This document provides information on Down syndrome, including its definition, types, epidemiology, risk factors, clinical features, complications, diagnosis, treatment, counseling, follow-up, and prevention. It defines Down syndrome as a genetic disorder caused by the presence of an extra chromosome 21. It describes the three main types and their characteristics. The document outlines the clinical exam findings, developmental delays, and medical issues associated with Down syndrome. It provides details on testing, multidisciplinary care, education supports, and lifelong management of the condition.
Pediatrics. trisomy 21. Meiotic non-disjunction of chromosome 21. clinical features and associated abnormalities of down syndrome. screening test for down syndrome. counseling for parents in down syndrome.
The presentation deals with rett syndrome, a neorological disorder of child hood. It gives an idea on the symptoms shown, the diagnostic procedures, and the treatment given
Pediatrics. trisomy 21. Meiotic non-disjunction of chromosome 21. clinical features and associated abnormalities of down syndrome. screening test for down syndrome. counseling for parents in down syndrome.
The presentation deals with rett syndrome, a neorological disorder of child hood. It gives an idea on the symptoms shown, the diagnostic procedures, and the treatment given
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
Rasamanikya is a excellent preparation in the field of Rasashastra, it is used in various Kushtha Roga, Shwasa, Vicharchika, Bhagandara, Vatarakta, and Phiranga Roga. In this article Preparation& Comparative analytical profile for both Formulationon i.e Rasamanikya prepared by Kushmanda swarasa & Churnodhaka Shodita Haratala. The study aims to provide insights into the comparative efficacy and analytical aspects of these formulations for enhanced therapeutic outcomes.
- Video recording of this lecture in English language: https://youtu.be/kqbnxVAZs-0
- Video recording of this lecture in Arabic language: https://youtu.be/SINlygW1Mpc
- Link to download the book free: https://nephrotube.blogspot.com/p/nephrotube-nephrology-books.html
- Link to NephroTube website: www.NephroTube.com
- Link to NephroTube social media accounts: https://nephrotube.blogspot.com/p/join-nephrotube-on-social-media.html
Adv. biopharm. APPLICATION OF PHARMACOKINETICS : TARGETED DRUG DELIVERY SYSTEMSAkankshaAshtankar
MIP 201T & MPH 202T
ADVANCED BIOPHARMACEUTICS & PHARMACOKINETICS : UNIT 5
APPLICATION OF PHARMACOKINETICS : TARGETED DRUG DELIVERY SYSTEMS By - AKANKSHA ASHTANKAR
micro teaching on communication m.sc nursing.pdfAnurag Sharma
Microteaching is a unique model of practice teaching. It is a viable instrument for the. desired change in the teaching behavior or the behavior potential which, in specified types of real. classroom situations, tends to facilitate the achievement of specified types of objectives.
Basavarajeeyam is a Sreshta Sangraha grantha (Compiled book ), written by Neelkanta kotturu Basavaraja Virachita. It contains 25 Prakaranas, First 24 Chapters related to Rogas& 25th to Rasadravyas.
Muktapishti is a traditional Ayurvedic preparation made from Shoditha Mukta (Purified Pearl), is believed to help regulate thyroid function and reduce symptoms of hyperthyroidism due to its cooling and balancing properties. Clinical evidence on its efficacy remains limited, necessitating further research to validate its therapeutic benefits.
Local Advanced Lung Cancer: Artificial Intelligence, Synergetics, Complex Sys...Oleg Kshivets
Overall life span (LS) was 1671.7±1721.6 days and cumulative 5YS reached 62.4%, 10 years – 50.4%, 20 years – 44.6%. 94 LCP lived more than 5 years without cancer (LS=2958.6±1723.6 days), 22 – more than 10 years (LS=5571±1841.8 days). 67 LCP died because of LC (LS=471.9±344 days). AT significantly improved 5YS (68% vs. 53.7%) (P=0.028 by log-rank test). Cox modeling displayed that 5YS of LCP significantly depended on: N0-N12, T3-4, blood cell circuit, cell ratio factors (ratio between cancer cells-CC and blood cells subpopulations), LC cell dynamics, recalcification time, heparin tolerance, prothrombin index, protein, AT, procedure type (P=0.000-0.031). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and N0-12 (rank=1), thrombocytes/CC (rank=2), segmented neutrophils/CC (3), eosinophils/CC (4), erythrocytes/CC (5), healthy cells/CC (6), lymphocytes/CC (7), stick neutrophils/CC (8), leucocytes/CC (9), monocytes/CC (10). Correct prediction of 5YS was 100% by neural networks computing (error=0.000; area under ROC curve=1.0).
