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Background: Diagnostic and prognostic decision-making in patients with Disorders of Consciousness (DoC) is challenging. It has been suggested that spontaneous eye blink rate is an index of patients' level of consciousness easy to detect in clinical practice. Further blinking features (i.e., amplitude, duration, variability in intervals between blinks) may change as a function of cognitive load, but have not been investigated in patients with DoC., Objective: This multicentre, longitudinal study aims at exploring the diagnostic and prognostic value of spontaneous eye blinking features in DoC., Methods: Eight European medical institutions will enrol consecutively admitted adult patients with DoC. Within two weeks from study entry demographic, anamnestic and clinical data will be collected. Moreover, patients will undergo two 20-minute EEG-EOG recordings at rest, to collect blinking features and EEG activity. A clinical follow-up will be performed after 6 months. A group of healthy individuals will be enrolled for reference., Results: Possible differences in blink features between patients and the reference group, differences across diagnostic sub-groups, and correlations between blinking features and clinical outcome will be investigated., Conclusion: The results of this study might help clinicians to reduce misdiagnosis rate in DoC and provide useful information for prognostication and care pathway plan.

Purpose: This study aimed to assess the real-world management of achondroplasia in Italy., Methods: Two online surveys addressed to (1) parents/caregivers of individuals with achondroplasia and (2) Italian clinicians managing individuals with achondroplasia were conducted to assess real-world perspectives on achondroplasia management. Both surveys collected data on either patient or clinician demographics, details on diagnoses and referrals, disease complications, and views/experiences with limb lengthening surgery., Results: In total, 42 parents/caregivers and 19 clinicians (from 18 hospitals) completed the surveys. According to parents/caregivers, achondroplasia diagnosis was most commonly made in the third trimester of gestation (55% of respondents), with a genetic test performed to confirm the diagnosis in all but one case. In contrast, the clinicians indicated that, while achondroplasia was typically suspected during the prenatal period (78%), diagnosis was more frequently confirmed postnatally (72%). Parents/caregivers reported that the greatest impact of achondroplasia-related complications occurred in their children between the ages of 2-5 years. The most significant complications were otitis, sleep apnoea, stenosis of the foramen magnum or pressure on the spinal cord, and hearing difficulties. Lengthening surgery had been presented as a treatment option to 92% of responding parents/caregivers, with 76% of clinicians viewing surgery favourably. Typically, clinicians' reasons for suggesting limb lengthening surgery were to improve patient quality of life, increase patient autonomy and self-acceptance, improve trunk-limb disproportion, short stature and walking, and ensure that all possible treatment options had been presented to the parents/caregivers., Conclusion: This survey provides insight into the real-world management of individuals with achondroplasia in Italy., (© 2023. The Author(s), under exclusive licence to Italian Society of Endocrinology (SIE).)

Short-rib thoracic dysplasia 3 with or without polydactyly (OMIM # 613091) represents a clinical spectrum encompassing a heterogeneous group of skeletal dysplasias associated with homozygous or compound heterozygous mutations of DYNC2H1. We describe the case of a couple with two consecutive therapeutic abortions due to a diagnosis of short-rib thoracic dysplasia mutations. In the first pregnancy, the diagnosis has been made at 21 weeks. In the second one, an accurate and early ultrasound examination allowed a diagnosis at 12 weeks. DYNC2H1 mutations were confirmed in both cases. In this report, we underline the importance of an ultrasound evaluation at the end of the first trimester of pregnancy in the detection of early signs of skeletal dysplasias. An early prenatal diagnosis of a short-rib skeletal dysplasia, such as for other severe skeletal dysplasias, is critical to offer a couple the chance of a weighted, informed, and less traumatic decision about the continuation of the pregnancy.

