Methylacetoacetyl-coenzyme A thiolase (MAT) deficiency is an autosomal recessive disease caused by a defect of mitochondrial acetoacetyl-CoA thiolase (T2). There is an error of isoleucine catabolism and ketone body utilization due to mutations in the acetyl-Coenzyme A acetyltransferase 1 (ACAT1) gene. We report a case of a 14 months old Sabahan boy with beta deficiency who presented with severe sepsis and ketoacidosis who subsequently recovered..

Purpose: Serological tests of tissue transglutaminase (TTG) and deamidated gliadin (DGP) antibodies for celiac disease diagnosis show conflicting correlation with histology in young children and in type 1 diabetes mellitus (T1DM). Tests' ability to predict histology and cutoff values based on age and T1DM was evaluated. Methods: A retrospective study of children who had celiac serological tests between 6/1/2002 and 12/31/2014 at a pediatric hospital. Results: TTG IgA displayed similar results in predicting histology between <4.0 and ≥4.0 years age groups with sensitivity 98% and 93%, and specificity 88% and 86%, respectively. In children <4.0 years old, sensitivity for DGP antibodies was 100% and specificity 94%; in ≥4.0 years age groups, sensitivity was 60%, 88% for DGP IgA and IgG and specificity 95%, 96%, respectively. TTG IgA had low specificity in patients with T1DM compared with non-T1DM, 42% vs. 91%. Positive TTG IgA with normal histology was associated with higher T1DM prevalence at 36% compared with negative tests at 4%. Finally, the TTG IgA cutoff value was higher in T1DM at 36 vs. 16.3 units in non-T1DM. DGP IgG cutoff showed similar values between age groups; TTG IgA and DGP IgA cutoffs were lower in <4.0 years at 8.3 and 11.9 units than ≥4.0 years at 23.4 and 19.9, respectively. Conclusion TTG IgA is sufficient for the <4.0 years age group and DGP antibodies had no advantage over TTG IgA in older children. The cutoff value to determine a positive TTG IgA should be higher for children with T1DM.

Purpose: Serological tests of tissue transglutaminase (TTG) and deamidated gliadin (DGP) antibodies for celiac disease diagnosis show conflicting correlation with histology in young children and in type 1 diabetes mellitus (T1DM). Tests' ability to predict histology and cutoff values based on age and T1DM was evaluated. Methods: A retrospective study of children who had celiac serological tests between 6/1/2002 and 12/31/2014 at a pediatric hospital. Results: TTG IgA displayed similar results in predicting histology between <4.0 and ≥4.0 years age groups with sensitivity 98% and 93%, and specificity 88% and 86%, respectively. In children <4.0 years old, sensitivity for DGP antibodies was 100% and specificity 94%; in ≥4.0 years age groups, sensitivity was 60%, 88% for DGP IgA and IgG and specificity 95%, 96%, respectively. TTG IgA had low specificity in patients with T1DM compared with non-T1DM, 42% vs. 91%. Positive TTG IgA with normal histology was associated with higher T1DM prevalence at 36% compared with negative tests at 4%. Finally, the TTG IgA cutoff value was higher in T1DM at 36 vs. 16.3 units in non-T1DM. DGP IgG cutoff showed similar values between age groups; TTG IgA and DGP IgA cutoffs were lower in <4.0 years at 8.3 and 11.9 units than ≥4.0 years at 23.4 and 19.9, respectively. Conclusion TTG IgA is sufficient for the <4.0 years age group and DGP antibodies had no advantage over TTG IgA in older children. The cutoff value to determine a positive TTG IgA should be higher for children with T1DM.

