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Introduction Non-syndromic cleft lip with or without cleft palate is a common worldwide birth defect due to a combination of environmental and genetic factors. Genome-wide association studies reported the rs7078160 of Vax1 is closely related to non-syndromic cleft lip with or without cleft palate in European populations. The following studies showed the same results in Mongolian, Japanese, Filipino, Vietnamese populations etc. However, conflicting research had been reported in Chinese population, Objective The aim of this study was to investigate the association between the rs7078160 polymorphism and non-syndromic cleft lip with or without cleft palate in Southern Chinese patients. Methods In this study, we investigated the polymorphism distribution of rs7078160 in 100 complete patient trios (39 patients with non-syndromic cleft lip and palate; 36 patients with non-syndromic cleft lip only; 25 had non-syndromic cleft palate only; and their parents) from Southern ethnic Han Chinese. 60 healthy trios were selected as control. Polymerase chain reaction and Sanger sequencing were used to genotype rs7078160 in Vax1; both case–control and family-based associations were analyzed. Results The case–control analyses revealed the rs7078160 polymorphism was significant, associated with non-syndromic cleft lip with or without cleft palate (p = 0.04) and non-syndromic cleft lip and palate (p = 0.01), but not associated with non-syndromic cleft lip only and non-syndromic cleft palate only patients. The genotype composition of rs7078160 comprises mutated homozygous AA, heterozygous AG and wild homozygous GG. Cases with AG + AA genotypes compared with GG homozygotes showed an increased risk of non-syndromic cleft lip with or without cleft palate (p = 0.04, OR = 2.05, 95% CI: 1.01–4.16) and non-syndromic cleft lip and palate (p = 0.01, OR = 3.94, 95% CI: 1.34–11.54). In addition, we did not detect any transmission-disequilibrium in rs7078160 (p = 0.68). Conclusion This study suggests that rs7078160 polymorphism is a risk factor of non-syndromic cleft lip with or without cleft palate, and Vax1 is strongly associated with non-syndromic cleft lip with or without cleft palate in Southern Chinese Han populations.

OBJECTIVES The present work describes the status and contents of The Human Bone Collection of the Faculty of Dentistry at the University of Hong Kong. MATERIALS AND METHODS The Collection originates from the 1980s and became officially established in 2017 for teaching and research purposes. Most of the Collection consists of unclaimed human remains of southern Chinese individuals exhumed from local cemeteries and donated to the Faculty in the last few decades. The demographic information was provided largely from burial records and forensic estimations. Since 2016, the Collection has undergone a process of reorganization into cranial and postcranial remains, followed by preservation procedures that included cleaning and classification. RESULTS The Collection currently consists of remains belonging to about 368 individuals (243 males, 54 females, 71 unknown), with ages ranging from 0.8 to 90 years (mean 57.4 years). It comprises cranial remains belonging to 260 individuals (169 males, 39 females, 52 unknown), and postcranial remains belonging to 248 individuals (180 males, 42 females, 26 unknown). The preservation status ranges from poor to good, with the cranial remains better preserved than the postcranial elements. For a large number of individuals, ear ossicles, soil samples, and other materials are also available. DISCUSSION The Collection is accessible to local and international institutions for teaching and research.

Objectives To establish the norms of binocular and monocular acuity and interocular acuity differences for southern Chinese infants and compare these norms with the results for northern Chinese infants. Methods A prospective, comparative, and noninterventional study was conducted from January to August 2018. Teller Acuity Cards II were used to determine the binocular and monocular acuity of infants. The tolerance intervals and limits with a stated proportion and probability were used to evaluate the norms of binocular and monocular acuity and interocular acuity differences. An unpaired t-test was used to compare the obtained norms with the reported northern Chinese norms. Results The tolerance intervals of binocular acuity (mean acuity of 3.73, 7.35, and 12.01 cpd, respectively, at 12, 24, and 36 months), monocular acuity (mean acuity of 2.88, 6.91, and 10.75 cpd, respectively, at 12, 24, and 36 months), and interocular acuity differences (mean difference of 0.92, 2.89, and 3.99 cpd, respectively, at 12, 24, and 36 months) were obtained, exhibiting an increasing trend with age. The binocular visual acuity norms of southern Chinese infants were significantly lower than those in northern China (4.37 vs. 6.9 cpd at 8 months and 7.35 vs. 26 cpd at 24 months) (P = 0.011). Conclusions Northern and southern Chinese infants exhibited distinct acuity norms and visual development patterns. The establishment of population-specific visual acuity norms is necessary for current populations of infants from different regions.

Although many studies have confirmed metabolic syndrome (MetS) is correlated with metal exposures, few studies have elucidated the associations of multiple metals with MetS risk. We aim to explore the relationship between serum 22 metals and MetS. We determined serum 22 metals using ICP-MS and used LASSO regression to select metals independently related with MetS to construct multiple-metals model. We further explored the dose-response relationship between positive metals and MetS by the restricted cubic spline regression. After screening by LASSO regression, serum 11 metals were selected to construct multiple-metals model in cross-sectional analysis, while 5 metals in longitudinal analysis. In the 11-metal model, only tin and zinc were associated with MetS in cross-sectional analysis (ORtin = 2.22, 95% CI:1.43, 3.45; ORzinc = 2.17, 95% CI: 1.42, 3.32; both Ptrend 0.05). Furthermore, the interaction between high tin and high zinc was also associated with increasing MetS risk (Pinteraction < 0.05). We found that serum tin and zinc were independently and interactively associated with MetS in the southern Chinese men. Our results suggested that high tin and zinc may be the risk factors of MetS.

Background Dental age estimation can assist in the identification of victims following natural disasters and it can also help to solve birth date disputes in individuals involved in criminal activities. A reference dataset (RDS) has been developed from the dental development of 2306 subjects of southern Han Chinese origin and subsequently validated. This study aimed to test the applicability of the southern Han Chinese dental maturation RDS on three distinct East Asian population groups. Methods A total of 953 dental panoramic radiographs of subjects aged 2 to 24 years were obtained from Philippines, Thailand and Japan. The staging of dental development was conducted according to Anglo-Canadian classification system. The dental age (DA) was calculated using six methods; one un-weighted average and five weighted average (n-tds, sd-tds, se-tds, 1/sd-tds, 1/se-tds) methods based on the scores of the southern Han Chinese RDS. Statistical significance was set at p Results From six dental age calculations, all methods of DA accurately estimated the age of Japanese and few methods in Filipino subjects (n-tds, 1/sd-tds, 1/se-tds). There was consistent overestimation of age for all the methods for Thai females (p Conclusions The southern Han Chinese dental reference dataset was shown to be most accurate for Japanese, followed by Thai males and it was particularly ineffective for Filipinos and Thai females.

