07-08-2013
Faculty of medicine of Syrian Private University.
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متلازمة كلاينفلتر وتقانات أطفال الأنابيب
.كلية الطب البشري في الجامعة السورية الخاصة
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
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.
Dr Ahmad Taha - Fetal Medicine Unit, Orient Hospital. Presented in Syrian Society of Obstetricians and Gynaecologists Annual Meeting 2015 - Dama Rose Hotel.
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
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.
Dr Ahmad Taha - Fetal Medicine Unit, Orient Hospital. Presented in Syrian Society of Obstetricians and Gynaecologists Annual Meeting 2015 - Dama Rose Hotel.
Communication with Children and Young Patients in MedicinesNawras AlHalabi
مهارات التواصل مع الأطفال والمرضى الصغار في الطّبّ
كلية الطب البشري في الجامعة السورية الخاصة
Please LIKE my page! http://facebook.com/NawrasAlHalabi
2014
Faculty of medicine of Syrian Private University.
Prenatal Assessment of Gestational Age - Case Presentation Nawras AlHalabi
Prenatal Assessment of Gestational Age - Case Presentation
تقدير عمل الحمل، حالة سريرية.
Faculty of Medicine of Syrian Private University
كليّة الطّبّ البشريّ في الجامعة السّوريّة الخاصّة
20-12-2015
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
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.
One of the most developed cities of India, the city of Chennai is the capital of Tamilnadu and many people from different parts of India come here to earn their bread and butter. Being a metropolitan, the city is filled with towering building and beaches but the sad part as with almost every Indian city
The dimensions of healthcare quality refer to various attributes or aspects that define the standard of healthcare services. These dimensions are used to evaluate, measure, and improve the quality of care provided to patients. A comprehensive understanding of these dimensions ensures that healthcare systems can address various aspects of patient care effectively and holistically. Dimensions of Healthcare Quality and Performance of care include the following; Appropriateness, Availability, Competence, Continuity, Effectiveness, Efficiency, Efficacy, Prevention, Respect and Care, Safety as well as Timeliness.
ICH Guidelines for Pharmacovigilance.pdfNEHA GUPTA
The "ICH Guidelines for Pharmacovigilance" PDF provides a comprehensive overview of the International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use (ICH) guidelines related to pharmacovigilance. These guidelines aim to ensure that drugs are safe and effective for patients by monitoring and assessing adverse effects, ensuring proper reporting systems, and improving risk management practices. The document is essential for professionals in the pharmaceutical industry, regulatory authorities, and healthcare providers, offering detailed procedures and standards for pharmacovigilance activities to enhance drug safety and protect public health.
CHAPTER 1 SEMESTER V PREVENTIVE-PEDIATRICS.pdfSachin Sharma
This content provides an overview of preventive pediatrics. It defines preventive pediatrics as preventing disease and promoting children's physical, mental, and social well-being to achieve positive health. It discusses antenatal, postnatal, and social preventive pediatrics. It also covers various child health programs like immunization, breastfeeding, ICDS, and the roles of organizations like WHO, UNICEF, and nurses in preventive pediatrics.
Leading the Way in Nephrology: Dr. David Greene's Work with Stem Cells for Ki...Dr. David Greene Arizona
As we watch Dr. Greene's continued efforts and research in Arizona, it's clear that stem cell therapy holds a promising key to unlocking new doors in the treatment of kidney disease. With each study and trial, we step closer to a world where kidney disease is no longer a life sentence but a treatable condition, thanks to pioneers like Dr. David Greene.
How many patients does case series should have In comparison to case reports.pdfpubrica101
Pubrica’s team of researchers and writers create scientific and medical research articles, which may be important resources for authors and practitioners. Pubrica medical writers assist you in creating and revising the introduction by alerting the reader to gaps in the chosen study subject. Our professionals understand the order in which the hypothesis topic is followed by the broad subject, the issue, and the backdrop.
https://pubrica.com/academy/case-study-or-series/how-many-patients-does-case-series-should-have-in-comparison-to-case-reports/
Defecation
Normal defecation begins with movement in the left colon, moving stool toward the anus. When stool reaches the rectum, the distention causes relaxation of the internal sphincter and an awareness of the need to defecate. At the time of defecation, the external sphincter relaxes, and abdominal muscles contract, increasing intrarectal pressure and forcing the stool out
The Valsalva maneuver exerts pressure to expel faeces through a voluntary contraction of the abdominal muscles while maintaining forced expiration against a closed airway. Patients with cardiovascular disease, glaucoma, increased intracranial pressure, or a new surgical wound are at greater risk for cardiac dysrhythmias and elevated blood pressure with the Valsalva maneuver and need to avoid straining to pass the stool.
