Bio

Bio


Child neurologist and medical geneticist focusing on the diagnosis and management of rare neurologic disorders. Specific interests are in genetic epilepsy syndromes, childhood neurodegenerative and neurometabolic diseases and undiagnosed suspected genetic conditions.

Clinical Focus


  • Neurology - Child Neurology
  • Neurogenetics
  • Medical Genetics

Academic Appointments


Professional Education


  • Fellowship:Stanford University School of Medicine Registrar (2017) CA
  • Board Certification: Neurology - Child Neurology, American Board of Psychiatry and Neurology (2016)
  • Fellowship:University of California - San Francisco (2015) CA
  • Residency:University of California - San Francisco (2012) CA
  • Medical Education:New York University School of Medicine (2010) NY

Publications

All Publications


  • Use of electronic medical record templates improves quality of care for patients with infantile spasms. Health information management : journal of the Health Information Management Association of Australia Santoro, J. D., Sandoval, A., Ruzhnikov, M., Brimble, E., Chadwick, W., Wusthoff, C. J. 2018: 1833358318794501

    Abstract

    BACKGROUND: Infantile spasms (IS) is a neurologic disorder of childhood where time to treatment may affect long-term outcomes. Due to the clinical complexity of IS, care can be delayed.OBJECTIVE: To determine if the use of electronic medical record templates (EMRTs) improved care quality in patients treated for IS.METHOD: Records of patients newly diagnosed with IS were retrospectively reviewed both before and after creation of an EMRT for the workup and treatment of IS. Quality of care measures reviewed included delays in treatment plan, medication administration, obtaining neurodiagnostic studies and discharge. The need for repeat neurodiagnostic studies was also assessed. Resident physicians were surveyed regarding template ease of use and functionality.RESULTS: Of 17 patients with IS, 7 received template-based care and 10 did not. Patients in the non-template group had more delays in treatment ( p = 0.010), delay in medication administration ( p = 0.10), delay in diagnostic studies ( p = 0.01) and delay in discharge ( p = 0.39). Neurodiagnostic studies needed to be repeated in 5 out of 10 patients in the non-template group and none of the 7 patients in the template group ( p = 0.04). Surveyed resident physicians reported improved coordination in care, avoidance of delays in discharge and improved ability to predict side effects of treatment with template use.CONCLUSION: In a single centre, the use of protocolised EMRTs decreased treatment delays and the need for repeated invasive procedures in patients with newly diagnosed IS and was reported as easy to use by resident physicians.IMPLICATIONS: The use of protocolised EMRTs may improve the quality of patient care in IS and other rare diseases.

    View details for DOI 10.1177/1833358318794501

    View details for PubMedID 30124080

  • Variable clinical course of identical twin neonates with Alström syndrome presenting coincidentally with dilated cardiomyopathy. American journal of medical genetics. Part A Hollander, S. A., Alsaleh, N., Ruzhnikov, M., Jensen, K., Rosenthal, D. N., Stevenson, D. A., Manning, M. 2017; 173 (6): 1687-1689

    Abstract

    Alström Syndrome (AS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene. We report monozygotic twin infants who presented concurrently with symptoms of congestive heart failure (CHF) due to dilated cardiomyopathy (DCM). Following their initial presentation, one twin improved both echocardiographically and functionally while the other twin showed a progressive decline in ventricular function and worsening CHF symptoms requiring multiple hospitalizations and augmentation of heart failure therapy. Concordant findings of nystagmus, vision loss, and developmental delay were noted in both twins. Additional discordant findings included obesity and signs of insulin resistance in one twin. Genetic testing on one sibling confirmed AS. These twins underscore the importance of considering AS in any child presenting with DCM, particularly in infancy, and highlights that, even in monozygotic twins, the clinical course of AS is variable with regard to both the cardiac and non-cardiac manifestations of the disease.

    View details for DOI 10.1002/ajmg.a.38200

    View details for PubMedID 28407410

  • DIAGNOSTIC OUTCOMES AND RELATIVE COST OF CLINICAL WHOLE EXOME SEQUENCING Ruzhnikov, M. R., Alsadah, A., Mendelsohn, B., Alhariri, A., Cilio, M. R., Wu, Y., Marco, E. J., Hsiao, E., Sullivan, J., Shieh, J., Slavotinek, A., Sherr, E. H. LIPPINCOTT WILLIAMS & WILKINS. 2016: 247