Endocrine Disorders in Childhood Brain Tumour Survivors: A Single-Centre Study.

Objective: The study aims to determine the prevalence and risk factors for endocrine disorders in childhood brain tumour survivors. Methodology: Included in the study were 124 childhood brain tumour survivors aged 18 years old or younger with either stable disease or in remission, and had survived for at least 2 years after diagnosis. Demographic data (age at diagnosis, gender, ethnicity, socioeconomic status), clinical clues for endocrine disorders, anthropometrics (weight, height, midparental height), pubertal staging, tumour-related characteristics, treatment modalities and endocrine laboratory measurements at diagnosis and during follow up were obtained. Logistic regression was applied to evaluate risk factors for endocrine disorders in childhood brain tumour survivors. Results: The prevalence of endocrine disorders in childhood brain tumour survivors was 62.1%. The risk factors were high BMI [adjusted odds ratio (OR) 1.29, 95% CI: 1.12 to 1.5], high-risk site [adjusted odds ratio (OR) 7.15, 95% CI: 1.41 to 36.3] and chemotherapy [adjusted odds ratio (OR) 0.18, 95% CI: 0.05 to 0.62]. Conclusion: The prevalence of endocrine disorders in childhood brain tumour survivors in our centre was 62.1%. The significant risk factors were high BMI, tumour location (suprasellar and intrasellar) and chemotherapy.

Purine Nucleoside Phosphorylase Deficient Severe Combined Immunodeficiencies: A Case Report and Systematic Review (1975-2022).

Purine nucleoside phosphorylase deficient severe combined immunodeficiency (PNP SCID) is one of the rare autosomal recessive primary immunodeficiency disease, and the data on epidemiology and outcome are limited. We report the successful management of a child with PNP SCID and present a systematic literature review of published case reports, case series, and cohort studies on PNP SCID listed in PubMed, Web of Science, and Scopus from 1975 until March 2022. Forty-one articles were included from the 2432 articles retrieved and included 100 PNP SCID patients worldwide. Most patients presented with recurrent infections, hypogammaglobulinaemia, autoimmune manifestations, and neurological deficits. There were six reported cases of associated malignancies, mainly lymphomas. Twenty-two patients had undergone allogeneic hematopoietic stem cell transplantation with full donor chimerism seen mainly in those receiving matched sibling donors and/or conditioning chemotherapy before the transplant. This research provides a contemporary, comprehensive overview on clinical manifestations, epidemiology, genotype mutations, and transplant outcome of PNP SCID. These data highlight the importance of screening for PNP SCID in cases presented with recurrent infections, hypogammaglobulinaemia, and neurological deficits.

Health-Related Quality of Life of Patients and Families with Primary Immunodeficiency in Malaysia: a Cross-Sectional Study.

PURPOSE: Primary immunodeficiency disease (PID) affects various aspects of a patient's life. However, the health-related quality of life (HRQOL) of PID among Malaysian patients is poorly described. This study aimed to determine the quality of life of PID patients and their respective parents. METHOD: This cross-sectional study was performed from August 2020 to November 2020. Patients with PID and their families were invited to answer the PedsQL Malay version (4.0) questionnaire, the tool used to assess the HRQOL. A total of 41 families and 33 patients with PID answered the questionnaire. A comparison was performed with the previously published value of healthy Malaysian children. RESULT: Parents of respondents recorded a lower mean of total score than the parents of healthy children (67.26 ± 16.73 vs. 79.51 ± 11.90, p-value = 0.001, respectively). PID patients reported lower mean total score to healthy children (73.68 ± 16.38 vs. 79.51 ± 11.90, p-value = 0.04), including the psychosocial domain (71.67 ± 16.82 vs. 77.58 ± 12.63, p-value = 0.05) and school functioning (63.94 ± 20.87 vs. 80.00 ± 14.40, p-value = 0.007). No significant difference of reported HRQOL when comparing between subgroup of PID on immunoglobulin replacement therapy and those without immunoglobulin replacement (56.96 ± 23.58 vs. 65.83 ± 23.82, p-value 0.28). Socioeconomic status was found to be predictive of the lower total score of PedsQL in both parent and children reports. CONCLUSION: Parents and children with PID, especially those from middle socioeconomic status, have lower HRQOL and school function impairment than healthy children.

