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Kolodziejczak, A; Guerrini-Rousseau, L; Planchon, J M; Ecker, J; Selt, F; Mynarek, M; Obrecht, D; Sill, M; Hirsch, S; Sturm, D; Waszak, S M; Ramaswamy, V; Pentikainen, V; Demir, H A; Clifford, S C; Schwalbe, E; Massimi, L; Snuderl, M; Galbraith, K; Karajannis, M A; Hill, K; Li, B; White, C L; Redmond, S; Loizos, L; Jakob, M; Kordes, U; Schmid, I; Hauer, J; Blattmann, C; Filippidou, M; Scheurlen, W; Kontny, U; Grund, K; Sutter, C; Pietsch, T; Van, Tilburg C M; Frank, S; Schewe, D M; Malkin, D; Taylor, M D; Tabori, U; Bouffet, E; Kool, M; Sahm, F; Von, Deimling A; Korshunov, A; Von, Hoff K; Kratz, C; Jones, D T W; Rutkowski, S; Witt, O; Bougeard, G; Pajtler, K W; Pfister, S M; Bourdeaut, F; Milde, T
PURPOSE: The prognosis for SHH-medulloblastoma (MB) patients with Li-Fraumeni syndrome (LFS) is poor. Due to lack of comprehensive data for these patients, it is challenging to establish effective therapeutic recommendations. We here describe the largest retrospective cohort of pediatric LFS SHH-MB patients to date and their clinical outcomes.
PATIENTS AND METHODS: N=31 patients with LFS SHH-MB were included in this retrospective multicenter study. TP53 variant type, clinical parameters including treatment modalities, event-free survival (EFS) and overall survival (OS), as well as recurrence patterns and incidence of secondary neoplasms, were evaluated.
RESULT(S): All LFS-MBs were classified as SHH subgroup, in 30/31 cases based on DNA methylation analysis. The majority of constitutional TP53 variants (72%) represented missense variants, and all except two truncating variants were located within the DNA-binding domain. 54% were large cell anaplastic, 69% gross totally resected and 81% had M0 status. The 2-(y)ear and 5-(y)ear EFS were 26% and 8,8%, respectively, and 2y- and 5y-OS 40% and 12%. Patients who received post-operative radiotherapy (RT) followed by chemotherapy (CT) showed significantly better outcomes (2y-EFS:43%) compared to patients who received CT before RT (30%) (p<0.05). The 2y-EFS and 2y-OS were similar when treated with protocols including high-dose chemotherapy (EFS:22%, OS:44%) compared to patients treated with maintenance-type chemotherapy (EFS:31%, OS:45%). Recurrence occurred in 73.3% of cases independent of resection or M-status, typically within the radiation field (75% of RT-treated patients). Secondary malignancies developed in 12.5% and were cause of death in all affected patients.
CONCLUSION(S): Patients with LFS-MBs have a dismal prognosis. This retrospective study suggests that upfront RT may increase EFS, while intensive therapeutic approaches including high-dose chemotherapy did not translate into increased survival of this patient group. To improve outcomes of LFS-MB patients, prospective collection of clinical data and development of treatment guidelines are required
ISSN: 1523-5866
CID: 5292022

Brain Biopsy Findings Link Major Depressive Disorder to Neuroinflammation, Oxidative Stress, and Neurovascular Dysfunction: A Case Report [Letter]

Najjar, Souhel; Pearlman, Daniel M; Hirsch, Scott; Friedman, Kent; Strange, John; Reidy, Jason; Khoukaz, Maya; Ferrell, Richard B; Devinsky, Orrin; Najjar, Amanda; Zagzag, David
PMID: 24075735
ISSN: 0006-3223
CID: 688022

Psychogenic nonepileptic seizures and chronic pain: A retrospective case-controlled study

Gazzola, Deana M; Carlson, Chad; Rugino, Angela; Hirsch, Scott; Starner, Karen; Devinsky, Orrin
PURPOSE: Psychogenic nonepileptic seizures (PNES) can be challenging to diagnose, but certain clinical features can help to distinguish PNES from epileptic seizures. The purpose of this study is to assess chronic pain and prescribed pain medication use in PNES patients. METHODS: A case-controlled, retrospective analysis was performed examining pain medication use in 85 PNES patients versus an active control group of 85 patients with idiopathic generalized epilepsy (IGE). RESULTS: Chronic pain was more frequent among PNES patients (N=40) than active controls (N=10) (p<0.0001). Reported use of prescription pain medication was higher among PNES patients (N=20) versus active controls (N=6) (p=0.0048). The Positive Predictive Value of prescription pain medications for PNES patients was 76.9%. Opioid use in the PNES population was higher compared with active controls (p=0.0096). When excluding patients with a dual diagnosis of PNES and epilepsy from the latter two analyses and comparing these results to those that included this patient population, no statistically significant difference in results was found. CONCLUSIONS: Patients with PNES are more likely than those with IGE to report chronic pain disorders. A history of chronic pain and opioid use among patients with seizures raises the possibility of PNES. Among patients with PNES and chronic pain, a psychogenic etiology for pain and non-opiate pain management strategies should be considered.
PMID: 23165141
ISSN: 1525-5050
CID: 197382

