Smart textiles consist of discrete devices fabricated from-or incorporated onto-fibres. Despite the tremendous progress in smart textiles for lighting/display applications, a large scale approach for ...a smart display system with integrated multifunctional devices in traditional textile platforms has yet to be demonstrated. Here we report the realisation of a fully operational 46-inch smart textile lighting/display system consisting of RGB fibrous LEDs coupled with multifunctional fibre devices that are capable of wireless power transmission, touch sensing, photodetection, environmental/biosignal monitoring, and energy storage. The smart textile display system exhibits full freedom of form factors, including flexibility, bendability, and rollability as a vivid RGB lighting/grey-level-controlled full colour display apparatus with embedded fibre devices that are configured to provide external stimuli detection. Our systematic design and integration strategies are transformational and provide the foundation for realising highly functional smart lighting/display textiles over large area for revolutionary applications on smart homes and internet of things (IoT).
An integrated textile electronic system is reported here, enabling a truly free form factor system via textile manufacturing integration of fiber-based electronic components. Intelligent and smart ...systems require freedom of form factor, unrestricted design, and unlimited scale. Initial attempts to develop conductive fibers and textile electronics failed to achieve reliable integration and performance required for industrial-scale manufacturing of technical textiles by standard weaving technologies. Here, we present a textile electronic system with functional one-dimensional devices, including fiber photodetectors (as an input device), fiber supercapacitors (as an energy storage device), fiber field-effect transistors (as an electronic driving device), and fiber quantum dot light-emitting diodes (as an output device). As a proof of concept applicable to smart homes, a textile electronic system composed of multiple functional fiber components is demonstrated, enabling luminance modulation and letter indication depending on sunlight intensity.
Methanol crossover through a polymer electrolyte membrane has numerous negative effects on direct methanol fuel cells (DMFCs) because it decreases the cell voltage due to a mixed potential ...(occurrence of both oxygen reduction and methanol oxidation reactions) at the cathode, lowers the overall fuel utilization and contributes to long-term membrane degradation. In this work, an investigation of methanol transport properties of composite membranes based on sulfonated polysulfone (sPSf) and modified silica filler is carried out using the PFG-NMR technique, mainly focusing on high methanol concentration (i.e., 5 M). The influence of methanol crossover on the performance of DMFCs equipped with low-cost sPSf-based membranes operating with 5 M methanol solution at the anode is studied, with particular emphasis on the composite membrane approach. Using a surface-modified-silica filler into composite membranes based on sPSf allows reducing methanol cross-over of 50% compared with the pristine membrane, making it a good candidate to be used as polymer electrolyte for high energy DMFCs.
PHF21A Related Disorder: Description of a New Case Butera, Ambra; Nicotera, Antonio Gennaro; Di Rosa, Gabriella ...
International journal of molecular sciences,
12/2022, Volume:
23, Issue:
24
Journal Article
Peer reviewed
Open access
(
) gene, located in the short arm of chromosome 11, encodes for BHC80, a component of the Lysine Specific Demethylase 1, Corepressor of REST (LSD1-CoREST) complex. BHC80 is mainly expressed in the ...human fetal brain and skeletal muscle and acts as a modulator of several neuronal genes during embryogenesis. Data from literature relates
variants with Potocki-Shaffer Syndrome (PSS), a contiguous gene deletion disorder caused by the haploinsufficiency of
,
, and
genes. Clinical cardinal features of PSS syndrome are multiple exostoses (due to the
involvement), biparietal foramina (due to the
involvement), intellectual disability, and craniofacial anomalies (due to the
involvement). To date, to the best of our knowledge, a detailed description of
-related disorder clinical phenotype is not described in the literature; in fact, only 14 subjects with microdeletion frameshift or nonsense variants concerning only
gene have been reported. All reported cases did not present
or
variants, and their clinical features did not fit with PSS diagnosis. Herein, by using Exome sequencing, and Sanger sequencing of the region of interest, we describe a case of a child with a paternally inherited (mosaicism of 5%) truncating variant of the
gene (c.649_650del; p.Gln217ValfsTer6), and discuss the new evidence. In conclusion, these patients showed varied clinical expressions, mainly including the presence of intellectual disability, epilepsy, hypotonia, and dysmorphic features. Our study contributes to describing the genotype-phenotype spectrum of patients with PHF21A-related disorder; however, the limited data in the literature have been unable to provide a precise diagnostic protocol for patients with
-related disorder.
