This document discusses the laboratory diagnosis of muscle diseases. It begins by describing the three main types of muscle tissue - skeletal, smooth, and cardiac muscle. It then covers diseases that can affect each muscle type. For skeletal muscle diseases, it lists various acquired and genetic myopathies. The document outlines many laboratory investigations that can aid in diagnosis, including blood tests, enzyme assays, protein analysis, and antibody testing. Muscle biopsy and special tests are also discussed as important diagnostic tools for evaluating muscle diseases.
Enzymology clinical significance of enzymes and isoenzymesrohini sane
A comprehensive presentation on Enzymology Clinical significance of Enzymes & Isoenzymes for MBBS , BDS, B Pharm & Biotechnology students to facilitate self- study.
ALT is an enzyme present in liver, heart skeletal muscles, highest concentration is present in Liver. it value increases when there is abnormality in liver, ALT is an amino transferase which transfer one amino group from an amino acid and transfer to another substance for production of non essential amino acid
LHD is an enzyme which is width sprid through the body tissue has an important role in the conversion of pyrovate into lactate within the tissue when ever there is hypoxia in the body
International Journal of Pharmaceutical Science Invention (IJPSI) inventionjournals
International Journal of Pharmaceutical Science Invention (IJPSI) is an international journal intended for professionals and researchers in all fields of Pahrmaceutical Science. IJPSI publishes research articles and reviews within the whole field Pharmacy and Pharmaceutical Science, new teaching methods, assessment, validation and the impact of new technologies and it will continue to provide information on the latest trends and developments in this ever-expanding subject. The publications of papers are selected through double peer reviewed to ensure originality, relevance, and readability. The articles published in our journal can be accessed online
Enzymology clinical significance of enzymes and isoenzymesrohini sane
A comprehensive presentation on Enzymology Clinical significance of Enzymes & Isoenzymes for MBBS , BDS, B Pharm & Biotechnology students to facilitate self- study.
ALT is an enzyme present in liver, heart skeletal muscles, highest concentration is present in Liver. it value increases when there is abnormality in liver, ALT is an amino transferase which transfer one amino group from an amino acid and transfer to another substance for production of non essential amino acid
LHD is an enzyme which is width sprid through the body tissue has an important role in the conversion of pyrovate into lactate within the tissue when ever there is hypoxia in the body
International Journal of Pharmaceutical Science Invention (IJPSI) inventionjournals
International Journal of Pharmaceutical Science Invention (IJPSI) is an international journal intended for professionals and researchers in all fields of Pahrmaceutical Science. IJPSI publishes research articles and reviews within the whole field Pharmacy and Pharmaceutical Science, new teaching methods, assessment, validation and the impact of new technologies and it will continue to provide information on the latest trends and developments in this ever-expanding subject. The publications of papers are selected through double peer reviewed to ensure originality, relevance, and readability. The articles published in our journal can be accessed online
Dermatomyositis is part of a group of rare diseases called the inflammatory myopathies that involve chronic (long-standing) muscle inflammation, muscle weakness, and in some cases, muscle pain. Myopathy is a general term used to describe a number of conditions affecting the muscles.
Enhancing Laboratory Leadership through Financial Management Skills.pptxOla Elgaddar
In our recent presentation titled 'Strengthening Lab Leadership through Financial Management,' we explored how financial skills can enhance lab management. Attendees discovered practical ways to leverage financial tools for more effective resource allocation and sustainable growth. The session showcased how mastering financial management can streamline lab operations and improve overall leadership performance.
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Most of Medical labs are having KPIs to monitor their performance and enhance process improvement. This presentation discusses in short the IFCC attempts to reach a consensus and harmonize medical labs quality indicators.
Strategic planning, Ola Elgaddar, 12 12-2016Ola Elgaddar
A simple introduction to the basic concepts of strategic planning addressing anyone who works in any organization, aiming at elucidating some vague terms like strategy, environmental scanning, mission, vision,......!!
It is very important to every employee, who is a bit away from decision makers in his organization, to know the basic concepts at least.
ELISA is one of the commonly used laboratory techniques. As it is a multi-step manual technique, every step should be carefully monitored. Here is a short presentation on the common things that should be considered when using ELISA.
Are we using the correct quality goals?Ola Elgaddar
Setting quality goals / specifications is a debatable issue since 1999. I am trying here to show the options and the continuos trials from several professional bodies to reach a consensus in this matter.
