Turner syndrome is a genetic condition that affects females, caused by missing or abnormal X chromosome. It can cause short stature, lack of sexual development at puberty, infertility, and other issues. Klinefelter syndrome is a condition in males caused by an extra X chromosome, resulting in enlarged breasts and reduced facial/body hair. Fragile X syndrome is caused by a gene on the X chromosome shutting down, leading to intellectual disabilities, large ears, joint issues, and other traits.
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.
Down syndrome is by far the most common and best known chromosomal disorder in humans and the most common cause of intellectual disability. It is primarily caused by trisomy of chromosome 21 (see the image below), which gives rise to multiple systemic complications as part of the syndrome. However, not all defects occur in each patient; there is a wide range of phenotypic variation
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.
Down syndrome is by far the most common and best known chromosomal disorder in humans and the most common cause of intellectual disability. It is primarily caused by trisomy of chromosome 21 (see the image below), which gives rise to multiple systemic complications as part of the syndrome. However, not all defects occur in each patient; there is a wide range of phenotypic variation
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.
Turner syndrome (gonadal dysgenesis) is one of the most common chromosomal abnormalities occuring 1 in 2500 to 1 in 3000 live-born girls. It is an important cause of short stature in girls and primary amenorrhea in young women that is usually caused by loss of part or all of an X chromosome. This review briefly summarises the current knowledge about the syndrome and the management strategies.
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
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.
Turner syndrome (gonadal dysgenesis) is one of the most common chromosomal abnormalities occuring 1 in 2500 to 1 in 3000 live-born girls. It is an important cause of short stature in girls and primary amenorrhea in young women that is usually caused by loss of part or all of an X chromosome. This review briefly summarises the current knowledge about the syndrome and the management strategies.
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
OBSTETRICS & GYNAECOLOGICAL NURSING
GENETIC COUNSELLING DURING PREGNANC
INTRODUCTION-
COUNSELLING-Counselling is consultation, mutual interchange of opinions, deliberating together.A process in which the counsellor assist the counselee .
Provides concrete, accurate information about inherited disorders.
Provides information about prognosis and follow up.
Discuss ways in which disease can be prevented.
Earliest Galaxies in the JADES Origins Field: Luminosity Function and Cosmic ...Sérgio Sacani
We characterize the earliest galaxy population in the JADES Origins Field (JOF), the deepest
imaging field observed with JWST. We make use of the ancillary Hubble optical images (5 filters
spanning 0.4−0.9µm) and novel JWST images with 14 filters spanning 0.8−5µm, including 7 mediumband filters, and reaching total exposure times of up to 46 hours per filter. We combine all our data
at > 2.3µm to construct an ultradeep image, reaching as deep as ≈ 31.4 AB mag in the stack and
30.3-31.0 AB mag (5σ, r = 0.1” circular aperture) in individual filters. We measure photometric
redshifts and use robust selection criteria to identify a sample of eight galaxy candidates at redshifts
z = 11.5 − 15. These objects show compact half-light radii of R1/2 ∼ 50 − 200pc, stellar masses of
M⋆ ∼ 107−108M⊙, and star-formation rates of SFR ∼ 0.1−1 M⊙ yr−1
. Our search finds no candidates
at 15 < z < 20, placing upper limits at these redshifts. We develop a forward modeling approach to
infer the properties of the evolving luminosity function without binning in redshift or luminosity that
marginalizes over the photometric redshift uncertainty of our candidate galaxies and incorporates the
impact of non-detections. We find a z = 12 luminosity function in good agreement with prior results,
and that the luminosity function normalization and UV luminosity density decline by a factor of ∼ 2.5
from z = 12 to z = 14. We discuss the possible implications of our results in the context of theoretical
models for evolution of the dark matter halo mass function.
A brief information about the SCOP protein database used in bioinformatics.
