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Background:Genome-wide screening of patients with mental retardation using array comparative genomic hybridisation (CGH) has identified several novel imbalances. With this genotype-first approach, the 2q22.3q23.3 deletion was recently described as a novel microdeletion syndrome. The authors report two unrelated patients with a de novo interstitial deletion mapping in this genomic region and presenting similar “pseudo-Angelman” phenotypes, including severe psychomotor retardation, speech impairment, epilepsy, microcephaly, ataxia, and behavioural disabilities.Methods:The microdeletions were identified by array CGH using oligonucleotide and bacterial artificial chromosome (BAC) arrays, and further confirmed by fluorescence in situ hybridisation (FISH) and semi-quantitative polymerase chain reaction (PCR).Results:The boundaries and sizes of the deletions in the two patients were different but an overlapping region of about 250 kb was defined, which mapped to 2q23.1 and included two genes: MBD5 and EPC2. The SIP1 gene associated with the Mowat–Wilson syndrome was not included in the deleted genomic region.Discussion:Haploinsufficiency of one of the deleted genes (MBD5 or EPC2) could be responsible for the common clinical features observed in the 2q23.1 microdeletion syndrome, and this hypothesis needs further investigation.

We determined bone marrow karyotype at diagnosis in four female acute myeloid leukemia (AML) or myelodysplasia patients, aged between 52 and 56 years. In each case, we observed chromosome rearrangement involving the same 4q24 band. Three patients had a balanced reciprocal translocation as the sole abnormality - t(3;4)(q26;q24), t(4;5)(q24;p16) and t(4;7)(q24;q21) - and the fourth had del(4)(q23q24), +4. We used a set of 4q BAC probes for fluorescent in situ hybridization (FISH) in these four cases. We found a 4q24 submicroscopic deletion in all three translocations, with a common deletion of approximately 0.5 Mb. In three cases, we concluded that rearrangement occurred in an early hematopoietic stem cell, as it was detected, in mosaic with a normal karyotype, in a fraction of remission bone marrow cells, peripheral T and B lymphocytes, malignant lymph node T-lymphoma cells in one case and B-lymphoblastoid cell lines established in two cases. Moreover, one of 10 additional AML patients tested by FISH had a normal karyotype and deletion of one of the commonly deleted probe sequences. A tumor suppressor gene may therefore be involved, especially as two patients developed malignant lymphoma at the same time as myeloid proliferation.

We report a case of fetoplacental discrepancy with normal karyotype on chorionic villi and deletion of the long arm of chromosome 18 on amniotic fluid. Cytogenetic tests were repeated because of a short corpus callosum on ultrasound examination. This 18q-syndrome has been reported to be associated with poor neurodevelopmental outcome.

Through-the-thickness reinforcement (TTR) techniques have been increasingly applied to fiber-reinforced polymer composite laminates to reduce the issues caused by the weak out-of-plane properties which can reduce significantly their load-bearing capacity. The present work investigates the electrical response of carbon tuft threads as reinforcements of GFRP omega stiffened panel. Besides the mechanical contribution of the tuft reinforcements to the composites structures, this study focuses on the evaluation of the electrical response on the tufted yarns as a means of monitor the structural health. The first studies consisted of evaluating GFRP composite laminate plates reinforced with carbon tufts by means of the electrical response through tufts to damage generated by multiple low-velocity impacts. Once the tufts exhibited their ability to respond continuously while increasing damage, pull-off mechanical tests were performed in the omega stiffeners assisted by electrical resistance measurements as well as acoustic emission (AE) and Digital Image Correlation (DIC). The results showed that the measures of electric resistance on the yarns are capable to distinguish important events during the mechanical tests, as the delamination and tuft failure. Furthermore, they are in common agreement with the cumulative energy on AE and strain field response on DIC.

Crigler–Najjar syndrome type I (CN-I) is a rare and severe autosomal recessive metabolic disease due to a total deficiency of bilirubin uridine diphosphate glucuronosyltransferase located on chromosome 2. We report on a child with CN-I due to a phenylalanine residue deletion inherited only from the father carrying this deletion at the heterozygous state. Cytogenetic analyses showed no deletion of the chromosomal 2q37 region. Microsatellite analysis of the child and his parents was consistent with paternal isodisomy for chromosome 2 in the child. This report demonstrates that uniparental disomy may be at the origin of very rare diseases transmitted as autosomal recessive traits and emphasizes the need for parental DNA analysis in such cases.