This was an oral presentation in the first international conference of the Chemical Pathology Department, Medical Research Institute, Alexandria University - February 2016
What do clinicians need to know about lab tests?Ola Elgaddar
A presentation in the Annual meeting of the Egyptian American Scholars (AEAS) in Cairo 2015.
I am trying here to describe, in short, from my point of view as a laboratorian, the points that we need to discuss with clinicians. Both groups should share some terms and definitions and should see things from the same perspective!
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The forth lecture about the "Cell".
Here, I am discussing the several signaling pathways.....It is highly dependent on the 3rd lecture; Receptors.
Enjoy :)
This is the first one of a series of lectures about the "Cell". I am here introducing some basic principles about the cell structure, types, histology and biochemistry
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!
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.
Prix Galien International 2024 Forum ProgramLevi Shapiro
June 20, 2024, Prix Galien International and Jerusalem Ethics Forum in ROME. Detailed agenda including panels:
- ADVANCES IN CARDIOLOGY: A NEW PARADIGM IS COMING
- WOMEN’S HEALTH: FERTILITY PRESERVATION
- WHAT’S NEW IN THE TREATMENT OF INFECTIOUS,
ONCOLOGICAL AND INFLAMMATORY SKIN DISEASES?
- ARTIFICIAL INTELLIGENCE AND ETHICS
- GENE THERAPY
- BEYOND BORDERS: GLOBAL INITIATIVES FOR DEMOCRATIZING LIFE SCIENCE TECHNOLOGIES AND PROMOTING ACCESS TO HEALTHCARE
- ETHICAL CHALLENGES IN LIFE SCIENCES
- Prix Galien International Awards Ceremony
Knee anatomy and clinical tests 2024.pdfvimalpl1234
This includes all relevant anatomy and clinical tests compiled from standard textbooks, Campbell,netter etc..It is comprehensive and best suited for orthopaedicians and orthopaedic residents.
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
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
New Directions in Targeted Therapeutic Approaches for Older Adults With Mantl...i3 Health
i3 Health is pleased to make the speaker slides from this activity available for use as a non-accredited self-study or teaching resource.
This slide deck presented by Dr. Kami Maddocks, Professor-Clinical in the Division of Hematology and
Associate Division Director for Ambulatory Operations
The Ohio State University Comprehensive Cancer Center, will provide insight into new directions in targeted therapeutic approaches for older adults with mantle cell lymphoma.
STATEMENT OF NEED
Mantle cell lymphoma (MCL) is a rare, aggressive B-cell non-Hodgkin lymphoma (NHL) accounting for 5% to 7% of all lymphomas. Its prognosis ranges from indolent disease that does not require treatment for years to very aggressive disease, which is associated with poor survival (Silkenstedt et al, 2021). Typically, MCL is diagnosed at advanced stage and in older patients who cannot tolerate intensive therapy (NCCN, 2022). Although recent advances have slightly increased remission rates, recurrence and relapse remain very common, leading to a median overall survival between 3 and 6 years (LLS, 2021). Though there are several effective options, progress is still needed towards establishing an accepted frontline approach for MCL (Castellino et al, 2022). Treatment selection and management of MCL are complicated by the heterogeneity of prognosis, advanced age and comorbidities of patients, and lack of an established standard approach for treatment, making it vital that clinicians be familiar with the latest research and advances in this area. In this activity chaired by Michael Wang, MD, Professor in the Department of Lymphoma & Myeloma at MD Anderson Cancer Center, expert faculty will discuss prognostic factors informing treatment, the promising results of recent trials in new therapeutic approaches, and the implications of treatment resistance in therapeutic selection for MCL.
Target Audience
Hematology/oncology fellows, attending faculty, and other health care professionals involved in the treatment of patients with mantle cell lymphoma (MCL).
Learning Objectives
1.) Identify clinical and biological prognostic factors that can guide treatment decision making for older adults with MCL
2.) Evaluate emerging data on targeted therapeutic approaches for treatment-naive and relapsed/refractory MCL and their applicability to older adults
3.) Assess mechanisms of resistance to targeted therapies for MCL and their implications for treatment selection
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...VarunMahajani
Disruption of blood supply to lung alveoli due to blockage of one or more pulmonary blood vessels is called as Pulmonary thromboembolism. In this presentation we will discuss its causes, types and its management in depth.
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
2. • Muscle is a specialized type of C.T
• Three types of muscle tissue can be identified
on the basis of structure, contractile
properties, and control mechanisms into:
1. Skeletal M.
2. Smooth M.
3. Cardiac M.
3. 1) Skeletal muscle:
• Attached to the skeleton.