Microcephalic Osteodysplastic Primordial Dwarfism type II (MOPDII) represents the most common form of primordial dwarfism. MOPD clinical features include severe prenatal and postnatal growth retardation, postnatal severe microcephaly, hypotonia, and an increased risk for cerebrovascular disease and insulin resistance. Autosomal recessive biallelic loss-of-function genomic variants in the centrosomal pericentrin (PCNT) gene on chromosome 21q22 cause MOPDII. Over the past decade, exome sequencing (ES) and massive RNA sequencing have been effectively employed for both the discovery of novel disease genes and to expand the genotypes of well-known diseases. In this paper we report the results both the RNA sequencing and ES of three patients affected by MOPDII with the aim of exploring whether differentially expressed genes and previously uncharacterized gene variants, in addition to PCNT pathogenic variants, could be associated with the complex phenotype of this disease. We discovered a downregulation of key factors involved in growth, such as IGF1R, IGF2R, and RAF1, in all three investigated patients. Moreover, ES identified a shortlist of genes associated with deleterious, rare variants in MOPDII patients. Our results suggest that Next Generation Sequencing (NGS) technologies can be successfully applied for the molecular characterization of the complex genotypic background of MOPDII., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Background: Achondroplasia is a rare genetic disorder caused by a mutation in the FGFR3 gene, leading to skeletal changes and other systemic complications that greatly impact the patient's quality of life. There currently are differences in achondroplasia patients' management among countries and centers within the same country., Method: A group of Italian experts discussed the best practice and the current unmet needs in the management of patients with achondroplasia though a two-round Delphi panel, between September and November 2022. The Delphi survey consisted of 32 questions covering organizational aspects, diagnosis and follow-up, and management of achondroplasia patient, and was shared among 54 experts from 25 different centers in Italy. The consensus was determined on the basis of the percentage of agreement or disagreement to each statement on a 5-point Likert scale., Results: Pediatricians (including specialists in pediatrics, medical genetics, and pediatric endocrinology) orthopedics and medical geneticists were the most represented specialists accounting for 64%, 9% and 9% of participants, respectively. The panel highlighted the need for standardized procedures to identify reference centers, the crucial role of multidisciplinary team, and effective communication among centers (Hub and Spoke model) as the essential organizational features; the importance of genetic counseling, presence of a psychologist, and clear communication during prenatal diagnosis as main points for diagnosis; early intervention by different specialists, personalized care, and promotion of a healthy lifestyle as major points for patient management., Conclusion: To ensure an adequate continuity of care over the whole lifespan of a patient with achondroplasia a shared model for patient management is suggested by Italian specialists., Competing Interests: GC and DL were employed by PharmaLex. The remaining authors declare that research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2023 Maghnie, Bruzzi, Casilli, Lidonnici and Scarano.)

CRC is an adult-onset carcinoma representing the third most common cancer and the second leading cause of cancer-related deaths in the world. EO-CRC (<45 years of age) accounts for 5% of the CRC cases and is associated with cancer-predisposing genetic factors in half of them. Here, we describe the case of a woman affected by BWSp who developed EO-CRC at age 27. To look for a possible molecular link between BWSp and EO-CRC, we analysed her whole-genome genetic and epigenetic profiles in blood, and peri-neoplastic and neoplastic colon tissues. The results revealed a general instability of the tumor genome, including copy number and methylation changes affecting genes of the WNT signaling pathway, CRC biomarkers and imprinted loci. At the germline level, two missense mutations predicted to be likely pathogenic were found in compound heterozygosity affecting the Cystic Fibrosis (CF) gene CFTR that has been recently classified as a tumor suppressor gene, whose dysregulation represents a severe risk factor for developing CRC. We also detected constitutional loss of methylation of the KCNQ1OT1 :TSS-DMR that leads to bi-allelic expression of the lncRNA KCNQ1OT1 and BWSp. Our results support the hypothesis that the inherited CFTR mutations, together with constitutional loss of methylation of the KCNQ1OT1 :TSS-DMR, initiate the tumorigenesis process. Further somatic genetic and epigenetic changes enhancing the activation of the WNT/beta-catenin pathway likely contributed to increase the growth advantage of cancer cells. Although this study does not provide any conclusive cause-effect relationship between BWSp and CRC, it is tempting to speculate that the imprinting defect of BWSp might accelerate tumorigenesis in adult cancer in the presence of predisposing genetic variants.

