A cytological technique to detect the nature of adjacent chromosomal regions by using different staining technique assisted with some pre treatment of metaphase chromosomes prepared on the slides
A cytological technique to detect the nature of adjacent chromosomal regions by using different staining technique assisted with some pre treatment of metaphase chromosomes prepared on the slides
Define 'structural chromosomal abnormalities;
define and describe each of the following.
Deletion
Inversion
Ring chromosome
Duplication
Translocation
Robertsonian translocation
Isochromosome
Illustrate the features of some cytogenetic
disorders:
Down syndrome.
Cri du chat.
Turner syndrome.
Klinefelter syndrome.
What is it? And Classification Genetic Syndrome
Its effect on animal reproduction and Production Effects on Animal Breeding
Detection of Chromosomal Abnormality Detection of chromosomal abnormality
Genes, Chromosomes, and Genetic Code: Relevance and ImplicationsJen Gragera
Genes are the thing that determines your unique traits from the inside out. They play an important role in your overall health but they can also make you more susceptible for certain health problems and diseases, in the first place those that run in your family. Most diseases are a result of a combination of multiple factors including dietary, lifestyle and environmental factors. However, it is also possible to develop health problems exclusively due to genetic abnormalities and mutations.
With the discovery in 1956 that the correct chromosome number in humans is 46, the new era of clinical
cytogenetics began its rapid growth. During the next few years, several major chromosomal
syndromes with altered numbers of chromosomes were reported, i.e. Downsyndrome (trisomy21),
turner syndrome (45,x) and klinefelter syndrome (47,xxy). Since then it has been well established that
chromosome abnormalities contribute significantly to genetic disease resulting in reproductive loss,
infertility, stillbirths, congenital anomalies, abnormal sexual developmentmental retardation and
pathogenesis of malignancy.specific chromosome abnormalities have been associated with over 60
identifiable syndromes. They are present in at least 50% of spontaneous abortions, 6% of stillbirths,
about 5% of couples with two or more miscarriages and approximately 0.5% of newborns. In women
aged 35 or over, chromosome abnormalities are detected in about 2% of all pregnancies. Some of the
abnormalities and their clinical consequences will be Discussed in the following sections.
Please answer the question carefully.Name and briefly describe 4 d.pdflongojasperze84880
Plasmid pRIT452 was cut with Pstl. HindlII, and EcoRI. From the data below, determine the
map Pstl HindIll. 6.2 EcoRI PstI HindIII 4.8 2.0 1.7 Pstl EcoRI 5.4 3.8 3.0 EcoRI HindlII 6.2 1.8
1.2 Plasmid pRIT453 was cut with smal, Hindlu, and EcoRI. From the data low, determine the
map. EcoRI 1.6 Hindlll 1.9 Smal 6.6 EcoRI Hindlll 4.5 1.9 1.6 EcoRI Smal 5.7 0.7 Smal HindIII
2.7 2.2 1.9 e the ry on only des o nega
Solution
figure shows pRIT452 map, in the same way ,it can map pRIT453 also. first draw a gel running
like picture then compare fragment with different enzyme and find out exact position
accordingly.
Here, Genetic disorder and chromosomal abnormality discussed briefly. *Types of the genetic disorder *briefly discussed on different genetic diseases *chromosomal anomaly i.e. structural and numerical anomaly. etc.
Similar to Chromosomal and Genetic abnormalities (20)
It is one of the techniques used by marketeers or people in general to get the target person to say "YES" . This topic is of more interest under the field of "consumer psychology".
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
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
The prostate is an exocrine gland of the male mammalian reproductive system
It is a walnut-sized gland that forms part of the male reproductive system and is located in front of the rectum and just below the urinary bladder
Function is to store and secrete a clear, slightly alkaline fluid that constitutes 10-30% of the volume of the seminal fluid that along with the spermatozoa, constitutes semen
A healthy human prostate measures (4cm-vertical, by 3cm-horizontal, 2cm ant-post ).
It surrounds the urethra just below the urinary bladder. It has anterior, median, posterior and two lateral lobes
It’s work is regulated by androgens which are responsible for male sex characteristics
Generalised disease of the prostate due to hormonal derangement which leads to non malignant enlargement of the gland (increase in the number of epithelial cells and stromal tissue)to cause compression of the urethra leading to symptoms (LUTS
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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.
