Homozygous PLA2G6 (PARK 14) gene mutation associated neuropsychiatric phenotypes from southern India.

PLA2G6 gene associated neurodegenerative disorders resulting from homozygous c. 2222G > A (p.Arg741Gln) mutation were detected in two cases having variable neuropsychiatric phenotypic and imaging findings. Exome analysis helped identification of rare alleles, reinforcing ethnographic antecedents to geographical clustering of rare mutations and, essential to understanding biology of neurodegenerative disorders.

Timing of Referral and Characteristics of Uninsured, Medicaid, and Insured Patients Referred to the Outpatient Supportive Care Center at a Comprehensive Cancer Center.

CONTEXT: Low-income patients face barriers to palliative care access, which might negatively influence symptom management and advanced care planning. OBJECTIVE: Our aim was to compare time of referral and characteristics (level of symptom distress) among uninsured (indigent), low-insured (Medicaid), and insured patients presenting to our supportive care center (SCC). METHODS: We conducted a retrospective review of randomly selected 100 indigent, 100 Medicaid, and 300 insured outpatients referred during the same five-year period. We reviewed demographic and clinical characteristics including date of diagnosis of advanced cancer and of first visit to SCC, symptom assessment (Edmonton Symptom Assessment System), type and dose of opioid medication, number of total outpatient visits, and date of last contact with palliative care team. RESULTS: Among 482 evaluable patients, indigent, Medicaid, and insured patients, respectively, had mean (SD) ages of 48 (11), 50 (12), and 63 (13) years (P < 0.001); Edmonton Symptom Assessment System pain scores at first visit of 6.7 (2.5), 5.6 (3.2), and 4.9 (3.2) (P < 0.001); nonwhite race in 60%, 49%, and 25% of cases (P < 0.001); unmarried status in 68%, 64%, and 33% of cases (P < 0.001), while 63%, 87%, and 54% of patients (P < 0.001) were on opioids with median number of encounters per month of 0.6, 0.8, and 0.5 (P = 0.001). Median survival (95% CI) from first visit to last contact was 4.6 (2.8-6.2), 5.4 (3.5-7), and 5.6 (4.7-7.3) months (P = 0.036). CONCLUSION: Patients with limited or no insurance had significantly higher pain and were more frequently on opioids, younger, nonwhite, and not married. They required higher number of SCC follow-up visits. Insurance status did not affect timing of SCC referral or follow-ups at our cancer center.