Hirschsprung disease (HSCR) is an infrequent congenital intestinal dysplasia. The known genetic variations are unable to fully explain the pathogenesis of HSCR. The α/β‐hydratase domain 1 (ABHD1) interferes with the proliferation and migration of intestinal stem cells. Docking protein 6 (DOK6) is involved in neurodevelopment through RET signalling pathway. We examined the association of ABHD1 and DOK6 genetic variants with HSCR using 1470 controls and 1473 HSCR patients from Southern Chinese children. The results clarified that DOK6 rs12968648 G allele significantly increased HSCR susceptibility, in the allelic model (p = 0.034; OR = 1.12, 95%CI = 1.01~1.24) and the dominant model (p = 0.038; OR = 1.12, 95%CI = 1.01~1.25). Clinical stratification analysis showed that rs12968648 G allele was associated with increased risk of short‐segment HSCR (S‐HSCR), in the allelic model (p = 0.028; OR = 1.14, 95%CI = 1.01~1.28) and the additive model (p = 0.030; OR = 1.14, 95%CI = 1.01~1.28). ABHD1 rs2304678 C allele had higher risk to develop total colonic aganglionosis (TCA) in the allelic model (p = 7.04E‐03; OR = 1.67, 95%CI = 1.15~2.43) and the dominant model (p = 4.12E‐03; OR = 1.93, 95%CI = 1.23~3.04). DOK6 rs12968648 and ABHD1 rs2304678 had significant intergenic synergistic effect according to logical regression (p = 0.0081; OR = 0.76, 95%CI = 0.63~0.93) and multifactor dimensionality reduction (MDR, p = 0.0045; OR = 1.25, 95%CI = 1.07~1.46). This study verified two susceptible variations of HSCR on ABHD1 and DOK6. Their roles in HSCR should be conducted in further studies.

One nucleotide substitution in codon 189 of HLA-C*01:02:01:01 results in a novel allele, HLA-C*01:179. This article is protected by copyright. All rights reserved.

Background Nemaline myopathy 8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, contractures, fractures, respiratory failure and swallowing difficulties apparent at birth. Methods An affected dizygotic twin pair from a non‐consanguineous Chinese family presented with severe asphyxia, lethargy and no response to stimuli. The dysmorphic features included prominent nasal bridge, telecanthus, excessive hip abduction, limb edema, absent palmar and sole creases, acromelia, bilateral clubfoot, appendicular hypertonia and cryptorchidism. Both infants died in the first week of life. Whole‐exome sequencing was used to identify the causative gene. Results Whole‐exome sequencing identified a recurrent missense variant c.1516A>C and a novel splice‐acceptor variant c.1153‐1G>C in KLHL40 gene in both siblings. We estimated the disease incidence in Southern Chinese population to be 2.47/100,000 based on the cumulative allele frequency of pathogenic and likely pathogenic variants in our internal database. Conclusion Our study expanded the mutation spectrum of KLHL40 and the condition could have been underdiagnosed before. We identified a recurrent missense variant c.1516A>C and provided evidence further supporting the founder effect of this variant in Southern Chinese population. Given the severity of the condition and the relative high incidence, this not‐so‐rare disorder should be included in expanded carrier screening panel for Chinese population., Two male babies with nemaline myopathy‐8 also showed appendicular hypertonia exome sequencing identified a recurrent missense variant and a novel splice‐acceptor variant in KLHL40 Four additional novel pathogenic variants of KLHL40 were identified and it is speculated that nemaline myopathy‐8 is not‐so‐rare in Chinese population.

Objective: To explore the prospective correlation between serum metals before 24 weeks’ gestation and gestational diabetes mellitus (GDM) or glucose in the late second trimester among southern Chinese pregnant women. Methods: A total of 8169 pregnant women were included in our retrospective cohort study. Logistic regression was used to investigate the relationships between metals (Manganese [Mn], copper [Cu], lead [Pb], calcium [Ca], zinc [Zn], magnesium [Mg]) and GDM. Quantile regression was performed to detect the shifts and associations with metals and three time-points glucose distribution of oral glucose tolerance test (OGTT) focused on the 10th, 50th, and 90th percentiles. Weighted quantile sum (WQS) regression was used to explore the relationship of metal mixtures and GDM as well as glucose. Results: Maternal serum concentrations of metals were assessed at mean 16.55 ± 2.92 weeks’ gestation. Women with under weight might have 25% decreased risk of GDM for every 50% increase in Cu concentration within the safe limits. A 50% increase in Mn and Zn levels was related to a 0.051 μmol/L (95% CI: 0.033–0.070) and 0.059 μmol/L (95% CI: 0.040–0.079) increase in mean fasting plasma glucose of OGTT (OGTT0), respectively. The magnitude of association with Mn was smaller at the upper tail of OGTT0 distribution, while the magnitude of correlation with Zn was greater at the upper tail. However, there was a 0.012 mmol/L (95% CI: −0.017 to −0.008), 0.028 mmol/L (95% CI: −0.049 to −0.007), and 0.036 mmol/L (95% CI: −0.057 to −0.016) decrease in mean OGTT0 levels for every 50% increase in Pb, Ca, and Mg, respectively. The negative association of Pb, Ca, and Mg was greater at the lower tail of OGTT0 distribution. No significant relationship was observed in Cu and mean OGTT0 level (−0.010 mmol/L, 95% CI: −0.021 to 0.001), however, it showed a protective effect at the upper tail (−0.034 mmol/L, 95% CI: −0.049 to −0.017). No obvious correlation was found between metals and postprandial glucose levels (OGTT1 and OGTT2 from OGTT). The WQS index was significantly related to OGTT0 (P

Objective:The current study evaluated the associations between different forms and sources of Fe and breast cancer risk in Southern Chinese women.Design:Case–control study. We collected data on the consumption of Fe from different forms and food sources by using a validated FFQ. Multivariable logistic regression and restricted cubic spline (RCS) analysis was used to reveal potential associations between Fe intake and breast cancer risk.Setting:A case-control study of women at three major hospitals in Guangzhou, China.Participants:From June 2007 to March 2019, 1591 breast cancer cases and 1622 age-matched controls were recruited.Results:In quartile analyses, Fe from plants and Fe from white meat intake were inversely associated with breast cancer risk, with OR of 0·65 (95 % CI 0·47, 0·89, Ptrend = 0·006) and 0·76 (95 % CI 0·61, 0·96, Ptrend = 0·014), respectively, comparing the highest with the lowest quartile. No associations were observed between total dietary Fe, heme or non-heme Fe, Fe from meat or red meat and breast cancer risk. RCS analysis demonstrated J-shaped associations between total dietary Fe, non-heme Fe and breast cancer, and reverse L-shaped associations between heme Fe, Fe from meat and Fe from red meat and breast cancer.Conclusion:Fe from plants and white meat were inversely associated with breast cancer risk. Significant non-linear J-shaped associations were found between total dietary Fe, non-heme Fe and breast cancer risk, and reverse L-shaped associations were found between heme Fe, Fe from meat or red meat and breast cancer risk.

Background Cone-beam computed tomography (CBCT) was employed to study the morphology and curvature of middle mesial canals (MMCs) of mandibular first molars (MFMs). Methods CBCT scanning was performed on MFMs of 1100 patients. Patients' images that met the inclusion criteria were divided into group A (t-test was used to calculate the statistical significance. P Results In 875 patients, 1750 MFM images met the inclusion criteria. Among these cases, 158 MFMs contained an MMC, yielding an incidence rate of 9.03%. The incidence rate of MMCs was 11.22% in group A and 6.61% in group B, and this difference was statistically significant (P P P > 0.05). The most common mesial root canal morphological type was type II (3-2) (53.80%). Conclusion The incidence of MMCs in MFMs declined as age increased. The canal systems of MMCs were varied and complex, mainly exhibiting an obvious mesiodistal curve. CBCT is an outstanding method to help guide root canal therapy. *Yeqing Yang and Buling Wu have contribute equally to this article.

