Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.

Newborn screening (NBS) is an important public health program that aims to identify pre-symptomatic healthy babies that will develop significant disease if left undiagnosed and untreated. The number of conditions being screened globally is expanding rapidly in parallel with advances in technology, diagnosis, and treatment availability for these conditions. In Hong Kong, NBS for inborn errors of metabolism (NBSIEM) began as a pilot program in October 2015 and was implemented to all birthing hospitals within the public healthcare system in phases, with completion in October 2020. The number of conditions screened for increased from 21 to 24 in April 2016 and then to 26 in October 2019. The overall recruitment rate of the NBS program was 99.5%. In the period between October 2015 and December 2022, 125,688 newborns were screened and 295 were referred back for abnormal results. The recall rate was reduced from 0.26% to 0.12% after the implementation of second-tier testing. An inherited metabolic disorder (IMD) was eventually confirmed in 47 infants, making the prevalence of IMD in Hong Kong 1 in 2674. At the time of the NBS result, 78.7% of the newborns with IMD were asymptomatic. There were two deaths reported: one newborn with methylmalonic acidemia cobalamin B type (MMACblB) died after the initial crisis and another case of carnitine palmitoyltransferase II deficiency (CPTII) died at 18 months of age after metabolic decompensation. The most common IMD noted were disorders of fatty acid oxidation metabolism (40%, 19 cases), closely followed by disorders of amino acid metabolism (38%, 18 cases), with carnitine uptake defect (19.1%, 9 cases) and citrullinemia type II (17%, 8 cases) being the two most common IMD picked up by the NBSIEM in Hong Kong. Out of the all the IMDs identified, 19.1% belonged to diverse ethnic groups. False negative cases were reported for citrullinemia type II and congenital adrenal hyperplasia during this period.

Efficacy of sodium hypochlorite (bleach) baths to reduce Staphylococcus aureus colonization in childhood onset moderate-to-severe eczema: A randomized, placebo-controlled cross-over trial.

BACKGROUND: Staphylococcus aureus (S. aureus) colonization/infection is an important factor in the pathophysiology of atopic dermatitis (AD). Clinical trials have demonstrated conflicting efficacy of diluted bleach baths in treating moderate-to-severe AD. We conducted a double-blinded, placebo-controlled (water), cross-over trial among patients with AD to investigate the efficacy of bleach baths in reducing S. aureus colonization and AD severity. METHOD: In this cross-over trial, 40 patients with moderate-to-severe AD were randomized to receive twice-weekly bleach and water baths, each for four consecutive weeks with a four-week wash-out period in between. Condition of S. aureus growth and SCORing Atopic Dermatitis index (SCORAD) were recorded at baseline and four-weekly intervals. Patients' blood was collected in first and second visits to investigate blood eosinophil count, serum levels of total IgE and specific IgEs against Staphylococcal enterotoxins A and B. In every visit, Children Dermatology Life Quality Index (CDLQI), skin hydration (SH), transepidermal water loss (TEWL) and usage frequency of prohibited medications (topical antibiotic, steroid and oral antihistamine) were recorded. RESULTS: All 40 patients completed the trial, but 14 were non-adherent. By intention-to-treat (ITT) approach, comparing with water baths, bleach baths conferred no significant efficacy in CDLQI, SH, TEWL, blood eosinophil count, total IgE and the two specific IgEs over four weeks. Water baths caused a greater reduction in affected area of SCORAD than bleach baths (-5.7 ± 15.4 for water vs. 0.6 ± 12.4 for bleach; p = 0.03) by ITT, and in objective SCORAD and affected area (p < 0.05) from per-protocol approach. Bleach baths reduced topical corticosteroid use (mean difference = 1.1 ± 2.6 days/week; p = 0.014) and topical antibiotic use (mean difference = 1.0 ± 2.8 days/week; p = 0.044) in within-group analysis. CONCLUSIONS: This study demonstrated that a four-week, twice-weekly regime of diluted bleach baths is not more useful than water baths in reducing S. aureus colonization/infection and improving AD. A longer treatment period is needed to evaluate if the short treatment duration was the main cause for the discrepancy in outcome from other bleach-bath trials. The usage of a portable bath tub obviates the problems associated with unavailability of bathing facilities in some families.

