Mechanography in children: pediatric references in postural control.

Objective: To establish pediatric age- and sex-specific references for measuring postural control with a mechanography plate in a single centre, prospective, normative data study.

Methods: 739 children and adolescents (396 male/343 female) aged 4 to 17 years were studied. Each participant completed the following test sequence three times: Romberg, semi-tandem, tandem, each with eyes open and closed, and a one-leg stand with eyes open, and a single two-legged jump.

Make Bayley III Scores Comparable between United States and German Norms-Development of Conversion Equations.

Aim: Bayley Scales of Infant and Toddler Development (Bayley-III) determines scaled scores and converts these into composite scores. It was shown that applying the German and the U.S.

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group.

Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired glucose transport across brain tissue barriers. Glucose diffusion across tissue barriers is facilitated by a family of proteins including glucose transporter type 1 (Glut1). Patients are treated effectively with ketogenic diet therapies (KDT) that provide a supplemental fuel, namely ketone bodies, for brain energy metabolism.

10 patients, 10 years - Long term follow-up of cardiovascular risk factors in Glut1 deficiency treated with ketogenic diet therapies: A prospective, multicenter case series.

Background And Aims: Glut1 Deficiency (Glut1D) is caused by impaired glucose transport into brain. The resulting epileptic encephalopathy and movement disorders can be treated effectively by high-fat carbohydrate-restricted ketogenic diet therapies (KDT) mimicking fasting and providing ketones as an alternative cerebral fuel. Recently 6-24 months follow-ups of epileptic patients reported elevated blood lipids and intima thickening of the carotid artery raising concerns about potential cardiovascular risks by KDT.

Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.

Background: The X-linked creatine transporter deficiency (CRTD) caused by an SLC6A8 mutation represents the second most common cause of X-linked intellectual disability. The clinical phenotype ranges from mild to severe intellectual disability, epilepsy, short stature, poor language skills, and autism spectrum disorders. The objective of this study was to investigate phenotypic variability in the context of genotype, cerebral creatine concentration, and volumetric analysis in a family with CRTD.

Paroxysmal Nonepileptic Events in Glut1 Deficiency.

View Supplementary Video Movement disorders are a major feature of Glut1 deficiency. As recently identified in adults with paroxysmal exercise-induced dystonia, similar events were reported in pediatric Glut1 deficiency. In a case series, parent videos of regular motor state and paroxysmal events were requested from children with Glut1 deficiency on clinical follow-up.

Severe Hypertriglyceridemia in Glut1D on Ketogenic Diet.

High-fat ketogenic diets are the only treatment available for Glut1 deficiency (Glut1D). Here, we describe an 8-year-old girl with classical Glut1D responsive to a 3:1 ketogenic diet and ethosuximide. After 3 years on the diet a gradual increase of blood lipids was followed by rapid, severe asymptomatic hypertriglyceridemia (1,910 mg/dL).

Oligoclonal bands predict multiple sclerosis in children with optic neuritis.

We retrospectively evaluated predictors of conversion to multiple sclerosis (MS) in 357 children with isolated optic neuritis (ON) as a first demyelinating event who had a median follow-up of 4.0 years. Multiple Cox proportional-hazards regressions revealed abnormal cranial magnet resonance imaging (cMRI; hazard ratio [HR] = 5.

PRRT2-related disorders: further PKD and ICCA cases and review of the literature.

Recent studies reported mutations in the gene encoding the proline-rich transmembrane protein 2 (PRRT2) to be causative for paroxysmal kinesigenic dyskinesia (PKD), PKD combined with infantile seizures (ICCA), and benign familial infantile seizures (BFIS). PRRT2 is a presynaptic protein which seems to play an important role in exocytosis and neurotransmitter release. PKD is the most common form of paroxysmal movement disorder characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements.

Ultrasound-guided neuronavigation improves safety of ventricular catheter insertion in preterm infants.

Background: Intra-ventricular hemorrhage (IVH) is a frequent cause of shunt-dependent hydrocephalus. The management of IVH in preterm babies remains a challenge both for neonatologists and pediatric neurosurgeons, compounded by the lack of low-risk, validated therapy techniques.

Objective: The aim of this study was to evaluate the feasibility and safety of a novel technique involving the ultrasound-guided placement of a central catheter connected with a Rickham-Capsule in a cohort of preterm, low-birth-weight babies with post-hemorrhagic hydrocephalus (PHH).

Expression of Epstein-Barr virus (EBV)-encoded latent membrane proteins and STAT3 activation in nasopharyngeal carcinoma.

The Epstein-Barr virus (EBV) is associated with virtually all cases of undifferentiated nasopharyngeal carcinoma (NPC), and it was proposed that the EBV-encoded transforming protein, latent membrane protein (LMP) 1, may play a role in the neoplastic process. It was proposed recently that LMP1 expression in epithelial cells may be regulated through a loop involving activated signal transducer and activator of transcription 3 (STAT3), LMP1, LMP1-mediated induction of interleukin (IL)-6 expression and STAT3 activation through the IL-6 receptor. This autoregulatory loop may be suppressed by another viral protein, LMP2A, an effect which in turn can be overcome by exogenous IL-6.

Expression of the Epstein-Barr virus (EBV)-encoded latent membrane protein 2A (LMP2A) in EBV-associated nasopharyngeal carcinoma.

The Epstein-Barr virus (EBV) is associated with virtually all cases of undifferentiated nasopharyngeal carcinoma (NPC) and has been classified as a group I carcinogen. In addition to its potential role in the pathogenesis of NPC, EBV also provides a possible target for immunotherapy of NPC, since a limited number of viral genes are expressed in the neoplastic cells. The EBV-encoded latent membrane protein 2A (LMP2A) is considered a promising target since it provides epitopes recognized by EBV-specific T-cells.