Hypoxic-ischemic brain damage presents a significant neurological challenge, often manifesting during the perinatal period. Specifically, periventricular leukomalacia (PVL) is emerging as a notable ...contributor to cerebral palsy and intellectual disabilities. It compromises cerebral microcirculation, resulting in insufficient oxygen or blood flow to the periventricular region of the brain. As widely documented, these pathological conditions can be caused by several factors encompassing preterm birth (4–5% of the total cases), as well single cotwin abortion and genetic variants such as those associated with GTPase pathways. Whole exome sequencing (WES) analysis identified a de novo causative variant within the pleckstrin homology domain-containing family G member 1 (PLEKHG1) gene in a patient presenting with PVL. The PLEKHG1 gene is ubiquitously expressed, showing high expression patterns in brain tissues. PLEKHG1 is part of a family of Rho guanine nucleotide exchange factors, and the protein is essential for cell division control protein 42 (CDC42) activation in the GTPase pathway. CDC42 is a key small GTPase of the Rho-subfamily, regulating various cellular functions such as cell morphology, migration, endocytosis, and cell cycle progression. The molecular mechanism involving PLEKHG1 and CDC42 has an intriguing role in the reorientation of cells in the vascular endothelium, thus suggesting that disruption responses to mechanical stress in endothelial cells may be involved in the formation of white matter lesions. Significantly, CDC42 association with white matter abnormalities is underscored by its MIM phenotype number. In contrast, although PLEKHG1 has been recently associated with patients showing white matter hyperintensities, it currently lacks a MIM phenotype number. Additionally, in silico analyses classified the identified variant as pathogenic. Although the patient was born prematurely and subsequently to dichorionic gestation, during which its cotwin died, we suggest that the variant described can strongly contribute to PVL. The aim of the current study is to establish a plausible association between the PLEKHG1 gene and PVL.
Sleep is disturbed in Rett syndrome (RTT), a rare and progressive neurodevelopmental disorder primarily affecting female patients (prevalence 7.1/100,000 female patients) linked to pathogenic ...variations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene. Autonomic nervous system dysfunction with a predominance of the sympathetic nervous system (SNS) over the parasympathetic nervous system (PSNS) is reported in RTT, along with exercise fatigue and increased sudden death risk. The aim of the present study was to test the feasibility of a continuous 24 h non-invasive home monitoring of the biological vitals (biovitals) by an innovative wearable sensor device in pediatric and adolescent/adult RTT patients.BackgroundSleep is disturbed in Rett syndrome (RTT), a rare and progressive neurodevelopmental disorder primarily affecting female patients (prevalence 7.1/100,000 female patients) linked to pathogenic variations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene. Autonomic nervous system dysfunction with a predominance of the sympathetic nervous system (SNS) over the parasympathetic nervous system (PSNS) is reported in RTT, along with exercise fatigue and increased sudden death risk. The aim of the present study was to test the feasibility of a continuous 24 h non-invasive home monitoring of the biological vitals (biovitals) by an innovative wearable sensor device in pediatric and adolescent/adult RTT patients.A total of 10 female patients (mean age 18.3 ± 9.4 years, range 4.7-35.5 years) with typical RTT and MECP2 pathogenic variations were enrolled. Clinical severity was assessed by validated scales. Heart rate (HR), respiratory rate (RR), and skin temperature (SkT) were monitored by the YouCare Wearable Medical Device (Accyourate Group SpA, L'Aquila, Italy). The average percentage of maximum HR (HRmax%) was calculated. Heart rate variability (HRV) was expressed by consolidated time-domain and frequency-domain parameters. The HR/LF (low frequency) ratio, indicating SNS activation under dynamic exercise, was calculated. Simultaneous continuous measurement of indoor air quality variables was performed and the patients' contributions to the surrounding water vapor partial pressure PH2O (pt) and carbon dioxide PCO2 (pt) were indirectly estimated.MethodsA total of 10 female patients (mean age 18.3 ± 9.4 years, range 4.7-35.5 years) with typical RTT and MECP2 pathogenic variations were enrolled. Clinical severity was assessed by validated scales. Heart rate (HR), respiratory rate (RR), and skin temperature (SkT) were monitored by the YouCare Wearable Medical Device (Accyourate Group SpA, L'Aquila, Italy). The average percentage of maximum HR (HRmax%) was calculated. Heart rate variability (HRV) was expressed by consolidated time-domain and frequency-domain parameters. The HR/LF (low frequency) ratio, indicating SNS activation under dynamic exercise, was calculated. Simultaneous continuous measurement of indoor air quality variables was performed and the patients' contributions to the surrounding water vapor partial pressure PH2O (pt) and carbon dioxide PCO2 (pt) were indirectly estimated.Of the 6,559.79 h of biovital recordings, 5051.03 h (77%) were valid for data interpretation. Sleep and wake hours were 9.0 ± 1.1 h and 14.9 ± 1.1 h, respectively. HRmax % median: 71.86% (interquartile range 61.03-82%) and HR/LF median: 3.75 (interquartile range 3.19-5.05) were elevated, independent from the wake-sleep cycle. The majority of HRV time- and frequency-domain parameters were significantly higher in the pediatric patients (p ≤ 0.031). The HRV HR/LF ratio was associated with phenotype severity, disease progression, clinical sleep disorder, subclinical hypoxia, and electroencephalographic observations of multifocal epileptic activity and general background slowing.ResultsOf the 6,559.79 h of biovital recordings, 5051.03 h (77%) were valid for data interpretation. Sleep and wake hours were 9.0 ± 1.1 h and 14.9 ± 1.1 h, respectively. HRmax % median: 71.86% (interquartile range 61.03-82%) and HR/LF median: 3.75 (interquartile range 3.19-5.05) were elevated, independent from the wake-sleep cycle. The majority of HRV time- and frequency-domain parameters were significantly higher in the pediatric patients (p ≤ 0.031). The HRV HR/LF ratio was associated with phenotype severity, disease progression, clinical sleep disorder, subclinical hypoxia, and electroencephalographic observations of multifocal epileptic activity and general background slowing.Our findings indicate the feasibility of a continuous 24-h non-invasive home monitoring of biovital parameters in RTT. Moreover, for the first time, HRmax% and the HR/LF ratio were identified as potential objective markers of fatigue, illness severity, and disease progression.ConclusionOur findings indicate the feasibility of a continuous 24-h non-invasive home monitoring of biovital parameters in RTT. Moreover, for the first time, HRmax% and the HR/LF ratio were identified as potential objective markers of fatigue, illness severity, and disease progression.
