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Acta Endocrinologica (Bucharest,... 2021Thyroid hormone resistance (RTH) is defined as a decrease in response to thyroid hormones in the target tissue. Most patients present with nonspecific findings. In this...
BACKGROUND
Thyroid hormone resistance (RTH) is defined as a decrease in response to thyroid hormones in the target tissue. Most patients present with nonspecific findings. In this article, we aimed to represent a 22-year-old female patient who presented with palpitation, fatigue, and heat intolerance. She was thought to have thyroid hormone resistance and her genetic examination revealed NM_001128177.1 (THRβ): c.1034G > A (p.Gly345Asp) pathogenic variation in the THRβ gene.
CASE REPORT
A 22-year-old female patient presented with complaints of fatigue, heat intolerance and palpitations. She was taking Propranolol twice daily at admission. Her family history revealed hypothyroidism in her grandmother. Her physical examination results were as follows: height 160 cm, weight 65 kg, body mass index 25.4kg/m, body temperature 36.5°C, respiratory rate 18/min, heart rate 86 beats/min, blood pressure 120/80 mmHg. Her palms were sweaty. The heart sounds were normal, and no heart murmur was auscultated. The laboratory results were TSH: 5.31uU/mL, fT3: 6.83 pg/mL, and fT4: 2.43 ng/dL. THRβ gene mutation analysis was requested for our patient whose clinical history and laboratory results were compatible with thyroid hormone resistance. The pathogenic variation NM_001128177.1(THRβ):c.1034G>A (p.Gly345Asp) was detected after analysis.
CONCLUSION
A diagnosis of RTH requires high clinical suspicion and a genetic mutation analysis should be requested in the case of clinical suspicion. In this way, unnecessary anti-thyroid treatment can be prevented.
PubMed: 35344314
DOI: 10.4183/aeb.2021.388 -
BMJ Case Reports Dec 2019
Topics: Aged; Dyspnea; Female; Heart Auscultation; Humans; Lupus Erythematosus, Systemic; Pericarditis; Phonocardiography
PubMed: 31892628
DOI: 10.1136/bcr-2019-233546 -
JAMA Cardiology Jul 2022
Topics: Auscultation; Humans; Stethoscopes
PubMed: 35475987
DOI: 10.1001/jamacardio.2022.0656 -
JAMA Cardiology Jan 2023
Topics: Humans; Blood Pressure Determination; Auscultation
PubMed: 36416804
DOI: 10.1001/jamacardio.2022.4243 -
Internal Medicine Journal Dec 2022Previous research suggested cardiac auscultation is underdeveloped in physicians-in-training. Developing proficiency requires wide exposure to signs, practice and...
Previous research suggested cardiac auscultation is underdeveloped in physicians-in-training. Developing proficiency requires wide exposure to signs, practice and feedback, which may not regularly occur in clinical environments. Our novel pilot study using a mixed-methods approach (n = 9) suggests chatbot-mediated learning of cardiac auscultation is accessible and possesses unique advantages, including immediate feedback, helping in the management of cognitive overload and facilitating deliberate practice.
Topics: Humans; Heart Auscultation; Pilot Projects; Clinical Competence; Educational Measurement
PubMed: 37133367
DOI: 10.1111/imj.15971 -
Academic Medicine : Journal of the... Jul 2021
PubMed: 33883394
DOI: 10.1097/ACM.0000000000004125 -
American Heart Journal Jan 2023Before Laennec, respiratory diseases that we recognize today were often confused, because the heart and lung are locked inside the rib cage. Impressed by the autopsies...
Before Laennec, respiratory diseases that we recognize today were often confused, because the heart and lung are locked inside the rib cage. Impressed by the autopsies performed by Xavier Bichat (1771-1802), Laennec maintained the importance of the anatomoclinical method. But he indicated in his early 1820s lectures at the Collège de France that the discovery of auscultation was fortuitous and empirical. Duffin demonstrates that medical discoveries hardly obey an implacable logic, they arise outside of pre-established projects. In this paper, we retrace the chronology and antecedents at the origin of the important medical invention that is the stethoscope.
Topics: Humans; Auscultation; Stethoscopes; France
PubMed: 36257468
DOI: 10.1016/j.ahj.2022.10.076 -
Laryngo- Rhino- Otologie Feb 2023
Topics: Adult; Child; Humans; Hearing Loss; Deafness; Auscultation; Learning; Language
PubMed: 36750109
DOI: 10.1055/a-1991-4469 -
Pediatric Pulmonology Feb 2021
Topics: Animals; Auscultation; Child; Humans; Perches; Pneumonia; Radiography; Stethoscopes
PubMed: 33333631
DOI: 10.1002/ppul.25210