• Muscle fibers are tubular, multinucleated, and
striated.
(Striation from thick myosin with thin actin myofibres)
• Voluntary in action.
4. 2) Smooth muscle:
• An integral part of many internal organs
(stomach, intestines, U.B, uterus, B.V, and airways)
• Muscle fibers are spindle-shaped, uninucleated
and non-striated
•Involuntary in action, controlled by A.N.S &
hormones
5. 3) Cardiac muscle:
• Forms the heart.
•Muscle fibers are tubular, branched,
uninucleated, and striated.
•Involuntary in action, determined by specialized
pace maker cells in the SAN
6. Physiology:
• All three muscle types use the movement of
actin against myosin to create contraction.
• All skeletal muscle and many smooth muscle
contractions
are
facilitated
neurotransmitter acetylcholine
by
the
• Proper muscle contraction needs contractile
myofibrils (actin & myosin) together with
calcium and ATP.
14. LABORATORY INVESTIGATIONS OF MUSCLE DISEASES
Preliminary investigations
II.
Enzyme activities
III.
Proteins
IV.
Antibodies testing
V.
Other laboratory tests that might aid in the diagnosis
VI.
Immunohistochemistry
VII. Genetic studies
VIII. Skeletal muscle biopsy
IX.
Special tests
I.
15. I) Preliminary investigations
1) Complete blood picture:
Anemia: associates systemic diseases, phosphofructokinase
deficiency (hemolytic),
Leukocytosis: polymyositis and dermatomyositis
Eosinophilia: polymyositis
2) ESR & CRP:
Elevated in polymyositis, dermatomyositis and during activity
of collagenic diseases.
3) Creatine & Creatinine:
Elevated serum creatinine: rhabdomyolysis, scleroderma,
sarcoidosis,
Elevated urine creatine: Myopathy associated with alcoholism
Elevated creatine/creatinine ratio: Muscular Dystrophies,
active muscle diseases.
16. 4) Electrolytes:
Serum calcium:
When decreases causes muscle rigidity and tetany.
When increases causes muscular hypotonia.
Serum potassium:
Increases: malignant hyperthermia (> 7 mEq/L), hyperkalemic
familial periodic paralysis (may reach values > 8 mEq/L).
Decreases: hypokalemic familial periodic paralysis (< 2 mEq/L)
5) Arterial blood gases:
1) Combined metabolic and respiratory acidosis
Malignant Hyperthermia
(Diagnostic in the presence of muscle rigidity or rising temperature)
2) Increased pCo2:
Indicates progressive respiratory failure in Myasthenia Gravis
3) Early respiratory alkalosis then respiratory acidosis follows:
Bronchial asthma
17. II) Enzyme activities
A)
Primary muscle enzymes:
1. Creatine kinase (mainly CK-MM): test of choice
•Increased in:
- Prolonged exercise
-Polymyositis
{the most useful diagnostic test. Increased in 70% of patients. Levels may vary greatly,
up to 50 X ULN. The level frequently becomes normal with steroid therapy}
-Duchenne muscular dystrophy
{always increased in affected children (5–100X ULN of adults) to peak by 2 years of age;
then begin to fall as disease becomes manifest. In fact, persistent normal CK virtually
rules out this diagnosis. Not affected by steroids}
-Facioscapulohumeral Dystrophy
{ mildly increased in 75% of patients to average 3X ULN}
-Limb-Girdle Dystrophy
{increased in 70% of patients to average of 10X ULN}
-Myotonic dystrophy
{ mildly increased in 50% of patients to average 3X ULN}
18. - Acute myopathy associated with alcoholism
{increased in 80% of patients; rises in 1 to 2 days; reaches peak in 4 to 5 days; lasts ~2
weeks}
- Chronic myopathy associated with alcoholism
{ increased in 60% of patients to average of 2X ULN}
- Malignant hyperthermia
{up to 20,000 - 100,000 U/L}
- Rhabdomyolysis
{ up to 20 X ULN which rises and falls rapidly}
• Normal in:
- Scleroderma
- Familial periodic paralysis
- Discoid lupus
- Muscle atrophy of neurologic origin (e.g., old poliomyelitis, polyneuritis)
- Hyperthyroid myopathy
•
Decreased in:
- Rheumatoid arthritis (~2/3 of patients)
19. 2. CK-MB:
Skeletal Muscle Disorders That May Cause Increased Serum CK-MB:
(Reflecting its production by regenerating muscle)
Malignant hyperthermia
Alcoholic myopathy
Dermatomyositis/polymyositis
Duchenne muscular dystrophy
Exercise myopathy
Familial hypokalemic periodic paralysis
Endocrine (e.g., hypoparathyroidism, acromegaly)
Rhabdomyolysis
Infections
Severe skeletal muscle trauma
20. 3) Aldolase:
Marked increase in Rhabdomyolysis
Elevated in 75% of cases of polymyositis and 20% of cases of
muscular dystrophy.
