Movement disorders, cerebral palsy and vaccination.

This review focused on vaccination in children with movement disorders, including cerebral palsy and the movement disorders triggered by vaccination in children with and without neurological disabilities. The following clinical questions were addressed: 1) Can children with movement disorders be vaccinated? 2) Can vaccination trigger movement disorders in children without neurological disabilities? 3) Can vaccination trigger movement disorders in children with neurological disabilities? and 4) Is there any consensus of care concerning vaccination in children with movement disorders? Following the PRISMA reporting guidelines, 1096 records were identified and 34 relevant papers were included. No evidence that vaccinations are contraindicated for children with movement disorders was noticed.

The PURPLE N study: objective and perceived nutritional status in children and adolescents with cerebral palsy.

Purpose: To obtain information on characteristics, management, current objective nutritional status and perception of nutritional status of children with cerebral palsy (CP) from healthcare professionals (HCPs) and caregivers.

Materials And Methods: A detailed survey of several items on eight main topics (general characteristics, motor function, comorbidities, therapies, anthropometry, feeding mode and problems and perceived nutritional status) was developed and tested for the study. Correlation between nutritional status and Gross Motor Function Classification System (GMFCS) levels was assessed using continuous variables (Z-scores for weight-for-age, height-for-age, weight-for-height, and body mass index-for-age), and categorical variables (being malnourished, stunted, or wasted).

Hemihypoglossal-facial nerve anastomosis: results and electromyographic characterization.

Introduction: The facial nerve surgery belongs to the basic procedures during lateral skull base approaches. Its damage has serious medical and psychological consequences, and therefore mastery of reconstruction and correction techniques should belong to the repertoire of skull base surgeons. The goal of this study was to demonstrate usefulness of electromyographic follow-up in facial nerve reconstruction.

Evaluation of muscle strength and manual dexterity in patients with Charcot-Marie-Tooth disease.

Study Design: Matched pair study.

Introduction: Differences in hand-muscle strength/dexterity between dominant (DH) and non-dominant (NDH) hand in Charcot-Marie-Tooth disease (CMT) are not well understood.

Purpose Of The Study: To compare muscle strength/dexterity between DH and NDH and to correlate manual dexterity, strength and sensory function.

[Neurofibromatosis von Recklinghausen type 1 (NF1) - clinical picture and molecular-genetics diagnostic].

Neurofibromatosis von Recklinghausen type 1 (NF1) is a multisystem, autosomal dominant hereditary neurocutaneous disease characterized by skin, central and peripheral nervous system , eyes , bone, endocrine, gastrointestinal and blood vessel wall involvement. It has an estimated frequency of 1 in 3000. Neurofibromatosis type 1 is caused by mutations in the large NF1 gene located on chromosome 17q11.

Increased drought tolerance through the suppression of ESKMO1 gene and overexpression of CBF-related genes in Arabidopsis.

Improved drought tolerance is always a highly desired trait for agricultural plants. Significantly increased drought tolerance in Arabidopsis thaliana (Columbia-0) has been achieved in our work through the suppression of ESKMO1 (ESK1) gene expression with small-interfering RNA (siRNA) and overexpression of CBF genes with constitutive gene expression. ESK1 has been identified as a gene linked to normal development of the plant vascular system, which is assumed directly related to plant drought response.

Complications of microsurgery of vestibular schwannoma.

Background: The aim of this study was to analyze complications of vestibular schwannoma (VS) microsurgery.

Material And Methods: A retrospective study was performed in 333 patients with unilateral vestibular schwannoma indicated for surgical treatment between January 1997 and December 2012. Postoperative complications were assessed immediately after VS surgery as well as during outpatient followup.

CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.

Myotonia congenita (MC) is a genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1) encoding the skeletal muscle chloride channel (ClC-1). Mutations of CLCN1 result in either autosomal dominant MC (Thomsen disease) or autosomal recessive MC (Becker disease). The ClC-1 protein is a homodimer with a separate ion pore within each monomer.

Yield of glyphosate-resistant sugar beets and efficiency of weed management systems with glyphosate and conventional herbicides under German and Polish crop production.

In sugar beet production, weed control is one of the most important and most expensive practices to ensure yield. Since glyphosate-resistant sugar beets are not yet approved for cultivation in the EU, little commercial experience exists with these sugar beets in Europe. Experimental field trials were conducted at five environments (Germany, Poland, 2010, 2011) to compare the effects of glyphosate with the effects of conventional weed control programs on the development of weeds, weed control efficiency and yield.

Influence of anesthesia on the results of intraoperative diagnostic electromyostimulation in patients with anorectal malformation.

Background And Purpose: Stimulation electromyography (sEMG) is useful in identifying the sphincter muscle (M) in patients with anorectal malformations (ARMs). This study evaluates the effect of anesthetic agents and M relaxants on sEMG findings.

Materials And Methods: Seventeen infants (10 boys and 7 girls) with a mean age of 6.

Alternative splicing of the maize Ac transposase transcript in transgenic sugar beet (Beta vulgaris L.).

The maize Activator/Dissociation (Ac/Ds) transposable element system was introduced into sugar beet. The autonomous Ac and non-autonomous Ds element excise from the T-DNA vector and integrate at novel positions in the sugar beet genome. Ac and Ds excisions generate footprints in the donor T-DNA that support the hairpin model for transposon excision.

Point mutations in Czech DMD/BMD patients and their phenotypic outcome.

Duchenne and Becker muscular dystrophies (DMD/BMD) are associated with mutations in the DMD gene. We determined the mutation status of 47 patients with dystrophinopathy without deletion or duplication in the DMD gene by screening performed by reverse transcription-PCR, protein truncation test, and DNA sequencing. We describe three patients with a mutation creating a premature termination codon (p.

Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene.

Myotonic dystrophy type 1 is caused by the expansion of a CTG repeat in the 3' UTR of the DMPK gene. A length exceeding 50 CTG triplets is pathogenic. Intermediate alleles with 35-49 triplets are not disease-causing but show instability in intergenerational transmissions.

Anti-vimentin antibodies and neuron-specific enolase in children with neurofibromatosis type-1.

Objectives: The aim of the study was to investigate the relationship of serum levels of neuron-specific enolase, anti-vimentin IgG, and anti-vimentin IgM antibodies in patients with neurofibromatosis type 1 and associated tumors (optic glioma, and plexiform neurofibroma).

Methods: Measurement of neuron-specific enolase and anti-vimentin antibodies were performed in 131 children and adolescents (67 males, mean age 10 years, range 4-19 years; 64 females, mean age 11 years, range 1-20 years) with three different forms of neurofibromatosis type 1 and in control group of 40 individuals (20 males, mean age 9 years, range 1-19 years and 20 females, mean age 12 years, range 3-18 years).

Results: Anti-vimentin IgG, IgM antibodies and NSE showed similar ability to distinguish between neurofibromatosis type 1 and tumors associated with neurofibromatosis type 1.

Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.

Purpose: To confirm and define a molecular basis for a case of mucolipidosis type IV (ML IV) with an extremely atypical phenotype pattern.

Design: Observational case report of a patient with ML IV with disease progression restricted to ocular symptoms.

Methods: Complete ophthalmologic and neurologic examination.