Spinal muscular atrophy (SMA) is a genetic disorder that attacks motor neurons, causing muscle weakness and wasting. It is caused by a deficiency of the SMN protein due to mutations in the SMN1 gene. There are several types of SMA classified by age of onset and highest physical milestone achieved. Treatment focuses on maintaining function, mobility, nutrition, and respiratory health to maximize quality of life. While there is no cure, ongoing research into new drugs and therapies provides hope for modifying the course of the disease.
FA is a very rare, genetic, recessive disease, affecting 1/50,000 people.
Originates from mutations in the “coding” of the mitochondria.
Discovered by Nicholaus Friedreich in the early 1860’s.
Both parents must have the dominant trait for a 25% chance of an offspring possessing the disease.
Not necessarily a disease that kills you, but eventually a wheelchair and regular assistance will be required.
Onset before age 20-25 year.
FA is a very rare, genetic, recessive disease, affecting 1/50,000 people.
Originates from mutations in the “coding” of the mitochondria.
Discovered by Nicholaus Friedreich in the early 1860’s.
Both parents must have the dominant trait for a 25% chance of an offspring possessing the disease.
Not necessarily a disease that kills you, but eventually a wheelchair and regular assistance will be required.
Onset before age 20-25 year.
Case Review #4: Adolescent Idiopathic Scoliosis with 61 degree curvatureRobert Pashman
A 22 year old female presented with Adolescent Idiopathic Scoliosis. She was braced as a child, and the curve continued to progress until she required surgical intervention.
Managing Respiratory Symptoms in Advanced MS - Practical by Rachael MosesMS Trust
Practical guide to managing respiratory symptoms in Advanced MS presented at the MS Trust Annual Conference 2016 buy Consultant Physiotherapist Rachael Moses
A Review on Spinal Muscular Atrophy Clinical Classification, Etiology, Diagno...ijtsrd
Spinal muscular atrophy SMA is an inherited, progressive neuromuscular disease that can cause weakness, degeneration of anterior horn cells, and muscle atrophy. It was first discovered in infants by physicians Guido Werdnig and Johan Hoffmann. SMA is mainly caused due to the mutation of the survival motor neuron 1 SMN1 . Based on phenotype it is classified into four grades of severity as SMA I, SMA II, SMA III and, SMA IV. SMA is diagnosed by Molecular genetic testing such as Multiplex Ligation Dependent Probe Amplification MLPA and real time polymerase chain reaction PCR laboratory examination includes creatine kinase dosage and electrophysiological tests such as electromyography EMG , and nerve conduction studies. Various drugs used for the treatment of SMA are Nusinersen, Risdiplam, Zolgensma, Reldesemtiv, and Combination therapy. Spinal muscular atrophy SMA Foundation and Pharmacy and therapeutic Committee PTC , have been conducting many clinical trials for a potential SMA treatment. Deborah Rose | Subhashini. A | Dr. K. C. Arul Prakasam | Aarthy. P | D. N. Ashritha "A Review on Spinal Muscular Atrophy: Clinical Classification, Etiology, Diagnosis and Treatment" Published in International Journal of Trend in Scientific Research and Development (ijtsrd), ISSN: 2456-6470, Volume-5 | Issue-6 , October 2021, URL: https://www.ijtsrd.com/papers/ijtsrd47658.pdf Paper URL : https://www.ijtsrd.com/pharmacy/other/47658/a-review-on-spinal-muscular-atrophy-clinical-classification-etiology-diagnosis-and-treatment/deborah-rose
These lecture slides, by Dr Sidra Arshad, offer a quick overview of 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 leads (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
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. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
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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
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.
- Video recording of this lecture in English language: https://youtu.be/lK81BzxMqdo
- Video recording of this lecture in Arabic language: https://youtu.be/Ve4P0COk9OI
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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.
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
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.