The Structural Classification of Proteins (SCOP) database is a comprehensive and authoritative resource for the structural and evolutionary relationships of proteins. It provides a detailed and curated classification of protein structures, grouping them into families, superfamilies, and folds based on their structural and sequence similarities.
Cancer cell metabolism: special Reference to Lactate PathwayAADYARAJPANDEY1
Normal Cell Metabolism:
Cellular respiration describes the series of steps that cells use to break down sugar and other chemicals to get the energy we need to function.
Energy is stored in the bonds of glucose and when glucose is broken down, much of that energy is released.
Cell utilize energy in the form of ATP.
The first step of respiration is called glycolysis. In a series of steps, glycolysis breaks glucose into two smaller molecules - a chemical called pyruvate. A small amount of ATP is formed during this process.
Most healthy cells continue the breakdown in a second process, called the Kreb's cycle. The Kreb's cycle allows cells to “burn” the pyruvates made in glycolysis to get more ATP.
The last step in the breakdown of glucose is called oxidative phosphorylation (Ox-Phos).
It takes place in specialized cell structures called mitochondria. This process produces a large amount of ATP. Importantly, cells need oxygen to complete oxidative phosphorylation.
If a cell completes only glycolysis, only 2 molecules of ATP are made per glucose. However, if the cell completes the entire respiration process (glycolysis - Kreb's - oxidative phosphorylation), about 36 molecules of ATP are created, giving it much more energy to use.
IN CANCER CELL:
Unlike healthy cells that "burn" the entire molecule of sugar to capture a large amount of energy as ATP, cancer cells are wasteful.
Cancer cells only partially break down sugar molecules. They overuse the first step of respiration, glycolysis. They frequently do not complete the second step, oxidative phosphorylation.
This results in only 2 molecules of ATP per each glucose molecule instead of the 36 or so ATPs healthy cells gain. As a result, cancer cells need to use a lot more sugar molecules to get enough energy to survive.
Unlike healthy cells that "burn" the entire molecule of sugar to capture a large amount of energy as ATP, cancer cells are wasteful.
Cancer cells only partially break down sugar molecules. They overuse the first step of respiration, glycolysis. They frequently do not complete the second step, oxidative phosphorylation.
This results in only 2 molecules of ATP per each glucose molecule instead of the 36 or so ATPs healthy cells gain. As a result, cancer cells need to use a lot more sugar molecules to get enough energy to survive.
introduction to WARBERG PHENOMENA:
WARBURG EFFECT Usually, cancer cells are highly glycolytic (glucose addiction) and take up more glucose than do normal cells from outside.
Otto Heinrich Warburg (; 8 October 1883 – 1 August 1970) In 1931 was awarded the Nobel Prize in Physiology for his "discovery of the nature and mode of action of the respiratory enzyme.
WARNBURG EFFECT : cancer cells under aerobic (well-oxygenated) conditions to metabolize glucose to lactate (aerobic glycolysis) is known as the Warburg effect. Warburg made the observation that tumor slices consume glucose and secrete lactate at a higher rate than normal tissues.
Deep Behavioral Phenotyping in Systems Neuroscience for Functional Atlasing a...Ana Luísa Pinho
Functional Magnetic Resonance Imaging (fMRI) provides means to characterize brain activations in response to behavior. However, cognitive neuroscience has been limited to group-level effects referring to the performance of specific tasks. To obtain the functional profile of elementary cognitive mechanisms, the combination of brain responses to many tasks is required. Yet, to date, both structural atlases and parcellation-based activations do not fully account for cognitive function and still present several limitations. Further, they do not adapt overall to individual characteristics. In this talk, I will give an account of deep-behavioral phenotyping strategies, namely data-driven methods in large task-fMRI datasets, to optimize functional brain-data collection and improve inference of effects-of-interest related to mental processes. Key to this approach is the employment of fast multi-functional paradigms rich on features that can be well parametrized and, consequently, facilitate the creation of psycho-physiological constructs to be modelled with imaging data. Particular emphasis will be given to music stimuli when studying high-order cognitive mechanisms, due to their ecological nature and quality to enable complex behavior compounded by discrete entities. I will also discuss how deep-behavioral phenotyping and individualized models applied to neuroimaging data can better account for the subject-specific organization of domain-general cognitive systems in the human brain. Finally, the accumulation of functional brain signatures brings the possibility to clarify relationships among tasks and create a univocal link between brain systems and mental functions through: (1) the development of ontologies proposing an organization of cognitive processes; and (2) brain-network taxonomies describing functional specialization. To this end, tools to improve commensurability in cognitive science are necessary, such as public repositories, ontology-based platforms and automated meta-analysis tools. I will thus discuss some brain-atlasing resources currently under development, and their applicability in cognitive as well as clinical neuroscience.
