Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.

Anoctamins are a family of Ca-activated proteins that may act as ion channels and/or phospholipid scramblases with limited understanding of function and disease association. Here, we identified five de novo and two inherited missense variants in ANO4 (alias TMEM16D) as a cause of fever-sensitive developmental and epileptic or epileptic encephalopathy (DEE/EE) and generalized epilepsy with febrile seizures plus (GEFS+) or temporal lobe epilepsy. In silico modeling of the ANO4 structure predicted that all identified variants lead to destabilization of the ANO4 structure.

Comparison of Volumetric and 2D Measurements and Longitudinal Trajectories in the Response Assessment of V600E-Mutant Pediatric Gliomas in the Pacific Pediatric Neuro-Oncology Consortium Clinical Trial.

Background And Purpose: Response on imaging is widely used to evaluate treatment efficacy in clinical trials of pediatric gliomas. While conventional criteria rely on 2D measurements, volumetric analysis may provide a more comprehensive response assessment. There is sparse research on the role of volumetrics in pediatric gliomas.

A 3-year Retrospective Analysis of Dento-Alveolar Injuries at the University Children's Hospital Zurich (2018-2020).

Children and adolescents are vulnerable to dental trauma due to their active lifestyles, lack of coordination, and inexperience in recognizing potentially dangerous situations. Early recognition and proper management of dental trauma is crucial in order to minimize the risk of complications and ensure optimal outcomes. The aim of this study was to perform a retrospective analysis of all dento-alveolar injuries in children and adolescents who were treated at the University Children's Hospital Zurich from 2018-2020 by the resident physicians of the Centre of Dental Medicine of the University of Zurich.

Clustering trunk movements of children and adolescents with neurological gait disorders undergoing robot-assisted gait therapy: the functional ability determines if actuated pelvis movements are clinically useful.

Introduction: Robot-assisted gait therapy is frequently used for gait therapy in children and adolescents but has been shown to limit the physiological excursions of the trunk and pelvis. Actuated pelvis movements might support more physiological trunk patterns during robot-assisted training. However, not every patient is expected to react identically to actuated pelvis movements.

Single-Stage Tibial Osteotomy for Correction of Genu Varum Deformity in Children.

Conservative and operative treatments with gradual or acute correction of severe varus deformities of the leg have been described. We evaluated whether the corrective osteotomy used within the NGO Mercy Ships is an effective treatment for genu varum deformity of different etiologies in children and which patient specific factors have an influence on the radiographic outcome. In total, 208 tibial valgisation osteotomies were performed in 124 patients between 2013 and 2017.

Outcome Prognostic Factors in MRI during Spica Cast Therapy Treating Developmental Hip Dysplasia with Midterm Follow-Up.

Closed reduction followed by spica casting is a conservative treatment for developmental dysplasia of the hip (DDH). Magnetic resonance imaging (MRI) can verify proper closed reduction of the dysplastic hip. Our aim was to find prognostic factors in the first MRI to predict the possible outcome of the initial treatment success by means of ultrasound monitoring according to Graf and the further development of the hip dysplasia or risk of recurrence in the radiological follow-up examinations.

Process variations between Swiss units treating neonates with hypoxic-ischemic encephalopathy and their effect on short-term outcome.

Objective: To compare therapeutic hypothermia (TH) treatment of term and near-term neonates with hypoxic-ischemic encephalopathy (HIE) between neonatal units.

Study Design: Population-based, retrospective analysis of TH initiation and maintenance, and of diagnostic imaging. The comparison between units was based on crude data analysis, indirect standardization, and adjusted logistic regression.

Mass cytometry detects H3.3K27M-specific vaccine responses in diffuse midline glioma.

BACKGROUNDPatients with diffuse midline gliomas (DMGs), including diffuse intrinsic pontine glioma (DIPG), have dismal outcomes. We previously described the H3.3K27M mutation as a shared neoantigen in HLA-A*02.

Safety of the paramedian supracerebellar-transtentorial approach for selective amygdalohippocampectomy.

Objective: The goal of this study was to assess the reproducibility and safety of the recently introduced paramedian supracerebellar-transtentorial (PST) approach for selective amygdalohippocampectomy (SA).

Methods: The authors performed a retrospective analysis of prospectively collected data originating from their surgical register of patients undergoing SA via a PST approach for lesional medial temporal lobe epilepsy. All patients received thorough pre- and postoperative clinical (neurological, neuropsychological, psychiatric) and instrumental (ictal and long-term EEG, invasive EEG if needed, MRI) workup.

Pediatric Rehabilitation Therapies Differ in Intensity: A Pilot Study to Highlight the Implications for Dose-Response Relationships.

Objective: When investigating dose-response relationships in rehabilitation studies, dose is often equated with duration of therapy. However, according to the American College of Sports Medicine, dose consists of the factors frequency, intensity, time, and type. Thereby, especially quantification of intensity needs improvement to have a more precise estimate of the dose.

Correction to: The FreeD module for the Lokomat facilitates a physiological movement pattern in healthy people - a proof of concept study.