These lecture slides, by Dr Sidra Arshad, offer a quick overview of the physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar lead (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
6. Describe the flow of current around the heart during the cardiac cycle
7. Discuss the placement and polarity of the leads of electrocardiograph
8. Describe the normal electrocardiograms recorded from the limb leads and explain the physiological basis of the different records that are obtained
9. Define mean electrical vector (axis) of the heart and give the normal range
10. Define the mean QRS vector
11. Describe the axes of leads (hexagonal reference system)
12. Comprehend the vectorial analysis of the normal ECG
13. Determine the mean electrical axis of the ventricular QRS and appreciate the mean axis deviation
14. Explain the concepts of current of injury, J point, and their significance
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. Chapter 3, Cardiology Explained, https://www.ncbi.nlm.nih.gov/books/NBK2214/
7. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
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.
These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
Here is the updated list of Top Best Ayurvedic medicine for Gas and Indigestion and those are Gas-O-Go Syp for Dyspepsia | Lavizyme Syrup for Acidity | Yumzyme Hepatoprotective Capsules etc
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
Integrating Ayurveda into Parkinson’s Management: A Holistic ApproachAyurveda ForAll
Explore the benefits of combining Ayurveda with conventional Parkinson's treatments. Learn how a holistic approach can manage symptoms, enhance well-being, and balance body energies. Discover the steps to safely integrate Ayurvedic practices into your Parkinson’s care plan, including expert guidance on diet, herbal remedies, and lifestyle modifications.
2. Learning Objectives
By the end of this session, a student is
expected to learn the following;
–Definition and types of Down syndrome
–Explain aetiology/risk factors Down syndrome
–Outline epidemiology of Down syndrome
–Explain clinical features of Down syndrome
–Establish diagnosis/ provisional and
differential diagnosis of Down syndrome
3. Learning Objectives cont...
–Provide pre-referral treatment of Down
syndrome
–Provide appropriate supportive care for Down
syndrome
–Provide counselling and follow-up services of
Down syndrome
4.
5. Definition of Down syndrome
Is a genetic disorder caused by the presence
of all or part of a third copy of chromosome
21{Is a condition in which a person has an
extra chromosome} Also called Trisomy 21
OR
Is a genetic disorder caused when abnormal
cell division results in an extra full or partial
copy of chromosome 21
6.
7. Types of Down Syndrome
1. Full Trisomy 21 Down syndrome
Trisomy 21 means there’s an extra copy of
chromosome 21 in every cell making a
total number of 47 instead of 46. This is
the most common form of Down
syndrome.
Accounts 94% of all Down Syndrome
cases
Can not be inherited and female cases are
fertile
8. Types of Down Syndrome cont…
2. Mosaicism Down syndrome
Mosaicism occurs when a child is born with
an extra chromosome in some but not all of
their cells. People with mosaic Down
syndrome tend to have fewer symptoms
than those with trisomy 21.
Accounts 2.4% of all Down Syndrome
cases
Can not be inherited, male cases are fertile
9. Types of Down Syndrome cont…
3. Translocation Down syndrome
In this type of Down syndrome, children
have only an extra part of chromosome 21.
There are 46 total chromosomes.
However, one of them has an extra
piece of chromosome 21 attached.
Accounts 3.3% of all Down Syndrome
cases
Can be inherited, cases are infertile
10. Epidemiology of Down
Syndrome
• It is the cause of 8% of all congenital disorders.
Each year, approximately 6000 children are born
with down syndrome.
• Down syndrome accounts for about 33.3% of all
moderate and severe mental handicaps in school -
aged children.
• Globally, as of 2010, Down syndrome results in
about 17,000 deaths. The prevalence of Down
syndrome worldwide has increased because of
increases in life span in the last few decades
11. Aetiology of Down Syndrome
Down syndrome is caused by three cytogenetic
variants namely;
1. Results from non disjunction during meiosis
in one of the parents - full trisomy 21 type.
