Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.

Objective: Mutations in one of the 3 genes encoding collagen VI (COLVI) are responsible for a group of heterogeneous phenotypes of which Bethlem myopathy (BM) represents the milder end of the spectrum. Genotype-phenotype correlations and long-term follow-up description in BM remain scarce.

Methods: We retrospectively evaluated the long-term clinical evolution, and genotype-phenotype correlations in 35 genetically identified BM patients (23 index cases).

Disruption of the LTD dialogue between the cerebellum and the cortex in Angelman syndrome model: a timing hypothesis.

Angelman syndrome (AS) is a genetic neurodevelopmental disorder in which cerebellar functioning impairment has been documented despite the absence of gross structural abnormalities. Characteristically, a spontaneous 160 Hz oscillation emerges in the Purkinje cells network of the Ube3a (m-/p+) Angelman mouse model. This abnormal oscillation is induced by enhanced Purkinje cell rhythmicity and hypersynchrony along the parallel fiber beam.

[Efficacy and safety of tranexamic acid administration for the prevention and/or the treatment of post-partum haemorrhage: a systematic review with meta-analysis].

Objective(s): Assess the efficacy and safety of tranexamic acid administration for the prevention and/or the treatment of postpartum haemorrhage.

Study Design: Systematic review with meta-analysis.

Material And Methods: Systematic review of the literature with the aim of identifying prospective, randomised, controlled trials that assessed the effect of tranexamic acid on peripartum blood loss and transfusion requirement in three clinical contexts: (i) prevention of post-partum haemorrhage in case of elective caesarean section, (ii) prevention of post-partum haemorrhage in case of vaginal delivery, (iii) treatment of post-partum haemorrhage.

[Management of onychomycosis].

Onychomycosis accounts for half of all nail pathologies. Never prescribe a local or a systemic antifungal without confirmation of the diagnosis. The quality of the sampling is the cornerstone of mycological analysis.

Formulation of budesonide mouthwash for the treatment of oral chronic graft-versus-host disease.

Oral involvement is (very) common in chronic graft-versus-host disease and can cause discomfort and impairment of oral function. Budesonide, a highly potent corticosteroid with low systemic activity, can be used as a topical treatment for oral chronic graft-versus-host disease. We describe the development of a formulation of budesonide and sodium bicarbonate for use as mouthwash in patients with oral chronic graft-versus-host disease.

Overweight and obesity in PKU: The results from 8 centres in Europe and Turkey.

Introduction: In PKU there is little data comparing the prevalence of overweight and obesity in different countries. The aim of this cross sectional study was to evaluate prevalence data from different PKU treatment centres in Europe and Turkey.

Subjects And Methods: In children, body mass index (BMI) and z scores and in adults BMI were calculated in 947 patients (783 children aged < 19 years; 164 adults aged ≥ 19 years) with PKU from centres in Europe and Turkey (Ankara, Birmingham, Brussels, Copenhagen, Groningen, Madrid, Munich and Porto).

Physiological modules for generating discrete and rhythmic movements: action identification by a dynamic recurrent neural network.

In this study we employed a dynamic recurrent neural network (DRNN) in a novel fashion to reveal characteristics of control modules underlying the generation of muscle activations when drawing figures with the outstretched arm. We asked healthy human subjects to perform four different figure-eight movements in each of two workspaces (frontal plane and sagittal plane). We then trained a DRNN to predict the movement of the wrist from information in the EMG signals from seven different muscles.

Neural rhythmic symphony of human walking observation: Upside-down and Uncoordinated condition on cortical theta, alpha, beta and gamma oscillations.

Biological motion observation has been recognized to produce dynamic change in sensorimotor activation according to the observed kinematics. Physical plausibility of the spatial-kinematic relationship of human movement may play a major role in the top-down processing of human motion recognition. Here, we investigated the time course of scalp activation during observation of human gait in order to extract and use it on future integrated brain-computer interface using virtual reality (VR).

Reduction of the six-minute walk distance in children with sickle cell disease is correlated with silent infarct: results from a cross-sectional evaluation in a single center in Belgium.

Background: The 6-minute walk test (6 MWT) is used in adults and children affected by a wide range of chronic diseases to evaluate their sub-maximal exercise capacity. It reflects the global response of various physiological systems in a situation simulating a daily life activity.

Methods: We analyzed factors affecting the 6 MWT in 46 Sickle Cell Disease children.

Somatic mutations in cerebral cortical malformations.

Background: Although there is increasing recognition of the role of somatic mutations in genetic disorders, the prevalence of somatic mutations in neurodevelopmental disease and the optimal techniques to detect somatic mosaicism have not been systematically evaluated.

Methods: Using a customized panel of known and candidate genes associated with brain malformations, we applied targeted high-coverage sequencing (depth, ≥200×) to leukocyte-derived DNA samples from 158 persons with brain malformations, including the double-cortex syndrome (subcortical band heterotopia, 30 persons), polymicrogyria with megalencephaly (20), periventricular nodular heterotopia (61), and pachygyria (47). We validated candidate mutations with the use of Sanger sequencing and, for variants present at unequal read depths, subcloning followed by colony sequencing.

HIV transmission through breastfeeding: still possible in developed countries.

