The document contains a case study of a 29-year-old man presenting with chills and breathing difficulty who is diagnosed with HIV infection based on his history of drug abuse, weight loss, lymphadenopathy, and presence of Kaposi's sarcoma and Pneumocystis pneumonia. It also includes questions about liposomes, collagen, sickle cell anemia, oculo-cutaneous albinism, marasmus, statins, acute intermittent porphyria, megaloblastic anemia, phenylketonuria, and essential amino acids.
these clearance test plays an very important role in determining the functioning capacity and working status of kidney.
and we estimate how amount of compund is excreted in the urine and absorption too.
and i also attached the mathematical caluculation to identify the metabolic valuve of urea, creatinine, inulin clearance by kidney.
these clearance test plays an very important role in determining the functioning capacity and working status of kidney.
and we estimate how amount of compund is excreted in the urine and absorption too.
and i also attached the mathematical caluculation to identify the metabolic valuve of urea, creatinine, inulin clearance by kidney.
What is a metabolic disease?
Inborn errors of metabolism”
inborn error : an inherited (i.e. genetic) disorder
metabolism : chemical or physical changes in a biological system
NURS 6501
Knowledge Check: Module 8
Student Response
This Knowledge Check reviews the topics in Module 8 and is formative in nature. It is worth 20 points where each question is worth 1 point. You are required to submit a sufficient response of at least 2-4 sentences in length for each question.
Scenario 1: Acute Lymphoblastic Leukemia (ALL)
A ten-year-old boy is brought to clinic by his mother who states that the boy has been listless and not eating. She also notes that he has been easily bruising without trauma as he says he is too tired to go out and play. He says his bones hurt sometimes. Mother states the child has had intermittent fevers that respond to acetaminophen. Maternal history negative for pre, intra, or post-partum problems. Child’s past medical history negative and he easily reached developmental milestones. Physical exam reveals a thin, very pale child who has bruises on his arms and legs in no particular pattern. The APRN orders complete blood count (CBC), and complete metabolic profile (CMP). The CBC revealed Hemoglobin of 6.9/dl, hematocrit of 19%, and platelet count of 80,000/mm3. The CMP demonstrated a blood urea nitrogen (BUN) of 34m g/dl and creatinine of 2.9 mg/dl. The APRN recognizes that the patient appears to have acute leukemia and renal failure and immediately refers the patient to the Emergency Room where a pediatric hematologist has been consulted and is waiting for the boy and his mother. The diagnosis of acute lymphoblastic leukemia (ALL) was made after extensive testing.
Question 1 of 2:
What is ALL?
<Type your response here> Acute lymphoblastic leukemia (ALL) is most common in children and adolescents, ALL represents about 75% of all childhood and 67% of all adolescent leukemia cases blood and bone marrow that affects white blood cells. It occurs when a bone marrow cell develops errors in its DNA and affects the white blood cells. A sibling with acute lymphocytic leukemia have an increased risk of ALL
Question 2 of 2:
How does renal failure occur in some patients with ALL?
<Type your response here> renal failure occurs in patients with acute leukemia because of the outcome of the chemotherapeutic regimen, including leukemic infiltration of the kidneys, therapy-related side effects such as tumor lysis syndrome, nephrotoxic drugs, and septicemias.
Scenario 2: Sickle Cell Disease (SCD)
A 12-year-old female with known sickle cell disease (SCD) present to the Emergency Room in sickle cell crisis. The patient is crying with pain and states this is the third acute episode she has had in the last nine months. Both parents are present and appear very anxious and teary eyed. A diagnosis of acute sickle cell crisis was made. Appropriate therapeutic interventions were initiated by the APRN and the patient’s pain level decreased, and she was transferred to the pediatric intensive care unit (PICU) for observation and further management.
Question 1 of 2:
What is the pathophysiology of acute SCD crisis and ...
A much-quoted aphorism in medicine is “Listen to your patient and they are telling you the diagnosis”. Most often, the history reveals the diagnosis and sometimes, it is all that is required to make the diagnosis. Unfortunately, in this age of modern technology-based medicine, many busy clinicians fail to get a proper history and miss important dots in the history that connect to the diagnosis. This is clinically relevant, as a specific diagnosis completely alters the nature of treatment and thereby improves prognosis.
