Search results for "NHE"
showing 10 items of 1058 documents
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
2020
Contains fulltext : 218274.pdf (Publisher’s version ) (Closed access) Genetic syndromes frequently present with overlapping clinical features and inconclusive or ambiguous genetic findings which can confound accurate diagnosis and clinical management. An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). Peripheral blood episignatures can be used for diagnostic testing as well as for the interpretation of ambiguous genetic test results. We present here an approach to episignature mapping in 42 genetic syndromes, which has allowed the identification of 34 robust disease-specific episignatures. We examine emerging pa…
Decayed, missing, and restored teeth in patients with Neurofibromatosis Type 1.
2017
Background NF1 is a relatively frequently occurring autosomal dominant inherited disease. There are conflicting reports about oral health status in NF1. The aim of this study was to analyze the dental status of patients with neurofibromatosis type 1 (NF1). Material and methods Radiographs of 179 patients with NF1 were analyzed for decayed, missing, and filled teeth (DMFT) in a cross-sectional, retrospective study. The results were compared to age- and sex-matched controls of individuals not affected by NF1. The NF1 group was differentiated for facial tumor type and localization. Results Missing teeth were more frequently registered in the NF1 group. On the other hand, decayed teeth were mor…
Unraveling the Molecular Mechanism of Action of Empagliflozin in Heart Failure With Reduced Ejection Fraction With or Without Diabetes
2019
Visual Abstract
Environmental epigenetics in zebrafish
2017
Abstract It is widely accepted that the epigenome can act as the link between environmental cues, both external and internal, to the organism and phenotype by converting the environmental stimuli to phenotypic responses through changes in gene transcription outcomes. Environmental stress endured by individual organisms can also enforce epigenetic variations in offspring that had never experienced it directly, which is termed transgenerational inheritance. To date, research in the environmental epigenetics discipline has used a wide range of both model and non-model organisms to elucidate the various epigenetic mechanisms underlying the adaptive response to environmental stimuli. In this rev…
Aplasia of the lacrimal and major salivary glands (ALSG). First case report in spanish population and review of the literature
2018
Aplasia of the lacrimal and the major salivary glands (ALSG) is a rare disorder with scarce cases described in the recent literature. The pattern of genetic inheritance is autosomal dominant with variable expressivity. A 40 years male patient was referred to the Oral and Maxillofacial Service at the Hospital Universitario de A Coruna diagnosed with complete agenesis of all salivary glands. Our case it is the first of ALSG syndrome in the Spanish literature. Imaging tests are necessary to confirm the lack of formation of salivary glands and alteration of lacrimal system. A mutation of FGF10 has been proposed as the responsible of the syndrome. The management of the lacrimal alteration depend…
Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?
2021
Inherited neuromuscular disorders (INMD) are a heterogeneous group of rare diseases that involve muscles, motor neurons, peripheral nerves or the neuromuscular junction. Several different lab abnormalities have been linked to INMD: sometimes they are typical of the disorder, but they usually appear to be less specific. Sometimes serum biomarkers can point out abnormalities in presymtomatic or otherwise asymptomatic patients (e.g., carriers). More often a biomarker of INMD is evaluated by multiple clinicians other than expert in NMD before the diagnosis, because of the multisystemic involvement in INMD. The authors performed a literature search on biomarkers in inherited neuromuscular disord…
Effects of maternal singing during kangaroo care on maternal anxiety, wellbeing, and mother-infant relationship after preterm birth: a mixed methods …
2020
Introduction: Preterm birth may disturb the typical development of the mother– infant relationship, when physical separation and emotional distress in the neonatal intensive care unit may increase maternal anxiety and create challenges for early interaction. This cluster-randomized controlled trial examined the effects of maternal singing during kangaroo care on mothers’ anxiety, wellbeing, and the early mother– infant relationship after preterm birth. Method: In the singing intervention group, a certified music therapist guided the mothers (n = 24) to sing or hum during daily kangaroo care during 33–40 gestational weeks (GW). In the control group, the mothers (n = 12) conducted daily kanga…
‘Celebrating diverse motherhood’: physically disabled women’s counter-narratives to their stigmatised identity as mothers
2018
This study examined how disabled women negotiated their stigmatised identity as mothers by presenting counter-narratives to the culturally dominant narrative of disabled motherhood. Eleven Finnish physically disabled mothers were interviewed. The data were analysed by focusing on these counter-narratives, their linguistic features and their functions in the interviews. The disabled mothers produced four types of counter-narratives about their motherhood experiences: (1) celebrating diverse motherhood through individual coping; (2) performing motherhood through collaborative caring; (3) boosting motherhood through praising one’s children; and (4) normalising (disabled women’s) motherhood thr…
Getting into the Same Boat – Enabling the Realization of the Disabled Child’s Agency in Adult–Child Play Interaction
2021
The purpose of this study was to find out how an adult can enable or hinder the realization of a disabled child’s agency in play interaction. We focused on the child’s play invitations, which were constructed as dispreferred by the adult. The data consisted of nine videotaped playing situations with five nurses and five disabled children in a children’s neurological ward. The microanalysis with interventionist applied conversation analysis focused on one playing situation between one nurse and one three-year-old boy with no spoken language. The nurse responded to the child’s play invitations constructed as dispreferred by her in three different ways. Two of them were about trying to control…