Severity and organ distribution of graft-versus-host disease with post-transplant cyclophosphamide versus calcineurin inhibitor plus methotrexate/mycophenolate mofetil or sirolimus in allogenic HLA-matched or single-allele mismatched stem cell transplantation.

Objective: This retrospective single center study aims to describe changes in the severity and organ-specific distribution of GvHD, by comparing the outcomes of 3 distinct GvHD prophylaxis approaches.

Methods: Between January 2012 and June 2022, 226 patients underwent allogeneic hematopoietic stem cell transplantation from HLA-matched or 1-allele mismatched related or unrelated donors. Fifty-eight (26%) received prophylaxis with calcineurin inhibitor in combination with mycophenolate mofetil or a short course of methotrexate (Cohort-1), 87 (38%) tacrolimus plus sirolimus (Cohort-2), and 81 (36%) post-transplant cyclophosphamide (PTCy) plus tacrolimus (Cohort-3).

Outcome improvement over time in reduced intensity conditioning hematopoietic transplantation: a 20-year experience.

The current study includes all consecutive patients (N = 484) who received a reduced-intensity conditioning regimen (RIC) allogeneic hematopoietic stem cell transplantation in our center from 1999 to 2020. Conditioning regimens were based on fludarabine with melphalan or busulfan, with low-dose thiotepa and pharmacological GVHD prophylaxis consisted of cyclosporine A (CsA)-methotrexate (MTX)/mofetil (MMF) (n = 271), tacrolimus-sirolimus (n = 145), and post-transplantation cyclophosphamide (PTCy)-tacrolimus (n = 68). The median time of overall follow-up in survivors was 8 years (1-22 years) and was at least 3 years in all three GVHD prophylaxis groups.

Diagnosis and clinical management of thrombotic thrombocytopenic purpura (TTP): a consensus statement from the TTP Catalan group.

Thrombotic thrombocytopenic purpura (TTP) is a low prevalence disease characterized by severe deficiency of the enzyme ADAMTS13, leading to the development of thrombotic microangiopathy (TMA) and often resulting in severe organ disfunction. TTP is an extremely serious condition and, therefore, timely and appropriate treatment is critical to prevent life-threatening complications.Over the past 25 years, significant advances in the understanding of the pathophysiology of immune TTP have led to the development of readily available techniques for measuring ADAMTS13 levels, as well as new drugs that are particularly effective in the acute phase and in preventing relapses.

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.

There are few causes of treatable neurodevelopmental diseases described to date. Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency causes branched-chain amino acid (BCAA) depletion and is linked to a neurodevelopmental disorder characterized by autism, intellectual disability and microcephaly. We report the largest cohort of patients studied, broadening the phenotypic and genotypic spectrum.

Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders.

Purpose: Inborn errors of neurotransmitters are rare monogenic diseases. In general, conventional neuroimaging is not useful for diagnosis. Nevertheless, advanced neuroimaging techniques could provide novel diagnosis and prognosis biomarkers.

Efficacy and Safety of Ruxolitinib in Steroid-Refractory/Dependent Chronic Graft-versus-Host Disease: Real-World Data and Challenges.

Steroid-refractory (SR) chronic graft-versus-host disease (cGVHD) is a major obstacle in recipients of allogeneic stem cell transplantation (HCT). Ruxolitinib is the first agent to demonstrate superior efficacy to the best available therapy, but real-life data are still lacking. Here we describe the results of ruxolitinib compassionate use for the treatment of SR/steroid-dependent cGVHD in a tertiary care university hospital.

Patterns of infection and infectious-related mortality in patients receiving post-transplant high dose cyclophosphamide as graft-versus-host-disease prophylaxis: impact of HLA donor matching.

Post-transplant cyclophosphamide (PTCy) has become a promising option after allo-SCT, but infections may be more common than in traditional protocols. We herein report 117 consecutive adults who received PTCy-based alloSCT in our hospital: HaploSCT (34%), MRD (19%), and VUD (47%), respectively. The 18-month incidence of severe bacterial, viral, and IFI was 56%, 69%, and 8.

Frameless robot-assisted stereoelectroencephalography for refractory epilepsy in pediatric patients: accuracy, usefulness, and technical issues.

