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Background: TMEM199 deficiency was recently shown in four patients to cause liver disease with steatosis, elevated serum transaminases, cholesterol and alkaline phosphatase and abnormal protein glycosylation. There is no information on the long-term outcome in this disorder. Results: We here present three novel patients with TMEM199-CDG. All three patients carried the same set of mutations (c.13-1
Nomenclatural type definitions are one of the most important concepts in biological nomenclature. Being physical objects that can be re-studied by other researchers, types permanently link taxonomy (an artificial agreement to classify biological diversity) with nomenclature (an artificial agreement to name biological diversity). Two proposals to amend the International Code of Nomenclature for alg
Heavy metals are some of the most persistent and potent anthropogenic environmental contaminants. Although heavy metals may compromise microbial communities and soil fertility, it is challenging to causally link microbial responses to heavy metals due to various confounding factors, including correlated soil physicochemistry or nutrient availability. A solution is to investigate whether tolerance
Themembers of the paired box (Pax) family regulate key developmental pathways inmanymetazoans as tissue-specific transcription factors. Vertebrate genomes typically possess nine Pax genes (Pax1–9), which are derived from four proto-Pax genes in the vertebrate ancestor that were later expanded through the so-called two-round (2R) whole-genome duplication. A recent study proposed that pax6a genes of
Bilaterian Hox genes play pivotal roles in the specification of positional identities along the anteroposterior axis. Particularly in vertebrates, their regulation is tightly coordinated by tandem arrays of genes [paralogy groups (PGs)] in four gene clusters (HoxA-D). Traditionally, the uninterrupted Hox cluster (Hox1-14) of the invertebrate chordate amphioxus was regarded as an archetype of theve
Objective: To examine Facial Emotion Recognition (FER) and visual scanning behavior (eye-tracking) during FER in women long-term recovered from teenage-onset anorexia nervosa (recAN) with and without autism spectrum disorder (±ASD) and age-matched comparison women (COMP), using a sensitive design with facial emotion expressions at varying intensities in order to approximate real social contexts. M
Objective: Additional and comorbid diagnoses are common among suicide victims with major depressive disorder (MDD) and have been shown to increase the suicide risk. The aim of the present study was first, to investigate whether patients with severe depression/melancholia who had died by suicide showed more additional psychiatric disorders than a matched control group. Second, general rates of como
The first detailed chemical abundance analysis of the M-dwarf (M4.0) exoplanet-hosting star Ross 128 is presented here, based upon near-infrared (1.5-1.7 μm), high-resolution (R ∼ 22,500) spectra from the SDSS Apache Point Galactic Evolution Experiment survey. We determined precise atmospheric parameters T eff = 3231 ±100 K, log g = 4.96 ±0.11 dex and chemical abundances of eight elements (C, O, M
The ALICE Collaboration reports the measurement of semi-inclusive distributions of charged-particle jets recoiling from a high-transverse momentum trigger hadron in p–Pb collisions at sNN=5.02 TeV. Jets are reconstructed from charged-particle tracks using the anti-kT algorithm with resolution parameter R=0.2 and 0.4. A data-driven statistical approach is used to correct the uncorrelated background
In atherogenesis, free oxygen radicals cause a lipid peroxidation of apoB100-containing lipoproteins in the blood, at the blood–endothelium-interface and in the subendothelial space. These lipoproteins easily aggregate, bind to their receptor heparan sulfate proteoglycan and calcify to arteriosclerotic nanoplaques (ternary complexes). Nanoplaque formation was measured by ellipsometry, both in vitr
Agriculture and animal production have a great environmental impact, which is steadily growing. In a previous article, we highlighted how biodiversity is vital for agricultural production, emphasizing the role of animal pollinators. Here, we discuss the different dimensions of food security and the key role of our food choices in the cities to drive land use in rural areas and minimize the environ
Governed directly by the US from the Battle of Okinawa in 1945 until its reversion to Japan in 1972, the island of Okinawa hosts the majority of US military bases in Japan despite comprising only a fraction of a percent of the total land area. The central government in Tokyo has refused to countenance revision of the status quo in the face of increasing local opposition, including mass protests an
OBJECTIVE: To investigate the impact of exercise therapy on molecular biomarkers related to cartilage and inflammation in people at risk of, or with established, knee osteoarthritis by conducting a systematic review of randomized controlled trials (RCTs).METHODS: Literature search up to September 2017 in five major databases with no restriction on publication year or language. Data were extracted
Atopic dermatitis (AD) is a clinically defined, highly pruritic, chronic inflammatory skin disease of children and adults. The diagnosis is made using evaluated clinical criteria. Disease activity is best measured with a composite score assessing both objective signs and subjective symptoms, such as SCORAD. The management of AD must consider the clinical and pathogenic variabilities of the disease
OBJECTIVE: To assess the value of arterial duplex ultrasound, which assesses the location and severity of arterial disease, in determining whether invasive vascular intervention is required.METHOD: A total of 166 consecutive diabetic patients presenting at a multidisciplinary foot clinic with severe peripheral vascular disease, with or without a foot ulcer, were included in this prospective study.
Background and purpose — The nonagenarian (those aged 90 years and older) population is expected to double in the next 20 years. This demographic age quake may have a significant impact on the incidence of total knee arthroplasty (TKA), although current literature provides limited data. We examined death and revision rates, patient-reported outcomes (PROs) and bias on patient selection of nonagena
Mental health problems among children and youth is positioned as one of the most urgent public health issues in Sweden today. Both research and official reports assert that mental health issues have increased among adolescents, especially girls, during the last decades. The aim of this study is to investigate how changes in childhood and gender discourses has implicated the construction of young p
