Setting: A free medical clinic that provides health care for the under-insured.
Your next patient, Michelle G., age 40, is a regular of the clinic and the last patient of the day. The chart states she is here for recent episodes of shortness of breath.
You enter the room and Michelle G is dressed in work clothes, standing up looking at a health poster on the wall. You introduce yourself and ask her what brings her to the clinic today. “I think I may have a cold. I’ve been having a hard time breathing on and off lately.”
HPI: “I notice I’m short of breath mostly at work but by the time I get home feel fine. No episodes of shortness of breath on the weekends that I can recall. But a few hours back at work and I start to feel like I cannot catch my breath again. A few months ago this happened and it was so bad I left work and went to urgent care where they gave me a breathing treatment of some kind and sent me home on an antibiotic. I would like you to give me another antibiotic. She denies sputum. No new allergy triggers noted. She denies heartburn.
PMHx: Michelle G. reports her overall health as good.
Childhood/previous illnesses: eczema as a child
Chronic illnesses: Has seasonal allergies, spring is her worst season. Was seen by an allergy specialist ten years ago, Took allergy shots for five years with great results, now only takes Zyrtec when needed.
Surgeries: Cholecystectomy
Hospitalizations: childbirth x 3.
Immunizations: up-to-date on all vaccinations.
Allergies: Strawberries-Rash; erythromycin- severe GI upset.
Blood transfusions: none
Drinks alcohol socially, smoked 1 pack per week for 3 years in her 20’s. Denies illicit drug use.
Sleeps 6 to 7 hours a night. Exercises four to five days per week.
Current medications: Multivitamin, Zyrtec
Social History: Married, lives with husband and 3 children. Worked in advertising up until 18 months ago when she got laid off. In order to help with the household finances she took a job as a Baker’s assistant at an Artisan Bread Bakery. She arrives at 4 a.m. every morning to begin baking breads/pastries for the day.
Family History: Children are healthy- daughter currently has a sinus infection. Parents are deceased. Mother at age 80 from congestive heart failure. Father died at age 82 from lung cancer, diagnosed when metastasized to brain. PGM: died from unknown causes, PGF: Stroke at age 82. MGM: died at 83, had HTN, atherosclerosis and many heart attacks. PGF: died at 71 from complications of COPD.
PE: Height 5’10”, Weight 140 pounds
Vital signs : BP 130/70, T 98.0, P 75, R 18 Sao2 98% on RA
General: 40-year-old Caucasian female appears stated age in no apparent distress. Alert, oriented, and cooperative. Able to speak in full sentences and does not appear breathless. Skin: Skin warm, dry, and intact. Skin color is pale pink, no cyanosis or pallor.
HEENT: Head normo-cephalic. Hair thick and distribution even throughout scalp.
Eyes: Sclera clear. Conjunctiva: white, PERRLA, EOMs intact.
Ears: Tympanic membranes gray and intact with light reflex noted. Pinna and tragus non-tender
Nose: Nares patent with thin white exudate noted. Mucosa appears boggy and pale. Deviated septum noted. Sinuses non-tender to palpation.
Throat: Oropharynx pink, moist, no lesions or exudate. Tonsils 1+ bilaterally. Teeth in good repair, no cavities noted. Tongue smooth, pink, no lesions, protrudes in midline. Neck supple. No cervical lymphadenopathy or tenderness noted. Thyroid midline, small and firm without palpable masses.
Lungs: Lungs clear to auscultation bilaterally. Respirations unlabored. Slight wheezing noted inspiration and on forced expiration. Wheezing does not clear with forced cough.
CV: Heart S1 and S2 noted, RRR, no murmurs noted, no displaced PMI. Peripheral pulses equal bilaterally, no peripheral edema
Abdomen: Abdomen round, soft, with bowel sounds noted in all four quadrants. No organo-megaly noted.
Diagnostic Testing:
1. What is your primary diagnosis for Michelle given the pattern of occurrence of symptoms, exam results, and recent history? Include the rationale and a reference for your diagnoses.
2. What is your first-line treatment plan for Michelle including medications, labs, education, referrals, and follow-up? Identify the drug class of each medication you prescribe and exactly what symptom it is targeted to address.
3. Address Michelle’s request for an antibiotic.
ratively, the common CYP2C19*2 allele has as of late been associated with reduction in the metabolism of active clopidogrel, bringing about higher on-treatment platelet aggregation when compared with noncarriers and adverse clinical results in certain clopidogrel-treated cardiovascular patient populations (Shuldiner et al., 2009; Mega et al.,2010).
Notwithstanding the CYP450 qualities, other polymorphic medication metabolism enzymes and their clinically substrates include, UDP-glucuronosyltranserase (UGT1A1; irinotecan), dihydropyrimidine dehydrogenase (DPD fluorouracil), and thiopurine S-methyltranserase (TPMT; thiopurines), among others. Nevertheless, drug efficacy is not influenced only by genetic variation in the genes that are responsible for drug metabolism. Polymorphisms in genes that encode drug targets and drug transporters have likewise been appeared to alter drug response. With an end goal to summarize and organize data on these critical pharmacogenetic genes and their variations, several organizations have curated pharmacogenetic genes records based on relevant literatures such as PharmaADME ‘Core Gene List’ (http://www.pharmaadme.org/) and the more thorough ‘Very Important Pharmacogene’ summaries compiled by the Pharmacogenomics Knowledge Base (PharmGKB; http://www.pharmgkb.org), which are published regularly in the journal Pharmacogenetics and Genomics (Stuart, 2011).
3.2 PHARMACOGENOMICS
The proceeded with identification of sequence variants, relevant genes, and associated drug response phenotypes is confirmed by the paralleled increment in pharmacogenetics literature, especially in connection to the completion of the Human Genome Project (Fig. 1). The accessibility of genome-wide sequence information around then additionally propelled the related field of “pharmacogenomics” (Fig. 1). Albeit as often as possible utilized conversely, pharmacogenetics is regularly viewed as ‘the study of drug response in relation to specific genes, though pharmacogenomics is ‘the study of drug response in relation to the genome’. The huge advances in genotyping