Normal defecation is painless, resulting in passage of soft, formed stool
CONSTIPATION
Constipation is a symptom, not a disease. Improper diet, reduced fluid intake, lack of exercise, and certain medications can cause constipation. For example, patients receiving opiates for pain after surgery often require a stool softener or laxative to prevent constipation. The signs of constipation include infrequent bowel movements (less than every 3 days), difficulty passing stools, excessive straining, inability to defecate at will, and hard feaces
IMPACTION
Fecal impaction results from unrelieved constipation. It is a collection of hardened feces wedged in the rectum that a person cannot expel. In cases of severe impaction the mass extends up into the sigmoid colon.
DIARRHEA
Diarrhea is an increase in the number of stools and the passage of liquid, unformed feces. It is associated with disorders affecting digestion, absorption, and secretion in the GI tract. Intestinal contents pass through the small and large intestine too quickly to allow for the usual absorption of fluid and nutrients. Irritation within the colon results in increased mucus secretion. As a result, feces become watery, and the patient is unable to control the urge to defecate. Normally an anal bag is safe and effective in long-term treatment of patients with fecal incontinence at home, in hospice, or in the hospital. Fecal incontinence is expensive and a potentially dangerous condition in terms of contamination and risk of skin ulceration
HEMORRHOIDS
Hemorrhoids are dilated, engorged veins in the lining of the rectum. They are either external or internal.
FLATULENCE
As gas accumulates in the lumen of the intestines, the bowel wall stretches and distends (flatulence). It is a common cause of abdominal fullness, pain, and cramping. Normally intestinal gas escapes through the mouth (belching) or the anus (passing of flatus)
FECAL INCONTINENCE
Fecal incontinence is the inability to control passage of feces and gas from the anus. Incontinence harms a patient’s body image
PREPARATION AND GIVING OF LAXATIVESACCORDING TO POTTER AND PERRY,
An enema is the instillation of a solution into the rectum and sig
2. Syndrome definition
• In medicine and psychology, a syndrome is the
association of several clinically recognizable features,
signs (observed by someone other than the patient),
symptoms (reported by the patient), phenomena or
characteristics that often occur together, so that the
presence of one or more features alerts the healthcare
provider to the possible presence of the others.
3. What is Klinefelter’s syndrome?
• A genetic disorder in which there is at least one extra X
chromosome to a standard human male karyotype.
• Frequency: roughly between 1:500 to 1:1000 live male births
• 47,XXY is the most common sex chromosome aneuploidy in
males and the second most common condition caused by the
presence of extra chromosomes.
Other mammals also have the XXY syndrome, including mice.
4. History
• The syndrome was named after Harry F. Klinefelter.
• In 1942, worked with Fuller Albright at Massachusetts
General Hospital in Boston, Massachusetts and first
described it in the same year.
• Firstly described in 9 men: Infertility, gynecomastia,
hypogonadism, elevated FSH, atrophic testis.
• By the late 1950’s, researches discovered that these
men had an extra sex chromosome thus having the
pattern XXY
• Pervious name: Seminiferous tubule dysgenesis was
no longer used.
5. Etiology
• Meiotic nondisjunction of chromosome pairs during the
first or second division of gametogenesis
• Mitotic nondisjunction on the developing zygote
• It’s a random event during the formation of
reproductive cells
7. Variations
• Males with Klinefelter syndrome may have a mosaic
47,XXY/46,XY.
• 48,XXYY and 48,XXXY occur in 1 in 18,000–50,000 male
births.
• 49,XXXXY is 1 in 85,000 to 100,000 male births.
(Additional chromosomal material can contribute to cardiac,
neurological, orthopedic and other anomalies.)
• only about 10 cases have been described in literature of
mosaicism 47,XXY/46,XX with clinical features suggestive
of Klinefelter syndrome
8. Diagnosis
• About 10% of Klinefelter cases are found by prenatal
diagnosis.
• About 25% received their diagnosis in late adulthood.
