Group 2

Case discussion
 Case 1
MOLECULAR
MOTOR PROTEINS
Table of contents Members

Salient features Ramya

Differential diagnosis Pratiksha

Working impression Manoj jeella

Structure, synthesis, release and Akshitha, Krishnendhu, Lok sai

degradation of neurotransmitter madhu

Muscle contraction Somya

Correlation of patient’s manifestations Bhoomika

Laboratory workup, treatment and Siddharth,Harsha,Dayana

management
Case
A 40-year-old woman came to your clinic with
difficulty chewing food. She states that when she eats
certain foods her jaw muscles become weak but after
resting, her jaw muscles regain their strength until
she eats again.
 01
What are your salient
features?
SALIENT FEATURES
● Age -40 year old
● Sex- female
● Difficulty chewing food
● She states that when she eats certain foods her
jaw muscles become weak
● After resting, her jaw muscles regain their
strength until she eats again.
 Based on your salient features, discuss
02 your ruling in and ruling out points in
your differential diagnosis.
DISEASE RULE IN RULE OUT REMARK

LAMBERT EATON ● DIFFICULTY ● WEAKNESS REJECT

SYNDROME IN CHEWING THAT
FOOD IMPROVES
● MUSCLE WITH
WEAKNESS EXERCISE

MULTIPLE ● DIFFICULTY ● Regain REJECT

SCLEROSIS IN CHEWING STRENGTH
FOOD AFTER REST
● MUSCLE
WEAKNESS

MYASTHENIA ● DIFFICULTY ACCEPT

GRAVIS IN CHEWING
FOOD
● MUSCLE
WEAKNESS
03
What is your working
impression?
Working impression: Myasthenia Gravis
✚ Neuromuscular disorder characterized by weakness and rapid
fatigue of the voluntary muscles, including the muscles involved in
chewing and swallowing.

✚ The key features that suggest Myasthenia Gravis in this case are:
Age and gender
Difficulty chewing
Muscle weakness
Specific triggers
Autoimmune nature

Target and attack , Lacks signaling , Acetylcholine at rest , Weakness returns

04
Discuss the structure, synthesis, release
and degradation of the neurotransmitter
necessary for skeletal muscle contraction.
 2 aminoethanol

Acetylcholine
synthesis
Acetylcholine Release
Acetylcholine Degradation
 05
Discuss muscle contraction.
06
Using concepts 4 and 5 discuss
and correlate them to your
patient’s manifestations.
07
Discuss your laboratory work up,
treatment, and management.
Laboratory work up
Treatment
➔ Medications
● Cholinesterase inhibitors
● Corticosteroids
● Immunosuppressants
➔ Surgery
● Video-assisted thymectomy
● Robot-assisted thymectomy
➔ Intravenous therapy
● Plasmapheresis
● Intravenous immunoglobulin (IVIg)
● Monoclonal antibody
 Management
Problem list → diagnostics → management
Diff chewing but regains → ice pack, EMG, NCV, serology (autoAb), CT → MG →

Problem: (+) Ab that attack ACh Receptors → AChE inhibitor (Pyridostigmine)

Adjust
(+) eating
Ab attacking self Safety
routine precautions Eye patches
➔ Break between food ➔ Railings, grab bars ➔ In case of double
bites ➔ Obstacle clearance vision.
➔ Eating soft foods outside and inside ➔ Keep switching to
➔ Avoid raw fruits and house avoid strain
vegetables
Problem list → diagnostics → management
Diff chewing but regains → ice pack, EMG, NCV, serology (autoAb), CT → MG →

Problem: (+) Ab that attack ACh Receptors → AChE inhibitor (Pyridostigmine)

(+) Ab attacking self → suppress (immunosuppresants) steroids

Possible thymectomy
Usage of power tools
Plan
and appliances
➔ Conserve energy ➔ When more energetic
 Case 2
Hemoglobinopathies
Table of contents Members

Clinical findings Siddharth

Differential diagnosis and diagnosis Somya

Laboratory tests Dayana, Harsha

Heme synthesis and degradation Akshitha, Krishnendhu,

Bhoomika
Genetic basis Manoj, Prathiksha

Treatment Lok sai madhu

Prognosis Ramya
 Case
A 36-year-old male came in to your clinic for the chief complaints of anemia
and jaundice.
At the time of presentation, the patient was a recent immigrant from Iran
who wished to establish care with a local physician. He had been chronically
jaundiced and anemic since childhood, with multiple episodes of severe
anemia requiring transfusion. He reported receiving more than 30 units of
blood prior to age 17. Folic acid and Iron supplements were his only
medication. He has no history of tobacco or alcohol abuse. The patient is
married with 1 child and works as a university professor. His mother and 1
sister both have persistent anemia also, although they are not as severely
affected as he is. His father and 3 brothers have no known hematologic
disorders.
 01
What are the most significant clinical
findings in the history and physical
examination?
Clinical Findings:
● Age: 36 years
● Sex: Male

● Anemia and Jaundice

● He reported being chronically jaundiced and anemic since childhood with multiple episodes of
severe anemia requiring blood transfusion receiving more than 30 units of blood prior to age 17.

● His mother and one sister both having persistent anemia although not severely affected and his
father and 3 brothers having no known hematologic disorders.
 ● Icteric sclera, pale conjunctiva, no anterior neck mass, no cervical lymph nodes palpated, pale
nail beds and Nontender splenomegaly was noted extending to the level of the umbilicus.

