This document discusses newborn screening in India. It notes that while individually rare metabolic disorders are not uncommon collectively, occurring in approximately 1 in 1000 newborns. However, India currently lacks a nationwide newborn screening program. The document outlines the components and goals of newborn screening programs, including early detection to prevent morbidity and mortality. It provides guidance on disease selection, sample collection from heel pricks onto filter paper, and conditions in India that could be included in basic and expanded newborn screening programs.
Newborn Screening | Infant Care | Health Care | Baby's First Testjohndemello7
Baby's First Test is the nation's newborn screening education center for parents, health professionals, and the public on the newborn screening system.
Visit http://www.babysfirsttest.org/
Newborn Screening | Infant Care | Health Care | Baby's First Testjohndemello7
Baby's First Test is the nation's newborn screening education center for parents, health professionals, and the public on the newborn screening system.
Visit http://www.babysfirsttest.org/
In collaboration with the New England Regional Genetics Network, the Weitzman Institute aims to improve access to genetics services for underserved populations by offering primary care provider educational support through a free five-part webinar series that aims to enhance provider knowledge, practice, and attitudes regarding genetic services.
The importance of screening newborn babies for birth defectsmeenakshiclinic
Screenings of newborn babies are designed to pursue early recognition of certain disorders with an aim to prevent serious consequences in the future. However, it is important to know that these screenings are not necessarily confirmatory diagnosis and may demand further investigations.
Answering your questions about genetics and your health | Genes in Lifejohndemello7
Genes in Life provides answer to your questions about genetics and health. It is the place where you learn the importance and effects of genetics on human life.
Visit http://genesinlife.org/ .
Screening for any disorder in individuals is a strategy used for identifying a disease before the onset of signs or symptoms, thus enabling earlier detection and management with the aim to reduce morbidity and mortality.
In collaboration with the New England Regional Genetics Network, the Weitzman Institute aims to improve access to genetics services for underserved populations by offering primary care provider educational support through a free five-part webinar series that aims to enhance provider knowledge, practice, and attitudes regarding genetic services.
The importance of screening newborn babies for birth defectsmeenakshiclinic
Screenings of newborn babies are designed to pursue early recognition of certain disorders with an aim to prevent serious consequences in the future. However, it is important to know that these screenings are not necessarily confirmatory diagnosis and may demand further investigations.
Answering your questions about genetics and your health | Genes in Lifejohndemello7
Genes in Life provides answer to your questions about genetics and health. It is the place where you learn the importance and effects of genetics on human life.
Visit http://genesinlife.org/ .
Screening for any disorder in individuals is a strategy used for identifying a disease before the onset of signs or symptoms, thus enabling earlier detection and management with the aim to reduce morbidity and mortality.
Interesting Update on Recurrent Miscarriage for Indian Gynaecologoists D...Lifecare Centre
OUTLINE….of RM
* KNOWN KNOWNWhat we know & we DO: **KNOWN UNKNOWNWhat we know but do not do: ***UNKNOWN KNOWNWhat we know that we do not know ****UNKNOWN UNKNOWNTOTALLY NEW .. Future
Neonatal and Pediatric Critical Care - Mostafa QalavandWang Lang
Neonatal and pediatric critical care is markedly different from adult critical care because of the physiologic and hemodynamic dissimilarities between immature and adult animals. Clinicians are often wary of treating these patients because of their small size and the presumptive limitations in diagnostic and therapeutic interventions. Nevertheless, we have the ability to treat these young animals aggressively. In doing so, however, we must be cognizant of the unique distinctions among pediatric patients with regard to normal physiologic variables that affect physical examination findings and diagnostic test results.
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!
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
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
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
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
ASA GUIDELINE
NYSORA Guideline
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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.
NVBDCP.pptx Nation vector borne disease control programSapna Thakur
NVBDCP was launched in 2003-2004 . Vector-Borne Disease: Disease that results from an infection transmitted to humans and other animals by blood-feeding arthropods, such as mosquitoes, ticks, and fleas. Examples of vector-borne diseases include Dengue fever, West Nile Virus, Lyme disease, and malaria.
