ORCID Profile
0000-0002-2915-0673
Current Organisations
University of Cambridge
,
Monash Health
,
Monash University
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Publisher: Springer Science and Business Media LLC
Date: 24-08-2017
DOI: 10.1007/S00198-016-3742-0
Abstract: This study assessed the prevalence and types of fractures in spina bifida and examined risk factors for fracture. Fracture prevalence was highest in childhood and reduced in adolescence and young adulthood. The importance of maintaining mobility is highlighted by the increased risk of fracture in those who are non-ambulatory. The aims of this study are to study the prevalence and types of fractures according to age group in spina bifida and examine risk factors associated with fracture. This is a retrospective cohort study of 146 in iduals with spina bifida aged 2 years or older who attended the paediatric or adult spina bifida multidisciplinary clinic at a single tertiary hospital. Median age at which first fracture occurred was 7 years (interquartile range 4-13 years). Fracture rates in children (ages 2-10), adolescents (ages 11-18) and adults (age > 18) were 10.9/1000 (95 % confidence interval 5.9-18.3), 5.4/1000 (95 % CI 1.5-13.8) and 2.9/1000 (95 % CI 0.6-8.1) patient years respectively. Childhood fractures predominantly involved the distal femur and femoral shaft these fractures were rarely seen in adulthood. Non-ambulatory status was associated with a 9.8 times higher risk of fracture compared with ambulatory patients (odds ratio 9.8, p = 0.016, 95 % CI 1.5-63.0). Relative risk of re-fracture was 3.1 (95 % CI 1.4-6.8). Urological intervention with intestinal segments was associated with renal calculi (p = 0.037) but neither was associated with fracture. The risk of fracture is lower in adults compared with children with spina bifida. The predominant childhood fracture affects the distal femur, and immobility is the most significant risk factor for fracture. Clinical factors contributing to fracture risk need to be elucidated to enable selection of patients who require investigation and treatment of osteoporosis.
Publisher: S. Karger AG
Date: 2003
DOI: 10.1159/000068576
Abstract: i Aim: /i To assess thyrotropin (thyroid-stimulating hormone TSH) suppression and serum thyroxine (T sub /sub ) concentrations in infants with congenital hypothyroidism in relation to T sub /sub dose and pretreatment parameters. i Method: /i A retrospective study of all cases treated in a single centre since neonatal screening began was performed. i Results: /i In 54 infants treated with a mean daily T sub /sub dose of 9.8 µg/kg, the TSH concentration was suppressed ( mU/l) in 65% of the cases by 6 months with the serum T sub /sub level at the upper end of the infant reference range. Infants who suppressed their TSH later did not differ in pretreatment serum TSH or T sub /sub concentration. T sub /sub dose and serum T sub /sub level were lower in infants whose TSH was not suppressed. i Conclusions: /i TSH suppression in congenital hypothyroidism is significantly related to serum levels and dosage of T sub /sub . We suggest that a delay in TSH suppression is mainly due to undertreatment.
Publisher: Wiley
Date: 03-2018
DOI: 10.1111/JPC.13768
Abstract: Bisphosphonate therapy is the mainstay of pharmacological intervention in young people with skeletal fragility. The evidence of its use in a variety of conditions remains limited despite over three decades of clinical experience. On behalf of the Australasian Paediatric Endocrine Group, this evidence-based consensus guideline presents recommendations and discusses the graded evidence (using the GRADE system) for these recommendations. Primary bone fragility disorders such as osteogenesis imperfecta are considered separately from osteoporosis secondary to other clinical conditions (such as cerebral palsy, Duchenne muscular dystrophy). The use of bisphosphonates in non-fragility conditions, such as fibrous dysplasia, avascular necrosis, bone cysts and hypercalcaemia, is also discussed. While these guidelines provide an evidence-based approach where possible, further research is required in all clinical applications in order to strengthen the recommendations made.
