations.
Congenital Adr Hyperplasia (CAH) can appear at any age from birth to puberty where it can lead to ambiguous genitalia. It is due to absolute or relative deficiency of 17 Hydroxylase or 21 Hydroxylase enzyme.
Autosomal recessive inheritance refers to the pattern of inheritance of a condition directly or indirectly due to a recessive faulty gene copy located on an autosome Conditions that follow a pattern of autosomal recessive inheritance usually affect men and women equally and include cystic fibrosis, thalassaemia, Tay-Sachs disease and haemochromatosis. These autosomal recessive conditions are more common in individuals of certain ethnic or cultural backgrounds Where both parents are unaffected carriers of the autosomal recessive faulty gene for a particular genetic condition, there is 1 chance in 4 (25% chance) in every pregnancy that their child will inherit the faulty gene copy from both parents and be affected by or predisposed to develop the condition When only one parent is an unaffected carrier of the autosomal recessive faulty gene, there is no chance that their child will be affected by or predisposed to develop the condition Where both parents affected by the condition, they will both have two copies of the autosomal recessive faulty genes. All of their children will also be affected by or predisposed to develop the condition Where one parent is an unaffected carriers of the autosomal recessive faulty gene for a particular genetic condition, and the other parent is affected by the condition, 1 chance in 2 (50% chance) in every pregnancy that they will have a child who inherits both copies of the faulty gene. In this case, the child will be affected or predisposed to develop the condition
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
Turner syndrome is a chromosomal condition
that alters development in females. Women with this condition tend to be
shorter than average and are usually unable to conceive a child (infertile)
because of an absence of ovarian function. Other features of this condition
that can vary among women who have Turner syndrome include: extra skin on the
neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet,
skeletal abnormalities, heart defects and kidney problems.
This condition occurs in about 1 in 2,500
female births worldwide, but is much more common among pregnancies that do not
survive to term (miscarriages and stillbirths).
Turner syndrome is a chromosomal condition
related to the X chromosome.
[ghr.nlm.nih.gov]
Researchers have not yet determined which
genes on the X chromosome are responsible for most signs and symptoms of Turner
syndrome. They have, however, identified one gene called SHOX that is important
for bone development and growth. Missing one copy of this gene likely causes
short stature and skeletal abnormalities in women with Turner syndrome.
Congenital Adr Hyperplasia (CAH) can appear at any age from birth to puberty where it can lead to ambiguous genitalia. It is due to absolute or relative deficiency of 17 Hydroxylase or 21 Hydroxylase enzyme.
Autosomal recessive inheritance refers to the pattern of inheritance of a condition directly or indirectly due to a recessive faulty gene copy located on an autosome Conditions that follow a pattern of autosomal recessive inheritance usually affect men and women equally and include cystic fibrosis, thalassaemia, Tay-Sachs disease and haemochromatosis. These autosomal recessive conditions are more common in individuals of certain ethnic or cultural backgrounds Where both parents are unaffected carriers of the autosomal recessive faulty gene for a particular genetic condition, there is 1 chance in 4 (25% chance) in every pregnancy that their child will inherit the faulty gene copy from both parents and be affected by or predisposed to develop the condition When only one parent is an unaffected carrier of the autosomal recessive faulty gene, there is no chance that their child will be affected by or predisposed to develop the condition Where both parents affected by the condition, they will both have two copies of the autosomal recessive faulty genes. All of their children will also be affected by or predisposed to develop the condition Where one parent is an unaffected carriers of the autosomal recessive faulty gene for a particular genetic condition, and the other parent is affected by the condition, 1 chance in 2 (50% chance) in every pregnancy that they will have a child who inherits both copies of the faulty gene. In this case, the child will be affected or predisposed to develop the condition
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
Turner syndrome is a chromosomal condition
that alters development in females. Women with this condition tend to be
shorter than average and are usually unable to conceive a child (infertile)
because of an absence of ovarian function. Other features of this condition
that can vary among women who have Turner syndrome include: extra skin on the
neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet,
skeletal abnormalities, heart defects and kidney problems.