Background: Stereoelectroencephalography (SEEG) is an effective technique to help to locate and to delimit the epileptogenic area and/or to define relationships with functional cortical areas. We intend to describe the surgical technique and verify the accuracy, safety, and effectiveness of robot-assisted SEEG in a newly created SEEG program in a pediatric center. We focus on the technical difficulties encountered at the early stages of this program.

Influence of deep water formation by open-sea convection on the transport of low hydrophobicity organic pollutants in the NW Mediterranean Sea.

The significance of the offshore vertical convection currents in the transport and sinking of water-soluble organic pollutants into marine deep basins has been evaluated. For this purpose, sediment cores were collected in the Gulf of Lion (GoL) at sites between 26 and 2330 m water depth. The top core layers were analyzed for aromatic and aliphatic hydrocarbons and organochlorine compounds.

Removal of bias in C alkenone-based sea surface temperature measurements by high-performance liquid chromatography fractionation.

Sea surface temperature determinations based on marine sedimentary C alkenone distributions have provided a wealth of data for paleoclimatic studies, including those performed at high resolution. The success of this approach results from several characteristics of alkenone compounds, e.g.

Comparing ultraviolet light A photo(chemo)therapy with Methotrexate protocol in childhood localized scleroderma: Evidence from systematic review and meta-analysis approach.

Objective: Localized scleroderma is a skin fibrosing disorder that, if untreated, may result in severe disability. The purpose of this systematic review is to compare the present evidence concerning the effectiveness of Methotrexate versus phototherapy, alone or associated with Psoralen, in childhood localized scleroderma.

Method: A systematic search between January 1996 and May 2017 was performed to identify studies investigating the efficacy of Methotrexate (MTX) or phototherapy (UVA) for treating localized scleroderma with onset ≤18 years.

Hemothorax in vascular Ehlers-Danlos syndrome.

Vascular Ehlers-Danlos syndrome (EDS IV) is a rare genetic disorder characterized by an alteration in the COL3A1 gene which encodes type III collagen. It is the most common type of collagen in vessels of medium size and certain organs such as the intestines and the uterus. The alteration of this type of collagen produces aneurisms and ruptures of vessels and organs.

Assessment of analytical methods to determine pyrethroids content of bednets.

Objective: To present and evaluate simple, cost-effective tests to determine the amount of insecticide on treated materials.

Methods: We developed and evaluated a competitive immunoassay on two different platforms: a label-free impedimetric biosensor (EIS biosensor) and a lateral flow. Both approaches were validated by gas chromatography (GC) and ELISA, gold standards for analytical methods and immunoassays, respectively.

Broad spectrum analysis of polar and apolar organic compounds in submicron atmospheric particles.

A method for the quantitative analysis of organic compounds on submicron particulate matter (PM1) collected on quartz filters was developed. The compounds analyzed encompassed C22-C35 alkanes, polycyclic aromatic hydrocarbons (PAHs), quinones, levoglucosan, cis-pinonic acid and short chain dicarboxylic acids such as malonic, succinic, glutaric, adipic, suberic, azelaic, malic and phthalic acids. The method included extraction with a pressure liquid extraction system, sample filtration though glass fibre filter, fractionation by high performance liquid chromatography and subsequent analysis by gas chromatography coupled to mass spectrometry.

A modified recombineering protocol for the genetic manipulation of gene clusters in Aspergillus fumigatus.

Genomic analyses of fungal genome structure have revealed the presence of physically-linked groups of genes, termed gene clusters, where collective functionality of encoded gene products serves a common biosynthetic purpose. In multiple fungal pathogens of humans and plants gene clusters have been shown to encode pathways for biosynthesis of secondary metabolites including metabolites required for pathogenicity. In the major mould pathogen of humans Aspergillus fumigatus, multiple clusters of co-ordinately upregulated genes were identified as having heightened transcript abundances, relative to laboratory cultured equivalents, during the early stages of murine infection.

Agenesis of the corpus callosum in a newborn with turner mosaicism.

The agenesis of the corpus callosum results from a failure in the development of the largest fiber bundle that connects cerebral hemispheres. Patient's outcome is influenced by etiology and associated central nervous system malformations. We describe a child with Turner syndrome (TS) mosaicism, with particular phenotype features and a complete agenesis of the corpus callosum.

Persistent organic pollutant accumulation in seasonal snow along an altitudinal gradient in the Tyrolean Alps.

