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        Biospecimen Service

        Contact Us Why choose BioSpecs? Since our inception in May 2020, BioSpecs has numerous agreements in place with an array of research teams from ...

        Research

        The Lived Experience of Parents’ Receiving the Diagnosis of CDKL5 Deficiency Disorder for Their Child

        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. ...

        Research

        Influences on the trajectory and subsequent outcomes in CDKL5 deficiency disorder

        The study investigated the effect of seizure and medication burden at initial contact with the International CDKL5 Disorder Database on subsequent development and clinical severity and compared quality of life among those whose development progressed, remained stable, or regressed between baseline and follow-up. ...

        Research

        Comparison of group A streptococcal titres in healthy children and those with pharyngitis and skin infections

        Rates of acute rheumatic fever, a sequelae of group A Streptococcal (GAS) infection, remain unacceptably high in Indigenous Māori and Pacific children in New Zealand. This prospective study aimed to describe GAS antibody titres in healthy children (5–14 years) by ethnicity, and to determine how paired titres vary with GAS culture positive and negative pharyngitis, and GAS skin infections. ...

        Research

        Viral Induced Effects on a Vulnerable Epithelium; Lessons Learned From Paediatric Asthma and Eosinophilic Oesophagitis

        The epithelium is integral to the protection of many different biological systems and for the maintenance of biochemical homeostasis. Emerging evidence suggests that particular children have epithelial vulnerabilities leading to dysregulated barrier function and integrity, that resultantly contributes to disease pathogenesis. ...

        Research

        Application of Inertial Measurement Units and Machine Learning Classification in Cerebral Palsy: Randomized Controlled Trial

        Cerebral palsy (CP) is a physical disability that affects movement and posture. Approximately 17 million people worldwide and 34,000 people in Australia are living with CP. In clinical and kinematic research, goniometers and inclinometers are the most commonly used clinical tools to measure joint angles and positions in children with CP. ...

        Research

        Prescribing in a pediatric hospital setting – Lost in translation?

        To determine parental understanding of directions on common pediatric prescription pharmacy labels and to identify enablers and barriers that affect interpretation of these labels. ...

        Research

        Respiratory follow-up to improve outcomes for Aboriginal children: twelve key steps

        Among Aboriginal children, the burden of acute respiratory tract infections (ALRIs) with consequent bronchiectasis post-hospitalisation is high. Clinical practice guidelines recommend medical follow-up one-month following discharge, which provides an opportunity to screen and manage persistent symptoms and may prevent bronchiectasis. ...

        Research

        The FASTK family proteins fine-tune mitochondrial RNA processing

        Transcription of the human mitochondrial genome and correct processing of the two long polycistronic transcripts are crucial for oxidative phosphorylation. According to the tRNA punctuation model, nucleolytic processing of these large precursor transcripts occurs mainly through the excision of the tRNAs that flank most rRNAs and mRNAs. ...

        Research

        Epidemiology of Rare Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage Study

        We aimed to describe birth prevalence of rare craniofacial anomalies and associations with antenatal and perinatal factors. 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). ...

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