The original article [1] contains an error whereby the legends of Figs. 3 and 4 are erroneously swapped. As such, the correct configuration of these legends can be seen in the same figures below instead.

The FreeD module for the Lokomat facilitates a physiological movement pattern in healthy people - a proof of concept study.

Background: A contralateral pelvic drop, a transverse rotation and a lateral translation of the pelvis are essential features of normal human gait. These motions are often restricted in robot-assisted gait devices. The optional FreeD module of the driven gait orthosis Lokomat (Hocoma AG, Switzerland) incorporates guided lateral translation and transverse rotation of the pelvis.

Lung function improvement and airways inflammation reduction in asthmatic children after a rehabilitation program at moderate altitude.

Background: Rehabilitational programs at moderate altitude (1500-2500 m) showed improvement of lung function and reduction in airways inflammation in asthmatic adults. Allergen avoidance was postulated as the major cause of these improvements.

Methods: Spirometries of 344 and fractional exhaled nitric oxide measurements (FeNO) of 124 asthmatic children and adolescents, staying in a rehabilitation hospital in Davos (1590 m) with at least 14 days between admission and discharge, were analyzed in association with atopic sensitization (skin-prick testing and/or specific IgE), level of asthma control, and inhalative corticosteroid (ICS) dose.

Can Lokomat therapy with children and adolescents be improved? An adaptive clinical pilot trial comparing Guidance force, Path control, and FreeD.

Background: Robot-assisted gait therapy is increasingly being used in pediatric neurorehabilitation to complement conventional physical therapy. The robotic device applied in this study, the Lokomat (Hocoma AG, Switzerland), uses a position control mode (Guidance Force), where exact positions of the knee and hip joints throughout the gait cycle are stipulated. Such a mode has two disadvantages: Movement variability is restricted, and patients tend to walk passively.

Management of severe perioperative bleeding: guidelines from the European Society of Anaesthesiology: First update 2016.

: The management of perioperative bleeding involves multiple assessments and strategies to ensure appropriate patient care. Initially, it is important to identify those patients with an increased risk of perioperative bleeding. Next, strategies should be employed to correct preoperative anaemia and to stabilise macrocirculation and microcirculation to optimise the patient's tolerance to bleeding.

Pressure ulcers in maturing skin - A clinical perspective.

While the problem of Pressure Ulcers (PU) in adults has received a great deal of attention, far less is known about PUs in neonates and children. The overall health status of children is generally better and multi-morbidity is limited to a small percentage of patients, like very low term neonates (born before 32 weeks of gestation age), newborns with congenital abnormalities, genetic disorders, perinatal distress syndrome or children with a limited immunity. Survival rates of both critically and chronically ill neonates, infants and children have improved dramatically in recent years, introducing new challenges for medical and nursing care.

Management of severe congenital laryngeal webs - a 12 year review.

Objective: The aim of this study was to investigate respiratory and voice outcomes after open surgery for severe congenital laryngeal web.

Methods: Included were all patients treated for severe congenital glottic web (Cohen type 3 and 4) between 2002 and 2014. Demographic data, symptoms, endoscopic findings, type of operation, outcome and complications were analyzed.

Neurodevelopmental outcome in very low birthweight infants with pathological umbilical artery flow.

Objective: To assess neurodevelopmental outcome during toddlerhood in very low birthweight (VLBW) infants with absent or reverse end-diastolic flow (AREDF) in the umbilical artery (UA) during pregnancy.

Design: Retrospective cohort study with matched control group.

Setting: Tertiary perinatal centre.

Risk and associated factors of pressure ulcers in hospitalized children over 1 year of age.

Purpose: This study aimed to identify factors for the development of pressure ulcers (PU) in hospitalized patients between 1 and 18 years of age.

Design And Methods: A multicenter, descriptive, cross-sectional study in 13 hospitals was conducted in Switzerland.

Results: The prevalence of PUs in this population of 204 children was 26.

Leg surface electromyography patterns in children with neuro-orthopedic disorders walking on a treadmill unassisted and assisted by a robot with and without encouragement.

Background: Robot-assisted gait training and treadmill training can complement conventional physical therapy in children with neuro-orthopedic movement disorders. The aim of this study was to investigate surface electromyography (sEMG) activity patterns during robot-assisted gait training (with and without motivating instructions from a therapist) and unassisted treadmill walking and to compare these with physiological sEMG patterns.

Methods: Nine children with motor impairments and eight healthy children walked in various conditions: (a) on a treadmill in the driven gait orthosis Lokomat®, (b) same condition, with additional motivational instructions from a therapist, and (c) on the treadmill without assistance.

Neural activity in the hippocampus predicts individual visual short-term memory capacity.

Although the hippocampus had been traditionally thought to be exclusively involved in long-term memory, recent studies raised controversial explanations why hippocampal activity emerged during short-term memory tasks. For example, it has been argued that long-term memory processes might contribute to performance within a short-term memory paradigm when memory capacity has been exceeded. It is still unclear, though, whether neural activity in the hippocampus predicts visual short-term memory (VSTM) performance.