Comprehensive understanding of the human protein-protein interaction (PPI) network, aka the human interactome, can provide important insights into the molecular mechanisms of complex biological processes and diseases. Despite the remarkable experimental efforts undertaken to date to determine the structure of the human interactome, many PPIs remain unmapped. Computational approaches, especially network-based methods, can facilitate the identification of previously uncharacterized PPIs. Many such methods have been proposed. Yet, a systematic evaluation of existing network-based methods in predicting PPIs is still lacking. Here, we report community efforts initiated by the International Network Medicine Consortium to benchmark the ability of 26 representative network-based methods to predict PPIs across six different interactomes of four different organisms: A. thaliana, C. elegans, S. cerevisiae, and H. sapiens. Through extensive computational and experimental validations, we found that advanced similarity-based methods, which leverage the underlying network characteristics of PPIs, show superior performance over other general link prediction methods in the interactomes we considered., (© 2023. The Author(s).)

A comprehensive representation of the road pavement state of health is of great interest. In recent years, automated data collection and processing technology has been used for pavement inspection. In this paper, a new signal on graph (SoG) model of road pavement distresses is presented with the aim of improving automatic pavement distress detection systems. A novel nonlinear Bayesian estimator in recovering distress metrics is also derived. The performance of the methodology was evaluated on a large dataset of pavement distress values collected in field tests conducted in Kazakhstan. The application of the proposed methodology is effective in recovering acquisition errors, improving road failure detection. Moreover, the output of the Bayesian estimator can be used to identify sections where the measurement acquired by the 3D laser technology is unreliable. Therefore, the presented model could be used to schedule road section maintenance in a better way.

Background: The aims of this study were: to investigate the capacity of the rare disease healthcare network in Campania to diagnose patients with rare diseases during the outbreak of Covid-19; and to shed light on problematic diagnoses during this period., Methods: To describe the impact of the Covid-19 pandemic on the diagnosis of patients with rare diseases, a retrospective analysis of the Campania Region Rare Disease Registry was performed. A tailored questionnaire was sent to rare disease experts to investigate major issues during the emergency period., Results: Prevalence of new diagnoses of rare disease in March and April 2020 was significantly lower than in 2019 (117 versus 317, P < 0.001 and 37 versus 349, P < 0.001, respectively) and 2018 (117 versus 389, P < 0.001 and 37 versus 282, P < 0.001, respectively). Eighty-two among 98 rare disease experts completed the questionnaire. Diagnostic success (95%), access to diagnosis (80%) and follow-up (72%), lack of Personal Protective Equipment (60%), lack of Covid-19 guidelines (50%) and the need for home therapy (78%) were the most important issues raised during Covid-19 outbreak., Conclusions: This study describes the effects of the Covid-19 outbreak on the diagnosis of rare disease in a single Italian region and investigates potential issues of diagnosis and management during this period., (© The Author(s) 2021. Published by Oxford University Press on behalf of Faculty of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

The inherited connective tissue disorders (Marfan syndrome, Loeys-Dietz syndrome [LDS], and Ehlers-Danlos syndrome [EDS]) involve connective tissue of various organ systems. These pathologies share many common features, nonetheless compared to Marfan syndrome, LDS' cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis. The EDS are currently classified into thirteen subtypes. There is substantial symptoms overlap between the EDS subtypes, and they are associated with an increased incidence of cardiovascular abnormalities, such as mitral valve prolapse and aortic dissection., Competing Interests: Disclosure The authors have nothing to disclose., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Mitochondrial diseases (MD) include an heterogenous group of systemic disorders caused by sporadic or inherited mutations in nuclear or mitochondrial DNA (mtDNA), causing impairment of oxidative phosphorylation system. Hypertrophic cardiomyopathy is the dominant pattern of cardiomyopathy in all forms of mtDNA disease, being observed in almost 40% of the patients. Dilated cardiomyopathy, left ventricular noncompaction, and conduction system disturbances have been also reported. In this article, the authors discuss the current clinical knowledge on MD, focusing on diagnosis and management of mitochondrial diseases caused by mtDNA mutations., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability. The syndrome is caused by KMT2D gene mutations or less frequently KDM6A gene mutations or deletions. We report a systematic evaluation of KS patients from Campania region of Italy; data were also compared with literature ones. We collected data of 15 subjects (8 males and 7 females with age range 10-26 years; mean age 16.9 years) with confirmed diagnosis of KS, representing the entire cohort of patients from Campania Region. Each patient performed biochemical testing and instrumental investigation. Neuro-intellectual development, cranio-facial dysmorphisms, and multisystem involvement data were collected retrospectively. For each category, type of defects and frequency of the anomalies were analyzed. Our observation shows that KS patients from Campania region have some particular and previously underscored, neurological and immunological findings. We found high prevalence of EEG's abnormalities (43%) and MRI brain abnormalities (60%). Microcephaly resulted more common in our series (33%), if compared with major cohorts described in literature. Biochemical features of immunodeficiency and autoimmune diseases including thyroid autoimmunity, polyserositis, and vitiligo were observed with high prevalence (54.5%). Low immunoglobulins levels were a frequent finding. Lymphocyte class investigation showed significantly reduced CD8 levels in one patient.Conclusions: These data confirm great heterogeneity of clinical manifestations in KS and suggest to introduce further clinical diagnostic criteria in order to perform a correct and precocious diagnosis. What is Known • Kabuki syndrome is characterized by growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability • Immune dysfunction is a common finding but autoimmune diseases are rarely seen • Neurological features are common What is New • Some particular facial features could help gestalt diagnosis (hypertelorism, broad nasal bridge, micrognathia, tooth agenesis, cutaneous haemangiomas and strabismus) • Higher prevalence of autoimmune disorders than previously reported • Particular neurological features are present in this cohort (EEG and MRI brain abnormalities)., (© 2021. The Author(s).)

Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by a homozygous GAA triplet repeat expansion in the frataxin gene. Cardiac involvement, usually manifesting as hypertrophic cardiomyopathy, can range from asymptomatic cases to severe cardiomyopathy with progressive deterioration of the left ventricular ejection fraction and chronic heart failure. The management of cardiac involvement is directed to prevent disease progression and cardiovascular complications. However, direct-disease therapies are not currently available for FRDA. The present review aims to describe the current state of knowledge regarding cardiovascular involvement of FRDA, focusing on clinical-instrumental features and management of cardiac manifestation., (Copyright © 2021 Elsevier Inc. All rights reserved.)

In the last decade, functional connectivity (FC) has been increasingly adopted based on its ability to capture statistical dependencies between multivariate brain signals. However, the role of FC in the context of brain-computer interface applications is still poorly understood. To address this gap in knowledge, we considered a group of 20 healthy subjects during an EEG-based hand motor imagery (MI) task. We studied two well-established FC estimators, i.e. spectral- and imaginary-coherence, and we investigated how they were modulated by the MI task. We characterized the resulting FC networks by extracting the strength of connectivity of each EEG sensor and we compared the discriminant power with respect to standard power spectrum features. At the group level, results showed that while spectral-coherence based network features were increasing in the sensorimotor areas, those based on imaginary-coherence were significantly decreasing. We demonstrated that this opposite, but complementary, behavior was respectively determined by the increase in amplitude and phase synchronization between the brain signals. At the individual level, we eventually assessed the potential of these network connectivity features in a simple off-line classification scenario. Taken together, our results provide fresh insights into the oscillatory mechanisms subserving brain network changes during MI and offer new perspectives to improve BCI performance.

Introduction: For several years now, medicine has been benefiting from the contribution of nanoparticles (NPs) technology for both diagnosis and therapy. They can be used as adjuvants, being capable per se of immune-modulating activity, or as carriers for molecules to be transported to a specific target, eventually loaded with specific ligands favoring specific uptake., Areas Covered: The review focuses on experimental use of NPs as adjuvants/carriers for allergen immunotherapy (AIT). Human clinical trials conducted so far are discussed., Expert Opinion: Results of experimental studies and recent clinical trials support the use of NPs as carrier/adjuvant in AIT. Comparisons between NP-based and classical AIT are needed, to show the usefulness of the NP-based approach. However, there are still unsolved problems: the persistence of non-degradable NPs with possible toxicological consequences, and the formation of the protein corona around the NPs, which could alter their activity and fate. Virus-like particles seem the most promising NPs for allergy treatment, as for other vaccines. Over the next decade, NP-based AIT will be largely used to treat allergic disorders.