Publisher: The Endocrine Society
Date: 03-2016
DOI: 10.1210/JC.2015-3888
Abstract: Cerebral palsy (CP) increases fracture risk through diminished ambulation, nutritional deficiencies, and anticonvulsant medication use. Studies examining bone mineral density (BMD) in adults with CP are limited. To examine the relationship between body composition, BMD, and fractures in adults with CP. The effect of functional, nutritional, and endocrine factors on BMD and body composition is also explored. Retrospective cross-sectional study. Forty-five adults with CP (mean age, 28.3 ± 11.0 years) who had dual-energy x-ray absorptiometry imaging at a single tertiary hospital between 2005 and 2015. Seventeen (38%) had a past history of fragility fracture 43% had a Z-score of ≤ -2.0 at the lumbar spine (LS) and 41% at the femoral neck (FN). In nonambulatory patients, every one unit decrease in FN Z-score increased the risk of fracture 3.2-fold (95% confidence interval, 1.07-9.70 P = .044). Stepwise linear regression revealed that the Gross Motor Function Classification System was the best predictor of LS Z-score (R(2) = 0.550 β = -0.582 P = .002) and FN Z-score (R(2) = 0.428 β = -0.494 P = .004) 35.7% of the variance in BMD was accounted for by lean tissue mass. Hypogonadism, present in 20% of patients, was associated with reduced lean tissue mass and reduced LS BMD. Lean tissue mass positively correlated with BMD in eugonadal patients, but not in hypogonadal patients. Low BMD and fractures are common in adults with CP. This is the first study to document hypogonadism in adults with CP with detrimental changes in body composition and BMD.
Publisher: Wiley
Date: 06-10-2014
DOI: 10.1111/JPC.12399
Abstract: A 9 year old girl presented with seizures, weight gain and early morning behavioural changes. She had been commenced on anticonvulsants and was subsequently diagnosed with hyperinsulinaemic hypoglycaemia. This case demonstrates the importance of blood glucose monitoring in children presenting with new-onset seizures and/or with early morning or fasting behavioural changes, the challenges in localizing the lesion, as well as the difficulties in achieving normoglycaemia prior to, and immediately following, surgery.
Publisher: Wiley
Date: 11-2005
DOI: 10.1111/J.1440-1754.2005.00718.X
Abstract: The adverse effects of glucocorticoids on bone health are well recognized. In adults, evidence-based guidelines exist to base management of patients with glucocorticoid-induced osteoporosis. Osteoporosis is also recognized in children and adolescents with chronic disease requiring steroid treatment. Additional complexities in the assessment and management of growing children mean that evidence-based guidelines for this complex patient group have not been produced. Factors, which need to be taken into account, include defining osteoporosis in childhood and addressing the effects of chronic disease and glucocorticoid treatment on a number of parameters including the skeleton, growth, puberty, nutrition and vitamin D status. In the absence of randomized controlled trials to guide clinical practice, we provide proposals for the prevention and management of steroid-induced osteoporosis, drawing on the available evidence and our clinical experience of managing children and adolescents with steroid-induced osteoporosis.
Publisher: Bentham Science Publishers Ltd.
Date: 2008
DOI: 10.2174/138920008783331167
Abstract: UDP glucurononosyltransferases (UGT) are a superfamily of enzymes that catalyse the conjugation of a range of structurally erse drugs, environmental and endogenous chemicals with glucuronic acid. This process plays a significant role in the clearance and detoxification of many chemicals. Over the last decade the regulation and substrate profiles of UGT isoforms have been increasingly characterised. The resulting data has facilitated the prototyping of ligand based in silico models capable of predicting, and gaining insights into, binding affinity and the substrate- and regio- selectivity of glucuronidation by UGT isoforms. Pharmacophore modelling has produced particularly insightful models and quantitative structure-activity relationships based on machine learning algorithms result in accurate predictions. Simple structural chemical descriptors were found to capture much of the chemical information relevant to UGT metabolism. However, quantum chemical properties of molecules and the nucleophilic atoms in the molecule can enhance both the predictivity and chemical intuitiveness of structure-activity models. Chemical ersity analysis of known substrates has shown some bias towards chemicals with aromatic and aliphatic hydroxyl groups. Future progress in in silico development will depend on larger and more erse high quality metabolic datasets. Furthermore, improved protein structure data on UGTs will enable the application of structural modelling techniques likely leading to greater insight into the binding and reactive processes of UGT catalysed glucuronidation.
