Knowledge and practice of childhood immunisation among parents in Kelantan, Malaysia: A cross-sectional study.

Introduction: Parents are key decision-makers in the immunisation practice and compliance of children. This study aimed to determine the knowledge and practice of immunisation among parents in Kelantan, Malaysia, and their associated factors. Methods: A cross-sectional study was conducted using a validated online questionnaire from May to June 2021. An invitation was distributed to parents attending a university hospital and extended families of staff through online platforms. A total of 311 parents participated in the study. The questionnaire consisted of 10 questions each on knowledge and practice and three questions on vaccination status. Descriptive analysis was performed. The associations between the sociodemographic characteristics and knowledge and practice scores were determined using the chi-square test, and predictive factors were identified using logistic regression analysis. Results: Most respondents were Malay (94.2%), Muslim (94.5%), women (79.7%) and married (96.1%). The median score for immunisation knowledge and practice was 8 (interquartile range [IQR]=2) and 7 (IQR=3), respectively. Multiple logistic regression revealed that parents who were unmarried or single, less educated, and had lower incomes were predicted to have poor knowledge of childhood vaccination (P<0.05). Conversely, those living outside Kota Bharu, less educated, and younger parents were predicted to have poor vaccination practice of childhood vaccination (P<0.05). Most respondents (97.8%) indicated completing their children's vaccination schedule. Conclusion: Parental education and household income are associated with immunisation knowledge and practice. Improving access to information about childhood vaccination among targeted groups may further boost immunization coverage.

Transition practice for primary immunodeficiency diseases in Southeast Asia: a regional survey.

Introduction: With increased diagnostic capabilities and treatment modalities in the field of primary immunodeficiencies (PID), many pediatric patients survive beyond childhood and experience a change of care to the adult-oriented healthcare system. Unfortunately, the transition pathways for PID are less clearly defined, resulting in deterioration of quality of care in adulthood. Hence, this is the first regional study to address PID clinicians' opinions on practices and challenges of transition care in 7 Southeast Asia (SEA) countries. Methods: We adopted a cross-sectional study design through an online survey platform to enquire opinions of transition practices from expert representatives in 7 SEA countries. Results: Regionally, 3 out 7 countries reported having no practice of transition care. Among cited challenges were reluctant adaptation by patients and caregivers to unfamiliarized adult healthcare systems, inadequate ratio of adult immunologists to patients and lack of facilities for transfer. Discussion and conclusion: Our study provides evidence to advocate policy makers on the importance of standardized integration of transition practice towards betterment of transiting PID patients into adulthood.

Practise of Immunoglobulin Replacement Therapy in Primary and Secondary Immunodeficiencies: A Single Centre Experience from Malaysia.

Background: Intravenous immunoglobulin (IVIG) replacement therapy is increasingly in demand. This study focused on the characteristics of IVIG usage and associated factors toward the frequency status of IVIG among patients in Hospital Kuala Lumpur. Methods: A retrospective cross-sectional study was performed on patients who received IVIG in Hospital Kuala Lumpur. Data were extracted from the request forms for IVIG recorded in the Pharmacy Department from January 2018 until December 2019. Chi-squared test and t-test analysis were used for statistical analysis, and a P-value of < 0.05 was considered significant. Results: A total of 482 patients received IVIG in Hospital Kuala Lumpur. There were 243 (50.4%) females and 228 (47.3%) males with median age of the patients was 27 years old. The highest indications for IVIG among all patients were hypogammaglobulinemia and other deficiency states in 127 patients (26.3%). The most common indication for one-off treatment in adults was hypogammaglobulinemia and other deficiency states, 35%; whereas in paediatrics, it was Kawasaki disease, 20.3%. The highest indication for regular therapy among adult patients was chronic inflammatory demyelinating polyneuropathy (23.4%), while in paediatrics it was sepsis (31.1%). The clinical category was associated with the frequency status of IVIG usage in both adult and paediatric cohorts with P = 0.004 and P = 0.017, respectively. Conclusion: There were significant differences between the indication of one-off treatment and regular therapy among adult and paediatric patients. A national guideline on the prescription of IVIG for patients is instantly needed to help clinicians in prescribing IVIG appropriately.

