Search results for "Genetic testing"
ACG updates, reaffirms guidelines on evaluation, management of patients with celiac disease
The diagnostic approach to celiac disease in adults using serological and histologic data remains unchanged from the American College of Gastroenterology's (ACG) 2013 clinical guidelines.
https://immattersacp.org/weekly/archives/2023/01/17/1.htm
17 Jan 2023
Latest updates on ACP's priorities, initiatives
ACP Spotlight offers readers a look at ACP's current top priorities and initiatives, as well as highlights from our e-newsletter, ACP Internist Weekly.
https://immattersacp.org/archives/2019/02/latest-updates-on-acps-priorities-initiatives.htm
1 Feb 2019
MKSAP Quiz: Familial screening for hypertrophic cardiomyopathy
A 56-year-old man is being evaluated after his 18-year-old son had a syncopal episode during a high school basketball game and was diagnosed with hypertrophic cardiomyopathy (HCM). The patient has had no symptoms, including with physical activity such as golfing or playing tennis. Findings of a comprehensive physical examination are unremarkable. An electrocardiogram and echocardiogram are normal, with no evidence of HCM. When should this patient next be screened for HCM?
https://immattersacp.org/weekly/archives/2018/06/19/3.htm
19 Jun 2018
MKSAP Quiz: Frequently fluctuating INRs
A 77-year-old woman is evaluated for frequently fluctuating INRs (<1.8 to >3.5) while taking warfarin therapy. She has undergone INR testing every 1 to 2 weeks and frequent warfarin dose adjustments. She reports a consistent dietary intake. Following a physical exam, what is the most appropriate next step in management?
https://immattersacp.org/weekly/archives/2018/05/01/3.htm
1 May 2018
MKSAP Quiz: Follow-up visit for ovarian cancer
A 62-year-old woman is evaluated during a follow-up visit for recently diagnosed stage IIIA high-grade serous ovarian cancer. She underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy and completed six cycles of chemotherapy with cisplatin and paclitaxel. The patient's paternal aunt was diagnosed with breast cancer at age 52 years. Following a physical exam and lab studies, what is the most appropriate test to perform next?
https://immattersacp.org/weekly/archives/2019/01/29/3.htm
29 Jan 2019
Five Choosing Wisely recommendations on ordering genetic tests offered
Duplicate genetic tests and apolipoprotein E genetic testing as a predictive test for Alzheimer's disease are just 2 of the “do nots.”
https://immattersacp.org/weekly/archives/2015/07/21/5.htm
21 Jul 2015
MKSAP Quiz: Intermittent rectal bleeding of 3 months' duration
A 46-year-old man is evaluated for intermittent rectal bleeding of 3 months' duration. Colonoscopy finds 12 polyps, and genetic testing reveals biallelic mutations in the MYH gene. What is the most cost-effective approach to determining if the patient's children have inherited MYH-associated polyposis?
https://immattersacp.org/weekly/archives/2018/04/03/3.htm
3 Apr 2018
Whole-genome sequencing finds rare genetic disease risk in 1 of 5 healthy adults
While some primary care physicians may be able to manage genomic information appropriately, findings could prompt increased health care use with limited clinical value, the researchers said.
https://immattersacp.org/weekly/archives/2017/06/27/2.htm
27 Jun 2017
MKSAP Quiz: 8-year history of joint pain
A 50-year-old man is evaluated for an 8-year history of joint pain, particularly in the hands, and progressively worsening fatigue. Medical history is otherwise unremarkable. He takes ibuprofen as needed. There are swelling and tenderness of the second and third metacarpophalangeal (MCP) joints bilaterally, and tenderness but no swelling of the fourth and fifth MCP joints bilaterally. There is bony hypertrophy of the first MCP joints and knees bilaterally. The proximal interphalangeal joints and wrists are normal. Following a physical exam, lab studies, and a radiograph, what is the most appropriate diagnostic test to perform next?
https://immattersacp.org/archives/2017/05/mksap.htm
1 May 2017
MKSAP Quiz: 2-year history of fatigue, low libido
A 34-year-old man is evaluated for a 2-year history of fatigue, low libido, and infertility. His family history is notable for a brother with infertility. His medical history is unremarkable, and he takes no medications. Following a physical exam and lab results, what is the most appropriate diagnostic test to perform next?
https://immattersacp.org/weekly/archives/2016/11/01/3.htm
1 Nov 2016