Publisher: Wiley
Date: 11-02-2004
DOI: 10.1111/J.1365-2214.2003.00398.X
Abstract: Surgery for undescended testes is recommended before the age of 2 years. However, boys are still undergoing surgery for undescended testes at a much later age than recommended. An initial audit reviewed all orchidopexies performed at North ton General Hospital between 1992 and 1994. This demonstrated that only 19% of boys had surgery by the age of 2 years, and the key reason for late surgery was late referral. Guidelines for referral of undescended testes were established in which referral to a surgeon was advised following the 8-month child health surveillance check if undescended testis was suspected. This would enable surgery before the age of 2 years. Audit results were disseminated and we implemented a package of measures based on evidence based change management techniques. These included written advice to general practitioners (GPs), a parent information leaflet and an amended personal child health record advising timing of referral. A reminder to the GP to refer following the 8-month check was generated using computer recall from the Child Health System records. Guideline implementation was monitored by annual audit and feedback. The baseline audit for the years 1992-94 found a median age at surgery of 4 years. Implementation of the new policies in 1998 resulted in a reduction in median age at surgery to 2.0 years in the 12 months ending September 2001. While concern about the age at orchidopexy has been highlighted in many previous studies, this is the first to show that improvement in the age at orchidopexy can be achieved. Implementing locally agreed guidelines with written information to GPs and parents combined with computerized recall from Child Health System records achieved the target within 3 years. Similar systems could be implemented nationally at minimal cost.
Publisher: Wiley
Date: 08-06-2015
DOI: 10.1111/JPC.12935
Abstract: The aim of this paper was to investigate the relationship between circulating 25-hydroxyvitamin D (25(OH)D) and cardio-metabolic risk factors in a large cohort of obese youth attending tertiary paediatric obesity services. We conducted a retrospective cross-sectional study. Data were retrospectively collected from all new consultations of children and adolescents attending obesity outpatient clinics between 2008 and 2011 at the two major paediatric hospitals in Melbourne, Australia. Information collected included demographics, anthropometry, blood pressure, pubertal staging, body composition and fasting serum levels of 25(OH)D, glucose, insulin, cholesterol, triglyceride, high-density lipoprotein, liver function, calcium and phosphate. 25(OH)D data were available in 229 patients (age 3-18 years 116 men mean (standard deviation) body mass index ( BMI) Z-score 2.5 (0.5) ). One hundred four (45%) participants were 25(OH)D deficient (<50 nmol/L). Lower serum 25(OH)D levels were associated with higher BMI Z-score (P-trend = 0.001), total fat mass (P-trend = 0.009), systolic (P-trend = 0.03) and diastolic blood pressures(P-trend = 0.009). In multivariable-adjusted regression analysis, 25(OH)D was significantly lower in those with elevated blood pressure after adjustment for BMI(P-trend = 0.004) or total fat mass (P-trend = 0.01). Overweight and obese youth attending specialist obesity services have a high prevalence of vitamin D deficiency. In this population, lower levels of vitamin D were seen in those with greater adiposity, and independent of this, in those who had higher blood pressure.