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.

Knowledge, awareness, and perception on genetic testing for primary immunodeficiency disease among parents in Malaysia: a qualitative study.

Background: Primary Immunodeficiency Disease (PID), also known as Inborn Errors of Immunity (IEI), comprises a group of rare genetic disorders that impair the body's immune responses. These conditions result from monogenic germline mutations that affect the function of genes governing the innate and adaptive immune system. Therefore, individuals with PID are more susceptible to infectious diseases, allergies, and autoimmune and autoinflammatory conditions. The prevalence of PID has been on the rise, with the number of classified diseases reaching 404, and 430 genetic defects reported to cause these conditions. However, in Malaysia, genetic testing for PID is currently limited and needs to be outsourced to overseas laboratories, posing financial challenges for families. Moreover, limited research has focused on the knowledge and awareness of genetic testing among parents of children with PID in Malaysia. This study aims to address this gap and provide valuable insights into the knowledge, awareness, and perception of genetic testing among this specific population. Method: This qualitative cross-sectional study utilised online open-ended, semi-structured focus group interviews to explore the perceptions and experiences of parents of children with Primary Immunodeficiency (PID). Participants were recruited through convenience sampling from the Malaysian Patient Organisation for Primary Immunodeficiencies (MyPOPI), a non-governmental organisation dedicated to providing support and raising awareness about PID. The study spanned from May 2023 to July 2023 and included participants from diverse regions of Malaysia who had undergone different diagnostic journeys in various hospitals. Result: The focus group discussions yielded 11 sub-themes that highlighted the experiences, understanding and challenges of the participants regarding genetic testing based on the semi-structured questions. These sub-themes were then grouped into four main themes that are awareness and understanding of genetic testing, the journey towards diagnosis and treatment, emotional impact and psychological factors, and the importance of medical experts in diagnosing and managing PID, as well as public perception and awareness. Conclusion: In conclusion, this study highlights the diverse knowledge, awareness, and perception surrounding genetic testing for PID. Factors such as access to services, family history, and personal circumstances shape individuals' understanding of genetic testing. The importance of healthcare professionals, along with the need for improved accessibility and targeted communication strategies, is underscored to enhance understanding and reduce stigma surrounding genetic testing for rare diseases like PID.

Evaluation of a motorised patient transfer device based on perceived workload, technology acceptance, and emotional states.

PURPOSE: The high prevalence of musculoskeletal disorders (MSDs) among healthcare workers is partly attributed to the low adoption of patient transfer assistive devices. This study aimed to evaluate the nurses' perceived workload, technology acceptance, and emotional states during the use of the sliding board (SB) and mechanical intervention in the form of a Motorised Patient Transfer Device (MPTD). METHODS: The SB and MPTD activities were performed by seven nurses on a simulated patient. The nurses' facial expressions were recorded during the trial. The NASA Task Load Index and technology acceptance questionnaire were also assessed. RESULTS: The MPTD significantly reduced the mean overall NASA-TLX score by 68.7% (p = 0.004) and increased the overall acceptance score (median = 8.30) by 21.2% (p = 0.016) when compared to the SB (median = 6.85). All the subjects reported positive feelings towards MPTD. However, facial expression analysis showed that the nurses had a significantly higher peak density of fear while using MPTD (p = 0.016). Besides, there was no improvement in the negative valence and contempt emotion compared to the SB. CONCLUSION: Overall, nurses showed positive perceptions and acceptance of MPTD even when they experienced negative emotions.IMPLICATIONS FOR REHABILITATIONThe Motorised Patient Transfer Device (MPTD) reduced the perceived workload of nurses and showed a higher acceptance level compared to the commonly used baseline device (SB).Factors that attributed to the nurses' negative emotions can be used to improve technology and patient transfer processes.More training should be given to familiarise the health practitioners with the new assistive device to reduce their fear of technology.

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.

Psychosocial impact of COVID-19 pandemic on Malaysian families: a cross-sectional study.