Introduction Thalassaemia trait (TT) is potential to be missed clinically, especially normocytic thalassaemia. We aimed to establish discriminant functions (DFs) and an algorithm for detecting microcytic or normocytic TT in epidemiological screening. Methods The receiver operating characteristics (ROC) curve analysis was used to determine the diagnostic performance of the proposed formulas in differentiating TT and nonthalassaemia (non-TT). DFs combined the two blood count parameters with the highest performance, based on the area under the curve (AUC) value, into mathematical formulas, using logistic regression. The diagnostic efficacy of DFs was subsequently evaluated in 761 participants, and reliability (including adjusted agreement [AA] and Kappa values) and validity (including sensitivity, specificity, likelihood ratio and Youden's Index) were calculated. Results Among microcytic participants, the proposed DFs showed good diagnostic performance (in females: AUC = 0.892 [DF1 = 0.015 × RDW-CV/RBC - 0.096 × RDW-SD/RBC + 1.29], in males: AUC = 0.861 [DF2=-0.025 × RDW-SD/RBC - 0.035 × MCV/RBC + 1.415]). Youden's Index, AA and Kappa values for microcytic TT detection were 0.72, 0.86, and 0.72 and 0.63, 0.81 and 0.63 for females and males, respectively. In normocytic participants with RDW-CV/RBC ≤ 3.54, DF3=-0.38 × MCH-0.02 × MCHC+17.37 achieved AUC = 0.857 in females, whereas DF4 = 0.007 × MCV-0.113 × MCH+2.829 achieved AUC = 0.969 in males. The Youden's Index, AA and Kappa values for the proposed DFs for thalassaemia detection were 0.69, 0.84 and 0.67 in females, 0.76, 0.91 and 0.71 in males, respectively. Conclusion The proposed DFs performed well in the detection of TT among participants with microcytic and normocytic parameters and could be utilized in epidemiological study for TT.

INTRODUCTION: Urbanization is associated with major changes in environmental and lifestyle exposures that may influence metabolic signatures. OBJECTIVES: We investigated cross-sectional urban and rural differences in plasma metabolome analyzed by liquid chromatography/mass spectrometry platform in 500 Chinese adults aged 25–68 years from two neighboring southern Chinese provinces. METHODS: We first examined the overall metabolome differences by urban and rural residential location, using Orthogonal Partial Least Squares Discriminant Analysis (OPLS-DA) and random forest classification. We then tested the association between urbanization status and individual metabolites using a linear regression adjusting for age, sex, and province and conducted pathway analysis (Fisher’s exact test) to identify metabolic pathways differed by urbanization status. RESULTS: We observed distinct overall metabolome by urbanization status in OPLS-DA and random forest classification. Using linear regression, out of a total of 1108 unique metabolite features identified in this sample, we found 266 metabolites that differed by urbanization status (positive false discovery rate-adjusted p-value, q-value

Our previous work reported activating transcription factor 1 (ATF1) is a promotive factor of nasopharyngeal carcinoma (NPC) tumorigenesis. This study is to further explore the association between the human ATF1 rs11169571 polymorphism and the risk of NPC occurrence. The association between ATF1 rs11169571 and risk of NPC occurrence was investigated in clinical samples of 560 patients and 661 controls obtained from southern China with high incidence of NPC. The genotypes were detected by PCR‐RFLP. The differential expression activity of alleles ‐T and ‐C was analyzed with CNE‐2 and C666‐1 cells by luciferase reporter assay. Our data suggested that the allelic frequency and genotypes were significantly different between patients and controls. Compared to the TT homozygote, the TC and CC genotypes have been shown to be significantly decreased in NPC patients (OR = 0.494, 95% CI = 0.387‐0.629, P

Objectives To investigate the characteristics of hairs in Female pattern hair loss (FPHL) patients and healthy females in Southern China. Materials and methods Three fundamental hair parameters in different scalp areas of 90 Southern Chinese FPHL patients and 83 healthy controls were analyzed by phototrichogram. Results Female pattern hair loss patients showed reduced hair density, hair diameter, and terminal/vellus hair ratio. The reduction correlated with the severity of Ludwig staging. Midscalp was the most affected area in FPHL, but occipital and temporal sites were also involved. In normal women, the highest hair density was observed in midscalp, followed by occipital and temporal areas. Peak hair density at midscalp sites was reached at 20s group, then declined with age. Maximum hair diameter at midscalp and occipital sites occurred in 40s group. Terminal/vellus hair ratio tended to increase with age and peak on 50-60s group. Conclusion Reduced hair density and hair diameter, and miniaturization of hair follicles are the characteristics of FPHL in Southern Chinese women. Occipital and temporal sites are also affected in FPHL. Age-associated changes might have an influence on the hair condition. The values of hair parameters obtained in this study will help to establish reference data for better evaluation of hair disorders.

Development of human dentition has been used as a predictor for evaluating the growth and maturity of an individual. It is fairly identical in a specific population, but the effect of development on subjects with dental anomalies had not been fully explored, particularly on subjects with supernumerary teeth (ST). This study hence aims to evaluate the dental development of children with and without ST. Sample size calculation was conducted and 320 radiographs of subjects with and without supernumerary teeth (ST) were obtained from the archives of a teaching hospital. The subjects in both groups were age and sex matched. All the subjects belong to southern Chinese ethnicity aged 2 to 14 years. The left-side dentition was scored, and dental age (DA) was estimated by obtaining scores from the southern Chinese dental reference dataset. Paired t test was used to calculate the difference between chronological age and dental age (CA-DA) for boys and girls with and without ST and further based on the number and position of ST. The difference between chronological age and dental age (CA-DA) was 0.10 years for boys and 0.19 years for girls with ST whilst 0.01 and 0.05 years for boys and girls without ST (p > 0.05). The boys with bilateral ST showed significant delay in dental development of 0.23 years (p

Objectives The aim of this study is to investigate the association of HDL-C with CCAS, as well as its intracranial or extracranial location in the Southern Chinese population. Patients and methods 123 Southern Chinese patients with large-artery atherosclerotic(LAA) ischemic stroke were enrolled for the final analysis. Based on the stenosis severity defined by digital subtraction angiography, the patients were categorized into CCAS and non-CCAS groups. The degree of artery stenosis among patients of CCAS was classified into three grades. CCAS were further categorized into intracranial AS (ICAS), Extracranial AS (ECAS) and combined intra-/extra-cranial AS (IECAS). Results It was showed that patients with CCAS had a lower HDL-C level compared to NCCAS, and HDL-C levels were correlated to the degree of artery stenosis among CCAS. After adjusting for multiple potential confounders, low HDL-C level remained independently associated with CCAS(adjusted OR = 2.860). Patients with the lowest HDL-C quartile had a significantly increased risk for CCAS(adjusted OR: 5.771), referred to the highest quartile. But HDL-C levels in patients with ICAS, ECAS and IECAS were not significantly different, and there was no significant correlation between HDL-C levels and ICAS. Conclusion Our data indicate that low HDL-C level is associated with CCAS in Southern Chinese patients with LAA ischemic stroke. But the effects of HDL-C on the distribution of CCAS is required to be further explored.

