Search results for " loss"
showing 10 items of 1342 documents
Pathogenesis of antiphospholipid syndrome: recent insights and emerging concepts
2018
Introduction: Even though our understanding of the antiphospholipid syndrome (APS) has improved tremendously over the last decades, we are still not in a position to replace symptomatic anticoagulation by pathogenesis based causal treatments. Areas covered: Recent years have provided further insights into pathogenetically relevant mechanisms. These include a differentiation of pathogenic subtypes of antiphospholipid antibodies (aPL), novel mechanisms modulating disease activity, for example, extracellular vesicles and microRNA, and novel players in pathogenesis, for example, neutrophils and neutrophil extracellular traps (NETs). Expert commentary: It is evident that aPL induce a proinflamma…
Large Blooms of Bacillales (Firmicutes) Underlie the Response to Wetting of Cyanobacterial Biocrusts at Various Stages of Maturity.
2018
ABSTRACT Biological soil crusts (biocrusts) account for a substantial portion of primary production in dryland ecosystems. They successionally mature to deliver a suite of ecosystem services, such as carbon sequestration, water retention and nutrient cycling, and climate regulation. Biocrust assemblages are extremely well adapted to survive desiccation and to rapidly take advantage of the periodic precipitation events typical of arid ecosystems. Here we focus on the wetting response of incipient cyanobacterial crusts as they mature from “light” to “dark.” We sampled a cyanobacterial biocrust chronosequence before (dry) and temporally following a controlled wetting event and used high-throug…
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice
2020
A cohort of 128 patients from 118 families diagnosed with non-syndromic or syndromic hearing loss (HL) underwent an exhaustive clinical evaluation. Molecular analysis was performed using targeted next-generation sequencing (NGS) with a custom panel that included 59 genes associated with non-syndromic HL or syndromic HL. Variants were prioritized according to the minimum allele frequency and classified according to the American College of Medical Genetics and Genomics guidelines. Variant(s) responsible for the disease were detected in a 40% of families including autosomal recessive (AR), autosomal dominant (AD) and X-linked patterns of inheritance. We identified pathogenic or likely pathogen…
Usefulness of current candidate genetic markers to identify childhood cancer patients at risk for platinum-induced ototoxicity: Results of the Europe…
2020
Background Irreversible sensorineural hearing loss is a common side effect of platinum treatment with the potential to significantly impair the neurocognitive, social and educational development of childhood cancer survivors. Genetic association studies suggest a genetic predisposition for cisplatin-induced ototoxicity. Among other candidate genes, thiopurine methyltransferase (TPMT) is considered a critical gene for susceptibility to cisplatin-induced hearing loss in the FDA drug label and a pharmacogenetic guideline. The aim of this cross-sectional cohort study was to confirm the genetic associations in a large pan-European population and to evaluate the diagnostic accuracy of the genetic…
Substantial fat mass loss reduces low-grade inflammation and induces positive alteration in cardiometabolic factors in normal-weight individuals
2019
AbstractThe accumulation of fat, especially in visceral sites, is a significant risk factor for several chronic diseases with altered cardiometabolic homeostasis. We studied how intensive long-term weight loss and subsequent weight regain affect physiological changes, by longitudinally interrogating the lipid metabolism and white blood cell transcriptomic markers in healthy, normal-weight individuals. The current study examined 42 healthy, young (age: 27.5 ± 4.0 years), normal-weight (body mass index, BMI: 23.4 ± 1.7 kg/m2) female athletes, of which 25 belong to the weight loss and regain group (diet group), and 17 to the control group. Participants were evaluated, and fasting blood samples…
EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.
2018
EAST (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy) or SeSAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance) syndrome is a rare autosomal recessive syndrome first described in 2009 independently by Bockenhauer and Scholl. It is caused by mutations in KCNJ10, which encodes Kir4.1, an inwardly rectifying K+ channel found in the brain, inner ear, kidney and eye. To date, 16 mutations and at least 28 patients have been reported. In this paper, we review mutations causing EAST/SeSAME syndrome, clinical manifestations in detail, and efficacy of treatment in previously reported patients. We also report a new Latvian kindred with 4 patients. In co…
Prenatal Air Pollution and Reduced Birth Weight: Decline in Placental Mitochondria as a Potential Mechanism.
2016
Strong epidemiological evidence links prenatal exposure to ambient air pollution and outcomes including low birth weight, intrauterine growth restriction, and preterm birth.1,2 A new study finds evidence that the association between prenatal air pollution exposure and reduced birth weight may be mediated in part by a decline in the mitochondrial content of the placenta.3 During pregnancy, the placenta supports the nourishment, growth, and development of the fetus, and mitochondria within the cells of the placenta are essential to these processes.4 Mitochondria, the cellular organelles that regulate energy production, are easily damaged by reactive oxygen species generated by oxidative stres…
Dental status, salivary flow, and sociodemographic aspects in Sheehan Syndrome patients
2018
Background Sheehan’s syndrome (SS) is one of the leading causes of hypopituitarism in developing countries. It occurs after postpartum necrosis of the pituitary gland, and it is considered a significant public health problem. This paper, apparently unpublished, aimed to perform an analysis on oral aspects in patients with SS. Material and Methods A cross-sectional study was performed with 23 women diagnosed with SS at the Division of Endocrinology and Diabetes (Walter Cantídio University Hospital, Fortaleza, Brazil). Results Data on sociodemographic, dental and salivary flow aspects were collected through a clinical approach and a panoramic radiograph request. The mean age was 64 ± 11.5 yea…
Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.
2016
Objective PDZD7 was identified in 2009 in a family with apparent nonsyndromic sensorineural hearing loss. However, subsequent clinical reports have associated PDZD7 with digenic Usher syndrome, the most common cause of deaf-blindness, or as a modifier of retinal disease. No further reports have validated this gene for nonsyndromic hearing loss, intuitively calling correct genotype-phenotype association into question. This report describes a validating second case for biallelic mutations in PDZD7 causing nonsyndromic mild to severe sensorineural hearing loss. It also provides detailed audiometric and ophthalmologic data excluding Usher syndrome in both the present proband (proband 1) and the…
Anti-erosive effect of calcium carbonate suspensions
2018
Background This study aimed to investigate the ability of different concentrations of calcium carbonate (CaCO3) suspensions to control enamel surface loss. Material and methods Seventy-five enamel slabs were embedded, ground and polished in a pneumatic grinder-polisher machine. Reference areas were created with UPVC tape and the specimens were randomly allocated into five groups (n = 15) for exposure to hydrochloric acid solution to simulate gastric juice (0.01 M, pH 2) for 2 minutes. The samples were then exposed to suspensions containing 0.0001, 0.001, 0.01 or 0.1 mmol/L CaCO3 for 1 minute. Artificial saliva was used as control. The samples were subjected to a total of five erosive cycles…