The snow capacity for storage of a large number of pollutants such as polybromodiphenyl ethers (PBDE), including BDE-209, polycyclic aromatic hydrocarbons (PAHs), polychlorobiphenyls (PCBs), hexachlorocyclohexanes (HCHs; α- and γ-isomers), endosulfans (α- and β-isomers and the sulphate residue) and hexachlorobenzene (HCB), in a steep altitudinal gradient (1,101-2,500 m above sea level (asl); maximum planar distance 16 km) in a typical European mountain system, the Tyrolean Alps (Austria), was studied here for the first time. Snow samples representing the whole snowpack accumulated at the end of the cold season were collected in all cases. The snow specific surface area (SSA) of these samples, 140-260 cm(2) g(-1), was characteristic of aged snow with low retention capacity.

Expression of arthropod distal limb-patterning genes in the onychophoran Euperipatoides kanangrensis.

A current hypothesis states that the ancestral limb of arthropods is composed of only two segments. The proximal segment represents the main part of the modern leg, and the distal segment represents the tarsus and claw of the modern leg. If the distal part of the limb is an ancestral feature, one would expect conserved regulatory gene networks acting in distal limb development in all arthropods and possibly even their sister group, the onychophorans.

Changes in lipid content and fatty acid composition along the reproductive cycle of the freshwater mussel Dreissena polymorpha: its modulation by clofibrate exposure.

Total lipids and fatty acid profiles were determined along the reproductive cycle of the zebra mussel (Dreissena polymorpha). A total of 33 fatty acids with carbon atoms from 14 to 22 were identified: palmitic acid (16:0) was the most abundant fatty acid (13-24%) followed by docosahexaenoic acid (DHA; 22:6n-3), eicosapentaenoic acid (EPA; 20:5n-3) and palmitoleic acid (16:1n-7). Some individual fatty acids (16:0, 16:2n-4, 18:1n-7, 18:2n-6, 18:3n-4, 18:4n-3, 20:4n-3, 20:5n-3) were strongly related to reproductive events, while others having structural-type functions (18:0 and 22:6n-3) were rather stable during the study period.

Transformation of PBDE mixtures during sediment transport and resuspension in marine environments (Gulf of Lion, NW Mediterranean Sea).

Polybromodiphenyl ethers (PBDEs) in superficial sediments from the Gulf of Lion were studied. They were largely predominated by BDE 209 (98.7% of all PBDEs) indicating that the main source of these pollutants was the commercial mixture deca-BDE.

Influences of natural emission sources (wildfires and Saharan dust) on the urban organic aerosol in Barcelona (Western Mediterranean Basis) during a PM event.

The urban air quality in Barcelona in the Western Mediterranean Basin is characterized by overall high particulate matter (PM) concentrations, due to intensive local anthropogenic emissions and specific meteorological conditions. Moreover, on several days, especially in summer, natural PM sources, such as long-range transported Saharan dust from Northern Africa or wildfires on the Iberian Peninsula and around the Mediterranean Basin, may influence the levels and composition of the organic aerosol. In the second half of July 2009, daily collected PM(10) filter samples in an urban background site in Barcelona were analyzed on organic tracer compounds representing several emission sources.

A severe valproate overdose with complete recovery in a newborn.

Valproate overdose, extensively described in adults and older children, has been reported in only 1 newborn: a 26-day-old female who developed a severe cerebral edema leading to a fatal outcome. Therefore, the consequences of valproate overdose are largely unknown in the neonatal period. Here, we present the clinical evolution of a 6-day-old newborn who developed hyperammonemic encephalopathy after the accidental administration of 310 mg/kg of oral valproate in a single dose.

Role of dense shelf water cascading in the transfer of organochlorine compounds to open marine waters.

Settling particles were collected by an array of sediment trap moorings deployed along the Cap de Creus (CCC) and Lacaze-Duthiers (LDC) submarine canyons and on the adjacent southern open slope (SOS) between October 2005 and October 2006. This array collected particles during common settling processes and particles transferred to deep waters by dense shelf water cascading (DSWC). Polychlorobiphenyls (PCBs), dichlorodiphenyltrichloroethane and its metabolites (DDTs), chlorobenzenes (CBzs)--pentachlorobenzene and hexachlorobenzene--and hexachlorocyclohexanes were analyzed in all samples.