HLA Polymorphism in Regressive and Non-Regressive Autism: A Preliminary Study.

Autism spectrum disorders (ASD) comprises heterogeneous neurodevelopmental conditions with symptom onset usually during infancy. However, about 10%-30% of affected cases experience a loss of language and social skills around 18-30 months, so-called regressive autism. In this subset with regression, immune dysfunctions including inflammation and autoimmunity have been proposed to be at risk factors.

CELSR2 is a candidate susceptibility gene in idiopathic scoliosis.

A Swedish pedigree with an autosomal dominant inheritance of idiopathic scoliosis was initially studied by genetic linkage analysis, prioritising genomic regions for further analysis. This revealed a locus on chromosome 1 with a putative risk haplotype shared by all affected individuals. Two affected individuals were subsequently exome-sequenced, identifying a rare, non-synonymous variant in the CELSR2 gene.

Pooled efficacy and safety of eslicarbazepine acetate as add-on treatment in patients with focal-onset seizures: Data from four double-blind placebo-controlled pivotal phase III clinical studies.

Purpose: Pooled evaluation of the key efficacy and safety profile of eslicarbazepine acetate (ESL) added-on to stable antiepileptic therapy in adults with focal-onset seizures.

Methods: Data from 1703 patients enrolled in four phase III double-blind, randomized, placebo-controlled studies were pooled and analyzed. Following a 2 week titration period, ESL was administered at 400 mg, 800 mg, and 1200 mg once-daily doses for 12 weeks (maintenance period).

Central lumbar spinal stenosis: natural history of non-surgical patients.

Purpose: The aim of the present study was to examine the natural history in patients with lumbar spinal stenosis. The incidence of surgery for this condition has increased considerably during the past decades in spite of a fairly favorable natural history in previous studies.

Methods: 146 consecutive patients with clinical signs and image findings of lumbar spinal stenosis, who were not recommended surgical treatment, were followed; the reason as to why surgery was not recommended was a moderate symptom level.

Vertebral Body Stapling versus Bracing for Patients with High-Risk Moderate Idiopathic Scoliosis.

Purpose: We report a comparison study of vertebral body stapling (VBS) versus a matched bracing cohort for immature patients with moderate (25 to 44°) idiopathic scoliosis (IS).

Methods: 42 of 49 consecutive patients (86%) with IS were treated with VBS and followed for a minimum of 2 years. They were compared to 121 braced patients meeting identical inclusion criteria.

Referral patterns, treatment and outcome of high-grade malignant bone sarcoma in Scandinavia--SSG Central Register 25 years' experience.

Aims: The objectives of this study were to present changes in referral patterns, treatment and survival in patients with high-grade malignant bone sarcoma in Sweden and Norway based on data in the Scandinavian Sarcoma Group (SSG) Central Register.

Method: Data on 1,437 patients with diagnosis 1986-2010 was analyzed.

Results: Osteosarcoma was the most frequentl diagnosis (45%), followed by Ewing sarcoma (21%) and chondrosarcoma (17%).

Incidence and risk factors of late in-the-bag intraocular lens dislocation: evaluation of 140 eyes between 1992 and 2012.

Purpose: To identify risk factors for late in-the-bag intraocular lens (IOL) dislocation and estimate the incidence of this condition over a 21-year period.

Setting: Department of Ophthalmology, County Hospital of Värmland, Karlstad, Sweden.

Design: Retrospective cohort study and nested case-control study.

Candidate gene analysis and exome sequencing confirm LBX1 as a susceptibility gene for idiopathic scoliosis.

Background Context: Idiopathic scoliosis is a spinal deformity affecting approximately 3% of otherwise healthy children or adolescents. The etiology is still largely unknown but has an important genetic component. Genome-wide association studies have identified a number of common genetic variants that are significantly associated with idiopathic scoliosis in Asian and Caucasian populations, rs11190870 close to the LBX1 gene being the most replicated finding.

Sympathetic single axonal discharge after spinal cord injury in humans: activity at rest and after bladder stimulation.

Study Design: Clinical experimental mechanistic study.

Objectives: (1) To determine in three spinal cord-injured patients whether individual muscle sympathetic nerve fibres below the level of the spinal lesion display spontaneous activity. (2) To determine in these patients if individual sympathetic vasoconstrictor fibres show a prolonged discharge following a bladder stimulus.

Viscerosympathetic reflexes in human spinal cord injury: relationships between detrusor pressure, blood pressure and skin blood flow during bladder distension.

