We report genomic analysis of 300 meningiomas, the most common primary brain tumors, leading to the discovery of mutations in TRAF7, a proapoptotic E3 ubiquitin ligase, in nearly one-fourth of all meningiomas. Mutations in TRAF7commonly occurred with a recurrent mutation (K409Q) in KLF4, a transcription factor known for its role in inducing pluripotency, or with AKT1E17K, a mutation known to activate the PI3K pathway. SMO mutations, which activate Hedgehog signaling, were identified in ~5% of non-NF2 mutant meningiomas. These non-NF2 meningiomas were clinically distinctive—nearly always benign, with chromosomal stability, and originating from the medial skull base. In contrast, meningiomas with mutant NF2 and/or chromosome 22 loss were more likely to be atypical, showing genomic instability, and localizing to the cerebral and cerebellar hemispheres. Collectively, these findings identify distinct meningioma subtypes, suggesting avenues for targeted therapeutics.

H3K27M mutation occurs exclusively in pHGGs arising from the midline and presents with varied histomorphological features ranging from low-grade pilomyxoid astrocytoma to highly pleomorphic glioblastoma along with ATRX loss and p53 mutations.

Patterns of cardiovascular risk factors in populations are not static over time. We examined trends in body mass index (BMI), parental smoking and blood pressure over a 15-year period in Turkish children aged 15-17 years. Two cross-sectional studies were performed in secondary schools in Turkey in 1989-1990 and 2004-2005. Study participants were 673 children in 1989-1990 and 640 adolescents in 2004-2005. Main outcome measures were weight, height, BMI, presence and amount of parental smoking, systolic and diastolic blood pressure. Age and sex matched comparisons were performed to assess temporal trends in these measures. Children in 2004-2005 had increased weight, height, BMI and decreased systolic and diastolic blood pressure in all age groups compared with children in [1989][1990]. According to the international criteria, 3.4% of children were obese and 15.8% were overweight in 2005, compared to 0.7% obese and 4.2% overweight in 1990 (Po0.001). However, a decrease was noted in blood pressure; 16% were classified as hypertensive in 1989 -1990 versus 8% in 2004. The prevalence and amount of parental smoking also decreased over the last 15 years. We observed significant changes in BMI and blood pressure in Turkish children over the last 15 years. Temporal trends in these parameters may indicate a change in the pattern of cardiovascular disease in this population.

Background:Diffusion tensor imaging (DTI) is a novel magnetic resonance imaging (MRI) technique potentially able to evaluate the microscopic structural organization of white matter fibers.Aim:This study aimed to compare fractional anisotropy (FA) and apparent diffusion coefficient (ADC) values obtained by DTI in stenotic versus nonstenotic cervical spinal segments of patients with clinical and neurological evidence of cervical spondylotic myelopathy (CSM).Materials and Methods:This prospective study included 21 patients with CSM but without T2 changes on conventional MRI. Diffusion tensor (DT) images from the stenotic and nonstenotic segments of the subjects were obtained. FA and ADC values were estimated and compared with stenotic versus nonstenotic segments.Statistical Analysis:Paired t-test was used [Statistical Package for the Social Sciences (SPSS) 12.0].Results:In the most stenotic segments, the mean FA value was significantly lower (0.4228 ± 0.1090 vs 0.6884 ± 0.0075, P < 0.001) and the mean ADC value was significantly higher (1.312 ± 0.2405 vs 0.9183 ± 0.1477, P < 0.001) when compared to nonstenotic segments. In addition, there was a negative correlation between FA and ADC values (r = 0.63, P = 0.002).Conclusions:DTI of the cervical spine seems to be a promising novel imaging modality in patients with CSM.Advances in Knowledge:DTI may offer increased diagnostic sensitivity as compared to standard MRI and enables earlier detection of the disease.

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We report an association between a new causative gene and spastic paraplegia, which is a genetically heterogeneous disorder. Clinical phenotyping of one consanguineous family followed by combined homozygosity mapping and whole-exome sequencing analysis. Three patients from the same family shared common features of progressive complicated spastic paraplegia. They shared a single homozygous stretch area on chromosome 6. Whole-exome sequencing revealed a homozygous mutation (c.853_871del19) in the gene coding the kinesin light chain 4 protein (KLC4). Meanwhile, the unaffected parents and two siblings were heterozygous and one sibling was homozygous wild type. The 19 bp deletion in exon 6 generates a stop codon and thus a truncated messenger RNA and protein. The association of a KLC4 mutation with spastic paraplegia identifies a new locus for the disease.

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Dysraphic appendages are rare and complicated anomalies. They should be investigated carefully, and all of the lesions must be repaired for babies' quality of life.