Secondary fibrosarcoma of the brain stem treated with cyclophosphamide and Imatinib

Radiation-induced midbrain fibrosarcoma is a rare, highly aggressive tumor, which is associated with poor prognosis. We present the case of a 48-year old man with brainstem fibrosarcoma 20 years following radiation therapy received for a pituitary tumor. We discuss this case in the context of the diagnostic criteria for these tumors, and previous reports of secondary and primary sarcomas of the central nervous system

Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias

We characterized the role of structural variants, a largely unexplored type of genetic variation, in two non-Alzheimer's dementias, namely Lewy body dementia (LBD) and frontotemporal dementia (FTD)/amyotrophic lateral sclerosis (ALS). To do this, we applied an advanced structural variant calling pipeline (GATK-SV) to short-read whole-genome sequence data from 5,213 European-ancestry cases and 4,132 controls. We discovered, replicated, and validated a deletion in TPCN1 as a novel risk locus for LBD and detected the known structural variants at the C9orf72 and MAPT loci as associated with FTD/ALS. We also identified rare pathogenic structural variants in both LBD and FTD/ALS. Finally, we assembled a catalog of structural variants that can be mined for new insights into the pathogenesis of these understudied forms of dementia

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40-64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington's disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered

Effects of aqueous leaf extract of Tithonia diversifolia (Mexican Sunflower) on semen characteristic and morphology in male Wistar albino rats

The objective of the present study was to investigate the effects of the aqueous extract of Tithonia diversifolia leaves on semen characteristics and spermatozoa morphology Wistar rats. The rats were divided into three groups (A, B and C) and treated daily with 400, 800 and 1600 mg/kg of the aqueous extract of Tithonia diversifolia leaves respectively for 28 days while 5ml/kg of distilled water was given to the control group D. At the end of the experimental period, animals were sacrificed and sperm characteristics, histology of the testes and epididymis were assessed. Aqueous extract of Tithonia diversifolia leaves caused a dose- dependent decrease in the progressive sperm motility of the Wistar rats with a significant decrease (p<0.05) in the group dosed with 1600mg/kg (62.50±7.5) when compared with the control (93.75±1.3). It also cause a dose- dependent decrease in the sperm count with a significant (p<0.05) decrease in the group dosed with 1600mg/kg (69.75±0.5) when compared with the control (129.0±5.0). Some sperm abnormalities vise headless tail (321.5±0.3), tailless head (171.00±50.0) and bent tail (3766.0±320.5) were significantly increased in the group dosed with 1,600mg/kg while histopathological evaluation of the testis and epididymis revealed varying degrees of degeneration and necrosis of the germinal epithelia cell of the seminiferous tubules. Spermiostasis and complete epididymal aspermia were also observed. Tithonia diversifolia aqueous leaf extract has significant anti spermatogenic effects on adult male Wistar rats which could impair reproductive activities in these rats.Keywords: Tithonia diversifolia, Aqueous Leaf Extract, Semen Characteristics, Wista