We determined bone marrow karyotype at diagnosis in four female acute myeloid leukemia (AML) or myelodysplasia patients, aged between 52 and 56 years. In each case, we observed chromosome rearrangement involving the same 4q24 band. Three patients had a balanced reciprocal translocation as the sole abnormality – t(3;4)(q26;q24), t(4;5)(q24;p16) and t(4;7)(q24;q21) – and the fourth had del(4)(q23q24), +4. We used a set of 4q BAC probes for fluorescent in situ hybridization (FISH) in these four cases. We found a 4q24 submicroscopic deletion in all three translocations, with a common deletion of approximately 0.5 Mb. In three cases, we concluded that rearrangement occurred in an early hematopoietic stem cell, as it was detected, in mosaic with a normal karyotype, in a fraction of remission bone marrow cells, peripheral T and B lymphocytes, malignant lymph node T-lymphoma cells in one case and B-lymphoblastoid cell lines established in two cases. Moreover, one of 10 additional AML patients tested by FISH had a normal karyotype and deletion of one of the commonly deleted probe sequences. A tumor suppressor gene may therefore be involved, especially as two patients developed malignant lymphoma at the same time as myeloid proliferation.

This study examines the potential influence of the Federal Reserve policy on Bitcoin price dynamics. The empirical investigation is based on methodologies to quantify the influence of the Fed Funds rate on Bitcoin through linear, nonlinear, and spillover effects. It covers a set of six representative assets, including Bitcoin, Fed Funds rate, S&P 500, 10-year US Treasury Bond, USD/EUR, and Gold from January 2015 to February 2021. Evidence is provided that Fed Funds rates have nonlinear effects and temporarily strong spillover effects on Bitcoins.

Nowadays, nonlinear vibration methods are increasingly used for the detection of damage mechanisms in polymer matrix composite (PMC) materials, which are anisotropic and heterogeneous. The originality of this study was the use of two nonlinear vibration methods to detect different types of damage within PMC through an in situ embedded polyvinylidene fluoride (PVDF) piezoelectric sensor. The two used methods are nonlinear resonance (NLR) and single frequency excitation (SFE). They were first tested on damage introduced during the manufacturing of the smart PMC plates, and second, on the damage that occurred after the manufacturing. The results show that both techniques are interesting, and probably a combination of them will be the best choice for SHM purposes. During the experimentation, an accelerometer was used, in order to validate the effectiveness of the integrated PVDF sensor.

High-pressure hydrogen storage vessels type IV (HPV), made from carbon fiber-reinforced composites, are essential for hydrogen-powered applications due to their strength and light weight. However, they remain vulnerable to internal defects such as porosities, which can compromise structural integrity. While certification tolerates some porosity, excessive levels may lead to failure. This study aims to predict both the number of porosity and the porosity rate category (low vs. medium/high) using XTRACTIS (XTS), a general reasoning artificial intelligence system, capable of automatically inducing robust and intelligible predictive models. For porosity rate classification, XTS and Boosted Tree were unable to find a robust model, due to a lack of information and erroneous values of the variable to be predicted. To model the log10 of the number of porosities, XTS automatically selected 15 out of the available 58 manufacturing variables to build 56 fuzzy IF…THEN rules, achieving an RMSE of 7.94% and a correlation of 0.824 on an external test dataset. The interpretable rules reveal relationships between process parameters and porosity characteristics, thus facilitating the understanding of defect formation mechanisms. The analysis revealed that uniform and stable fiber tension improves compaction and reduces voids, while heterogeneous or insufficient tension increases porosity. Optimized mandrel speed and winding angle enhance fiber alignment and resin distribution. Precise control of winding layer volume and doctor blade angle prevents dry zones and resin-rich areas, reducing porosity risk. Furthermore, the results emphasize the importance of monitoring and tuning multiple interacting parameters simultaneously to ensure composite quality. These findings highlight the value of augmented fuzzy cognitive AI in uncovering interpretable, domain-relevant interactions, supporting quality control and process optimization in advanced composite manufacturing.