Psychological distress and coping strategies among the caretakers of children with transfusion-dependent thalassemia.

Introduction: Thalassemia is a chronic childhood disease that could result in psychological distress not only to the patients but also to their caretakers. Caretakers utilize different coping strategies to reduce stress and maintain a good quality of life. Objective: The study aims to measure the level of psychological distress among caretakers of transfusion-dependent thalassemia patients and identify coping strategies used by them, as well as examine factors related to both outcome measures. Methods: Sixty-eight (N = 68) caretakers of children with transfusion-dependent thalassemia agreed to participate in the study when they were approached during their visits to one of three major hospitals in Kelantan, Malaysia, for the children's medical treatment. They completed the Malay validated Depression Anxiety and Stress Scale 21 (DASS 21) and Brief-COPE self-report, in addition to a brief study proforma. Results: The majority of the participants reported feeling psychologically well, with no related scores in depression, anxiety, and stress sub-scales. The mean score for anxiety and stress sub-scales were 3.54 (SD = 3.54) and 4.25 (SD = 3.26) respectively. The median score for the depression sub-scale was 2.00 (IQR 4.00). The three mostly utilized coping strategies were religion, acceptance, and positive reframing. Those with depressed and anxious moods were found to engage more in negative coping strategies including substance abuse, denial, and behavioral disengagement. Being female, of younger age, employed, with higher educational level, and income status was found to significantly influence the adoption of positive reframing as a coping strategy. Conclusion: Psychological distress such as elevated anxiety and depression was found among a small portion of caretakers who have children with thalassemia whose treatment required blood transfusion. They were noted to apply more maladaptive coping strategies compared to their psychologically well counterparts.

Impact of Primary Immunodeficiency Diseases on the Life Experiences of Patients in Malaysia From the Caregivers' Perspective: A Qualitative Study.

Introduction: Primary immunodeficiency diseases (PIDs) are chronic diseases that affect the various aspects of a patient's life. However, the impact of living with PIDs is poorly described. Objective: This study aimed to explore the living experience challenges among the Malaysian caregivers of the patients with PID who underwent a follow-up in the Universiti Sains Malaysia or those registered members of the Malaysian PIDs Society. Methodology: The study was conducted from March 1 to May 30, 2021. The parents of children with PIDs were invited to participate for a semi-structured in-depth interview at the PID clinics in the USM. The estimated time of each interview was 30 min. The semi-structured interview was performed via a telephone call because of COVID-19 pandemic restrictions. The audio recording of each interview was transcribed and translated from Malay to English. Subsequently, a thematic analysis utilizing the ATLAS.ti software was performed. Results: The thematic analysis revealed five main themes, which are living with fear and anxiety with four sub-themes (sickness, psychological issues, fear of infections and hereditary issues), PID healthcare support struggles with four sub-themes (PID health system, treatment, diagnosis and financial issues), knowledge with two sub-themes (educational issues and disease understanding), social constraint with two sub-themes (relationships and social isolations) and coping with three sub-themes (acceptance, child health improvement and emotional hygiene). Conclusion: Living with fear and anxiety is a major theme impacting the living experiences of Malaysian patients with PIDs. Improvements in healthcare delivery and disease education are needed to ensure optimal quality of life.

Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries.

The Global Globin Network (GGN) is a project-wide initiative of the Human Variome/Global Variome Project (HVP) focusing on haemoglobinopathies to build the capacity for genomic diagnosis, clinical services, and research in low- and middle-income countries. At present, there is no framework to evaluate the improvement of care, treatment, and prevention of thalassaemia and other haemoglobinopathies globally, despite thalassaemia being one of the most common monogenic diseases worldwide. Here, we propose a universally applicable system for evaluating and grouping countries based on qualitative indicators according to the quality of care, treatment, and prevention of haemoglobinopathies. We also apply this system to GGN countries as proof of principle. To this end, qualitative indicators were extracted from the IthaMaps database of the ITHANET portal, which allowed four groups of countries (A, B, C, and D) to be defined based on major qualitative indicators, supported by minor qualitative indicators for countries with limited resource settings and by the overall haemoglobinopathy carrier frequency for the target countries of immigration. The proposed rubrics and accumulative scores will help analyse the performance and improvement of care, treatment, and prevention of haemoglobinopathies in the GGN and beyond. Our proposed criteria complement future data collection from GGN countries to help monitor the quality of services for haemoglobinopathies, provide ongoing estimates for services and epidemiology in GGN countries, and note the contribution of the GGN to a local and global reduction of disease burden.