Objectives. To evaluate the tooth size discrepancy and Bolton’s ratios between male and female subjects with a Class I malocclusion. Materials and Methods. The digital e-models of 100 male and 100 female 12-year-old southern Chinese children with a Class I malocclusion were selected. The mesiodistal widths from permanent first molar to the contralateral side first molar of the upper and lower dentitions were measured. Differences between the tooth size discrepancy, together with the anterior and overall Bolton’s ratios between male and female subjects, were assessed using a two-sample t-test. A paired t-test was used to determine differences between antimetric pairs of teeth within the same arch. Results. Females had statistically significant smaller teeth than males (P < 0.05) except the upper left and lower left lateral incisor and lower left and right central incisors. The mean values of anterior Bolton’s ratios for males and females were 77.04 and 77.03, respectively (P > 0.05), while the mean values of overall Bolton’s ratios of male and female are 90.48 and 90.65, respectively (P < 0.05). The clinical significant differences (Cohen’s d > 0.2) for contralateral tooth size were shown on the maxillary canines, lateral incisors, and central incisors of males; and mandibular canines and lateral incisors of females. Conclusions. Southern Chinese females presenting with Class I malocclusions have smaller mesiodistal tooth dimensions compared to males. Both males and females presented several tooth size asymmetries. There are no statistical differences in anterior and overall Bolton’s ratios between the genders.

This study investigated and compared wintertime air pollution and personal exposure in the rural northern and southern Chinese homes. Daily indoor and outdoor particle samples were simultaneously collected by using stationary samplers, and personal exposure was directly measured using portable carried samplers. The daily average concentrations of indoor and outdoor PM 2.5 were 521 ± 234 and 365 ± 185 μg/m 3 in the northern village, that were about 2.3–2.7 times of 188 ± 104 and 150 ± 29 μg/m 3 in indoor and outdoor air in the southern villages. Particle size distribution was similar between indoor and outdoor air, and had relatively smaller difference between the two sites, relative to the particle mass concentration difference. PM 2.5 contributed to ∼80% of the TSP mass, and in PM 2.5 , near 90% were PM 1.0 . In homes using electricity in the southern villages, outdoor air pollution could explain 70–80% of the variation in indoor air pollution. The daily exposure to PM 2.5 measured using personal carried samplers were 451 ± 301 μg/m 3 in the northern villages with traditional solid fuels used for daily cooking and heating, and in the southern villages without heating, the exposure to PM 2.5 were 184 ± 83 and 166 ± 45 μg/m 3 , respectively, for the population using wood and electricity for daily cooking. Time-weighted daily average exposure estimated from area concentration and time spent indoor and outdoor was generally correlated the directly measured exposure.

Although there have been some studies about changes of skin erythema and pigmentation following ultraviolet radiation in other races, the relevant data in Chinese have never been achieved. Thus, we evaluated the long-time course of skin erythema, pigmentation and hydration changes after different doses of solar-simulated ultraviolet (SSUV) irradiation in 26 Chinese women for 168 days. The erythema index increased abruptly and peaked during 3 days of SSUV exposure, then slowly returned to the baseline level starting at day 7 and completely recovered during 168-day course of this study only in one minimal erythema doses (MED) SSUV irradiation. The melanin index started to slowly increase at day 3 of SSUV exposure, peaking at day 14 and gradually returned to the baseline level thereafter, but did not return to the baseline level during 168-day course in all doses. Skin hydration slowly declined at day 3 of exposure, hitting the lowest point at day 7, then slowly recovered starting at day 14 and completely returned to the baseline level at day 28 only in 1.5MED. These results will serve as baseline data on Chinese skin and provide useful references for the treatment of serious skin photodamage in Chinese.

Background As the Chinese population continues to age, the incidence of neurodegenerative diseases (NDDs) has increased dramatically, which results in heavy medical and economic burden for families and society. Objective The objective of this study was to evaluate NDDs in a southern Chinese hospital over a 10-year period and examine trends in demographics, outcome, length of stay (LOS) and cost. Methods Retrospective medical records of patients from January 2010 to December 2019 were collected, including 7231 patients with NDDs (as case group) and 9663 patients without any NDDs (as control group). The information of social demographic data, admission source, reasons for admission, outcomes, LOS, and cost were extracted and analysed. Result The average hospitalisation age of the patients with NDDs is over 65 years (peak age 70-89 years). Compared with the control group, the case group had a longer LOS and a higher cost and the numbers of patients with NDDs increased yearly from 2010 to 2019. The LOS shortened while the cost increased. Clinical features affected LOS and cost. Patients suffering from infection, abnormal blood pressure and the imbalance of water-electrolyte homoeostasis as main reasons for admission were decreased; however, heart disease, cerebrovascular accident and mental diseases were significantly increased, the overall change trend of fracture/trauma remained stable. The rate of discharge to home care and mortality declined; discharge to other medical or community facilities increased over 10 years. Conclusion The majority of NDDs patients tended to be older. During the last 10 years from 2010 to 2019, the numbers of NDDs patients increased yearly, the trend of LOS became shortening and the cost gradually increasing. The main reasons of admission and outcomes of hospital showed different trends.

ObjectivesTo review the pattern of primary pterygium-induced corneal astigmatism in patients with cataract in a southern Chinese population.DesignClinic-based cross-sectional retrospective study.SettingA secondary hospital at southern China.ParticipantsA group of 1689 eyes with primary pterygium (PT group) and the other group of 4062 eyes without pterygium (NPT group) were included.Main outcome measuresCorneal power was measured by an autokeratorefractometer. Corneal astigmatism was calculated as the difference in corneal power between the steepest and flattest meridians. Distribution of corneal astigmatism was compared between eyes with pterygium and eyes without pterygium.ResultsDistribution of corneal astigmatism was different between PT group (skewness=2.548, kurtosis=8.237) and NPT group (skewness=2.778, kurtosis=15.52). Mean corneal astigmatism was significantly higher in the PT group (1.62±1.49D) compared with the NPT group (1.17±0.89D, p1D (PT 52.3%, NPT 40.9%, p2D (PT 22.4%, NPT 10.6%, p3D (PT 10.5%, NPT 3.2%, p0, PT −0.01±0.74D, NPT 0.01±0.52D, p=0.48; J45, PT −0.03±0.82D, NPT 0.00±0.52D, p=0.54).ConclusionsPattern of corneal astigmatism in eyes with cataract and coexisting primary pterygium was different from eyes without pterygium. Pterygium is associated with higher magnitude but not different axis of corneal astigmatism.

