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Identifying genetic variants influencing human brain structures may reveal new biological mechanisms underlying cognition and neuropsychiatric illness. The volume of the hippocampus is a biomarker of incipient Alzheimer's disease and is reduced in schizophrenia, major depression and mesial temporal lobe epilepsy. Whereas many brain imaging phenotypes are highly heritable, identifying and replicating genetic influences has been difficult, as small effects and the high costs of magnetic resonance imaging (MRI) have led to underpowered studies. Here we report genome-wide association meta-analyses and replication for mean bilateral hippocampal, total brain and intracranial volumes from a large multinational consortium. The intergenic variant rs7294919 was associated with hippocampal volume (12q24.22; N = 21,151; P = 6.70 × 10(-16)) and the expression levels of the positional candidate gene TESC in brain tissue. Additionally, rs10784502, located within HMGA2, was associated with intracranial volume (12q14.3; N = 15,782; P = 1.12 × 10(-12)). We also identified a suggestive association with total brain volume at rs10494373 within DDR2 (1q23.3; N = 6,500; P = 5.81 × 10(-7)).

Others have suggested that CD117, or an immunophenotypic profile including CD117, can serve as surrogate for FLT3 mutation in T acute lymphoblastic leukemia (ALL), thereby guiding targeted therapy. We report the results of flow cytometry immunophenotypic analysis in 42 cases of T-ALL and T/myeloid acute leukemia also assessed for FLT3 mutation. CD117 was expressed in 21 (50%), and FLT3 was mutated in 8 cases (19%; 1 T-ALL and 7 T/myeloid). FLT3-mutated cases were terminal deoxynucleotidyl transferase (TdT)+/CD2+ (7/8), cytoplasmic CD3+/CD5+ (5/8), CD7+/CD13+/CD15+ (4/6), CD33+ (4/8), CD34+, and CD117+ (bright). Cytochemistry showed myeloperoxidase-positive cells in all T/myeloid acute leukemias (3%-50%). We conclude that FLT3 mutation is rare in T-ALL, and its presence supports T/myeloid lineage. CD117 expression alone is sensitive but not specific for FLT3 mutation. The immunophenotypic profile of TdT, CD7, CD13, CD34, and CD117 (bright) is helpful for predicting FLT3 mutation, with a sensitivity of 100% and specificity of 94%.

Falling asleep is paralleled by a loss of conscious awareness and reduced capacity to process external stimuli. Little is known on sleep-associated changes of spontaneously synchronized anatomical networks as detected by resting-state functional magnetic resonance imaging (rs-fMRI). We employed functional connectivity analysis of rs-fMRI series obtained from 25 healthy participants, covering all non-rapid eye movement (NREM) sleep stages. We focused on the default mode network (DMN) and its anticorrelated network (ACN) that are involved in internal and external awareness during wakefulness. Using independent component analysis, cross-correlation analysis (CCA), and intraindividual dynamic network tracking, we found significant changes in DMN/ACN integrity throughout the NREM sleep. With increasing sleep depth, contributions of the posterior cingulate cortex (PCC)/retrosplenial cortex (RspC), parahippocampal gyrus, and medial prefrontal cortex to the DMN decreased. CCA revealed a breakdown of corticocortical functional connectivity, particularly between the posterior and anterior midline node of the DMN and the DMN and the ACN. Dynamic tracking of the DMN from wakefulness into slow wave sleep in a single subject added insights into intraindividual network fluctuations. Results resonate with a role of the PCC/RspC for the regulation of consciousness. We further submit that preserved corticocortical synchronization could represent a prerequisite for maintaining internal and external awareness.

Objective: To describe 3 cases of peritoneal mesothelioma associated with endometriosis that were managed laparoscopically., Design: Case series., Setting: University and community hospitals., Patients: Three women with well-differentiated papillary mesothelioma of the peritoneum associated with endometriosis., Interventions: Laparoscopic excision and treatment of mesothelioma and endometriosis., Results: Three patients underwent laparoscopy for treatment of endometriosis and were found to have peritoneal mesothelioma. All 3 patients underwent total laparoscopic excision of the lesions and were followed up regularly for surveillance of possible recurrence., Conclusions: In selected cases of well-differentiated papillary mesothelioma associated with pelvic endometriosis, operative laparoscopy can be used effectively to diagnose and treat this condition., (Copyright © 2010 AAGL. Published by Elsevier Inc. All rights reserved.)