4. Lactate Dehydrogenase:
LD-5 is the iso-enzyme that is elevated in skeletal muscle
diseases.
Marked increase in Rhabdomyolysis
Elevated in 25% of cases of polymyositis and 10% of cases of
muscular dystrophy.
5. AST:
Marked increase in Rhabdomyolysis (> 3000 IU/L)
Elevated in 25% of cases of polymyositis and 15% of cases of
muscular dystrophy.
21. B) Specific enzymes:
1. Angiotensin-converting enzyme:
- Elevated in sarcoidosis
2. Carnitine palmitoyltransferase deficiency (Lipid storage diseases):
22. CPT I and CPT II are essential for the transport of long-chain
fatty acids from the cytosol to the mitochondria.
It is the most commonly identified metabolic cause of recurrent
myoglobinuria (dark urine) in adults.
Patients often have episodes of muscle pain, stiffness, and
tenderness, usually without frank cramps. The attacks are
triggered by prolonged exercise, especially in fasting
conditions.
May cause a severe and fatal disease in the neonatal period
and during early infancy characterized by hypoketotic
hypoglycemia.
Plasma carnitine level may be increased in CPT I deficiency,
but it is usually normal in CPT-II deficiency.
Final diagnosis usually is established through biochemical
demonstration of CPT deficiency in the muscle.
CPT deficiency should be differentiated from glycogen storage
diseases, particularly McArdle disease.
23. 3) Glycogen storage diseases (glycogenoses):
Deficiency of the following enzymes is biochemically detected in muscles:
Glycogenosis type II - Acid maltase deficiency (AMD); Pompe disease.
Glycogenosis type V - Muscle phosphorylase deficiency; McArdle disease.
Glycogenosis type VII - Phosphofructokinase deficiency; Tarui disease.
Glycogenosis type IX - Phosphoglycerate kinase deficiency.
Glycogenosis type X - Phosphoglycerate mutase deficiency.
24.
25. III) Proteins:
A. Myoglobin:
Urinary and serum Myoglobin is elevated in:
Rhabdomyolysis
Carnitine palmitoyltransferase deficiency
Trauma
Malignant hyperthermia
Polymyositis / Dermatomyositis
Duchenne muscular dystrophy & Facioscapulohumeral dystrophy
Myopathy associated with alcohol intake
Myoglobin clearance:
A value below 4 ml / min suggests high incidence for developing
ARF in patients with rhabdomyolysis. (Earlier than CCl)
26. B) Troponins:
Skeletal Troponin T and Skeletal troponin I, with its two distinct
isoforms (fast and slow), are elevated in:
Exercise induced muscle injury.
Myositis (suggested by some authors)
C) Dystrophin:
Dystrophin protein quantitated by Western blot on biopsy of muscle
is <3% of normal in Duchenne muscular dystrophy.
Immunofluorescence performed on biopsy of muscle is used to
confirm WB results in patients with suspected dystrophinopathy.
D) Alpha1-antitrypsin:
Its serum level decreases in emphysema patients.
27. IV) Antibodies testing:
A) Antibodies in Myasthenia Gravis (MG): (RIA & Radioreceptor assay)
1. Acetylcholine Nicotinic Receptor-Binding Antibodies
The standard assay and should be ordered first.
Has a sensitivity of 80 – 96 % and a specificity > 99 %.
Negative in about 50 % of cases with ocular MG>
Correlates with severity and ameliorated by treatment.
2. Acetylcholine Nicotinic Receptor-Blocking Antibodies
More often associated with more severe forms of disease.
3. Acetylcholine Nicotinic Receptor-Modulating Antibodies
Positive in 7% of MG patients when AChR-binding antibodies are not detected.
4. Antibodies to skeletal muscle cross-striations
Found in 30% of adult MG patients.
5. Antibodies against Muscle Specific Kinase
Present in about 50 % of sero-negative patients.
6. Other antibodies
Anti-DNA, ANA, anti-parietal cell, anti-smooth muscle, antimitochondrial,
antithyroid antibodies, rheumatoid factor.
