Deep denitrification: Stream and groundwater biogeochemistry reveal contrasted but connected worlds above and below.

Excess nutrients from agricultural and urban development have created a cascade of ecological crises around the globe. Nutrient pollution has triggered eutrophication in most freshwater and coastal ecosystems, contributing to a loss in biodiversity, harm to human health, and trillions in economic damage every year. Much of the research conducted on nutrient transport and retention has focused on surface environments, which are both easy to access and biologically active.

Characterization of Fatty Acids as Biobased Organic Materials for Latent Heat Storage.

This work aims to characterize phase change materials (PCM) for thermal energy storage in buildings (thermal comfort). Fatty acids, biobased organic PCM, are attractive candidates for integration into active or passive storage systems for targeted application. Three pure fatty acids (capric, myristic and palmitic acids) and two eutectic mixtures (capric-myristic and capric-palmitic acids) are studied in this paper.

Disease impact on general well-being and therapeutic expectations of European Type II and Type III spinal muscular atrophy patients.

Spinal muscular atrophy (SMA) is a neurodegenerative disorder showing a broad clinical spectrum and no cure to date. To design and select evaluation criteria for the potential assessment of drugs currently being developed, the patient's perspective is critical. A survey, aiming to obtain a view on the current clinical state of European Type II and Type III SMA patients, the impact of this situation on their quality of life and their expectations regarding clinical development, was carried out by SMA-Europe member organizations in July 2015.

SMA-EUROPE workshop report: Opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe.

Spinal muscular atrophy (SMA) is the most common lethal recessive disease in childhood, and there is currently no effective treatment to halt disease progression. The translation of scientific advances into effective therapies is hampered by major roadblocks in clinical trials, including the complex regulatory environment in Europe, variations in standards of care, patient ascertainment and enrolment, a narrow therapeutic window and a lack of biomarkers of efficacy. In this context, SMA-Europe organized its first international workshop in July 2012 in Rome, gathering 34 scientists, clinicians and representatives of patient organizations to establish recommendations for improving clinical trials for SMAa.

Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational.

Drug trials in children engage with many ethical issues, from drug-related safety concerns to communication with patients and parents, and recruitment and informed consent procedures. This paper addresses the field of neuromuscular disorders where the possibility of genetic, mutation-specific treatments, has added new complexity. Not only must trial design address issues of equity of access, but researchers must also think through the implications of adopting a personalised medicine approach, which requires a precise molecular diagnosis, in addition to other implications of developing orphan drugs.

Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block.

Background: The origin of congenital or childhood nonimmune isolated atrioventricular (AV) block remains unknown. We hypothesized that this conduction abnormality in the young may be a heritable disease.

Methods And Results: A multicenter retrospective study (13 French referral centers, from 1980-2009) included 141 children with AV block diagnosed in utero, at birth, or before 15 years of age without structural heart abnormalities and without maternal antibodies.

Characteristics and long-term outcome of non-immune isolated atrioventricular block diagnosed in utero or early childhood: a multicentre study.

Aims: The natural history of congenital or childhood non-immune, isolated atrioventricular (AV) block is poorly defined.

Methods And Results: We retrospectively studied 141 children with isolated, non-immune AV block diagnosed in utero, or up to 15 years of age, at 13 French medical centres, between 1980 and 2009. Patients with structural heart disease or maternal antibodies were excluded.

Should we close hypoxaemic patent foramen ovale and interatrial shunts on a systematic basis?

Background: Rarely, hypoxaemia is associated with shunt reversal at the atrial level. Closure by interventional catheterization is the treatment of choice but indications and results have been studied insufficiently.

Purpose: To describe our experience with interventional closure of atrial right-to-left shunts described as hypoxaemic and the impact on patient oxygenation and clinical status.

Mouse mammary tumor virus integration site selection in human and mouse genomes.

Based on integration site preferences, retroviruses can be placed into three groups. Viruses that comprise the first group, murine leukemia virus and foamy virus, integrate preferentially near transcription start sites. The second group, notably human immunodeficiency virus and simian immunodeficiency virus, preferentially targets transcription units.

Rapid spread of mouse mammary tumor virus in cultured human breast cells.

Background: The role of mouse mammary tumor virus (MMTV) as a causative agent in human breast carcinogenesis has recently been the subject of renewed interest. The proposed model is based on the detection of MMTV sequences in human breast cancer but not in healthy breast tissue. One of the main drawbacks to this model, however, was that until now human cells had not been demonstrated to sustain productive MMTV infection.

Promoter complex in the central part of the mouse mammary tumor virus long terminal repeat.

Unique among the retroviruses, mouse mammary tumor virus (MMTV) carries, in addition to the usual long terminal repeat (LTR) promoter, another promoter, P2, which is located in the central part of the proviral U3 sequence, within the LTR open reading frame (ORF). Using an in vitro reporter system based on a sensitive luciferase expression assay, we investigated the regulation of the P2 promoter in the context of the Mtv-2 and Mtv-8 genomes. Irrespective of the genomic source, the activity of the P2 promoter is regulated by a downstream-located enhancer and an upstream-located negative regulatory element (NRE), the activity of which overrides the activator.

