Background: Information on the hospital service use among individuals with CDKL5 Deficiency Disorder, an ultrarare developmental epileptic encephalopathy, is limited, evidence of which could assist with service planning. Therefore, using baseline and longitudinal data on 379 genetically verified individuals in the International CDKL5 Disorder Database, we aimed to investigate rates of seizure-related and other hospitalizations and associated length of stay in this cohort.
Methods: Outcome variables were lifetime count of family-reported hospitalizations and average length of stay both for seizure- (management and/or investigative) and non-seizure-related causes.
Background And Objective: CDKL5 deficiency disorder presents as a challenging condition with early-onset refractory seizures, severe developmental delays, and a range of other neurological symptoms. Our study aimed to explore the benefits and side effects of anti-seizure medications (ASMs) in managing seizures among individuals with CDKL5 deficiency disorder, drawing on data from the International CDKL5 Disorder Database.
Methods: Data for this retrospective cohort study were obtained from the International CDKL5 Disorder Database, which contains responses from a baseline questionnaire administered between 2012 and 2022 and a follow-up questionnaire administered between 2018 and 2019.
Aim: To compare growth in individuals with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of gastrostomy on growth.
Method: The longitudinal study included 353 individuals from the International CDKL5 Disorder Database with any anthropometric measurement in baseline and/or follow-up questionnaires. The British 1990 growth reference was used to determine the age- and sex-standardized z-score.
Objective: To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies (CFAs).
Methods: Data on livebirths (1983-2010; n = 721 019) including rare CFA (craniofacial microsomia, mandibulofacial dysostosis, Pierre Robin sequence, Van der Woude syndrome, and frontonasal dysplasia), episodes of death, and demographic and perinatal factors were identified from the Western Australian Register of Developmental Anomalies, Death Registrations and Midwives Notification System. Information on incident craniofacial and noncraniofacial related admissions, length of hospital stay, and intensive care and emergency-related admissions were identified using principal diagnosis and procedural codes were extracted from the Hospital Morbidity Data Collection and linked to other data sources.
Understanding hospital service use among children with a diagnosis of craniosynostosis (CS) is important to improve services and outcomes. This study aimed to describe population-level trends, patterns, and factors influencing hospitalizations for craniosynostosis in Western Australia. Data on live births (1990-2010; n = 554,624) including craniosynostosis, episodes of death, demographic, and perinatal factors were identified from the midwives, birth defects, hospitalizations, and death datasets.
View Article and Find Full Text PDFThis study investigated the influence of factors at birth and in infancy on the likelihood of achieving major motor milestones in CDKL5 Deficiency Disorder (CDD). Data on 350 individuals with a pathogenic CDKL5 variant was sourced from the International CDKL5 Disorder Database. A first model included factors available at birth (e.
View Article and Find Full Text PDFBackground: In recent decades stress has emerged as a variable of significant interest in the examination of oral health.
Objective: To study the association between parental stress and early childhood caries experience among 3-5 years old children.
Methods: A cross-sectional study was conducted among 342 randomly selected mother-child dyads in Maduravoyal, Chennai.
Background: Accurate knowledge of the relationship between craniofacial anomalies (CFA), intellectual disability (ID) and autism spectrum disorder (ASD) is essential to improve services and outcomes. The aim is to describe the association between CFA, ID and ASD using linked population data.
Methods: All births (1983-2005; n = 566,225) including CFA births (comprising orofacial clefts, craniosynostosis, craniofacial microsomia and mandibulofacial dysostosis) surviving to 5 years were identified from the birth, death, birth defects and midwives population data sets.
CDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy, is being diagnosed earlier with improved access to genetic testing, but this may also have unanticipated impacts on parents' experience receiving the diagnosis. This study explores the lived experience of parents receiving a diagnosis of CDD for their child using mixed methods. Thirty-seven semistructured interviews were conducted with parents of children with a diagnosis of CDD, which were coded and analyzed to identify themes.
View Article and Find Full Text PDFTo describe trends, age, and sex-specific patterns of population hospital admissions with a diagnosis of craniosynostosis (CS) in Australia. Population data for hospital separations (in-patient) from public and private hospitals (July 1996-June 2018) were obtained from the publicly available Australian Institute of Health and Welfare (AIHW) National Hospital Morbidity Database. The outcome variables were hospital separation rates (HSR) (number of hospital separations divided by the estimated resident population [ERP] per year) and average length of stay (aLOS) (patient days divided by the number of hospital separations) with a diagnosis of CS.