Clinical insights and challenges: A rare case report of Leigh syndromebijnnjournal
Leigh syndrome is a severe neurological disorder that impairs mobility and respiration, among other bodily
functions. Progressive brain deterioration is what makes it distinctive. This case report describes a 10-monthold female child who displayed symptoms such as vibratory movements in the right upper and left lower limbs,
failure to thrive, decreased activity, and vomiting after consuming supplemental feeds. Multiple clinical signs of
Leigh syndrome, including missed developmental milestones and mild acute malnutrition, were identified during
a physical examination. So the symptoms that led to the diagnosis of Leigh syndrome were quadriparesis,
dystonia, intermittent stridor (laryngeal dystonia), and bulbar weakness
The aim of this work is to illustrate a difficult diagnostic in vitamin B12 deficiency because of using of multivitamin preparations to a patient with unknown etiology of anemia. History Patient: a 70 year old engineer, following 8 years vegetable – dietary, was admitted to the county hospital, in neurology department, with diagnostic of poli-radiculonevrites, received in ward the treatment with milgama (containing 250 micro-gram multivitamin). After a lipotimia status the patient was transferred to cardiology department. Laboratory examinations showed in peripheral blood: Hb = 6 3 g/dl; Ht = 18.8%; RBC= 290.000/mm³; PLT. = 214000/mm³; WBC = 5300/³mm; Ret. = 3, 7%; Erythrocytes indices = normal values; ESR = 38 mm/h, moderate increase and serum iron decreased, 36 microgram/dl value. On blood smear in optic microscopy was registered: Band = 5% (with nucleus in ring!!!), differential count being normally with aspect flags on Coulter HMX Analyzer with 22 parameters: neutrophilia, lymphopenia, anemia. To microscopic examination of slide from bone morrow, have occurred the hyperplasic series of erythrocytes ~ 45%, deficiency of erythropoiesis, poly-cromathopil and acidophil erythroblasts with megaloblastic character, large metamielocytes and giant band forms. Macrocytes and ovalocytes where also presented. Biopsy results from gastric mucosa showed lesions of chronic gastritis, non-atrophic epithelium. Conclusions: Megaloblastosis appears in some time with vitamin B12 deficiently in bone morrow but no in peripheral blood because of administration of multivitamin drugs, deleting haematological shape of megaloblastic anemia.
Copper- sources, daily requirement, absorption, transportation, storage, excretion, role in enzymatic action, role in iron metabolism, role in elastin maturation, role in bone formation, copper deficiency, copper toxicity, Wilson disease, Menkes disease.
Folic acid- Chemistry, One carbon metabolism and megaloblastic anemiaNamrata Chhabra
Folic acid- Structure, forms, absorption, transportation, storage, excretion, role in one-carbon metabolism, role in methionine synthesis, role in nucleotide biosynthesis, folate trap, folate antagonists, megaloblastic anemia
Sugar derivatives and reactions of monosaccharidesNamrata Chhabra
Reactions of monosaccharides, osazone formation, reduction, oxidation, reaction with acids and alkalies, ester formation and formation of amino sugars, amino sugar acids and deoxy sugars.
Definition of ELISA, Immunochemical principle of ELISA, Direct, Indirect, Sandwich and Competitive ELISA, applications of ELISA in the diagnostic field, and benefits/drawbacks of ELISA.
