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Make the Diagnosis: Fall 2020
KD is a 14-year-old female with no prior medical history who presents to your outpatient office with a 6-month history of generalized abdominal pain that has been increasing in frequency over time.
Study Uses Polygenic Risk Scores to Determine Schizophrenia Risk in 22q11.2DS
A new study involving CHOP researchers looked at genetic variants across the genome to determine risk levels for developing schizophrenia in patients with 22q11.2DS.
Meet Stacey Drant, MD — One of the Cardiac Center’s Newest Team Members
Attending cardiologist Dr. Drant talks about a new connective tissue disorders program she’s developing and the role of lifestyle in cardiac health.
Get to Know Dr. Nuri, Surgical Director of the New Topolewski Pediatric Heart Valve Center
Muhammad Nuri, MBBS, talks breakthroughs — the ones he’s made and the ones he looks forward to.
Remote Learning and Stress Injuries
CHOP orthopaedic surgeon Dr. Ganley talks to NBC News about how remote learning can contribute to repetitive stress injuries in kids.
A Comprehensive Approach to Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann syndrome (BWS) is a complex multisystem overgrowth and cancer predisposition disorder that affects about 1 in 10,000 live births.
Follow-Up Corner: Moving Toward Earlier Diagnosis of Cerebral Palsy
Historically, the diagnosis of cerebral palsy (CP) occurs at ~ 18 months of age. The current endeavor seeks to identify CP as early as 3 months of age and certainly before 6 months corrected age.
What Are the Chances Our Next Child Will Have HI?
When a family has a child with congenital hyperinsulinism, a question often arises: Will any future child also have HI?
CHOP Doctor Co-authors New Anti-inflammatory Family Cookbook
CHOP Gastroenterologist Maria Mascarenhas, MBBS, co-authors anti-inflammatory cookbook for families of healthy children and those who have IBD, obesity and other conditions.
‘Thickening’ Is Clue to Acute Food Protein-Induced Enterocolitis Diagnosis
Owen’s diagnosis is not clear from the original history. The top two concerns would be infection/sepsis/gastroenteritis and/or structural abnormality. However, keeping in mind broader differential is key.