Publisher: Oxford University Press (OUP)
Date: 05-2016
Publisher: Wiley
Date: 08-2012
DOI: 10.7863/JUM.2012.31.8.1281
Abstract: We report a series of ectopic thymus glands as detected by sonography in infants with thyroid agenesis. The patients were children who underwent nuclear medicine and sonography for congenital hypothyroidism. Of the 12 patients with a diagnosis of thyroid agenesis over a 5-year period, 4 (33%) were shown to have ectopic thymic tissue. Although a cervical ectopic thymus has been previously reported, there is very little discussion of it occurring in conjunction with thyroid agenesis. This case series highlights the importance of recognition of ectopic thymic tissue when examining for thyroid tissue in the setting of congenital hypothyroidism.
Publisher: Walter de Gruyter GmbH
Date: 2005
Abstract: Intersex occurs when the appearance of the internal or external genitalia is at variance with normal development for either sex. The first question asked by, and of new parents in relation to their offspring is often "Is it a boy or a girl"? A rational approach, based on knowledge of normal prenatal sexual development, and based on a careful physical examination to guide further investigation, is required to reach a diagnosis. We briefly review prenatal sexual development to provide a background to the assessment of genital ambiguity in the newborn. Aspects of physical examination are discussed in detail, with reference to published normative data where possible. We provide a classification of genital ambiguity and an approach to differential diagnosis. We highlight some of the many syndromes associated with genital ambiguity, with reference to their genetic basis where possible. In 46,XX in iduals, the commonest cause of genital ambiguity is congenital adrenal hyperplasia due to 21-hydroxylase deficiency however, in 46,XY in iduals the differential diagnosis is wide, and may remain unexplained, even after extensive investigation. Two algorithms are presented, one of which provides an initial approach based on the presence of a uterus and palpable gonads alone, and a second illustrating a comprehensive differential diagnosis of the undervirilised 46,XY in idual. We discuss our approach to sharing information on the diagnosis and management with the parents and highlight the early involvement of an experienced multidisciplinary team. Finally, we consider current controversial issues relating to gender assignment and management of genital ambiguity.
Publisher: Wiley
Date: 22-10-2022
DOI: 10.1111/JPC.15770
Publisher: Wiley
Date: 09-2005
DOI: 10.1111/J.1440-1754.2005.00696.X
Abstract: Abstract: Neonatal diabetes mellitus (hyperglycaemia within the first month of life, with an insulin requirement) may be transient or permanent. Management is complex, due to lack of subcutaneous fat and the need for small doses of insulin, and may be complicated by additional medical problems. Three cases are presented, the first of which was treated with conventional insulin therapy. The latter two were successfully treated with subcutaneous insulin pump therapy. We present suggested guidelines for treatment of neonatal diabetes, using this novel approach to management.
Publisher: Wiley
Date: 03-01-2017
DOI: 10.1111/DMCN.13355
Publisher: Wiley
Date: 20-03-2014
Abstract: Congenital hypothyroidism (CH), as indicated by an elevation of capillary thyroid-stimulating hormone (TSH) at newborn screening, is a preventable cause of mental retardation with varying aetiology it can be transient or permanent. Radionuclide assessment is currently the gold standard for imaging CH. This study aimed to (i) review the different scintigraphic patterns and correlate them with TSH levels atient outcomes, (ii) assess the role of sonography in neonates with apparent agenesis as indicated by scintigraphy and (iii) develop a diagnostic investigative algorithm. The technetium thyroid scans of 83 consecutive patients (49 females, average age 32 days) with CH scanned between 2005 and 2009 were retrospectively reviewed. Two nuclear medicine physicians blinded to the clinical details interpreted the scans in consensus. Scintigram appearances were categorised into five groups. Patients scintigraphically diagnosed with thyroid agenesis were evaluated with ultrasound. TSH values and scintigraphic and sonographic findings were correlated with patients' final diagnosis. Based on scintigraphy, 14, 13 and 19 patients out of 83 were assessed as having normal thyroid sites with normal, increased and decreased uptake, respectively. Twenty-two of 83 patients had no uptake, and 15 of 83 patients had ectopic uptake. Higher median TSH levels were seen in no-uptake and ectopic uptake subgroups. Eighteen of 22 patients with no uptake were evaluated with ultrasound. Three of the 18 patients had a normal thyroid gland, and three of 18 patients had a hypoplastic thyroid. Scintigram findings in patients with congenital hypothyroidism fall into five major categories, which have therapeutic implications (lifelong thyroxine in agenesis versus trial of stopping thyroxine in other subgroups). Sonographic demonstration of thyroid tissue in patients scintigraphically diagnosed with thyroid agenesis has major management implications.
