Bio

Education & Certifications


  • Bachelor of Arts, Harvard University, Psychology (2010)

Clerkships


  • 2014 Autumn - FAMMED 301A Family Medicine Core Clerkship
  • 2014 Autumn - MED 300A Internal Medicine Core Clerkship
  • 2014 Summer - ORTHO 306A Orthopedics Clerkship
  • 2014 Summer - SURG 300A Surgery Core Clerkship

Publications

Journal Articles


  • Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis CLINICAL GENETICS Black, M. E., Hedgire, S. S., Camposano, S., Paul, E., Harisinghani, M., Thiele, E. A. 2012; 82 (6): 552-557

    Abstract

    Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis. A retrospective review of the clinical records and radiological images of 205 patients with tuberous sclerosis complex (TSC) was performed to evaluate the prevalence and progression of hepatic lesions; examine the association of hepatic phenotype with genotype, age, and gender; and investigate the relationships between hepatic, renal, and pulmonary involvement. Hepatic angiomyolipomas (AML), cysts, and other benign lesions were identified in 30% of the cohort, and some lesions grew significantly over time. However, no patient had clinical symptoms or complications from hepatic lesions. TSC2 patients exhibited a higher frequency of AML compared to TSC1 patients (p = 0.037), and patients with no mutation identified exhibited a higher frequency of cysts compared to TSC2 patients (p = 0.023). Age was positively correlated with frequency of hepatic involvement (p < 0.001), whereas hepatic phenotype was independent of gender. Presence of hepatic AML was associated with presence of renal AML (p = 0.001). These findings confirm a high rate of asymptomatic hepatic lesions in TSC and further characterize the TSC phenotype.

    View details for DOI 10.1111/j.1399-0004.2012.01845.x

    View details for Web of Science ID 000310728700010

    View details for PubMedID 22251200

  • Multifocal Micronodular Pneumocyte Hyperplasia: Computed Tomographic Appearance and Follow-Up in Tuberous Sclerosis Complex JOURNAL OF COMPUTER ASSISTED TOMOGRAPHY Muzykewicz, D. A., Black, M. E., Muse, V., Numis, A. L., Rajagopal, J., Thiele, E. A., Sharma, A. 2012; 36 (5): 518-522

    Abstract

    To characterize pulmonary nodules in patients with tuberous sclerosis complex (TSC) using computed tomography.We retrospectively reviewed chest computed tomographic images of 73 patients with TSC (22 males and 51 females; mean ± SD age, 31.5 ± 13.2 years; range, 13.8-63.5 years).Multiple pulmonary nodules were identified in 42 (58%) of 73 patients (mean ± SD size, 6.6 ± 3.0 mm; range, 2-14 mm). Solid nodules were present in 11 (26%) of 42 patients, ground-glass nodules were present in 3 (7%) of 42 patients, and both solid and ground-glass nodules were present in 28 (67%) of 42 patients. The presence of multiple nodules was independent of sex and lymphangioleiomyomatosis. Follow-up images were available for 22 patients with multiple nodules (mean ± SD follow-up, 2.0 ± 1.1 years; range, 0.9-4.9 years), none of whom had change in nodule size or number.Most men and women with TSC have multiple pulmonary nodules, which likely represent multifocal micronodular pneumocyte hyperplasia in the absence of known predisposing factors.

    View details for DOI 10.1097/RCT.0b013e318264e404

    View details for Web of Science ID 000309518100003

    View details for PubMedID 22992599

  • Genotype and cognitive phenotype of patients with tuberous sclerosis complex EUROPEAN JOURNAL OF HUMAN GENETICS van Eeghen, A. M., Black, M. E., Pulsifer, M. B., Kwiatkowski, D. J., Thiele, E. A. 2012; 20 (5): 510-515