Use of Amplatzer fenestrated atrial septal defect device in a child with familial pulmonary hypertension.

In a 4.5-year-old child with refractory pulmonary arterial hypertension, we performed atrial septostomy with the application of an Amplatzer fenestrated device designed to maintain patency. Continuous intravenous epoprostenol infusion was started concomitantly.

Congenital portocaval fistula associated with hepatopulmonary syndrome: ligation vs liver transplantation.

A 4-year-old boy underwent pulmonary testing for diagnosis of exercise-induced dyspnea and subsequent cyanosis. Findings demonstrated the presence of multiple pulmonary arteriovenous fistulas resulting in oxygen desaturation owing to shunting (PaO2, 44 mm Hg). Abdominal ultrasound, abdominal computer tomography, and mesenteric angiography revealed an extrahepatic portocaval fistula (PCF), absence of a patent portal vein, and no evidence of portal hypertension.

Abundant authentic MMTV-Env production from a recombinant provirus lacking the major LTR promoter.

As for all retroviruses, the env mRNA is thought to be a singly spliced product of the full-length transcript from the P1 promoter in the MMTV provirus. However, we show that envelope proteins can be produced in an inducible manner in the absence of the P1 promoter from an otherwise complete provirus. Furthermore, we demonstrate in both reporter assays and the proviral context that the R region is necessary for protein production in transiently transfected cells and in a number of independent, stably transfected cell clones.

Mouse mammary tumor virus infects human cells.

Mouse mammary tumor virus (MMTV) has long been speculated to be involved in human breast cancer and more recently in human primary biliary cirrhosis. Despite complete proviral sequences markedly homologous to MMTV being identified in human breast cancer tissue, no convincing evidence has been presented to date that MMTV can infect human cells. Using both wild-type and a genetically marked virus (MMTV-EGFP), we show here the successful infection of a number of different human cells by MMTV.

A novel, mouse mammary tumor virus encoded protein with Rev-like properties.

We have identified a novel, multiple spliced, subgenomic mRNA species in MMTV producing cells of different origin containing an open reading frame encoding a 39-kDa Rev-like protein, Rem (regulator of expression of MMTV). An EGFP-Rem fusion protein is shown to be predominantly in the nucleolus. Further leptomycin B inhibits the nuclear export of nonspliced MMTV transcripts, implicating Rem in nuclear export by the Crm1 pathway in MMTV.

Stream nitrate variations explained by ground water head fluctuations in a pyrite-bearing aquifer.

In the context of agricultural nitrogen excesses in northwestern France, pyrite-bearing weathered schist aquifers represent important hydrological compartments due to their capacity to eliminate nitrate (NO3-). Under oxygen-free conditions, nitrate is reduced simultaneously with the oxidation of pyrite leading to the release of sulfate (SO4/2-). The aim of the present study is to identify the hydrological conditions under which the weathered schist ground water influences the stream water chemistry, leading to a decrease in NO3- concentration.

[Outcome of operated transposition of the great vessels].

The object of this report is to describe the long-term outcome of patients operated for transposition of the great vessels. Understanding what we mean by transposition of the great vessels, the surgical options with their advantages, limitations and complications, helps the cardiologist decide on the mode of follow-up, the investigations and even the reoperations that these patients may need. The authors review the results of the literature and their experience over the years with children and adults with congenital heart disease.

Linear insertion of atrioventricular valves without septal defect: a new anatomical landmark for Down's syndrome?

Our objective was to explore whether minor anatomical abnormalities of the septal insertion of tricuspid and mitral valves could be a feature of trisomy 21 in fetuses with an otherwise normal heart. Postmortem examinations were performed in 41 fetuses affected by Down's syndrome and in 52 controls. Adjoining the standard postmortem procedure, an apex-to-base section of the crux of the heart was made on a plane corresponding to the sonographic four-chamber view.

[Microdeletion of the chromosome 22q11 in children: apropos of a series of 49 patients].

Unlabelled: Most of the children with Di George syndrome and 60% of patients with velocardiofacial syndrome exhibit a microdeletion within chromosome 22q11. The phenotypic expression of this chromosomal abnormality is highly variable.

Patients: Forty-nine children, 0 to 15 years of age, were demonstrated as carriers of a 22q11 microdeletion.

Clinical and molecular study of DiGeorge sequence.

DiGeorge sequence (DGS) is a developmental field defect of the third and fourth pharyngeal pouches. The cardinal features of the syndrome are hypo- or aplasia of the thymus and parathyroids, congenital heart defect of the conotruncal type and characteristic facial dysmorphism. Such a pattern of malformations has been associated with various conditions but it is now well established that most cases of DGS are due to haplo-insufficiency of the chromosome 22q11 region.

[Behçet's disease in a 2-year-old girl].

The authors report a case of gangrenous stomatitis with lingual and anal ulcers and pericarditis in a 2-year-old girl. They propose the diagnosis of Behçet's syndrome for this patient despite the absence of uveitis.