1. Spinal Muscular
Atrophy
Allelieh Javier Capistrano, RT
Pediatric Respiratory Therapist
Section of Pulmonary Medicine
Philippine Children’s Medical Center
2. What is SMA?
Spinal muscular atrophy (SMA) is a group of inherited
neuromuscular diseases that attack motor neurons,
which control the movement of voluntary muscles.
This disease causes anterior horn cells (lower motor
neurons) in the base of the brain and spinal cord to
gradually disintegrate.
The disorder causes weakness and wasting of the
voluntary muscles.
Weakness is often more severe in the legs than in the
arms.
3. What is SMA?
Loss of function of spinal motor neurons
causing progressive weakness of muscles
Muscles include extremities, respiratory
muscles
Sensation is normal
Brain function is
normal
http://kidshealth.org/parent/medical/bones/sma.html#
5. Types of SMA
Infantile progressive spinal
muscular atrophy (SMA Type 1)
Intermediate SMA (SMA Type 2)
Juvenile SMA (SMA Type 3)
Adult SMA (SMA Type 4)
SMARD1
Congenital SMA with
arthrogryposis
6. SMA Type 1
Also known as, Werdnig-Hoffmann acute infantile,
non-sitters, occur birth up to 6 months (95% by 3
months)
Severe, progressive muscle weakness and flaccid
or reduced muscle tone (hypotonia).
Bulbar dysfunction includes poor suck ability,
reduced swallowing, and respiratory failure.
Patients have no involvement of the extraocular
muscles, and facial weakness is often minimal or
absent.
They have no evidence of cerebral involvement,
and infants appear alert.
7. SMA Type 1
Impaired fetal movements are observed in 30% of cases
60% of infants with SMA type I are floppy babies at birth.
Prolonged cyanosis may be noted at delivery.
In some instances, the disease can cause fulminant
weakness in the first few days of life. Such severe
weakness and early bulbar dysfunction which has a
mean survival of 5.9 months.
Affected children never sit or stand.
In 95% of cases, infants die from complications of the
disease by 18 months.
8. SMA Type 2
SMA type II (intermediate SMA, sitters) usually begin
between 6 - 18 months.
Most common form of SMA
Most common manifestation is developmental motor delay.
Infants with SMA type II often have difficulties with sitting
independently or failure to stand by 1 year of age.
These children may learn to sit but will never be able to
stand or walk.
9. SMA type 2
An unusual feature of the disease is a postural tremor
affecting the fingers. This is thought to be related to
fasciculations in the skeletal muscles
Pseudohypertrophy of the gastrocnemius muscle,
musculoskeletal deformities, and respiratory failure can
occur.
The lifespan of patients with SMA type II varies from 2
years to the third decade of life. Respiratory infections
account for most deaths.
10. SMA Type 3
SMA type III (Kugelberg-Welander, chronic
juvenile, walkers) appear 18 months – adult.
Slowly progressive proximal weakness. Most can
stand and walk but have trouble with motor skills,
such as going up and down stairs.
Bulbar dysfunction occurs late in the disease.
11. SMA Type 3
Patients may show evidence of
pseudohypertrophy.
The disease progresses slowly, and the
overall course is mild. Many patients
have normal life expectancies.
12. SMA Type 4
is the adult form of the disorder. Most people affected
by this type start having symptoms after age 35, and
these symptoms slowly get worse over time. Because
it develops slowly, many people with type IV SMA
don't know that they have it until years after
symptoms begin.
13. Spinal Muscular Atrophy with Respiratory
Distress Type 1 (SMARD1)
In SMARD1, the predominating symptom is a severe
respiratory distress due to a paralysis of the diaphragm. Most
patients present show symptoms at the age of 1 to 6 months
with respiratory failure and progressive muscle weakness with
predominantly distal lower limb muscle involvement.
14. Spinal Muscular Atrophy with
Respiratory Distress Type 1
(SMARD1)
In SMARD1, the predominating symptom is a severe
respiratory distress due to a paralysis of the diaphragm.
