Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by a deficiency of the sterol 27-hydroxylase enzyme. This deficiency results in excess production and accumulation of cholestanol, which can lead to many clinical findings within the first three decades of life, including progressive neurological dysfunction. This is a treatable condition with improvements in neurological and non-neurological symptoms upon the early initiation of replacement therapy.
View Article and Find Full Text PDFBackground: A recent phase III trial (NCT01372774) comparing use of stereotactic radiosurgery [SRS] versus whole-brain radiation therapy [WBRT] after surgical resection of a single brain metastasis revealed that declines in cognitive function were more common with WBRT than with SRS. A secondary endpoint in that trial, and the primary objective in this secondary analysis, was to identify baseline biomarkers associated with cognitive impairment after either form of radiotherapy for brain metastasis. Here we report our findings on APOE genotype and serum levels of associated proteins and their association with radiation-induced neurocognitive decline.
View Article and Find Full Text PDFImportance: Long-term outcomes of radiotherapy are important in understanding the risks and benefits of therapies for patients with brain metastases.
Objective: To determine how the use of postoperative whole-brain radiotherapy (WBRT) or stereotactic radiosurgery (SRS) is associated with quality of life (QOL), cognitive function, and intracranial tumor control in long-term survivors with 1 to 4 brain metastases.
Design, Setting, And Participants: This secondary analysis of a randomized phase 3 clinical trial included 48 institutions in the US and Canada.
Background:: Neuropsychological outcomes after deep brain stimulation (DBS) are variable and may arise from the heterogeneous neuropathological processes in Parkinson’s disease (PD).
Objective:: To explore if brain iron accumulation patterns and its region-specific alterations relate to neuropsychological outcomes post-DBS.
Methods:: Thirty-two PD subjects were identified from our database with susceptibility MRI prior to bilateral subthalamic nucleus (STN) DBS between 2011–2016.
Objective: The aim of this study was to determine whether long-standing racial disparities in lead exposure still exists for children age 1-5 years old. We examined if blood lead levels were higher among non-Hispanic Black children and others compared to non-Hispanic White children.
Methods: Data from the National Health and Nutrition Examination Survey (NHANES) from 1999-2016 were used.
The aim of this study was to investigate the association between blood lead level (BLL) and hypertension in adults when lead exposure for the general population is low. The study used data from the US National Health and Nutrition Examination Survey (NHANES) 1999-2016. Participants aged 20 to 79 years were included in our study.
View Article and Find Full Text PDFJ Racial Ethn Health Disparities
April 2021
A depressed African American emerging adult's intention to seek help can be affected by the severity of their mental health or perception of self-flourishing, or positive mental health. Using the Healthy Minds Study, a nationally representative dataset, utilization of mental health services among African American emerging adult students who have been diagnosed with depression by a health professional (n = 201), and the mediating effect of positive mental health on help-seeking intentions were examined. The findings revealed that 89.
View Article and Find Full Text PDFPurpose: Whole brain radiation therapy (WBRT) remains a commonly used cancer treatment, although controversy exists regarding the optimal dose/fractionation to optimize intracranial tumor control and minimize resultant cognitive deficits.
Methods And Materials: NCCTG N107C [Alliance]/CEC.3 randomized 194 patients with brain metastases to either stereotactic radiosurgery alone or WBRT after surgical resection.
Purpose: Advance directives (AD) have been heralded as vehicles to promote patient autonomy and have been decried as ineffective. Efforts to improve advance care planning (ACP) and AD documents are wide ranging but have not been prospectively studied.
Materials And Methods: In an institutional review board-approved, single-blind, randomized, controlled trial, we compared an interactive, educational ACP decision aid to standard ACP among patients with advanced cancer.
Background:: Optimizing recruitment efficiency is an important strategy to address the resource limitations that typically constrain clinical research. Surprisingly, little empiric data exist to guide research teams attempting to recruit a difficult population into similar studies. Our objective was to investigate factors associated with enrollment into an advance care planning interventional trial.
View Article and Find Full Text PDFPurpose: To determine whether whole-brain radiation therapy (WBRT) is associated with improved overall survival among non-small cell lung cancer (NSCLC) patients with favorable prognoses at diagnosis.
Methods And Materials: In the N0574 trial, patients with 1 to 3 brain metastases were randomized to receive stereotactic radiosurgery (SRS) or SRS plus WBRT (SRS + WBRT), with a primary endpoint of cognitive deterioration. We calculated diagnosis-specific graded prognostic assessment (DS-GPA) scores for NSCLC patients and evaluated overall survival according to receipt of WBRT and DS-GPA score using 2 separate cut-points (≥2.
Background: Whole brain radiotherapy (WBRT) is the standard of care to improve intracranial control following resection of brain metastasis. However, stereotactic radiosurgery (SRS) to the surgical cavity is widely used in an attempt to reduce cognitive toxicity, despite the absence of high-level comparative data substantiating efficacy in the postoperative setting. We aimed to establish the effect of SRS on survival and cognitive outcomes compared with WBRT in patients with resected brain metastasis.
View Article and Find Full Text PDFAmyotroph Lateral Scler Frontotemporal Degener
August 2017
Purpose: To determine whether an advance care planning (ACP) decision-aid could improve communication about end-of-life treatment wishes between patients with amyotrophic lateral sclerosis (ALS) and their clinicians.