1. Prof. Dr J P Soni
Dr S N Medical college; JODHPUR
INDIA
50th
2
0
1
3
NEW BORN
SCREENING
Newborn Screening
2. Every couple & family wants after
birth
Baby should remain Healthy
3. Four millions are born with congenital problems
140 MILLION CHILDERN ARE BORN
EVERY YEAR
25-30% are expected to have Inborn Error of Metabolism
1: 1350
5-15% of all sick newborn In NICU expected to have
Transient or permanent IEM
4. Inborn errors of
metabolism
Definition:
Inborn errors of
metabolism is a rare group of
recessive genetic disorders in
which the body cannot
metabolize food components
normally. These disorders are
usually caused by defects in the
enzymes involved in the
biochemical pathways that break
down food components.
5. Prior to delivery, “A Fetus” is
usually "protected" from any
ill-effects of a
metabolic disease
either by the
Maternal circulation which
provide missing product
or
Placenta which remove toxic
substances.
6. Inborn Errors of Small molecule Metabolism
Example: Galactosemia
I E M - Large molecule : Lysosomal storage
diseases
Example: Gaucher's Disease
Disorders of Energy Metabolism
Example Glycogen Storage Disease
Other more rare classes of metabolism error
Peroxisomal disorders
Transport disorders
Defects in purine and pyrimidine
metabolism & Receptor Defects
IEM Classification:
7. Population : 1220 million
Birth rate 20.6/1000
Every day 30,000 babies are born
Incidence of neonatal disorder is approximately 1:1000
Thus every day 30 newborns are born with
Different Neonatal disorders
8. Population ; 1220 million
Birth rate 20.6/1000
Congenital Hypothyroidism (1965) - 1: 1700
Every year 15000 neonates are born with it
Every day 30.000 babies are born
Every day 1 new born / 1000 is born with neonatal disorder
Every day 30 newborns are born with neonatal disorders
9. Population ; 1220 million
Birth rate 20.6/1000
G-6PD(Glucose 6 phosphate deficiency ) : 1: 2200,
3.5 lacs; Male 28.3%; Female : 1.05%
INDIA
10. Population ; 1220 million
Birth rate 20.6/1000
Congenital Adrenal Hyperplasia(1990) : 1: 2575
INDIA
11. Population ; 1220 million
Birth rate 20.6/1000
Cystic Fibrosis(1995) :1:10000 – 1: 40000
INDIA
12. Population ; 1220 million
Birth rate 20.6/1000
PKU (Phenylketonuria) : 1: 18300
INDIA
13. Population ; 1220 million
Birth rate 20.6/1000
Biotinidase deficiency(1990) :
INDIA
14. Population ; 1220 million
Birth rate 20.6/1000
Galactosemia: 1: 10300
INDIA
15. Population ; 1220 million
Birth rate 20.6/1000
Mapple syp urine disease : 1: 10215
INDIA
16. Population ; 1220 million
Birth rate 20.6/1000
Tyrosinemia : 1: 6234
INDIA
17. Population ; 1220 million
Birth rate 20.6/1000
down syndrome: 20,000
INDIA
18. Population ; 1220 million
Birth rate 20.6/1000
Thalassemia : 14,000
INDIA
19. Population ; 1220 million
Birth rate 20.6/1000
Sickle cell anemia: 5,000
INDIA
20. Individually these diseases are very rare, but when all are
clubbed together they are not very uncommon.
Incidence is approximately 1: 1000 newborn
Even then our country do not have national wide any
new born preventive program
INDIA
50th
2
0
1
3
NEW BORN
SCREENING
21. Q. What types of
screening do we have
for such patients ?
22. 1. Prenatal Diagnostic screening – is type of
primary prevention for At risk fetus.
2. New born screening – is type of secondary
Prevention for Pre-symptomatic newborns
3. High risk screening – symptomatic new borns
4. Postmortem screening – Metabolic Autopsy
23. is type of secondary
Prevention for Pre-symptomatic newborns
25. Ans:
Newborn screening program was started in the
United States in the early 1960s, and since than
it has been expanded to countries around the
world.
On April 24, 2008, President George W. Bush
signed into law the Newborn Screening Saves
Lives Act of 2007
27. Components of NBS
1. Education:
Professionals, parents and policy makers
2. Screening:
Collection activities, Specimen delivery,
Laboratory testing and Result reporting
3. Early Follow-up:
4. Diagnosis:
5. Management:
Medical mgt, Long term follow-up, Specimen
mgt
6. Evaluation:
29. Most newborn screening tests are done by measuring
metabolites and enzyme activity in whole blood samples
collected on specialized filter paper
Hearing loss using automated auditory brainstem response.
Congenital heart defects using pulse oximetry
Congenital hypothyroidism and congenital adrenal hyperplasia
Immunoassays measure .
