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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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PEMPix 2023 Online Case 2: Walk Softly

PEMBlog

PEMPix is the American Academy of Pediatrics Section on Emergency Medicine’s annual visual diagnosis competition. She was seen at an urgent care the day prior to presentation, diagnosed with a viral exanthem, and discharged with oral prednisone. The diagnosis can be made clinically. This is the second of the four cases.

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PEMPix 2023 Online Case 1: A House Divided

PEMBlog

PEMPix is the American Academy of Pediatrics Section on Emergency Medicine’s annual visual diagnosis competition. She was diagnosed with constipation. The patient was diagnosed with OHVIRA syndrome: O bstructed H emi v agina with I psilateral R enal A nomaly (aka Heryln-Wener-Wunderlch syndrome).

PCP 69
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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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Prescribing Red Flags and Suspicious Controlled Substance Orders: Current Cautionary Tales

FDA Law Blog

11, 2023 ( DOJ Press Release ). 6, 2023 ( DOJ Press Release ). Prescriptions Containing No Diagnosis or Intended Use Controlled substance prescriptions issued with a non-specific diagnosis or no diagnosis. Several weeks later, also based on ability to pay, the U.S. 21 U.S.C. § 829; 21 C.F.R. Holiday CVS, 77 Fed.

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The Mycoplasma Comeback: Why This Atypical Pneumonia is Back – A PEMCurrents Podcast

PEMBlog

Laboratory diagnosis and treatment of Mycoplasma pneumoniae infection in children: a review. In this episode we dive into the resurgence of Mycoplasma pneumoniae an atypical bacterial cause of community-acquired pneumonia thats making waves in pediatric emergency medicine. Plus, well discuss whether M. Plus, well discuss whether M.

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More than the rule of 2s: All about Meckel Diverticulum

PEMBlog

STAT Pearls, 2023 Wrap Up Meckel diverticulum is a congenital anomaly of the small intestine that can present with various clinical manifestations, including rectal bleeding and obstruction. It arises from incomplete involution of the vitelline duct during embryonic development, typically occurring by the 7th week of gestation.