This document discusses several genetic disorders and diseases:
1. It lists 13 genetic diseases including Gaucher Disease, Huntington's Disease, Hemophilia, Parkinson's Disease, and Cystic Fibrosis.
2. It categorizes genetic disorders into four types - single gene disorders, multifactorial disorders caused by multiple genes and environment, chromosomal abnormalities, and mitochondrial disorders.
3. It provides brief descriptions of some specific genetic disorders like Gaucher Disease caused by enzyme deficiency, Huntington's Disease causing uncontrolled movements, and Hemophilia being a bleeding disorder linked to the X chromosome.
This presentation is based on genetic disorders. It is a vast topic and I have tried to focus on autosomal disorders along with a general introduction.
Fragile X syndrome causes mild to severe intellectual disability. It affects both males and females, but females usually have milder symptoms.
Symptoms include delays in talking, anxiety and hyperactive behaviour. Some people have seizures. Physical features might include large ears, a long face, a prominent jaw and forehead and flat feet.
Therapy can be used to treat learning disabilities. Medication may be used to treat anxiety and mood disorders.
This presentation is based on genetic disorders. It is a vast topic and I have tried to focus on autosomal disorders along with a general introduction.
Fragile X syndrome causes mild to severe intellectual disability. It affects both males and females, but females usually have milder symptoms.
Symptoms include delays in talking, anxiety and hyperactive behaviour. Some people have seizures. Physical features might include large ears, a long face, a prominent jaw and forehead and flat feet.
Therapy can be used to treat learning disabilities. Medication may be used to treat anxiety and mood disorders.
"Epigenetics refers to genetic factors that change an organism’s appearance or biological functions without changing the actual DNA sequence. In other words, gene expression changes but the genes themselves don’t. Epigenetics adds an additional level of complexity to the genetic code." - Public Health Cafe
This presentation on Epigenetics is most advanced and evidence based one. Its Very helpful for Genetics students and research fellows, Reproductive Medicine specialist, Reproductive Biologist, Infertility practitioners
It is a powerpoint presentation that discusses about the lesson or topic: Mendelian Inheritance. It also talks about the definition, history and the laws included in the Mendelian Inheritance or Mendelian Genetics.
An inherited enzyme deficiency leading to the disruption of normal bodily metabolism.
Accumulation of a toxic substrate.
Impaired formation of a product normally produced by the deficient enzyme.
INBORN ERRORS OF METABOLISM, PKU, PHENYLKETONURIA, BY: MR. DINABANDHU BARAD, MSC TUTOR, SUM NURSING COLLEGE, SIKSHA O ANUSANDHAN DEEMED TO BE UNIVERSITY, BHUBANESWAR, ODISHA
"Epigenetics refers to genetic factors that change an organism’s appearance or biological functions without changing the actual DNA sequence. In other words, gene expression changes but the genes themselves don’t. Epigenetics adds an additional level of complexity to the genetic code." - Public Health Cafe
This presentation on Epigenetics is most advanced and evidence based one. Its Very helpful for Genetics students and research fellows, Reproductive Medicine specialist, Reproductive Biologist, Infertility practitioners
It is a powerpoint presentation that discusses about the lesson or topic: Mendelian Inheritance. It also talks about the definition, history and the laws included in the Mendelian Inheritance or Mendelian Genetics.
An inherited enzyme deficiency leading to the disruption of normal bodily metabolism.
Accumulation of a toxic substrate.
Impaired formation of a product normally produced by the deficient enzyme.
INBORN ERRORS OF METABOLISM, PKU, PHENYLKETONURIA, BY: MR. DINABANDHU BARAD, MSC TUTOR, SUM NURSING COLLEGE, SIKSHA O ANUSANDHAN DEEMED TO BE UNIVERSITY, BHUBANESWAR, ODISHA
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Ve...kevinkariuki227
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
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.
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
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
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
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.
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
Acute scrotum is a general term referring to an emergency condition affecting the contents or the wall of the scrotum.