Polycyclic aromatic hydrocarbons (PAHs) are ubiquitous pollutants in atmosphere, which attracted more attentions due to their influence on human health. In this study, a national scale cancer risk (CR) assessment with atmospheric PAHs were conducted based on one year monitoring program at 11 cities across China. The annual mean concentrations of benzo[a]pyrene (BaP) and BaP equivalency (BaPeq) were 4.56 ± 7.78 ng/m3 and 8.45 ± 14.1 ng/m3, respectively, which were both higher than the new ambient air quality standards of China (GB 3095–2012, 1 ng/m3). Concentrations of BaP and BaPeq in northern Chinese cities were almost 2 times higher than those in southern Chinese cities. The CR values induced by the dermal contact exposure were two orders of magnitude higher than that by the inhalation exposure. Children and adults were the most sensitive age groups with the dermal contact exposure and the inhalation exposure to atmospheric PAHs, respectively. For the total CR values, 99.7% of its values were higher than the reference level of 10−6. No significant difference of the total CR values was observed between northern Chinese and southern Chinese cities for children and adults. In order to quantify the uncertainties of CR assessment, Monte Carlo Simulation was applied based on the specific distributions of the exposure factors cited from the Exposure Factors Handbook of Chinese Population. The results indicated that almost 90% probability of the total CR values were higher than 10−6, indicating potential cancer risk. Sensitive analysis indicated that atmospheric concentration, outdoor exposure fraction, particle amount adhered to skin, and cancer slope factor should be carefully considered in order to increase the accuracy of CR assessment with PAHs in atmosphere.

Objective: To present the application of the pre-epiglottic baton plate (PEBP) in infants with Pierre Robin sequence (PRS) in the Southern Chinese population (Hong Kong) and to present the diagnosis and management protocol of these infants in our centre. Design: Retrospective case series of three patients with PRS. Setting: Neonatal Intensive Care Unit in Kwong Wah Hospital and Craniofacial Orthodontic Centre in United Christian Hospital, Hong Kong. Participants: Three new-born infants (two girls, one boy) with PRS and upper airway obstruction due to glossoptosis. Methods: A protocol for the diagnosis and management of these infants in the Southern Chinese population (Hong Kong) was presented. The three patients received nasal high-flow oxygen and/or continuous positive airway pressure (CPAP) as first-line respiratory support, followed by PEBP for 3–5 months. A two-stage approach was undertaken to ensure accurate positioning of the PEBP. Results: All three infants had improvement in clinical signs, symptoms and polysomnography upon discharge. PEBP and other respiratory aids were weaned off at 3–6 months. Conclusions: The PEBP, combined with other respiratory support, is a useful modality in the treatment of obstructive sleep apnoea in infants with PRS.

Hirschsprung’s disease (HSCR) is a neurodevelopmental disorder characterized by the absence of nerves in intestine with strong genetic components. SLC6A20 was found to be associated with HSCR in Korean population waiting for replication in an independent cohort. In the present study, ten single nucleotide polymorphisms (SNPs) in the SLC6A20 were selected from Southern Chinese with 1470 HSCR cases and 1473 ethnically matched healthy controls. Our results indicated that SNP rs7640009 was associated with HSCR and SLC6A20 has a gene–dose effect in the extent of the aganglionic segment during enteric nervous system (ENS) development. It is the first time to reveal the relationship between SNP rs2191026 and HSCR-associated enterocolitis (HAEC) susceptibility.

This study aimed to investigate changes in types of dental arch form during adolescence and explore adolescent changes in size and form of dental arch. Hong Kong Chinese were recruited and digital dental arch models were obtained at ages 12, 15, and 18 years. Geometric morphometrics was used to investigate adolescent changes of dental arch form. There were 225 participants from whom digital models at all three age periods were available. Three types of dental arch form were identified through clustering. Significant changes (p

Background In contrast to the general population, outcome‐derived thresholds for diagnosing ambulatory hypertension in pregnancy are not yet available. We aimed to identify and compare outcome‐derived ambulatory blood pressure (BP) monitoring thresholds for adverse perinatal outcomes by using approaches related and not related to clinic BP in a southern Chinese population. Methods and Results Ambulatory BP monitoring was performed in a cohort of 1768 high‐risk participants in late pregnancy who were not taking antihypertensive medications. Participants were followed for composite maternal (severe complications) and neonatal (pregnancy loss, advanced neonatal care, and small for gestational age) outcomes. Modeling of clinic BP–unrelated approaches revealed a nonlinear threshold effect of ambulatory diastolic BP on the composite outcome, with increased risk for daytime ≥79 mm Hg and 24‐hour measurement ≥76 mm Hg. For other ambulatory BP components showing linear associations with outcome, the following thresholds were identified: 131 mm Hg for daytime systolic, 121 mm Hg for nighttime systolic, 130 mm Hg for 24‐hour systolic, and 73 mm Hg for night‐time diastolic BP. These thresholds unrelated to clinic BP were lower than the equivalents yielding a similar probability of outcome to clinic BP of 140/90 mm Hg and were comparable with equivalents to clinic BP of 130/80 mm Hg. Conclusions Using an outcome‐derived approach unrelated to clinic BP, we identified rounded thresholds to define ambulatory hypertension in at‐risk women in late pregnancy in a southern Chinese population as follows: 130/80 mm Hg for daytime, 120/75 mm Hg for nighttime, and 130/75 mm Hg for 24‐hour measurement. For wider clinical applicability and to align both nonpregnancy and pregnancy ambulatory BP monitoring with an outcomes‐based approach, prospective, multiethnic, international studies from early pregnancy onward will be required.

BACKGROUND Wilms tumor (WT) is the most common pediatric renal malignancy. Previous genome-wide association studies have identified that the LINC00673 rs11655237 C>T polymorphism is associated with the risk of several types of cancer. However, few studies have investigated the association between LINC00673 rs11655237 C>T and WT susceptibility. METHOD We genotyped LINC00673 rs11655237 C>T in 145 patients with WT and 531 cancer-free controls recruited from southern Chinese children. The strength of association was estimated by odds ratios (ORs) and 95% confidence intervals (CIs). RESULTS Our study indicated that there was no significant association between LINC00673 rs11655237 C>T polymorphism and WT risk under all the tested genetic models (CT vs CC: adjusted OR = 0.94, 95% CI = 0.63-1.40; TT vs CC: adjusted OR = 0.60, 95% CI = 0.22-1.59; TT/CT vs CC: adjusted OR = 0.89, 95% CI = 0.61-1.31; and TT vs CC/CT: adjusted OR = 0.61, 95% CI = 0.23-1.61). Further stratified analysis detected no significant association, either. CONCLUSION In conclusion, we failed to find any association between the LINC00673 rs11655237 C>T polymorphism and WT risk. This finding needs to be verified in larger studies and other populations.

Studies have shown that many genes that regulate cell migration are associated with susceptibility to recurrent miscarriage. Terminal differentiation‐induced non‐coding RNA (TINCR) regulates the migration and invasion of a variety of tumor cells and is associated with susceptibility to various diseases. However, whether the lncRNA TINCR polymorphism is associated with susceptibility to recurrent miscarriage is unclear. Therefore, we investigated the relationship between the rs2288947 A > G polymorphism of the lncRNA TINCR and susceptibility to recurrent abortion. We recruited 248 recurrent spontaneous abortion patients and 392 healthy control subjects from the Southern Chinese population and used the TaqMan method for genotyping. There was no evidence that this polymorphism is associated with recurrent miscarriage (AG vs AA: adjusted OR = 0.904, 95% CI = 0.647‐1.264, P = 0.5552; GG and AA: adjusted OR = 0.871, 95% CI = 0.475‐1.597, P = 0.6542; dominant model: AG/GG vs AA: adjusted OR = 0.898, 95% CI = 0.653‐1.236, P = 0.5101; and recessive model: GG vs AA/AG: adjusted OR = 0.910, 95% CI = 0.505‐1.639, P = 0.7527). The stratified analysis also showed no significant associations. This study suggests that the rs2288947 A > G polymorphism of the lncRNA TINCR may not be associated with recurrent miscarriage in a Southern Chinese population. A larger multicenter study is needed to confirm our conclusions.

