Exploring the ability of plasma pTau217, pTau181 and beta-amyloid in mirroring cerebrospinal fluid biomarker profile of Mild Cognitive Impairment by the fully automated Lumipulse platform.

Background: The approval of new disease-modifying therapies by the U.S. Food and Drug Administration and the European Medicine Agency makes it necessary to optimize non-invasive and cost-effective tools for the identification of subjects at-risk of developing Alzheimer's Disease (AD).

Amine adducts of triallylborane as highly reactive allylborating agents for Cu(I)-catalyzed allylation of chiral sulfinylimines.

The implementation of selective catalytic processes with highly active reagents is an attractive strategy that meets the modern principles of sustainable development of chemistry. In the current study, we for the first time describe the method and general principles of Cu(I)-catalyzed allylation of imines with amine adducts of allylic triorganoboranes. Triallylborane is an extremely reactive compound and cannot be used for the catalytic allylation of imines, whereas its amine adducts are ideal substrates for catalysis.

The unique monoclonal antibodies and immunochemical assay for comprehensive determination of the cell-bound and soluble HER2 in different biological samples.

The expression of the HER2 (human epidermal growth factor receptor 2) protein in cancer cells is a well-established cancer marker used for diagnostic and therapeutic purposes in modern treatment protocols, especially in breast cancer. The gold-standard immunohistochemical diagnostic methods with the specific anti-HER2 antibodies are utilized in the clinic to measure expression level of the membrane-bound receptor. However, a soluble extracellular domain (ECD) of HER2 is released to the extracellular matrix, thus the blood assays for HER2 measurements present an attractive way for HER2 level determination.

Microscopic mechanisms of pressure-induced amorphous-amorphous transitions and crystallisation in silicon.

Some low-coordination materials, including water, silica, and silicon, exhibit polyamorphism, having multiple amorphous forms. However, the microscopic mechanism and kinetic pathway of amorphous-amorphous transition (AAT) remain largely unknown. Here, we use a state-of-the-art machine-learning potential and local structural analysis to investigate the microscopic kinetics of AAT in silicon after a rapid pressure change.

Stimuli-responsive polypeptide nanogels for trypsin inhibition.

A new type of hydrophilic, biocompatible, and biodegradable polypeptide nanogel depots loaded with the natural serine protease inhibitor α1-antitrypsin (AAT) was applied for the inhibition of the inflammatory mediator trypsin. Two types of nanogels were prepared from linear synthetic polypeptides based on biocompatible and biodegradable poly[ -(2-hydroxyethyl)-ʟ-glutamine-- -propargyl-ʟ-glutamine-- -(6-aminohexyl)-ʟ-glutamine]-- -[2-(4-hydroxyphenyl)ethyl)-ʟ-glutamine] (PHEG-Tyr) or biocompatible -ʟ-lysine-grafted α,β-poly[(2-propyne)-ᴅ,ʟ-aspartamide--(2-hydroxyethyl)-ᴅʟ-aspartamide--(2-(4-hydroxyphenyl)ethyl)-ᴅʟ-aspartamide] ( -Lys-NG). Both nanogels were prepared by HRP/HO-mediated crosslinking in inverse miniemulsions with pH and temperature-stimuli responsive behavior confirmed by dynamic light scattering and zeta potential measurements.

Alpha-1-Antitrypsin Experience for Steroid-Resistant Acute Graft-Versus-Host Disease.

Steroid-refractory acute graft-versus-host disease (SR-aGVHD) treatment has a low response rate and a high risk of infection in allogeneic hematopoietic stem cell transplantation. The standard approach to be applied in this situation is uncertain. This study aims to evaluate the effectiveness and safety of alpha-1-antitrypsin (AAT).

Correction: Synthesis of nanostructured catalysts by surfactant-templating of large-pore zeolites.

[This corrects the article DOI: 10.1039/C9NA00004F.].

Two closely spaced mutations result in Ullrich congenital muscular dystrophy.

A 2-year-old boy was diagnosed with Ullrich congenital muscular dystrophy (UCMD) by muscle biopsy. COL6A3 gene analysis by next-generation sequencing revealed two heterozygous splice-site mutations (c.6283-1 G > G/T and c.

A western route of prehistoric human migration from Africa into the Iberian Peninsula.

Being at the western fringe of Europe, Iberia had a peculiar prehistory and a complex pattern of Neolithization. A few studies, all based on modern populations, reported the presence of DNA of likely African origin in this region, generally concluding it was the result of recent gene flow, probably during the Islamic period. Here, we provide evidence of much older gene flow from Africa to Iberia by sequencing whole genomes from four human remains from northern Portugal and southern Spain dated around 4000 years BP (from the Middle Neolithic to the Bronze Age).

Correction: Synthesis of nanostructured catalysts by surfactant-templating of large-pore zeolites.

[This corrects the article DOI: 10.1039/C9NA00004F.].

Comparative sequence analysis of patient-matched primary colorectal cancer, metastatic, and recurrent metastatic tumors after adjuvant FOLFOX chemotherapy.

