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Background: Clinical diagnosis of POLG-related disorders can be challenging because the phenotypic spectrums are heterogeneous which can mimic different types of mitochondrial disorders., Case: We report a case of POLG-related disorder in an 18y Chinese girl who had been diagnosed as MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) for the past 8y. She first presented at 10y with sudden onset of headache, repeated focal seizures and visual loss, complicated with residual sensory and motor neuropathy, ophthalmoparesis and cortical blindness. MRI brain showed extensive cytotoxic edema and ischemia in bilateral parietal-occipital lobes. Mutation analysis for common point mutations in the mitochondrial DNA and muscle biopsy was negative. She was referred to us for mitochondrial whole genome analysis. However, no pathogenic variants can be determined. We initiated further genetic analysis for POLG which confirmed compound heterozygous mutations NM_002693.2:c.925C>T (p.Arg309Cys) and a novel mutation c.2244G>T (p.Trp748Cys). Both were determined to be pathogenic using in silico analysis., Conclusions: The novel mutation contributes to the expanding spectrum of disease-causing mutations. A definitive diagnosis can benefit our patient and also the relatives by avoiding sodium valproate induced liver toxicity in POLG patients and also the heterozygotes., (Copyright © 2015 Elsevier B.V. All rights reserved.)

OBJECTIVES. To investigate the demographic characteristics and insulin resistance in local overweight/obese Chinese children with and without acanthosis nigricans, and the associations of acanthosis nigricans with insulin resistance and other cardiometabolic co-morbidities. DESIGN. Case series with cross-sectional analyses. SETTING. A regional hospital in Hong Kong. PATIENTS. Chinese children assessed between January 2006 and December 2010 at Tseung Kwan O Hospital for being overweight or obese. MAIN OUTCOME MEASURES. The demographics, anthropometric data, acanthosis nigricans status, and biochemical results were analysed. RESULTS. A total of 543 overweight/obese children were studied with 64% being boys and 29% had insulin resistance. Adolescents aged 12 to 18 years, compared with children aged 5 to 11 years, were more likely to have acanthosis nigricans (63% vs 47%; P<0.001) and insulin resistance (37% vs 25%; P=0.005). Compared with overweight children, those who were obese were more likely to have the two conditions: acanthosis nigricans (59% vs 44%; P=0.005) and insulin resistance (35% vs 19%; P=0.001). Compared with those without acanthosis nigricans, those with the condition had significantly higher mean values for systolic blood pressures (P<0.001), 2-hour post-oral glucose tolerance test glucose level (P=0.021), fasting insulin level (P<0.001), homeostasis model of assessment-insulin resistance (P<0.001), fasting triglyceride level (P<0.001), and alanine aminotransferase level (P=0.002), but a lower high-density lipoprotein cholesterol level (P<0.001). Those with acanthosis nigricans were also more likely to have insulin resistance (P<0.001), hypertension (P=0.021), fatty liver (P=0.001), and abnormal glucose homeostasis (P=0.003). CONCLUSION. Obese Chinese children and adolescents with acanthosis nigricans had a higher chance of having insulin resistance and cardiometabolic co-morbidities. Acanthosis nigricans is an important clinical feature warranting early attention and evaluation to facilitate timely interventions and monitoring.

Thalassaemia is the most common haemoglobinopathy in the Chinese population. However, recurrent painful digital swelling is not a typical manifestation of this well-known hereditary condition. We describe a case of co-inheritance of beta-thalassaemia and sickle cell trait in a Chinese family and a child who suffered from sickle cell/beta-thalassaemia with recurrent dactylitis. This report highlights awareness of this rare condition in the Chinese population, since acute manifestations can be life-threatening and mimic other emergency conditions. Prompt management can prevent further complications and avoid unnecessary interventions due to delay in diagnosis. A detailed family history and examination of the patient's peripheral blood smear is crucial to reach a correct diagnosis.

