Spectrum of hereditary pathology characterized by congenital brain malformations

Проанализирована клиническая картина у 196 пациентов с врожденными пороками развития (ВПР) головного мозга. Пациенты были обследованы с использованием методов нейровизуализации, цитогенетических и молекулярно-генетических методов. Проведен анализ спектра ВПР головного мозга. Самыми частыми ВПР головного мозга являлись аномалии церебральных комиссур, второе место занимали кортикальные мальформации, третье место - аномалии мозжечка. Хромосомная патология (включая микроделеционные синдромы) была выявлена у 19 пациентов (9,7%), моногенные болезни - у 27 пациентов (13,8%). The clinical picture in 196 patients with congenital malformations of the brain was analyzed. Patients were examined using neuroimaging techniques, cytogenetic and molecular genetics techniques. The spectrum of congenital brain defects was analyzed. The most frequent congenital malformations of the brain were abnormalities of cerebral commissures, the second place was occupied by cortical malformations, the third place - abnormalities of the cerebellum. Chromosomal pathology (including microdelection syndromes) was detected in 19 patients (9.7%), monogenic diseases in 27 patients (13.8%).

Callinera emiliae sp. nov. (Nemertea: Palaeonemertea) from Negros Island, the Philippines

Callinera emiliae sp. nov., the ninth member of the genus, is described based on three specimens collected in Dumaguete, Negros Island, Republic of the Philippines. The new species can be distinguished from its congeners by the following characteristics: lateral sensory organs present; sub-epidermal glandular cells absent; blood vascular system without a ventral cephalic connective; nervous system with two dorsal cerebral commissures; and foregut nerves fused to form a ganglion in front of the mouth. In living specimens, epidermal constrictions were observed in the intestinal region; the presence of intestinal sphincters was confirmed in sectioned material and these correspond with the epidermal constrictions.

Callosal Atrophy Correlates with Temporal Lobe Volume and Mental Status in Alzheimer's Disease

Background:Recent studies have reported significant atrophy of the corpus callosum (CC) in Alzheimer's Disease (AD). However, it is currently unknown whether CC atrophy is associated with specific cortical volume changes in AD. Moreover, possible atrophy in extra-callosal commissures has not been examined to date. The purpose of the present study was to quantify atrophy in two cerebral commissures [the CC and the anterior commissure (AC)], to correlate this measure with cognitive status, and to relate commissural size to independent measures of temporal lobe volume in AD patients.Methods:A sample of AD patients and of age- and education-matched normal control subjects (NCs) underwent MRI and a cognitive test battery including the Dementia Rating Scale and Mini Mental State examination. Mid-sagittal regional areas within CC and AC were measured along with superior, middle and inferior temporal lobes volumes.Results:Alzheimer's Disease patients had significantly smaller callosa than did NCs. The callosal regions most affected in AD included the midbody, isthmus and genu. The isthmus and midbody areas of the CC were positively correlated with cognitive performance and with superior temporal lobe volume in AD patients. The mid-sagittal area of the AC and the superior temporal volumes did not differ between AD patients and NCs.Conclusion:The study demonstrated that the regional morphology of the CC correlates with current cognitive status and temporal lobe atrophy in AD. As well, the lack of difference for the AC suggests that commissural atrophy in AD is regionally specific.