The novel KIR3DL3*04802 allele differs from the closest allele KIR3DL3*04801 by a single synonymous mutation.

Metal contaminants in drinking water pose a potential threat to human health. Metal elements (Fe, Mn, Cu, Cr, Cd, As, and Pb) in Shanzi Reservoir, China, a drinking water source for nearby cities, were measured in 2013 and 2014. The distribution characteristics of metal elements in water were identified and a health risk assessment model was used to evaluate potential harm. Principal component analysis and cluster analysis were used to determine the main sources of metal pollutants. The results showed that Pb and As exceeded the standard at some sampling sites, whereas other metal elements met the drinking water standards. The spatial distribution of metal elements was extremely uneven and might be affected by either the geochemical environment or human activities in the study region. The total risk value of metals (5 × 10-5 a-1 ) was below the recommended value of the United States Environmental Protection Agency (USEPA), the total cancer risk was higher than the total noncancer risk, and both risks were higher for children than for adults. Arsenic was the priority control pollutant, and the priority control site was located upstream of the reservoir. Source analysis showed that Fe, Mn, and Cu were mainly from soil formation and stone mining and processing industries; Pb and As were mainly from agricultural activities, free dumping and burning of domestic garbage, and atmospheric deposition from transportation emissions; Cd was mainly from agricultural application of fertilizers and pesticides; and Cr was from the stone mining and processing industry and from the electroplating and metal manufacturing industries. Integr Environ Assess Manag 2020;16:342-352. © 2019 SETAC.

Bats are the likely zoonotic origin of several coronaviruses (CoVs) that infect humans, including SARS-CoV-1 and SARS-CoV-2, both of which have caused large-scale epidemics. The number of CoVs present in an area is strongly correlated with local bat species richness, which in turn is affected by climatic conditions that drive the geographical distributions of species. Here we show that the southern Chinese Yunnan province and neighbouring regions in Myanmar and Laos form a global hotspot of climate change-driven increase in bat richness. This region coincides with the likely spatial origin of bat-borne ancestors of SARS-CoV-1 and SARS-CoV-2. Accounting for an estimated increase in the order of 100 bat-borne CoVs across the region, climate change may have played a key role in the evolution or transmission of the two SARS CoVs., Graphical abstract Unlabelled Image

The goal of this study was to investigate the use of concurrent genetic screening together with standard newborn hearing screening (NHS) in an effort to provide a scientific basis for the beneficial use of concurrent genetic hearing screening in newborns. Our aim was to improve the neonatal detection rate of hearing impairment and the potential for hearing loss, allowing for increased early intervention and potentially allowing for prevention of later onset hearing loss. This information could also be used to increase the effectiveness of genetic counseling regarding hearing impairment.A total of 9317 neonates from Children's Hospital of Dongguan and Dongguan People's Hospital were included in this study between January 2015 and October 2015. Twenty hotspot hearing-associated mutations of four common deafness- susceptibility genes (GJB2, GJB3, SLC26A4, and MTRNR1) were analyzed by matrix-assisted laser desorption-ionization time-of-flight mass spectrometry (MALDI-TOF-MS). The results of genetic screening and NHS were concurrently analyzed.A total of 129 infants (1.38%) exhibited hearing loss as determined by otoacoustic emission (OAE) testing. The genetic screening revealed that 348 (3.74%) individuals had at least one mutant allele. In total, 34 (0.36%) of the neonates carried a causal complement of mutations. The overwhelming majority of the genetically referred newborns passed the OAE hearing screening, but could be at risk for later hearing loss.This study furthers the understanding of the etiology of hearing loss and proves that it is beneficial to use genetic screening along with OAE screening of neonates to improve detection rates of at-risk infants. Our results show that this concurrent testing allows for better early identification of infants at risk for hearing loss, which may occur before speech and language development. Prevention of hearing loss can be achieved by avoiding the use of antibiotics containing amino glycosides in infants whose mutations make them extremely sensitive to these antibiotics. This information is also useful in genetic counseling, providing region-specific mutation information.

This study aimed to investigate the relationship between the intestinal Lactobacillus species and diet of elderly subjects in a longevity area in Southern China. Healthy elderly subjects ranging from 80 to 99 years old were respectively selected from the regions of Bama and Nanning, Guangxi, China. The nested polymerase chain reaction and denaturing gradient gel electrophoresis (PCR-DGGE) technology was used to analyze the intestinal Lactobacillus community structure. Results showed that Weissella confusa, L. mucosae, L. crispatus, L. salivarius, and L. delbrueckii were the representative Lactobacillus of elderly subjects. Among them, L. crispatus and L. delbrueckii were the dominant Lactobacillus of all species. In comparison to Nanning elderly subjects, the detection frequencies of W. confusa and L. salivarius were significantly increased in Bama elderly subjects (P < 0.01), whereas L. mucosae was significantly decreased (P < 0.01). Interestingly, it was also found that there were 4 kinds of representative Lactobacillus, which were significantly correlated with dietary fiber. W. confusa (P < 0.01) and L. salivarius (P < 0.05) were significantly positively correlated with the intake of dietary fiber, while L. mucosae (P < 0.01) and L. crispatus (P < 0.05) were significantly negatively correlated with the intake of dietary fiber, respectively. Results confirmed that different diets had obvious effects on the intestinal Lactobacillus community structure of elderly subjects in Southern China, which may provide a certain theoretical basis for the elderly's healthy food strategic design and probiotics product development.

BCL2L1 and MCL1 are key anti‐apoptotic genes, and critical for cancer progression. The prognostic values of BCL2L1 and MCL1 copy‐number variations (CNVs) in non‐small‐cell lung cancer (NSCLC) remain largely unknown. Somatic CNVs in BCL2L1 and MCL1 genes were tested in tumor tissues from 516 NSCLC patients in southern China; afterward, survival analyses were conducted with overall survival (OS) as outcome. Additionally, the associations between CNVs and mRNA expression levels were explored using data from 986 NSCLC patients in the Cancer Genome Atlas project. It was found that amplifications of BCL2L1 and MCL1 were associated with unfavorable OS of NSCLC, with adjusted hazards ratio of 1.62 (95% confident interval [CI] = 1.10–2.40; P = 0.015) and 1.39 (95% CI = 1.05–1.84; P = 0.020), respectively. Amplifications of MCL1, but not BCL2L1, were related with higher mRNA expression levels of corresponding gene, compared with non‐amplifications (P = 0.005). Interestingly, after incorporating with MCL1 CNV status, clinical variables (age, sex, TNM stage, and surgical approach) showed an improved discriminatory ability to classify OS (area under curve increased from 72.2% to 74.1%; P = 0.042, DeLong's test). Overall, MCL1 CNV might be a prognostic biomarker for NSCLC, and additional investigations are needed to validate our findings.