• Often the diagnosis is made accidentally as a result of
examinations and medical visits for reasons not linked to the
condition.
• The standard diagnostic method is the analysis of the
chromosomes' karyotype on lymphocytes.
• To confirm mosaicism, it is also possible to analyze the
karyotype using dermal fibroblasts or testicular tissue.
9. 1% 10%
18%
20%21%
18%
12%
Percentages of Klinefelter's diagnosis divided by
age groups (most diagnoses occurring in
adulthood)
0-9 years
10-19 years
20-29 years
30-39 years
40-49 years
50-59 years
60-69 years
10. Signs and symptoms
• There are many variances within the XXY population,
just as within the 46,XY population. It is possible to
characterize XXY males with body types and physical
characteristics.
• The only reliable method of identification is karyotype
testing.
11. Lifestyle with KS patients
As a Baby, Child, and Teen:
• May sit up, crawl, and walk later than other
infants.
• Weaker muscles
• Reduced strength
• They tend to be taller than average as they grow
up
• They may have less muscle control and
coordination.
• Entering puberty, these males don’t make as
much testosterone.
12. Lifestyle with KS patients
Mental:
• Speech/language deficits, learning
disabilities/academic issues and/or behavioral issues.
• Tend to be quiet and undemanding.
• Delays in language acquisition and development:
Children with Klinefelter syndrome have the greatest
difficulty with expressive language, which is the ability
to put thoughts, ideas, and emotions into words.
• They can face problems during adolescence:
emotional and behavioural, and difficulties at school.
• Most of them can achieve full independence from
their families in adulthood witch can lead a normal,
healthy life.
13. Signs and symptoms
Adulthood:
• Tall body stature and increased lenght of extremities and
Narrow sholders
• Decreased facial and body hair (Produce much less testosterone)
• Increased FSH, LH and normal/decreased testosterone levels
• Gynecomastia (increase in breast tissue)
• Increase of fatty tissue especially in abdomen and pelvis
• Atrophic testicular volume: 2-3 ml
• Decreased IQ levels
• Osteoporosis
• Increased risk of breast cancer, autoimmune disorders,
hypothyroidism
14. A person with typical untreated
(surgery/hormones) Klinefelter
46,XY/47,XXY mosaic
15.
16. Treatment
The genetic variation is irreversible, we treat the sings and
symptoms with:
• Cosmetic surgery gynecomastia (increase in breast tissue).
• Males with Klinefelter’s Syndrome can be given testosterone
therapy, If given around the age of puberty, it can help a boy
have normal body development.
• Planned and timed psychosocial support should be provided
for young men with Klinefelter syndrome to ameliorate
current poor psychosocial outcomes.
• IVF technologies to help father children.
17. Spermatogenesis
• Mosaic KS (46,XY/47,XXY) usually severe
oligozoospermic. Azoospermia can be present in some
mosaic KS patients.
• Men with non-mosaic KS usually azoospermic
18. KS Patients Fertility
• Micro TESE is a successful retrieval technique for patients
with KS
• The recovery rate can be change with age, the average rate is
%50-55
• After 35 years of age sperm recovery dramatically decrease
• The pregnancy rate was similar (45%) to karyotypically
normal NOA patients
• All babies have normal chromosome constraction
• PGD should be advise and discuss with the couples before
the ICSI treatment
29. People living with klinefelter
Caroline Cossey (XXXY)
• Cossey was raised as a boy,
but changed lifestyle to live
as a girl.
• She became a famous
model.
• She underwent sex-
reassignment surgery.
• Cossey was a James Bond
girl in the movie “For Your
Eyes Only.”
30. People living with klinefelter
Lili Elbe
• Elbe allegedly had Klinefelter’s.
• She was one of the first identifiable
recipients of male to female sex
reassignment surgery.
• Elbe was a fashion model.
• She was transsexual and underwent
experimental surgeries, her first
surgery was orchiectomy (removal
of testicles).
• Elbe was written about in David
Ebershoff’s best seller, The Danish
Girl.
31. XXY Movie (2007)
• XXY is a 2007 Argentine-Spanish-
French drama film written and
directed by Lucía Puenzo. Starring
Ricardo Darín, Valeria Bertuccelli,
Inés Efron, and Martín Piroyansky,
the film tells the story of a 15-year-
old intersex person, the way her
family copes with her condition and
the ultimate decision that she must
eventually make as she finds her
gender identity.