Objectives: To explore the attitudes of adolescents and parents toward transition care and to identify factors and barriers associated with transition decision., Methods: The study was conducted at a pediatric out-patient clinic using a self-administered questionnaire to evaluate the perspective of adolescent chronic patients on transition care for common chronic diseases. Despite its importance as emphasized in medical literature, transition care for adolescent patients with chronic illnesses is under-developed in Hong Kong., Results: A total of 137 adolescents aged 16-19 years, and 67 parents completed the survey; 85.3% of adolescents and 82.5% of parents were willing to transfer to adult care. "Adolescent's perception of his/her own responsibility towards chronic illness" was positively associated with willingness to transfer to adult care (OR = 3.84; 95% CI, 1.41-10.45; p = .008), whereas "Detailed explanation by doctors" encouraged transition decision for adolescents (OR = 12.20; 95% CI, 1.22-122.33; p = .033). "Do not want to change" was the only significant barrier for transition for both adolescents (OR = .08; 95% CI, .01-.50; p = .007) and parents (OR = .07; 95% CI, .02-.36; p = .001). However, less than 10% of subjects had ever received any transition information from doctors or other healthcare workers., Conclusions: This is the first study in Asia region evaluating attitudes of adolescents and parents on transition care. The majority of adolescents and parents accept transition care from pediatrics to adult service, but only a small proportion has ever received transition information from doctors. Our findings should be useful to healthcare providers in planning transition care programmes for adolescent patients with chronic illnesses., (Copyright © 2010 Society for Adolescent Health and Medicine. Published by Elsevier Inc. All rights reserved.)

Aim: To study the efficacy of treating phimosis with topical steroid, and its long-term outcome and side effects. We also looked into the effect of daily retraction and cleansing of prepuce on preventing recurrence of phimsosis., Methods: This prospective study comprised 138 boys who were prescribed 0.05% betamethasone ointment (Diprocel) during 1 August 2001-31 July 2004. Five boys were excluded because of non-compliance. Of the remaining 133 boys, 108 were followed-up and assessed. Age ranged from 0.03 to 12.9 years (mean=3.38, SD=2.79). The number of treatment course received, short-term and long-term outcome, side effects and the effect of daily foreskin retraction were studied., Results: The success rate of first treatment course was 81.5%, and 60.2% of boys remained free from phimosis upon latest assessment. The follow-up period ranged from 0.4 to 4.4 years (mean=2.45, SD=0.90). There were no side effects noted. We found a significant and linear relationship between daily foreskin retraction and sustained resolution of phimosis., Conclusion: Topical steroid is an effective and safe treatment for phimosis, especially when combined with a good hygiene practice of the foreskin with daily cleansing and retraction. A trial of topical steroid treatment should be offered upon considering circumcision.

This article reviews the available data on the study of iodine deficiency disorders in Hong Kong and to discuss the approach towards preventing such disorders in Hong Kong. The importance of iodine and iodine deficiency disorders is described, and the available data on the dietary iodine intake and urinary iodine concentration in different populations of Hong Kong are summarised and discussed. Dietary iodine insufficiency among pregnant women in Hong Kong is associated with maternal goitrogenesis and hypothyroxinaemia as well as neonatal hypothyroidism. Borderline iodine deficiency exists in the expectant mothers in Hong Kong. Women of reproductive age, and pregnant and lactating women should be made aware and educated to have an adequate iodine intake, such as iodised salt, as an interim measure. A steering group involving all stakeholders should be formed to advise on the strategy of ensuring adequate iodine intake, including universal iodisation of salt in Hong Kong. Continuous surveillance of iodine status in the Hong Kong population is necessary.

Objective: To extend longitudinally an earlier study of the pathway from symptoms of emotional distress (ED) through self-efficacy (SE) and adherence to glycemic control (GC) in youths with diabetes, and to examine the contribution of different specific adherence behaviors to changes in GC., Methods: Fifty-six Hong Kong youths with diabetes received a follow-up evaluation 12-24 months after initial participation. ED, SE, self-reported adherence to medical regimen (SRA), and GC were assessed at both evaluations., Results: The pathway from ED to SE to SRA to GC was replicated. Participants' SRA to regular checks on blood glucose levels, and taking steps to maintain levels in the recommended range, explained significant variance in changes in GC., Conclusions: The model offers strategies to enhance health care in youths with diabetes. Findings support the importance of adherence to the medical regimen but emphasize the complexity of the relationship between adherence behaviors and GC. Self-regulatory behaviors, rather than compliance with fixed instructions, appear to have the most impact on GC.

We report resolution of ground-glass appearance in high-resolution computed tomography of chest in a 6-year-old girl who had Gaucher disease with pulmonary involvement. This radiographic abnormality, which developed during the course of enzyme replacement therapy at doses between 20 to 60 U/kg/2 weeks, resolved when the dose was increased to 100 U/kg/2 weeks. This case illustrates the importance of trial of escalating dosage in the face of failure of response at lower doses.