    Abstract

    Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder, which affects 1 in 6000 people. About half of these patients are affected by mental retardation, which has been associated with TSC2 mutations, epilepsy severity and tuber burden. The bimodal intelligence distribution in TSC populations suggests the existence of subgroups with distinct pathophysiologies, which remain to be identified. Furthermore, it is unknown if heterozygous germline mutations in TSC2 can produce the neurocognitive phenotype of TSC independent of epilepsy and tubers. Genotype-phenotype correlations may help to determine risk profiles and select patients for targeted treatments. A retrospective chart review was performed, including a large cohort of 137 TSC patients who received intelligence assessment and genetic mutation analysis. The distribution of intellectual outcomes was investigated for selected genotypes. Genotype-neurocognitive phenotype correlations were performed and associations between specific germline mutations and intellectual outcomes were compared. Results showed that TSC1 mutations in the tuberin interaction domain were significantly associated with lower intellectual outcomes (P<0.03), which was also the case for TSC2 protein-truncating and hamartin interaction domain mutations (both P<0.05). TSC2 missense mutations and small in-frame deletions were significantly associated with higher IQ/DQs (P<0.05). Effects related to the mutation location within the TSC2 gene were found. These findings suggest that TSC2 protein-truncating mutations and small in-frame mutations are associated with distinctly different intelligence profiles, providing further evidence that different types and locations of TSC germline mutations may be associated with distinct neurocognitive phenotypes.

    View details for DOI 10.1038/ejhg.2011.241

    View details for Web of Science ID 000303016800015

    View details for PubMedID 22189265

Books and Book Chapters


  • The Ketogenic Diet Pediatric Nutrition Handbook. Black, M. E., Lyczkowski, D. A., Pfeifer, H. H., Thiele, E. A. edited by Kleinman, R. E., Greer, F. R. American Academy of Pediatrics. 2013; 7th

Presentations


  • Addressing Intimate Partner Violence at Ravenswood Family Health Center: Policy, Protocol and Awareness Campaign Elena Brandford, Ulysses Rosas, Blake Gordon Zwerling

    Poster presentation at the 142nd annual American Public Health Association Conference in New Orleans, LA.

    Abstract: Intimate partner violence (IPV) is a pattern of coercive behavior that includes physical, sexual, verbal, emotional, and/or psychological abuse perpetrated by a current or former partner. More than 1 in 3 women and more than 1 in 4 men in the U.S. will experience IPV in their lifetime and many will suffer from chronic health problems as a result. Thus, healthcare providers are in a unique position to identify and assist victims of IPV. A needs assessment conducted at Ravenswood Family Health Center (RFHC) in 2012 indicated that 87% of staff surveyed believed that screening for IPV is important; however, only 46% felt prepared to screen. When providers were asked how often they screen, 65% reported rarely or never screening. In response to these results, RFHC has opted to use a systems-model approach to address IPV, which includes five key components: 1) clinician inquiry and referral 2) supportive environment 3) on-site IPV services 4) linkages to community resources 5) leadership and oversight. During this phase of the project, the clinician inquiry and referral component was addressed by developing a policy, protocol, and workflow that includes information on how to screen, respond to a disclosure, assist and refer victims, report incidents to law enforcement, and document screening results. The protocol and workflow were evaluated and refined using PDSA (Plan-Do-Study-Act) cycles.The supportive environment component was addressed by a clinic-wide IPV awareness campaign. These efforts will serve as the foundation for future staff training and clinic-wide implementation of IPV screening at RFHC.

    Time Period

    November 2014

    Presented To

    American Public Health Association (APHA)

    Location

    New Orleans

    Collaborators

  • Addressing Intimate Partner Violence at Ravenswood Family Health Center Elena Brandford, Ulysses Rosas

    Poster presented at the 12th Annual Community Health Symposium at Stanford University.

