Parental Knowledge on Nephrotic Syndrome and Disease Relapse in children.

Introduction: Parental knowledge on nephrotic syndrome and disease relapse is important for early recognition and treatment of relapse to prevent the complications. Parental knowledge on nephrotic syndrome was reported to be inadequate from published studies. To date, there is no study on parental knowledge on childhood nephrotic syndrome in Malaysia.

Malaysian Females With Congenital Adrenal Hyperplasia: Surgical Outcomes and Attitudes.

Girls born with congenital adrenal hyperplasia have virilized external genitalia. There is considerable debate regarding both the outcomes of feminizing genitoplasty and timing of the surgery in this population. To investigate outcomes of females 46,XX individuals with CAH in Malaysia, the surgical outcomes of feminizing genitoplasty (FG) and their attitudes toward surgery.

Transition care readiness among patients in a tertiary paediatric department.

Introduction: A smooth transition of healthcare for young people with chronic illnesses from paediatric to adult healthcare services is important to ensure optimal outcome. At the moment, there are no standard guidelines to assess a patient's readiness to transfer care.

Methods: A cross-sectional study using a self-administered questionnaire, adapted from UNC (University of North Carolina) TRxANSITION self-assessment tool was conducted to evaluate patients' transition care readiness in paediatric haematology and paediatric diabetes clinic.

Genotype-phenotype correlation among Malaysian patients with osteogenesis imperfecta.

Background: Osteogenesis imperfecta (OI) is a rare genetic bone disease characterized by bone fragility and low bone mass. OI was mainly caused by genetic mutations in collagen genes, COL1A1 and COL1A2. Nevertheless, new genes have been identified to be causally linked to OI.

Quality of Life in Children with Disorders of Sex Development.

Background/aims: Disorders of sex development (DSD) are a heterogeneous group of rare conditions. Evidence-based treatment is challenged by a lack of clinical longitudinal outcome studies. We sought to investigate the quality of life of children with DSD other than congenital adrenal hyperplasia.

Behavioural Problems in Children with 46XY Disorders of Sex Development.

The aim of this study is to determine the behavioural problems of children with 46XY disorders of sex development (DSD) with genital ambiguity and to identify the risk factors that may influence behaviour. The 27 participants (aged 6-18 years) consisted of 21 patients raised as boys and 6 patients raised as girls. Control data were obtained from a representative sibling of each patient who was matched for age and gender.

Diabetic ketoacidosis at diagnosis of type 1 diabetes mellitus in Malaysian children and adolescents.

Background: Diabetic ketoacidosis (DKA) is a late presentation of newly diagnosed type 1 diabetes mellitus (DM) in children. The aim of this study was to determine the clinical characteristics of type 1 DM at presentation so that appropriate actions can be taken to promote early diagnosis.

Methods: This was a retrospective cohort review from a patient registry database.

Behavioural outcome in children with congenital adrenal hyperplasia: experience of a single centre.

The aim of this study was to determine the behavioral outcome in children with CAH and to identify the risk factors that may influence it. Participants (aged 6-18 years) included 29 girls and 20 boys with CAH and unaffected siblings (25 girls and 17 boys). Psychological adjustment was assessed with parent reports on the Child Behavior Checklist (CBCL).

Autoimmune markers in young Malaysian patients with type 1 diabetes mellitus.

This study determined the prevalence and significance of autoantibodies to GAD65 (GAD Ab), insulin (IAA), tyrosine-like phosphatase (IA2) and islet-cell (ICA) in a group of 213 young Malaysian Type 1 diabetics, diagnosed before the age of 40 years. Venous blood was taken at fasting, and at 6 minutes post-glucagon (1 mg i.v.

Sociodemographic determinants of glycaemic control in young diabetic patients in peninsular Malaysia.

Recent studies have shown that good glycaemic control can prevent the development of diabetic complications in type 1 and type 2 diabetes. We wished to observe the glycaemic control in patients from different centres in Peninsular Malaysia and the factors that determine it. We recruited 926 patients with diabetes diagnosed before age 40 years from seven different centres, with proportionate representation from the three main ethnic groups.

Prevalence of glutamic acid decarboxylase antibodies amongst young Malaysian diabetics.

This study determined the prevalence of glutamic acid decarboxylase antibodies (GAD Ab) in a group of 926 young Malaysian diabetics of three ethnic groups, Malay, Chinese, and Indian. Patients were clinically diagnosed to be Type 1 or Type 2 before the age of 40 years. The overall GAD Ab positivity was 17.

IGF-1 and IGFBP-3 screening for disorders of growth hormone secretion.

Aim: To assess the value of plasma assays of insulin like growth factor (IGF-1) and insulin like growth factor binding protein 3 (IGFBP-3) in the diagnosis of growth hormone disorders in children and adults.

Methods: Plasma IGF-1 and IGFBP-3 were measured in 47 children referred for the assessment of short stature, 26 adult subjects with hypopituitarism and in 10 adult subjects with acromegaly. Findings were compared with results obtained in 148 normal children and 124 normal adult subjects who comprised the reference range.

Growth patterns and outcomes in congenital adrenal hyperplasia; effect of chronic treatment regimens.

Aim: To assess outcome (final height and sexual maturation), growth patterns and blood pressure in 16 children with congenital adrenal hyperplasia treated at one institution over a 30 year period.

Methods: Growth patterns and maturation were determined by retrospective review (median follow up period 14 years). Dose adjustment of corticosteroid replacement treatment, sufficient to maintain normal levels of adrenal precursor secretion, was determined using assays of urinary pregnanetriol excretion (up to 1975) or early morning measurements of plasma 17 hydroxy progesterone and plasma renin activity at intervals of 4-6 months.