Aims
Knowledge on the spectrum of thyroid disorders amongst Turner syndrome (TS) patients in Southeast Asia is limited. This study aimed to evaluate the prevalence of thyroid autoimmunity, the ...spectrum of autoimmune thyroid disease and association with age and karyotype amongst Malaysian TS girls.
Methods
A cross‐sectional study was conducted at 11 paediatric endocrine units in Malaysia. Blood samples for antithyroglobulin antibodies, antithyroid peroxidase antibodies and thyroid function test were obtained. In patients with pre‐existing thyroid disease, information on clinical and biochemical thyroid status was obtained from medical records.
Results
Ninety‐seven TS patients with a mean age of 13.4 ± 4.8 years were recruited. Thyroid autoimmunity was found in 43.8% of TS patients. Nineteen per cent of those with thyroid autoimmunity had autoimmune thyroid disease (Hashimoto thyroiditis in 7.3% and hyperthyroidism in 1% of total population). Patients with isochromosome X and patients with 45,X mosaicism or other X chromosomal abnormalities were more prone to have thyroid autoimmunity compared to those with 45,X karyotype (OR 5.09, 95% CI 1.54–16.88, P = 0.008 and OR 3.41, 95% CI 1.32–8.82, P = 0.01 respectively). The prevalence of thyroid autoimmunity increased with age (33.3% for age 0–9.9 years; 46.8% for age 10–19.9 years and 57.1% age for 20–29.9 years) with autoimmune thyroid disease detected in 14.3% during adulthood.
Conclusion
Thyroid autoimmunity was significantly associated with the non 45,X karyotype group, particularly isochromosome X. Annual screening of thyroid function should be carried out upon diagnosis of TS until adulthood with more frequent monitoring recommended in the presence of thyroid autoimmunity.
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK
ObjectiveThe objective of this study is to explore the information needs related to insulin therapy in children and adolescents with type 1 diabetes mellitus (T1DM) from the children’s perspectives ...as well as their caregivers.DesignQualitative study; semistructured interviews. To identify emerging themes relating to information needs, open coding and thematic analysis were employed.SettingParticipants were recruited from a tertiary care children’s hospital in Kuala Lumpur, Malaysia and a specialist hospital in Riyadh, Saudi Arabia.ParticipantsThirty one children with a mean age of 11.5 years (SD=1.9) and their caregivers were interviewed. Seventeen participants were from Malaysia and 14 were from Saudi Arabia.ResultsFour themes of information emerged from the interviews, including information related to (1) hypoglycaemia and hyperglycaemia, (2) insulin therapy, (3) injection technique and (4) other information needs pertaining to continuous glucose monitoring, access to peer groups and future advances in insulin therapy.ConclusionThis study provided valuable insights into the information needs related to T1DM and insulin therapy among children and adolescents with T1DM that should be considered by stakeholders in the development of age-appropriate education materials. Such materials will assist children and adolescents to better manage their life-long T1DM condition from adolescence until adulthood.
Congenital obstructive uropathy is a rare cause of ascites in infants. Majority of reported cases of genitourinary causes of ascites were due to posterior urethral valve. Here, we report a ...6-month-old boy who presented with progressive tense ascites and peritonitis attributed by unilateral left distal ureteric obstruction and acute pyonephrosis. He underwent left nephrostomy placement, after which there was a remarkable improvement of ascites. He then underwent left ureteral diversion procedure a month later with a tentative plan for ureteral reanastomosis in 6 months. To date, there are no reports describing ascites secondary to distal ureteric obstruction beyond the neonatal period. The objective of this case report is to highlight unilateral urinary tract obstruction as a potential cause of transudative ascites. Additionally, the superimposed infection in the obstructed collecting system can lead to acute peritonitis likely due to translocation of bacteria into the peritoneal cavity.
This study explored the user experiences of paediatric postgraduate trainees in Malaysia and Thailand in using a 2 h and 15 min online module for breastfeeding developed for Southeast Asia, which was ...adapted from existing European online modules for European and German Continuing Medical Education (CME) credits.
A qualitative study using focus group discussions (FGDs) was conducted with paediatric postgraduate trainees who used an online English-language breastfeeding module in two Thai universities (May 2020, done online) and two Malaysian universities (Sept- Nov 2019, in-person). FGDs explored module usability and utility. Sessions were transcribed verbatim and analysed thematically. The process of coding was done collaboratively by Thai and Malaysian researchers.
