The document discusses neuromuscular diseases. It defines the motor unit and its components. Some key neuromuscular diseases discussed include muscular dystrophies, congenital and metabolic myopathies, anterior horn cell disorders, and neuromuscular junction diseases. Common symptoms of neuromuscular diseases are then outlined. Diagnostic tests and treatment approaches are also summarized for several specific conditions like spinal muscular atrophy, Guillain-Barré syndrome, and myasthenia gravis.
This presentation contains detailed knowledge about Down's Syndrome its types, clinical presentation, diagnosis, medical and physio therapeutic management of the condition.
Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.
In this slideshow, we covered most of neuromuscular disorders which might face you in medicine in general and in pediatrics in particular.
We hope if you find this slideshow helpful for your seeking of this subject.
Cheers,
This presentation contains detailed knowledge about Down's Syndrome its types, clinical presentation, diagnosis, medical and physio therapeutic management of the condition.
Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.
In this slideshow, we covered most of neuromuscular disorders which might face you in medicine in general and in pediatrics in particular.
We hope if you find this slideshow helpful for your seeking of this subject.
Cheers,
Overview of Dysphagia and the role of Speech Pathologists in assessment and management of swallowing problems; particularly as seen in aged care populations.
La presentazione mostra alcuni particolari muscoli coinvolti in azioni specifiche. Inoltre vi è indicata l'origine, l'inserzione e l'azione che svolge quel particolare muscolo.
Guillain-Barré syndrome (GBS) can be described as a collection of clinical syndromes that manifests as an acute inflammatory polyradiculoneuropathy with resultant weakness and diminished reflexes.
Although the classic description of GBS is that of a demyelinating neuropathy with ascending weakness, many clinical variants have been well documented in the medical literature.
This ppt nots specially for physiotherapy students this is for study purpose if you need this kind of short and brief study material keep following my website.. Education adda
Nutraceutical market, scope and growth: Herbal drug technologyLokesh Patil
As consumer awareness of health and wellness rises, the nutraceutical market—which includes goods like functional meals, drinks, and dietary supplements that provide health advantages beyond basic nutrition—is growing significantly. As healthcare expenses rise, the population ages, and people want natural and preventative health solutions more and more, this industry is increasing quickly. Further driving market expansion are product formulation innovations and the use of cutting-edge technology for customized nutrition. With its worldwide reach, the nutraceutical industry is expected to keep growing and provide significant chances for research and investment in a number of categories, including vitamins, minerals, probiotics, and herbal supplements.
Observation of Io’s Resurfacing via Plume Deposition Using Ground-based Adapt...Sérgio Sacani
Since volcanic activity was first discovered on Io from Voyager images in 1979, changes
on Io’s surface have been monitored from both spacecraft and ground-based telescopes.
Here, we present the highest spatial resolution images of Io ever obtained from a groundbased telescope. These images, acquired by the SHARK-VIS instrument on the Large
Binocular Telescope, show evidence of a major resurfacing event on Io’s trailing hemisphere. When compared to the most recent spacecraft images, the SHARK-VIS images
show that a plume deposit from a powerful eruption at Pillan Patera has covered part
of the long-lived Pele plume deposit. Although this type of resurfacing event may be common on Io, few have been detected due to the rarity of spacecraft visits and the previously low spatial resolution available from Earth-based telescopes. The SHARK-VIS instrument ushers in a new era of high resolution imaging of Io’s surface using adaptive
optics at visible wavelengths.
Professional air quality monitoring systems provide immediate, on-site data for analysis, compliance, and decision-making.
Monitor common gases, weather parameters, particulates.
The increased availability of biomedical data, particularly in the public domain, offers the opportunity to better understand human health and to develop effective therapeutics for a wide range of unmet medical needs. However, data scientists remain stymied by the fact that data remain hard to find and to productively reuse because data and their metadata i) are wholly inaccessible, ii) are in non-standard or incompatible representations, iii) do not conform to community standards, and iv) have unclear or highly restricted terms and conditions that preclude legitimate reuse. These limitations require a rethink on data can be made machine and AI-ready - the key motivation behind the FAIR Guiding Principles. Concurrently, while recent efforts have explored the use of deep learning to fuse disparate data into predictive models for a wide range of biomedical applications, these models often fail even when the correct answer is already known, and fail to explain individual predictions in terms that data scientists can appreciate. These limitations suggest that new methods to produce practical artificial intelligence are still needed.
