Clinical aspects and genetic analysis of Taiwanese patients with the phenotype of hyper-immunoglobulin E recurrent infection syndromes (HIES).

BACKGROUND: Hyper-immunoglobulin E recurrent infection syndromes (HIES) has characteristic features and identified mutations. This study investigated clinical features and causal candidate mutations in Taiwanese patients with the HIES phenotype on referral base over 23 million inhabitants. PATIENTS AND METHODS: Clinical manifestations of the HIES phenotype, severity scoring, immunological functions and candidate genes of signal transducer and activator of transcription 3 (STAT3), tyrosine kinase 2 (TYKZ), and dedicator of cytokineses 8 (DOCK8) were analyzed. RESULTS: Between 1985 and 2009, six sporadic and two siblings met HIES criteria (onset age: 2-54 months; severity score: 31-65) out of 187 patients with primary immunodeficiencies. Five patients with the autosomal dominant (AD)-HIES phenotype presented as pneumatocoele, bronchiectasis, retained primary teeth, minor trauma fracture, scoliosis, coronary aneurysm, and lymphoma. Three with the autosomal recessive (AR)-HIES phenotype and impaired lymphocyte proliferation function had herpes simplex virus infection, molluscum contagiosum, and cerebral vasculitis. Notably in one patient with the AR-HIES phenotype, unintentional lead component in traditional application herbs for accelerating wound healing deposited in basal ganglia and aggravated involuntary movement relative to cerebral vacculitis. Those with mildly elevated memory T cells and decreased memory B cells trended to develop arteritis. Of five AD-HIES patients, three were mortalities from acute myocardial infarction, Proteus mirabilis, and Staphylococcus aureus sepsis. Only one had de novo novel STAT3 (Gln 469 Arg) mutation with "relative" lower HIES STAT3 score. CONCLUSIONS: Known genetic defects responsible for the HIES phenotype are not so common in Taiwan. This may infer genetic variations in different ethnicities although selection bias and under-diagnosis for HIES with known genetic defects could be contribution factors.

Low acuity paediatric emergency visits under single-payer universal health insurance in Taiwan, 2000-2015: a population-based repeated cross-sectional design.

OBJECTIVES: Emergency services utilisation is a critical policy concern. The paediatric population is the main user of emergency department (ED) services, and the main contributor to low acuity (LA) ED visits. We aimed to describe the trends of ED and LA ED visits under a comprehensive, universal health insurance programme in Taiwan, and to explore factors associating with potentially unnecessary ED utilisation. DESIGN AND SETTING: We used a population-based, repeated cross-sectional design to analyse the full year of 2000, 2005, 2010 and 2015 National Health Insurance claims data individually for individuals aged 18 years and under. PARTICIPANTS: We identified 5 538 197, 4 818 213, 4 401 677 and 3 841 174 children in 2000, 2005, 2010 and 2015, respectively. PRIMARY AND SECONDARY OUTCOME MEASURES: We adopted a diagnosis grouping system and severity classification system to define LA paediatric ED (PED) visits. Generalised estimating equation was applied to identify factors associated with LA PED visits. RESULTS: The annual LA PED visits per 100 paediatric population decreased from 10.32 in 2000 to 9.04 in 2015 (12.40%). Infectious ears, nose and throat, dental and mouth diseases persistently ranked as the top reasons for LA visits (55.31% in 2000 vs 33.94% in 2015). Physical trauma-related LA PED visits increased most rapidly between 2000 and 2015 (0.91-2.56 visits per 100 population). The dose-response patterns were observed between the likelihood of incurring LA PED visit and either child's age (OR 1.06-1.35 as age groups increase, p<0.0001) or family socioeconomic status (OR 1.02-1.21 as family income levels decrease, p<0.05). CONCLUSION: Despite a comprehensive coverage of emergency care and low cost-sharing obligations under a single-payer universal health insurance programme in Taiwan, no significant increase in PED utilisation for LA conditions was observed between 2000 and 2015. Taiwan's experience may serve as an important reference for countries considering healthcare system reforms.

Salivary microbial counts and buffer capacity in children with acute lymphoblastic leukemia.

PURPOSE: The aim of this study was to evaluate the caries activity in children undergoing maintenance stage chemotherapy courses. METHODS: Forty-six children with acute lymphoblastic leukemia (ALL) were examined, the age ranged from 3 to 12 years with a mean age of 7(1/2) years. They were under maintenance stage chemotherapy at the Department of Pediatric Hematology of Chang-Gung Memorial Hospital, Taoyuan, Taiwan. A control group of healthy children was recruited by age and sex-matching criteria. The children received only a clinical dental examination without radiographs. Decayed (D), Missing (M), and Filled (F) Tooth surfaces (S) scores were recorded following the WHO criteria. After oral examination, stimulated saliva samples were collected from the subjects to exam the salivary Streptococcus mutans counts, salivary lactobacilli counts and salivary buffer capacity. RESULT: The Wilcoxon signed-rank test shows that the salivary Streptococcus mutans counts in ALL children were significantly lower than healthy subjects (P<.001) and lactobacilli counts were similar on both groups (P=.47). However, the ALL group tended to have lower salivary buffer capacity than the control group (P=.002). The mean DEFTS/DMFTS scores of the ALL group were higher than the control group, but the differences did not reach statistical significance. CONCLUSIONS: Specific oral prevention regimens for ALL children undergoing chemotherapy should be planned for patients with unusually low salivary buffer capacity.

Fulminant septicaemia caused by multi-drug-resistant Streptococcus mitis following unrelated cord blood transplantation.

Streptococcus mitis (a common and usually harmless bacterium found in the nose, mouth and throat) can have an unusually high level of resistance to beta-lactam antibiotics. We report a patient who developed fatal Streptococcus mitis septicaemia following unrelated cord blood transplantation. Administration of vancomycin to patients with recurrent fever during allogeneic stem cell transplantation might be indicated.