OBJECTIVE: To investigate the psychosocial impact of COVID-19 on Malaysian families. DESIGN: A cross-sectional study performed using an anonymous online questionnaire distributed through social media, email and the Department of Social Welfare. SETTING: Malaysian families were invited to answer the questionnaires. The sampling was performed between 12 May 2020 and 9 June 2020. INTERVENTION: The psychological impact was assessed using the Impact of Event Scale-Revised (IES-R) and Children's Revised Impact of Event Scale (CRIES). The mental health status was assessed using the Depression, Anxiety and Stress Scale (DASS) 21. MAIN OUTCOME MEASURE: (1) Psychological impact on Malaysian families. (2) Prevalence of mental health status of Malaysian families during COVID-19 pandemic. RESULT: A total of 409 Malaysian families have responded (409 parents and 348 children), 154 respondents (38%) reported high psychological impact (score 14) for psychological construct and 189 respondents (46%) reported high psychological impact (score 6) for behavioural construct. A significantly higher proportion of respondents with not permanent employment status of the family lead reported high psychological impact. The prevalence of anxiety reported from family respondents was 23%. Forty-five children answered the DASS-21 questionnaire; 28.5% reported anxiety, 31.4% reported depression and 13.3% reported stress. The job security status of the family lead was found to be the predictive factor for the mean total IES-R score (psychological construct) and ethnicity for mean total CRIES-8 and CRIES-13. CONCLUSION: Rates of depression and anxiety during the COVID-19 pandemic were high. Findings suggest that urgent measures to ensure job security among Malaysian families are important to reduce the impact of the COVID-19 pandemic on psychosocial and mental health outcomes.

Systematic Review of Primary Immunodeficiency Diseases in Malaysia: 1979-2020.

Introduction: Primary immunodeficiency diseases (PIDs) are under-reported in Malaysia. The actual disease frequency of PID in this country is unknown due to the absence of a national patient registry for PID. Objective: This systematic review aimed to determine the prevalence rates of PID cases diagnosed and published in Malaysia from 1st of January 1979 until 1st of March 2020. It also aimed to describe the various types of PIDs reported in Malaysia. Method: Following the development of a comprehensive search strategy, all published literature of PID cases from Malaysia was identified and collated. All cases that fulfilled the International Union of Immunological Societies (IUIS) classification diagnosis were included in the systematic review. Data were retrieved and collated into a proforma. Results: A total of 4,838 articles were identified and screened, with 34 publications and 119 patients fulfilling the criteria and being included in the systematic review. The prevalence rate was 0.37 per 100,000 population. In accordance with the IUIS, the distribution of diagnostic classifications was immunodeficiencies affecting cellular and humoral immunities (36 patients, 30.3%), combined immunodeficiencies with associated or syndromic features (21 patients, 17.6%), predominant antibody deficiencies (24 patients, 20.2%), diseases of immune dysregulation (13 patients, 10.9%), congenital defects in phagocyte number or function (20 patients, 16.8%), defects in intrinsic and innate immunity (4 patients, 3.4%), and autoinflammatory disorders (1 patient, 0.8%). Parental consanguinity was 2.5%. Thirteen different gene mutations were available in 21.8% of the cases. Conclusion: PIDs are underdiagnosed and under-reported in Malaysia. Developing PID healthcare and a national patient registry is much needed to enhance the outcome of PID patient care.

Use of reflective materials during phototherapy for newborn infants with unconjugated hyperbilirubinaemia.

