Carbon nanofibers based carbon-carbon composite fibers.

Textile grade polyacrylonitrile (PAN) was used as a precursor material for carbon fiber preparation. E-beam irradiated polyacrylonitrile grafted carbon nanofibers were dispersed in polyacrylonitrile solution (dissolved in dimethyl formamide). Carbon nanofibers (CNF) infused polyacrylonitrile solution was wet spun on a lab-scale wet-spinning setup to form 50 to 70 µm diameter fibers with 3.

A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings.

Sequence variants and duplications in the HECT, UBA and WWE domain -containing 1 (HUWE1) E3 ubiquitin ligase gene have been associated with X-linked mild to severe intellectual disability (ID), but a solid phenotype pattern among the affected males is still remaining to be established. Here, we report a male patient with sporadic, severe and syndromic ID, carrying a novel and unique 842 kb duplication at Xp11.22, including the dosage-sensitive HUWE1 gene and other fifteen curated RefSeq genes.

Premature termination of clinical trials in Spain: reasons, characteristics, and opportunities to improve.

Purpose: The aim of this study is to determine the rate of prematurely terminated clinical trials (CTs) and describe primary reasons and characteristics, and suggest strategies to improve.

Methods: We performed a retrospective, observational, cross-sectional study including all CTs registered in the Spanish Registry of Clinical Studies (REec) from January 1, 2013 to November 31, 2021. A descriptive analysis of reasons for premature termination was made.

Reporter gene systems: A powerful tool for studies.

Protozoan parasites of the genus are responsible for leishmaniases, one of the most important anthropozoonotic diseases affecting millions of people worldwide. To date, there are no approved vaccines against leishmaniases for humans. At present, available treatment options lack specificity, which may lead to drug resistance and often cause adverse effects.

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that converge on the WNT/planar cell polarity (PCP) signaling pathway implicated (, , , , , and ). RS is characterized by skeletal dysplasia and distinctive facial and physical characteristics. To further explore the genetic heterogeneity, paralog contribution, and phenotypic variability of RS, we investigated a cohort of 22 individuals clinically diagnosed with RS from 18 unrelated families.

Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome.

MECP2 duplication syndrome (MDS) is caused by copy number variation (CNV) spanning the MECP2 gene at Xq28 and is a major cause of intellectual disability (ID) in males. Herein, we describe two unrelated males harboring non-recurrent complex Xq28 rearrangements associated with MDS. Copy number gains were initially detected by quantitative real-time polymerase chain reaction and further delineated by high-resolution array comparative genomic hybridization, familial segregation, expression analysis and X-chromosome inactivation (XCI) evaluation in a carrier mother.

Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion.

In mammalian females, X-chromosome inactivation (XCI) acts as a dosage compensation mechanism that equalizes X-linked genes expression between homo- and heterogametic sexes. However, approximately 12-23% of X-linked genes escape from XCI, being bi-allelic expressed. Herein, we report on genetic and functional data from an asymptomatic female of a Fragile X syndrome family, who harbors a large deletion on the X-chromosome.

Aliphatic Polyester Nanofibers Functionalized with Cyclodextrins and Cyclodextrin-Guest Inclusion Complexes.

The fabrication of nanofibers by electrospinning has gained popularity in the past two decades; however, only in this decade, have polymeric nanofibers been functionalized using cyclodextrins (CDs) or their inclusion complexes (ICs). By combining electrospinning of polymers with free CDs, nanofibers can be fabricated that are capable of capturing small molecules, such as wound odors or environmental toxins in water and air. Likewise, combining polymers with cyclodextrin-inclusion complexes (CD-ICs), has shown promise in enhancing or controlling the delivery of small molecule guests, by minor tweaking in the technique utilized in fabricating these nanofibers, for example, by forming core⁻shell or multilayered structures and conventional electrospinning, for controlled and rapid delivery, respectively.

The impact of tomato fruits containing multi-walled carbon nanotube residues on human intestinal epithelial cell barrier function and intestinal microbiome composition.

Carbon nanomaterials (CNMs) can positively regulate seed germination and enhance plant growth. However, clarification of the impact of plant organs containing absorbed CNMs on animal and human health is a critical step of risk assessment for new nano-agro-technology. In this study, we have taken a comprehensive approach to studying the effect tomato fruits derived from plants exposed to multi-walled carbon nanotubes (CNTs) have on gastrointestinal epithelial barrier integrity and their impact on the human commensal intestinal microbiota using an in vitro cell culture and batch human fecal suspension models.

Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease.

Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder that affects branched-chain amino acid (BCAA) catabolism and is associated with acute and chronic brain dysfunction. Recent studies have shown that inflammation may be involved in the neuropathology of MSUD. However, these studies have mainly focused on single or small subsets of proteins or molecules.

Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

[This corrects the article DOI: 10.1371/journal.pone.

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

Introduction: The association between the BTD genotype and biochemical phenotype [profound biotinidase deficiency (BD), partial BD or heterozygous activity] is not always consistent. This study aimed to investigate the genotype-biochemical phenotype association in patients with low biotinidase activity.

