A Novel Heterozygous Deletion Variant in Gene Leading to Haploinsufficiency and Impairment of Fibroblast Growth Factor 23 Signaling Pathway.

Hyperphosphatemia is commonly present in end-stage renal disease. Klotho (KL) is implicated in phosphate homeostasis since it acts as obligate co-receptor for the fibroblast growth factor 23 (FGF23), a major phosphaturic hormone. We hypothesized that genetic variation in the KL gene might be associated with alterations in phosphate homeostasis resulting in hyperphosphatemia.

Understanding the foot's functional anatomy in physiological and pathological conditions: the calcaneopedal unit concept.

Background: A thorough review of the available orthopaedic literature shows significant controversies, inconsistencies and sparse data regarding the terminology used to describe foot deformities. This lack of consensus on terminology creates confusion in professional discussions of foot anatomy, pathoanatomy and treatment of deformities. The controversies apply to joint movements as well as static relationships between the bones.

Left ventricular and proximal aorta coupling in magnetic resonance imaging: aging together?

The importance of aorta-ventricular coupling in cardiovascular disease is recognized but underestimated. The contribution of the age-related decline in ascending aortic function compared with characteristic impedance and total peripheral resistance on left ventricular function and remodeling is poorly studied. Our aim was to evaluate the relation of proximal aortic distensibility and impedance with left ventricular geometry and function in asymptomatic individuals.

Novel insights into parathyroid hormone: report of The Parathyroid Day in Chronic Kidney Disease.

Chronic kidney disease (CKD) is often associated with a mineral and bone disorder globally described as CKD-Mineral and Bone Disease (MBD), including renal osteodystrophy, the latter ranging from high bone turnover, as in case of secondary hyperparathyroidism (SHPT), to low bone turnover. The present article summarizes the important subjects that were covered during 'The Parathyroid Day in Chronic Kidney Disease' CME course organized in Paris in September 2017. It includes the latest insights on parathyroid gland growth, parathyroid hormone (PTH) synthesis, secretion and regulation by the calcium-sensing receptor, vitamin D receptor and fibroblast growth factor 23 (FGF23)-Klotho axis, as well as on parathyroid glands imaging.

Pap tests for cervical cancer screening test and contraception: analysis of data from the CONSTANCES cohort study.

Background: In France, a Pap test for cervical cancer screening is recommended every three years for all sexually active women aged 25 to 65 years. Modes of contraception (any or no contraception, with or without a visit to a physician, and with or without a gynecological examination) may influence adhesion to screening: women who use intrauterine device (IUD) should be more up to date with their cervical cancer screening more often than those using other means of contraception. Our objectives were to analyze the association between modes of contraception and Pap tests for screening.

Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions in ARID1B mutations with Coffin-Siris syndrome.

ARID1B mutations in Coffin-Siris syndrome are a cause of intellectual disability (0.5-1%), with various degrees of autism and agenesis of the corpus callosum (10%). Little is known regarding the cognitive and motor consequences of ARID1B mutations in humans and no link has been made between corpus callosum anomalies and visuospatial and neuromotor dysfunctions.

Role of Natural Products in Modulating Histone Deacetylases in Cancer.

Histone deacetylases (HDACs) are enzymes that can control transcription by modifying chromatin conformation, molecular interactions between the DNA and the proteins as well as the histone tail, through the catalysis of the acetyl functional sites removal of proteins from the lysine residues. Also, HDACs have been implicated in the post transcriptional process through the regulation of the proteins acetylation, and it has been found that HDAC inhibitors (HDACi) constitute a promising class of pharmacological drugs to treat various chronic diseases, including cancer. Indeed, it has been demonstrated that in several cancers, elevated HDAC enzyme activities may be associated with aberrant proliferation, survival and metastasis.

Dental and periodontal health in adults with eating disorders: A case-control study.

Objectives: This study evaluates dental and periodontal health in anorexia nervosa and bulimia nervosa patients.

Methods: Seventy females with eating disorders (36 anorexia nervosa) attending a public hospital Psychiatry and Addiction unit were compared with age-matched controls (n = 70). Full-mouth examination and oral hygiene behaviours were recorded for all participants.

Insertion of a preloaded Monoka™ stent for congenital nasolacrimal obstruction: Intraoperative observations. A preliminary study.

Study Objective: To study the intraoperative deployment of a pre-loaded probe for a "pushed" monocanalicular nasolacrimal intubation.

Study Design: Non-randomized study of consecutive cases.

Materials And Methods: Description: A classical Monoka™ silicone stent with the silicone tube attached at right angles to the punctal plug is contained entirely inside an introducer connected to a piston.

One-year safety and efficacy of intravenous etelcalcetide in patients on hemodialysis with secondary hyperparathyroidism.

Background: Secondary hyperparathyroidism (sHPT), a common complication of chronic kidney disease, is characterized by elevated serum parathyroid hormone (PTH). Etelcalcetide is an intravenous calcimimetic that increases sensitivity of the calcium-sensing receptor to calcium and decreases PTH secretion. This open-label extension (OLE) trial evaluated the long-term effects of etelcalcetide for sHPT treatment in patients receiving hemodialysis.

Hypertrophic Obstructive Cardiomyopathy.

Background: Hypertrophic cardiomyopathy (HCM) is caused by mutations in a number of genes. Its prevalence is 0.2% to 0.

RNA-Based Therapy Utilizing Oculopharyngeal Muscular Dystrophy Transcript Knockdown and Replacement.

Oculopharyngeal muscular dystrophy (OPMD) is caused by a small expansion of a short polyalanine (polyAla) tract in the poly(A)-binding protein nuclear 1 protein (PABPN1). Despite the monogenic nature of OPMD, no treatment is currently available. Here we report an RNA replacement strategy that has therapeutic potential in cell and C.