Aripiprazole in children and adolescents with Tourette's disorder: an open-label safety and tolerability study

Lyon, Gholson J; Samar, Stephanie; Jummani, Rahil; Hirsch, Scott; Spirgel, Arie; Goldman, Rachel; Coffey, Barbara J
OBJECTIVE: The aim of this study was to conduct a prospective safety and tolerability study of aripiprazole for the treatment of tics in children and adolescents with Tourette's disorder (TD). METHOD: Eleven subjects (10 males) with TD (age 9-19 years, mean 13.36, standard deviation [SD] 3.33) who did not respond or were unable to tolerate previous tic medication were treated with aripiprazole in an open-label, flexible-dosing study over 10 weeks. Tic severity was rated using the Yale Global Tic Severity Scale (YGTSS) and the Clinical Global Impressions Scale for tics (CGI-Tics) at baseline and at follow-up. RESULTS: The mean (+/-SD) daily dose for aripiprazole was 4.5 +/- 3.0 mg. Mean (+/-SD) YGTSS Global Severity scores reduced from 61.82 +/- 13.49 at baseline to 33.73 +/- 15.18 at end point; mean YGTSS total tic scores reduced from 28.18 +/- 7.74 at baseline to 16.73 +/- 7.54 at end point. Mean (+/-SD) CGI-Tic severity scores reduced from 4.45 +/- 0.52 (moderate-marked) at baseline to 3.18 +/- 0.60 (mild) at end point. On the CGI-Tic improvement scale, 10 (91%) subjects achieved 1 ('very much improved') or 2 ('much improved') at end point. Most common adverse effects included appetite increase and weight gain in 5 subjects, mild extrapyramidal effects in 7 subjects, and headaches and tiredness/fatigue in 7 subjects; 1 subject experienced akathisia and muscle cramps. CONCLUSION: Aripiprazole appears to be a safe and tolerable treatment in children and adolescents with TD that appears to reduce tics; it should be further investigated as a treatment option in controlled trials
PMID: 20035580
ISSN: 1557-8992
CID: 105994

Relationship between apathy and cognitive abilities in depressed PD patients [Meeting Abstract]

Morrison, C.; Varanese, S.; Hirsch, S.; Howard, J.; Hamid, H.; Di Rocco, A.
ISSN: 0885-3185
CID: 591382

Limitations of traditional screening tools to detect depression in Parkinson's disease [Meeting Abstract]

Howard, J. F.; Varanese, S.; Penesetti, D.; Morrison, C.; Hirsch, S.; Brown, R.; DiRocco, A.
ISSN: 0885-3185
CID: 591402

Motor worsening and tardive dyskinesia with aripiprazole in Lewy body dementia

Boylan, Laura S; Hirsch, Scott
Aripiprazole (APZ) is a novel antipsychotic agent which does not block dopamine (DA) receptors but is rather a partial DA agonist. Thus, it has been proposed that APZ may not induce tardive dyskinesia (TD), a disfiguring and sometimes disabling and irreversible side effect of neuroleptics. Our patient had Lewy body dementia (LBD) and developed severe worsening of parkinsonism over 1 month of APZ treatment. Within days of discontinuation of APZ dramatic orobuccal dyskinesias emerged. Treatment emergent worsening of parkinsonism improved but orobuccal dyskinesias persisted unchanged until his death 8 months later. Others have reported severe extrapyramidal reactions including neuroleptic malignant syndrome and TD with APZ. APZ has been suggested as a treatment for TD but treatment benefit may reflect 'masked' dyskinesia. We conclude that, despite an attractive in vitro profile and promising animal data, APZ can induce serious extrapyramidal side effects, including TD
PMID: 21686897
ISSN: 1757-790x
CID: 134468

PANDAS and paroxysms: a case of conversion disorder? [Case Report]

Kuluva, Joshua; Hirsch, Scott; Coffey, Barbara
PMID: 18294094
ISSN: 1044-5463
CID: 78737

Mood and anxiety symptoms in an adolescent with Pervasive Developmental Disorder Not Otherwise Specified and moderate mental retardation [Case Report]

Williams, Daniel T; Hirsch, Scott; Coffey, Barbara
PMID: 17979592
ISSN: 1044-5463
CID: 818212