New Directions in Targeted Therapeutic Approaches for Older Adults With Mantl...i3 Health
i3 Health is pleased to make the speaker slides from this activity available for use as a non-accredited self-study or teaching resource.
This slide deck presented by Dr. Kami Maddocks, Professor-Clinical in the Division of Hematology and
Associate Division Director for Ambulatory Operations
The Ohio State University Comprehensive Cancer Center, will provide insight into new directions in targeted therapeutic approaches for older adults with mantle cell lymphoma.
STATEMENT OF NEED
Mantle cell lymphoma (MCL) is a rare, aggressive B-cell non-Hodgkin lymphoma (NHL) accounting for 5% to 7% of all lymphomas. Its prognosis ranges from indolent disease that does not require treatment for years to very aggressive disease, which is associated with poor survival (Silkenstedt et al, 2021). Typically, MCL is diagnosed at advanced stage and in older patients who cannot tolerate intensive therapy (NCCN, 2022). Although recent advances have slightly increased remission rates, recurrence and relapse remain very common, leading to a median overall survival between 3 and 6 years (LLS, 2021). Though there are several effective options, progress is still needed towards establishing an accepted frontline approach for MCL (Castellino et al, 2022). Treatment selection and management of MCL are complicated by the heterogeneity of prognosis, advanced age and comorbidities of patients, and lack of an established standard approach for treatment, making it vital that clinicians be familiar with the latest research and advances in this area. In this activity chaired by Michael Wang, MD, Professor in the Department of Lymphoma & Myeloma at MD Anderson Cancer Center, expert faculty will discuss prognostic factors informing treatment, the promising results of recent trials in new therapeutic approaches, and the implications of treatment resistance in therapeutic selection for MCL.
Target Audience
Hematology/oncology fellows, attending faculty, and other health care professionals involved in the treatment of patients with mantle cell lymphoma (MCL).
Learning Objectives
1.) Identify clinical and biological prognostic factors that can guide treatment decision making for older adults with MCL
2.) Evaluate emerging data on targeted therapeutic approaches for treatment-naive and relapsed/refractory MCL and their applicability to older adults
3.) Assess mechanisms of resistance to targeted therapies for MCL and their implications for treatment selection
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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.
New Drug Discovery and Development .....NEHA GUPTA
The "New Drug Discovery and Development" process involves the identification, design, testing, and manufacturing of novel pharmaceutical compounds with the aim of introducing new and improved treatments for various medical conditions. This comprehensive endeavor encompasses various stages, including target identification, preclinical studies, clinical trials, regulatory approval, and post-market surveillance. It involves multidisciplinary collaboration among scientists, researchers, clinicians, regulatory experts, and pharmaceutical companies to bring innovative therapies to market and address unmet medical needs.
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.
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.
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Stay informed, stay safe, and get your flu shot today!
2. Chromosomal and genetic
abnormalities
O A chromosome anomaly, abnormality or
aberration is a missing, extra, or irregular
portion of chromosomal DNA.
O It can be from an atypical number of
chromosomes or a structural abnormality
in one or more chromosome.
O Chromosome anomalies usually occur
when there is an error in cell division
following meiosis or mitosis..
3. Types of chromosomal
anomalies
There are many types of chromosome
anomalies. They can be organized into two
basic groups:
numerical
structural
4. Numerical disorder
O This is called aneuploidy (an abnormal
number of chromosomes), and occurs
when an individual is missing either a
chromosome from a pair (monosomy) or
has more than two chromosomes of a pair
(trisomy, tetrasomy, etc.).
7. Symptoms of Down Syndrome
O Upward slant to eyes.
O Small ears that fold over at the top.
O Small, flattened nose.
O Small mouth, making tongue appear
large.
O Short neck.
O Small hands with short fingers
8. O Low muscle tone.
O Single deep crease across center of palm.
O Looseness of joints.
O Small skin folds at the inner corners of the
eyes.
O Excessive space between first and second
toe.
O In addition, down syndrome always
involves some degree of mental
retardation, from mild to severe. In most
cases, the mental retardation is mild to
moderate.
15. O Deletions: A portion of the chromosome is
missing or deleted. Known disorders in
humans include Wolf-Hirschhorn
syndrome, which is caused by partial
deletion of the short arm of chromosome
4; and Jacobsen syndrome, also called
the terminal 11q deletion disorder.
