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1.
Am J Med Genet C Semin Med Genet ; 187(2): 168-172, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33982378

RESUMO

We report two prints (a woodcut from the 17th century and an engraving from the 18th century) that likely show individuals with PIK3CA-Related Overgrowth Spectrum (PROS). These prints are likely the earliest known depictions of this complex condition.


Assuntos
Mutação , Classe I de Fosfatidilinositol 3-Quinases/genética , Feminino , Humanos
2.
South Med J ; 111(7): 424-433, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29978229

RESUMO

Point-of-care ultrasound (POCUS) is used increasingly in resource-limited settings (RLSs), particularly as inexpensive ultrasound machines and evidence-based protocols become more available. POCUS often is the only imaging modality available in such settings, and it has the potential to significantly affect patient care. This article discusses four case-based reviews of POCUS in RLSs for several common diseases: pediatric pneumonia; extrapulmonary tuberculosis; ectopic pregnancy; and tropical parasitic diseases, including echinococcus, schistosomiasis, and amebiasis. It concludes with a discussion of the logistical considerations specific to implementing POCUS in RLSs, particularly equipment and training. The literature reviewed suggests that POCUS has the potential to improve the diagnosis and management of multiple conditions in RLSs, although further research is needed.


Assuntos
Sistemas Automatizados de Assistência Junto ao Leito , Ultrassonografia/métodos , Adulto , Feminino , Recursos em Saúde , Humanos , Lactente , Masculino , Doenças Parasitárias/diagnóstico por imagem , Pneumonia/diagnóstico por imagem , Gravidez , Gravidez Ectópica/diagnóstico por imagem , Tuberculose/diagnóstico por imagem
3.
POCUS J ; 8(1): 9-12, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37152338

RESUMO

Point of Care Ultrasound (POCUS) is a growing diagnostic modality across a variety of specialties and is increasingly being taught in undergraduate medical education. Uptake within internal medicine has been slow but is becoming more commonplace. Training of extant hospital medicine faculty, including senior members, in POCUS is an unmet need in graduate medical education with significant pedagogical and patient safety implications. With this in mind, we created a training program for the core teaching faculty at our academic internal medicine residency program. The experiential, hands-on curriculum explored the reasoning behind concepts and emphasized psychological safety for senior faculty learners and was successful and well-received. In our piece, we aim to explore the existing literature around training this unique population in POCUS and report on our single-center experience. We also provide a framework for how our program succeeded, collate tips derived from the expert ultrasound teachers and list pearls learned while teaching these experienced educators. Although this worthwhile effort requires planning and support, it was appreciated even by senior faculty.

4.
POCUS J ; 8(2): 175-183, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38099168

RESUMO

Background: Chest imaging, including chest X-ray (CXR) and computed tomography (CT), can be a helpful adjunct to nucleic acid test (NAT) in the diagnosis and management of Coronavirus Disease 2019 (COVID-19). Lung point of care ultrasound (POCUS), particularly with handheld devices, is an imaging alternative that is rapid, highly portable, and more accessible in low-resource settings. A standardized POCUS scanning protocol has been proposed to assess the severity of COVID-19 pneumonia, but it has not been sufficiently validated to assess diagnostic accuracy for COVID-19 pneumonia. Purpose: To assess the diagnostic performance of a standardized lung POCUS protocol using a handheld POCUS device to detect patients with either a positive NAT or a COVID-19-typical pattern on CT scan. Methods: Adult inpatients with confirmed or suspected COVID-19 and a recent CT were recruited from April to July 2020. Twelve lung zones were scanned with a handheld POCUS machine. Images were reviewed independently by blinded experts and scored according to the proposed protocol. Patients were divided into low, intermediate, and high suspicion based on their POCUS score. Results: Of 79 subjects, 26.6% had a positive NAT and 31.6% had a typical CT pattern. The receiver operator curve for POCUS had an area under the curve (AUC) of 0.787 for positive NAT and 0.820 for a typical CT. Using a two-point cutoff system, POCUS had a sensitivity of 0.90 and 1.00 compared to NAT and typical CT pattern, respectively, at the lower cutoff; it had a specificity of 0.90 and 0.89 compared to NAT and typical CT pattern at the higher cutoff, respectively. Conclusions: The proposed lung POCUS protocol with a handheld device showed reasonable diagnostic performance to detect inpatients with a positive NAT or typical CT pattern for COVID-19. Particularly in low-resource settings, POCUS with handheld devices may serve as a helpful adjunct for persons under investigation for COVID-19 pneumonia.

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