Molecular biology revision-Part 3 (Regulation of genes expression and Recombi...Namrata Chhabra
Regulation of gene expression in prokaryotes and eukaryotes, Recombinant DNA technology, Southern hybridization, Northern Hybridization, Western hybridization, cloning, PCR, Applications of RDT, Animal cloning, Multiple choice questions
Case studies, enzyme inhibition, factors affecting enzyme activity, regulation of enzyme activity, Isoenzymes, classification of enzymes, coenzyme and co-factors, the clinical significance of enzymes, and the mechanism of enzyme action
Exploiting Artificial Intelligence for Empowering Researchers and Faculty, In...Dr. Vinod Kumar Kanvaria
Exploiting Artificial Intelligence for Empowering Researchers and Faculty,
International FDP on Fundamentals of Research in Social Sciences
at Integral University, Lucknow, 06.06.2024
By Dr. Vinod Kumar Kanvaria
Executive Directors Chat Leveraging AI for Diversity, Equity, and InclusionTechSoup
Let’s explore the intersection of technology and equity in the final session of our DEI series. Discover how AI tools, like ChatGPT, can be used to support and enhance your nonprofit's DEI initiatives. Participants will gain insights into practical AI applications and get tips for leveraging technology to advance their DEI goals.
How to Make a Field invisible in Odoo 17Celine George
It is possible to hide or invisible some fields in odoo. Commonly using “invisible” attribute in the field definition to invisible the fields. This slide will show how to make a field invisible in odoo 17.
Safalta Digital marketing institute in Noida, provide complete applications that encompass a huge range of virtual advertising and marketing additives, which includes search engine optimization, virtual communication advertising, pay-per-click on marketing, content material advertising, internet analytics, and greater. These university courses are designed for students who possess a comprehensive understanding of virtual marketing strategies and attributes.Safalta Digital Marketing Institute in Noida is a first choice for young individuals or students who are looking to start their careers in the field of digital advertising. The institute gives specialized courses designed and certification.
for beginners, providing thorough training in areas such as SEO, digital communication marketing, and PPC training in Noida. After finishing the program, students receive the certifications recognised by top different universitie, setting a strong foundation for a successful career in digital marketing.
This slide is special for master students (MIBS & MIFB) in UUM. Also useful for readers who are interested in the topic of contemporary Islamic banking.
A Strategic Approach: GenAI in EducationPeter Windle
Artificial Intelligence (AI) technologies such as Generative AI, Image Generators and Large Language Models have had a dramatic impact on teaching, learning and assessment over the past 18 months. The most immediate threat AI posed was to Academic Integrity with Higher Education Institutes (HEIs) focusing their efforts on combating the use of GenAI in assessment. Guidelines were developed for staff and students, policies put in place too. Innovative educators have forged paths in the use of Generative AI for teaching, learning and assessments leading to pockets of transformation springing up across HEIs, often with little or no top-down guidance, support or direction.
This Gasta posits a strategic approach to integrating AI into HEIs to prepare staff, students and the curriculum for an evolving world and workplace. We will highlight the advantages of working with these technologies beyond the realm of teaching, learning and assessment by considering prompt engineering skills, industry impact, curriculum changes, and the need for staff upskilling. In contrast, not engaging strategically with Generative AI poses risks, including falling behind peers, missed opportunities and failing to ensure our graduates remain employable. The rapid evolution of AI technologies necessitates a proactive and strategic approach if we are to remain relevant.
2024.06.01 Introducing a competency framework for languag learning materials ...Sandy Millin
http://sandymillin.wordpress.com/iateflwebinar2024
Published classroom materials form the basis of syllabuses, drive teacher professional development, and have a potentially huge influence on learners, teachers and education systems. All teachers also create their own materials, whether a few sentences on a blackboard, a highly-structured fully-realised online course, or anything in between. Despite this, the knowledge and skills needed to create effective language learning materials are rarely part of teacher training, and are mostly learnt by trial and error.
Knowledge and skills frameworks, generally called competency frameworks, for ELT teachers, trainers and managers have existed for a few years now. However, until I created one for my MA dissertation, there wasn’t one drawing together what we need to know and do to be able to effectively produce language learning materials.
This webinar will introduce you to my framework, highlighting the key competencies I identified from my research. It will also show how anybody involved in language teaching (any language, not just English!), teacher training, managing schools or developing language learning materials can benefit from using the framework.
Operation “Blue Star” is the only event in the history of Independent India where the state went into war with its own people. Even after about 40 years it is not clear if it was culmination of states anger over people of the region, a political game of power or start of dictatorial chapter in the democratic setup.