Publisher: Springer Science and Business Media LLC
Date: 2006
DOI: 10.1007/BF02758268
Publisher: Walter de Gruyter GmbH
Date: 2009
DOI: 10.1515/JPEM.2009.22.1.55
Abstract: To study the safety and efficacy of zoledronic acid treatment in children with osteoporotic bone disorders. Observational study in 22 patients with osteogenesis imperfecta and related conditions who were treated at our institution with zoledronic acid. These patients had initial treatment with pamidronate. Lumbar spine z-scores, annual change in areal bone mineral density, bone mineral adjusted density, fracture number and linear growth before and after zoledronic acid treatment was commenced were compared. Patients were treated for a mean of 3.4 years with zoledronic acid after a mean of 3.75 years of pamidronate therapy. There was no difference in areal bone mineral density accrual in the first year of zoledronic acid treatment compared to the preceding year of pamidronate treatment. Lumbar spine z-scores and bone mineral adjusted density continued to increase with zoledronic acid. Number of fractures during treatment was significantly reduced compared to baseline with either bisphosphonate, with no difference between treatments. Linear growth was not affected. Zoledronic acid is at least as effective as pamidronate as treatment for paediatric osteoporosis, and has a similar safety profile.
Publisher: Wiley
Date: 12-2017
DOI: 10.1111/JPC.13730
Publisher: Wiley
Date: 21-01-2008
DOI: 10.1111/J.1365-2265.2008.03189.X
Abstract: Bisphosphonate use in adult patients has been linked to osteonecrosis of the jaw (ONJ). This complication has not been systematically assessed in a paediatric population receiving bisphosphonates. To assess our cohort of paediatric patients treated with intravenous bisphosphonate for occurrence of ONJ. Observational study at a tertiary children's hospital. A total of 42 paediatric patients with osteoporosis who received bisphosphonate infusions for a mean of 6.5 years (SD 2.7 years) were assessed clinically and radiographically for possible ONJ. Among 42, 37 patients had received disodium pamidronate 1 mg/kg/dose at a mean cumulative dose of 19.8 mg/kg and zoledronic acid (ZA) 0.05 mg/kg/dose at a mean cumulative dose of 0.49 mg/kg four had received ZA and one received pamidronate alone. Invasive dental treatment during bisphosphonate treatment, a known risk factor for osteonecrosis, was specifically assessed. In all patients assessed, including 11 who had invasive dental treatment, there were no cases of osteonecrosis. ONJ has so far not been demonstrated in this patient group.
Publisher: Springer Science and Business Media LLC
Date: 2006
DOI: 10.1007/BF02758267
Publisher: Wiley
Date: 11-2005
DOI: 10.1111/J.1440-1754.2005.00720.X
Abstract: To describe an attempted interventional trial for glucocorticoid-induced osteoporosis in children and adolescents and to discuss the reasons for trial failure to inform future interventional studies in this important group of patients. Prospective randomized controlled trial comparing the effect of bisphosphonate therapy with calcium and vitamin D supplementation on bone mineral accrual is described. For non-trial patients, retrospective analysis of the effect of calcium and vitamin D supplementation combined with bisphosphonate treatment on bone mineral accrual. Only 12 patients were enrolled in the trial over 4 years. Bisphosphonate recipients (n = 5) had a mean annual percentage increase in lumbar spine bone mineral density of 8.76 +/- 5.2% compared to 6.6 +/- 4.0% in the calcium/vitamin-treated group (difference not significant). Mean annual change in lumbar spine areal bone mineral density in non-trial patients (n = 11) was 3.72 +/- 2.5%. Conducting a randomized controlled trial in this group of corticosteroid users is difficult, given the unpredictable nature of the underlying disease and intermittent need for steroid treatment. The trial failed through inadequate recruitment combined with discontinued interventions.