Nutraceutical market, scope and growth: Herbal drug technologyLokesh Patil
As consumer awareness of health and wellness rises, the nutraceutical market—which includes goods like functional meals, drinks, and dietary supplements that provide health advantages beyond basic nutrition—is growing significantly. As healthcare expenses rise, the population ages, and people want natural and preventative health solutions more and more, this industry is increasing quickly. Further driving market expansion are product formulation innovations and the use of cutting-edge technology for customized nutrition. With its worldwide reach, the nutraceutical industry is expected to keep growing and provide significant chances for research and investment in a number of categories, including vitamins, minerals, probiotics, and herbal supplements.
1. TURNER SYNDROME
Is also known as
"Gonadal dysgenesis”
Is a chromosome
abnormality found in
females in which
secondary sex
characteristics are
developed only with the
administration of female
hormones. Any
abnormality in the
internal reproductive
organs cause permanent
sterility.
2. HISTORY
• Named after Henry
Turner, the
endocrinologist who
described this
condition in 1938
• He described 7 patients
between the ages of
15 and 23, who were
referred to him for
dwarfism and lack of
sexual development
3. TURNER SYNDROME
• Is a genetic condition
that only affects
females
• This condition caused
by an abnormal
chromosome and
affects about one in
every 2,500 baby girls
4. HOW DOES IT OCCUR?
• Turner syndrome is
typically caused by
nondisjunction
• A pair of sex
chromosomes fails to
separate during the
formation of an egg (or
sperm)
5. SIGNS AND SYMPTOMS
Possible symptoms in young
infants:
• Swollen hands and feet
• Wide and webbed neck
and a low or indistinct
hairline
Older females:
• absent or incomplete
development at puberty
• A broad chest and
widely spaced nipples
6. SIGNS AND SYMPTOMS
Older females:
• Drooping eyelids, dry
eyes
• Infertility
• No periods
• Short height
• Vaginal dryness
• Arms that turn out
slightly at the elbow
8. KLINEFELTER’S SYNDROME
is a form of
chromosome
abnormality
characterized by
feminine physical
characteristics like
breast development
and rounded broad,
hipped figure.
10. KLINEFELTER SYNDROME
Because of the extra
chromosome, individuals
with the condition are
usually referred to as :
47,xxy=xxy males
This chromosome
constitution (karyotype)
exist in roughly between
1:500 to 1:1000 live male
births
12. SIGNS AND SYMPTOMS
Babies:
Weak muscles
Slow motor
development
Quiet, docile
personality
Problems at birth, such
as testicles that
haven’t descended
into the scrotum
13. SIGNS AND SYMPTOMS
Boy 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 and firm testicles
• Small penis
• Enlarged breast tissue
(gynecomastia)
• Weak bones
• Low energy levels
• Shyness
• Difficulty expressing
feelings or socializing
• Problems with reading,
writing, spelling or math
• Attention problems
15. SIGNS AND SYMPTOMS
Men
• Weak bones
• Decreased facial and
body hair
• Enlarged breast tissue
• Decreased sex drive or
sexual problems
• Infertility
• Small testicles and penis
• Taller than average
stature
16. DIAGNOSING KLINEFELTER SYNDROME
• The greatest chances to
make Klinefelters’s
diagnosing are in the
following times of life:
Before or shortly after
birth
Early childhood
Adolescence
Adulthood
17. TESTS
Chromosome analysis
Also called karyotyping
analysis, this test is used to
confirm a diagnosis of
Klinefelter syndrome.
