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Rare Diseases: Pathways to accelerating diagnoses 

Myriad Genetics

Recently, the Today Show highlighted Courtney (she asked that only first names be used), who visited 17 different doctors over three years to help diagnose her young son Alex, who she was watching suffer and decline before her eyes. Barriers to Rare Disease Diagnosis, Care and Treatment in the US: A 30-year Comparative Analysis.

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Hepatitis C Micro-elimination Using Patient Navigation In a Regional Healthcare System [Infectious diseases (not respiratory tract)]

Annals of Family Medicine

Micro-elimination projects aim to selectively foster diagnosis, treatment and reinfection of high priority demographic groups. were on Medicaid insurance when diagnosed. Context: Hepatitis C virus (HCV) disproportionately impacts persons with substance use and mental health disorders within the United States. Among new patients, 58.9%

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Migraine headaches: diagnostic and treatment tips

Common Sense Family Doctor

A retrospective analysis of characteristics of 15 consecutive years of code stroke cases at a hospital in Barcelona, Spain, found that patients who were ultimately diagnosed with migraine headache with aura (1.1%) were more likely to be younger, female, and have fewer vascular risk factors than patients with ischemic strokes.

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Prescribing Red Flags and Suspicious Controlled Substance Orders: Current Cautionary Tales

FDA Law Blog

11, 2023 ( DOJ Press Release ). 6, 2023 ( DOJ Press Release ). Pharmacists’ Corresponding Responsibility A controlled substance prescription, to be valid, must be issued for “a legitimate medical purpose by an individual practitioner acting in the usual course of [their] professional practice.” Zarzamora Press Release.

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AMPLIFY™ Technology Enhances Prenatal Screening for 22q11.2 Microdeletion

Myriad Genetics

Typically, the way to diagnose 22q prenatally is through chorionic villus sampling or an amniocentesis. Published 2023 Jan 6. Prenatal Diagnosis. Prenatal diagnosis of the 22q11.2 Such is the case with the 22q11.2 microdeletion syndrome, a relatively common and potentially serious chromosomal abnormality. Microdeletions. 

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PEMPix 2023 Online Case 3: The Only Thing We Have to Fear

PEMBlog

PEMPix is the American Academy of Pediatrics Section on Emergency Medicine’s annual visual diagnosis competition. No medication exposures. Neonatal Toxic Shock Syndrome-Like Exanthematous Disease The patient was diagnosed with Neonatal Toxic Shock Syndrome-Like Exanthematous Disease (NTED). 2023; 40( 2): 349- 351.

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You don’t need labs to medically clear a psych patient

PEMBlog

When should the emergency physician obtain lab tests to medically clear such patients? Also, while evidence for lab evaluation based on history and exam findings was established for adults, children were considered to have a medical etiology (organic psychosis) until proven otherwise. Acute onset psychosis is relatively rare.