Publisher: MDPI AG
Date: 05-02-2019
DOI: 10.3390/NU11020340
Abstract: Gut appetite hormone responses may be influenced by meal macronutrients and obesity. The primary aim of this study was to examine in adolescents with obesity and of healthy weight the effect of a high-protein and a high-carbohydrate meal on postprandial gut appetite hormones. A postprandial cross-over study with adolescents 11–19 years old was undertaken. Participants consumed, in random order, a high 79% carbohydrate (HCHO) and a high 55% protein (HP) meal. Ghrelin, glucagon-like peptide 1 (GLP-1), peptide YY (PYY), and self-reported appetite were assessed for four hours postprandial. Total energy intake from an ad libitum lunch and remaining 24 h was assessed. Eight adolescents with obesity (OB) and 12 with healthy weight (HW) participated. Compared with HW, OB adolescents displayed a smaller ghrelin iAUC (−25,896.5 ± 7943 pg/mL/4 h vs. −60,863.5 ± 13104 pg/mL/4 h) (p = 0.008) with no effect of meal (p 0.05). The suppression of ghrelin relative to baseline was similar between OB and HW. Ghrelin suppression was greater following the HP vs. HCHO meal (effect of meal, p = 0.018). Glucose and insulin response were greater following HCHO vs. HP, with responses more marked in OB (time × weight × meal interaction, p = 0.003 and p = 0.018, respectively). There were no effects of weight or macronutrient on GLP-1 or PYY, appetite or subsequent energy intake. The present study demonstrates that dietary protein can modulate postprandial ghrelin responses however, this did not translate to subsequent changes in subjective appetite or energy intake.
Publisher: Springer Science and Business Media LLC
Date: 29-11-2016
Publisher: Springer Science and Business Media LLC
Date: 20-07-2019
DOI: 10.1007/S00394-018-1783-1
Abstract: Manipulation of meal macronutrient may be a useful way to modulate meal-induced thermogenesis (MIT) to induce increases in energy expenditure. The objective of this study was to examine in adolescents with obesity and of healthy weight and the effect of a high protein and high carbohydrate meal on MIT. An acute cross-over study with adolescents aged 11-19 years was undertaken. Participants consumed in random order, a high 79% carbohydrate (HCHO), and a high 55% protein (HP) meal (adjusted to 25% of energy requirements). MIT and subjective appetite were assessed for 4 h postprandial and an ad libitum lunch served. Data calculated as total AUC and expressed as mean ± SEM. Thirteen adolescents with obesity (mean BMI z score 2.3 ± 0.1) and 13 healthy weight (BMI z score 0.0 ± 0.2) participated. Mean MIT (% of energy intake) was greater after the HP (8.19 ± 0.709%) compared with the HCHO meal (4.36 ± 0.480%) (p < 0.001). The HP compared with the HCHO meal promoted greater fullness (12,994 ± 1208 vs 11,186 ± 1220 mm/4 h) (p = 0.016) and decreased hunger (8868 ± 1315 vs 10984 mm ± 1438 mm/4 h) (p = 0.007). These effects observed were independent of body weight. High protein meals can increase MIT and fullness and reduce hunger compared with high carbohydrate meals in adolescents with obesity. Future research is warranted to determine if MIT can be targeted through manipulation of dietary choices to support weight management strategies. This study is registered with the Australian New Zealand Clinical Trials Registry (ANZCTR). Trial ID: ACTRN12612001066875.