In this talk, I will discuss our work in (1) building an integrative knowledge infrastructure to prepare FAIR and "AI-ready" data and services along with (2) neurosymbolic AI methods to improve the quality of predictions and to generate plausible explanations. Attention is given to standards, platforms, and methods to wrangle knowledge into simple, but effective semantic and latent representations, and to make these available into standards-compliant and discoverable interfaces that can be used in model building, validation, and explanation. Our work, and those of others in the field, creates a baseline for building trustworthy and easy to deploy AI models in biomedicine.
Bio
Dr. Michel Dumontier is the Distinguished Professor of Data Science at Maastricht University, founder and executive director of the Institute of Data Science, and co-founder of the FAIR (Findable, Accessible, Interoperable and Reusable) data principles. His research explores socio-technological approaches for responsible discovery science, which includes collaborative multi-modal knowledge graphs, privacy-preserving distributed data mining, and AI methods for drug discovery and personalized medicine. His work is supported through the Dutch National Research Agenda, the Netherlands Organisation for Scientific Research, Horizon Europe, the European Open Science Cloud, the US National Institutes of Health, and a Marie-Curie Innovative Training Network. He is the editor-in-chief for the journal Data Science and is internationally recognized for his contributions in bioinformatics, biomedical informatics, and semantic technologies including ontologies and linked data.
Earliest Galaxies in the JADES Origins Field: Luminosity Function and Cosmic ...Sérgio Sacani
We characterize the earliest galaxy population in the JADES Origins Field (JOF), the deepest
imaging field observed with JWST. We make use of the ancillary Hubble optical images (5 filters
spanning 0.4−0.9µm) and novel JWST images with 14 filters spanning 0.8−5µm, including 7 mediumband filters, and reaching total exposure times of up to 46 hours per filter. We combine all our data
at > 2.3µm to construct an ultradeep image, reaching as deep as ≈ 31.4 AB mag in the stack and
30.3-31.0 AB mag (5σ, r = 0.1” circular aperture) in individual filters. We measure photometric
redshifts and use robust selection criteria to identify a sample of eight galaxy candidates at redshifts
z = 11.5 − 15. These objects show compact half-light radii of R1/2 ∼ 50 − 200pc, stellar masses of
M⋆ ∼ 107−108M⊙, and star-formation rates of SFR ∼ 0.1−1 M⊙ yr−1
. Our search finds no candidates
at 15 < z < 20, placing upper limits at these redshifts. We develop a forward modeling approach to
infer the properties of the evolving luminosity function without binning in redshift or luminosity that
marginalizes over the photometric redshift uncertainty of our candidate galaxies and incorporates the
impact of non-detections. We find a z = 12 luminosity function in good agreement with prior results,
and that the luminosity function normalization and UV luminosity density decline by a factor of ∼ 2.5
from z = 12 to z = 14. We discuss the possible implications of our results in the context of theoretical
models for evolution of the dark matter halo mass function.
This pdf is about the Schizophrenia.
For more details visit on YouTube; @SELF-EXPLANATORY;
https://www.youtube.com/channel/UCAiarMZDNhe1A3Rnpr_WkzA/videos
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(May 29th, 2024) Advancements in Intravital Microscopy- Insights for Preclini...Scintica Instrumentation
Intravital microscopy (IVM) is a powerful tool utilized to study cellular behavior over time and space in vivo. Much of our understanding of cell biology has been accomplished using various in vitro and ex vivo methods; however, these studies do not necessarily reflect the natural dynamics of biological processes. Unlike traditional cell culture or fixed tissue imaging, IVM allows for the ultra-fast high-resolution imaging of cellular processes over time and space and were studied in its natural environment. Real-time visualization of biological processes in the context of an intact organism helps maintain physiological relevance and provide insights into the progression of disease, response to treatments or developmental processes.
In this webinar we give an overview of advanced applications of the IVM system in preclinical research. IVIM technology is a provider of all-in-one intravital microscopy systems and solutions optimized for in vivo imaging of live animal models at sub-micron resolution. The system’s unique features and user-friendly software enables researchers to probe fast dynamic biological processes such as immune cell tracking, cell-cell interaction as well as vascularization and tumor metastasis with exceptional detail. This webinar will also give an overview of IVM being utilized in drug development, offering a view into the intricate interaction between drugs/nanoparticles and tissues in vivo and allows for the evaluation of therapeutic intervention in a variety of tissues and organs. This interdisciplinary collaboration continues to drive the advancements of novel therapeutic strategies.
Cancer cell metabolism: special Reference to Lactate PathwayAADYARAJPANDEY1
Normal Cell Metabolism:
Cellular respiration describes the series of steps that cells use to break down sugar and other chemicals to get the energy we need to function.