Physical examination findings:

● Blood Pressure: 130/75 mmHg
● Heart rate: 72 beats per minute
● Respiration rate: 16 breaths per minute
● Temperature: 36.8 Celsius

● Folic acid and Iron supplements

 02
What is the most likely diagnosis and
what are the differential diagnoses for
these findings?
 Differential diagnosis
DISEASES RULE IN RULE OUT REMARKS

BETA THALASSEMIA Icteric sclera, pale Accepted

MAJOR conjunctiva, and jaundiced
skin, Nontender splenomegaly

IRON ANEMIA Splenomegaly , iron and folic Extreme fatigue and weakness. Not accepted
DEFICIENCY deficiences .

Hereditary spherocytosis Anemia , jaundice , enlarged Abdominal Pain and Discomfort Not accepted
spleen
 03
What laboratory tests are routinely used to
distinguish between the possible
causes for this patient’s condition? Which test
will confirm the diagnosis? What
are the expected findings?
LABORATORY WORKUP
1. Complete Blood Count (CBC)
➔ Elevated RBC count
➔ Microcytic hypochromic anemia
2. Iron Studies
➔ Serum ferritin levels are higher
3. Peripheral Smear
➔ Microcytic hypochromic anemia
➔ Target cells (codocytes), teardrops, cells with
basophilic stipplings
4. Hemoglobin Analysis
5. Molecular testing
● Complete Blood Count (CBC) - measures of
hemoglobin and the quantity of RBCs
● Hemoglobin test- measures types of
hemoglobin in blood sample
● Expected findings - fewer healthy RBC and
less hemoglobin than normal
 04
Discuss heme synthesis and
degradation.
 05
What is the genetic basis of this disease?
Why is this patient’s presentation more
severe than the rest of his family? Is
genetic counseling recommended for this
disease?
 Severity of the patient

● It is an Autosomal recessive genetic disorder.

● Affected children are obligate heterozygotes
At conception,
25% chances of being affected with parents being Heterozygotes
50% chances of being asymptomatic carriers
25% chances of being unaffected and carrier

● The parents have 25% risk

● Prevention of this is based on carrier identification, genetic counseling and prenatal
diagnosis
Genetic counselling
● Counselling will provide emotional support, that can help the
patient understand thalassemia and what causes it, how it is
inherited, and what a diagnosis mean.
○
● Genetic counsellors are trained to provide information and
support to the patient circumstances, culture and beliefs.
What biochemical basis
would explain the clinical Pathophysiology
findings in the patient.
06
TREATMENT
Problems:
Jaundice →
Anemia —> BT,
Ineffective erythropoiesis → Fe,, FA
Splenomegaly → possible splenectomy

Blood Transfusions: Regular blood transfusions are essential to provide the

patient with healthy red blood cells and to maintain a sufficient hemoglobin level
in the blood. The frequency of transfusions may vary from every few weeks to
months, depending on the severity of the condition.

Iron Chelation Therapy: Iron chelation therapy is used to remove the excess
iron and prevent iron-related complications. Chelating agents like deferoxamine,
deferiprone, or deferasirox are commonly used.

Folic Acid Supplements: Folic acid helps in the production of red blood cells
and can help improve the efficiency of transfusions.

Bone Marrow Transplantation: A bone marrow or stem cell transplant can offer
a potential cure for beta thalassemia major. This procedure involves replacing the
defective bone marrow with healthy stem cells from a compatible donor.
Problems:
Jaundice →
Anemia —> BT, → Fe overload → Hemochromatosis → Fe chelation
Ineffective erythropoiesis → Fe,, FA
Splenomegaly → possible splenectomy
B-thalassemia → BM transplant,
Mutation at Ch 1 → Gene therapy
 07
What is the patient’s prognosis?
PROGNOSIS

✚ Prognosis depends on the underlying cause of chronic jaundice and

anemia.
✚ Further evaluation and diagnostic testing are needed for specific
diagnosis and treatment options.
✚ Hereditary component suggests potential genetic factors involved.
✚ Ongoing medical management is crucial due to the long-standing
nature of the condition.
✚ Regular follow-up with a healthcare provider to monitor health and
improve quality of life.
References
✚ https://my.clevelandclinic.org/health/diagnostics/22420-hemoglobin-electrophoresi
s2023 Cleveland Clinic.
✚ https://www.mayoclinic.org/diseases-conditions/myasthenia-gravis/diagnosis-treat
ment/drc-20352040 Mayo Foundation for Medical Education and Research (MFMER).
✚ Halder, N., & Lal, G. (2021). Cholinergic system and its therapeutic importance in
inflammation and autoimmunity. Frontiers in Immunology, 12.
https://doi.org/10.3389/fimmu.2021.660342
✚ Khan, A., & Rehman, A. U. (2022, August 30). Laboratory evaluation of beta
thalassemia. National Center for Biotechnology Information.
https://pubmed.ncbi.nlm.nih.gov/36251822/
✚ Lieberman, M., and A. Peet, eds. Marks' Basic Medical Biochemistry: A Clinical Approach, 5th
ed. Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins, 2018, Chapter 3: The
Fasted State, Chapter 19: Basic Concepts in Regulation.
THANK YOU