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IntroductionAmong girls assessed for pubertal precocity, pelvic ultrasound (pUS) may represent a pivotal tool to predict the time expected to elapse between sonographic assessment and the onset of menarche (TUS-M). Accordingly, the present analysis is meant to define the statistical relationship between sonographic parameters and TUS-M, in order to identify the most reliable predictor of the timing of menarche.MethodsRetrospective, multicenter analysis. Girls assessed for sexual precocity and showing sonographic and clinical findings consistent with pubertal onset upon referral were considered eligible. Patients treated with GnRH analogues were excluded and only those who had subsequently achieved complete and spontaneous pubertal attainment and for whom the exact date of menarche was available were included. Overall, we enrolled 184 girls from five tertiary care Italian Centers.ResultsThe time elapsed (months) between baseline endocrine assessment and spontaneous achievement of menarche showed a negative statistically significant correlation (p

Abstract Objectives Pathogenic variants in AIFM1 have been associated with a wide spectrum of disorders, spanning from CMT4X to mitochondrial encephalopathy. Here we present a novel phenotype and review the existing literature on AIFM1‐related disorders. Methods We performed EEG recordings, brain MRI and MR Spectroscopy, metabolic screening, echocardiogram, clinical exome sequencing (CES) and family study. Effects of the variant were established on cultured fibroblasts from skin punch biopsy. Results The patient presented with drug‐resistant, electro‐clinical, multifocal seizures 6 h after birth. Brain MRI revealed prominent brain swelling of both hemispheres and widespread signal alteration in large part of the cortex and of the thalami, with sparing of the basal nuclei. CES analysis revealed the likely pathogenic variant c.5T>C; p.(Phe2Ser) in the AIFM1 gene. The affected amino acid residue is located in the mitochondrial targeting sequence. Functional studies on cultured fibroblast showed a clear reduction in AIFM1 protein amount and defective activities of respiratory chain complexes I, III and IV. No evidence of protein mislocalization or accumulation of precursor protein was observed. Riboflavin, Coenzyme Q10 and thiamine supplementation was therefore given. At 6 months of age, the patient exhibited microcephaly but did not experience any further deterioration. He is still fed orally and there is no evidence of muscle weakness or atrophy. Interpretation This is the first AIFM1 case associated with neonatal seizures and diffuse white matter involvement with relative sparing of basal ganglia, in the absence of clinical signs suggestive of myopathy or motor neuron disease.

Emotions and empathy contribute to the development and formation of all people. These factors are most decisive in the developmental stages where the role of stimuli from the environment is also a determining factor. From this maxim, we present a paper that investigates a group of school pupils’ process of transformation regarding their emotional perspective of themselves and the situation that they have had to live through: that of the COVID-19 (SARS-CoV-2) pandemic. Taking into account that the focus of this research is the most significant moments in terms of emotional perception and the primary school students themselves, we deduce that evaluations can be carried out repeatedly and specific situations can be analysed. Consequently, we opt for a qualitative methodology with a single case study method. From this point and the data collected, the results relate to the dif-ferent phases that correspond with the most important events which steer us inevitably towards a “new normality”. Here we refer to events from the ceasing of all activities and free movement (March 2020) to the new situation one year later of inoculations by different vaccines (March 2021).