The people of Punjab felt alienated from main stream due to denial of their just demands during a long democratic struggle since independence. As it happen all over the word, it led to militant struggle with great loss of lives of military, police and civilian personnel. Killing of Indira Gandhi and massacre of innocent Sikhs in Delhi and other India cities was also associated with this movement.
1. Biochemistry Spotters
Case studies
Visuals
Spot Questions
Graphs
Biochemistry for Medics
www.namrata.co
10/28/2012 Biochemistry For Medics 1
2. Make a Diagnosis
A 29 year- old officer presented to emergency department
complaining of chills and breathing difficulty.
He was a heroin abuser who was admitted in the same
hospital 7 years ago because of drug over dosage.
He had lost 10 kg of body weight since his last clinical
visit.
On examination, he had multiple enlarged lymph nodes.
Several red nodules were present on the skin of chest and
arms.
The chest radiograph showed diffuse pneumonia.
Sputum smear revealed numerous Pneumocystis
organisms.
Skin biopsy revealed Kaposi’s sarcoma as shown in the
picture
10/28/2012 Biochemistry For Medics 2
3. Diagnosis
This is a case of HIV infection. History of drug
abuse, weight loss, typical presence of
lymphadenopathy and AIDS markers- Kaposi
sarcoma and Pneumocystis pneumonia signify HIV
infection.
10/28/2012 Biochemistry For Medics 3
4. Identify the structure and mention any
two of its important uses
10/28/2012 Biochemistry For Medics 4
5. Answer
It is Liposome, used for-
1) Drug delivery and
10/28/2012
2) Gene therapyBiochemistry For Medics 5
6. Identify the Protein and mention any two of its
important functions
10/28/2012 Biochemistry For Medics 6
7. Answer
It is a structure of collagen.
Collagen is rich in glycine,
proline and hydroxy proline
amino acids as shown in the
figure.
It is mostly found in tendons,
ligaments and skin, and is also
abundant in cornea, cartilage,
bone, blood vessels, the gut, and
intervertebral disc.
The fibroblast is the most
common cell which creates
collagen.
10/28/2012 Biochemistry For Medics 7
8. Make a Diagnosis
A 16-year-old African American girl was admitted
to the emergency room with complaints of fever
and recurrent pain in her arms and legs
Her laboratory tests revealed the following:
Hemoglobin 8.0 g/dl
Haemtocrit 9.1%
Serum Iron- 11μg/dl
Serum Albumin 4.4g/dl
10/28/2012 Biochemistry For Medics 8
9. Make a Diagnosis
Blood Smear showed target cells, poikilocytes,
hypochromasia, sickle red cells, nucleated RBCs, and Howell-
Jolly bodies
Hb Electrophoresis -showed a slow moving band.
What is the most probable diagnosis?
10/28/2012 Biochemistry For Medics 9
10. Answer
The patient is suffering from sickle cell anemia
The Sickle cell disease, also called as sickle cell
anemia is due to a single nucleotide alteration
(point mutation) in the β globin gene of
hemoglobin resulting in rigid misshapen
erythrocytes- sickle shaped erythrocytes.
Such sickled cells frequently block the flow of
blood in the narrow capillaries. The interruption in
the supply of oxygen leads to tissue anoxia, causing
pain and eventually death of cells (infarction) in the
vicinity of blockage.
10/28/2012 Biochemistry For Medics 10
11. Make a Diagnosis
A 12 –year-old girl has been brought by her
parents for consultation. She has pale skin,
blonde hair and pink iris. She is otherwise
healthy, but is unable to fix the gaze.
Parents reveal that their first two children,
a boy and a girl, had similar symptoms, but
the parents themselves are normal.
What is the most probable diagnosis?
10/28/2012 Biochemistry For Medics 11
12. Make a Diagnosis
Normal parents having two affected children, male and female, is
suggestive of Autosomal recessive inheritance of oculo-cutaneous
albinism. The baby has defect in the synthesis of melanin . Pale skin,
blonde hair and pink color of iris, are all due to the absence of
melanin. The visual impairment is also typical of albinism.