Background miRNAs play important roles in a variety of diseases. Thus, the association between miRNA‐196a2 rs11614913 T>C polymorphism and Kawasaki disease susceptibility is still unknown. Methods We included 532 children with Kawasaki disease and 623 healthy children from South China, and their DNA was extracted for genotyping by TaqMan methodology. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to estimate the strength of association. Results No significant associations were observed between the miRNA‐196a2 rs11614913 T>C polymorphisms and Kawasaki disease risk (TC vs TT: adjusted OR = 1.04, 95% CI = 0.79‐1.37; CC vs TT: adjusted OR = 0.87, 95% CI = 0.63‐1.21; dominant model: adjusted OR = 0.99, 95% CI = 0.76‐1.27; and recessive model: adjusted OR = 0.85, 95% CI = 0.64‐1.13). There was also no significant correlation found in stratified analyses. Conclusion This study suggests that miRNA‐196a2 rs11614913 T>C may not be associated with Kawasaki disease susceptibility in a southern Chinese population. Larger, multicenter studies are needed to confirm our conclusions.

Aim. To develop predictive equations of lean body mass (LBM) suitable for healthy southern Chinese adults with a large sample. LBM measured by dual-energy X-ray absorptiometry (DXA) are considered as the standard ones. Methods. Retrospective analysis was conducted on the consecutive people who did total body measurement with DXA from July 2005 to October 2015. People with diseases that might affect LBM were excluded and overall 12,194 subjects were included in this study. Information about the 10,683 subjects (2,987 males and 7,696 females) from July 2005 to November 2014 was used to establish equations. These subjects were grouped by sex and then subdivided according to their body mass index (BMI). The female group was divided into another two subgroups: the premenopausal and postmenopausal subgroups. Equations were developed through stepwise multilinear regression analysis of height, weight, age, and BMI. Information about the 1,511 subjects (395 males and 1116 females) from December 2014 to October 2015 was used to verify the established equations. Results. BMI, height, weight, and age were introduced into the equations as independent variables in the male group, while age was proved to have no influence on LBM in the female group. Regrouping according to BMI or menopause did not increase the predictive ability of equations. Good agreement between LBM evaluated by equation (LBM_PE) and LBM measured by DXA (LBM_DXA) was observed in both the male and female groups. Conclusion. Predictive equations of LBM suitable for healthy southern Chinese adults are established with a large sample. BMI was related to LBM content; however, there is no need for further group based on BMI or menopause while developing LBM questions.

The novel KIR3DL3*062 allele differs from the closest allele KIR3DL3*02602 by a single missense mutation.

The purpose of the study was to evaluate the association profiles of the SIX6 locus with primary open-angle glaucoma (POAG) in southern Chinese and Japanese. In this study, we tested single marker and haplotype-based associations of 11 tagging single nucleotide polymorphisms (SNPs) covering the SIX6 locus with POAG in a Hong Kong Chinese cohort (N = 1402). A novel SNP (i.e., rs12436579) and two SNPs (i.e., rs33912345 and rs10483727) from previous genome-wide association studies were further tested in a Chinese cohort from Shantou (N = 888) and a Japanese cohort from Osaka (N = 463). Results from the three cohorts were meta-analysed using a random-effect model. We found rs12436579, which has not been previously reported, was associated with POAG in Hong Kong and Shantou Chinese (Pcombined = 4.3 × 10−5, OR = 0.72, I2 = 0). Additionally, we replicated the association of one known SNP, rs33912345 (Pcombined = 0.0061, OR = 0.69, I2 = 45%), with POAG in the Chinese cohorts but not in the Japanese cohort (P > 0.6). Another known SNP, rs10483727, was nominally associated with POAG in the two Chinese cohorts (Pcombined = 0.017, OR = 0.70, I2 = 53%). All these three SNPs were significantly associated with POAG when the three cohorts were combined in meta-analysis (Pcombined

Until now, few studies have analyzed the effects of temperature on cardiovascular disease (CVD) death at different time points. In this study, we chose 9 different cities in the subtropical and tropical areas of China and analyzed the correlation between temperature at different time points and CVD mortality. We completed this study in two steps. First, we analyzed different time trend decomposition data related to CVD mortality in different populations within the 9 selected cities using empirical mode decomposition (EMD). Second, we created a regression fitting analysis of CVD mortality and temperatures at different time periods. The results showed that the CVD mortality of subtropical and tropical areas in southern Chinese cities represented spatial heterogeneity. The CVD mortality rates in Beihai, Hefei and Nanning showed rising trends, whereas the CVD mortality rates in Haikou, Guilin and Changde appeared to be decreasing. At the daily, seasonal and year time scales, low temperatures were negatively correlated with CVD mortality. Other than at the daily time scale, high temperatures did not significantly influence CVD mortality. This article will help to develop appropriate measures to reduce temperature-related mortality risk in different populations within the subtropical and tropical regions of China.

Polymorphisms in genes may affect its expression and alter individual susceptibility to cancer. In this study, we investigate associations between CMTM family gene polymorphisms and hepatocellular carcinoma (HCC) in a southern Chinese population. Ten selected single-nucleotide polymorphisms (SNPs) in CMTM family genes were genotyped in 315 HCC patients and 315 cancer-free controls using Sequenom MassARRAY platform and the associations of the selected SNPs with HCC risk were evaluated. We found individuals with the rs164207 AA genotypes had a significantly increased risk of HCC than those with CC genotypes (adjusted OR = 2.794, 95% CI = 1.143-6.828). Also, individuals with the rs3811178 GG genotypes showed a significant association with increased risk of HCC when compared with the AA genotypes (adjusted OR = 2.578, 95% CI = 1.114-5.969). Furthermore, there was also a significantly increased risk of HCC when combined risk genotypes of these loci, i.e., rs164207 AA, CA and rs3811178 GG, GA. Compared with the low-risk group (0 risk genotypes), the high-risk group (2 risk genotypes) was at significantly increased risk of HCC (adjusted OR = 3.339, 95% CI = 1.119-9.964, p = 0.031). Our results suggest that polymorphisms of rs3811178 in CMTM5 and rs164207 in CMTM6 might contribute to the genetic susceptibility of HCC in the southern Chinese population. Further well-designed studies with larger sample sizes are needed to confirm our findings.

miR-146a plays a critical role in innate immune and inflammatory responses. Kawasaki disease involves immune-mediated inflammatory responses, which leads to vascular endothelial injury. However, there has been no study on the association between the miR-146a rs2910164 C>G polymorphism and Kawasaki disease risk. We enrolled 532 Kawasaki disease patients and 623 healthy controls from southern Chinese population, and the miR-146a rs2910164 C>G polymorphism was genotyped by the TaqMan method. There was no evidence that this polymorphism was associated with Kawasaki disease. Stratified analysis also showed no significant association. The present study indicates that the miR-146a rs2910164 C>G polymorphism may not be associated with Kawasaki disease in the southern Chinese population. Larger multicenter studies are needed to confirm our conclusions.

