Phenylkenoturia

Disease Based Writing Intensive Assignment

for MDLS 4148, Medical Genetics, Class 86

Due date: 2/18/2021 at 10 am

Each student will prepare a 5-6 page (double-spaced; Arial fond 10 with 5-6 references; any images additional to page minimum) Review Article on a specific genetic disorder Phenylketonuria (PKU). Each paper will be required to contain the following elements

Sections I-VI as shown below.

I. Background/overview/bullet points of the gene/gene products/disease (5 points max)

II. Pathophysiology (8 points max)

III. Diagnosis (8 points max)

IV. Etiology (Genetics/Molecular bases) (8 points max)

V. Management and treatments (8 points max)

VI. Other (8 points max)

1. References using Lab Medicine (www.labmedicine.com, https://academic.oup.com/labmed ) format

2. Use Arial 10-point font, double-spaced in 8x11 paper

3. Electronic copy submission to canvas assignment by the deadline. Late submissions will not be accepted.

4. Academic dishonesty will be addressed and each person in the group is responsible to the integrity of the entire submission.

Total 40% of the grade will be based on the following criteria:

The grades are measured with faculties based on Cavas Turnitin program (must be in less than 20% of similarities for all color coded shade area) and on rubrics of submitted paper

1. Quality of paper submitted (32% of total grade)

· Is the overall format consistent with requirements?

· Are grammar and syntax appropriate to a sophisticated pathology audience?

· Does the Disease review make sense and flow in an appropriate fashion to adequately review the assigned disease?

· Have major laboratory tests (including molecular testing) been omitted that would have better supported the diagnosis?

2. The other (8% of total grade):

· The understanding and usage of reference/citation material to support the writing

· The grammar, syntax, and the sense and flow,

Deadline of turn in paper: 2/18/2021 at 10 am

Supporting Information

MDLS 4148 Spring 2021 Class 86 01-13-2021

Definition and the terminology – A guide in intensive-writing

I. Overview/Background

a. Gene or chromosomal involvement

b. Gene profile:

i. Gene name

ii. Protein name

iii. Chromosomal location

iv. Mutation types (del, ins, dup, trans, snp, etc)

v. Incidence rate, population or age prevalence etc.

II. Pathophysiology

a. The branch of science concerned with the functioning of organisms is physiology

b. The physiology of abnormal or diseased organisms or their parts; the functional changes associated with a disease or syndrome.

III. Diagnosis

a. The act or process of identifying or determining the nature and cause of a disease or injury through evaluation of patient history, examination, and review of laboratory data.

b. The opinion derived from such an evaluation.

c. Classic diagnostics: enzyme assay, EIA, Histology assay, microscopic,

d. Molecular assays: PCR, array, Sequencing, Blotting etc

IV. Etiology

a. The branch of medicine that deals with the causes or origins of disease.

b. Etiology is the study of causation, or origination. "giving a reason for”.

c. Describe clearly the structural or number abnormality of chromosome, the base/sequence number

d. Example: a three base-pair deletion in exon 10 of the CFTR gene results in the omission of phenylalanine at position 508 in the 1480 amino acid chain., Example 2: sickle cell anemia HbS/HbSS, a single nucleotide change from A to T in the globin gene B gene in chromosomal 11 etc.)

V. Management and prognosis

a. Treatment: drug, surgery, genetic consoling, follow-up etc.

b. A prediction of the course or outcome of a disease or disorder

b. The chances of recovery from a disease

Grading Rubrics of Submission (40 points maximum)

	Points available
Points	0	1	2	3	4	5	6	7	8
I.Background/overview (max. 5 points)	0	1	2	3	4	5
II. Pathophysiology (max. 8 points)	0	1	2	3	4	5	6	7	8
III.Diagnosis (max. 8 points)	0	1	2	3	4	5	6	7	8
IV.Etiology (max. 8 points)	0	1	2	3	4	5	6	7	8
V.Management, treatment and prognosis (max. 3 points)	0	1	2	3
VI. Others: (max 8 points)
Reference (max. 1 point)	0	1
Turnitin check (max. 5 points)	0	1	2	3	4	5
Sense and Flow (max. 2 points)	0	1	2

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