Dr. Yurkiewicz is a primary care doctor with fellowship training and board certification in internal medicine, oncology, and hematology. She is a clinical assistant professor of primary care and population health in the Department of Medicine at Stanford University School of Medicine.
She provides expert, compassionate clinical care for patients, advocates for them as a medical journalist, and researches ways to improve their lives through better health and quality of life.
She has a special interest in cancer survivorship and improving transitions between oncology and primary care. Her practice is uniquely focused on providing comprehensive care for patients with a history of cancer as well as those carrying genetic diagnoses of elevated risk.
For each patient, her goal is to provide thoughtful, compassionate, and holistic care.
As a journalist, she strives to bridge the gaps between academic medicine and everyday lives. She has been a regular columnist for Scientific American and MDEdge. Her writing has appeared in numerous publications and been reprinted in The Atlantic and The Best American Science and Nature Writing anthology.
Dr. Yurkiewicz is the author of the book Fragmented: A Doctor’s Quest to Piece Together American Health Care from the publisher W.W. Norton.
She has co-authored research articles that appeared in the New England Journal of Medicine, American Journal of Clinical Oncology, Genetics in Medicine, and other peer-reviewed publications. She also has served as an editorial board member of the journal Hematology News.
An additional interest of Dr. Yurkiewicz is bioethics. She interned with the Presidential Commission for the Study of Bioethical Issues, conducted extensive research, and published her discoveries in the New England Journal of Medicine, Penn Bioethics Journal, and Ivy Journal of Ethics.
She has presented her research discoveries to her peers at meetings of the American Society of Hematology, Society of Hospital Medicine, National Society of Genetic Counselors, and elsewhere.
She is a member of the American College of Physicians and an associate member of the American Society of Clinical Oncology and American Society of Hematology.
- Internal Medicine
- Cancer Survivorship
Clinical Assistant Professor, Medicine - Primary Care and Population Health
Co-Director Primary Care for Cancer Survivorship, Stanford Health Care (2021 - Present)
Co-Director Stanford Internal Medicine East, Stanford Health Care (2023 - Present)
Boards, Advisory Committees, Professional Organizations
Editorial Advisory Board Member, Hematology News (2018 - 2021)
Associate Member, American Society of Clinical Oncology (ASCO) (2017 - Present)
Associate Member, American Society of Hematology (ASH) (2017 - Present)
Class Representative, Stanford Internal Medicine Committee for Residency Reform (CRR) (2017 - 2018)
Internal Medicine Representative, Stanford Women in Medicine Leadership Council (2017 - 2018)
Team Leader, Resident Safety Council, Stanford Health Care (2016 - 2017)
Member, American College of Physicians (ACP) (2015 - Present)
Member, Biodesign and Innovation Pathway of Distinction (POD), Stanford Internal Medicine (2015 - 2018)
Student Co-Chair, American Medical Association / Massachusetts Medical Society, Harvard Chapter (2011 - 2012)
Student Co-Leader, Writers' Group, Harvard Medical School (2011 - 2012)
Intern, Presidential Commission for the Study of Bioethical Issues (2011 - 2011)
Board Certification, American Board of Internal Medicine, Hematology (2022)
Board Certification, American Board of Internal Medicine, Oncology (2022)
Fellowship: Stanford University Hematology and Oncology Fellowship (2021) CA
Board Certification: American Board of Internal Medicine, Internal Medicine (2018)
Residency: Stanford University Internal Medicine Residency (2018) CA
Medical Education: Harvard Medical School (2015) MA
B.S., Yale University, Molecular, Cellular, & Developmental Biology (2010)
Concordance of peripheral blood and bone marrow measurable residual disease in adult acute lymphoblastic leukemia.