Underwater acoustic digital communications suffer from inter-symbol interference deriving from signal distortions caused by the channel propagation. Facing such kind of impairment becomes particularly challenging when dealing with shallow water scenarios characterized by short channel coherence time and large delay spread caused by time-varying multipath effects. Channel equalization operated on the received signal represents a crucial issue in order to mitigate the effect of inter-symbol interference and improve the link reliability. In this direction, this contribution presents a preliminary performance analysis of acoustic digital links adopting pulse position modulation in severe multipath scenarios. First, we show how the spectral redundancy offered by pulse position modulated signals can be fruitfully exploited when using fractional sampling at the receiver side, which is an interesting approach rarely addressed by the current literature. In this context, a novel blind equalization scheme is devised. Specifically, the equalizer is blindly designed according to a suitably modified Bussgang scheme in which the zero-memory nonlinearity is replaced by a M -memory nonlinearity, M being the pulse position modulation order. Numerical results not only confirm the feasibility of the technique described here, but also assess the quality of its performance. An extension to a very interesting complex case is also provided.

Two distinct genomic disorders have been linked to Xq28-gains, namely Xq28-duplications including MECP2 and Int22h1/Int22h2-mediated duplications involving RAB39B. Here, we describe six unrelated patients, five males and one female, with Xq28-gains distal to MECP2 and proximal to the Int22h1/Int22h2 low copy repeats. Comparison with patients carrying overlapping duplications in the literature defined the MidXq28-duplication syndrome featuring intellectual disability, language impairment, structural brain malformations, microcephaly, seizures and minor craniofacial features. The duplications overlapped for 108 kb including FLNA, RPL10 and GDI1 genes, highly expressed in brain and candidates for the neurologic phenotype., (© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are 2 rare but clinically well-described diseases caused by de novo heterozygous sequence variants in the KAT6B gene. Both phenotypes are characterized by significant global developmental delay/intellectual disability, hypotonia, genital abnormalities, and patellar hypoplasia/agenesis. In addition, congenital heart defects, dental abnormalities, hearing loss, and thyroid anomalies are common to both phenotypes. This broad clinical overlap led some authors to propose the concept of KAT6B spectrum disorders. On the other hand, some clinical features could help to differentiate the 2 disorders. Furthermore, it is possible to establish a genotype-phenotype correlation when considering the position of the sequence variant along the gene, supporting the notion of the 2 disorders as really distinct entities., (© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

The Internet of Things (IoT) is by now very close to be realized, leading the world towards a new technological era where people's lives and habits will be definitively revolutionized. Furthermore, the incoming 5G technology promises significant enhancements concerning the Quality of Service (QoS) in mobile communications. Having billions of devices simultaneously connected has opened new challenges about network management and data exchange rules that need to be tailored to the characteristics of the considered scenario. A large part of the IoT market is pointing to Low-Power Wide-Area Networks (LPWANs) representing the infrastructure for several applications having energy saving as a mandatory goal besides other aspects of QoS. In this context, we propose a low-power IoT-oriented file synchronization protocol that, by dynamically optimizing the amount of data to be transferred, limits the device level of interaction within the network, therefore extending the battery life. This protocol can be adopted with different Layer 2 technologies and provides energy savings at the IoT device level that can be exploited by different applications.

Wolf-Hirschhorn syndrome is a well-defined disorder due to 4p16.3 deletion, characterized by distinct facial features, intellectual disability, prenatal and postnatal growth retardation, and seizures. Genotype-phenotype correlations based on differently sized deletions have been attempted, and some candidate genes have been suggested. We report on clinical characteristics of three patients with pure interstitial submicroscopic 4p16.3 deletions, ranging in size from 68 to 166 kb, involving WHSCR1 and/or part of WHSCR2, and review published cases with overlapping 4p16.3 losses. The present study highlights a major role of NSD2 gene in the pathogenesis of the WHS main features and predicts that loss-of-function mutations affecting NSD2 gene could result in microcephaly, prenatal and postnatal growth retardation, psychomotor and language delay, and craniofacial features. Absent seizures in all subjects corroborate the suggestion that this specific feature is causally linked with at least one additional causative gene. Finally, we suggest that mir-943 could play a role in the pathogenesis of CHD in some of these patients., (© 2018 Wiley Periodicals, Inc.)

Purpose: Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype-phenotype correlations of MWS., Methods: In a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations., Results: All anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluation of MWS to date, we define its clinical evolution occurring with age and derive suggestions for patient management. Furthermore, we observe that its severity correlates with the kind of ZEB2 variation involved, ranging from ZEB2 locus deletions, associated with severe phenotypes, to rare nonmissense intragenic mutations predicted to preserve some ZEB2 protein functionality, accompanying milder clinical presentations., Conclusion: Knowledge of the phenotypic spectrum of MWS and its correlation with the genotype will improve its detection rate and the prediction of its features, thus improving patient care.

