Systemic infection may negatively modulate the development of cerebral white matter and long-term outcome of neonates. We analyzed the growth of corpus callosum (using cranial ultrasonography) and neurodevelopment (Bayley Scales of Infant Development, Third Edition) in 101 very low-birth-weight newborns. We observed significantly reduced corpus callosum length at 3 months of corrected age (44.5 mm vs 47.7 mm, P = .004) and diminished corpus callosum growth (0.07 mm/d vs 0.08 mm/d, P = .028) in infants who experienced systemic infection. The subgroup exhibited inferior neurodevelopmental outcomes with predominant motor impairment. The results suggest that length and growth of corpus callosum might be affected by systemic inflammatory response in preterm newborns. The changes in corpus callosum can contribute to adverse neurodevelopment at 2 years of corrected age. Serial ultrasonographic measurements of the corpus callosum may be suitable to identify preterm infants with increased risk of neurodevelopmental impairment.

• MeSH
• corpus callosum diagnostické zobrazování   růst a vývoj   MeSH
• kauzalita MeSH
• kohortové studie MeSH
• kojenec MeSH
• lidé MeSH
• následné studie MeSH
• neurovývojové poruchy epidemiologie   MeSH
• novorozenec nedonošený MeSH
• novorozenec s velmi nízkou porodní hmotností MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• prospektivní studie MeSH
• sepse epidemiologie   MeSH
• ultrasonografie metody   MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• pozorovací studie MeSH
• práce podpořená grantem MeSH

Systemic infection may negatively modulate the development of cerebral white matter and long-term outcome of neonates. We analyzed the growth of corpus callosum (using cranial ultrasonography) and neurodevelopment (Bayley Scales of Infant Development, Third Edition) in 101 very low-birth-weight newborns. We observed significantly reduced corpus callosum length at 3 months of corrected age (44.5 mm vs 47.7 mm, P = .004) and diminished corpus callosum growth (0.07 mm/d vs 0.08 mm/d, P = .028) in infants who experienced systemic infection. The subgroup exhibited inferior neurodevelopmental outcomes with predominant motor impairment. The results suggest that length and growth of corpus callosum might be affected by systemic inflammatory response in preterm newborns. The changes in corpus callosum can contribute to adverse neurodevelopment at 2 years of corrected age. Serial ultrasonographic measurements of the corpus callosum may be suitable to identify preterm infants with increased risk of neurodevelopmental impairment.

• MeSH
• corpus callosum diagnostické zobrazování   růst a vývoj   MeSH
• kauzalita MeSH
• kohortové studie MeSH
• kojenec MeSH
• lidé MeSH
• následné studie MeSH
• neurovývojové poruchy epidemiologie   MeSH
• novorozenec nedonošený MeSH
• novorozenec s velmi nízkou porodní hmotností MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• prospektivní studie MeSH
• sepse epidemiologie   MeSH
• ultrasonografie metody   MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• pozorovací studie MeSH
• práce podpořená grantem MeSH

Churg-Strauss syndrome is a rare form of small-vessel vasculitis. In the current report, we describe the case of a 17-year-old Czech girl predominantly characterized by peripheral neuropathy, the presence of cardiac and pulmonary involvement, hypereosinophilia, asthma, and sinusitis that led to the diagnosis of Churg-Strauss syndrome.

• MeSH
• Churgův-Straussové syndrom diagnóza   farmakoterapie   patofyziologie   MeSH
• diferenciální diagnóza MeSH
• lidé MeSH
• mladiství MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Pelizaeus-Merzbacher disease is a severe X-linked disorder of central myelination caused by mutations affecting the proteolipid protein gene. We describe 3 new PLP1 splicing mutations, their effect on splicing and associated phenotypes. Mutation c.453_453+6del7insA affects the exon 3B donor splice site and disrupts the PLP1-transcript without affecting the DM20, was found in a patient with severe Pelizaeus-Merzbacher disease and in his female cousin with early-onset spastic paraparesis. Mutation c.191+1G>A causes exon 2 skipping with a frame shift, is expected to result in a functionally null allele, and was found in a patient with mild Pelizaeus-Merzbacher disease and in his aunt with late-onset spastic paraparesis. Mutation c.696+1G>A utilizes a cryptic splice site in exon 5, causes partial exon 5 skipping and in-frame deletion, and was found in an isolated patient with a severe classical Pelizaeus-Merzbacher. PLP1 splice-site mutations express a variety of disease phenotypes mediated by different molecular pathogenic mechanisms.