Twenty Six resident trainees participated (Thai, n = 13; Malaysian, n = 13). Ages ranged from 29-34 years old, with 21 females. Nineteen participants had never used online learning modules prior to this. Participants took between 1 to 5 sessions to complete the breastfeeding module. Four themes emerged from their experience. 1) The online learning module was more engaging and detailed than previous lectures, courses and/or books, but lacked hands-on training. 2) Using an online platform facilitated learning as eased navigation and resource searching, however, problems were encountered navigating the module on some devices. 3) Learners preferred less words and more graphics, as this helped them capture key messages. 4) Regionally tailored content elicited a mixed reaction from participants.
Users found that the adapted module compared favourably with previous learning experiences. However, online learning modules lack hands-on training, and implementation should ideally incorporate a mix of both. Consideration of device diversity and preferences for how content was adapted for local settings are needed for tailoring.
Patients with thalassemia major do require lifetime blood transfusions that eventually result in iron accumulation in different organs. We described the usefulness of using magnetic resonance imaging ...(MRI) T2
imaging values for the evaluation of pancreatic iron load in these patients, and we correlated it with MRI T2
haemosiderosis of the myocardium and liver that has been recognized as a non-invasive assessment of iron overload among patients with thalassemia major.
We conducted a cross-sectional study on 39 patients with thalassemia major in one of the tertiary university hospitals for a 1-year period. Demographic data were collected from the patient's history. MRI T2
of the pancreas, liver, and heart were executed on all patients in the same setting. Objective values of iron overload in these organs were obtained using the MRI post-processing software from online software.
A total of 32 (82.1%) patients had pancreatic iron overload including 2 patients (5.1%) with severe iron overload and 15 patients (38.5%) with moderate and mild iron overload, respectively. Nine patients (23.1%) had myocardial iron overload, which included 3 patients (7.7%) who had severe cardiac haemosiderosis. Notably, 37 patients (94.9%) had liver iron overload, which included 15 patients (38.5%) who had severe liver haemosiderosis. There was a moderate positive correlation between the relaxation time of the pancreas and heart haemosiderosis (r = 0.504,
< 0.001). No significant correlation was found between the relaxation time of the pancreas with the liver and the heart with the liver.
Pancreatic haemosiderosis precedes cardiac haemosiderosis, which establishes a basis for initiating earlier iron chelation therapy to patients with thalassemia major.
We present a scalable, integrated strategy for coupled protein and RNA detection from single cells. Our approach leverages the DNA polymerase activity of reverse transcriptase to simultaneously ...perform proximity extension assays and complementary DNA synthesis in the same reaction. Using the Fluidigm C1™ system, we profile the transcriptomic and proteomic response of a human breast adenocarcinoma cell line to a chemical perturbation, benchmarking against in situ hybridizations and immunofluorescence staining, as well as recombinant proteins, ERCC Spike-Ins, and population lysate dilutions. Through supervised and unsupervised analyses, we demonstrate synergies enabled by simultaneous measurement of single-cell protein and RNA abundances. Collectively, our generalizable approach highlights the potential for molecular metadata to inform highly-multiplexed single-cell analyses.
Background: It is unclear whether newborns with mild thyrotropin elevation (mTSHe) are at risk of neurocognitive impairment. We assessed whether mTSHe at birth persists during childhood and compared ...neurocognitive functioning to siblings. Methods: This study encompassed children born in the Auckland region (New Zealand) with a newborn screen TSH level of 8 to 14 mIU/L blood, age 6.9 to 12.6 years at assessment, and their siblings. Thyroid function tests (serum TSH and free thyroxine) and neurocognitive assessments were performed, including IQ via the Wechsler Intelligence Scale for Children, fourth edition. Results: Ninety-six mTSHe individuals were studied, including 67 children recruited with 75 sibling controls. Mean mTSHe newborn TSH level was 10.1 mIU/L blood and 2.4 mIU/L at assessment (range, 0.8-7.0 mIU/L, serum). Although higher newborn TSH levels in the mTSHe group correlated with lower full-scale IQ scores (r = 0.25; P = .040), they were not associated with the magnitude of the IQ difference within sibling pairs (P = .56). Cognitive scores were similar for mTSHe and controls (full-scale IQ 107 vs 109; P = .36), with a minor isolated difference in motor coordination scores. Conclusions: Our data do not suggest long-term negative effects of neonatal mild TSH elevation. TSH elevation below the screen threshold appears largely transient, and midchildhood neurocognitive performance of these children was similar to their siblings. We propose that associations between neonatal mild TSH elevation and IQ are due to familial confounders. We caution against the practice of reducing screening CH cutoffs to levels at which the diagnosis may not offer long-term benefit for those detected. (J Clin Endocrinol Metab 105: 1-10, 2020) Freeform/Key Words: neonatal screening, mild TSH elevation, congenital hypothyroidism, thyrotropin, intelligence tests, neuropsychological tests
Primary myelofibrosis is a rare type of myeloproliferative neoplasm with an annual incidence rate of 0.47 per 100,000. A retrospective, observational study was conducted to determine the disease ...evolution and costs of treatment for myelofibrosis (MF) patients managed in 4 Ministry of Health (MOH) hospitals in Sarawak, Malaysia.