Hormone testing
blood or urine samples
can reveal abnormal
hormone levels that are
the sign of Klinefelter
syndrome. The doctor
may take samples to be
evaluated in the lab.
18. TESTS
Prenatal testing:
Amniocentesis
• In amniocentesis a
sample of the fluid
surrounding the fetus
is withdrawn
Chorionic villus
sampling
• To determine
chromosomal or
genetic disorders
19. TREATMENT
Testosterone
• Can normalize body
proportions and
promote
development of
normal secondary sex
characteristics
In vitro fertilization
• Is a process by which
an egg is fertilised by
sperm outside the
body
20. FRAGILE X SYNDROME
It’s a single gene in the
brain cell that shuts
down that causes
Fragile X Syndrome.
21. SIGNS AND SYMPTOMS
Prominent characteristics of
the syndrome
Large protruding ears
(one or both)
Long face (vertically
maxillary excess)
High-arched palate
Hyperextensible finger
joints
23. TREATMENT
• Research has not found
a cure yet but there is
many therapies
available to help the
person with fragile x
syndrome
Special education
Speech and language
therapy
Occupational therapy
medication
24. PERVASIVE DEVELOPMENTAL
DISORDERS
Is a collection of
disorders
characterized by gross
deficits in many areas
of cognitive,
emotional, and social
development. These
results from severe and
pervasive impairment
of social interaction
and communication
skills.
25. SCHIZOPHRENIA
• Pervasive
developmental
disorder have been
often been confused
with schizophrenia a
serious disorder
characterized by
hallucinations,
delusions, and other
kinds of thought of
disorder not found in
the pervasive
developmental
disorder.
27. EXCEPTIONAL DEVELOPMENT
• Every child is unique to
himself, in personality traits,
in cognitive abilities, in
physical stature, in
emotional stability and
others. Among children,
these differences are highly
noticeable.
• Even in the aspect of
learning some children are
fast learner, those gifted
with exceptional intellectual
capabilities and some are
slow, those who function at
significantly lower
intellectual levels.
28. THE INTELLECTUALLY GIFTED
• Think in different ways
• Think about their work in more
than one way
• Talented at solving problems
with what is around them
• Are very aware of events
going on around them
• Enjoy observing their
surroundings
• Enjoy observing their
surroundings
• Are risk takers
• Are not boastful about
accomplishments
• Are motivated to learn
through own
accomplishments
29. CHILDREN WITH INTELLECTUAL
DEFICITS
Down Syndrome (cause)
• Down syndrome results
when abnormal cell
division involving
chromosome 21 occurs.
These cell division
abnormalities result in
extra genetic material
from chromosome 21,
which is responsible for
the characteristic
features and
developmental problems
of Down syndrome.
30. DOWN SYNDROME FEATURES
Brachycephaly (short
skull front-to back)
Excess nuchal (back of
neck) skin
Hypoplastic
(underdeveloped)
midface
Upslanting palpebral
fissures (eyelids)
Small ears w/ over-
folded helices
31. DOWN SYNDROME FEATURES
• 5th finger clinodactyly
(incurving)
• Wide gap between 1st
and 2nd toes
• Single transverse
palmar crease(s) (40%)
• Heart defect (45%)
• Fine, soft hair
32. TESTS
Prenatal testing:
Amniocentesis
• In amniocentesis a
sample of the fluid
surrounding the fetus
is withdrawn
Chorionic villus
sampling
• To determine
chromosomal or
genetic disorders