BACKGROUND AND OBJECTIVES: Recent studies showed that, in addition to parasympathetic nerves, cervical vagal nerves contained significant sympathetic nerves. We hypothesized that cervical vagal nerve stimulation (VNS) may capture the sympathetic nerves within the vagal nerve and activate the stellate ganglion. MATERIALS AND METHODS: We recorded left stellate ganglion nerve activity (SGNA), left thoracic vagal nerve activity (VNA), and subcutaneous electrocardiogram in seven dogs during left cervical VNS with 30 seconds on-time and 30 seconds off time. We then compared the SGNA between VNS on and off times. RESULTS: Cervical VNS at moderate (0.75 mA) output induced large SGNA, elevated heart rate (HR), and reduced HR variability, suggesting sympathetic activation. Further increase of the VNS output to >1.5 mA increased SGNA but did not significantly increase the HR, suggesting simultaneous sympathetic and parasympathetic activation. The differences of integrated SGNA and integrated VNA between VNS on and off times (DeltaSGNA) increased progressively from 5.2 mV-s {95% confidence interval (CI): 1.25-9.06, p=0.018, n=7} at 1.0 mA to 13.7 mV-s (CI: 5.97-21.43, p=0.005, n=7) at 1.5 mA. The difference in HR (DeltaHR, bpm) between on and off times was 5.8 bpm (CI: 0.28-11.29, p=0.042, n=7) at 1.0 mA and 5.3 bpm (CI 1.92 to 12.61, p=0.122, n=7) at 1.5 mA. CONCLUSION: Intermittent cervical VNS may selectively capture the sympathetic components of the vagal nerve and excite the stellate ganglion at moderate output. Increasing the output may result in simultaneously sympathetic and parasympathetic capture.
Animals ; Autonomic Nervous System ; Dogs* ; Electrocardiography ; Heart Rate ; Stellate Ganglion* ; Vagus Nerve Stimulation*

Human pluripotent stem cells (hPSCs), including embryonic stem cells (ESCs) and induced PSCs (iPSCs), represent potentially unlimited cell sources for clinical applications. Previous studies have suggested that hPSCs may benefit from immune privilege and limited immunogenicity, as reflected by the reduced expression of major histocompatibility complex class-related molecules. Here we investigated the global immune-related gene expression profiles of human ESCs, hiPSCs and somatic cells and identified candidate immune-related genes that may alter their immunogenicity. The expression levels of global immune-related genes were determined by comparing undifferentiated and differentiated stem cells and three types of human somatic cells: dermal papilla cells, ovarian granulosa cells and foreskin fibroblast cells. We identified the differentially expressed genes CD24, GATA3, PROM1, THBS2, LY96, IFIT3, CXCR4, IL1R1, FGFR3, IDO1 and KDR, which overlapped with selected immune-related gene lists. In further analyses, mammalian target of rapamycin complex (mTOR) signaling was investigated in the differentiated stem cells following treatment with rapamycin and lentiviral transduction with specific short-hairpin RNAs. We found that the inhibition of mTOR signal pathways significantly downregulated the immunogenicity of differentiated stem cells. We also tested the immune responses induced in differentiated stem cells by mixed lymphocyte reactions. We found that CD24- and GATA3-deficient differentiated stem cells including neural lineage cells had limited abilities to activate human lymphocytes. By analyzing the transcriptome signature of immune-related genes, we observed a tendency of the hPSCs to differentiate toward an immune cell phenotype. Taken together, these data identify candidate immune-related genes that might constitute valuable targets for clinical applications.
Embryonic Stem Cells ; Female ; Fibroblasts ; Foreskin ; Granulosa Cells ; Humans* ; Induced Pluripotent Stem Cells ; Lymphocyte Culture Test, Mixed ; Lymphocytes* ; Major Histocompatibility Complex ; Phenotype ; Pluripotent Stem Cells* ; RNA ; Signal Transduction ; Sirolimus ; Stem Cells ; Transcriptome

INTRODUCTIONUnscheduled reattendances at the paediatric emergency department may contribute to overcrowding, which may increase financial burdens. The objectives of this study were to determine the rate of reattendances and characterise factors influencing these reattendances and hospital admission during the return visits.

METHODSMedical records of all patients who attended the emergency department at KK Women's and Children's Hospital, Singapore, from 1 June 2013 to 31 May 2014 were retrospectively reviewed. We collected data on patient demographics, attendance data and clinical characteristics. Planned reattendances, recalled cases, reattendances for unrelated complaints and patients who left without being seen were excluded. A multivariate analysis was conducted to determine the odds ratio of variables associated with hospital admission for reattendances.

