Treatable Genetic Disorders, Part 01
From July 2020, Ron Weasley Had a VolvulusIn 2010, the NY times wrote an article entitled, “Is the Human Genome Project a Success or Failure: A Decade Later, Genetic Map Yields Few New Cures.” In the article, there was criticism that the human genome project amounted to little practical use. The last several years have proven that this …
21min 20Natasha Shur MD and Solomon Behar, MD
Treatable Genetic Disorders, Part 02
From July 2020, Ron Weasley Had a VolvulusIn 2010, the NY times wrote an article entitled, “Is the Human Genome Project a Success or Failure: A Decade Later, Genetic Map Yields Few New Cures.” In the article, there was criticism that the human genome project amounted to little practical use. The last several years have proven that this …
13minNatasha Shur MD and Solomon Behar, MD
Introduction: Muscular Dystrophy
From March 2016, Trippin' In Vegas!Miz and Sol review a case of a young boy with elevated transaminases, cognitive and motor delay who has Duchenne’s muscular dystrophy. Elevated creatine kinase (CK) can help distinguish between a muscle and liver source of transaminitis. We review the natural history of Duchenne and Becker muscular …
11min 49Mizuho Morrison, DO and Solomon Behar, MD
Down Syndrome
From March 2016, Trippin' In Vegas!Down syndrome is a genetic condition affecting multiple systems of the body. We review the 2011 AAP Health Supervision Guidelines for children with Down syndrome, breaking it down from prenatal diagnosis to system-based healthcare check-up needs. •
26min 45Solomon Behar, MD and Stuart Swadron, MD, FAAEM
Introduction: Hypothyroidism Concomitant with Down's Syndrome
From January 2016, Shake n Bake ShortiesChildren with Down’s syndrome can have multiple underlying co-morbidities, thus need to be considered a special population when they present clinically. Hypothyroidism associated pleural effusions and pericardial effusions is one such example. In this case, Sol and Miz discuss special …
6min 26Solomon Behar, MD and Mizuho Morrison, DO
Updates in Cystic Fibrosis - Part 2
From December 2015, Rheum for the Holidays!Cystic fibrosis is a complicated disease process which can be challenging to manage. As pediatricians our role is to optimize their care, nutrition, and pulmonary therapies. Dr.Keens discusses advances in CF diagnosis and management including the latest in CFTR modulater therapies.
17min 13Thomas Keens, MD and Solomon Behar, MD
Updates in Cystic Fibrosis - Part 1
From December 2015, Rheum for the Holidays!Cystic fibrosis is a complicated disease process which can be challenging to manage. As pediatricians our role is to optimize their care, nutrition, and pulmonary therapies. Dr.Keens discusses advances in CF diagnosis and management including the latest in CFTR modulater therapies.
18min 36Thomas Keens, MD and Solomon Behar, MD