This condition occurs in about 1 in 2,500
female births worldwide, but is much more common among pregnancies that do not
survive to term (miscarriages and stillbirths).
Turner syndrome is a chromosomal condition
related to the X chromosome.
[ghr.nlm.nih.gov]
Researchers have not yet determined which
genes on the X chromosome are responsible for most signs and symptoms of Turner
syndrome. They have, however, identified one gene called SHOX that is important
for bone development and growth. Missing one copy of this gene likely causes
short stature and skeletal abnormalities in women with Turner syndrome.
Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p− (said minus) syndrome or Lejeune’s syndrome, is a rare genetic disorder due to a missing part (deletion) of chromosome 5.[1] Its name is a French term (cat-cry or call of the cat) referring to the characteristic cat-like cry of affected children.[2] It was first described by Jérôme Lejeune in 1963.
Presenting on the chromosomal aberration both in structure and number. Insight view in some disorders caused by chromosomal aberration including down syndrome, Patau syndrome, Edward syndrome and XY sex chromosome.
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.
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
263778731218 Abortion Clinic /Pills In Harare ,sisternakatoto
263778731218 Abortion Clinic /Pills In Harare ,ABORTION WOMEN’S CLINIC +27730423979 IN women clinic we believe that every woman should be able to make choices in her pregnancy. Our job is to provide compassionate care, safety,affordable and confidential services. That’s why we have won the trust from all generations of women all over the world. we use non surgical method(Abortion pills) to terminate…Dr.LISA +27730423979women Clinic is committed to providing the highest quality of obstetrical and gynecological care to women of all ages. Our dedicated staff aim to treat each patient and her health concerns with compassion and respect.Our dedicated group ABORTION WOMEN’S CLINIC +27730423979 IN women clinic we believe that every woman should be able to make choices in her pregnancy. Our job is to provide compassionate care, safety,affordable and confidential services. That’s why we have won the trust from all generations of women all over the world. we use non surgical method(Abortion pills) to terminate…Dr.LISA +27730423979women Clinic is committed to providing the highest quality of obstetrical and gynecological care to women of all ages. Our dedicated staff aim to treat each patient and her health concerns with compassion and respect.Our dedicated group of receptionists, nurses, and physicians have worked together as a teamof receptionists, nurses, and physicians have worked together as a team wwww.lisywomensclinic.co.za/
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.
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.
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.
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.
HOT NEW PRODUCT! BIG SALES FAST SHIPPING NOW FROM CHINA!! EU KU DB BK substit...GL Anaacs
Contact us if you are interested:
Email / Skype : kefaya1771@gmail.com
Threema: PXHY5PDH
New BATCH Ku !!! MUCH IN DEMAND FAST SALE EVERY BATCH HAPPY GOOD EFFECT BIG BATCH !
Contact me on Threema or skype to start big business!!
Hot-sale products:
NEW HOT EUTYLONE WHITE CRYSTAL!!
5cl-adba precursor (semi finished )
5cl-adba raw materials
ADBB precursor (semi finished )
ADBB raw materials
APVP powder
5fadb/4f-adb
Jwh018 / Jwh210
Eutylone crystal
Protonitazene (hydrochloride) CAS: 119276-01-6
Flubrotizolam CAS: 57801-95-3
Metonitazene CAS: 14680-51-4
Payment terms: Western Union,MoneyGram,Bitcoin or USDT.
Deliver Time: Usually 7-15days
Shipping method: FedEx, TNT, DHL,UPS etc.Our deliveries are 100% safe, fast, reliable and discreet.
Samples will be sent for your evaluation!If you are interested in, please contact me, let's talk details.
We specializes in exporting high quality Research chemical, medical intermediate, Pharmaceutical chemicals and so on. Products are exported to USA, Canada, France, Korea, Japan,Russia, Southeast Asia and other countries.
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
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.
Knee anatomy and clinical tests 2024.pdfvimalpl1234
This includes all relevant anatomy and clinical tests compiled from standard textbooks, Campbell,netter etc..It is comprehensive and best suited for orthopaedicians and orthopaedic residents.