There are a number of conditions that present acutely, predominantly with pain and/or swelling
A careful and detailed history and examination, and in some cases, investigations allow differentiation between these diagnoses. A prompt diagnosis is essential as the patient may require urgent surgical intervention
Testicular torsion refers to twisting of the spermatic cord, causing ischaemia of the testicle.
Testicular torsion results from inadequate fixation of the testis to the tunica vaginalis producing ischemia from reduced arterial inflow and venous outflow obstruction.
The prevalence of testicular torsion in adult patients hospitalized with acute scrotal pain is approximately 25 to 50 percent
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.
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Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
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Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
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!
3.
1. Single Gene:
› Disorders caused by abnormality or mutation in the
sequence of one gene
2. Multifactorial:
› Caused by a combination of environmental as well as
mutations in multiple genes
3. Chromosomal:
› Abnormalities in chromosome structure such as
missing or extra copies
4. Mitochondrial:
Caused by a mutation in the non chromosomal DNA
›
of the mitochondria.
4.
Gaucher disease is a genetic disorder handed down
from generation to generation. It is the most common
of the lipid storage diseases. It is caused by
deficiency of the enzyme, β-glucocerebrosidase.
When there is not enough of the enzyme, the fat can
not be broken down and is stored primarily in the
liver and spleen
Other body tissues, bones and organs may also be
affected. In rare cases, it may also accumulate in the
brain.
6.
In the past the only potential treatment was removal
of the spleen (splenectomy).
This has given way to injections of a replacement
synthetic enzyme (Cerezyme/Ceredase).
Gene therapy is an experimental approach.
A novel oral treatment has recently been evaluated.
This drug is known as N-butyldeoxynojirimycin
(OGT 918).
The mechanism of action is by inhibiting the
formation of glucocerebroside ( important
components in animal muscle and nerve cell
membranes.)
7. Huntington’s
Disease results from
genetically programmed degeneration
of nerve cells in certain areas of the
brain.
This degeneration causes
uncontrolled movements, loss of
intellectual faculties, and emotional
disturbance.
8.
Early signs of Huntington’s disease
include mood swings and irritability,
depression, loss of memory, and
uncontrolled movements.
As the disease progresses, walking
and speech become more difficult,
and memory and intellectual
functions continue to decline.
9. Hemophilia is the oldest known bleeding
disorder.
It is a sex-linked disorder, which is why it
appears mostly in males.
Hemophilia is like any other sex-linked
disorder, because the “hemophilia” gene is on
the X chromosome.
2 types of Hemophilia:
› Hemophilia A: Lack the blood clotting
protein factor VIII
› Hemophilia B: Lack the blood clotting
protein factor IX.
10.
11.
Clotting factors: Given in differing doses
according to the weight of the individual and the
severity of the bleeding.
Recombinant DNA Techniques: Clotting factor
genes are grown synthetically.
Clotting factor products from human blood
plasma are not used due to chances of being
contaminated with viruses such as HIV or
Hepatitis.
During the 1990s it became possible to prepare
synthetic (recombinant) factors, using specially
prepared mammalian cells and these recombinant
concentrates are now widely used.
12. Gene Therapy
› A major focus of research in hemophilia centers.
› Because only one defective gene is involved,
replacing that gene effectively may cure
hemophilia.
› Although gene therapy may eventually replace
treatment for individuals with hemophilia, it will
not eliminate defective genes in carriers, who
could still pass hemophilia to their children.
› Currently studies are being conducted for type B
hemophilia to determine the safety of the gene
transfers.
13. Parkinson’ s disease is a
neurological condition
that has a genetic
component next to
Alzheimer’s.
The chance of getting or
developing Parkinson’s
gets higher as age
increases.
14. DOPAMINE Chemical produced in the middle part of the brain
that is responsible for organizing coordinated movements and to
send this signal to the control centers of the brain.
