- MeSH
- Anencephaly diagnosis epidemiology etiology MeSH
- Dandy-Walker Syndrome diagnostic imaging etiology pathology MeSH
- Humans MeSH
- Nervous System Malformations * diagnostic imaging epidemiology etiology classification MeSH
- Brain * abnormalities MeSH
- Infant, Newborn MeSH
- Check Tag
- Humans MeSH
- Infant, Newborn MeSH
- Publication type
- Review MeSH
- MeSH
- Abdomen abnormalities diagnostic imaging MeSH
- Humans MeSH
- Magnetic Resonance Imaging * methods MeSH
- Brain abnormalities diagnostic imaging MeSH
- Infant, Newborn, Diseases * diagnostic imaging pathology MeSH
- Infant, Newborn MeSH
- Pelvis abnormalities diagnostic imaging MeSH
- Check Tag
- Humans MeSH
- Infant, Newborn MeSH
- Publication type
- Case Reports MeSH
- Review MeSH
Recent MRI studies have shown that abnormal functional connections in schizophrenia coexist with subtle changes in the structure of axons in the brain. However, there is a discrepancy in the literature concerning the relationship between white matter abnormalities and the occurrence of negative psychopathological symptoms. In the present study, we investigate the relationship between the altered white matter structure and specific psychopathology symptoms, i.e., subscales of Positive and Negative Syndrome Scale (PANSS) and Brief Negative Symptoms Scale (BNSS) in a sample of schizophrenia outpatients. For investigation on white matter abnormalities in schizophrenia, the diffusion tensor imaging analysis of between-group differences in main diffusion parameters by tract-based spatial statistics was conducted on schizophrenia outpatients and healthy controls. Hence, the correlation of PANSS and BNSS psychopathology subscales in the clinical group with fractional anisotropy was analyzed in the 17 selected cortical regions of interest. Presented between-group results revealed widespread loss of white matter integrity located across the brain in schizophrenia outpatients. Results on the white matter relationship with psychopathology revealed the negative correlation between fractional anisotropy in the left orbital prefrontal cortex, right Heschl's gyrus, bilateral precuneus and posterior cingulate cortex and the severity of asociality, as assessed with the BNSS. In conclusion, the presented study confirms the previous evidence on the widespread white matter abnormalities in schizophrenia outpatients and indicates the existence of the subtle but specific association between fractional anisotropy in the fronto-temporo-parietal regions with the asociality.Recent MRI studies have shown that abnormal functional connections in schizophrenia coexist with subtle changes in the structure of axons in the brain. However, there is a discrepancy in the literature concerning the relationship between white matter abnormalities and the occurrence of negative psychopathological symptoms. In the present study, we investigate the relationship between the altered white matter structure and specific psychopathology symptoms, i.e., subscales of Positive and Negative Syndrome Scale (PANSS) and Brief Negative Symptoms Scale (BNSS) in a sample of schizophrenia outpatients. For investigation on white matter abnormalities in schizophrenia, the diffusion tensor imaging analysis of between-group differences in main diffusion parameters by tract-based spatial statistics was conducted on schizophrenia outpatients and healthy controls. Hence, the correlation of PANSS and BNSS psychopathology subscales in the clinical group with fractional anisotropy was analyzed in the 17 selected cortical regions of interest. Presented between-group results revealed widespread loss of white matter integrity located across the brain in schizophrenia outpatients. Results on the white matter relationship with psychopathology revealed the negative correlation between fractional anisotropy in the left orbital prefrontal cortex, right Heschl’s gyrus, bilateral precuneus and posterior cingulate cortex and the severity of asociality, as assessed with the BNSS. In conclusion, the presented study confirms the previous evidence on the widespread white matter abnormalities in schizophrenia outpatients and indicates the existence of the subtle but specific association between fractional anisotropy in the fronto-temporo-parietal regions with the asociality.
- MeSH
- White Matter pathology physiopathology MeSH
- Gyrus Cinguli pathology physiopathology MeSH
- Adult MeSH
- Humans MeSH
- Brain Mapping methods MeSH
- Brain abnormalities pathology physiopathology MeSH
- Outpatients MeSH
- Prefrontal Cortex physiopathology MeSH
- Schizophrenia pathology physiopathology MeSH
- Diffusion Tensor Imaging methods MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
Vydání: první 186 stran : ilustrace ; 30 cm
Skripta jsou určena pro studenty Všeobecného lékařství, obsahující přehledné informace o nádorech a nemocích mozku, jejich diagnóze a terapii.