2021; 5 (16): 3147-3151
Monitoring of measurable residual disease (MRD) is essential to the management of acute lymphoblastic leukemia (ALL) and is typically performed through repeated bone marrow (BM) assessments. Using a next-generation sequencing (NGS) MRD platform, we performed a prospective observational study evaluating the correlation between peripheral blood (PB) and BM MRD in adults with ALL receiving cellular therapies (hematopoietic cell transplantation [HCT] and chimeric antigen receptor T-cell [CAR-T] therapies). Among the study cohort (N = 69 patients; 126 paired PB/BM samples), we found strong correlation between PB and BM MRD (r = 0.87; P < .001), with a sensitivity and specificity of MRD detection in the PB of 87% and 90%, respectively, relative to MRD in the BM. MRD became detectable in the PB in 100% of patients who subsequently relapsed following HCT, with median time from MRD+ to clinical relapse of 90 days, and in 85% of patients who relapsed following CAR T, with median time from MRD+ to clinical relapse of 60 days. In adult patients with ALL undergoing cellular therapies, we demonstrate strong concordance between NGS-based MRD detected in the PB and BM. Monitoring of ALL MRD in the PB appears to be an adequate alternative to frequent invasive BM evaluations in this clinical setting.
View details for DOI 10.1182/bloodadvances.2021004234
View details for PubMedID 34424318
- Moxetumomab pasudotox as re-treatment for heavily-pretreated relapsed hairy cell leukemia. Leukemia & lymphoma 2021: 1-3
- Event free survival in adults with relapsed ALL who underwent front-line therapy with CALGB 10403. LIPPINCOTT WILLIAMS & WILKINS. 2021
Multi-institutional study evaluating clinical outcome with allogeneic hematopoietic stem cell transplantation after blinatumomab in patients with B-cell acute lymphoblastic leukemia: real-world data.
Bone marrow transplantation
Safety and efficacy of allogeneic hematopoietic stem cell transplantation (alloHCT) consolidation after blinatumomab is largely undetermined. To address this issue, we assembled multi-center data of relapsed refractory (RR) acute lymphocytic leukemia (ALL) patients who received alloHCT after blinatumomab. From December 2014 to May 2019, 223 patients who received blinatumomab for RR ALL outside clinical trials were identified. Among them, 106 (47%) patients transplanted post blinatumomab were evaluated for response and toxicity. Ninety-two (87%) patients received alloHCT after achieving CR, while remaining received subsequent salvage prior to undergoing alloHCT. Progression free survival (PFS) and overall survival (OS) at 2 years post alloHCT was 48% (95% CI: 36-59%) and 58% (95% CI: 45-69%), respectively. The cumulative incidence of GIII-IV aGVHD at 3 months was 9.9% (95% CI: 5.0-16.6%). Similarly, cumulative incidence of moderate to severe cGVHD at 2 years was 34.4% (95% CI: 23.7-45.3%). The overall survival at 2 years was not significantly different in patient who achieved CR with MRD negative (68.4% [95% CI: 28.5-89.1%]) compared to CR with MRD positive (63.4% [95% CI: 47.8-75.4%]) prior to alloHCT (p=0.8). Our real-world analysis suggests that alloHCT is feasible and effective post blinatumomab in patients with RR ALL.
View details for DOI 10.1038/s41409-021-01279-w
View details for PubMedID 33824440
Management Strategies for Patients With Epithelioid Hemangioendothelioma: Charting an Indolent Disease Course.
American journal of clinical oncology
Epithelioid hemangioendothelioma (EHE) is a malignant vascular neoplasm representing ∼1% of sarcomas. Due to its rarity, its clinical course is not well characterized and optimal treatment remains unknown.This was a retrospective review of patients with EHE treated at Stanford University between 1998 and 2020. Demographic characteristics, pathology results, treatment modalities, and clinical outcomes were collected from the electronic medical records.A total of 58 patients had a mean age of 50.6 years and a slight female predominance (52%). Primary disease sites were liver (33%), soft tissue (29%), lung (14%), bone (9%), and mediastinum (9%). A majority (55%) had advanced or metastatic disease. Median overall survival (OS) was 16.9 years, with OS 89% at 1 year, 68% at 5 years, and 64% at 10 years. The longest median OS was associated with soft tissue sites and shortest with lung and mediastinal disease (P=0.03). The localized disease had improved median OS compared with metastatic disease (P=0.02). There was no OS difference between tumors >3 cm and those equal or smaller (P=0.85). Surgery was a common treatment (71%), while radiation and ablation were sometimes used (28% and 9%, respectively). The median time to initiating therapy of any kind was 68 days. The median time to systemic therapy was 114 days.We report on the clinical characteristics and outcomes of patients with EHE at a large academic center. Treatment options included surgical excision, liver transplant, ablation, radiation, and systemic therapy. A subset of patients had indolent disease not requiring treatment upfront.