Background:
Hemorrhoidal artery ligation (HAL) may reduce postoperative pain and complications and shorten patients’ recovery when compared to standard hemorrhoidectomy. It is unclear if the Doppler ...guide (DG) is useful in reducing recurrence risk.
Objective:
To compare two groups of patients (treated with DG-HAL or HAL) in terms of recurrence risk and patients’ satisfaction grade.
Methods:
Between January 1, 2014 and January 31, 2021, 122 patients affected by grade II-III hemorrhoidal prolapse underwent DG-HAL or HAL at Chivasso Hospital, Italy. Mucopexy was routinely performed. After discharge, patients were subjected to 1-week, 1-, 3-, 6-, and 12-month clinical assessment. Thereafter, they were interviewed by telephone annually.
Results:
Seventy-six (62.3%) DG-HAL and 46 (37.7%) HAL procedures were performed. Median surgical time was 30 (15–45) minutes for DG-HAL
versus
25 (15–40) minutes for HAL (
P
= 0.005). No intraoperative complications occurred. Postoperative bleeding needing surgery occurred in 2 (1.6%) patients in the DG-HAL group. During a median follow-up of 46 months (6–86), we registered 18 (23.7%) recurrences in the DG-HAL group and 13 (28.3%) in the HAL one (
P
= 0.574). No cases of incontinence or anal stenosis occurred. No significant difference was observed between the two groups in terms of patients’ satisfaction. At multivariate analysis, age ≥ 65 years resulted a protective factor for recurrence (odds ratio 0.31; 95% confidence interval 0.09–0.98;
P
= 0.047).
Conclusions:
In our study, the use of DG did not reduce recurrence risk. Operative time was significantly increased in the DG-HAL group.
Autism spectrum disorder (ASD) is a long-known complex neurodevelopmental disorder, and over the past decades, with the enhancement of the research genomic techniques, has been the object of ...intensive research activity, and many genes involved in the development and functioning of the central nervous system have been related to ASD genesis. Herein, we report a patient with severe ASD carrying a G > A de novo variant in the
FGFR2
gene, determining a missense mutation.
FGFR2
encodes for the ubiquitous fibroblast growth factor receptor (FGFR) type 2, a tyrosine kinase receptor implicated in several biological processes. The mutated version of this protein is known to be responsible for several variable overlapping syndromes. Even if there still is only sparse and anecdotal data, recent research highlighted a potential role of
FGFR2
on neurodevelopment. Our findings provide new insights into the potential causative role of
FGFR2
gene in complex neurodevelopmental disorders.
Recessive mutations in the POLR3A gene cause POLR3-HLD (the second-most-common form of childhood-onset hypomyelinating leukodystrophy), a neurodegenerative disorder featuring deficient cerebral ...myelin formation. To date, more than 140 POLR3A (NM_007055.3) missense mutations are related to the pathogenesis of POLR3-related leukodystrophy and spastic ataxia. Herein, in a cohort of five families from Sicily (Italy), we detected two cases of patients affected by POLR3-related leukodystrophy, one due to a compound heterozygous mutation in the POLR3A gene, including a previously undescribed missense mutation (c.328A > G (p.Lys110Glu)). Our study used an in-house NGS gene panel comprising 41 known leukodystrophy genes. Successively, we used a predictive test supporting the missense mutation as causative of disease, thus this mutation can be considered “Likely Pathogenic” and could be as a new pathogenetic mutation of the POLR3A gene causing a severe form of POLR3-HLD.
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