Medicine and Health Sciences Commons^™

Systems Biology Investigation Of Camp Modulation To Increase Smn Levels For The Treatment Of Spinal Muscular Atrophy., Sean G Mack, Daniel J Cook, Prasad Dhurjati, Matthew E R Butchbach

Department of Pediatrics Faculty Papers

Spinal muscular atrophy (SMA), a leading genetic cause of infant death worldwide, is an autosomal recessive disorder caused by the loss of SMN1 (survival motor neuron 1), which encodes the protein SMN. The loss of SMN1 causes a deficiency in SMN protein levels leading to motor neuron cell death in the anterior horn of the spinal cord. SMN2, however, can also produce some functional SMN to partially compensate for loss of SMN1 in SMA suggesting increasing transcription of SMN2 as a potential therapy to treat patients with SMA. A cAMP response element was identified on the SMN2 promoter, implicating cAMP …

Teaching Health Advocacy To Medical Students: A Comparison Study., Julia Belkowitz, Lee M Sanders, Chi Zhang, Gauri Agarwal, Daniel Lichtstein, Alex J Mechaber, Esther K Chung

Department of Pediatrics Faculty Papers

CONTEXT: Many encourage service learning and health advocacy training in medical student education, but related evaluation is limited.

OBJECTIVES: To assess (1) impact of a required community health advocacy training for medical students on student attitudes, knowledge, and skills; (2) student characteristics associated with higher advocacy knowledge and skills; and (3) perspectives of community-based organizations (CBOs).

DESIGN: Cross-sectional surveys.

SETTING: University of Miami Miller School of Medicine (UMMSM) Regional Medical Campus and main campus.

PARTICIPANTS: Medical students at both UMMSM campuses.

INTERVENTION: Required community health advocacy training for first- and second-year students including classroom experiences and hands-on project in partnership …

A Double-Blind Randomized Trial Of Fish Oil To Lower Triglycerides And Improve Cardiometabolic Risk In Adolescents., Samuel S. Gidding, Carol Prospero, Jobayer Hossain, Frances Zappalla, Prabhakaran Babu Balagopal, Bonita Falkner, Peter Kwiterovich

Department of Pediatrics Faculty Papers

OBJECTIVES: To determine the efficacy of 4 g/day fish oil to lower triglycerides and impact lipoprotein particles, inflammation, insulin resistance, coagulation, and thrombosis.

STUDY DESIGN: Participants (n = 42, age 14 ± 2 years) with hypertriglyceridemia and low-density lipoprotein (LDL) cholesterol/dL were enrolled in a randomized, double-blind, crossover trial comparing 4 g of fish oil daily with placebo. Treatment interval was 8 weeks with a 4-week washout. Lipid profile, lipoprotein particle distribution and size, glucose, insulin, high-sensitivity C-reactive protein, interleukin-6, fibrinogen, plasminogen activator inhibitor-1, and thrombin generation were measured.

RESULTS: Baseline lipid profile was total cholesterol 194 (5.4) mg/dL (mean …

Common And Specific Impairments In Attention Functioning In Girls With Chromosome 22q11.2 Deletion, Fragile X Or Turner Syndromes., Andrea I Quintero, Elliott A Beaton, Danielle J Harvey, Judith L. Ross, Tony J Simon

Department of Pediatrics Faculty Papers

BACKGROUND: Chromosome 22q11.2 deletion syndrome (22q11.2DS), fragile X syndrome (FXS), and Turner syndrome (TS) are complex and variable developmental syndromes caused by different genetic abnormalities; yet, they share similar cognitive impairments in the domains of numbers, space, and time. The atypical development of foundational neural networks that underpin the attentional system is thought to result in further impairments in higher-order cognitive functions. The current study investigates whether children with similar higher-order cognitive impairments but different genetic disorders also show similar impairments in alerting, orienting, and executive control of attention.

METHODS: Girls with 22q11.2DS, FXS, or TS and typically developing (TD) …

Anakinra And Related Drugs Targeting Interleukin-1 In The Treatment Of Cryopyrin-Associated Periodic Syndromes, Inessa Bachove, Christopher Chang

Department of Pediatrics Faculty Papers

Anakinra is an interleukin (IL) receptor antagonist that works by blocking the biological activity of IL-1 by competitively inhibiting binding of IL-1 to the type 1 interleukin receptor. IL-1 production is induced in response to inflammatory stimuli and mediates various physiological mechanisms, including inflammation and immunological reactions. Patients with neonatal onset multisystem inflammatory disease (NOMID) produce excess IL-1β, a major proinflammatory cytokine that regulates innate immune responses. Anakinra binds competitively and this results in a rapid reduction in disease severity. NOMID, also known as chronic infantile neurologic, cutaneous, articular syndrome, is the most severe clinical phenotype in the spectrum of …