View details for DOI 10.1097/COC.0000000000000827
View details for PubMedID 34028371
- From Learning to Survive to Learning to Live: Meeting a Cancer Survivor’s Needs Essentials of Cancer Survivorship edited by Schapira, L. CRC Press. 2021; 1
Real-world outcomes of adult B-cell acute lymphocytic leukemia patients treated with blinatumomab.
2020; 4 (10): 2308–16
The availability and use of blinatumomab symbolizes a paradigm shift in the management of B-cell acute lymphoblastic leukemia (ALL). We conducted a retrospective multicenter cohort analysis of 239 ALL patients (227 relapsed refractory [RR], n = 227; minimal residual disease [MRD], n = 12) who received blinatumomab outside of clinical trials to evaluate safety and efficacy in the "real-world" setting. The median age of patients at blinatumomab initiation was 48 years (range, 18-85). Sixty-one (26%) patients had ≥3 prior therapies and 46 (19%) had allogeneic hematopoietic cell transplantation before blinatumomab. The response rate (complete remission/complete remission with incomplete count recovery) in patients with RR disease was 65% (47% MRD-). Among 12 patients who received blinatumomab for MRD, 9 (75%) patients achieved MRD negativity. In patients with RR disease, median relapse-free survival and overall survival (OS) after blinatumomab was 32 months and 12.7 months, respectively. Among patients who received blinatumomab for MRD, median relapse-free survival was not reached (54% MRD- at 2 years) and OS was 34.7 months. Grade ≥3 cytokine release syndrome, neurotoxicity, and hepatotoxicity were observed in 3%, 7%, and 10% of patients, respectively. Among patients who achieved complete remission/complete remission with incomplete count recovery, consolidation therapy with allogeneic hematopoietic cell transplantation retained favorable prognostic significance for OS (hazard ratio, 0.54; 95% confidence interval, 0.30-0.97; P = .04). In this largest "real-world" experience published to date, blinatumomab demonstrated responses comparable to those reported in clinical trials. The optimal sequencing of newer therapies in ALL requires further study.
View details for DOI 10.1182/bloodadvances.2019001381
View details for PubMedID 32453836
Hematopoietic Cell Transplantation for Philadelphia Chromosome Negative Adult Acute Lymphoblastic Leukemia in the Modern Era of Immune Therapy.
Current hematologic malignancy reports
PURPOSE OF REVIEW: This review will discuss the data and controversies related to HCT in the front-line and relapsed/refractory setting in the context of newly available targeted immunotherapies.RECENT FINDINGS: Recent studies in adult Ph-negative ALL support the use of measurable residual disease (MRD) response to front-line therapy to guide consolidation. As such, most MRD-negative patients do not require front-line HCT. Blinatumomab benefits patients with B-ALL with MRD+ complete response (CR) and can be used as a bridge to HCT; whether HCT is still required in this setting is an area of ongoing inquiry. Blinatumomab and inotuzumab result in high rates of MRD negative CR in adults with relapsed/refractory ALL and allow more patients with relapsed disease to receive HCT. Chimeric antigen receptor T cell (CAR-T) therapies may serve as a bridge to HCT or as a stand-alone therapy for relapsed/refractory patients; data suggests there may be greater benefit to consolidating CAR-T with HCT in HCT-naive adults. The decision to incorporate consolidative allogeneic HCT into front-line therapy should be primarily guided by MRD status and the ALL regimen utilized. Targeted immunotherapies result in high MRD-negative CR rates, allowing more adults with relapsed/refractory ALL to be successfully bridged to HCT; early incorporation of these therapies may also prove valuable in reducing the need for HCT in the front-line setting by increasing MRD negative CR rates.