View Article and Find Full Text PDFObjective: To identify Helicobacter pylori (H. pylori) and related oncogenic and virulent proteins (CagA and VacA) in patients with gingivitis, periodontitis, oral cancer and gastric cancer.
Methods: Subgingival plaque samples were collected from 90 individuals with either gingivitis/periodontitis (group A, n = 30), oral cancer (group B, n = 30) and gastric cancer (group C, n = 30).
Introduction: Due to the increasing prevalence of periodontitis within the general population, it is important to study the progress and stages of periodontal disease and the efficacy of periodontal treatment through and experiments. Mouse periodontitis models are important in many studies. This study presents the findings from a scoping review of the current literature regarding the available method to produce mouse periodontitis models using whole bacteria.
View Article and Find Full Text PDFObjective: To describe birth prevalence of rare craniofacial anomalies and associations with antenatal and perinatal factors.
Study Design: All live and stillbirths in Western Australia between 1980 and 2010 were identified from the Western Australian Birth Registrations and the Midwives Notification System (also provides information on antenatal and perinatal factors). Rare craniofacial anomalies (craniosynostosis, craniofacial microsomia, and others [Pierre Robin, Van der Woude, and Treacher Collins syndrome]) were ascertained from the Western Australian Register of Developmental Anomalies and linked to other data sources.
Cleft Palate Craniofac J
September 2022
Objective: To describe patterns and demographic characteristics of total-population hospital admissions with a diagnosis of Treacher Collins syndrome (TCS) in Australia.
Data Source: Population summary data for inpatient hospitals admissions (public and private) with a principal diagnosis of TCS (ICD10-AM-Q87.04) were obtained from the Australian Institute of Health and Welfare National Hospital Morbidity Database for a 11-year period (2002-2013).
Objective: The objective of the study is to determine the association between nonsyndromic oral clefts (OC) in children and ABO, Rh blood groups, lip, and dermatoglyphic patterns of their unaffected parents.
Methods: This case-control study was conducted at a tertiary cleft center in Chennai, India, among 240 individuals comprising 80 units (40 cases and controls, respectively). Each unit (triad) was constituted by a child (0-12 years of age) either born with nonsyndromic OC (cases) or with no diagnosed congenital anomaly (control) and their unaffected parents (mother and father).
Over the last couple of decades, the advancement in Microelectromechanical System (MEMS) devices is highly demanded for integrating the economically miniaturized sensors with fabricating technology. A sensor is a system that detects and responds to multiple physical inputs and converting them into analogue or digital forms. The sensor transforms these variations into a form which can be utilized as a marker to monitor the device variable.
View Article and Find Full Text PDFBackground: CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems.
View Article and Find Full Text PDFObjective: To assess the dental caries experience, clinical consequences of untreated dental caries, and associated factors among 6-13 years school going children in Tiruvallur taluk of Tiruvallur district, Tamil Nadu.
Materials And Methods: The study population included a sample of 1,060 study subjects, aged 6-13 years from both government and private schools. The subjects were interviewed regarding oral hygiene practices, diet, dental visits, body mass index, income of the parents using a closed-ended questionnaire.
Background: The neuronal ceroid lipofuscinosis 2 (NCL2) or classic late-infantile neuronal ceroid lipofuscinosis (LINCL) is a neurogenetic disorder caused by mutations in the TPPI gene, which codes for the lysosomal tripeptidyl peptidase 1 (TPPI) EC 3.4.14.
View Article and Find Full Text PDFPurpose: The purpose of this study was to assess the efficacy of mouthwash containing essential oils and curcumin (MEC) as an adjunct to nonsurgical periodontal therapy on the disease activity of rheumatoid arthritis (RA) among RA patients with chronic periodontitis (CP).
Materials And Methods: A triple-blinded controlled trial was conducted among 45 female RA patients with CP randomized into three treatment groups as follows: Group A: scaling and root planing (SRP) with 0.2% chlorhexidine mouthwash as an adjunct (n = 15), Group B: SRP with MEC as an adjunct (n = 15), and Group C: SRP alone (n = 15).
Zinc stannate (Zn SnO ) and Zn SnO codoped with Eu and Ca (ZTO:Eu,Ca) were synthesized by hydrothermal method and characterized with X-ray diffraction (XRD), energy-dispersive X-ray analysis (EDAX), Raman spectrometer, field emission scanning electron microscopy (FESEM), ultraviolet-visible (UV-vis) and photoluminescence (PL) spectrophotometers. PL analysis of Zn SnO gives broad defect induced emission in the region 500-750 nm. The crystal structure of Zn SnO was retained even with a nominal doping of Eu, Ca and its combination in the Zn SnO .
View Article and Find Full Text PDF