Background: In the era of genome-guided personalized cancer treatment, we must understand chemotherapy-induced genomic changes in tumors. This study evaluated whether adjuvant FOLFOX chemotherapy modifies the mutational profile of recurrent colorectal cancer (CRC).

Methods: Whole exome sequencing was performed on samples from primary CRC tumors, untreated metastatic tumors, and recurrent tumors following adjuvant FOLFOX chemotherapy.

Synthesis of nanostructured catalysts by surfactant-templating of large-pore zeolites.

Zeolites and related crystalline molecular sieves are utilised in a wide range of reactions and processes due to their regular microporous structure, strong acidity, shape selectivity and ion-exchange properties. However, their practical applications can be limited by the small size of the channels and cavities of the microporous structures, and therefore, a great deal of effort has been devoted to enhancing the transport of large-sized molecules in the host pores. Several commercially available zeolites, including faujasite (FAU), mordenite (MOR), beta (BEA), ZSM-5 (MFI) and zeolite L (LTL), have been exposed to a variety of acid and base treatments in the presence of a surfactant (cetyltrimethyl ammonium bromide, CTAB), which led to the controlled introduction of intracrystalline mesoporosity.

Prebiotic supplementation over a cold season and during antibiotic treatment specifically modulates the gut microbiota composition of 3-6 year-old children.

Supplementing kindergarten children during a cold season with a prebiotic inulin-type fructans product with shorter and longer fructan chains has been shown to reduce febrile episodes requiring medical attention and to lower the incidence of sinusitis. These beneficial effects may be connected to the specific modulation of children's gut microbiota. By applying quantitative and qualitative microbiota analysis this study aimed at characterising the gut microbiota composition and at exploring effects of prebiotic intervention on the gut microbiota during a 24-weeks intervention and during antibiotic treatment in healthy children.

Alpha-1 antitrypsin deficiency as a common treatable mechanism in chronic respiratory disorders and for conditions different from pulmonary emphysema? A commentary on the new European Respiratory Society statement.

Background: The European Respiratory Society recently published an important statement reviewing available evidence on diagnosis and treatment of lung disease associated to alpha-1 antitrypsin deficiency (AATD). Several issues on this topic still remain unresolved and subject of interpretation according to different standard procedures and healthcare systems worldwide. The purpose of this commentary is to offer a critical contribution to most of these controversial issues in light of an Italian perspective for the management of this disease.

Expression, Purification, and Characterization of Recombinant Human α-Antitrypsin Produced Using Silkworm-Baculovirus Expression System.

Human α-antitrypsin (AAT) is the most abundant serine proteinase inhibitor (serpin) in the human plasma. Commercially available AAT for the medications of deficiency of α-antitrypsin is mainly purified from human plasma. There is a high demand for a stable and low-cost supply of recombinant AAT (rAAT).

Role for Cela1 in Postnatal Lung Remodeling and Alpha-1 Antitrypsin-Deficient Emphysema.

Alpha-1 antitrypsin (AAT) deficiency-related emphysema is the fourth leading indication for lung transplant. Chymotrypsin-like elastase 1 (Cela1) is a digestive protease that is expressed during lung development in association with regions of elastin remodeling, exhibits stretch-dependent expression during lung regeneration, and binds lung elastin in a stretch-dependent manner. AAT covalently neutralizes Cela1 in vitro.

Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency.

The SERPINA1 gene is highly polymorphic, with more than 100 variants described in databases. SERPINA1 encodes the alpha-1 antitrypsin (AAT) protein, and severe deficiency of AAT is a major contributor to pulmonary emphysema and liver diseases. In Spanish patients with AAT deficiency, we identified seven new variants of the SERPINA1 gene involving amino acid substitutions in different exons: PiSDonosti (S+Ser14Phe), PiTijarafe (Ile50Asn), PiSevilla (Ala58Asp), PiCadiz (Glu151Lys), PiTarragona (Phe227Cys), PiPuerto Real (Thr249Ala), and PiValencia (Lys328Glu).

Explicit and Implicit Approach vs. Avoidance Tendencies towards High vs. Low Calorie Food Cues in Patients with Obesity and Active Binge Eating Disorder.

Patients with binge eating disorder (BED) suffer from regular food binges with loss of control. This may be due to dysfunctional approach vs. avoidance tendencies towards food in BED.

Structural and physiological neurovascular changes in idiopathic Parkinson's disease and its clinical phenotypes.

Neurovascular changes are likely to interact importantly with the neurodegenerative process in idiopathic Parkinson's disease (IPD). Markers of neurovascular status (NVS) include white matter lesion (WML) burden and arterial spin labelling (ASL) measurements of cerebral blood flow (CBF) and arterial arrival time (AAT). We investigated NVS in IPD, including an analysis of IPD clinical phenotypes, by comparison with two control groups, one with a history of clinical cerebrovascular disease (CVD) (control positive, CP) and one without CVD (control negative, CN).

Explicit and implicit approach vs. avoidance tendencies towards high vs. low calorie food cues in patients with anorexia nervosa and healthy controls.

Patients with anorexia nervosa (AN) have a strong ability to limit food intake. Thus, dysfunctional approach vs. avoidance behaviors towards food are evident in AN.