Autonomic dysreflexia, a dangerous and sustained increase in blood pressure brought about by widespread, reflexly generated vasoconstriction, can be induced by visceral or somatic sensory inputs originating below the lesion following spinal cord injury (SCI). We assessed whether cutaneous vasoconstriction below the lesion could serve as a proxy marker of incipient autonomic dysreflexia during bladder distension. Skin blood flow (pulse plethysmography), sweat release, blood pressure, heart rate, bladder and rectal pressures were recorded during routine cystometry (urodynamics) in 16 patients with SCI.

Eslicarbazepine acetate as adjunctive therapy in adult patients with partial epilepsy.

Objective: To investigate the efficacy and safety of once-daily eslicarbazepine acetate (ESL) when used as add-on treatment in adults with > or = 4 partial-onset seizures per 4-week despite treatment with 1 to 3 antiepileptic drugs (AEDs).

Methods: This double-blind, parallel-group, multicenter study consisted of an 8-week observational baseline period, after which patients were randomized to placebo (n=100) or once-daily ESL 400 mg (n=96), 800 mg (n=101), or 1200 mg (n=98). Patients then entered a 14-week double-blind treatment phase.

Validity of a computer touch-screen questionnaire system in back patients.

Study Design: Validation study.

Objective: A system for patient self-recording on a computer touch-screen was developed. The validity of this method compared with the use of regular paper-and-pen questionnaires was studied.

Pelvic osteotomy and symphysis reconstruction in bladder exstrophy: Early (2-6 years) results with a new (Double Door) symphysis reconstruction.

Objectives: To describe the 2-6-years follow up of a combination of oblique pelvic osteotomies and a new method for symphysis reconstruction, with the aim of creating a stable pelvic ring that will not widen during growth.

Materials And Methods: Five children were operated on between 1998 and 2003 at the age of 2 days to 8 months. One child had a cloacal exstrophy.

Topiramate monotherapy in the treatment of newly or recently diagnosed epilepsy.

Background: The efficacy of topiramate (TPM) as an adjunctive treatment for epilepsy has been established in placebo-controlled clinical trials. Clinical trials of antiepileptic monotherapy usually evaluate low and high doses of study drug or compare study drug with another active agent.

Objective: This article reviews available evidence for the use of TPM as monotherapy in patients with newly or recently diagnosed epilepsy.

Surgical results in hidden lumbar spinal stenosis detected by axial loaded computed tomography and magnetic resonance imaging: an outcome study.

Study Design: An outcome study of patients with neurogenic claudication and/or sciatica with hidden stenosis, detected only by axial loading of the lumbar spine (ACE) but not at the traditional unloaded examination (psoas relaxed position) during computed tomography (CT) myelography or magnetic resonance imaging (MRI), followed up after surgery.

Objective: To estimate the clinical effect of decompression with or without fusion in patients with hidden stenosis in the lumbar spine.

Summary Of Background Data: A number of patients with neurogenic claudicatio with or without sciatica do not have corresponding imaging abnormalities.

The importance of improved nasal breathing: a review of the Nozovent nostril dilator.

The Nozovent nostril dilator improves nasal breathing to the same degree as topical decongestants and reduces mouth dryness at night in 51% of nocturnal mouth breathers. It does not help every snorer but reduces the snoring heard by the sleeping partner in about 50%, improves the respiratory disturbance index significantly in 19% and gives less morning and daytime tiredness in 40% of snorers. The medium CPAP pressure can be significantly reduced with the dilator.

Comparison of Cobb angles in idiopathic scoliosis on standing radiographs and supine axially loaded MRI.

Study Design: Prospective, patient controlled.

Objective: To compare Cobb angles in idiopathic scoliosis between standing radiographs and a nonradiographic procedure.

Summary Of Background Data: Repeated radiographic examinations at young age may increase the risk for breast cancer in adulthood.

Regulation of sympathetic nerve traffic to skeletal muscle in resting humans.

An overview is given of microneurographic studies of resting vasoconstrictor traffic in human muscle nerves (muscle sympathetic nerve activity = MSNA). In multiunit recordings, the activity consists of synchronized bursts of vasoconstrictor impulses, the outflow of which is under potent arterial baroreflex control. In agreement with this, the bursts always display cardiac rhythmicity and occur during temporary reductions of blood pressure.

Longterm survival of transplanted human corneal epithelial cells and corneal stem cells.

Purpose: To investigate the survival of donor-derived epithelial cells in conventional penetrating keratoplasty (PKP) and in homologous penetrating central limbal keratoplasty (HPCLK).

Methods And Patients: Epithelial cells from 26 eyes of 26 patients were analysed. All cases were sex-mismatched (i.

VNS Therapy versus the latest antiepileptic drug.

Pro AED: The central issue in medical decision-making is risk-benefit assessment. Surgery of any type is still considered to be a major undertaking. To warrant these risks, the patient has a right to expect that they have a greater chance of a good outcome with an invasive therapy than with a non-invasive one.