2. Chromosomal translocation – part of
chromosome 21 attach to another chromosome.
3. Mosaicism – Most cases result from a trisomic
zygotic with mitotic loss of one chromosome.
12. Risk Factors of Down Syndrome
Advancing maternal age
A woman's chances of giving birth to a child
with Down syndrome increase with age
because older eggs have a greater risk of
improper chromosome division
A woman's risk of conceiving a child with
Down syndrome increases after 35 years of
age
However, most children with Down syndrome
are born to women under age 35 because
younger women have far more babies
13. Risk Factors of Down Syndrome
cont…
95% is due to maternal disjunction and 5%
from paternal disjunction
Being carriers of the genetic
translocation for Down syndrome
Having had one child with Down
syndrome
14. Pathogenesis of Down
Syndrome
• All cells in the body contain genes that are
grouped along chromosomes in the cell nucleus.
• There are normally 46 chromosomes in each
cell - 23 inherited from the mother and 23 from
the father
• When some or all of a person’s cells have an
extra full or partial copy of chromosome 21,
Down syndrome occurs
– This extra chromosome causes problems as
the brain and physical features develop
15. Clinical Features of Down
Syndrome
– Flat occiput and a Flattened facial
appearance
– Small brachycephalic head
– Epicanthal folds
– Short neck
– Protruding tongue
– Upward slanting eye lids (palpebral fissures)
– Unusually shaped or small ears
– Poor muscle tone (Neuromuscular Hypotonia)
– Short height
16. Clinical Features of Down
Syndrome cont…
– Broad, short hands with a single crease in the
palm
– Relatively short fingers and small hands and
feet
– Joint hyper flexibility and hyper extensibility
– Tiny white spots on the colored part (iris) of
the eye called Brush field's spots
– Deviated foot toes (wide space between first
and second toes) – sandal gap
– Small nose and Flat nasal bridge
– Protruding tongue
17. Clinical Features of Down
Syndrome cont…
• Children with Down syndrome often reach
developmental milestones a little later than their
peers
– For example, there may be a delay in learning
to talk. A child may need speech therapy to
help them gain expressive language
• Fine motor skills may also be delayed. They can
take time to develop after the child acquires
gross motor skills
– On average, a child with Down syndrome will:
sit at 11 months, crawl at 17 months and walk
at 26 months
18. Clinical Features of Down
Syndrome cont…
• There may also be problems with
attention, a tendency to make poor
judgments, and impulsive behavior.
• Have mild to moderate cognitive
impairment
• Language is delayed
• Short and long-term memory is affected
19.
20.
21.
22.
23.
24. Complications of Down
Syndrome
– Heart defects (50%) e.g. atrioventricular septal
defect or ventricular septal defect, tetralogy of
Fallot and patent ductus arteriosus
– Gastrointestinal (GI) defects; such as
Duodenal atresia, Gastroesophageal reflux
disease, pyrolic stenosis, Hirschsprung’s
disease, Meckel’s diverticulum Anorectal
malformations - Imperforate anus or celiac
disease
– Sleep apnea; greater risk of obstructive sleep
apnea follows soft tissue and skeletal changes
that lead to the obstruction of
25.
26. Complications of Down Syndrome
cont…
– Immune disorders; abnormalities in immune
systems, poses increased risk of developing
autoimmune disorders, some forms of cancer
and infectious diseases, such as pneumonia
– Neoplasms; acute lymphoblastic leukemia and
the acute myeloid leukemia (acute
megakaryoblastic leukemia), testicular germ cell
cancer
– Dementia; signs and symptoms may begin
around age 50. Having Down syndrome also
increases the risk of developing Alzheimer's
disease
27. Complications of Down
Syndrome cont…
– Endocrine disease - congenital
hypothyroidism, Graves' disease/autoimmune
hypothyroidism, Type 1 diabetes mellitus
– Dental problems - gingivitis as well as early,
severe periodontal disease, necrotizing
ulcerative gingivitis, and early tooth loss
– Infertility – especially males
– Obesity
28. Complications of Down
Syndrome cont…
– Spinal problems. misalignment of the top two
vertebrae in the neck (atlantoaxial instability)
increases likelihood of serious injury to the
spinal cord from overextension of the neck
– Neurological – Epileptic seizures, Anxiety,
depression, hearing and vision problems and
autism
– Respiratory infections - Pneumonia, Ear
infections
30. Investigations of Down Syndrome
• Diagnostic tests for Down syndrome
– Perinatal screening – alpha fetoprotein and genetic
testing/karyotyping/chorionic villus sampling/nuchal
translucency test/amniocentesis
• Diagnostic tests for associated defects
– ECHO and ECG
– Abdominal pelvic ultrasound; Cranial USS
– Chest X – ray; Brain CT scan and/or MRI; EEG
• Routine tests
– Full blood picture; CRP/ESR
31. Treatment Plans of Down
Syndrome
• Supportive;
– a wide range of support and educational
programs that help both children with the Down
syndrome and their families exist.