Efficacy and problems associated with using a wet-wrap garment for children with severe atopic dermatitis.

Use of a wet wrap for short-term relief of itch in children with severe atopic dermatitis has been advocated but objective determination of its efficacy has been difficult and many issues associated with its use are yet to be defined. We tested a new garment for the wet-wrap procedure in six patients with atopic dermatitis and objectively determined whether a 3-day usage could indeed relieve the distressing symptom of itch using a wrist motion monitor. The garments were effective in the short-term improvement of itching, severity of atopic dermatitis and quality of life in these children. Many issues associated with its use were identified. Clear instructions and individualized regimes (such as the choice of emollient, bathing ointment and topical corticosteroid) are essential for optimal outcome.

Inhalant allergens as risk factors for the development and severity of mild-to-moderate asthma in Hong Kong Chinese children.

Sensitization to aeroallergens has been found to be a dominant risk factor for asthma in population-based studies. Similar results in asthmatic children being managed in hospital-affiliated outpatient clinic have not been established. We therefore conducted a case-control study on asthmatic children attending a university hospital-based outpatient clinic to investigate the pattern of aeroallergen sensitization and to assess the correlation between asthma control and the presence of allergen-specific IgE-s. Asthmatic patients underwent a questionnaire assessment of their asthma control, skin prick tests (SPT) for allergen sensitization, and spirometric evaluation. Peripheral blood was collected from all subjects for in vitro serum specific IgE assay (RAST) to common aeroallergens. One hundred and seventy asthmatics (aged 9.8 +/- 3.7 years) and 57 age-matched control subjects were enrolled. Our patients had a median of two asthmatic attacks within 6 months prior to evaluation, and their median Disease Severity Score was 13. The median FEV1 in our asthmatic children was 98%, whereas serum logarithmic total IgE concentrations in patients and controls were 2.57 and 2.09, respectively (p < 0.0001). More than 85% of our asthmatic children were sensitized to house-dust mite (HDM), and sensitization to HDM and cat, as well as elevated serum total IgE concentration, was a significant risk factor for the development of asthma in this cohort. Several objective measures of asthma severity, as well as FEV1, correlated significantly with sensitization to HDM, pets, and cockroaches. In conclusion, indoor aeroallergens are one of the risk factors for the development and severity of mild-to-moderate asthma in Chinese children in Hong Kong.

Evaluation of an asthma management program for Chinese children with mild-to-moderate asthma in Hong Kong.

There is inconclusive evidence on the efficacy of outpatient clinic-based asthma management programs (AMP) in children. We hypothesized that an AMP based on key symptoms could improve outcome measures of asthma in Chinese children in Hong Kong. This study involved an outpatient clinic-based prospective cohort of Chinese children with asthma. Each patient received one 2-hr session of AMP which was conducted by a pediatric nurse specialist. Asthma outcomes were measured at baseline and at 6 and 12 months after completion of AMP. Demographic data, family history of allergic diseases, and changes in inhaled steroid therapy were also recorded. A total of 106 asthmatic children were enrolled, and they showed a significant decrease in nocturnal cough, wheezing attacks, and subjective assessment of severity at 6 and 12 months following participation in AMP, compared with their baseline status. Acute asthmatic attacks, unscheduled outpatient attendance, emergency room visits, school absenteeism, and number and duration of hospitalizations were also reduced during the follow-up period. Significantly more (21%) children were reported to use inhaled beclomethasone at the end of the study. Nocturnal cough, wheeze, and symptoms due to rhinitis improved significantly after AMP. In conclusion, our cohort of Chinese children with mild-to-moderate asthma used significantly more inhaled corticosteroids and practiced more measures to control house dust mites at the end of the 1-year treatment period. The main reason for better asthma control appeared to be related to the increased use of inhaled steroids, although some additional decrease in nocturnal cough, wheeze, and allergic rhinitis was found after adjusting for the use of inhaled corticosteroids.