Observational study on the current status of thalassaemia in Malaysia: a report from the Malaysian Thalassaemia Registry.

OBJECTIVE: Thalassaemia is the most common inherited blood disorder in Malaysia. This study aims to report the current status of thalassaemia in Malaysia and provide a comprehensive understanding of the disease through data obtained from the Malaysian Thalassaemia Registry. DESIGN: Data were extracted from the Malaysian Thalassaemia Registry, a web-based system accessible to enrolled users through www.mytalasemia.net.my. SETTING: The Malaysian Thalassaemia Registry data was recorded from reports obtained from 110 participating government and university hospitals in Malaysia. PARTICIPANTS: The patients were those attending the 110 participating hospitals for thalassaemia treatment. INTERVENTION: Data were collected from the Malaysian Thalassaemia Registry from 2007 until the fourth quarter of 2018. PRIMARY OUTCOME MEASURE: 7984 out of 8681 patients with thalassaemia registered in the Malaysian Thalassaemia Registry were reported alive. RESULTS: Majority of the patients were reported in the state of Sabah (22.72%); the largest age group affected was 5.0-24.9 years old (64.45%); the largest ethnic group involved was Malay (63.95%); and the major diagnosis was haemoglobin E/ß-thalassaemia (34.37%). From the 7984 patients, 56.73% were on regular blood transfusions and 61.72% were on chelation therapy. A small fraction (14.23%) has undergone splenectomy, while the percentage of patients with severe iron overload (serum ferritin ≥5000 µg/L) reduced over time. However, cardiac complications are still the main cause of death in patients with thalassaemia. CONCLUSION: Data gathered into the registry can be used to understand the progression of the disorder, to monitor iron overload management and to improve the outcomes of treatment, to enhance preventive strategies, reduce healthcare burden and improve the quality of life. Sustainability of the Malaysian Thalassaemia Registry is important for surveillance of thalassaemia management in the country and help the national health authorities to develop more effective policies.

Detection of Strongyloides stercoralis infection among cancer patients in a major hospital in Kelantan, Malaysia.

INTRODUCTION: Strongyloidiasis is one of the most commonly neglected but clinically important parasitic infections worldwide, especially among immunocompromised patients. Evidence of infection among immunocompromised patients in Malaysia is, however, lacking. In this study, microscopy, real-time polymerase chain reaction (PCR) and enzyme-linked immunosorbent assays (ELISAs) were used to detect Strongyloides stercoralis (S. stercoralis) infection among cancer patients in a Malaysian hospital. METHODS: A total of 192 stool and serum samples were collected from cancer patients who were receiving chemotherapy with or without steroid treatment at a hospital in northeastern Malaysia. Stool samples were examined for S. stercoralis using parasitological methods and real-time PCR. Serology by ELISA was performed to detect parasite-specific immunoglobulin G (IgG), IgG4 and immunoglobulin E (IgE) antibodies. For comparison, IgG4- and IgG-ELISAs were also performed on the sera of 150 healthy individuals from the same area. RESULTS: Of the 192 samples examined, 1 (0.5%) sample was positive for S. stercoralis by microscopy, 3 (1.6%) by real-time PCR, 8 (4.2%) by IgG-ELISA, 6 (3.1%) by IgG4-ELISA, and none was positive by IgE-ELISA. In comparison, healthy blood donors had significantly lower prevalence of parasite-specific IgG (2.67%, p < 0.05) and IgG4 (2.67%, p < 0.05) responses. CONCLUSION: This study showed that laboratory testing may be considered as a diagnostic investigation for S. stercoralis among immunocompromised cancer patients.

The impact of children with disabilities on parent health-related quality of life and family functioning in Kelantan and its associated factors.