    Abstract: Intimate partner violence (IPV) is a pattern of coercive behavior that includes physical, sexual, verbal, emotional, and/or psychological abuse perpetrated by a current or former intimate partner. More than 1 in 3 women and more than 1 in 4 men in the United States will experience IPV in their lifetime and many will suffer from chronic health problems as a result. Thus, health care providers are in a unique position to identify and assist victims of IPV. A needs assessment conducted at Ravenswood Family Health Center (RFHC) in 2012 indicated that 87% of staff surveyed believed that screening for IPV is important; however, only 46% felt prepared to screen. When providers were asked how often they screen, 65% indicated that they rarely or never screen. In response to these results, RFHC has opted to use a systems-model approach to address IPV, which includes five key components: 1) clinician inquiry and referral 2) supportive environment 3) on-site IPV services 4) linkages to community resources 5) leadership and oversight. During this phase of the project, we addressed the clinician inquiry and referral component by developing a policy, protocol, and workflow that includes information on how and when to screen, respond to a disclosure, assist and refer victims, report incidents to law enforcement, and document screening results. The protocol and workflow were evaluated and refined using PDSA (Plan-Do-Study-Act) cycles. We also addressed the supportive environment component by launching a clinic-wide IPV awareness campaign. These efforts will serve as the foundation for future staff training and clinic-wide implementation of IPV screening at RFHC.

    Time Period

    January 2014

    Presented To

    Stanford School of Medicine

    Location

    Palo Alto, California

    Collaborators

  • Hepatic Manifestations of Tuberous Sclerosis Complex

    Poster presented at the MassGeneral Hospital for Children 3rd Annual Research Day.

    Abstract: Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis. A retrospective review of the clinical records and radiological images of 205 patients with tuberous sclerosis complex (TSC) was performed to evaluate the prevalence and progression of hepatic lesions; examine the association of hepatic phenotype with genotype, age, and gender; and investigate the relationships between hepatic, renal, and pulmonary involvement. Hepatic angiomyolipomas (AML), cysts, and other benign lesions were identified in 30% of the cohort, and some lesions grew significantly over time. However, no patient had clinical symptoms or complications from hepatic lesions. TSC2 patients exhibited a higher frequency of AML compared to TSC1 patients (p = 0.037), and patients with no mutation identified exhibited a higher frequency of cysts compared to TSC2 patients (p = 0.023). Age was positively correlated with frequency of hepatic involvement (p < 0.001), whereas hepatic phenotype was independent of gender. Presence of hepatic AML was associated with presence of renal AML (p = 0.001). These findings confirm a high rate of asymptomatic hepatic lesions in TSC and further characterize the TSC phenotype.

    Time Period

    March 2011

    Presented To

    MassGeneral Hospital for Children

    Location

    Boston, MA

  • Cognitive Phenotype and Correlation with Genotype in Patients with Tuberous Sclerosis Complex

    Poster presented at the LAM Treatment Alliance’s LAM/TSC Seminar Series Poster Session Competition.

    Abstract: Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder, which affects 1 in 6000 people. About half of these patients are affected by mental retardation, which has been associated with TSC2 mutations, epilepsy severity and tuber burden. The bimodal intelligence distribution in TSC populations suggests the existence of subgroups with distinct pathophysiologies, which remain to be identified. Furthermore, it is unknown if heterozygous germline mutations in TSC2 can produce the neurocognitive phenotype of TSC independent of epilepsy and tubers. Genotype-phenotype correlations may help to determine risk profiles and select patients for targeted treatments. A retrospective chart review was performed, including a large cohort of 137 TSC patients who received intelligence assessment and genetic mutation analysis. The distribution of intellectual outcomes was investigated for selected genotypes. Genotype-neurocognitive phenotype correlations were performed and associations between specific germline mutations and intellectual outcomes were compared. Results showed that TSC1 mutations in the tuberin interaction domain were significantly associated with lower intellectual outcomes (P<0.03), which was also the case for TSC2 protein-truncating and hamartin interaction domain mutations (both P<0.05). TSC2 missense mutations and small in-frame deletions were significantly associated with higher IQ/DQs (P<0.05). Effects related to the mutation location within the TSC2 gene were found. These findings suggest that TSC2 protein-truncating mutations and small in-frame mutations are associated with distinctly different intelligence profiles, providing further evidence that different types and locations of TSC germline mutations may be associated with distinct neurocognitive phenotypes.

    Time Period

    March 2011

    Presented To

    LAM Treatment Alliance

    Location

    Boston, MA

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