RESULTSOf 162,566 children, 6,968 (4.3%) returned within 72 hours, and 2,925 (42.0% of reattendance group) were admitted on their return visits. Children more likely to reattend were under three years of age, Chinese, triaged as Priority 2 at the first visit, and were initially diagnosed with respiratory or gastrointestinal conditions. However, children more likely to be admitted on their return visits were over 12 years of age, Malay, had a higher triage acuity or were uptriaged, had the presence of a comorbidity, and were diagnosed with gastrointestinal conditions.

CONCLUSIONWe identified certain subgroups in the population who were more likely to be admitted if they reattended. These findings would help in implementing further research and directing strategies to reduce potentially avoidable reattendances and admissions.

Adolescent ; Asian Continental Ancestry Group ; Child ; Child, Preschool ; Electronic Health Records ; Emergency Medicine ; organization & administration ; Emergency Service, Hospital ; organization & administration ; Female ; Hospitals ; Humans ; Infant, Newborn ; Male ; Odds Ratio ; Patient Admission ; Patient Readmission ; Pediatrics ; organization & administration ; Singapore ; Triage ; methods

BACKGROUND: Recent predictions of catastrophic epidemic surge of HIV infection in East Asia concern experts and governmental organizations. As in many other areas, countries in East Asia show diversities in their HIV epidemics, both geographically and temporally. However, they have similar regional, cultural and racial characteristics which allow them to have certain common factors. Having a clear picture of the current extent and feature of HIV/AIDS in this region is a very difficult task largely due to the fast pacing of expending epidemic and difficulty in data-sharing among countries in the region. Hence, we decided to study the epidemiologic feature of HIV/AIDS in East Asia through East Asia Network on HIV (EAN-HIV). MATERIALS AND METHODS: The epidemiological patterns of HIV/AIDS in East Asian countries were investigated by collecting data through EAN-HIV. RESULTS: The HIV/AIDS epidemic in East Asia started relatively late at mid 1980s. Since then, the number of newly infected HIV/AIDS cases has been steadily increasing with stiffer escalation in recent years. In China and Taiwan, IDU plays an important part in the swiftly growing HIV epidemics; however, in other regions like Korea, Japan, and Hong Kong, MSM (men who have sex with men) seems to be more of a problem. The major subtypes of HIV in East Asia are subtype B, C, and CRF01_AE, and rapidly evolving circulating recombinant forms (CRF) between subtypes such as CRF07_BC give dynamic change to the current status. CONCLUSION: The incidence of HIV/AIDS is rapidly increasing in East Asia. The epidemic pattern has undergone dynamic changes over time. China seems to be the leading source of HIV/AIDS epidemic in East Asia due to its large population and rapidly growing epidemics.
Asian Continental Ancestry Group ; China ; Epidemiology* ; Far East* ; HIV ; HIV Infections ; Hong Kong ; Humans ; Incidence ; Japan ; Korea ; Taiwan

BACKGROUND: Recent predictions of catastrophic epidemic surge of HIV infection in East Asia concern experts and governmental organizations. As in many other areas, countries in East Asia show diversities in their HIV epidemics, both geographically and temporally. However, they have similar regional, cultural and racial characteristics which allow them to have certain common factors. Having a clear picture of the current extent and feature of HIV/AIDS in this region is a very difficult task largely due to the fast pacing of expending epidemic and difficulty in data-sharing among countries in the region. Hence, we decided to study the epidemiologic feature of HIV/AIDS in East Asia through East Asia Network on HIV (EAN-HIV). MATERIALS AND METHODS: The epidemiological patterns of HIV/AIDS in East Asian countries were investigated by collecting data through EAN-HIV. RESULTS: The HIV/AIDS epidemic in East Asia started relatively late at mid 1980s. Since then, the number of newly infected HIV/AIDS cases has been steadily increasing with stiffer escalation in recent years. In China and Taiwan, IDU plays an important part in the swiftly growing HIV epidemics; however, in other regions like Korea, Japan, and Hong Kong, MSM (men who have sex with men) seems to be more of a problem. The major subtypes of HIV in East Asia are subtype B, C, and CRF01_AE, and rapidly evolving circulating recombinant forms (CRF) between subtypes such as CRF07_BC give dynamic change to the current status. CONCLUSION: The incidence of HIV/AIDS is rapidly increasing in East Asia. The epidemic pattern has undergone dynamic changes over time. China seems to be the leading source of HIV/AIDS epidemic in East Asia due to its large population and rapidly growing epidemics.
Asian Continental Ancestry Group ; China ; Epidemiology* ; Far East* ; HIV ; HIV Infections ; Hong Kong ; Humans ; Incidence ; Japan ; Korea ; Taiwan