10/28/2012 Biochemistry For Medics 12
13. Make a Diagnosis
A 3-year-old child has been brought to the clinic because of
excessive exhaustion and fatigue. On further questioning of the
mother, she reports that she was previously breastfeeding but
had to stop to return to work. To feed all of her other children,
she had to dilute her formula with water to make the formula
last longer for the entire family.
10/28/2012 Biochemistry For Medics 13
14. Make a Diagnosis
The child is irritable, has starved appearance, weight is
much below for height, mid-arm muscle circumference
is 12 cm and triceps thickness is 2mm.
The creatinine-height index (the 24-h urinary creatinine
excretion compared with normal values based on
height) is low but serum Albumin is normal.
10/28/2012 Biochemistry For Medics 14
15. Answer
The child is suffering from Nutritional Marasmus.
Marasmus is a state in which virtually all available
body fat stores are exhausted due to starvation.
The given patient has starved appearance diagnostic
of Marasmus.
The low body weight, diminished skin-fold thickness
and reduced arm muscle circumference reflect the loss
of fat reserves and the catabolism of proteins
throughout the body.
The low creatinine-height index also reflects the loss
of muscle mass while the normal serum albumin
differentiates it from Kwashiorkor which is primarily
due to protein deficiency.
10/28/2012 Biochemistry For Medics 15
16. Spot Question
A 60- year- old woman presents with chest pain
radiating to her left arm. She is diagnosed with having
had a myocardial infarct and is prescribed a statin
medication. Statin is known as a Hypolipidemic drug.
What is the mechanism of action of this drug ?
10/28/2012 Biochemistry For Medics 16
17. Answer
The Statins act as competitive inhibitors of the
enzyme HMG-CoA reductase, the rate limiting
enzyme of the pathway of cholesterol
biosynthesis.
Lovastatin is a member of a class of drugs
(Atorvastatin, fluvastatin, pravastatin and
Simvastatin are others in this class) called statins
that are used to treat hypercholesterolemia.
10/28/2012 Biochemistry For Medics 17
18. Make a diagnosis
An 11-year-old girl has been brought by her
parents to the accident & emergency
department in a confused state with
symptoms of acute abdomen, respiratory
difficulty & acetone-like smell of breath. She
is a known case of Type 1 Diabetes Mellitus
but is non compliant to insulin therapy.
What is the likely diagnosis?
What is the expected outcome of urine
analysis ?
10/28/2012 Biochemistry For Medics 18
19. Answer
The girl is suffering from Diabetic ketoacidosis, the
most frequent complication of Type 1 DM.
Urine analysis is expected to reveal the presence of
glucose and ketone bodies while blood biochemistry
would reveal, hyperglycemia, metabolic acidosis, and
volume depletion due to osmotic diuresis.
10/28/2012 Biochemistry For Medics 19
20. Spot Question
The above Line weaver-Burk plot shows the mechanism of action of a
drug used for the treatment of gout. The said drug acts by inhibiting
xanthine oxidase enzyme.
Which type of inhibition is shown in the graph?
Name a similarly acting drug used for the treatment of
10/28/2012
hypertension. Biochemistry For Medics 20
21. Answer
Since the Km has increased and Vmax is constant , it is
competitive inhibition. Allopurinol acts by inhibiting Xanthine
oxidase enzyme.
Captopril, an antihypertensive drug acts similarly to
competitively inhibit, Angiotensin Converting Enzyme (ACE).
10/28/2012 Biochemistry For Medics 21
22. Make a diagnosis
A 24- year- old patient was brought to
medical OPD with acute abdominal pain,
depression and extreme weakness.
Urine analysis revealed purple color and
the presence of ALA and PBG (Delta amino
Levulinic acid and Porphobilinogen).
What is the probable diagnosis and defect
in this disease ?
10/28/2012 Biochemistry For Medics 22
23. Answer
It is a case of Acute
intermittent Porphyria.
Purple colored urine,
presence of ALA (Delta
amino levuliinic acid) and
PBG (Porphobilinogen)
and
Psychiatric symptoms
are diagnostic of Acute
intermittent Porphyria.
