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Human height can be described as a classical and inherited trait model. Genome-wide association studies (GWAS) have revealed susceptible loci and provided insights into the polygenic nature of human height. Familial short stature (FSS) represents a suitable trait for investigating short stature genetics because disease associations with short stature have been ruled out in this case. In addition, FSS is caused only by genetically inherited factors. In this study, we explored the correlations of FSS risk with the genetic loci associated with human height in previous GWAS, alone and cumulatively. We systematically evaluated 34 known human height single nucleotide polymorphisms (SNPs) in relation to FSS in the additive model ( p  < 0.00005). A cumulative effect was observed: the odds ratios gradually increased with increasing genetic risk score quartiles ( p  < 0.001; Cochran-Armitage trend test). Six affected genes— ZBTB38 , ZNF638 , LCORL , CABLES1 , CDK10 , and TSEN15 —are located in the nucleus and have been implicated in embryonic, organismal, and tissue development. In conclusion, our study suggests that 13 human height GWAS-identified SNPs are associated with FSS risk both alone and cumulatively.

Type 2 diabetes (T2D) is a chronic, multifactorial, and metabolic disorder accounting for 90% diabetes cases worldwide. Among them, almost half of T2D have hypertension, which is responsible for cardiovascular disease, morbidity, and mortality in these patients. The Chinese herbal medicine (CHM) prescription patterns of hypertension individuals among T2D patients have yet to be characterized. This study, therefore, aimed to determine their prescription patterns and evaluate the CHM effect. A cohort of one million randomly sampled cases from the National Health Insurance Research Database (NHIRD) was used to investigate the overall survival rate of CHM users, and prescription patterns. After matching CHM and non-CHM users for age, gender and date of diagnosis of hypertension, 980 subjects for each group were selected. The CHM users were characterized with slightly longer duration time from diabetes to hypertension, and more cases for hyperlipidaemia. The cumulative survival probabilities were higher in CHM users than in non-CHM users. Among these top 12 herbs, Liu-Wei-Di-Huang-Wan, Jia-Wei-Xiao-Yao-San, Dan-Shen, and Ge-Gen were the most common herbs and inhibited in vitro smooth muscle cell contractility. Our study also provides a CHM comprehensive list that may be useful in future investigation of the safety and efficacy for individuals with hypertension among type 2 diabetes patients.

Kawasaki disease (KD) is pediatric systemic vasculitis with the classic complication of coronary artery aneurysm (CAA). It is the leading cause of acquired cardiovascular diseases in children. Some severe cases present with multi-organ involvement or neurological dysfunction. To identify the role of the glutamate receptor, ionotropic, N-methyl-d-aspartate 3A (GRIN3A) in KD, we investigated genetic variations in GRIN3A in a Taiwanese cohort of 262 KD patients (76 with and 186 without CAA complications). We used univariate and multivariate regression analyses to identify the associations between clinical characteristics and GRIN3A genetic variations in KD. According to univariate regression analysis, CAA formation in KD was significantly associated with fever duration (p < 0.0001), first Intravenous immunoglobulin (IVIG) used (days after day one of fever) (p < 0.0001), and the GRIN3A (rs7849782) genetic variant (p < 0.001). KD patients with GG+GC genotype showed a lower rate of developing CAA (GG+GC genotype: odds ratio = 0.26; 95% CI = 0.14-0.46). Significant associations were identified between KD with CAA complication and the GRIN3A (rs7849782) genetic variant by using multivariate regression analysis. Specifically, significant correlations were observed between KD with CAA complications and the presence of GG+GC genotypes for the GRIN3A rs7849782 single-nucleotide polymorphism (full model: odds ratio = 0.25; 95% CI = 0.14-0.46). Our results suggest that a polymorphism of the GRIN3A gene may play a role in KD pathogenesis.