BACKGROUND: Phototherapy is a well-established effective therapy for treating babies with significant neonatal jaundice. Studies have shown that increasing light intensity will increase its efficiency. A potentially inexpensive and easy way of increasing the intensity of light on the body of the infant may be to hang reflective materials from the sides of phototherapy units. OBJECTIVES: To assess the effects of reflective materials in combination with phototherapy compared with phototherapy alone for unconjugated hyperbilirubinaemia in neonates. SEARCH METHODS: We used the standard search strategy of Cochrane Neonatal to search the Cochrane Central Register of Controlled Trials (CENTRAL; 2019, Issue 11), in the Cochrane Library; Ovid MEDLINE(R) and Epub Ahead of Print, In-Process & Other Non-Indexed Citations, Daily and Versions(R); and the Cumulative Index of Nursing and Allied Health Literature (CINAHL), on 1 November 2019. We also searched clinical trials databases and the reference lists of retrieved articles for randomised controlled trials and quasi-randomised trials. SELECTION CRITERIA: We included randomised and quasi-randomised controlled trials if the participants, who were term or preterm infants, received phototherapy with curtains made of reflective materials of any type in the treatment arm, and if those in the comparison arm received similar phototherapy without curtains or other intensified phototherapy, such as a double bank of lights. DATA COLLECTION AND ANALYSIS: We used standard methodological procedures expected by Cochrane. We used the GRADE approach to assess the certainty of evidence. MAIN RESULTS: Of 15 studies identified, we included 12 (1288 babies) in the review - 11 comparing phototherapy with reflective materials and phototherapy alone, and one comparing a single phototherapy light bank with reflective materials with double phototherapy. All reflective materials consisted of curtains on three or four sides of the cot and were made of white plastic (five studies), white linen (two studies), or aluminium (three studies); materials were not specified in two studies. Only 11 studies (10 comparing reflective materials versus none and one comparing reflective curtains and a single bank of lights with a double (above and below) phototherapy unit) provided sufficient data to be included in the meta-analysis. Two excluded studies used the reflective materials in a way that did not meet our inclusion criteria, and we excluded one study because it compared four different phototherapy interventions not including reflective materials. The risk of bias of included studies was generally low, but all studies had high risk of performance bias due to lack of blinding of the intervention. Three studies (281 participants) reported a decline in serum bilirubin (SB) (µmol/L) at four to eight hours (mean difference (MD) -14.61, 95% confidence interval (CI) -19.80 to -9.42; I² = 57%; moderate-certainty evidence). Nine studies (893 participants) reported a decline in SB over 24 hours and showed a faster decline in SB in the intervention group, but heterogeneity (I² = 97%) was too substantial to permit a meaningful estimate of the actual effect size (very low-certainty evidence). Subgroup analysis by type of reflective material used did not explain the heterogeneity. Exchange transfusion was reported by two studies; both reported none in either group. Four studies (466 participants) reported the mean duration of phototherapy, and in each of these studies, it was reduced in the intervention group but there was substantial heterogeneity (I² = 88%), precluding meaningful meta-analysis of data. The only two studies that reported the mean duration of hospital stay in hours showed a meaningful reduction (MD -41.08, 95% CI -45.92 to -36.25; I² = 0; moderate-certainty evidence). No studies reported costs of the intervention, parental or medical staff satisfaction, breastfeeding outcomes, or neurodevelopmental follow-up. The only study that compared use of curtains with double phototherapy reported similar results for both groups. Studies that monitored adverse events did not report increased adverse events related to the use of curtains, including acute life-threatening events, but other rarer side effects could not be excluded. AUTHORS' CONCLUSIONS: Moderate-certainty evidence shows that the use of reflective curtains during phototherapy may result in greater decline in SB. Very low-certainty evidence suggests that the duration of phototherapy is reduced, and moderate-certainty evidence shows that the duration of hospital stay is also reduced. Available evidence does not show any increase in adverse events, but further studies are needed.

Long-Term Health Outcome and Quality of Life Post-HSCT for IL7Rα-, Artemis-, RAG1- and RAG2-Deficient Severe Combined Immunodeficiency: a Single Center Report.

