Search results for "Rett Syndrome"
showing 10 items of 15 documents
Orthodontc managment in a special patient: a case report with Rett syndrome.
2021
Efficacy of levetiracetam in the treatment of drug-resistant Rett Syndrome.
2010
Rett syndrome (RTT) is a progressive neurological disorder characterized by a wide spectrum of phenotypes. Epilepsy is reported to occur in 50–90% of patients with RTT; some develop medically refractory epilepsy. The aim of this study is to investigate the efficacy of levetiracetam (LEV) in drug-resistant patients with RTT. This prospective, pragmatic, open-label study consisted of an 8-week baseline period and a 6-month evaluation period. Efficacy variable was the mean frequency of monthly seizures before, and after 3 and 6 months of treatment with LEV. Eight female patients, aged 7.5–19 years (M12.8 ± 5) entered the study. Mean age at epilepsy onset was 25.8 ± 14.1 months. All patients sh…
INTRODUZIONE
2010
Oral health in a group of patients with Rett syndrome in the regions of Valencia and Murcia (Spain): A case-control study
2014
Objectives: Rett syndrome (RS) is a rare disease with oral manifestations that have not been described in detail or in a standardized manner in the literature. The present study describes the oral health of the population with RS in two Spanish regions, following the protocol of the World Health Organization for conducting common oral health surveys. Study Design: A prospective, observational case-control study was carried out, involving a group of patients with RS (n1=41) and a mean age of 13.37±3.19 years, and an age- and gender-matched control group without RS (n0=82). The data referred to oral health and habits were recorded by means of a questionnaire and oral examination was used to d…
Rett‐like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5 ‐related disease
2016
Several genes have been implicated in Rett syndrome (RTT) in its typical and variant forms. We applied next-generation sequencing (NGS) to evaluate for mutations in known or new candidate genes in patients with variant forms of Rett or Rett-like phenotypes of unknown molecular aetiology. In the first step, we used NGS with a custom panel including MECP2, CDKL5, FOXG1, MEF2C and IQSEC2. In addition to a FOXG1 mutation in a patient with all core features of the congenital variant of RTT, we identified a missense (p.Ser240Thr) in CDKL5 in a patient who appeared to be seizure free. This missense was maternally inherited with opposite allele expression ratios in the proband and her mother. In th…
Epigenetic Mechanisms as Key Regulators in Disease
2016
Epigenetics is a rapidly growing field of research which studies the changes in the gene expression that do not involve changes in the nucleotide sequence. The cellular metabolism is directly connected to epigenetic regulation through the inflow of different metabolites such as S-adenosylmethionine, acetyl-CoA, and α-ketoglutarate among others, which serve as substrates or cofactors for chromatin-modifying enzymes. These metabolites define how our lifestyle (i.e., nutrition, physical activity, and other healthy behaviors) acts on gene expression by epigenetic mechanisms. Therefore, proper coordination between components of the epigenetic machineries is essential for the correct control of t…
MeCP2 haplodeficiency and early-life stress interaction on anxiety-like behavior in adolescent female mice
2021
Abstract Background Early-life stress can leave persistent epigenetic marks that may modulate vulnerability to psychiatric conditions later in life, including anxiety, depression and stress-related disorders. These are complex disorders with both environmental and genetic influences contributing to their etiology. Methyl-CpG Binding Protein 2 (MeCP2) has been attributed a key role in the control of neuronal activity-dependent gene expression and is a master regulator of experience-dependent epigenetic programming. Moreover, mutations in the MECP2 gene are the primary cause of Rett syndrome and, to a lesser extent, of a range of other major neurodevelopmental disorders. Here, we aim to study…
Oral findings in Rett syndrome : a systematic review of the dental literature
2010
Rett syndrome (RS) is a chromosome X-linked genetic neurological disorder characterized by developmental regression, particularly in relation to expressive language and use of the hands, together with profound mental retardation, that almost exclusively affects females. The present review describes the 35 cases of RS Publisher in the indexed literature (Medline) ? the first corresponding to 1985 and the last to the year 2007. Certain oral manifestations of the disease are derived from the drug treatment prescribed to control the disease, while others are common to other clinical conditions characterized by convulsion activity, difficulties for correct oral hygiene, walking problems and/or a…
Impact of rare diseases in oral health
2016
Background Rare diseases (RD) are those that present a lower prevalence than 5 cases per 10.000 population. The main objective of this review was to study the effect on oral health in rare diseases, while the secondary objective of the study is theme upgrade. Material and Methods Comparative observational case-control studies were analysed and a systematic review was conducted in PubMed. Each rare disease listed on the statistical data record of the Health Portal of the Ministry of Equality, Health and Social Policies Board of Andalusia was associated with “oral health”. The variables studied included dental, oral mucosa and occlusion alterations, oral pathologies (caries, periodontal disea…