SINDROMUL ANTIFOSFOLIPIDIC – CAUZĂ RARĂ DE STROKE LA COPIL

Sindromul antifosfolipidic (SAF) reprezintă o boală autoimună multisistemică caracterizată prin apariţia unor tromboze arteriale sau venoase la nivelul diverselor organe, datorate prezenţei anticorpilor antifosfolipidici. Autorii prezintă cazul unui copil în vârstă de 5 ani care a prezentat multiple episoade de stroke datorate unui sindrom antifosfolipidic primar

Artificial Neural Network Modeling of Glass Transition Temperatures for Some Homopolymers with Saturated Carbon Chain Backbone

The glass transition temperature (Tg) is an important decision parameter when synthesizing polymeric compounds or when selecting their applicability domain. In this work, the glass transition temperature of more than 100 homopolymers with saturated backbones was predicted using a neuro-evolutive technique combining Artificial Neural Networks with a modified Bacterial Foraging Optimization Algorithm. In most cases, the selected polymers have a vinyl-type backbone substituted with various groups. A few samples with an oxygen atom in a linear non-vinyl hydrocarbon main chain were also considered. Eight structural, thermophysical, and entanglement properties estimated by the quantitative structure–property relationship (QSPR) method, along with other molecular descriptors reflecting polymer composition, were considered as input data for Artificial Neural Networks. The Tg’s neural model has a 7.30% average absolute error for the training data and 12.89% for the testing one. From the sensitivity analysis, it was found that cohesive energy, from all independent parameters, has the highest influence on the modeled output

Analysis of Physicochemical Properties of W1.8507 Steel Parts with Sharp Edges, Thermochemically Treated by Plasma Nitriding with and without Polarized Screens

The plasma nitriding edge effect phenomenon is characteristic of parts with sharp edges. The intersection for the discharge of negative light of the two adjacent faces causes the apparition of this effect. In some cases, this effect causes disturbance to the general process. In this work, a sample with different angles of 30°, 60°, and 90° was analyzed. The sample was subjected to ion nitriding with and without the cathode grid to highlight the reduction of the edge effect on the non-uniformity appearing on the edges and corners of the parts. The effect of the active screen was also analyzed by hardness measurements in the area of the nitride edges and by SEM and EDX analyses in the mentioned areas. Additionally, the influence of active screens was studied by nanoindentation and scratch tests and by measuring the contact angle of coolants and liquid lubricants on the nitride surfaces with both methods

Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures

Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism that is characterized by gain-of-function mutations in the CASR gene, which provides instructions for producing the protein called calcium-sensing receptor (CaSR). Hypocalcemia in the neonatal period has a wide differential diagnosis. We present the case of a female newborn with genetic hypoparathyroidism (L125P mutation of CASR gene), hypocalcemia, and neonatal seizures due to the potential correlation between refractory neonatal seizures and ADH1. Neonatal seizures were previously described in patients with ADH1 but not in association with the L125P mutation of the CASR gene. Prompt diagnosis and management by a multidisciplinary and an appropriate therapeutic approach can prevent neurological and renal complications

The Importance of Implementing a Transition Strategy for Patients with Muscular Dystrophy: From Child to Adult—Insights from a Tertiary Centre for Rare Neurological Diseases

Progress in the field of muscular dystrophy (MD) using a multidisciplinary approach based on international standards of care has led to a significant increase in the life expectancy of patients. The challenge of transitioning from pediatric to adult healthcare has been acknowledged for over a decade, yet it continues to be a last-minute concern. Currently, there is no established consensus on how to evaluate the effectiveness of the transition process. Our study aimed to identify how well patients are prepared for the transition and to determine their needs. We conducted a descriptive, cross-sectional study on 15 patients aged 14 to 21 years. The patients completed a sociodemographic and a Transition Readiness Assessment Questionnaire (TRAQ). We also analyzed the comorbidities of these patients. Our study revealed that only 46.7% of the patients had engaged in a conversation with a medical professional, namely, a child neurologist, about transitioning. A total of 60% of the participants expressed having confidence in their self-care ability. However, the median TRAQ score of 3.6 shows that these patients overestimate themselves. We emphasize the necessity for a slow, personalized transition led by a multidisciplinary team to ensure the continuity of state-of-the-art care from pediatric to adult healthcare services and the achievement of the highest possible quality of life for these patients

Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries

Objective Genetic diagnosis and mutation identification are now compulsory for Duchenne (DMD) and Becker muscular dystrophies (BMD), which are due to dystrophin (DMD) gene mutations, either for disease prevention or personalized therapies. To evaluate the ethnic-related genetic assortments of DMD mutations, which may impact on DMD genetic diagnosis pipelines, we studied 328 patients with DMD and BMD from non-European countries. Methods We performed a full DMD mutation detection in 328 patients from 10 Eastern European countries (Poland, Hungary, Lithuania, Romania, Serbia, Croatia, Bosnia, Bulgaria, Ukraine,and Russia) and 2 non-European countries (Cyprus and Algeria). We used both conventional methods (multiplex ligation-dependent probe amplification [MLPA] followed by gene-specific sequencing) and whole-exome sequencing (WES) as a pivotal study ran in 28 patients where DMD mutations were already identified by standard techniques. WES output was also in-terrogated forDMDgene modifiers. Results We identified DMD gene mutations in 222 male patients. We identified a remarkable allele heterogeneity among different populations with a mutation landscape often country specific. We also showed that WES is effective for picking up all DMD deletions and small mutations and its adoption could allow a detection rate close to 90% of all occurring mutations. Gene modifiers haplotypes were identified with some ethnic-specific configurations. Conclusions Our data provide unreported mutation landscapes in different countries, suggesting that ethnicity may orient genetic diagnosis flowchart, which can be adjusted depending on the mutation type frequency, with impact in drug eligibility

Research and Science Today Supplement No. 1/2014

RESEARCH AND SCIENCE TODAY is a biannual science journal established in 2011. The journal is an informational platform that publishes assessment articles and the results of various scientific research carried out by academics. We provide the authors with the opportunity to create and/or perfect their science writing skills. Thus, each issue of the journal (two per year and at least two supplements) will contain professional articles from any academic field, authored by domestic and international academics. The goal of this journal is to pass on relevant information to undergraduate, graduate, and post-graduate students as well as to fellow academics and researchers; the topics covered are unlimited, considering its multi-disciplinary profile. Regarding the national and international visibility of Research and Science Today, it is indexed in over 30 international databases (IDB) and is present in over 200 online libraries and catalogues; therefore, anybody can easily consult the articles featured in each issue by accessing the databases or simply the website

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated families who present with atypical muscular dystrophy and neurological defects. Nine hypomorphic SNUPN biallelic variants, predominantly clustered in the last coding exon, are ascertained to segregate with the disease. We demonstrate that mutant SPN1 failed to oligomerize leading to cytoplasmic aggregation in patients' primary fibroblasts and CRISPR/Cas9-mediated mutant cell lines. Additionally, mutant nuclei exhibit defective spliceosomal maturation and breakdown of Cajal bodies. Transcriptome analyses reveal splicing and mRNA expression dysregulation, particularly in sarcolemmal components, causing disruption of cytoskeletal organization in mutant cells and patient muscle tissues. Our findings establish SNUPN deficiency as the genetic etiology of a previously unrecognized subtype of muscular dystrophy and provide robust evidence of the role of SPN1 for muscle homeostasis