Efficacy of a monovalent (D614) SARS-CoV-2 recombinant protein vaccine with AS03 adjuvant in adults: a phase 3, multi-country study.

Background: The literature on first generation COVID-19 vaccines show they were less effective against new SARS-CoV-2 variants of concern including Omicron (BA.1, BA.2, BA.

Efficacy of a bivalent (D614 + B.1.351) SARS-CoV-2 recombinant protein vaccine with AS03 adjuvant in adults: a phase 3, parallel, randomised, modified double-blind, placebo-controlled trial.

Background: COVID-19 vaccines with alternative strain compositions are needed to provide broad protection against newly emergent SARS-CoV-2 variants of concern. This study aimed to describe the clinical efficacy and safety of a bivalent SARS-CoV-2 recombinant protein vaccine as a two-injection primary series during a period of circulation of the omicron (B.1.

A burning question from the first international BPAN symposium: is restoration of autophagy a promising therapeutic strategy for BPAN?

Beta-propeller protein-associated neurodegeneration (BPAN) is a rare neurodegenerative disease associated with severe cognitive and motor deficits. BPAN pathophysiology and phenotypic spectrum are still emerging due to the fact that mutations in the (WD repeat domain 45) gene, a regulator of macroautophagy/autophagy, were only identified a decade ago. In the first international symposium dedicated to BPAN, which was held in Lyon, France, a panel of international speakers, including several researchers from the autophagy community, presented their work on human patients, cellular and animal models, carrying mutations and their homologs.

Classification Performance of the Ages and Stages Questionnaire: Influence of Maternal Education Level.

(1) Background: The Ages and Stages Questionnaire-Third Edition (ASQ-3) is a parental screening questionnaire increasingly being used to evaluate the development of preterm children. We aimed to assess the classification performance of the ASQ-3 in preterm infant follow-up. (2) Methods: In this cross-sectional study, we included 185 children from the SEVE longitudinal cohort born <33 weeks of gestational age between November 2011 and January 2018, who had both an ASQ-3 score at 24 months of corrected age (CA) and a revised Brunet-Lézine (RBL) scale score at 30 months of CA.

Abnormal accumulation of lipid droplets in neurons induces the conversion of alpha-Synuclein to proteolytic resistant forms in a Drosophila model of Parkinson's disease.

Parkinson's disease (PD) is a neurodegenerative disorder characterized by alpha-synuclein (αSyn) aggregation and associated with abnormalities in lipid metabolism. The accumulation of lipids in cytoplasmic organelles called lipid droplets (LDs) was observed in cellular models of PD. To investigate the pathophysiological consequences of interactions between αSyn and proteins that regulate the homeostasis of LDs, we used a transgenic Drosophila model of PD, in which human αSyn is specifically expressed in photoreceptor neurons.

Perinatal inflammation is associated with social and motor impairments in preterm children without severe neonatal brain injury.

Objective: To test the association between exposure to perinatal inflammation - i.e. clinical chorioamnionitis or early-onset neonatal infection - in preterm children without severe neonatal brain injury and neurodevelopmental outcome at 30 months of corrected age (CA).

3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region.

Heterogeneous clinical and neuropsychological features, such as intellectual disability, developmental and language delay, hypotonia, and, to a lesser extent, microcephaly that is present in about the half of the reported patients, characterize the 3q29 microduplication syndrome with usually a milder phenotype compared with the corresponding 3q29 microdeletion syndrome. The duplications described so far range from 2.3 Mb to 1.

Usability and utility of the CONSORT calculator for FSH starting doses: a prospective observational study.

This prospective, multicentre, observational study assessed usability and utility (co-primary endpoints) of the consistency in r-hFSH starting doses for individualized treatment (CONSORT) calculator in French routine clinical practice. Physicians first planned their recombinant human follicle-stimulating hormone (r-hFSH) starting dose. The CONSORT calculator was then used to recommend a starting dose.

Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment.

Interstitial 1p deletions are rare events. Very few cases of 1p31.1p31.

Periventricular nodular heterotopia in Smith-Magenis syndrome.

Smith-Magenis syndrome (SMS) is caused by an interstitial microdeletion of chromosome 17p11.2. A few patients with the typical SMS phenotype have RAI1 gene mutations.

A dynamic analysis of muscle fusion in the chick embryo.