Methods: Forty-four patients with ALS (>21, English-speaking, without dementia) engaged in ACP using an interactive computer based decision-aid. Before participants completed the intervention, and again three months later, their clinicians reviewed three clinical vignettes, and made treatment decisions (n = 18) for patients.
Importance: Whole brain radiotherapy (WBRT) significantly improves tumor control in the brain after stereotactic radiosurgery (SRS), yet because of its association with cognitive decline, its role in the treatment of patients with brain metastases remains controversial.
Objective: To determine whether there is less cognitive deterioration at 3 months after SRS alone vs SRS plus WBRT.
Design, Setting, And Participants: At 34 institutions in North America, patients with 1 to 3 brain metastases were randomized to receive SRS or SRS plus WBRT between February 2002 and December 2013.
Objective: Many patients with chronic illnesses report a desire for increased involvement in medical decision-making. This pilot study aimed to explore how patients with exacerbation-prone disease trajectories such as advanced heart failure or chronic obstructive pulmonary disease experience advance care planning using an online decision aid and to compare whether patients with different types of exacerbation-prone illnesses had varied experiences using the tool.
Methods: Pre-intervention questionnaires measured advance care planning knowledge.
Background: People with cancer face complex medical decisions, including whether to receive life-sustaining treatments at the end of life. It is not unusual for clinicians to make assumptions about patients' wishes based on whether they had previously chosen to pursue curative treatment.
Objective: We hypothesized that cancer patients who initially underwent curative intent surgery (CIS) would prefer more aggressive end-of-life treatments compared to patients whose treatment was noncurative intent (non-CIT).
This study examined the day-to-day lives of early stage lung cancer survivors who were discharged from treatment between 2 and 24 months prior to the study. Lung cancer survivors were called on eight consecutive nights and completed an interview about their daily experiences. Repeated measures, multilevel analysis of the phone interview data was conducted.
View Article and Find Full Text PDFContext: Many physicians avoid advance care planning (ACP) discussions because they worry such conversations will lead to psychological distress.
Objectives: To investigate whether engaging in ACP using online planning tools adversely affects hope, hopelessness, or anxiety among patients with advanced cancer.
Methods: Patients with advanced cancer and an estimated survival of two years or less (Intervention group) and a Control group were recruited at a tertiary care academic medical center (2007-2012) to engage in ACP using an online decision aid ("Making Your Wishes Known").
Despite widespread efforts to promote advance directives (ADs), completion rates remain low. Making Your Wishes Known: Planning Your Medical Future (MYWK) is an interactive computer program that guides individuals through the process of advance care planning, explaining health conditions and interventions that commonly involve life or death decisions, helps them articulate their values/goals, and translates users' preferences into a detailed AD document. The purpose of this study was to demonstrate that (in the absence of major life changes) the AD generated by MYWK reliably reflects an individual's values/preferences.
View Article and Find Full Text PDFBackground: Reported infection rates after ventriculoperitoneal shunt surgery vary from 1 to 25%. Antibiotic-impregnated (AI) catheters may reduce shunt infection rates, but this is uncertain.
Objective: To establish a prospective shunt registry to evaluate short-term (3-month) infection rates associated with ventriculoperitoneal shunts and standard or AI catheters during surgical treatment of hydrocephalus.
J Gen Intern Med
November 2009
Increasingly, oncology practitioners are realizing that despite the "success" of cancer therapies, cancer survivors are facing previously unrecognized issues related to survivorship, including physical and psychosocial side-effects of the cancer and its treatment, second cancers, and practical and economic issues related to adjusting to life after their cancer diagnosis. In gastrointestinal cancers, traditionally, the medical and surgical oncologists charged with the care of the patient are not well-equipped to deal with these survivorship issues. At the Penn State Cancer Institute's newly formed Gastrointestinal Cancer Survivorship Clinic, we provide a full array of services to optimize care through a multi-disciplinary approach.
View Article and Find Full Text PDFIn 2002, 10.4% of the 10 million persons alive who have ever been diagnosed with cancer had colorectal cancer (CRC). Barriers, such as distance, terrain, access to care and cultural differences, to CRC survivorship may be especially relevant in rural communities.
View Article and Find Full Text PDFInt J Radiat Oncol Biol Phys
April 2008
Brain metastases are common in cancer patients and cause considerable morbidity and mortality. For patients with limited disease and good performance status, treatment typically involves a combination of focal measures (e.g.
View Article and Find Full Text PDFThe rapid onset and progression of a brain tumor, cognitive and behavioral changes, and uncertainty surrounding prognosis are issues well known to health practitioners in neuro-oncology. We studied the specific challenges that family caregivers face when caring for patients experiencing the significant neurocognitive and neurobehavioral disorders associated with brain tumors. We selected 25 family caregivers of adult brain tumor patients to represent the brain tumor illness trajectory (crisis, chronic, and terminal phases).
View Article and Find Full Text PDFPurpose: To describe the co-occurring symptoms (depression, fatigue, pain, sleep disturbance, and cognitive impairment), quality of life (QoL), and functional status in patients with high-grade glioma.
Design: Correlational, descriptive study of 73 participants with high-grade glioma in the U.S.