Cystic fibrosis and severe combined immunodeficiency -
Molecular techniques -.
Infants who are screen positive undergo further testing to
determine if they are truly affected with a disease or if the test
result is falsly positive.
30. Ans:
NBS is an essential public health program
To
Screen New Born Babies for
Metabolic disorders
Genetic diseases
Blood diseases
Nongenetic – Toxoplasmosis etc.
32. Ans:
The Goal of NBS is –
Timely detection of disorders - that is during
neonatal period
To Prevent morbidity, mortility & disability
(mental retardation or a lifelong impairment).
By
Early detection
Complex system of Diagnosis
Complexity of Treatment
34. Ans: All New Born Babies should be given
Opportunity for New Born Screening .
As all babies looks Normal at birth.
There is variable window period before baby
Develops overt clinical picture of disease after
birth.
Thus one can diagnosing & treat the
disease before obvious clinical manifestation by NBS.
Thus baby with IEM will not develop
catastrophic consequences and complications.
36. Ans:
The condition sought should be an important health problem
There should be an accepted treatment for patients with recognized
disease.
Facilities for diagnosis and treatment should be available
There should be a recognizable latent or early symptomatic stage
There should be a suitable test or examination
Newborn screening programs initially used
screening criteria based largely on criteria
established by JMG Wilson and F. Jungner in 1968
37. Ans :
The test should be acceptable to the population
The natural history of the condition, including development from
latent to declared disease, should be adequately understood
There should be an agreed policy on whom to treat as patients
The cost of case-finding (including diagnosis and treatment of patients
diagnosed) should be economically balanced in relation to possible
expenditure on medical care as a whole
Case-finding should be a continuing process and not a “once and for
all” project.
39. Ans . Basics of Newborn Screening program
vary from country to country -
India core screening should include test for
diagnosis of
Congenital Hypothyroidism Cong.
Adrenal Hyperplasia
G6PD. Cystic fibrosis, Sickle cell anemia
Biotinidase
41. Ans : Disease under expanded NBS are
diagnosed either by
MS/MS
Tandem mass spectrometry
Like : aminoacidopaties, organic acidemia &
disorder of fatty acid oxidation.
43. Ans :
For congenital Hypothyroidism Cord blood can
be collected
For NBS blood should be collected before discharge
Between 72 hours to 7 days, When baby had at least
6-8 times adequate breast feeding.
Metabolism of neonate needs 4-5 days for liver to
function independently, to give true picture of
neonatal marker.
45. Specimen Collection: Dried Blood Spots
•Do not touch any of the filter paper circle before or after collection.
•Select puncture site and cleanse with 70% isopropanol.
•Use a sterile, disposable lancet with 2.0 mm, or less, point
•Wipe away first blood drop.
•Use second LARGE blood drop to apply to surface of FDA-approved filter
paper circle.
•If not completely filled, add a second LARGE drop immediately.
•FILL all required circles completely. FILL from only one side of the filter
paper.
•Dry specimen at room temperature 3-4 hours in HORIZONTAL position.
•See NCCLS LA4-A3, 1997. Blood collection on filter paper for neonatal
screening programs; Approved standard.
46. Ans : Blood should be collected from Heel prick
on filter paper with following properties-
Filter paper should be Homogenous
Filter paper should absorb 100ul blood in 12 sec &
Produce circle of 12 mm diameter.
48. Variables Affecting Measurements for
Specimens Collected on Filter Paper
Handling and storage of paper
Humidity condition of paper
Volume of blood collected
Haematocrit level of blood donor
Absorption time for blood
50. Ans : Blood should be collected from Heel prick
on one side of filter paper.
Blood should be dried at room temperature.
Blood should not be collected in layers on paper.
Venous blood & syringe should be avoided.
Discard first drop of blood.
Cord blood should be avoided as it is contaminated
with maternal blood
52. Unsatisfactory Specimens
Clotted or Layered
Serum Rings
Specimen Not Dried Before Mailing
Supersaturated
No Blood
Diluted, Discolored, or Contaminated
Scratched or Abraded
Quantity Insufficient for Testing
53. Q. Which new born disorders should
be screened in India ?
54. Ans : for Our country new born screening is
divided into three groups
Group A : All new borns should be screen for
Cong. Hypo-thyrodism
Cong. Adrenal Hyperplasia
G 6-PD
Group B: Screening in the high risk population-
If history of MR, Seizure disorders, Critically ill
new born or SIDS – IEM and consanguinity