Atypical presentation of sunflower epilepsy featuring an EEG pattern of continuous spike waves during slow-wave sleep.

Sunflower epilepsy is a rare photosensitive and commonly pharmacoresistant reflex epilepsy characterized by stereotyped seizures involving turning of the head towards light, similar to a sunflower turning towards the sun, and waving of the hands in front of the eyes, sometimes followed by absence seizures, myoclonic jerks, and tonic-clonic seizures. In the original description, seizures in sunflower epilepsy have been perceived as self-induced, but contemporary case series suggest that hand waving corresponds to an ictal phenomenon and not to a precipitating factor. We describe a nine-year-old girl featuring absence seizures with eye rolling or fluttering associated with hand waving movements.

Very preterm birth and cognitive control: The mediating roles of motor skills and physical fitness.

The neurophysiological mechanisms underlying executive function deficits in very preterm born children still remain unclear. Moreover, evidence on factors that can be modified by behavior and exert an influence on these deficits is lacking. The present case-control study examined the association between very preterm birth and neurophysiological indices of response inhibition (i.

Incidence and outcomes of symptomatic neonatal arterial ischemic stroke.

Background And Objectives: Neonatal arterial ischemic stroke (NAIS) is associated with considerable lifetime burdens such as cerebral palsy, epilepsy, and cognitive impairment. Prospective epidemiologic studies that include outcome assessments are scarce. This study aimed to provide information on the epidemiology, clinical manifestations, infarct characteristics, associated clinical variables, treatment strategies, and outcomes of NAIS in a prospective, population-based cohort of Swiss children.

Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy.

Unlabelled: We describe a 5-year-old girl with marked hypotonia, poor feeding and reduced facial expression since birth. Congenital myopathy was suspected; muscle biopsy showed unspecific type 1 fibre predominance. The possibility of a ryanodine receptor 1 gene (RYR1)-associated myopathy was considered, but not further investigated.

A novel combined surgical approach to head and neck dermatofibrosarcoma protuberans.

Introduction: The surgical management of dermatofibrosarcoma protuberans has historically been a challenge, particularly in the head and neck and other aesthetic areas. The current priority is to achieve local oncologic control and a good reconstructive outcome. Here, we present our experience using a novel combined approach with a dermal regenerative template, sub-atmospheric pressure and skin graft.

High resolution array in the clinical approach to chromosomal phenotypes.

Array genomic hybridization (AGH) has recently been implemented as a diagnostic tool for the detection of submicroscopic copy number variants (CNVs) in patients with developmental disorders. However, there is no consensus regarding the choice of the platform, the minimal resolution needed and systematic interpretation of CNVs. We report our experience in the clinical diagnostic use of high resolution AGH up to 100 kb on 131 patients with chromosomal phenotypes but previously normal karyotype.

Vacuum-assisted closure, dermal regeneration template and degloved cryopreserved skin as useful tools in subtotal degloving of the lower limb.

The standard management of degloving injuries involves either immediate grafting with the avulsed skin or full- or split-thickness grafts at a later date. Alternative methods include pedicle and free flaps and revascularisation. The authors present an innovative technique of treating degloving injuries with cryopreserved split-thickness skin grafts harvested from degloved flap, artificial dermal replacement and vacuum-assisted closure (VAC therapy).

Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).

Dihydropyrimidine dehydrogenase (DPD) deficiency is an infrequently described autosomal recessive disorder of the pyrimidine degradation pathway and can lead to mental and motor retardation and convulsions. DPD deficiency is also known to cause a potentially lethal toxicity following administration of the antineoplastic agent 5-fluorouracil. In an ongoing study of 72 DPD deficient patients, we analysed the molecular background of 5 patients in more detail in whom initial sequence analysis did not reveal pathogenic mutations.

Circumferential abdominoplasty.

Background: In Italy, 34.2% of the population has a BMI higher than 25, and another 9.8% of the population has a BMI higher than 30.

Autologous lipofilling: coenzyme Q10 can rescue adipocytes from stress-induced apoptotic death.

Background: Autologous fat transplantation (or lipofilling) is an excellent technique for correction of cosmetic defects. The success of the procedure relies strongly on the techniques of harvesting and transferring viable adipocytes. The purpose of this study was to evaluate effects of two harvesting methods and coenzyme Q10 on the viability and apoptotic death of adipocytes collected for autologous lipofilling.

Quality of life and psychological adjustment in children and adolescents with neurofibromatosis type 1.

Objective: To assess quality of life (QoL) and psychological adjustment in children and adolescents with neurofibromatosis type 1 (NF1).

Study Design: Forty-six patients with NF1 were investigated between the ages of 7 and 16 years (mean, 11.6 years), with children and parents used as informants.