INTRODUCTION: The use of neuromuscular blocking agents (NMBAs) is common during general anaesthesia. Neuromuscular monitoring with a peripheral nerve stimulator (PNS) is essential to prevent postoperative residual neuromuscular block (PRNB), defined as a train-of-four (TOF) ratio < 0.9. PRNB remains a common complication and may contribute to morbidity in the postoperative anaesthetic care unit (PACU). METHODS: An online survey was sent to anaesthesiologists in our department to assess their knowledge and clinical practices related to neuromuscular blockade. Next, a study was conducted on adult patients scheduled for elective surgery under general anaesthesia requiring NMBAs. Upon admission to the PACU, TOF monitoring was performed. RESULTS: A large proportion of anaesthesiologists showed a lack of knowledge of neuromuscular blockade or non-adherence to the best clinical practices associated with it. The majority (98.7%) stated that they did not routinely use PNS monitoring. In the clinical study, TOF monitoring was only used in 17.9% of the 335 patients who were assessed. The prevalence of PRNB was 33.4% and was associated with the elderly (age ≥ 65 years), a higher dose of NMBA used, a shorter duration of surgery, and a shorter duration between the last dose of NMBA and measurement of PRNB in the PACU. The incidence of adverse symptoms in the PACU was observed to be higher in patients with PRNB. CONCLUSION PRNB remains a clinically significant problem, but routine PNS monitoring is rare in our institution. This is compounded by inadequate knowledge and poor adherence to best clinical guidelines related to neuromuscular blockade.

OBJECTIVES: To study the early clinical efficacy of combined therapy of stage 4 neuroblastoma. METHODS: A retrospective analysis was performed on the medical data and follow-up data of 14 children with stage 4 neuroblastoma who were diagnosed in Hong Kong University-Shenzhen Hospital from January 2016 to June 2021. RESULTS: The median age of onset was 3 years and 7.5 months in these 14 children. Among these children, 9 had positive results of bone marrow biopsy, 4 had N-Myc gene amplification, 13 had an increase in neuron-specific enolase, and 7 had an increase in vanilmandelic acid in urine. Based on the results of pathological examination, differentiated type was observed in 6 children, undifferentiated type in one child, mixed type, in one child and poorly differentiated type in 6 children. Of all the children, 10 received chemotherapy with the N7 regimen (including 2 children receiving arsenic trioxide in addition) and 4 received chemotherapy with the Rapid COJEC regimen. Thirteen children underwent surgery, 14 received hematopoietic stem cell transplantation, and 10 received radiotherapy. A total of 8 children received Ch14.18/CHO immunotherapy, among whom 1 child discontinued due to anaphylactic shock during immunotherapy, and the other 7 children completed Ch14.18/CHO treatment without serious adverse events, among whom 1 child was treated with Lu177 Dotatate 3 times after recurrence and is still undergoing chemotherapy at present. The median follow-up time was 45 months for all the 14 children. Four children experienced recurrence within 2 years, and the 2-year overall survival rate was 100%; 4 children experienced recurrence within 3 years, and 7 achieved disease-free survival within 3 years. CONCLUSIONS Multidisciplinary combined therapy is recommended for children with stage 4 neuroblastoma and can help them achieve better survival and prognosis.
Antineoplastic Combined Chemotherapy Protocols/therapeutic use* ; Child ; Child, Preschool ; Combined Modality Therapy ; Humans ; Infant ; Neuroblastoma/drug therapy* ; Positron-Emission Tomography ; Radionuclide Imaging ; Retrospective Studies ; Treatment Outcome