Objective: To examine factors that influence emotional adjustment, adherence to diabetic care, and glycemic control in Hong Kong youths with insulin-dependent diabetes mellitus (IDDM)., Methods: Seventy youths, their mothers, and matched controls provided information on health beliefs, authoritarian parenting style, parent-child conflict, emotional adjustment, and adherence to medical regimen. Glycosylated hemoglobin levels were obtained to measure glycemic control., Results: Predictors explained 34% of the variance in emotional adjustment and 39% of the variance in glycemic control. The data supported a pathway from emotional adjustment to self-efficacy to adherence behaviors to glycemic control. In contrast to Western culture and consistent with prediction, parenting style did not associate with negative outcomes, and even relatively low levels of parent-child conflict correlated negatively with emotional adjustment in this culture., Conclusions: Management of conflict and self-efficacy enhancing interactions are suggested interventions to enhance adherence to diabetic care in Hong Kong youths with IDDM.

Objectives: To establish a registry for Chinese children with onset of type 1 (insulin dependent) diabetes mellitus before 15 years of age and to determine the incidence of childhood onset type 1 diabetes mellitus in Chinese children in Hong Kong., Research Design and Methods: A registry was established in 1997 to collect childhood diabetes cases retrospectively from all districts in Hong Kong. The study included all newly diagnosed cases of diabetes with onset < 15 yr of age from 1st January 1984 to 31 December 1996. Primary ascertainment was based on review of medical records at all regional public hospitals in Hong Kong and survey of all the registered practitioners in Hong Kong. The secondary source of validation was made impractical, if not impossible, because of the recent implementation of the Personal Data Privacy Ordinance in Hong Kong., Results: A total of 255 diabetic cases were identified, 227 type 1 diabetes mellitus (218 were Chinese), 18 type 2 diabetes mellitus and 11 secondary diabetes. 246 patients were Chinese and 9 non-Chinese. The age-standardized incidence of type 1 and type 2 diabetes mellitus in southern Chinese children in Hong Kong was 1.4/100,000/yr and 0.1/100,000/yr respectively for children < 15 yr of age during the study period. The incidence rates for type 1 diabetes were 0.9, 1.5 and 1.7 per 100,000/yr for 0-4 years, 5 to 9 years and 10 to 14 years age-groups respectively. The incidence for males was 1.2/100,000/yr and for females 1.7/100,000/yr. A significant increase in the incidence was demonstrated during the study period by simple linear regression (slope 0.14/100,000/year, r2 = 0.73, p = 0.0002), Conclusions: A diabetic registry is established in Hong Kong. This study documents a very low incidence rate of childhood type 1 diabetes mellitus in southern Chinese children in Hong Kong and we have seen an increasing incidence of the disease in the past 13 years.

We report on a 12-year-old boy with herpes simplex encephalitis, in whom a severe localised skin reaction developed following the infusion of intravenous acyclovir. Oral valaciclovir was given as continuation therapy to complete the 3-week course of antiviral treatment and resulted in complete recovery without side effects. This report illustrates the advantage of using the polymerase chain reaction to diagnose herpes simplex encephalitis and the potential use of newer antiviral agents, such as valaciclovir, as continuation therapy in the management of the infection. The higher oral bioavailability of newer antiviral agents allows part of the extended treatment period of patients with herpes simplex encephalitis to be carried out as an ambulatory oral regimen.

In 1993 a territory-wide cross-sectional growth survey on 25,000 Chinese children from birth to 18 years was performed in Hong Kong. Compared to the last growth survey in 1963, definite secular changes were observed. There was an increase of final adult standing height of 3.6 cm in boys and 2.7 cm in girls, in which 1.8 cm and 0.5 cm respectively for boys and girls was accounted for by the sitting height. Thus most of the height increase had occurred in the leg length in girls, but in boys only half of it. The height difference was more marked during the pubertal years because secular change had brought about an earlier sexual maturation, including an advancement of median menarcheal age by 0.5 year, coupled with an earlier growth spurt. This paper also provides the first growth standards for Chinese from birth to 18 years, with percentile charts on both standing height and sexual maturation in boys and girls.

We have examined the growth and skeletal maturation of 19 children (6 male, 13 female) with central precocious puberty. The aetiology in nine patients (5 male, 4 female) was secondary to a hypothalamic hamartoma. Six children (2 male, 4 female) received no treatment whereas 13 children (4 male, 9 female) were treated with cyproterone acetate in a mean dose of 68 mg/m2 per day (range, 34-260) for a mean duration of 4.5 years (range, 0.8-7.9). There was no significant difference between height SDS for bone age at the beginning and end of observation in either treated or untreated groups. No significant relationship between the mean dose of cyproterone acetate used and change in height SDS for bone age could be determined. We conclude that cyproterone acetate has no beneficial effect on the growth prognosis of children with central precocious puberty.