Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.

Haploinsufficiency of FOXP1 gene is responsible for a neurodevelopmental disorder presenting with intellectual disability (ID), autism spectrum disorder (ASD), hypotonia, mild dysmorphic features, and multiple congenital anomalies. Joint contractures are not listed as a major feature of FOXP1-related disorder. We report five unrelated individuals, each harboring likely gene disruptive de novo FOXP1 variants or whole gene microdeletion, who showed multiple joint contractures affecting at least two proximal and/or distal joints.

Left Ventricular Trabeculation: Arrhythmogenic and Clinical Significance in Elite Athletes.

Introduction: Left ventricular (LV) trabeculations (LVTs) are common findings in athletes. Limited information exists regarding clinical significance, management, and outcome.

Objectives: The purpose of this study is to examine the prevalence and morphologic characteristics of LVTs in elite athletes, with a focus on clinical correlates and prognostic significance.

The Impact of the COVID-19 Pandemic on Childhood Obesity and Lifestyle-A Report from Italy.

During the COVID-19 lockdown, especially in the first wave of pandemic (March 2020), sedentary lifestyle and calorie intake increase in children became considerably more prevalent. The aim of the present paper was to evaluate changes in children's weights and nutritional habits during the COVID-19 pandemic in Italy. In this cross-sectional observational study, for 3 years, as part of the corporate wellness program (2019-2021) in Emilia Romagna region of Italy, anthropometric data of Ferrari car company employers' children were collected, analyzed, and compared.

Acceptability and Practicality of a Quick Musculoskeletal Examination into Sports Medicine Pre-Participation Evaluation.

Background: Child musculoskeletal (MSK) diseases are common and, even if often benign, sometimes can lead to significant impairment in the future health of children. Italian pre-participation evaluation (PPE), performed by a sports medicine physician, allows for the screening of a wide range of children every year. Therefore, this study aims to evaluate the feasibility and the acceptability of pGALS (pediatric Gait, Arms, Legs and Spine) screening, a simple pediatric MSK screening examination, when performed as part of a routine PPE.

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.

Background: Postzygotic activating variants cause several phenotypes within the -related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific tissue involvement and overlapping disorders are responsible for disease heterogeneity. We explored these factors in 150 novel patients and in an expanded cohort of 1007 mutated patients, analysing our new data with previous literature to give a comprehensive picture.

Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.

Tetralogy of Fallot (ToF) can be associated with a wide range of extracardiac anomalies, with an underlying etiology identified in approximately 10% of cases. Individuals affected with Myhre syndrome due to recurrent SMAD4 mutations frequently have cardiovascular anomalies, including congenital heart defects. In addition to two patients in the literature with ToF, we describe five additional individuals with Myhre syndrome and classic ToF, ToF with pulmonary atresia and multiple aorto-pulmonary collaterals, and ToF with absent pulmonary valve.

Random Telegraph Noise in 3D NAND Flash Memories.

In this paper, we review the phenomenology of random telegraph noise (RTN) in 3D NAND Flash arrays. The main features of such arrays resulting from their mainstream integration scheme are first discussed, pointing out the relevant role played by the polycrystalline nature of the string silicon channels on current transport. Starting from that, experimental data for RTN in 3D arrays are presented and explained via theoretical and simulation models.

Unilateral testicular enlargement in a teenager with Beckwith-Wiedemann syndrome: a case report.

Background: Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder. A major feature is lateralized overgrowth, which can variably involve a single body district up to the entire hemisome. Visceral asymmetrical involvement has been observed, commonly represented by enlargement of one kidney or adrenal gland, rather than one gonad.

Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis.

In this paper, is reported the identification of two chimeric patients, a rare finding if sexual abnormalities are absent. However, their chimeric condition is responsible at least for the Silver-Russell phenotype observed in one of the two patients. By single nucleotide polymorphism-array analyses, it was possible to clearly define the mechanism responsible for this unusual finding, underlining the importance of this technique in bringing out the perhaps submerged world of chimeras.

Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy.

Breast cancer (BC) in men is rare and genetic predisposition is likely to play a relevant role in its etiology. Inherited mutations in BRCA1/2 account for about 13% of all cases and additional genes that may contribute to the missing heritability need to be investigated. In our study, a well-characterized series of 523 male BC (MBC) patients from the Italian multicenter study on MBC, enriched for non-BRCA1/2 MBC cases, was screened by a multigene custom panel of 50 cancer-associated genes.

Contribution of Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy.

Inherited mutations in , and, mainly, genes are associated with increased risk of male breast cancer (MBC). Mutations in and genes may also increase MBC risk. Overall, these genes are functionally linked to DNA repair pathways, highlighting the central role of genome maintenance in MBC genetic predisposition.

Learning of spatiotemporal patterns in a spiking neural network with resistive switching synapses.

The human brain is a complex integrated spatiotemporal system, where space (which neuron fires) and time (when a neuron fires) both carry information to be processed by cognitive functions. To parallel the energy efficiency and computing functionality of the brain, methodologies operating over both the space and time domains are thus essential. Implementing spatiotemporal functions within nanoscale devices capable of synaptic plasticity would contribute a significant step toward constructing a large-scale neuromorphic system that emulates the computing and energy performances of the human brain.

Nutrition and Lung Growth.

Experimental evidence from animal models and epidemiology studies has demonstrated that nutrition affects lung development and may have a lifelong impact on respiratory health. Chronic restriction of nutrients and/or oxygen during pregnancy causes structural changes in the airways and parenchyma that may result in abnormal lung function, which is tracked throughout life. Inadequate nutritional management in very premature infants hampers lung growth and may be a contributing factor in the pathogenesis of bronchopulmonary dysplasia.

Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature.

The phenotypic manifestations of microdeletions in the 19q13.32 region are still poorly known. In this paper we report a patient who presented with hypotonia, developmental delay, facial dysmorphism, micrognathia, kyphoscoliosis, and buried penis.

Origins of 1/f2 scaling in the power spectrum of intracortical local field potential.

It has been noted that the power spectrum of intracortical local field potential (LFP) often scales as 1/f(-2). It is thought that LFP mostly represents the spiking-related neuronal activity such as synaptic currents and spikes in the vicinity of the recording electrode, but no 1/f(2) scaling is detected in the spike power. Although tissue filtering or modulation of spiking activity by UP and DOWN states could account for the observed LFP scaling, there is no consensus as to how it arises.

Silicon nanocrystal memories: a status update.

In the last decade, the silicon nanocrystal memory technology has received widespread interests from the scientific community working in the field of non-volatile solid-state memories, considering it as a feasible candidate for the post-Flash scenario. The immunity to stress-induced leakage current and the reduction of parasitic floating-gate capacitive couplings make the nanocrystal technology very attractive, especially when considering the CMOS compatible process flow. However, many open issues still exist for its development, first of all concerning its scaling perspectives.