Skeletal muscle development, growth and regeneration depend upon the ability of muscle cells to fuse into multinucleated fibers. Surprisingly little is known about the cellular events that underlie fusion during amniote development. Here, we have developed novel molecular tools to characterize muscle cell fusion during chick embryo development.

Interstitial 2q24.3 deletion including SCN2A and SCN3A genes in a patient with autistic features, psychomotor delay, microcephaly and no history of seizures.

Mutations in neuronal voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A may play an important role in the etiology of neurological diseases and psychiatric disorders, besides various types of epilepsy. Here we describe a 3-year-old boy with autistic features, language delay, microcephaly and no history of seizures. Array-CGH analysis revealed an interstitial deletion of ~291.

Anti-NMDAR encephalitis misdiagnosed as Hashimoto's encephalopathy.

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a well-defined autoimmune disorder. Hashimoto's encephalopathy (HE) is a still controversial entity, lacking definite diagnostic criteria. We described a 14-year-old-girl presenting with a clinical picture consistent with the diagnosis of anti-NMDAR encephalitis, confirmed by NMDAR antibody testing.

Secondary headache in children.

Headache is one of the most common health complaints in children and adolescents. The initial assessment of acute headache aims to recognize whether there is a secondary cause for headache. According to the literature, the secondary headaches due to non-life-threatening diseases are the most frequent ones in pediatrics.

The timing of emergence of muscle progenitors is controlled by an FGF/ERK/SNAIL1 pathway.

In amniotes, the dermomyotome is the source of all skeletal muscles of the trunk and the limbs. Trunk skeletal muscles form in two sequential stages: in the first stage, cells located at the four borders of the epithelial dermomyotome delaminate to generate the primary myotome, composed of post-mitotic, mononucleated myocytes. The epithelio-mesenchymal transition (EMT) of the central dermomyotome initiates the second stage of muscle formation, characterised by a massive entry of mitotic muscle progenitors from the central region of the dermomyotome into the primary myotome.

[Headache in a pediatric emergency department].

Introduction: Headache, a very frequent symptom in pediatrics, can severely affect the child and his family's life quality, representing an important reason of access to a Pediatric Emergency Department. From a clinical point of view, it is useful to subdivide headaches in primary and secondary ones. As far as the primary ones are concerned, the common migraine without aura is recognised as the most frequent in the child, while the most recurrent among the second ones are due to infective processes, and they represent 57% of the patients admitted to ED for headache with acute onset.

Erratum to: Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

The complete affiliations of two authors appeared incorrectly. The affiliations of A. Selicorni and D.

Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

Cohen syndrome is an autosomal recessive disorder with variability in the clinical manifestations, characterized by developmental delay, visual disability, facial dysmorphisms and intermittent neutropenia. We described a cohort of 10 patients affected by Cohen syndrome from nine Italian families ranging from 5 to 52 years at assessment. Characteristic age related facial changes were well documented.

Metabolic and genetic risk factors for migraine in children.

Migraine can induce ischaemic stroke, and is considered an independent risk factor for stroke in the young. To date, the nature of the link between migraine and stroke is essentially unknown. Forty-five children were studied.

Long-lasting myopathy as a major clinical feature of sarcoidosis in a child: case report with a 7-year follow-up.

Muscle involvement in sarcoidosis is rarely described as the predominant feature and muscular symptoms are seldom observed. In recent pediatric series, sarcoid myopathy was no longer considered a typical aspect of sarcoidosis. The authors report a case of sarcoidosis in a patient presenting predominant muscular symptoms since childhood, due to biopsy-proven muscle localization.

Four year follow-up of a case of fucosidosis treated with unrelated donor bone marrow transplantation.

Fucosidosis is a rare autosomal recessive lysosomal disorder caused by alpha-fucosidase deficiency. We report a child with fucosidosis, second daughter of non-consanguineous parents, for whom biochemical diagnosis followed clinical evidence of the disease in her older sister. Based on previous experiences, the indication to transplant was considered.

[Early autism and congenital muscular dystrophy: a clinical case].

The authors describe the case of a twelve-year-old patient presenting early autism associated with congenital muscular dystrophy--subtype IV, according to the subclassification of Fukuyama (slight mental retardation, ability to walk, muscle pseudohypertrophy). To our knowledge, this association has never been reported. Several factors may have played a causative role in the development of an autistic disorder in the patient.