Hematopoietic stem cell transplantation (HSCT) is curative for severe combined immunodeficiency (SCID), but data on long-term impact of pre-HSCT chemotherapy, immune reconstitution and quality of life (QoL) of specific SCID genotypes are limited. We evaluated the long-term immune-reconstitution, health outcome and QoL in IL7Rα SCID, Artemis and RAG1 and 2 SCID survivors > 2 years post-HSCT in our center. Clinical data and immune reconstitution parameters were collated, and patients/families answered PedsQL generic core scale v4.0 questionnaires. Thirty-nine patients with a diagnosis of IL7Rα SCID (17 patients), Artemis SCID (8 patients) and RAG1/2 SCID (13 patients) had undergone HSCT with median age at last follow up for IL7Rα SCID, 14 years (range 4-27) and Artemis and RAG1/2 SCID, 10 years (range 2-18). Many patients have ongoing medical issues at latest follow-up [IL7Rα (73%), Artemis (85%), RAG1/2 (55%)]. Artemis SCID patients experienced more sequela than RAG1/2 SCID. Conditioned recipients with Artemis and RAG SCID had more CD4+ naïve lymphocytes compared to unconditioned recipients. All patients except those of IL7Rα SCID reported lower QoL; further subset group analysis showed parents and Artemis and RAG1/2 survivors without ongoing medical issues reported normal QoL. Conditioned recipients have superior long-term thymopoiesis, chimerism and immunoglobulin-independence. QoL was normal in those who did not have medical issues at long-term follow-up.

T-cell receptor αß+ and CD19+ cell-depleted haploidentical and mismatched hematopoietic stem cell transplantation in primary immune deficiency.

BACKGROUND: Allogeneic hematopoietic stem cell transplantation (HSCT) is used as a therapeutic approach for primary immunodeficiencies (PIDs). The best outcomes have been achieved with HLA-matched donors, but when a matched donor is not available, a haploidentical or mismatched unrelated donor (mMUD) can be useful. Various strategies are used to mitigate the risk of graft-versus-host disease (GvHD) and rejection associated with such transplants. OBJECTIVE: We sought to evaluate the outcomes of haploidentical or mMUD HSCT after depleting GvHD-causing T-cell receptor (TCR) αß CD3+ cells from the graft. METHODS: CD3+TCRαß+/CD19+ depleted grafts were given in conditioned (except 3) children with PIDs. Treosulfan (busulfan in 1 patient), fludarabine, thiotepa, and anti-thymocyte globulin or alemtuzumab conditioning were used in 77% of cases, and all but 4 received GvHD prophylaxis. RESULTS: Twenty-five patients with 12 types of PIDs received 26 HSCTs. Three underwent transplantation for refractory GvHD that developed after the first cord transplantation. At a median follow-up of 20.8 months (range, 5 month-3.3 years), 21 of 25 patients survived and were cured of underlying immunodeficiency. Overall and event-free survival at 3 years were 83.9% and 80.4%, respectively. Cumulative incidence of grade II to IV acute GvHD was 22% ± 8.7%. No case of visceral or chronic GvHD was seen. Cumulative incidences of graft failure, cytomegalovirus, and/or adenoviral infections and transplant-related mortality at 1 year were 4.2% ± 4.1%, 58.8% ± 9.8%, and 16.1% ± 7.4%, respectively. Patients undergoing transplantation with systemic viral infections had poor survival in comparison with those with absent or resolved infections (33.3% vs 100%). CONCLUSION: CD3+TCRαß+ and CD19+ cell-depleted haploidentical or mMUD HSCT is a practical and viable alternative for children with a range of PIDs.

Treosulfan and Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Children with Primary Immunodeficiency: UK Experience.

We previously published results for 70 children who received conditioning with treosulfan and cyclophosphamide (n = 30) or fludarabine (n = 40) before undergoing hematopoietic stem cell transplantation (HSCT) for primary immunodeficiency (PID). Toxicity was lower and T cell chimerism was better in the patients receiving fludarabine, but cohort numbers were relatively small and follow-up was short. Here we report outcomes of 160 children who received homogeneous conditioning with treosulfan, fludarabine, and, in most cases, alemtuzumab (n = 124). The median age at transplantation was 1.36 years (range, .09 to 18.25 years). Donors included 73 matched unrelated, 54 1 to 3 antigen-mismatched unrelated, 12 matched sibling, 17 other matched family, and 4 haploidentical donors. Stem cell source was peripheral blood stem cells (PBSCs) in 70, bone marrow in 49, and cord blood in 41. Median duration of follow-up was 4.3 years (range, .8 to 9.4 years). Overall survival was 83%. No patients had veno-occlusive disease. Seventy-four patients (46%) had acute GVHD, but only 14 (9%) greater than grade II. Four patients underwent successful retransplantation for graft loss or poor immune reconstitution. Another patient experienced graft rejection and died. There was no association between T cell chimerism >95% and stem cell source, but a significant association was seen between myeloid chimerism >95% and use of PBSCs without an increased risk of significant GVHD compared with other sources. All 11 patients with severe combined immunodeficiency diagnosed at birth were alive at up to 8.7 years of follow-up. Long-term studies are needed to determine late gonadotoxic effects, and pharmacokinetic studies are needed to identify whether specific targeting is advantageous. The combination of treosulfan, fludarabine, and alemtuzumab is associated with excellent results in HSCT for PID.