Energy is stored in the bonds of glucose and when glucose is broken down, much of that energy is released.
Cell utilize energy in the form of ATP.
The first step of respiration is called glycolysis. In a series of steps, glycolysis breaks glucose into two smaller molecules - a chemical called pyruvate. A small amount of ATP is formed during this process.
Most healthy cells continue the breakdown in a second process, called the Kreb's cycle. The Kreb's cycle allows cells to “burn” the pyruvates made in glycolysis to get more ATP.
The last step in the breakdown of glucose is called oxidative phosphorylation (Ox-Phos).
It takes place in specialized cell structures called mitochondria. This process produces a large amount of ATP. Importantly, cells need oxygen to complete oxidative phosphorylation.
If a cell completes only glycolysis, only 2 molecules of ATP are made per glucose. However, if the cell completes the entire respiration process (glycolysis - Kreb's - oxidative phosphorylation), about 36 molecules of ATP are created, giving it much more energy to use.
IN CANCER CELL:
Unlike healthy cells that "burn" the entire molecule of sugar to capture a large amount of energy as ATP, cancer cells are wasteful.
Cancer cells only partially break down sugar molecules. They overuse the first step of respiration, glycolysis. They frequently do not complete the second step, oxidative phosphorylation.
This results in only 2 molecules of ATP per each glucose molecule instead of the 36 or so ATPs healthy cells gain. As a result, cancer cells need to use a lot more sugar molecules to get enough energy to survive.
Unlike healthy cells that "burn" the entire molecule of sugar to capture a large amount of energy as ATP, cancer cells are wasteful.
Cancer cells only partially break down sugar molecules. They overuse the first step of respiration, glycolysis. They frequently do not complete the second step, oxidative phosphorylation.
This results in only 2 molecules of ATP per each glucose molecule instead of the 36 or so ATPs healthy cells gain. As a result, cancer cells need to use a lot more sugar molecules to get enough energy to survive.
introduction to WARBERG PHENOMENA:
WARBURG EFFECT Usually, cancer cells are highly glycolytic (glucose addiction) and take up more glucose than do normal cells from outside.
Otto Heinrich Warburg (; 8 October 1883 – 1 August 1970) In 1931 was awarded the Nobel Prize in Physiology for his "discovery of the nature and mode of action of the respiratory enzyme.
WARNBURG EFFECT : cancer cells under aerobic (well-oxygenated) conditions to metabolize glucose to lactate (aerobic glycolysis) is known as the Warburg effect. Warburg made the observation that tumor slices consume glucose and secrete lactate at a higher rate than normal tissues.
2. The term neuromuscular
disease defines disorders of
the motor unit and excludes
influences on muscular
function from the brain, such
as spasticity.
3. The motor unit has 4 components:
Motor neuron in the brainstem or anterior horn of
the spinal cord;
Axon(with other axons forming the peripheral
nerve);
Neuromuscular junction disorder; and
Myopathies (all muscle fibers innervated by a
single motor neuron).
The motor unit is influenced by suprasegmental or
upper motor neuron.
6. Weakness, poor cough, retained airway
secretions
Inability to lift extremities against gravity
Muscle wasting
Low muscle tone (hypotonia)
Poor feeding, swallowing dysfunction
Failure to thrive
Increased respiratory rate
Use of accessory muscles of respiration
Recurrent infections
Night sweats
7. Weakness results either from -:
Upper motor neuron lesion e.g cerebral palsy causing increased tone,
brisk reflexes and extensor plantar response.
Lower motor neuron lesion causing hypotonia, depressed reflexes and
flexor plantar response.
Tone and strength should not be confused: Passive tone is range of
motion around a joint; Active tone is physiologic resistance to
movement.
Involvement of the face, tongue, palate, and extraocular muscles provides
an important distinction in the differential diagnosis.
Prenatal history
Acute flaccid paralysis
8. It’s a common sign of neuromuscular disorders.
CAUSES OF HYPOTONIA
Central Hypotonia-chromosome disorders, static insult, infections
(hyperactive reflexes)
Peripheral Hypotonia (distal weakness and wasting)
Neuromuscular junction (Myasthenia Gravis leads to fluctuating
wekness)
Muscular dystrophies(proximal weakness)
Anterior horn cells- spinal muscular atrophy (asso. with wasting,
hyporeflexes)
Neurometabolic condition- deficiencies
9.
10. Serum Enzymes- creatine kinase
MM for skeletal muscle
MB for cardiac muscle
BB for brain
Mainly elevated in Duchenne muscular dystrophy.