• MeSH
• dítě MeSH
• fenotyp MeSH
• lidé středního věku MeSH
• lidé MeSH
• místa sestřihu RNA genetika   MeSH
• mutace genetika   MeSH
• mutační analýza DNA MeSH
• myelinový proteolipidový protein genetika   MeSH
• nervové vedení genetika   MeSH
• Pelizaeusova-Merzbacherova nemoc * genetika   patologie   patofyziologie   MeSH
• pitva MeSH
• předškolní dítě MeSH
• zdraví rodiny MeSH
• Check Tag
• dítě MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Rett syndrome is a neurodevelopmental disorder mainly caused by de novo mutations in the MECP2 (methyl-CpG-binding protein 2) gene. There is considerable variation in the severity of clinical features among Rett syndrome patients, even among patients with the same MECP2 mutation. In addition to X-chromosome inactivation pattern, the genetic background of the affected individual might also have a role in determining the severity of the disorder. We suggest that APOE is one of the genetic modulating factors. We analyzed clinical phenotypes of 46 patients with Rett syndrome, with confirmed MECP2 mutation. We discovered that among epsilon4 carriers, some clinical features were more severe, and the developmental regression occurred 4 months earlier on average than in those without the epsilon4 allele. Earlier onset of regression suggests a possible trend; however, it did not achieve distinctive statistical significance. Nevertheless, the epsilon4 allele of APOE may serve as a candidate modulation factor for the Rett syndrome phenotype.

• MeSH
• alely MeSH
• apolipoprotein E4 genetika   MeSH
• fenotyp MeSH
• heterozygot MeSH
• kojenec MeSH
• lidé MeSH
• mutace MeSH
• předškolní dítě MeSH
• protein 2 vázající methyl-CpG genetika   MeSH
• Rettův syndrom genetika   MeSH
• stupeň závažnosti nemoci MeSH
• věk při počátku nemoci MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Neurological histories of great musicians allow for a unique perspective on music physiology. Bedrich Smetana's autobiographical string quartet ends with the musical equivalent of tinnitus in the fourth movement, rendering the youthful and passionate themes of earlier movements moot as the piece ends depicting his ultimately fatal disease, neurosyphilis. Dmitri Shostakovich survived the censorship of Joseph Stalin's apparatchiks but suffered a prolonged form of paralysis attributable to slowly progressive motor neuron disease, although the viola sonata he wrote on his deathbed has become standard repertoire. Glenn Gould was a hypochondriacal pianist with obsessive-compulsive disorder and suspected Asperger syndrome. Vissarion Shebalin and (Ira) Randall Thompson had strokes followed by aphasia without amusia. Domenico Scarlatti provides an example of how even great composers must alter their technical expectations depending upon the skills and body habitus of their chief patrons. The focal dystonia afflicting Leon Fleisher and Gary Graffman catalyzed the discipline of performing arts medicine.

• MeSH
• dějiny 17. století MeSH
• dějiny 19. století MeSH
• dějiny 20. století MeSH
• duševní poruchy dějiny   MeSH
• hudba dějiny   MeSH
• lidé MeSH
• nemoci nervového systému dějiny   MeSH
• významné osobnosti * MeSH
• Check Tag
• dějiny 17. století MeSH
• dějiny 19. století MeSH
• dějiny 20. století MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• biografie MeSH
• časopisecké články MeSH
• historické články MeSH
• Geografické názvy
• Česká republika MeSH
• Kanada MeSH
• Spojené státy americké MeSH
• SSSR MeSH