Long-term outcome of hematopoietic stem cell transplantation for IL2RG/JAK3 SCID: a cohort report.

Hematopoietic stem cell transplantation (HSCT) cures the T-lymphocyte, B-lymphocyte, and natural killer (NK)-cell differentiation defect in interleukin-2 γ-chain receptor (IL2RG)/JAK3 severe combined immunodeficiency (SCID). We evaluated long-term clinical features, longitudinal immunoreconstitution, donor chimerism, and quality of life (QoL) of IL2RG/JAK3 SCID patients >2 years post-HSCT at our center. Clinical data were collated and patients/families answered PedsQL Generic Core Scale v4.0 questionnaires. We performed longitudinal analyses of CD3+, CD4+ naive T-lymphocyte, CD19+, and NK-cell numbers from pretransplant until 15 years posttransplant. Thirty-one of 43 patients (72%) survived. Median age at last follow-up was 10 years (range, 2-25 years). Twenty-one (68%) had persistent medical issues, mainly ongoing immunoglobulin replacement (14; 45%), cutaneous viral warts (7; 24%), short stature (4; 14%), limb lymphoedema (3; 10%), and bronchiectasis (2; 7%). Lung function was available and normal for 6 patients. Longitudinal analysis demonstrated sustained CD3+, CD19+, and NK-cell output 15 years post-HSCT. CD4+ naive lymphocyte numbers were better in conditioned vs unconditioned recipients (P, .06). B-lymphocyte and myeloid chimerism were highly correlated (ρ, 0.98; P < .001). Low-toxicity myeloablative conditioning recipients have better B-lymphocyte/myeloid chimerism and are free from immunoglobulin replacement therapy. IL2RG/JAK3 SCID survivors free from immunoglobulin replacement have normal QoL.

Randomised controlled trial of single phototherapy with reflecting curtains versus double phototherapy in term newborns with hyperbilirubinaemia.

AIM: The use of reflecting curtains with single phototherapy has not yet been directly compared with double phototherapy (DP). The objective of this study is to compare the efficacy of single phototherapy with reflecting curtains (SPRC) and DP in treating neonatal jaundice. METHODS: This randomised controlled trial involved 160 term newborns with severe neonatal jaundice in the first 2 weeks of life. The subjects were randomised in two groups: the intervention group receiving SPRC (n = 80) and a control group receiving DP (n = 80). Because of post-hoc exclusions, 78 subjects resulted in each group, respectively. The primary outcome was mean decrease in total serum bilirubin (TSB) levels after 4 h of phototherapy. The secondary outcomes were mean decrease in TSB levels after 10 h of phototherapy and duration of phototherapy. RESULTS: The mean decrease in TSB after 4 h of phototherapy in the intervention group was similar for the intervention and the control groups (23.46 ± 27.03 vs. 22.43 ± 27.38 µmol/L; P = 0.81). Also, after 10 h, it was similar in both groups (56.06 ± 31.36 vs. 58.17 ± 31.71 µmol/L, respectively; P = 0.67). Cox proportional hazards regression analysis indicated that there was no statistically significant difference in duration of phototherapy in both intervention (SPRC) and control (DP) (x2 change 0.393, P = 0.531; hazard ratio 1.060; 95% confidence interval 0.883-1.273). There were no significant adverse events noted. CONCLUSIONS: This study suggested that single phototherapy with reflecting curtain is as effective as DP in the treatment of neonatal hyperbilirubinaemia requiring intensive phototherapy.