OBJECTIVES: Caring for children with disabilities brings about a significant impact on the parents and families. The purposes of this study were to determine the impact of having children with disabilities on parents' health-related quality of life (HRQOL), family functioning, and total family impact and to identify the associated factors. METHOD: A total of 425 parents/caregivers of children with disabilities who were registered to community-based rehabilitation centers in 5 districts in Kelantan, Malaysia, participated in this study. The Malay version of PedsQL Family Impact Module was used as research instrument. General linear regression was applied to analyze the association between family impact scores (Total Impact, Parent HRQOL Summary, and Family Functioning Summary) and study factors using Stata/SE 11 software. RESULTS: The mean (SD) Total Impact Score and Parent HRQOL Summary Score of the parents/caregivers was 75.1 (16.85) and 75.0 (18.74) respectively, and the median (IQR) of Family Functioning Summary Score was 84.4 (28.13). Mothers, non-Malays, and widowed parents/caregivers, parents/caregivers having male children with disabilities, and children with more complex disability had significantly lower parent HRQOL and family functioning. CONCLUSIONS: Both parents/caregivers' characteristics and children's characteristics contributed to family impact in local setting. Results of this study emphasize the importance of the whole family involvement as the focus of services and supports by health care providers.

Developmental haemostasis for factor V and factor VIII levels in neonates: a case report of spontaneous cephalhaematoma.

Combined factor V and VIII deficiency is a rare bleeding disorder. Diagnosis of congenital coagulation factor deficiency in a neonate is challenging due to "immaturity" of the hemostatic system. A 2-day-old baby girl presented with spontaneous cephalhematoma. She was found to have persistent abnormal coagulation tests and finally diagnosed as combined factor V and VIII deficiency. Interestingly, factor V and factor VIII in developmental hemostasis are quite similar with adult levels in newborn, and hence early diagnosis is possible. An investigation to detect underlying hemostatic defects is recommended in newborns with spontaneous cephalhematoma.

Infantile fibrosarcoma of the penis in a 2-year-old boy.

Fibrosarcoma is rare in the pediatric age group. It generally involves the extremities and the trunk but rarely involves the genital area. We report a case of a large fungating infantile fibrosarcoma of the penis in a 2-year-old Malay boy. Partial recovery of the penile structure was achieved after chemotherapy. The difficulty in managing the social and surgical aspect of this case is discussed in our report. To the best of our knowledge, this is the first case report of infantile fibrosarcoma involving the penis in an Asian region.

A Preliminary Study on the Reliability of the Malay Version of PedsQL™ Family Impact Module among Caregivers of Children with Disabilities in Kelantan, Malaysia.

BACKGROUND: No previous study has assessed the impact of childhood disability on parents and family in the context of Malaysia, and no instrument to measure this impact has previously been available. The objective of this cross-sectional study was to determine the reliability of a Malay version of the PedsQL™ Family Impact Module that measures the impact of children with disabilities (CWD) on their parents and family in a Malaysian context. METHODS: The study was conducted in 2009. The questionnaire was translated forward and backward before it was administered to 44 caregivers of CWD to determine the internal consistency reliability. The test for Cronbach's alpha was performed. RESULTS: The internal consistency reliability was good. The Cronbach's alpha for all domains was above 0.7, ranging from 0.73 to 0.895. CONCLUSION: The Malay version of the PedsQL™ Family Impact Module showed evidence of good internal consistency reliability. However, future studies with a larger sample size are necessary before the module can be recommended as a tool to measure the impact of disability on Malay-speaking Malaysian families.

Piloting a psycho-education program for parents of pediatric cancer patients in Malaysia.

OBJECTIVE: To evaluate a psycho-educational program (PeP) for parents of children with cancer (PoCwC) in Malaysia. METHODS: Seventy-nine parents were invited to be either in an intervention (n=41) or a control group (n=38). Baseline assessment took place upon agreement of participation. Short-term effects were measured four weeks after the intervention. Control parents received standard care. Intervention parents received, in addition to standard care, 4 x 50 min sessions of information on childhood cancer and coping strategies. RESULTS: Repeated measures of ANOVAs revealed increased knowledge about cancer (p=0.01) in the intervention parents compared with standard care. Intervention parents reported reduced anxiety and increased activities with children after the program; however, differences were not significant. CONCLUSIONS: This PeP, the first of its kind in Malaysia, has significantly increased levels of knowledge among parents of seriously ill children which may point towards the potential for these services to increase coping in Malaysian PoCwC.