View details for DOI 10.1007/s11899-020-00579-0
View details for PubMedID 32358681
Clinical Outcome with Allogeneic Hematopoietic Stem Cell Transplantation after Blinatumomab or Inotuzumab Ozogamicin in Patients with B-Cell Acute Lymphoblastic Leukemia: Real World Experience
ELSEVIER SCIENCE INC. 2020: S101–S102
View details for Web of Science ID 000516887900137
Sequencing of novel agents in relapsed/refractory B-cell acute lymphoblastic leukemia: Blinatumomab and inotuzumab ozogamicin may have comparable efficacy as first or second novel agent therapy in relapsed/refractory acute lymphoblastic leukemia.
The availability of novel agents (NAs), including blinatumomab and inotuzumab ozogamicin (InO), has improved the outcomes of patients with relapsed/refractory (RR) B-cell acute lymphoblastic leukemia (ALL). Because of the relative effectiveness, it is often a challenge for clinicians to determine how to best sequence these NAs with respect to efficacy and toxicity.In this multicenter, retrospective study of patients with RR ALL treated with blinatumomab, InO, or both, their efficacy as a first or second NA was compared.Among 276 patients, 221 and 55 received blinatumomab and InO, respectively, as a first NA therapy. The complete remission (CR)/complete remission with incomplete count recovery (CRi) rate was 65% and 67% for the blinatumomab and InO groups, respectively (P = .73). The rate of treatment discontinuation due to adverse events was 4% and 7% in the blinatumomab and InO groups, respectively. Ninety-two patients (43%) in the blinatumomab group and 13 patients (29%) in the InO group proceeded with allogeneic hematopoietic stem cell transplantation. The median overall survival (OS) was 15 and 11.6 months in the blinatumomab and InO groups, respectively. A subset analysis was performed for 61 patients who received both NAs (blinatumomab and then InO [n = 40] or InO and then blinatumomab [n = 21]). The CR/CRi rate was 58% for patients who received InO as the second NA and 52% for patients who received blinatumomab as the second NA. The median OS was 10.5 for patients who received InO as the second NA and 5.9 months for patients who received blinatumomab as the second NA (P = .09).Although the limited power of this study to detect a significant difference between subgroups is acknowledged, the data suggest that blinatumomab and InO may have comparable efficacy as a first or second NA therapy in RR ALL.
View details for DOI 10.1002/cncr.33340
View details for PubMedID 33259056
- Real World Outcomes of Adult B-Cell Acute Lymphocytic Leukemia Patients Treated with Blinatumomab AMER SOC HEMATOLOGY. 2019
Therapy-related acute lymphoblastic leukemia is a distinct entity with adverse genetic features and clinical outcomes.
2019; 3 (24): 4228–37
Patients with therapy-related acute lymphoblastic leukemia (t-ALL) represent a small subset of acute lymphoblastic leukemia (ALL) patients who received genotoxic therapy (ie, chemotherapy or radiation) for a prior malignancy. These patients should be distinguished from patients with de novo ALL (dn-ALL) and ALL patients who have a history of prior malignancy but have not received cytotoxic therapies in the past (acute lymphoblastic leukemia with prior malignancy [pm-ALL]). We report a retrospective multi-institutional study of patients with t-ALL (n = 116), dn-ALL (n = 100), and pm-ALL (n = 20) to investigate the impact of prior cytotoxic therapies on clinical outcomes. Compared with patients with pm-ALL, t-ALL patients had a significantly shorter interval between the first malignancy and ALL diagnosis and a higher frequency of poor-risk cytogenetic features, including KMT2A rearrangements and myelodysplastic syndrome-like abnormalities (eg, monosomal karyotype). We observed a variety of mutations among t-ALL patients, with the majority of patients exhibiting mutations that were more common with myeloid malignancies (eg, DNMT3A, RUNX1, ASXL1), whereas others had ALL-type mutations (eg, CDKN2A, IKZF1). Median overall survival was significantly shorter in the t-ALL cohort compared with patients with dn-ALL or pm-ALL. Patients who were eligible for hematopoietic cell transplantation had improved long-term survival. Collectively, our results support t-ALL as a distinct entity based on its biologic and clinical features.