– Collaboration from different disciplines is
necessary as there’s no one-size-fits-all
approach to treatment
– A team of providers include pediatrician, ENT
specialist, cardiologist, social workers and
others depending on complications present. e.g.
child may need help in crawling and walking to
talking and learning how to be social
32. Treatment plans of Down
syndrome cont…
• Physical occupational, and speech therapists
are all important
• Children with specific learning and development
difficulties may be eligible for educational
support, either in a mainstream or specialized
school
• In recent years, the tendency has been to attend
mainstream schools, often with additional
support to help them integrate and progress
• Some children will make use of an Individualized
Education Program (IEP), which various
specialists will support
• Pediatrician for check childhood care provision
33. • Pediatric cardiologist check for congenital
heart disease
• Pediatric gastroenterologist
• Pediatric endocrinologist
• Development pediatrician
• Pediatric neurologist
• Pediatric ENT
• Audiologist
36. Counselling
• About the disease and its associated
conditions
• Adequate feeding
• Attend paediatric clinics for early detection
of syndrome related complication
• Genetic counseling
38. Prognosis of Down
Syndrome
• Variable depending on the associated
complications
– ~75% of conception with trisomy 21 die in utero
– ~25-30% die in before 1st birthday; mainly from
bronchopneumonia and CHDs
– Some grow and live almost entirely on their own,
while others will need more help taking care of
themselves
– early right care makes a big difference in helping
such clients live a full and meaningful life
39. Prevention of Down Syndrome
• Primary:
– not preventable directly; however may reduce a risk
factor of giving birth at advanced age, genetic
counseling of reducing number of pregnancies in a
family that already have a child with Down
syndrome or a family history of the same
• Secondary: Early diagnosis (surveillance,
screening and testing) and multidisciplinary
approach of Down syndrome
• Tertiary: Management of evolving diseases and
complications of Down syndrome
40. Key Points
• Down syndrome is a genetic disorder. It
includes certain birth defects, learning
problems, and facial features. A child with
Down syndrome also may have heart defects
and problems with vision and hearing.
• A mother’s age at her child’s birth is the only
factor linked to the risk of having a baby with
Down syndrome. This risk increases with
each year of age, especially after age 35.
41. Key Points cont…
• Down syndrome can often be diagnosed before
birth. After birth, your baby may be diagnosed
with a physical exam. The healthcare provider
may also take a blood sample
• There is no cure for Down syndrome, but
treatment is available to help your child
• A child may need physical, occupational, and
speech therapy to help with his or her
development. Many children are helped with
early intervention and special education
42. Evaluation
1. A 4-year-old child presents with history of
delayed developmental skills and she was
born to a 55 year mom. The history of
colostomy at the 4th day of extra uterine life
was remarkable. On examination: had flat
occiput with protruded tongue. Describe
the management of this child based on
diagnosis and definition, differential
diagnosis, investigations, treatment,
and follow – up.
43. References
• Tanzania standard treatment guidelines and
essential medicines list for children and
adolescents - First Edition October 2017
•
• Sathy (2005) Practical Paediatrics
2ndEd,PublisherElsevier,a division of Elsevier India
private LTD-New Delhi-INDIA
• Coovadia H.M,(1999) Paediatric & Child Health a
Manual for Health Professionals in the third World.
• Nelson Textbook of Paediatrics – 19th Edition