Most patients present show symptoms at the age of 1 to
6 months with respiratory failure and progressive muscle
weakness with predominantly distal lower limb muscle
involvement.
15. Congenital SMA with arthrogryposis
Congenital SMA with arthrogryposis (persistent
contracture of joints with fixed abnormal posture of the
limb) is a rare disorder. Manifestations include severe
contractures, curvature of the spine, chest deformity,
respiratory problems, an unusually small jaw, and
drooping upper eyelids.
17. A Genetic Cause
SMA is usually inherited. This means that both parents
must have an altered (mutated) or missing copy of the
gene involved in the disorder for a child to develop it.
18. A Genetic Cause
Most cases of SMA are caused by a deficiency of a
special protein called SMN ("survival of motor neurons").
Motor neurons need this protein to function. The gene
that carries this protein is called SMN1. When each
parent passes onto their child a chromosome with a
mutated or missing SMN1 gene, the protein is not
produced and motor neurons die, leading to SMA.
19. A Genetic Cause
The genetic defects associated with SMA types I-III are localized on chromosome
5q11.2-13.3.
Mutations in the SMN gene result in a loss of function of the SMN protein.
20. Clinical Features (general for all types
of SMA)
Progressive degeneration and loss of the lower motor
neurons (anterior horn cells) in the spinal cord and
sometimes in the brainstem nuclei.
Results in muscle weakness and atrophy
The onset varies from before birth until adulthood
The weakness is symmetric and progressive
Contractures, usually mild
Anterior horn cell involvement, apparent due to tongue
fasciculations and absent deep tendon reflexes
Respiratory failure
Variable cranial nerve involvement: opthalmoplegia,
facial diplegia
22. Diagnosis
A diagnosis usually comes only after the child undergoes several
tests that rule out other diseases that cause similar symptoms.
These tests usually include:
nerve conduction tests, such as an electromyogram (EMG)
computed tomography (CT) scan
magnetic resonance imaging (MRI)
muscle tissue biopsy
23. Diagnosis
To confirm an SMA diagnosis, the doctor will usually recommend a
blood test to look at the child's genes. If the SMN1 gene is missing
or imperfect, it will confirm the diagnosis of SMA. The doctor might
also recommend that parents and other members be screened for
the disorder, even if they've never had any symptoms.
24. Treatment
Unfortunately, there is no cure for SMA. The treatment that children
receive for SMA varies, depending on their age and the severity of
symptoms. The goal of treatment is to relieve specific symptoms,
maintain function and enhance a child's mobility for as long as
possible, and maximize the child's independence and quality of life.
25.
26. Prevention and Maintenance
Today, much can be done for SMA patients in terms of medical and
in particular respiratory, nutritional and rehabilitation care. Physical
therapy and occupational therapy to promote and maintain motor skills.
Monitoring of respiratory function, ventilatory support.
27. Respiratory Support
Children with SMA commonly need help breathing when muscle
weakness begins to affect the respiratory muscles. Different
therapies can help a child breathe.
Oxygen therapy
Non-invasive positive pressure ventilation (NIPPV)
BiPAP
tracheostomy
28. Respiratory Support
A critical factor in respiratory care is preventing infection,
especially pneumonia. Pneumonia is common in children
with SMA and is life threatening.
30. Conventional Respiratory therapy
1. Oxygen administrated arbitrarily in concentrations that
maintain SaO2 well above 95%.
2. Frequent airway suctioning via the tube.
3. Supplemental oxygen increased when desaturations
occur.
4. Ventilator weaning attempted at the expense of
hypercapnia.
5. Extubation not attempted unless the patient appears
to be ventilator weaned.
31. Conventional Respiratory therapy
6. Extubation to CPAP or low span bi-level positive airway pressure
and continued oxygen therapy.
7. Deep airway suctioning by catheterizing the upper airway along
with postural drainage and chest physical therapy.
8. With increasing CO2 retention or hypoxia supplemental oxygen is
increased and ultimately the patient is reintubated.