Methods: All exons, the 5'UTR and the promoter of the BTD gene were sequenced in 72 Brazilian individuals who exhibited low biotinidase activity.

Novel cellulose-collagen blend biofibers prepared from an amine/salt solvent system.

Cellulose/collagen biofibers were produced from ethylene diamine/potassium thiocyanate binary solvent system, with methanol as a coagulant. The dynamic viscosity of the solutions decreased with the gradual increase in the collagen content up to 40%. The elemental analysis showed incorporation of collagen into cellulose matrix, thereby demonstrating some degree of interaction with the cellulose matrix.

Finding FMR1 mosaicism in Fragile X syndrome.

Objective: Almost all patients with Fragile X Syndrome (FXS) exhibit a CGG repeat expansion (full mutation) in the Fragile Mental Retardation 1 gene (FMR1). Here, the authors report five unrelated males with FXS harboring a somatic full mutation/deletion mosaicism.

Methods: Mutational profiles were only elucidated by using a combination of molecular approaches (CGG-based PCR, Sanger sequencing, MS-MLPA, Southern blot and mPCR).

Fabrication and Characterization of Poly(ε-caprolactone)/α-Cyclodextrin Pseudorotaxane Nanofibers.

Multifunctional scaffolds comprising neat poly(ε-caprolactone) (PCL) and α-cyclodextrin pseudorotaxanated in α-cyclodextrin form have been fabricated using a conventional electrospinning process. Thorough in-depth characterizations were performed on the pseudorotaxane nanofibers prepared from chloroform (CFM) and CFM/dimethylformamide (DMF) utilizing scanning electron microscopy (SEM), transmission electron microscopy (TEM), rheology, differential scanning calorimetry (DSC), thermogravimetric analyses (TGA), wide-angle X-ray diffraction (WAXD), and Instron tensile testing. The results indicate the nanofibers obtained from chloroform retain the rotaxanated structure; while those obtained from CFM/DMF had significantly dethreaded during electrospinning.

Medical Costs Related to Enzyme Replacement Therapy for Mucopolysaccharidosis Types I, II, and VI in Brazil: A Multicenter Study.

Background: Mucopolysaccharidosis (MPS) type I (MPS I), MPS type II (MPS II), and MPS type VI (MPS VI) are lysosomal storage disorders for which enzyme replacement therapy (ERT) is available.

Objective: The objective of this study was to evaluate the frequency of medical interventions in a cohort of patients with MPS I, II, and VI on ERT to estimate the impact of direct medical costs associated with the treatment of MPS and compare its frequency with that observed among patients not on ERT.

Methods: This was a multicenter study using a retrospective design including a convenience sampling of Brazilian patients with MPS I, II, and VI.

Preparation of alginate-chitosan fibers with potential biomedical applications.

The preparation of alginate-chitosan fibers, through wet spinning technique, as well as the study of their properties as a function of chitosan's molecular weight and retention time in the coagulation bath, is presented and discussed in this work. Scanning electron microscopy (SEM) revealed that the fibers presented irregular and rough surfaces, with a grooved and heavily striated morphology distributed throughout the structure. Dynamic mechanical analysis (DMA) showed that, with the exception of elongation at break, the incorporation of chitosan into the fibers improved their tensile properties.

Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.

In this study, 103 unrelated South-American patients with mucopolysaccharidosis type II (MPS II) were investigated aiming at the identification of iduronate-2-sulfatase (IDS) disease causing mutations and the possibility of some insights on the genotype-phenotype correlation The strategy used for genotyping involved the identification of the previously reported inversion/disruption of the IDS gene by PCR and screening for other mutations by PCR/SSCP. The exons with altered mobility on SSCP were sequenced, as well as all the exons of patients with no SSCP alteration. By using this strategy, we were able to find the pathogenic mutation in all patients.

Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.

Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive.

Ethical issues related to the access to orphan drugs in Brazil: the case of mucopolysaccharidosis type I.

Background/aims: Mucopolysaccharidosis type I (MPS I) is a rare lysosomal storage disorder treated with bone marrow transplantation or enzyme replacement therapy with laronidase, a high-cost orphan drug. Laronidase was approved by the US Food and Drug Administration and the European Medicines Agency in 2003 and by the Brazilian National Health Surveillance Agency in 2005. Many Brazilian MPS I patients have been receiving laronidase despite the absence of a governmental policy regulating access to the drug.

[Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: recommendations from a group of Brazilian F experts].

Mucopolysaccharidoses (MPS) are rare genetic diseases caused by deficiency of specific lysosomal enzymes that affect catabolism of glycosaminoglycans (GAG). Accumulation of GAG in various organs and tissues in MPS patients results in a series of signs and symptoms, producing a multisystemic condition affecting bones and joints, the respiratory and cardiovascular systems and many other organs and tissues, including in some cases, cognitive performance. So far, eleven enzyme defects that cause seven different types of MPS have been identified.