17. O A portion of the chromosome is
duplicated, resulting in extra genetic
material. Known human disorders include
Charcot-Marie-Tooth disease type 1A
which may be caused by duplication of the
gene encoding peripheral myelin protein
22 (PMP22) on chromosome 17.
20. O A portion of one chromosome is
transferred to another chromosome.
There are two main types of
translocations:
O Reciprocal translocation: Segments
from two different chromosomes have
been exchanged.
O Robertsonian translocation: An entire
chromosome has attached to another at
the centromere - in humans these only
occur with chromosomes 13, 14, 15, 21
and 22.
22. O Inversions: A portion of the chromosome has
broken off, turned upside down and
reattached, therefore the genetic material is
inverted.
O Insertions: A portion of one chromosome has
been deleted from its normal place and
inserted into another chromosome.
O Rings: A portion of a chromosome has broken
off and formed a circle or ring. This can
happen with or without loss of genetic
material.
O Isochromosome: Formed by the mirror image
copy of a chromosome segment including the
centromere.
23. O Chromosome instability syndromes are a
group of disorders characterized by
chromosomal instability and breakage.
They often lead to an increased tendency
to develop certain types of malignancies.
24.
25. O Sickle cell disease is most commonly
found in African American
populations. This disease was discovered
over 80 years ago, but has not been given
the attention it deserves.
26.
27.
28.
29.
30.
31. Huntington’s Disease
Huntington's disease (HD) is an
inherited, degenerative brain
disorder which results in an
eventual loss of both mental
and physical control. The
disease is also known as
Huntington's chorea. Chorea
means "dance-like movements"
and refers to the uncontrolled
motions often associated with
the disease.
32.
33.
34. Phenylketonuria or PKU
O People with PKU cannot consume any
product that contains aspartame.
O PKU is a metabolic disorder that results
when the PKU gene is inherited from both
parents .
O Caused by a deficiency of an enzyme
which is necessary for proper metabolism
of an amino acid called phenylalanine.
35. O Phenylalanine is an essential amino acid and
is found in nearly all foods which contain
protein, dairy products, nuts, beans, tofu…
etc.
O A low protein diet must be followed.
O Brain damage can result if the diet is not
followed causing mental retardation…and
mousy body odor (phenylacetic acid is in
sweat).
36. Color Blindness
Cause: x-linked recessive
1/10 males have, 1/100 females have
Individuals are unable to distinguish shades of
red-green
37.
38.
39.
40.
41.
42. Inheritance
O Most chromosome abnormalities occur as
an accident in the egg or sperm, and
therefore the anomaly is present in every
cell of the body. Some anomalies,
however, can happen after conception,
resulting in Mosaicism (where some cells
have the anomaly and some do not).
43. O Chromosome anomalies can be inherited
from a parent or it maybe a mutation. This
is why chromosome studies are often
performed on parents when a child is
found to have an anomaly. If the parents
do not possess the abnormality it was not
initially inherited; however it may be
transmitted to subsequent generations.
44. How do chromosome
abnormalities happen?
O Chromosome abnormalities usually occur when there is an error in cell
division. There are two kinds of cell division.
O Mitosis results in two cells that are duplicates of the original cell. In
other words, one cell with 46 chromosomes becomes two cells with 46
chromosomes each. This kind of cell division occurs throughout the
body, except in the reproductive organs. This is how most of the cells
that make up our body are made and replaced.
O Meiosis results in cells with half the number of chromosomes, 23
instead of the normal 46. These are the eggs and sperm.
O
O In both processes, the correct number of chromosomes is
O supposed to end up in the resulting cells. However, errors in cell
division can result in cells with too few or too many copies of a
chromosome. Errors can also occur when the chromosomes are being
duplicated.
45. O Other factors that can increase the risk of
chromosome abnormalities are:
O Maternal Age: Women are born with all the
eggs they will ever have. Therefore, when a
woman is 30 years old, so are her eggs.
Some researchers believe that errors can
crop up in the eggs' genetic material as they
age over time. Therefore, older women are
more at risk of giving birth to babies with
chromosome abnormalities than younger
women. Since men produce new sperm
throughout their life, paternal age does not
increase risk of chromosome abnormalities.
46. O Environment: Although there is no
conclusive evidence that specific
environmental factors cause chromosome
abnormalities, it is still a possibility that
the environment may play a role in the
occurrence of genetic errors.