- MeSH
- Craniocerebral Trauma classification therapy MeSH
- Brain abnormalities surgery MeSH
- Brain Neoplasms diagnosis therapy MeSH
- Brain Diseases diagnosis therapy MeSH
- Neurosurgical Procedures MeSH
- Conspectus
- Patologie. Klinická medicína
- Učební osnovy. Vyučovací předměty. Učebnice
- NML Fields
- neurochirurgie
- NML Publication type
- učebnice vysokých škol
Malformations of cortical development (MCD) comprise a broad spectrum of developmental brain abnormalities. Patients presenting with MCDs often suffer from drug-resistant focal epilepsy, and some become candidates for epilepsy surgery. Their likelihood of achieving freedom from seizures, however, remains uncertain, and depends in a major part on the underlying pathology. Tissue samples obtained in epilepsy surgery form the basis of definite histopathological diagnosis; however, new molecular genetic methods have not yet been implemented in diagnostic processes for MCD cases. Furthermore, it has not been completely understood how the underlying pathology affects patients' outcomes after epilepsy surgery. We performed a systematic literature review of studies describing both histopathological and molecular genetic findings in MCD, along with studies on epilepsy surgery outcomes. We aimed to correlate the genetic causes with the underlying morphological abnormalities in focal cortical malformations and to stress the importance of the underlying biology for patient management and counseling. From the summarized findings of multiple authors, it is obvious that MCD may have a diverse genetic background despite a similar or even identical histopathological picture. Even though most of their molecular genetic findings converge on various levels of the PI3K/AKT/mTOR pathway, the exact mechanisms underlying MCD formation have not yet been completely described or indeed how this pathway generates a diverse range of histological abnormalities. Based on our findings, we therefore propose that all patients diagnosed and operated for drug-resistant epilepsy should have an integrated molecular and pathological diagnosis similar to the current practice in brain tumor diagnostic processes that might lead to more accurate diagnosis and effective stratification of patients undergoing epilepsy surgery.
- MeSH
- Epilepsy genetics pathology MeSH
- Phosphatidylinositol 3-Kinases MeSH
- Genetic Association Studies MeSH
- Humans MeSH
- Malformations of Cortical Development genetics pathology MeSH
- Brain abnormalities pathology MeSH
- Cerebral Cortex pathology MeSH
- Brain Diseases pathology MeSH
- Drug Resistant Epilepsy genetics pathology MeSH
- Signal Transduction MeSH
- TOR Serine-Threonine Kinases MeSH
- Seizures pathology MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Systematic Review MeSH
We discussed the cross section studies and the meta-analysis of published data in children and adolescents with ADHD (both drug naive and receiving stimulant medications), in comparison with healthy children and adolescents of the same age. In children and adolescents with ADHD the deceleration of the maturation dynamics of discrete CNS structures is found, volume reduction and decreased grey matter in prefrontal and occipital regions, which is accompanied by reverse asymmetry of the basal ganglia volume (putamen, nucleus caudate). The above mentioned developmental characteristics are valid only for the ADHD children, who have not been treated by stimulant medications. The stimulant treatment eliminates the mentioned changes into various extend. These developmental changes of CNS structures volume are missing in girls.
- MeSH
- Basal Ganglia * abnormalities pathology drug effects MeSH
- Child MeSH
- Attention Deficit Disorder with Hyperactivity * drug therapy pathology MeSH
- Humans MeSH
- Magnetic Resonance Imaging MeSH
- Adolescent MeSH
- Brain * abnormalities pathology drug effects MeSH
- Cross-Sectional Studies MeSH
- Central Nervous System Stimulants * therapeutic use MeSH
- Organ Size drug effects MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Female MeSH
Cleft lip and/or palate (CL/P) are common structural birth defects in humans. We used exome sequencing to study a patient with bilateral CL/P and identified a single nucleotide deletion in the patient and her similarly affected son—c.546_546delG, predicting p.Gln183Argfs*57 in the Distal-less 4 (DLX4) gene. The sequence variant was absent from databases, predicted to be deleterious and was verified by Sanger sequencing. In mammals, there are three Dlx homeobox clusters with closely located gene pairs (Dlx1/Dlx2, Dlx3/Dlx4, Dlx5/Dlx6). In situ hybridization showed that Dlx4 was expressed in the mesenchyme of the murine palatal shelves at E12.5, prior to palate closure. Wild-type human DLX4, but not mutant DLX4_c.546delG, could activate two murine Dlx conserved regulatory elements, implying that the mutation caused haploinsufficiency. We showed that reduced DLX4 expression after short interfering RNA treatment in a human cell line resulted in significant up-regulation of DLX3, DLX5 and DLX6, with reduced expression of DLX2 and significant up-regulation of BMP4, although the increased BMP4 expression was demonstrated only in HeLa cells. We used antisense morpholino oligonucleotides to target the orthologous Danio rerio gene, dlx4b, and found reduced cranial size and abnormal cartilaginous elements. We sequenced DLX4 in 155 patients with non-syndromic CL/P and CP, but observed no sequence variants. From the published literature, Dlx1/Dlx2 double homozygous null mice and Dlx5 homozygous null mice both have clefts of the secondary palate. This first finding of a DLX4 mutation in a family with CL/P establishes DLX4 as a potential cause of human clefts.
- MeSH
- Jaw Abnormalities genetics pathology MeSH
- Zebrafish MeSH
- Exome genetics MeSH
- HeLa Cells MeSH
- Homeodomain Proteins biosynthesis genetics MeSH
- Bone Morphogenetic Protein 4 genetics MeSH
- Humans MeSH
- Mesoderm metabolism MeSH
- Morpholinos MeSH
- Brain abnormalities pathology MeSH
- Mice, Knockout MeSH
- Mice MeSH
- Zebrafish Proteins genetics MeSH
- Cleft Palate genetics pathology MeSH
- Cleft Lip genetics pathology MeSH
- Transcription Factors biosynthesis genetics MeSH
- High-Throughput Nucleotide Sequencing MeSH
- Gene Expression Regulation, Developmental MeSH
- Animals MeSH
- Check Tag
- Humans MeSH
- Mice MeSH
- Animals MeSH
- Publication type
- Journal Article MeSH
- Research Support, N.I.H., Extramural MeSH