View details for DOI 10.1182/bloodadvances.2019000925
View details for PubMedID 31869410
- Behind the Scenes of a Radical New Cancer Cure Undark. 2019
- Effect of Fitbit and iPad Wearable Technology in Health-Related Quality of Life in Adolescent and Young Adult Cancer Patients JOURNAL OF ADOLESCENT AND YOUNG ADULT ONCOLOGY 2018; 7 (5): 579–83
Anaplastic Thyroid Cancer With Extensive Skeletal Muscle Metastases on 18F-FDG PET/CT.
Clinical nuclear medicine
A 61-year-old woman with newly diagnosed anaplastic thyroid cancer and known metastases to the brain, lungs, and adrenal glands complained of groin muscle pain. F-FDG PET/CT was performed to assess for extent of disease and showed extensive hypermetabolic lesions throughout the skeletal musculature concerning for metastatic disease. As this would be a very rare presentation for anaplastic thyroid carcinoma, a biopsy of the left gluteal muscle was conducted. Pathology demonstrated anaplastic thyroid carcinoma, metastatic to skeletal muscle.
View details for PubMedID 29356736
- Paper Trails: Living and Dying With Fragmented Medical Records Undark. 2018
Inotuzumab ozogamicin: a CD22 mAb-drug conjugate for adult relapsed or refractory B-cell precursor acute lymphoblastic leukemia
DRUG DESIGN DEVELOPMENT AND THERAPY
2018; 12: 2293–2300
Despite improved rates of remission and cure in newly diagnosed adult acute lymphoblastic leukemia (ALL), the prognosis for patients with relapsed or refractory disease remains poor and the 5-year overall survival rate after relapse is under 10%. A recent paradigm shift has focused on the promise of targeted immunotherapy rather than standard chemotherapy, as ALL blast cells express a variety of antigens, and monoclonal antibodies may be developed to identify and destroy the leukemic cells. Inotuzumab ozogamicin is a CD22 monoclonal antibody conjugated to the cytotoxic antibiotic calicheamicin. CD22 expression is detected on leukemic blasts in over 90% of patients with ALL. Based on promising results from preclinical studies, inotuzumab ozogamicin was tested in Phase 1/2 and Phase 3 clinical trials and it demonstrated improved complete remission rates, progression-free survival and overall survival in relapsed or refractory adult ALL compared to standard therapy. Ongoing studies are evaluating the value of inotuzumab ozogamicin when given in combination with chemotherapy as part of upfront treatment. This review discusses the drug's biochemical properties and mechanism of action, preclinical research outcomes, clinical trial results, adverse events and toxicities, drug approval and ongoing investigations.
View details for PubMedID 30087554
- Complicated: Medical Missteps Are Not Inevitable. Health affairs (Project Hope) 2018; 37 (7): 1178–81
Institutional review board perspectives on obligations to disclose genetic incidental findings to research participants
GENETICS IN MEDICINE
2016; 18 (7): 705-711
Researchers' obligations to disclose genetic incidental findings (GIFs) have been widely debated, but there has been little empirical study of the engagement of institutional review boards (IRBs) with this issue.This article presents data from the first extensive (n = 796) national survey of IRB professionals' understanding of, experience with, and beliefs surrounding GIFs.Most respondents had dealt with questions about GIFs (74%), but only a minority (47%) felt prepared to address them. Although a majority believed that there is an obligation to disclose GIFs (78%), there is still not consensus about the supporting ethical principles. Respondents generally did not endorse the idea that researchers' additional time and effort (7%), and lack of resources (29%), were valid reasons for diminishing a putative obligation. Most (96%) supported a right not to know, but this view became less pronounced (63%) when framed in terms of specific case studies.IRBs are actively engaged with GIFs but have not yet reached consensus. Respondents were uncomfortable with arguments that could be used to limit an obligation to return GIFs. This could indicate that IRBs are providing some of the impetus for the trend toward returning GIFs, although questions remain about the relative contribution of other stakeholders.Genet Med 18 7, 705-711.