Background In this study, we studied the therapeutic effectiveness of percutaneous drainage with antibiotics and the need for an interval appendectomy for treating appendiceal abscess in children with a research-oriented dataset released by the Bureau of National Health Insurance in Taiwan through the Collaboration Center for Health Information Application (CCHIA). Methods We identified 1225 patients under 18 years of age who had non-surgical treatment for an appendiceal abscess between 2007 and 2012 in a Taiwan CCHIA dataset. The treatment included percutaneous drainage with antibiotics or antibiotics alone. We also analyzed data of patient’s baseline characteristics, outcomes of percutaneous drainage, and indicating factors for performing an interval appendectomy. Results Totally, 6190 children had an appendiceal abscess, an 1225 patients received non-operative treatment. Of 1225 patients, 150 patients received treatment with percutaneous drainage and antibiotics, 78 had recurrent appendicitis, 185 went on to receive an interval appendectomy, and 10 had postoperative complications after the interval appendectomy. We found that patients treated with percutaneous drainage and antibiotics had a significantly lower rate of recurrent appendicitis ( p  < 0.05), a significantly smaller chance of receiving an interval appendectomy ( p  < 0.05), and significantly fewer postoperative complications after the interval appendectomy ( p  < 0.05) than those without percutaneous drainage treatment. Older children (13 ~ 18 years) patients were found to have a significantly smaller need to receive an interval appendectomy than those who were ≤ 6 years of age (odd ratio (OR) = 2.071, 95 % confidence interval (CI) = 1.34–3.19, p <  0.01), and those who were 7 ~ 12 years old (OR = 1.662, 95 % CI = 1.15–2.41, p <  0.01). In addition, those treated with percutaneous drainage were significantly less indicated to receive an interval appendectomy later (OR = 2.249, 95 % CI = 1.19 ~ 4.26, p <  0.05). In addition, those with recurrent appendicitis had a significantly increased incidence of receiving an interval appendectomy later (OR = 3.231, 95 % CI = 1.95 ~ 5.35, p  < 0.001). Conclusions In this study, we used nationwide data to demonstrate therapeutic effectiveness of percutaneous drainage and antibiotics was more beneficial than only antibiotics in treating patients with an appendiceal abscess. We also found three factors that were significantly associated with receiving an interval appendectomy: recurrent appendicitis, being aged ≤ 13 years, and treatment with antibiotics only.

Background To define the benefits of different methods for diagnosis of pediatric appendicitis in Taiwan, a nationwide cohort study was used for analysis. Methods We identified 44,529 patients under 18 years old who had been hospitalized with a diagnosis of acute appendicitis between 2003 and 2012. We analyzed the percentages of cases in which ultrasound (US) and/or computed tomography (CT) were performed and non-perforated and perforated appendicitis were diagnosed for each year. Multivariate logistic regression analyses were performed to evaluate risk factors for perforated appendicitis. Results There were more cases of non-perforated appendicitis ( N  = 32,491) than perforated appendicitis ( N  = 12,038). The rate of non-perforated cases decreased from 0.068% in 2003 to 0.049% in 2012; perforated cases remained relatively stable at 0.024%~0.023% from 2003 to 2012. The percentage of CT evaluation increased from 3% in 2003 to 20% in 2012; the rates of US or both US and CT evaluations were similar annually. The percentage of neither CT nor US evaluation gradually decreased from 97% in 2003, to 79% in 2012. The odds ratios of a perforated appendix for those patients diagnosed by US, CT, or both US and CT were 1.227 (95% confidence interval (CI) 0.91, 1.65; p  = 0.173), 2.744 (95% CI 2.55, 2.95; p  < 0.001), and 5.062 (95% CI = 3.14, 8.17; p  < 0.001), respectively, compared to patients who did not receive US or CT. The odd ratios of a perforated appendix for those patients 7–12 and ≤6 years old were 1.756 (95% CI 1.67, 1.84; p  < 0.001) and 3.094 (95% CI 2.87, 3.34; p  < 0.001), respectively, compared to those 13–18 years old. Conclusions Our study demonstrated that using CT scan as a diagnostic tool for acute appendicitis increased annually; most patients especially those ≤6 years old who received CT evaluation had a greater risk of having perforated appendicitis. We recommend a prompt appendectomy in those pediatric patients with typical clinical symptoms and physical findings for non-complicated appendicitis to avoid the risk of appendiceal perforation.

