A5067465179- Metabolism and Genetic Disorders
- Neonatal Health and Biochemistry
- Biochemical and Molecular Research
- Cytomegalovirus and herpesvirus research
- Thyroid Disorders and Treatments
- Sexual Differentiation and Disorders
- Neonatal Respiratory Health Research
- Adenosine and Purinergic Signaling
- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
- Folate and B Vitamins Research
- Blood groups and transfusion
- Diet and metabolism studies
- Prenatal Screening and Diagnostics
- Cystic Fibrosis Research Advances
- Neuroscience of respiration and sleep
- Blood disorders and treatments
- Hormonal and reproductive studies
- Immunodeficiency and Autoimmune Disorders
- Congenital heart defects research
- HIV/AIDS drug development and treatment
- Porphyrin Metabolism and Disorders
- Congenital Heart Disease Studies
- Ethics in Clinical Research
- Gout, Hyperuricemia, Uric Acid
University of Auckland
1984-2025
Office of Naval Research
2024
Auckland City Hospital
2012-2024
Groote Schuur Hospital
2024
Auckland District Health Board
2010-2023
Newfoundland and Labrador Centre for Applied Health Research
2018
Ministry of Health
2014
Hospital Clínico Universitario de Valladolid
2010
Memorial Medical Center
2009
Greenlane Clinical Centre
1991-2008
Recent reports suggest that the incidence of congenital hypothyroidism (CHT) is increasing in some countries. The etiology this change unclear, and it may relate to changes screening thresholds. We aimed determine whether CHT New Zealand has changed ethnic-specific rates subtypes have also changed.The neonatal TSH-based program prospectively identified cases using same assay thresholds since 1993. Thyroid scintiscans are routinely recommended. retrospectively all requiring levothyroxine...
We investigated the feasibility and diagnostic utility of genotyping 9 CYP21 mutations, linked chromosome 6p markers, a dimorphic X-Y marker from neonatal screening samples. Blood-impregnated filter papers (Guthrie cards) 603 randomly chosen New Zealand neonates were genotyped blind to 17-hydroxyprogesterone (17-OHP) levels. Another 50 samples Swiss North American infants with correlative hormonal data also genotyped. DNA was extracted, gene-specific PCR performed. products subjected ligase...
Despite newborn screening and early levothyroxine replacement, there are continued reports of mild neurocognitive impairment in children with congenital hypothyroidism (CHT). In Auckland, New Zealand, cases identified by a neonatal program rapid institution high-dose replacement (10–15 μg/kg·d), producing prompt normalization thyroid function. Subsequently, frequent monitoring dose alterations performed for 2 years. We aimed to assess whether the Auckland treatment strategy prevents...
The objective of the study was to evaluate efficacy national newborn screening for severe congenital adrenal hyperplasia (CAH) in New Zealand over past 20 years.Newborn CAH is performed through estimation 17-hydroxyprogesterone by a Delfia immunoassay. cases diagnosed period from 1994 2013 were identified Newborn Metabolic Screening Programme records.Between and 2013, 44 neonates (28 females, 16 males) with CAH, giving an incidence 1:26 727. Almost half (n = 21) newborns detected solely via...
<h3>Background</h3> Variants of <i>SCN5A</i>, encoding cardiac sodium channel, have been linked to the development dilated cardiomyopathy (DCM). We aimed explore novel <i>SCN5A</i> variants in patients with idiopathic DCM (iDCM) and identify distribute characteristics pathological mechanisms as well clinical phenotypes associated iDCM. <h3>Methods</h3> exons sequencing was performed inpatients iDCM (n=90) two control cohorts (arrhythmias group, n=90, healthy n=195). Clinical were compared...
Worldwide, comprehensive newborn screening (NBS) now includes a clinical examination at birth, hearing screening, pulse oximetry measurement for congenital heart defects, and biochemical to identify disorders early in life, preventing irreversible damage, mortality enhancing overall health outcomes. This article provides overview of NBS South Africa, outlining the history, current status, future plans expansion. In is fragmented, with some investigations included neonatal assessments....
The International Society for Neonatal Screening (ISNS) has supported the standardization of measurement key biochemical markers neonatal screening diseases: thyroid-stimulating hormone (TSH) congenital hypothyroidism, phenylalanine (PHE) phenylketonuria, and 17α-hydroxyprogesterone (17OHP) adrenal hyperplasia. These diseases are commonly a part panels worldwide. ISNS provides series secondary reference materials to manufacturers reagents assist in production calibration kits. This technical...
aims: Severe B12 deficiency is harmful to infants. This study describes the recent detection and treatment rates of antenatal infant in Auckland–Northland region. method: Regional laboratory data on serum levels were analysed. deficient infants pregnant women identified paired with their corresponding mother or infant, followed by a review electronic health records. results: Testing incidence was low (5 per 1,000 year). Among 529 tested over 5 years, 6% exhibited (<148pmol/L). Antenatal...
Summary Objective To determine the effectiveness of a novel therapeutic paradigm to treat congenital hypothyroidism (CH) incorporating variable initial doses L‐T4 based on underlying aetiology and frequent monitoring, up 2 years age. Design Retrospective cohort study. Patients Infants with primary CH diagnosed by newborn screening. Measurements Treatment suspension initiated at 10, 12 15 µg/kg/day for dyshormonogenesis, ectopia athyreosis, respectively. Serum TSH free T4 (FT4) levels...
Webster, D. R. M.D. Ph.D.; Henrikson, H. Winter Currie, J. Author Information