•In Parkinson’s disease, this chemical is not produced enough and
functioning starts to shut down slowly & patient begins to lose
control over many vital voluntary movements from swallowing to
walking.
SYMPTOMS Some symptoms include hand tremor, muscle
spasms, rigidity, lack of postural stability, memory loss,
blurriness, drooling, and difficulty in voluntary movements.
15. Rare metabolic autosomal recessive disorder
Affects protein breakdown in the liver resulting in mental
retardation & genetic Mutation occurs on Chromosome 12
The mutated gene is supposed to code for a protein which
produces phenylalanine hydroxylase
Without phenylalanine hydroxylase, phenylalanine (found in
protein rich foods) cannot be converted to tyrosine
Excess phenylalanine in the body will result in mass
production of phenylpyruvic acid
Phenylpyruvic acid cannot be absorbed by the kidney and thus
excess phenylalanine and phenylpyruvic acid enters
cerebrospinal fluid and then the brain causing severe mental
retardation.
17. •
If Untreated in Infants:
•Severe brain damage
•Epilepsy
•Behavioral Problems
•Stunted growth
•Symptoms Throughout Life if Treatment is not Followed Closely:
•Musty body odor
•Increased muscle tone
•Fair skin
•Vomiting
•Active muscle tendon reflexes
18. •Due to the large amount of research done in
Phenylketonuria patients can live a normal life while
adhering to a strict protein-free diet
•Research is still being done to determine if there is a
better biochemical model for the effects of PKU on the
body
•If more detailed biochemical pathways of the effects of
PKU can be determined there may be a method of
introducing necessary chemical properties into the body,
preventing some of the long term effects of PKU.
22.
An inherited disease
that affects sodium
channels in the body
and causes respiratory
and digestive problems.
23.
There is no cure for Cystic Fibrosis and treatment
can slow progression of the disease
One in 25 people carry the gene but will have no
symptoms
CF is usually diagnosed at birth
CF is not contagious
CF occurs in males and females.
24.
Caused by genetic mutation in a
single gene on chromosome 7.
Gene contains building info for
CFTR(Cystic
fibrosis
transmembrane conductance
regulator (CFTR)
is
a protein that in humans is
encoded by the CFTR gene.)
Mutation causes a CFTR that
won’t open.
25.
Excessive production of thick, sticky mucus in
the airways
Affects tissues in the airway, gastrointestinal
tract, ducts of the pancreas, the bile ducts of the
liver, and the male urogenital tract
Causes difficultly clearing infections and can
result in lung damage over a period of time.
26.
Persistent cough, with great physical effort
Some difficulty breathing
Tiredness, lethargy or an impaired exercise ability
Frequent visits to the toilet
Salt loss in hot weather which may produce muscle
cramps or weakness
Poor appetite.
27.
Chest physiotherapy
Antibiotics
Inhalations via a compressed air pump and
nebuliser
Enzyme replacement capsules with meals and
snacks
A well balanced diet high in protein, fat and
kilojoules
Supplementary vitamins
Salt supplements
Regular exercise.
28.
Down syndrome is caused by an extra chromosome
present on chromosome 21
› Down syndrome is caused by mutations
› Forms of Down syndrome
Klinefelter’s disease(Klinefelter syndrome,
also known as the XXY condition, is a term
used to describe males who have an extra X
chromosome in most of their cells. )
Turner’s syndrome(Turner syndrome is a
chromosomal condition related to the X
chromosome that alters development in
females.It
leads
to
infertility,webbed
neck,lymphedema, skeletal abnormalities,
heart defects and kidney problems.)
29.
Philadelphia
chromosome
(Philadelphia
chromosome or Philadelphia translocation is
a specific chromosomal abnormality that is
associated
with chronic
myelogenous
leukemia (CML). It is the result of a
reciprocal translocation between chromosome 9
and 22,)
› A genetic form of Down syndrome:
Mosaicism:Mosaicism is a condition in which cells
within the same person have a different genetic
makeup. This condition can affect any type of cell,
including:
Blood cells
Egg and sperm cells (gametes)
Skin cells
30.