There is deficiency of
PBG deaminase enzyme
(Porphobilinogen
deaminase)
10/28/2012 Biochemistry For Medics 23
24. Spot Question
State at least 2 metabolic complications of obesity and give the
reason for obesity upon excessive carbohydrate consumption.
10/28/2012 Biochemistry For Medics 24
25. Obesity Obesity is associated
with hypertension,
dyslipidemia, insulin
resistance, diabetes
mellitus, IHD and gall
bladder disease.
Excessive carbohydrate
consumption provides
glycerol and Acetyl co A
through formation of
Pyruvate from Glucose
and NADPH through
HMP pathway. This
helps in fatty acid
biosynthesis and more
formation of
10/28/2012 Biochemistry For Medics triglycerides. 25
26. Spot Question
Name two chief nutrients of milk and state the
reason for milk intolerance in certain individuals.
10/28/2012 Biochemistry For Medics 26
27. Answer
The important
components of milk are
lactose as milk sugar,
casein, lactalbumin and
lactglobulins as milk
proteins. The average
distribution of
nutrients is- 87.7%
water, 4.9% lactose
(carbohydrate), 3.4%
fat, 3.3% protein, and
0.7% minerals.
Milk intolerance (Lactose intolerance) occurs due to deficiency of
lactase enzyme, there is inability to digest lactose and the
10/28/2012 associated symptoms are due to accumulated lactose .
Biochemistry For Medics 27
28. Spot Question
Based on the findings in the peripheral blood film, the patient
has been diagnosed with megaloblastic anemia. Name at least
two vitamins known to cause megaloblastic anemia
10/28/2012 Biochemistry For Medics 28
29. Answer
Megaloblastic anemia is observed in vitamin B12 and
folic acid deficiencies.
Macrocytes are observed and some of the red blood
cells show ovalocytosis. A 6-lobed polymorph nuclear
leucocyte is present.
Oval macrocytes, usually with considerable
anisocytosis and poikilocytosis, are the main feature.
The MCV is usually >100 fL unless a cause of
microcytosis (e.g., iron deficiency or thalassemia trait) is
present.
10/28/2012 Biochemistry For Medics 29
30. Make a diagnosis
A 1-year-old girl is brought to her
pediatrician’s office with concerns about
her development. She had an
uncomplicated birth.
The mother reports that the baby is not
achieving the normal milestones for a baby
of her age.
She also reports an unusual odor to her
urine and some areas of hypo pigmentation
on her skin and hair.
10/28/2012 Biochemistry For Medics 30
31. Make a diagnosis
On exam, the girl is noted to have some muscle
hypotonia and microcephaly. The urine collected is
found to have a “mousy” odor.
What is the most likely diagnosis?
What is the biochemical basis of the hypo
pigmented skin and hair?
10/28/2012 Biochemistry For Medics 31
32. Answer
Likely diagnosis-
Phenyl ketonuria
Biochemical defect-
Deficiency of phenyl
alanine hydroxylase
Biochemical basis
of
hypopigmentation:
Phenylalanine is
competitive
inhibitor of
tyrosinase (key
enzyme in melanin
synthesis)
10/28/2012 Biochemistry For Medics 32
33. Spot Question
A 37-year-old female presents to your clinic to
discuss her plans for a new vegetarian diet.
The patient heard from a friend about a new
vegetarian diet that promised rapid weight loss.
The diet consists of many leafy vegetables with
no pork, chicken, beef, eggs, or milk.
She is also planning on working out regularly
with the goal of running a marathon within the
year.
After listening to the patient, you refer her to a
nutritionist for further assistance and guidance
10/28/2012 Biochemistry For Medics 33
34. Spot Question
What is an essential amino acid, and how many
are there? List the essential amino acids.
10/28/2012 34
Biochemistry For Medics
35. Answer
Essential amino acids: The amino acids that cannot
be synthesized by the body. There are a total of ten
essential amino acids.
List of essential amino acids: Isoleucine, leucine,
lysine, Methionine, Phenylalanine, Threonine,
Tryptophan, and Valine
Histidine and Arginine are semi essential amino
acids, that can be synthesized but their demand
increases during growth, repair and reproduction.
10/28/2012 Biochemistry For Medics 35