Patients demonstrate notable variations in disease progression following human immunodeficiency virus (HIV) infection. We aimed to identify ZNRD1 and RNF39 genetic variants linked to AIDS progression. We conducted a genetic association study in HIV-1-infected Han Chinese patients residing in Taiwan. The clinical characteristics of 143 HIV-1-infected patients were measured, and patients were split into 2 groups: AIDS progression and AIDS non-progression. Genotyping of ZNRD1 and RNF39 was performed in all participants. We found that patients in the AIDS progression group had higher HIV-1 viral loads and lower CD4 cell counts than did patients in the AIDS non-progression group. The frequency of the AA genotype of ZNRD1 (rs16896970) was lower in the AIDS progression group than in the AIDS non-progression group. Patients with AA genotypes had lower levels of HIV-1 viral loads and higher levels of CD4 cell counts than did patients with AG+GG genotypes. AIDS progression in patients with the AA group is significantly different from that in patients with the AG and GG groups by using Kaplan-Meier survival analysis. The hazard ratio for progression was lower in the AA group than in the AG and GG groups. We identified a SNP that contributes to AIDS progression in HIV-1-infected patients in this population. This SNP had a significant protective influence on AIDS progression, and polymorphisms of the ZNRD1 gene may play a role in the pathogenesis of HIV-1 infection.

Kawasaki disease (KD) is an acute, inflammatory and self-limited vasculitis affecting infants and young children. Coronary artery aneurysm (CAA) formation is the major complication of KD and the leading cause of acquired cardiovascular disease among children. To identify susceptible loci that might predispose patients with KD to CAA formation, a genome-wide association screen was performed in a Taiwanese KD cohort. Patients with both KD and CAA had longer fever duration and delayed intravenous immunoglobulin treatment time. After adjusting for these factors, 100 susceptibility loci were identified. Four genes were identified from a single cluster of 35 using the Ingenuity Pathway Analysis (IPA) Knowledge Base. Silencing KCNQ5 , PLCB1 , PLCB4 and PLCL1 inhibited the effect of lipopolysaccharide-induced endothelial cell inflammation with varying degrees of proinflammatory cytokine expression. PLCB1 showed the most significant inhibition. Endothelial cell inflammation was also inhibited by using a phospholipase C (PLC) inhibitor. The single nucleotide polymorphism rs6140791 was identified between PLCB4 and PLCB1 . Plasma PLC levels were higher in patients with KD and CC+CG rs6140791genotypes and these genotypes were more prevalent in patients with KD who also had CAA. Our results suggest that polymorphism of the PLCB4/B1 genes might be involved in the CAA pathogenesis of KD.

Purpose To define the pattern of therapeutic approaches for pediatric appendicitis and compare their benefits in Taiwan, we analyzed a research-oriented dataset released by the Bureau of National Health Insurance in Taiwan through the Collaboration Center for Health Information Application (CCHIA) to document the impact of the rise of laparoscopic treatment on outcomes. Methods We identified 22,161 patients under 18 years who had been hospitalized with a diagnosis of acute appendicitis between 2007 and 2012 in the CCHIA. Statistical comparisons between the Laparoscopic appendectomy (LA) and open appendectomy (OA, control) groups were computed using a Chi squared test. The odds ratios (ORs) and 95  % confidence intervals (CIs) of risk factors for intra-abdominal abscess (IAA) and postoperative bowel obstruction (PBO) were derived from multivariate logistic regression models. Results In each respective year, the incidence of LA increased from 29.17  % in 2007 to 57.4 % in 2012, while that of OA decreased from 70.83 % in 2007 to 42.60 % in 2012; incidences of non-perforated appendicitis and perforated appendicitis with LA or OA seemed similar. The length of hospitalization between an LA and OA for non-perforated appendicitis was the same, but that with an LA was shorter for perforated appendicitis. The adjusted ORs for IAA and PBO for those patients with perforated and non-perforated appendicitis were 6.30 (95 % CI = 5.09–7.78; p  < 0.001) and 6.49 (95 % CI = 4.45–9.48; p  < 0.001); while for those cases undergoing an LA and OA, they were 0.50 (95 % CI = 0.40–0.62; p  < 0.001) and 2.07 (95 % CI = 1.45–2.95; p  < 0.001), respectively. The ORs of IAA and PBO for those patients ≤6 and 7–12 years of age were 1.67 (95 % CI = 1.23–2.25; p  = 0.001) and 1.20 (95 % CI = 0.97–1.49; p  = 0.095), and 1.88 (95 % CI = 1.08–3.24; p  = 0.025) and 1.47 (95 % CI = 1.01–2.14; p  = 0.043), respectively, compared to those aged 13–18 years. Conclusions Our study demonstrated that young age and perforated appendicitis can affect postoperative IAA and PBO. LA appeared beneficial in reducing the length of hospitalization and postoperative IAA, but had an increasing risk of PBO. Although laparoscopic approach for pediatric appendectomy is increasing in our country, the different hospital levels and pediatric surgeon’s laparoscopic experience must be evaluated in further study.

