Rare Diseases
News
The urgent need to diagnose Sanfilippo syndrome at an early age
The quest for effective treatments is dependent on enrolling more children at a very young age, before loss of milestones.
News
Staying alert for patients with narcolepsy
The chronic neurologic disorder entails not only excessive sleepiness but also social and professional challenges.
News
Myasthenia gravis: Finding strength in treatment options
Although treatment might have once been considered stagnant, newer expert consensus and novel research are generating optimism for innovative...
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Combination of energy-based treatments found to improve Becker’s nevi
The study is the largest known case series of therapy combining 1,550-nm nonablative fractional resurfacing for patients with Becker’s nevus with...
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With sleuth work, pediatricians can identify genetic disorders
For pediatricians, the process of deciding whether to refer a patient to a geneticist may entail ruling out nongenetic causes, considering patient...
From the Journals
IVIG proves effective for dermatomyositis in phase 3 trial
Prior to this trial, intravenous immune globulin had not been fully studied for the treatment of dermatomyositis.
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Lasker awardee pioneered prenatal DNA testing
With the commercial launch of noninvasive prenatal testing in 2011, health care centers around the world quickly embraced the technology as a safe...
News
ALS drug gets FDA panel thumbs-up after rare second look
FDA officials in the meeting stressed the importance of considering unmet medical need in ALS in the panel’s decision-making process.
Feature
Increasing primary care doctors’ knowledge of IPF could speed up diagnoses, suggests white paper
Nonspecific symptoms of IPF may prompt primary care providers to pursue other assessment pathways.
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Shift in child hospice care is a lifeline for parents seeking a measure of comfort and hope
Under a provision of the 2010 Affordable Care Act, children enrolled in Medicaid or the Children’s Health Insurance...
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Uncombable hair syndrome: One gene, variants responsible for many cases
A deficiency in the shaping and mechanical strengthening of the hair shaft occurs in the UHS phenotype, which is characterized by dry, frizzy, and...