2. Edwards syndrome
• The trisomy 18 syndrome, also
known as Edwards syndrome
• Common autosomal chromosomal
disorder
• Presence of an extra chromosome
18.
3. Edwards syndrome
• The syndrome pattern Comprises of
• major and minor anomalies,
• an increased risk of neonatal and
infant mortality,
• significant psychomotor and
cognitive disability.
4. Prevalence at birth
• higher in females compared to males
Epidemiology
• Trisomy 18 is the second most
common autosomal trisomy
syndrome after trisomy 21.
• 1 in 6,000 BIRTHS
5. Types
1. Regular or full (severe) –
• this is when every cell in the body
has three copies of chromosome 18
• 94% of cases
6. Types
• 2. Mosaic (less severe) –
• when some cells have the usual two
copies and some have three copies
of chromosome 18.
• The extent and severity of the
condition will depend on how many
cells have the extra copy of
chromosome 18
• 5%
7. Types
• 3. Partial –
• when there is an extra copy of only
a part of chromosome 18.
• The effects of this may be milder
8. ETIOLOGY
• The extra chromosome is present
because of non disjunction
• methylene tetrahydrofolate reductase
gene (MTHFR)
• Polymorphisms in mothers
• Advancing maternal age.
• A small positive association of
paternal age
9. PATHOGENESIS
• caused by a genetic abnormality
• before conception, when egg and sperm
cells are made.
• A healthy egg or sperm cell contains 23
individual chromosomes
• one to contribute to each of the 23 pairs
of chromosomes needed to form a
healthy, 46 chromosome cell.
10. PATHOGENESIS
sometimes egg and sperm cells
are left with 24 (or more)
chromosomes.
joining of these egg or sperm cells
a trisomy fetus to be formed.
12. Clinical description
• The growth delay starts in prenatal
period and continues after the birth
• Associated with feeding problems
that may require enteral nutrition.
25. ULTRASONOGRAPHY
• FIRST TRIMESTER SCREENING
• (nuchal translucency, pregnancyassociated plasma protein and free
beta-hCG)
• SECOND TRIMESTER
• quadruple screening
• (serum alpha-fetoprotein, total hCG,
unconjugated estriol and inhibin A)
27. ULTRASONOGRAPHY
• overlapping of hands fingers (second
and fifth on third and fourth
respectively),
• congenital heart defects,
• omphalocele, single umbilical artery
• The prevalence of growth retardation
and polyhydramnios increases with
gestational age
28. • Trisomy 18 pregnancies have a high
risk of fetal loss and stillbirth
29. Survival after birth and
neonatal management
• There is a high percentage of fetuses
dying during labor (38.5%), and the
preterm frequency (35%)
• Approximately 50% of babies with
trisomy 18 live longer than 1 week,
and 5-10% of children survive
beyond the first year
30. Causes of death
• Central apnea,
• cardiac failure due to cardiac
malformations
respiratory insufficiency due to
• hypoventilation,
• aspiration,
• upper airway obstruction
31. Growth and feeding
• Prenatal growth retardation 1700-1800
g
• Weight and height < the third centile in
the postnatal period
• feeding difficulties
• sucking and swallowing problems
• Gastroesophageal reflux
• pneumonia
• and aspiration
32. Developmental and behavior
• Developmental delay is always
present
• marked to profound degree of
psychomotor and intellectual
disability
• slow gaining of some skills
• Expressive language and
independently walk are not achieved
33. A young lady with full trisomy 18 in early childhood
and in adolescence; she lived to 19 years of age and
achieved
multiple milestones, including sitting and walking in a
walker.
34. How Is it Treated?
• There is no cure for Edwards
syndrome.
• Ninety to 95 % of all babies born
with it die within a year of birth.
• The few infants that do survive
need special treatment--ranging
from muscular therapy to nervous
system and skeletal corrections-for their various handicaps.
35. MANAGEMENT
• nutritional support,
• treatment of infections,
• transfusions for low blood cell
counts,
• medications such as diuretics
and/or digoxin to manage heart
failure