PRICKLE1-related early onset epileptic encephalopathy

The PRICKLE1 (Prickle Planar Cell Polarity Protein 1-MIM 608500) gene is involved in different phases of human development. The related diseases include autosomal recessive progressive myoclonus epilepsy - ataxia syndrome, neural tube defects associated with heterozygous mutations, agenesis of corpus callosum, polymicrogyria, and autistic spectrum disorder. Reported here is a young boy with a new variant (NM_153026.2:c.820G>A, p.Ala274Thr) presenting with an early infantile epileptic encephalopathy with developmental arrest

Error-Free 10.7 Gb/s Digital Transmission over 2 km Optical Link Using an Ultra-Low-Voltage Electro-Optic Modulator

We demonstrate the feasibility of 10.7 Gb/s error-free (BER < 10-12) optical transmission on distances up to 2 km using a recently developed ultra-low-voltage commercial Electro-Optic Modulator (EOM) that is driven by 0.6 Vpp and with an optical input power of 1 mW. Given this low voltage operation, the modulator could be driven directly from the detectors’ board signals without the need of any further amplification reducing significantly the power dissipation and the material budget

Medial Cuneiform Opening Wedge Osteotomy for Correction of Flexible Flatfoot Deformity: Trabecular Titanium vs. Bone Allograft Wedges

Adult flatfoot is a common pathology characterized by multiplanar deformity involving hindfoot, midfoot, and forefoot. Various surgical techniques have been described for the treatment but may not adequately correct the fixed forefoot varus component. Residual forefoot supination can be addressed by a plantar flexing opening wedge osteotomy of the medial cuneiform, also known as a Cotton osteotomy. Thus, the aims of this study were to compare clinical, radiological, and functional outcome after Cotton osteotomy, in patients treated with bone allograft or metallic implant. Consequently, 36 patients treated with opening wedge osteotomy of the medial cuneiform for forefoot varus were studied retrospectively. Patients were divided into two groups: the bone allograft group (HBG) (n=18) and the metallic implant group with BIOFOAM (R) Cotton Wedges (TTW) (n=18). Radiographic assessment and clinical scores including American Orthopaedic Foot and Ankle Society score, Foot Function Index, and visual analogue scale for pain were collected before operation and the last follow-up. The difference between baseline and follow-up for both groups was statistically significant for all the clinical scores and radiographic angles (p < 0.05). Most participants (92%) were very satisfied after surgery. Our results showed that Cotton osteotomy with a metallic implant provided both good clinical and radiographic outcomes comparable with bone allograft

Potential Use of Near-Infrared Spectroscopy to Predict Fatty Acid Profile of Meat from Different European Autochthonous Pig Breeds

Autochthonous pig breeds provide products of differentiated quality, among which quality control is difficult to perform and insufficient for current market requirements. The present research evaluates the predictive ability of near‐infrared (NIR) spectroscopy, combined with chemometric methods as a rapid and affordable tool to assure traceability and quality control. Thus, NIR technology was assessed for intact and minced muscle Longissimus thoracis et lumborum samples collected from 12 European autochthonous pig breeds for the quantification of lipid content and fatty acid composition. Different tests were performed using different numbers of samples for calibration and validation. The best predictive ability was found using minced presentation and set with 80% of the samples for the calibration and the remaining 20% for the external validation test for the following traits: lipid content and saturated and polyunsaturated fatty acids, which attained both the highest determination coefficients (0.89, 0.61, and 0.65, respectively) and the lowest root mean square errors in external validation (0.62, 1.82, and 1.36, respectively). Lower predictive ability was observed for intact muscles. These results could contribute to improve the management of autochthonous breeds and to ensure quality of their products by traditional meat industry chains

Black pine (Pinus nigra) barks: A critical evaluation of some sampling and analysis parameters for mercury biomonitoring purposes

Abstract Tree barks are increasingly used as biomonitors of airborne pollutants. However, many authors stress the poor comparability of the results achieved in different studies. This drawback is mainly caused by a poor understanding of the critical sampling parameters to be considered. To minimize the biases that could be introduced during sampling, in this study the barks of Pinus nigra J.F. Arnold from thirteen sites were investigated in the abandoned Mt. Amiata mercury (Hg) mining district (Southern Tuscany, Italy) and surroundings. The influence of some sampling and analyzing parameters on Hg content was critically assessed. At each site, a total of eight bark samples were taken from a single tree at two heights (70 cm and 150 cm from soil) and at four different sides of the trunk, corresponding to the four cardinal directions; a composite soil sample was also collected. Mercury contents in barks range from 0.1 to 28.8 mg/kg, and are correlated with soil Hg contents (1–480 mg/kg), indicating that barks record both gaseous Hg concentrations in air, and wind-transported Hg-bearing particulate. For each tree, samples at 70 cm and 150 cm show Hg contents of the same order of magnitude, even if values for 150 cm are slightly less dispersed, possibly because barks at 70 cm are more influenced by random soil particles. There is no statistically significant dependence of Hg content on direction and tree age. Simulated rain events cause a negligible loss of Hg from barks. Results suggest that a convenient sampling practice for Pinus nigra is to collect a bark slice (typically 1–2 mm) within the outermost 1.5 cm layer

Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy

CHD2 encodes the chromodomain helicase DNA-binding protein 2, an ATP-dependent enzyme that acts as a chromatin remodeler. CHD2 pathogenic variants have been associated with various early onset phenotypes including developmental and epileptic encephalopathy, self-limiting or pharmacoresponsive epilepsies and neurodevelopmental disorders without epilepsy. We reviewed 84 previously reported patients carrying 76 different CHD2 pathogenic or likely pathogenic variants and describe 18 unreported patients carrying 12 novel pathogenic or likely pathogenic variants, two recurrent likely pathogenic variants (in two patients each), three previously reported pathogenic variants, one gross deletion. We also describe a novel phenotype of adult-onset pharmacoresistant epilepsy, associated with a novel CHD2 missense likely pathogenic variant, located in an interdomain region. A combined review of previously published and our own observations indicates that although most patients (72.5%) carry truncating CHD2 pathogenic variants, CHD2-related phenotypes encompass a wide spectrum of conditions with developmental delay/intellectual disability (ID), including prominent language impairment, attention deficit hyperactivity disorder and autistic spectrum disorder. Epilepsy is present in 92% of patients with a median age at seizure onset of 2 years and 6 months. Generalized epilepsy types are prevalent and account for 75.5% of all epilepsies, with photosensitivity being a common feature and adult-onset nonsyndromic epilepsy a rare presentation. No clear genotype-phenotype correlation has emerged

Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations

OBJECTIVE: To explore the prognostic value of initial clinical and mutational findings in infants with SCN1A mutations. METHODS: Combining sex, age/fever at first seizure, family history of epilepsy, EEG, and mutation type, we analyzed the accuracy of significant associations in predicting Dravet syndrome vs milder outcomes in 182 mutation carriers ascertained after seizure onset. To assess the diagnostic accuracy of all parameters, we calculated sensitivity, specificity, receiver operating characteristic (ROC) curves, diagnostic odds ratios, and positive and negative predictive values and the accuracy of combined information. We also included in the study demographic and mutational data of the healthy relatives of mutation carrier patients. RESULTS: Ninety-seven individuals (48.5%) had Dravet syndrome, 49 (23.8%) had generalized/genetic epilepsy with febrile seizures plus, 30 (14.8%) had febrile seizures, 6 (3.5%) had focal epilepsy, and 18 (8.9%) were healthy relatives. The association study indicated that age at first seizure and frameshift mutations were associated with Dravet syndrome. The risk of Dravet syndrome was 85% in the 0- to 6-month group, 51% in the 6- to 12-month range, and 0% after the 12th month. ROC analysis identified onset within the sixth month as the diagnostic cutoff for progression to Dravet syndrome (sensitivity = 83.3%, specificity = 76.6%). CONCLUSIONS: In individuals with SCN1A mutations, age at seizure onset appears to predict outcome better than mutation type. Because outcome is not predetermined by genetic factors only, early recognition and treatment that mitigates prolonged/repeated seizures in the first year of life might also limit the progression to epileptic encephalopathy

Prediction of fatty acid composition in intact and minced fat of European autochthonous pigs breeds by near infrared spectroscopy

The fatty acids profile has been playing a decisive role in recent years, thanks to technological, sensory and health demands from producers and consumers. The application of NIRS technique on fat tissues, could lead to more efficient, practical, and economical in the quality control. The study aim was to assess the accuracy of Fourier Transformed Near Infrared Spectroscopy technique to determine fatty acids composition in fat of 12 European local pig breeds. A total of 439 spectra of backfat were collected both in intact and minced tissue and then were analyzed using gas chromatographic analysis. Predictive equations were developed using the 80% of samples for the calibration, followed by full cross validation, and the remaining 20% for the external validation test. NIRS analysis of minced samples allowed a better response for fatty acid families, n6 PUFA, it is promising both for n3 PUFA quantification and for the screening (high, low value) of the major fatty acids. Intact fat prediction, although with a lower predictive ability, seems suitable for PUFA and n6 PUFA while for other families allows only a discrimination between high and low values.IRTA acknowledge the Consolidated Research Group (2021 SGR 00461) and CERCA Program to partially support this work