28. B) Antibodies against P/Q voltage-gated calcium channel:
- In Lambert-Eaton syndrome.
- D.D from MG.
C) Myositis specific auto antibodies: (ELISA, IF & immunoprecipitation)
Anti Ro-52, anti Jo-1, anti Mi-2, anti SRP,
anti PM / Scl-100, anti PM / Scl-75
D) Antibodies in scleroderma:
Anti-DNA, Anti-La/SS-B, Antinuclear antibody, Anti-RNP, Anti-Sm test.
29. V) Other laboratory tests that might aid in the diagnosis:
1) Urine cytology and toxicology screening: rhabdomyolysis
2) Fecal leukocytes and occult blood: diverticulosis
3) HLA B 27: MG
4) D-xylose test in serum or urine: scleroderma
5) CSF Immunoglobulin G ratios and immunoglobulin G index:
MS
6) Carnitine level: decreases in muscles and plasma on
carnitine deficiency myopathy.
30. VI) Immunohistochemistry:
1) Myeloid-related proteins MRP8 and MRP14:
Calcium binding proteins expressed in inflammatory myopathies
2) Ki-67 proliferation protein:
- Cellular marker of proliferation detected immunohistochemically
by a monoclonal antibody.
- Expressed in sarcoidosis.
3) Smooth muscle markers:
- Smooth muscle α-actin (α-SMA): in Chronic idiopathic intestinal
pseudo-obstruction
- Smooth muscle myosin heavy chain (SMMHC): in
gastrointestinal motility disorders
- Smoothelin (SM): in gastrointestinal motility disorders
- Histone deacetylase 8 (HDAC8): in gastrointestinal motility
disorders
32. 5) Glycogen storage diseases:
Glycogenosis type II : autosomal recessive (17q23)
Glycogenosis type V(McArdle disease): autosomal recessive (11q13)
Glycogenosis type VII: autosomal recessive (12q13.3)
Glycogenosis type IX: X-linked recessive (Xq13)
Glycogenosis type X: autosomal recessive (11p15.4) (isozyme LDH-M on
chromosome 11/ LDH-H on chromosome 12)
6) Bronchial asthma:
- ADAM33 gene located on chromosome 20 and is expressed in lung and
muscle cells.
It is believed to be related to asthma as it causes the airways to over-respond
and constrict airway passage.
- Other genes: PHF11, DPP10, GRPA & SPINK5
(Their functions are still obscure)
33. VIII) Skeletal muscle biopsy: (Confirmatory)
- Muscular dystrophy: fibers necrosis, regeneration and
replacement by fat.
- Mitochondrial diseases: ragged red muscle fibers.
- Polymyositis: inflammatory changes with mononuclear
cells infiltration.
- Myopathic carnitine deficiency: increased number of lipid
droplets with minimal or no increase in mitochondria.
- Glycogenosis type V(McArdle disease): glycogen
accumulation in muscle fibers.
34. IX) Special tests:
1) Malignant Hyperthermia: (inhalation anesthesia, increase
calcium, M. rigidity)
- Gold standard for diagnosis by in vitro exposure of biopsied
skeletal muscle to caffeine-halothane contracture test; S/S =
99%/94%.
2) Edrophonium test:
- Its application is limited to the situation when other investigations
do not yield a conclusive diagnosis about MG.
- This test requires the intravenous administration of edrophonium
chloride (Tensilon), a drug that blocks the breakdown of
acetylcholine by cholinesterase and temporarily increases the
levels of acetylcholine at the neuromuscular junction.
- In people with myasthenia gravis involving the eye muscles,
edrophonium chloride will briefly relieve weakness.
35. 3) Forearm ischemic exercise test:
- To D.D glycogen and lipid storage diseases.
Technique
- Draw venous blood for lactate as baseline samples.
- Apply a sphygmomanometer on the arm to be tested and raise its
pressure slightly above the systolic blood pressure.
- Ask the patient to exercise repetitively for 1 minute.
- Stop exercise, deflate the sphygmomanometer, and draw blood
samples at 1, 3, 6, and 10 minutes after 1 minute of exercise for
lactate and ammonia.
Findings
- In healthy subjects, lactate level should increase to 3-5 times the
basal level in the first 2 samples after exercise and then decrease
gradually to the baseline.
- In glycogen storage diseases, such as McArdle disease, serum
lactate levels do not increase after exercise (ie, flat lactate curve),
while in lipid storage diseases, lactate and level increase in a normal
fashion.