Type 2 diabetes (T2D) is a chronic, multifactorial, and metabolic disorder accounting for 90% diabetes cases worldwide. Among them, almost half of T2D have hypertension, which is responsible for cardiovascular disease, morbidity, and mortality in these patients. The Chinese herbal medicine (CHM) prescription patterns of hypertension individuals among T2D patients have yet to be characterized. This study, therefore, aimed to determine their prescription patterns and evaluate the CHM effect. A cohort of one million randomly sampled cases from the National Health Insurance Research Database (NHIRD) was used to investigate the overall survival rate of CHM users, and prescription patterns. After matching CHM and non-CHM users for age, gender and date of diagnosis of hypertension, 980 subjects for each group were selected. The CHM users were characterized with slightly longer duration time from diabetes to hypertension, and more cases for hyperlipidaemia. The cumulative survival probabilities were higher in CHM users than in non-CHM users. Among these top 12 herbs, Liu-Wei-Di-Huang-Wan, Jia-Wei-Xiao-Yao-San, Dan-Shen, and Ge-Gen were the most common herbs and inhibited in vitro smooth muscle cell contractility. Our study also provides a CHM comprehensive list that may be useful in future investigation of the safety and efficacy for individuals with hypertension among type 2 diabetes patients.

During sedated endoscopic examinations, upper airway obstruction occurs. Nasal breathing often shifts to oral breathing during open mouth esophagogastroduodenoscopy (EGD). High-flow nasal cannula (HFNC) which delivers humidified 100% oxygen at 30 L min−1 may prevent hypoxemia. A mandibular advancement (MA) bite block with oxygen inlet directed to both mouth and nose may prevent airway obstruction during sedated EGD. The purpose of this study was to evaluate the efficacy of these airway devices versus standard management. One hundred and eighty-nine patients were assessed for eligibility. One hundred and fifty-three were enrolled. This study randomly assigned eligible patients to three arms: the standard bite block and standard nasal cannula, HFNC, and MA bite block groups. EGD was performed after anaesthetic induction. The primary endpoint was the oxygen desaturation area under curve at 90% (AUCDesat). The secondary endpoints were percentage of patients with hypoxic, upper airway obstruction, and apnoeic and rescue events. One hundred and fifty-three patients were enrolled. AUCdesat was significantly lower for HFNC and MA bite blocks versus the standard management (p= 0.019). The HFNC reduced hypoxic events by 18% despite similar airway obstruction and apnoeic events as standard group. The MA bite block reduced hypoxic events by 12% and airway obstructions by 32%. The HFNC and MA groups both showed a 16% and 14% reduction in the number of patients who received rescue intervention, respectively, compared to the standard group. The HFNC and MA bite block may both reduce degree and duration of hypoxemia. HFNC may decrease hypoxemic events while maintaining nasal patency is crucial during sedative EGD. The MA bite block may prevent airway obstruction and decrease the need for rescue intervention.