In this paper, we address the problem of green Compressed Sensing (CS) reconstruction within Internet of Things (IoT) networks, both in terms of computing architecture and reconstruction algorithms. The approach is novel since, unlike most of the literature dealing with energy efficient gathering of the CS measurements, we focus on the energy efficiency of the signal reconstruction stage given the CS measurements. As a first novel contribution, we present an analysis of the energy consumption within the IoT network under two computing architectures. In the first one, reconstruction takes place within the IoT network and the reconstructed data are encoded and transmitted out of the IoT network; in the second one, all the CS measurements are forwarded to off-network devices for reconstruction and storage, i.e., reconstruction is off-loaded. Our analysis shows that the two architectures significantly differ in terms of consumed energy, and it outlines a theoretically motivated criterion to select a green CS reconstruction computing architecture. Specifically, we present a suitable decision function to determine which architecture outperforms the other in terms of energy efficiency. The presented decision function depends on a few IoT network features, such as the network size, the sink connectivity, and other systems' parameters. As a second novel contribution, we show how to overcome classical performance comparison of different CS reconstruction algorithms usually carried out w.r.t. the achieved accuracy. Specifically, we consider the consumed energy and analyze the energy vs. accuracy trade-off. The herein presented approach, jointly considering signal processing and IoT network issues, is a relevant contribution for designing green compressive sampling architectures in IoT networks.

In the emerging framework of visible light communications, the limitation of modulation bandwidth of light emitting diodes (LEDs) transmitters is counterbalanced by the use of red-green-blue (RGB) LEDs since they exhibit higher modulation bandwidth. Using RGB LEDs allows to exploit the spatial multiplexing aspects, that is obtaining parallel channels for transmission. In this context, we used at the receiver RGB-tuned photodiodes (PDs). Hence each PD can, in principle, detect only the information its tuning is matched to. The drawback of increasing spectral efficiency is the presence of cross-talk at the single PD due to the signals emitted by the remaining colors when a perfect color filtering is not applied. In this paper we consider amplitude shift keying (ASK) modulation, investigate the issue of the spatial (color) interference and we present a blind multichannel adaptive equalizer able to mitigate the temporary intersymbol interference (ISI) and also the spatial (color) ISI, this latter partially suppressed using suitable color filters. We analyze also the convergence of the adaptive algorithm and compare its performance with the literature.

In this work, we propose a novel visible light communication (VLC) scheme utilizing multiple different red green and blue triplets each with a different emission spectrum of red, green and blue for mitigating the effect of interference due to different colors using spatial multiplexing. On-off keying modulation is considered and its effect on light emission in terms of flickering, dimming and color rendering is discussed so as to demonstrate how metameric properties have been considered. At the receiver, multiple photodiodes with color filter-tuned on each transmit light emitting diode (LED) are employed. Three different detection mechanisms of color zero forcing, minimum mean square error estimation and minimum mean square error equalization are then proposed. The system performance of the proposed scheme is evaluated both with computer simulations and tests with an Arduino board implementation.

Whole exome sequencing (WES) has made the identification of causative SNVs/InDels associated with rare Mendelian conditions increasingly accessible. Incorporation of softwares allowing CNVs detection into the WES bioinformatics pipelines may increase the diagnostic yield. However, no standard protocols for this analysis are so far available and CNVs in non-coding regions are totally missed by WES, in spite of their possible role in the regulation of the flanking genes expression. So, in a number of cases the diagnostic workflow contemplates an initial investigation by genomic arrays followed, in the negative cases, by WES. The opposite workflow may also be applied, according to the familial segregation of the disease. We show preliminary results for a diagnostic application of a single next generation sequencing panel permitting the concurrent detection of LOH and variations in sequences and copy number. This approach allowed us to highlight compound heterozygosity for a CNV and a sequence variant in a number of cases, the duplication of a non-coding region responsible for sex reversal, and a whole-chromosome isodisomy causing reduction to homozygosity for a WFS1 variant. Moreover, the panel enabled us to detect deletions, duplications, and amplifications with sensitivity comparable to that of the most widely used array-CGH platforms., (© 2017 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)