The aim of this study was to compare the accuracy of the Demirjian method and the Demirjian method as revised by Willems for age estimation based on orthopantomograms from central southern Chinese Han population aged 8–16 years. Discrepancies between chronological and estimated ages were statistically evaluated by analyzing 1249 orthopantomograms from 603 girls and 646 boys. Using the Demirjian method, the mean age estimates underestimated chronological age by 0.03 years (p = 0.48) for girls and overestimated it by 0.03 years (p = 0.59) for boys; these differences with respect to chronological age were not statistically significant. In contrast, the Willems method underestimated chronological age by 0.54 years (p

Background The accuracy of estimated age should depend on the reference data sets (RDS) from which the maturity scores or Ages of Attainment (AoA) were obtained. This study aimed to test the accuracy of age estimation from three different population specific dental reference datasets (RDS). Methods Two hundred and sixty six dental panoramic radiographs of subjects belonging to southern Chinese ethnicity were scored and dental age (DA) was estimated from three reference datasets: French-Canadian, United Kingdom (UK) Caucasian and southern Chinese. Statistical significance was set at p 0.05). The southern Chinese RDS estimated the age of 80% of subjects within ±12 months range, and 90% of subjects within ±18 months range (p

We genotyped 15 autosomal STRs loci in 1780 unrelated northeastern Thai individuals. Allele frequencies were computed and all of the loci reached Hardy-Weinberg equilibrium. The forensic parameter results showed high discrimination values which are suitable for forensic personal identification and paternity testing; the combined discrimination power and probability of excluding paternity were 0.9999999999999999999999 and 0.999998449, respectively. Genetic relatedness of northeastern Thais with comparable Thai and Asian populations using phylogenetic analysis revealed close genetic relationship between Mainland Southeast Asian populations and southern Chinese populations.

BackgroundFluid overload is frequently present in dialysis patients and one of the important predictors of patient outcome. This study aimed to investigate the influence of fluid overload on all-cause mortality and technique failure in Southern Chinese continuous ambulatory peritoneal dialysis (CAPD) patients.MethodsThis was a post hoc study from a cross-sectional survey originally designed to investigate the prevalence and associated risk factors of fluid overload defined by bioimpedance analysis (BIA) in CAPD patients from January 1, 2008, to December 31, 2009. All 307 CAPD patients completing the original study were followed up until December 31, 2012.ResultsWith a median follow-up period of 38.4 (19.2 - 47.9) months, 52 patients died. Patients with fluid overload (defined by extracellular water/total body water [ECW/TBW] ≥ 0.40) had a significantly higher peritonitis rate (0.016 vs 0.011 events/month exposure, p = 0.018) and cerebrovascular event rate (3.9 vs 1.1 events/100 patient years, p = 0.024) than the normal hydrated patients. Moreover, the results showed a significant rising of all-cause mortality (log-rank test = 5.59, p = 0.018), and a trend of increasing cardiovascular disease (CVD) mortality (log-rank test = 2.90, p = 0.089) and technique failure (log-rank test = 3.78, p = 0.052) in the patients with fluid overload. Fluid overload independently predicted all-cause mortality (hazard ratio [HR] = 12.98, 95%, confidence interval [CI] = 1.06 - 168.23, p = 0.042) and technique failure (HR = 13.56, 95% CI = 2.53 - 78.69, p = 0.007) in CAPD patients after adjustment for confounders.ConclusionsFluid overload defined by BIA was an independent predictor for all-cause mortality and technique failure in CAPD patients. Continuous ambulatory peritoneal dialysis patients with fluid overload had a higher peritonitis rate, cardiovascular event rate, and poorer clinical outcome than those patients with normal hydration.

Several hypotheses have been proposed to explain hypodontia of the various tooth types with evolutionary and anatomic models. Hypodontia of all primary canines in a healthy individual is exceptionally rare and has not been previously reported in the dental literature. This clinical report describes a 4-year-old southern Chinese female with the congenital absence of the primary canines in all quadrants. Furthermore, all of the permanent tooth germs excluding the third molars were evident on a panoramic radiograph and were developing consistent with the subject’s chronological age. This case serves as an excellent example to refute the conventional wisdom that “all primary canines can never go missing” and that all of the currently proposed hypotheses to explain hypodontia have limitations.

We evaluated the prognostic value of serum bilirubin in advanced nasopharyngeal carcinoma (NPC) patients.Seven-hundred fifty-nine advanced NPC patients treated with definitive chemoradiotherapy were retrospectively analyzed. Serum indirect bilirubin (IBIL) and direct bilirubin (DBIL) were measured before treatment. To evaluate different cutoff points for serum bilirubin, we utilized ROC curves. The Kaplan-Meier method and log-rank test were adopted to calculate and compare survival outcomes. Cox proportional hazard models were used to perform univariate and multivariate analyses.At 5 y, IBIL7.15 μmol/l were significantly associated with superior progression-free survival (PFS, 83.6% vs 70.3%; P .001), overall survival (OS, 88.6% vs 80.5%; P = .012), distant metastasis-free survival (DMFS, 90.3% vs 82.8%; P = .006), and locoregional relapse-free survival (LRFS, 92.1% vs 86.4%; P = .048) than IBIL ≤7.15 μmol/l. Similarly, patients with DBIL2.65 μmol/l had better prognosis across all outcomes than those of patients with DBIL ≤2.65 μmol/l (all P .05), except no difference was observed in LRFS (90.5% vs. 87.3%, P = .195). Multivariate analyses showed that IBIL7.15 μmol/l was an independent protective prognostic factor for PFS (HR, 0.57; 95% CI, 0.40-0.81; P = .002), OS (HR, 0.67; 95% CI, 0.43-0.92; P = .041), and DMFS (HR, 0.63; 95% CI, 0.40-0.98; P = .034); while serum DBIL only remained significant for PFS (HR, 0.63; 95% CI, 0.44-0.89; P = .009).Pretreatment IBIL and DBIL are potentially independent prognostic factors for patients with advanced NPC.

In this study, copy number variation (CNV) of NKG2C gene was investigated in 1129 normal, unrelated individuals representing two southern Chinese Han populations (Hunan Han and Guangdong Han), two northern Chinese populations (Inner Mongolia Han and Inner Mongolia Mongol) and one southeastern Chinese Han population (Fujian Han) using polymerase chain reaction-sequence-specific priming (PCR-SSP) method. CNV of NKG2C gene did not vary significantly among the five Chinese populations, with NKG2C gene deletion showing a frequency ranging from 0.2031 to 0.2688. Compared with worldwide ethnic groups, very significant difference was observed between the five Chinese populations and the Mexican mestizos (all P corrected = 0.0025), and between the Fujian Han population and the German population ( P corrected = 0.005). We further examined CNV of NKG2C and HLA-E allelic distribution in 653 patients afflicted with nasopharyngeal carcinoma (NPC) in Hunan province. Neither CNV of NKG2C nor HLA-E was associated with NPC. There was a trend of reduced NPC risk in individuals who were homozygous for both HLA-E ∗ 01:03 and NKG2C deletion (0.46% vs. 2.51%, P = 0.0076, P corrected = 0.0684, OR (95% CI) = 0.1794 (0.0473–0.6809)). Taken together, our results suggest that NKG2C deletion and HLA-E signalling pathway does not play a major role in determining genetic susceptibility to NPC.