View details for DOI 10.1038/gim.2015.149
View details for Web of Science ID 000381136700009
View details for PubMedID 26583685
View details for PubMedCentralID PMC4873456
- Prenatal Whole-Genome Sequencing - Is the Quest to Know a Fetus's Future Ethical? NEW ENGLAND JOURNAL OF MEDICINE 2014; 370 (3): 195-197
Teleneurology applications Report of the Telemedicine Work Group of the American Academy of Neurology
2013; 80 (7): 670-676
To review current literature on neurology telemedicine and to discuss its application to patient care, neurology practice, military medicine, and current federal policy.Review of practice models and published literature on primary studies of the efficacy of neurology telemedicine.Teleneurology is of greatest benefit to populations with restricted access to general and subspecialty neurologic care in rural areas, those with limited mobility, and those deployed by the military. Through the use of real-time audio-visual interaction, imaging, and store-and-forward systems, a greater proportion of neurologists are able to meet the demand for specialty care in underserved communities, decrease the response time for acute stroke assessment, and expand the collaboration between primary care physicians, neurologists, and other disciplines. The American Stroke Association has developed a defined policy on teleneurology, and the American Academy of Neurology and federal health care policy are beginning to follow suit.Teleneurology is an effective tool for the rapid evaluation of patients in remote locations requiring neurologic care. These underserved locations include geographically isolated rural areas as well as urban cores with insufficient available neurology specialists. With this technology, neurologists will be better able to meet the burgeoning demand for access to neurologic care in an era of declining availability. An increase in physician awareness and support at the federal and state level is necessary to facilitate expansion of telemedicine into further areas of neurology.
View details for DOI 10.1212/WNL.0b013e3182823361
View details for Web of Science ID 000314878500015
View details for PubMedID 23400317
View details for PubMedCentralID PMC3590056
Outcomes from a US military neurology and traumatic brain injury telemedicine program
2012; 79 (12): 1237-1243
This study evaluated usage of the Army Knowledge Online (AKO) Telemedicine Consultation Program for neurology and traumatic brain injury (TBI) cases in remote overseas areas with limited access to subspecialists. We performed a descriptive analysis of quantity of consults, response times, sites where consults originated, military branches that benefitted, anatomic locations of problems, and diagnoses.This was a retrospective analysis that searched electronic databases for neurology consults from October 2006 to December 2010 and TBI consults from March 2008 to December 2010.A total of 508 consults were received for neurology, and 131 consults involved TBI. For the most part, quantity of consults increased over the years. Meanwhile, response times decreased, with a mean response time of 8 hours, 14 minutes for neurology consults and 2 hours, 44 minutes for TBI consults. Most neurology consults originated in Iraq (67.59%) followed by Afghanistan (16.84%), whereas TBI consults mainly originated from Afghanistan (40.87%) followed by Iraq (33.91%). The most common consultant diagnoses were headaches, including migraines (52.1%), for neurology cases and mild TBI/concussion (52.3%) for TBI cases. In the majority of cases, consultants recommended in-theater management. After receipt of consultant's recommendation, 84 known neurology evacuations were facilitated, and 3 known neurology evacuations were prevented.E-mail-based neurology and TBI subspecialty teleconsultation is a viable method for overseas providers in remote locations to receive expert recommendations for a range of neurologic conditions. These recommendations can facilitate medically necessary patient evacuations or prevent evacuations for which on-site care is preferable.
