Clinical and demographic pattern of chronic granulomatous disease (CGD) from a multicenter perspective: Malaysia's experience over 26 years.

BACKGROUND: A retrospective review of clinical manifestations and demographic pattern of patients diagnosed as chronic granulomatous disease (CGD) from 7 hospitals in Malaysia. An analysis of the available database would establish clinical characteristics, diagnoses and outcome including microbiologic pattern. Studying the demography allows us to document the occurrence of CGD amongst multiethnic groups and its geographical distribution for Malaysia. METHODS: Data from the Malaysia Primary Immunodeficiency Network (MyPIN) with cases of CGD diagnosed from 1991 until 2016 were collated and analysed. RESULTS: Twenty patients were diagnosed as CGD. Males (N = 13, 65%) outnumber females (N = 7, 35%). CGD is commonest amongst the Malays (65%) followed by the Chinese (15.0%), Indians (10.0%) and natives of Borneo (10.0%), reflecting the ethnic composition of the country. The mean age of diagnosis was 3.7 years. There was a positive family history in 40% of the cases. Abscess was the main presenting feature in 16 patients (80%) with one involving the brain. Pneumonia occurred in 10 (50%) and one with complicated bronchiectasis. Catalase-positive bacteria were the most commonly isolated pathogen with Chromobacterium violaceum predominating (N = 5, 25%) with consequent high mortality (N = 4, 80%). All CGD patients with C. violaceum infection displayed CD4 + (T helper cells) lymphopenia. CONCLUSION: This study has shown CGD occurs in the major ethnic groups of Malaysia. To the best of our knowledge, this is the first and the largest series of chronic granulomatous disease in South East Asia which may be reflective of similar clinical pattern in the region. C. violaceum infection is associated with a higher mortality in CGD patients in Malaysia. All the CGD patients with C. violaceum infection in this patient series displayed CD4 + (T helper) lymphopenia. We recorded rare clinical manifestation of CGD viz. brain abscess and bronchiectasis.

Parents' Experiences and Perspectives Toward Tuberculosis Treatment Success Among Children in Malaysia: A Qualitative Study.

Introduction: The trends of tuberculosis (TB) treatment success rate among children in Malaysia plateaued at 90% from 2014 to 2017. Malaysia sets a higher treatment success target of 95% to be achieved in line with an affordable, accessible, and holistic approach in managing TB among children. Objective: This study aims to explore the parents' experiences and perspectives toward achieving treatment success among children who were diagnosed with TB in two districts in Selangor state, Malaysia. Methods: The study was conducted using phenomenology study design via an in-depth interview of 15 mothers who were purposively sampled from the list of pediatric TB cases in the MyTB version 2.1 database in Klang and Petaling Districts of Selangor state. The R-based qualitative data analysis package of R version 0.2-8 was used to perform the thematic analysis. Results: Two main themes were identified from this study. The first theme was trust toward the healthcare services with the subthemes of acceptance, self-efficacy, holistic care, and perceived benefits. The second theme was the motivation to take or continue medication. The subthemes were support from family, healthcare workers' (HCWs') support, the convenience of healthcare services, community support, personal strength, and child's character. Conclusion: TB treatment success for children can be achieved when parents develop trust in healthcare services and have strong motivational factors to remain steadfast in achieving a successful treatment goal. Psychosocial support should be provided to the primary caregiver who faced any difficulty, while good relationships between parents and HCWs should be maintained. These results will inform the TB program managers to strengthen the holistic approach and identify the motivational factors among parents of children with TB disease.

Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study.

BACKGROUND: Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. It results in accumulation of the glycosaminoglycans, keratan sulfate and chondroitin-6-sulfate, leading to skeletal and other systemic impairments. Data on MPS IVA in Asian populations are scarce. METHODS: This is a multicentre descriptive case series of 21 patients comprising all MPS IVA patients in Malaysia. Mutational analysis was performed by PCR and Sanger sequencing of the GALNS gene in 17 patients. RESULTS: The patients (15 females and 6 males) had a mean age (± SD) of 15.5 (± 8.1) years. Mean age at symptom onset was 2.6 (± 2.1) years and at confirmed diagnosis was 6.9 (± 4.5) years. The study cohort included patients from all the main ethnic groups in Malaysia - 57% Malay, 29% Chinese and 14% Indian. Common presenting symptoms included pectus carinatum (57%) and genu valgum (43%). Eight patients (38%) had undergone surgery, most commonly knee surgeries (29%) and cervical spine decompression (24%). Patients had limited endurance with lower mean walking distances with increasing age. GALNS gene analysis identified 18 distinct mutations comprising 13 missense, three nonsense, one small deletion and one splice site mutation. Of these, eight were novel mutations (Tyr133Ser, Glu158Valfs*12, Gly168*, Gly168Val, Trp184*, Leu271Pro, Glu320Lys, Leu508Pro). Mutations in exons 1, 5 and 9 accounted for 51% of the mutant alleles identified. CONCLUSIONS: All the MPS IVA patients in this study had clinical impairments. A better understanding of the natural history and the clinical and genetic spectrum of MPS IVA in this population may assist early diagnosis, improve management and permit timely genetic counselling and prenatal diagnosis.

Case series of foreign body aspiration in Paediatric Institute, Hospital Kuala Lumpur.

A retrospective case series was conducted to determine the clinical characteristics and bronchoscopy findings of children with foreign body aspiration in Paediatric Institute, Hospital Kuala Lumpur. Ten boys and two girls were included (range 2-177 months; median 26 months old). They commonly presented with cough (12/100%) and difficulty in breathing (9/75%). All patients had unilateral auscultatory findings and the commonest radiographic findings were unilateral hyperinflation (7/58.3%). The majority of foreign bodies removed was organic (8/66.6%) and more frequently found in the left bronchial tree (7/58.3%). Major complications were pneumonia (11/91.6%) and airway oedema (11/ 91.6%). Eight patients had delayed diagnosis due to parents unawareness (6/50%) and missed diagnosis (2/16.7%).

Asthma control in the Asia-Pacific region: the Asthma Insights and Reality in Asia-Pacific Study.

BACKGROUND: Few data on asthma management are available for the Asia-Pacific region. OBJECTIVE: This study examined asthma symptoms, health care use, and management in the Asia-Pacific region. METHODS: We performed a cross-sectional survey, followed by administration of a questionnaire in a face-to-face setting in the respondents' homes in their language of choice. Urban centers in 8 areas were surveyed: China, Hong Kong, Korea, Malaysia, The Philippines, Singapore, Taiwan, and Vietnam. RESULTS: A population sample of 3207 respondents with physician-diagnosed asthma was identified by screening 108,360 households. Daytime asthma symptoms were reported by 51.4% of respondents, and 44.3% reported sleep disturbance caused by asthma in the preceding 4 weeks. At least 2 in every 5 respondents (43.6%) had been hospitalized, attended a hospital emergency department, or made unscheduled emergency visits to other health care facilities for treatment of asthma during the previous 12 months. Overall, 15.3% of respondents reported that they had required admission to the hospital for asthma treatment. Asthma severity correlated with the frequencies of hospitalizations and emergency visits for asthma in the past year. Even in those patients with severe persistent asthma, 34.3% regarded their disease as being well or completely controlled. Current use of an inhaled corticosteroid was reported by only 13.6% of respondents, and 56.3% used quick-relief bronchodilators. Absence from school and work in the past year was reported by 36.5% of children and 26.5% of adults. CONCLUSION: As reported for other regions, current levels of asthma control in the Asia-Pacific region fall markedly short of goals specified in international guidelines for asthma management.