Long-term Outcome of Hirschsprung Disease: Impact on Quality of Life and Social Condition at Adult Age.

Background: Hirschsprung disease is a rare congenital disease typically requiring surgical treatment during childhood. Quality of life and social condition at adult age can be impaired by disease-specific sequelae.

Objective: This study aimed to assess the quality of life and social outcome of adult patients operated on for Hirschsprung disease during childhood.

Osteoporosis, bone mineral density and CKD-MBD (II): Therapeutic implications.

Osteoporosis (OP) and chronic kidney disease (CKD) both independently affect bone health. A significant number of patients with CKD have decreased bone mineral density (BMD), are at high risk of fragility fractures and have an increased morbidity and mortality risk. With an ageing population, these observations are not only dependent on "renal osteodystrophy" but also on the associated OP.

Estimation of the costs attributable to vitamin K antagonist treatment in patients with non-valvular atrial fibrillation from a French societal perspective.

: Little is known about the costs associated with vitamin K antagonist (VKA) treatment in patients with non-valvular atrial fibrillation (NVAF) in France. : To evaluate monthly per-patient costs attributable to VKA treatment in NVAF patients from a French societal perspective. : Retrospective data were obtained from 7 international normalised ratio (INR) monitoring centres in France.

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts.

Background: Enzyme replacement therapy (ERT) with recombinant human α-galactosidase has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the USA. Treatment outcomes with ERT are dependent on baseline patient characteristics, and published data are derived from heterogeneous study populations.

Methods: We conducted a comprehensive systematic literature review of all original articles on ERT in the treatment of Fabry disease published up until January 2017.

Head to Knee: Cranial Neural Crest-Derived Cells as Promising Candidates for Human Cartilage Repair.

A large array of therapeutic procedures is available to treat cartilage disorders caused by trauma or inflammatory disease. Most are invasive and may result in treatment failure or development of osteoarthritis due to extensive cartilage damage from repeated surgery. Despite encouraging results of early cell therapy trials that used chondrocytes collected during arthroscopic surgery, these approaches have serious disadvantages, including morbidity associated with cell harvesting and low predictive clinical outcomes.

A Retrospective Evaluation of Allometry, Population Pharmacokinetics, and Physiologically-Based Pharmacokinetics for Pediatric Dosing Using Clearance as a Surrogate.

Physiologically-based pharmacokinetic models are increasingly applied for pediatric dose selection along with traditional methods such as allometry and population pharmacokinetic models. We report a retrospective evaluation of the three methods. Pediatric population pharmacokinetic models sourced from literature for a subset of eight compounds were used to predict clearances for children < 2 years when they were within the modeled age range (interpolation, N = 11) or including those outside the modeled age range (interpolation and extrapolation, N = 18).

Monitoring quality of obstetric care from hospital discharge databases: A Delphi survey to propose a new set of indicators based on maternal health outcomes.

Objectives: Most indicators proposed for assessing quality of care in obstetrics are process indicators and do not directly measure health effects, and cannot always be identified from routinely available databases. Our objective was to propose a set of indicators to assess the quality of hospital obstetric care from maternal morbidity outcomes identifiable in permanent hospital discharge databases.

Methods: Various maternal morbidity outcomes potentially reflecting quality of obstetric care were first selected from a systematic literature review.

Cystathionine as a marker for 1p/19q codeleted gliomas by in vivo magnetic resonance spectroscopy.

Background: Codeletion of chromosome arms 1p and 19q (1p/19q codeletion) highly benefits diagnosis and prognosis in gliomas. In this study, we investigated the effect of 1p/19q codeletion on cancer cell metabolism and evaluated possible metabolic targets for tailored therapies.

Methods: We combined in vivo 1H (proton) magnetic resonance spectroscopy (MRS) measurements in human gliomas with the analysis of a series of standard amino acids by liquid chromatography-mass spectroscopy (LC-MS) in human glioma biopsies.

Determinants of the interindividual variability in serum cytidine deaminase activity of patients with solid tumours.

Aims: Cytidine deaminase (CDA) activity in cancer patients' serum has been proposed as a predictive biomarker for efficacy and toxicity of nucleoside analogues. However, discrepant results about its predictive value have been reported due to the high interindividual variability in CDA activity. This study aimed at identifying determinants of this interindividual variability.

Classification, categorization and essential items for digital ulcer evaluation in systemic sclerosis: a DeSScipher/European Scleroderma Trials and Research group (EUSTAR) survey.

Background: A consensus on digital ulcer (DU) definition in systemic sclerosis (SSc) has been recently reached (Suliman et al., J Scleroderma Relat Disord 2:115-20, 2017), while for their evaluation, classification and categorisation, it is still missing. The aims of this study were to identify a set of essential items for digital ulcer (DU) evaluation, to assess if the existing DU classification was useful and feasible in clinical practice and to investigate if the new categorisation was preferred to the simple distinction of DU in recurrent and not recurrent, in patients with systemic sclerosis (SSc).

Zika Virus Infection RIG-ged by Keratinocytes and Fibroblasts.

Zika virus is an emergent virus targeting the skin. Ji-Ae et al. (2018) explore the interactions between Zika virus and skin cells.

BAP1 complex promotes transcription by opposing PRC1-mediated H2A ubiquitylation.

In Drosophila, a complex consisting of Calypso and ASX catalyzes H2A deubiquitination and has been reported to act as part of the Polycomb machinery in transcriptional silencing. The mammalian homologs of these proteins (BAP1 and ASXL1/2/3, respectively), are frequently mutated in various cancer types, yet their precise functions remain unclear. Using an integrative approach based on isogenic cell lines generated with CRISPR/Cas9, we uncover an unanticipated role for BAP1 in gene activation.