The estimation of treatment cost was a planned analysis of the Real World Evidence (RWE) study which included retrospective chart review of adult MF patients treated in Sarawak General, Sibu, Bintulu and Miri Hospitals. The study was approved by Sarawak General Hospital HRRC and MREC. The current study was conducted to estimate the cost of out-patient visits, hospitalisation, transfusion and medication from the perspective of MOH. Out-patient visits and hospitalisation costs were calculated using current unit costs for full fee-paying charges of MOH hospitals. Transfusion costs were estimated for packed cell and platelet transfusions. Medication costs were calculated using drug prices from IQVIA database for MOH hospital sub-sector in 2021. Unit costs were standardised to index year of 2021.
Data from 63 patients was available for analysis. Mean annual health resource utilisation (HRU) was 6.13 clinic visits, 9.47 days of hospitalisation and 1.61 transfusions per patient per year. Mean HRU cost was RM23,320 (USD5,217) per patient per year, comprised of RM19,122 (USD4,278) in drug costs, RM3,030 (USD678) for hospitalisation, RM799 (USD178) for transfusions and RM368 (USD82) for outpatient cost.
The present analysis suggests that medication and hospitalisation were the main drivers of costs for MF treatment in Sarawak MOH hospitals. This study provides the first RWE estimate of the cost of MF in Malaysia and may provide insight into unmet clinical needs and a guide for further health economic research into the treatment of MF.
Currently, there is no three-dimensional structure of D-specific dehalogenase (DehD) in the protein database. We modeled DehD using ab initio technique, performed molecular dynamics (MD) simulation ...and docking of D-2-chloropropionate (D-2CP), D-2-bromopropionate (D-2BP), monochloroacetate (MCA), monobromoacetate (MBA), 2,2-dichloropropionate (2,2-DCP), d,l-2,3-dichloropropionate (d,l-2,3-DCP), and 3-chloropropionate (3-CP) into the DehD active site. The sequences of DehD and D-2-haloacid dehalogenase (HadD) from Pseudomonas putida AJ1 have 15% sequence similarity. The model had 80% of the amino acid residues in the most favored region when compared to the crystal structure of DehI from Pseudomonas putida PP3. Docking analysis revealed that Arg107, Arg134 and Tyr135 interacted with D-2CP, and Glu20 activated the water molecule for hydrolytic dehalogenation. Single residue substitutions at 25-30 °C showed that polar residues of DehD were stable when substituted with nonpolar residues and showed a decrease in activity within the same temperature range. The molecular dynamics simulation of DehD and its variants showed that in R134A variant, Arg107 interacted with D-2CP, while in Y135A, Gln221 and Arg231 interacted with D-2CP. It is our emphatic belief that the new model will be useful for the rational design of DehDs with enhanced potentials.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
birgHPC, a bootable Linux Live CD has been developed to create high-performance clusters for bioinformatics and molecular dynamics studies using any Local Area Network (LAN)-networked computers. ...birgHPC features automated hardware and slots detection as well as provides a simple job submission interface. The latest versions of GROMACS, NAMD, mpiBLAST and ClustalW-MPI can be run in parallel by simply booting the birgHPC CD or flash drive from the head node, which immediately positions the rest of the PCs on the network as computing nodes. Thus, a temporary, affordable, scalable and high-performance computing environment can be built by non-computing-based researchers using low-cost commodity hardware.
The birgHPC Live CD and relevant user guide are available for free at http://birg1.fbb.utm.my/birghpc.
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