Brain malformations and cognitive performance in spina bifida.

Aim: To systematically characterize radiological features of patients with spina bifida, their relationship to cognitive function, and differences between spina bifida aperta (SBA) and spina bifida occulta (SBO).

Method: In a retrospective study of 265 patients (117 females, 148 males; median age at imaging 11y, range 1-47y; SBA n=206, SBO n=59), the radiological phenotype was assessed through magnetic resonance imaging (MRI) (SBA n=171, SBO n=59). In 126 patients (SBA n=116, SBO n=10) Kaufman Assessment Battery for Children (KABC) or Wechsler Intelligence Scale for Children, Fourth Edition (WISC-IV) and Wechsler Adult Intelligence Scale, Fourth Edition (WAIS-IV) were performed.

Age-specific occurrence of pathological fractures in patients with spina bifida.

Pathological fractures (PFs) are common in patients with spina bifida. However, most previous studies refer to the overall fracture rate and largely neglecting putative age-dependent aspects. The aim of this retrospective study was to characterize patterns of fracture occurrence in childhood.

Can quantitative sensory tests predict failed back surgery?: A prospective cohort study.

Background: Failed back surgery syndrome (FBSS) is a pain condition refractory to therapy, and is characterised by persistent low back pain after spinal surgery. FBSS is associated with severe disability, low quality of life and high unemployment. We are currently unable to identify patients who are at risk of developing FBSS.

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

Vascular Ehlers-Danlos syndrome (type IV) is an autosomal dominant disorder caused by heterozygous variants of COL3A1. We identified biallelic COL3A1 variants in two unrelated families. In a 3-year-old female with developmental delay the nonsense variant c.

Feasibility of using PZT actuators to study the dynamic behavior of a rotating disk due to rotor-stator interaction.

In this paper, PZT actuators are used to study the dynamic behavior of a rotating disk structure due to rotor-stator interaction excitation. The disk is studied with two different surrounding fluids-air and water. The study has been performed analytically and validated experimentally.

Potassium channel KIR4.1-specific antibodies in children with acquired demyelinating CNS disease.

Objective: A serum antibody against the inward rectifying potassium channel KIR4.1 (KIR4.1-IgG) was recently discovered, which is found in almost half of adult patients with multiple sclerosis.

Cement-augmented anterior screw fixation of Type II odontoid fractures in elderly patients with osteoporosis.

Background Context: Closed reduction and internal fixation by an anterior approach is an established option for operative treatment of displaced Type II odontoid fractures. In elderly patients, however, inadequate screw purchase in osteoporotic bone can result in severe procedure-related complications.

Purpose: To improve the stability of odontoid fracture screw fixation in the elderly using a new technique that includes injection of polymethylmethacrylat (PMMA) cement into the C2 body.

T-cell homeostasis in pediatric multiple sclerosis: old cells in young patients.

Objective: To assess pediatric patients with multiple sclerosis (MS) for early signs of homeostatic and functional abnormalities in conventional (Tcon) and regulatory T cells (Treg).

Methods: We studied the composition of the peripheral T-cell compartment and Treg function in a cross-sectional study with 30 pediatric MS (pMS) patients by multicolor flow cytometry and proliferation assays. Data were compared to those obtained from adult patients (n = 26) and age-matched control donors (n = 67).

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.

Objectives: Pontocerebellar hypoplasia with spinal muscular atrophy, also known as PCH1, is a group of autosomal recessive disorders characterized by generalized muscle weakness and global developmental delay commonly resulting in early death. Gene defects had been discovered only in single patients until the recent identification of EXOSC3 mutations in several families with relatively mild course of PCH1. We aim to genetically stratify subjects in a large and well-defined cohort to define the clinical spectrum and genotype-phenotype correlation.

Complications related to cement leakage in sacroplasty.

Data concerning the safety of sacroplasty in terms of cement leakage is scarce. Frequency, distribution patterns and clinical consequences of cement leakage were assessed in 33 patients (28 female, mean age: 74 +/- 10 yrs; bilateral SIF: n = 30, 63 sacroplasties) treated with sacroplasty between 06/2003 and 11/2010 in a retrospective study using patients' records, operative notes and postoperative radiographs. Cement leakage was noted within the fracture gap (27%), into veins (6%), neuroforamina (3%) or in the intervertebral disc space L5/S1 (2%).

Partial tetraplegic syndrome as a complication of a mobilizing/manipulating procedure of the cervical spine in a man with Forestier's disease: a case report.

Introduction: Even if performed by qualified physical therapists, spinal manipulation and mobilization can cause adverse events. This holds true particularly for the cervical spine. In light of the substantial risks, the benefits of cervical spine manipulation may be outweighed by the possibility of further injury.

Minimal-invasive percutaneous reduction and transsacral screw fixation for U-shaped fractures.

Study Design: Technical note and case series.

Objective: To introduce an innovative minimal-invasive surgical procedure reducing surgery time and blood loss in management of U-shaped sacrum fractures.

Summary Of Background: Despite their seldom appearance, U-shaped fractures can cause severe neurological deficits and surgical management difficulties.

Cognitive functioning, behavior, and quality of life after stroke in childhood.

Rationale: To provide a better understanding of cognitive functioning, motor outcome, behavior and quality of life after childhood stroke and to study the relationship between variables expected to influence rehabilitation and outcome (age at stroke, time elapsed since stroke, lateralization, location and size of lesion).

Methods: Children who suffered from stroke between birth and their eighteenth year of life underwent an assessment consisting of cognitive tests (WISC-III, WAIS-R, K-ABC, TAP, Rey-Figure, German Version of the CVLT) and questionnaires (Conner's Scales, KIDSCREEN).

Results: Twenty-one patients after stroke in childhood (15 males, mean 11;11 years, SD 4;3, range 6;10-21;2) participated in the study.