View details for DOI 10.1212/WNL.0b013e31826aac33
View details for Web of Science ID 000309055900014
View details for PubMedID 22955133
Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism
2012; 71 (5): 392-402
Studies of copy number variation (CNV) have characterized loci and molecular pathways in a range of neuropsychiatric conditions. We analyzed rare CNVs in Tourette syndrome (TS) to identify novel risk regions and relevant pathways, to evaluate burden of structural variation in cases versus controls, and to assess overlap of identified variations with those in other neuropsychiatric syndromes.We conducted a case-control study of 460 individuals with TS, including 148 parent-child trios and 1131 controls. CNV analysis was undertaken using 370 K to 1 M probe arrays, and genotyping data were used to match cases and controls for ancestry. CNVs present in < 1% of the population were evaluated.While there was no significant increase in the number of de novo or transmitted rare CNVs in cases versus controls, pathway analysis using multiple algorithms showed enrichment of genes within histamine receptor (subtypes 1 and 2) signaling pathways (p = 5.8 × 10(-4) - 1.6 × 10(-2)), as well as axon guidance, cell adhesion, nervous system development, and synaptic structure and function processes. Genes mapping within rare CNVs in TS showed significant overlap with those previously identified in autism spectrum disorders but not intellectual disability or schizophrenia. Three large, likely pathogenic, de novo events were identified, including one disrupting multiple gamma-aminobutyric acid receptor genes.We identify further evidence supporting recent findings regarding the involvement of histaminergic and gamma-aminobutyric acidergic mechanisms in the etiology of TS and show an overlap of rare CNVs in TS and autism spectrum disorders.
View details for DOI 10.1016/j.biopsych.2011.09.034
View details for Web of Science ID 000300260700003
View details for PubMedID 22169095
View details for PubMedCentralID PMC3282144
Enhanced Left-Finger Deftness Following Dominant Upper- and Lower-Limb Amputation
NEUROREHABILITATION AND NEURAL REPAIR
2011; 25 (7): 680-684
After amputation, the sensorimotor cortex reorganizes, and these alterations might influence motor functions of the remaining extremities.The authors examined how amputation of the dominant or nondominant upper or lower extremity alters deftness in the intact limbs.The participants were 32 unilateral upper- or lower-extremity amputees and 6 controls. Upper-extremity deftness was tested by coin rotation (finger deftness) and pegboard (arm, hand, and finger deftness) tasks.Following right-upper- or right-lower-extremity amputation, the left hand's finger movements were defter than the left-hand fingers of controls. In contrast, with left-upper- or left-lower-extremity amputation, the right hand's finger performance was the same as that of the controls.Although this improvement might be related to increased use (practice), the finding that right-lower-extremity amputation also improved the left hand's finger deftness suggests an alternative mechanism. Perhaps in right-handed persons the left motor cortex inhibits the right side of the body more than the right motor cortex inhibits the left side, and the physiological changes induced by right-sided amputation reduced this inhibition.
View details for DOI 10.1177/1545968311404242
View details for Web of Science ID 000293512500011
View details for PubMedID 21478497
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
2011; 70 (5): 863-885
We have undertaken a genome-wide analysis of rare copy-number variation (CNV) in 1124 autism spectrum disorder (ASD) families, each comprised of a single proband, unaffected parents, and, in most kindreds, an unaffected sibling. We find significant association of ASD with de novo duplications of 7q11.23, where the reciprocal deletion causes Williams-Beuren syndrome, characterized by a highly social personality. We identify rare recurrent de novo CNVs at five additional regions, including 16p13.2 (encompassing genes USP7 and C16orf72) and Cadherin 13, and implement a rigorous approach to evaluating the statistical significance of these observations. Overall, large de novo CNVs, particularly those encompassing multiple genes, confer substantial risks (OR = 5.6; CI = 2.6-12.0, p = 2.4 × 10(-7)). We estimate there are 130-234 ASD-related CNV regions in the human genome and present compelling evidence, based on cumulative data, for association of rare de novo events at 7q11.23, 15q11.2-13.1, 16p11.2, and Neurexin 1.
View details for DOI 10.1016/j.neuron.2011.05.002
View details for Web of Science ID 000291843500008
View details for PubMedID 21658581
- Army Programs Related to Warriors in Transition Warrior Transition Leader Medical Rehabilitation Handbook edited by Cooper, R. A., Pasquina, P. F., Drach, R. Borden Institute. 2011