31.
There is no single, standard treatment for Down syndrome.
Treatments are based on each individual's physical and intellectual
needs as well as his or her personal strengths and limitations.
Treatment Therapies
Physical therapy includes activities and exercises that help build
motor skills, increase muscle strength, and improve posture and
balance.
Speech-language therapy can help children with Down syndrome
improve their communication skills and use language more
effectively.
Occupational therapy helps find ways to adjust everyday tasks and
conditions to match a person's needs and abilities.
Emotional and behavioral therapies work to find useful responses
to both desirable and undesirable behaviors.
32.
Alzheimers is a form of dementia that causes
changes in the brain, and affects a person’s memory,
mood, and behavior.
Disease mostly affects people over 65.
Diagnosis:
› There is no specific test for Alzheimer’s disease,
however, physician are able to look at a person’s
medical history, do a complete physical or give a
memory and/or psycological test to see how well
the brain works.
› Brain scan.
33.
Severe combined immunodeficiency (SCID) represents a group of rare,
sometimes fatal, congenital disorders characterized by little or no
immune response. The defining feature of SCID, commonly known as
"bubble boy" disease, is a defect in the specialized white blood cells (Band T-lymphocytes) that defend us from infection by viruses, bacteria
and fungi. Without a functional immune system, SCID patients are
susceptible to recurrent infections such as pneumonia, meningitis and
chicken pox, and can die before the first year of life. Though invasive,
new treatments such as bone marrow and stem-cell transplantation save
as many as 80% of SCID patients.
All forms of SCID are inherited, with as many as half of SCID cases
linked to the X chromosome, passed on by the mother.
It is also known as the bubble boy disease because its victims are
extremely vulnerable to infectious diseases and some of them, such
as David Vetter, become famous for living in a sterile environment.
35.
The most common treatment
for SCID is bone marrow
transplantation.
David Vetter, the original
"bubble boy", had one of the
first transplantations, but
eventually died because of an
unscreened virus, EpsteinBarr (tests were not available
at the time), in his newly
transplanted bone marrow
from his sister, an unmatched
bone marrow donor.
36.
37.
Severe disorder from an array of the Autism
Spectrum Disorders (ASD)
Another common form of ASD is Asperger
Syndrome
Developmental disorder affects parts of brain,
notably the amygdala {are almond-shaped groups
of nuclei located deep and medially within
the temporal lobes of the brain}, hippocampus{plays
important roles in the consolidation of information
from short-term memory to long-term memory},and
cerebellum
› immune system, and gastrointestinal tract
1 out of 150 people are affected
More prevalent in males than in females.
41. •Stem cell collected from adult
can be harvested from many area
including the bone marrow.
•Alternative to Embryonic Stem
cells
•Potential to reverse and cure
Diabetes
42. •Use undifferentiated cell from
embryos and cultures them to
grow into need cells
•Many ethical and social concerns
surrounding this research
•Neurons Grown from Embryonic
Stem Cells Restore Function in
Paralyzed Rats
•Hold potential cures for 1000s of
diseases many genetic disorders.
43. •This treatment is aimed at
women who would pass on a
genetic defect to the child.
•Also helps women who suffer
with mitochondria disease.
•Faulty genes are removed from
the embryo , and replaced by
healthy genes from the
additional woman.
44. •Using stem cells to replace
or create tissues and organs
•Currently heart tissues and
full bladders are being grow
in lab
Fig. Stem cell treatments and
tissues recreated in the heart
of a child
Editor's Notes
When talking of statistics “Parkinson disease affects 1 in 100 people over the age of 60, with the average age of onset being 60 years. It can also affect younger people. Young-onset Parkinson disease (onset at age 40 or younger) is estimated to occur in 5 – 10% of patients with PD”(Lieberman).
- Because the shut down of the functioning of the brain is so slow, it is very difficult to detect it at the beginning…