9. Following re-intubation tracheostomy is thought to be the only
long-term option or following successful extubation bronchodilators
and ongoing routine chest physical therapy are used.
10. Eventually discharged home with a tracheostomy, often
following a rehabilitation stay for family training.
32. Protocol for SMA
1. Oxygen administration limited only to approach 95% SaO2.
2. Mechanical insufflation-exsufflation used via the tube at 25 to 40
cm H2O to -25 to -40 cm H2O pressures up to every 10 minutes as
needed to reverse oxyhemoglobin desaturations due to airway
mucus accumulation and when there is auscultatory evidence of
secretion accumulation. Abdominal thrusts are applied during
exsufflation. Tube and upper airway are suctioned following use of
expiratory aids as needed.
3. Expiratory aids used when desaturations occur.
4. Ventilator weaning attempted without permitting hypercapnia.
33. Protocol for SMA
5. Extubation attempted whether or not the patient is
ventilator weaned when meeting the following:
A. Afebrile
B. No supplemental oxygen requirement to maintain
SaO2 >94%
C. Chest radiograph abnormalities cleared or clearing
D. Any respiratory depressants discontinued
E. Airway suctioning required less than 1-2x/eight
hours
34. Nutritional Support
SMA can affect the muscles used for chewing, sucking,
and swallowing. This can cause a child to become
malnourished or develop pneumonia if the child inhales
food or liquids while eating. Some children do better by
eating small, frequent meals throughout the day instead
of having three large meals.
Some children with SMA are at risk for obesity if they
consume too many calories for their activity levels and
they can't exercise to effectively burn the calories.
Ongoing consultation with a nutritionist is necessary to
ensure adequate nutrition that doesn't overload a child
with unnecessary calories.
35. Nutritional Support
Children who can't swallow or suck must be fed in
another way to ensure that they're receiving enough
nutrition. Sometimes, they have a tube inserted into the
stomach to help them eat. Through this tube, called a
gastrostomy tube, they can receive a nutritionally sound
liquid diet.
37. Function and Mobility
Many children with SMA benefit greatly from physical
and occupational therapies, which help to maintain
function and mobility and enhance quality of life for as
long as possible. In some cases, tools can help make
these tasks easier, such as:
leg braces, standing frames, canes, and walkers, which provide
stability and improve mobility
electric wheelchairs with customized controls
specialized seats to use in school
tools for using computers and phones and controlling other
home electronics, such as the TVs and lights
tools to aid educational activities, such as writing and drawing
38. Spinal Deformity
Children who develop spinal deformities need to wear a
splint, brace, or corset to straighten their backs as
toddlers or adolescents. Sometimes, surgery (called a
spinal fusion) is done to correct the spinal deformity in
children who are done growing and whose respiratory
systems can tolerate sedation with anesthesia.
39. Outlook
Scientists who are researching SMA have made
dramatic breakthroughs in the past few years, including
identifying the genes and the protein associated with the
disorder.
Research is now focused on finding drugs and other
therapies that can help to keep motor neurons
functioning as long as possible, enhance muscle tone
and function, and even modify gene function. Many
scientists are optimistic that ongoing research will lead to
better treatment of SMA.
40. My References
Web references
1. http://www.ninds.nih.gov/news_and_events/news_articles/sensory-
motor_synapses_lost_in_SMA.htm
2. http://en.wikipedia.org/wiki/Spinal_muscular_atrophy
3. http://www.fsma.org/
4. http://healthfinder.gov/FindServices/Organizations/Organization/HR2292/families-of-spinal-
muscular-atrophy
5. http://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling/Spinal_Muscular_Atrophy_(SMA1
)
Guidelines/books
1. Guide to the Evaluation and Management of Patients with Neuromuscular Disease by Dr John
Bach (2004)
2. Facts about Spinal Muscular Atrophy. Muscular Dystrophy Association
3. Handbook of Genetic Counseling