We describe here the case of a 13-month-old boy who acquired HIV infection postnatally through breastfeeding in a developed country in 2012. His mother had regular pregnancy follow-up and was found to be seronegative for HIV on 2 consecutive screening tests (during pregnancy and just after delivery). However, 1 year later, diagnosis of HIV infection arose in both of them after a pediatric emergency department visit for bronchitis when unexplained hepatosplenomegaly and inflammatory syndrome were noted.

Safety and usefulness of cryopreservation of ovarian tissue to preserve fertility: a 12-year retrospective analysis.

Study Question: Do the benefits of ovarian tissue cryopreservation outweigh the risks for patients seeking to preserve fertility before gonadotoxic treatment in various indications?

Summary Answer: In >90% of the patients undergoing cryopreservation of ovarian tissue, oncological treatment was associated with a reduced ovarian reserve and in 30% of patients, premature ovarian failure (POF) occurred within 5 years.

What Is Known Already: Ovarian tissue cryopreservation is an effective fertility preservation option, especially for pre-pubertal patients and patients who have a short time between diagnosis of a disease and gonadotoxic treatment.

Study Design, Setting, Duration: This study retrospectively analysed ovarian function and fertility recovery rates, as well as ovarian tissue characteristics, of patients who underwent ovarian tissue cryopreservation at Erasme Hospital between 1999 and 2011.

Eculizumab in anti-factor h antibodies associated with atypical hemolytic uremic syndrome.

Atypical hemolytic uremic syndrome (aHUS) is a life-threatening multisystemic condition often leading to end-stage renal failure. It results from an increased activation of the alternative pathway of the complement system due to mutations of genes coding for inhibitors of this pathway or from autoantibodies directed against them. Eculizumab is a monoclonal antibody directed against complement component C5 and inhibiting the activation of the effector limb of the complement system.

[Infant botulism after honey exposure].

Infant botulism is a rare neuroparalytic disease caused by the neurotoxin of Clostridium botulinum. Initial clinical features are constipation, poor feeding, descending hypotonia, drooling, irritability, weak crying and cranial nerve dysfunctions. We describe the clinical progression and the epidemiological investigation carried out in a 3-month-old infant.

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.

Pregnancy in women with inherited thrombocytopenias is a major matter of concern as both the mothers and the newborns are potentially at risk of bleeding. However, medical management of this condition cannot be based on evidence because of the lack of consistent information in the literature. To advance knowledge on this matter, we performed a multicentric, retrospective study evaluating 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.

[Palmoplantar neutrophilic eccrine hidradenitis with general extension in a child in remission after acute lymphoblastic leukemia].

Background: Neutrophilic eccrine hidradenitis (NEH) is a form of neutrophilic dermatitis characterized by tender erythematous and painful papules involving the trunk, extremities and face. The generalized form is associated with malignant hemopathies. The palmoplantar form occurs in children without any context of malignancy.

Preserved coupling between the reader's voice and the listener's cortical activity in autism spectrum disorders.

Purpose: Investigating the steadiness of the phase-coupling between the time-course of the reader's voice and brain signals of subjects with autism spectrum disorder (ASD) passively listening to connected speech using magnetoencephalography (MEG). In typically developed subjects, such coupling occurs at the right posterior temporal sulcus (pSTS) for frequencies below 1 Hz, and reflects the neural processing of sentence-level rhythmic prosody at the prelexical level.

Methods: Cortical neuromagnetic signals were recorded with MEG (Elekta Oy, Finland) while seven right-handed and native French-speaking ASD subjects (six males, one female, range: 13-20 years) listened to live (Live) or recorded (Recorded) voices continuously reading a text in French for five minutes.

Modulation of the N30 generators of the somatosensory evoked potentials by the mirror neuron system.

The N30 component of the somatosensory evoked potential is known to be modulated by sensory interference, motor action, movement ideation and observation. We introduce a new paradigm in which the observation task of another person's hand movement triggers the somatosensory stimulus, inducing the N30 response in participants. In order to identify the possible contribution of the mirror neuron network (MNN) to this early sensorimotor processing, we analyzed the N30 topography, the event-related spectral perturbation and the inter-trial coherence on single electroencephalogram (EEG) trials, and we applied swLORETA to localize the N30 sources implicated in the time-frequency domain at rest and during observation, as well as the generators differentiating these two contextual brain states.

Remifentanil versus morphine-midazolam premedication on the quality of endotracheal intubation in neonates: a noninferiority randomized trial.

Objective: To compare remifentanil and morphine-midazolam for use in nonurgent endotracheal intubation in neonates.

Study Design: In this prospective noninferiority randomized trial, newborns of gestational age ≥28 weeks admitted in the neonatal intensive care unit requiring an elective or semielective endotracheal intubation were divided into 2 groups. One group (n = 36) received remifentanil (1 μg/kg), and the other group (n = 35) received morphine (100 μg/kg) and midazolam (50 μg/kg) at a predefined time before intubation (different in each group), to optimize the peak effect of each drug.

Diagnostic approach to the congenital muscular dystrophies.

Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with histological features suggesting a dystrophic process. The congenital muscular dystrophies as a group encompass great clinical and genetic heterogeneity so that achieving an accurate genetic diagnosis has become increasingly challenging, even in the age of next generation sequencing. In this document we review the diagnostic features, differential diagnostic considerations and available diagnostic tools for the various CMD subtypes and provide a systematic guide to the use of these resources for achieving an accurate molecular diagnosis.