Publisher: Walter de Gruyter GmbH
Date: 2011
Abstract: This report describes a case of a neonate presenting with many of the typical phenotypic characteristics of chromosome 3p deletion including hypertelorism, flat nasal bridge, flat philtrum, thin lips and low-set ears. The hands and feet showed post axial polydactyly, single palmar creases and rocker bottom feet. A karyotype confirmed chromosome 3p25.3-pter deletion with normal parental karyotypes. A high TSH was noted on newborn screening and congenital hypothyroidism was confirmed on thyroid function tests. Thyroid nuclear imaging was suggestive of dyshormonogenesis. This is the first reported case of congenital hypothyroidism in an infant with chromosome 3p deletion.
Publisher: S. Karger AG
Date: 2023
DOI: 10.1159/000527754
Abstract: b i Introduction: /i /b Steroid 5-alpha reductase deficiency (5α-R2D) is a rare condition caused by genetic variants that reduce the activity of the enzyme that converts testosterone into dihydrotestosterone. The clinical spectrum of 5α-R2D is known to overlap with other 46,XY differences of sex development (DSD) such as androgen insensitivity or gonadal dysgenesis. However, the clinical trajectories of the aetiologies can differ, with 5α-R2D presenting its own challenges. b i Methods: /i /b In this study, we have collated clinical information for five in iduals with variants in i SRD5A2 /i identified using research genetic testing in an Australian paediatric setting. b i Results: /i /b We describe how a genetic finding resolved or confirmed a diagnosis for these in iduals and how it guided clinical management and family counselling. b i Conclusion: /i /b This work highlights the importance of early genetic testing in children born with 46,XY DSD where it complements traditional first-line testing.
Publisher: Wiley
Date: 10-07-2019
DOI: 10.1111/CEN.14052
Abstract: Cerebral palsy (CP) is a motor disorder affecting movement, muscle tone and posture due to damage to the foetal or infant brain. The subsequent lack of ambulation, nutritional deficiencies, anticonvulsant use and hormonal deficiencies have been implicated in the low bone mass associated with this condition. To assess changes in areal bone mineral density (aBMD) during adolescence and young adulthood in in iduals with CP. The effect of ambulation, nutrition, hypogonadism on longitudinal changes in aBMD is also examined. Retrospective longitudinal study. Forty-five subjects with CP who had longitudinal dual-energy X-ray absorptiometry (DXA) scans at a single tertiary hospital between 2006 and 2018. Mean age at first DXA was 19.4 years (range: 10-36 years), 57.8% were male and 80% were nonambulatory. The mean Z-scores at baseline were <-2.0 at all sites - lumbar spine (LS), femoral neck (FN), total hip (TH) and total body (TB). The median change in aBMD was +1.2%-1.9% per year in all subjects but in those <20 years of age, the median change was 4%-8% per year. Z-scores across all sites remained stable over time. Reduced functional state as measured by the gross motor functional classification scale (GMFCS) had a small negative effect on aBMD over time. In adolescents with CP, low bone mass was evident from the baseline DXA. However, significant bone accrual occurred during the second decade, followed by bone maintenance in young adulthood. Future studies should focus on optimizing bone health from early childhood.
Publisher: Informa UK Limited
Date: 06-2005
Publisher: Walter de Gruyter GmbH
Date: 2004
DOI: 10.1515/JPEM.2004.17.11.1575
Abstract: DiGeorge syndrome, which falls within a wider phenotypic spectrum associated with deletions of 22q11.2, is associated with a number of endocrine disorders. These include hypoparathyroidism, hypothyroidism and growth hormone deficiency. We report an unusual case of autoimmune hyperthyroidism (Graves' disease) presenting in a 3 year-old male with DiGeorge syndrome. The development of endocrine specific autoimmune disease in a syndrome associated with immune deficiency and the spectrum of endocrine autoimmunity associated with deletions of 22q11.2 are described. Paediatricians and patients with 22q11.2 deletions should be particularly aware of the risks of developing disorders of thyroid function.
Location: United Kingdom of Great Britain and Northern Ireland
No related grants have been discovered for Justin Brown.