Molecular Genetic Markers
Nerve Conduction Velocity
Electromyography- insertion of needle into belly of muscle
→ recording electric potentials in various states of
contraction.
Imaging of Muscle
Muscle Biopsy- most important (vastus lateralis is sampled)
ECG
12. Autosomal Recessive disease
Type 1(Werdnig-hoffmann disease) present with profound hypotonia
and areflexia, respiratory weakness, poor swallowing and tongue
fasciculation. Children never learn to sit and Aspiration pneumonia
cause of death.
Type 2(Dubowitz disease) onset at 6-18 months and usually able to sit
unaided but may develop kyphoscoliosis, tremors.
Type 3(Kugelberg-Welander disease) onset >18 months and usually
able to walk
Treatment is supportive and respiratory care, management of feeding
and swallowing and provide adequate nutrition.
13. Guillain-Barrẽ syndrome is the most common.
Clinical patterns to a demyelating process include-
Presence of global areflexia
Moderate to severe muscle weakness with bulk
Motor symptoms
Hypertrophy of nerves
Guillain- Barrẽ Syndrome
Common cause of AFP
Immune mediated, rapidly progressive, predominantly
motor, symmetric polyradiculoneuropathy
Condition can occur at any age within six weeks prior
to symptom
14. Clinically the respiratory illness and weakness(2-
4weeks after onset) along with tachycardia, arrhythmia,
bladder dysfunction, labile blood pressure and
impaired thermoregulation.
Diagnosis
TREATMENT
IVIG at 2g/kg over 2-5 days or plasma exchanges if
child presents within 2-4weeks.
Donot respond give second course
General supportive care
Cardiorespiratory care and nutritional management.
15. MYASTHENIA GRAVIS
Autoimmune and autosomal recessive trait disorder
characterized by rapid fatigability of striated muscle.
Three clinical varieties-
Juvenile in late infancy and childhood showing extraocular
muscle weakness.
Congenital
Transient neonatal-symptoms arises after birth till 3rd day.
Occasionally associated with hypothyroidism, systemic
lupus erythematosus.
Acetylcholine receptor antibodies may be positive.
Electromyography show increases jitter or blocking.
16. Diagnostic test done by Edrophonium chloride(0.1-
0.2mg/kg IV) and effects of weakness as distance b/w
upper and lower lid is seen in 10sec.
TREATMENT
Mild myasthenia gravis require no treatment.
Cholinesterase inhibiting drugs such as
Neostigmine methylsulfate (0.4mg/kg) I/M every 4-6hr
or oral neostigmine bromide.
Pyridostigmine (1-7mg/kg/day) in 4 divided doses
Prednisone(0.5mg/kg/day)
Thymectomy, Plasmapheresis, IVIG is effective in high
circulating levels of anti-A ch receptor antibodies.
17. A group of genetically
determined, progressive primary
myopathy characterized by
degeneration and death of
muscle fibres, occurring at some
stage of the disorder.
19. X-linked recessive
Absence of dystrophin protein
Slow to reach motor milestones
Symptoms appear in 2nd year, with clumsy walking or falling on
walking or running on an uneven ground.
Muscles replaced by fat may appear hypertrophic
Child is mentally retarded
Life expectancy < 20 years with death related to respiratory failure
or cardiomyopathy.
Gower Sign : Evident by 6 years of age-child trying to get up from
squatting position, turns to side, lifts his trunk by supporting his
weight on his arms and then stands up supporting the body with his
hands.
22. Serum CPK elevated upto 15,000-20,000 U/L (normal
2000U/L)
EMG rarely necessary but useful in doubtful cases.
Histopathology of muscle show diffuse changes of
degeneration & regeneration.
Advanced genetic studies can find gene deletion.
Physiotherapy, exercises including walking & cycling
useful; tenotomy may be required for contractures.
Prednisone (0.75mg/kg/day) for 10days of each month to
avoid chronic complications.
24. Genetics Autosomal recessive and dominant forms
First discovered in 1956 by Dr. Reyes
1/50,000 births
6 different mutations identified
Onset Infancy and early childhood
Clinical presentation Face, neck and proximal muscle
weakness
Absent deep tendon reflexes (DTR), normal creatinine
kinase
25. A form of centronuclear myopathy
Genetics X-linked recessive
Autosomal recessive and dominant
Onset Birth for X-linked recessive
Infancy and childhood for autosomal recessive
Adult for autosomal dominant
X-linked is most common form and most severe
Clinical Hypotonia, respiratory pump failure,
scaphocephaly