A Case Report of Neonatal Lupus Erythematosus with Liver Function Damage and Cytomegalovirus Colonization.

BACKGROUND: Neonatal lupus erythematosus (NLE) is an acquired autoimmune disease. NLE with liver function damage and cytomegalovirus colonization is rarely reported. METHODS: This case describes a newborn male's laboratory testing found sustained liver function damage when he came to see the doctor due to oral candidiasis. The cause was identified through clinical symptoms, laboratory tests, auxiliary examinations, and family history of the patient. RESULTS: The final diagnosis of the child was NLE with liver function damage and cytomegalovirus colonization according to comprehensive analysis and follow-up observation. CONCLUSIONS: NLE and cytomegalovirus colonization can both lead to liver function damage. When the organ function of newborns is abnormal, it is necessary to promptly investigate the cause and determine whether it is NLE.

Squeezing Mechanical Analysis and Model Establishment of the Viscoelastic Rubber-Strip-Feeding Process of the Cold-Feed Rubber Extruder.

In the process of rubber extrusion, the feed structure directly affects the extrusion quality, extrusion uniformity, screw lateral force, and feed power consumption. Until now, the feed structure was mainly based on empirical designs, and there was no theoretical model for the optimal design of a feed structure. This paper focused on the squeezing mechanical analysis and model establishment of the feeding process in which viscoelastic rubber strips are passed through feed-wedge clearance in cold-feed extruders. The screw flight rotation squeezing process was simplified into a disc rotation squeezing process; the instantaneous squeezing velocity h˙(t) in the disc rotation squeezing model was derived according to feed wedge clearance geometry and the disc rotating speed. By transforming rotation squeezing into differential slab squeezing, mathematical expressions of the velocity distribution, pressure distribution, total squeezing force, and power consumption in the feeding process were derived in a rectangular coordinate system under isothermal and quasi-steady assumptions and certain boundary conditions by using balance equations and a Newtonian viscous constitutive relation. Theoretical calculations and experimental values showed the same trend. Through comparison, it was found that the power consumption (P3) caused by sliding friction is about 200-900 W according to theoretical calculations, while the experimental test results show it to be about 300-700 W. Additionally, the difference between theoretical pressure value and the experimental pressure value can be controlled within 5-15%. This could reflect the main factors that affect the feeding process, so could be used for analyses of actual feeding problems, and to contribute to rough quantitative descriptions of the feeding process, finite element simulation, and the optimization of the feeding structure.

Estimation of homocysteine concentration as an indicator of foetal death in pregnant Chinese women with preeclampsia: A case-control study.

INTRODUCTION: This study evaluated whether changes in homocysteine concentrations in pregnant women with preeclampsia (PE) might be useful for predicting foetal death. MATERIALS AND METHODS: This study evaluated 1,368 PE women at two Chinese centres. Medical records were reviewed to collect data regarding maternal age, homocysteine concentrations and other clinical parameters. RESULTS: Maternal serum homocysteine concentrations were significantly higher in the group with PE than control. Significant differences (p < 0.05) were also observed between the foetal death and survival groups in terms of body mass index, neonatal weight, previous deliveries, gestation length and adverse pregnancy history. Multivariate logistic regression analysis revealed that upper-quartile homocysteine concentration was a significant risk factor of foetal death in the group with PE, and overall survival rate of patients with high homocysteine concentrations during pregnancy was significantly lower than those with low level (p < 0.05). CONCLUSIONS: Our results indicate that foetal death was associated with upper-quartile homocysteine concentrations in the group with PE, it can be an indicator of foetal death throughout the pregnancy.

Development and validation of a nomogram for predicting the probability of new vertebral compression fractures after vertebral augmentation of osteoporotic vertebral compression fractures.

INTRODUCTION: New vertebral compression fractures (NVCFs) are adverse events after vertebral augmentation of osteoporotic vertebral compression fractures (OVCFs). Predicting the risk of vertebral compression fractures (VCFs) accurately after surgery is still a significant challenge for spinal surgeons. The aim of our study was to identify risk factors of NCVFs after vertebral augmentation of OVCFs and develop a nomogram. METHODS: We retrospectively reviewed the medical records of patients with OVCFs who underwent percutaneous vertebroplasty (PVP) or percutaneous kyphoplasty (PKP). Patients were divided into the NVCFs group and control group, base on the patients with or without NVCFs within 2 years follow-up period after surgery. A training cohort of 403 patients diagnosed in our hospital from June 2014 to December 2016 was used for model development. The independent predictive factors of postoperative VCFs were determined by least absolute shrinkage and selection operator (LASSO) logistic regression, univariate analysis and multivariate logistic regression analysis. We provided a nomogram for predicting the risk of NVCFs based on independent predictive factors and used the receiver operating characteristic curve (ROC), calibration curve, and decision curve analyses (DCA) to evaluated the prognostic performance. After internal validation, the nomogram was further evaluated in a validation cohort of 159 patients included between January 2017 and June 2018. RESULTS: Of the 403 patients in the training cohort, 49(12.16%) were NVCFs at an average of 16.7 (1 to 23) months within the 2 years follow-up period. Of the 159 patients in the validation cohort, 17(10.69%) were NVCFs at an average of 8.7 (1 to 15) months within the 2 years follow-up period. In the training cohort, the proportions of elderly patients older than 80 years were 32.65 and 13.56% in the NVCFs and control group, respectively (p = 0.003). The percentages of patients with previous fracture history were 26.53 and 12.71% in the NVCFs and control group, respectively (p = 0.010). The volume of bone cement were 4.43 ± 0.88 mL and 4.02 ± 1.13 mL in the NVCFs and Control group, respectively (p = 0.014). The differences have statistical significance in the bone cement leakage, bone cement dispersion, contact with endplate, anti-osteoporotic treatment, post-op Cobb angle and Cobb angle restoration characteristics between the two groups. The model was established by multivariate logistic regression analysis to obtain independent predictors. In the training and validation cohort, the AUC of the nomogram were 0.882 (95% confidence interval (CI), 0.824-0.940) and 0.869 (95% CI: 0.811-0.927), respectively. The C index of the nomogram was 0.886 in the training cohort and 0.893 in the validation cohort, demonstrating good discrimination. In the training and validation cohort, the optimal calibration curves demonstrated the coincidence between prediction and actual status, and the decision curve analysis demonstrated that the full model had the highest clinical net benefit across the entire range of threshold probabilities. CONCLUSION: A nomogram for predicting NVCFs after vertebral augmentation was established and validated. For patients evaluated by this model with predictive high risk of developing postoperative VCFs, postoperative management strategies such as enhance osteoporosis-related health education and management should be considered.

Clinical observation of two bone cement distribution modes after percutaneous vertebroplasty for osteoporotic vertebral compression fractures.

BACKGROUND: Current findings suggest that percutaneous vertebroplasty(PVP) is a suitable therapeutic approach for osteoporotic vertebral compression fractures (OVCFs). The present retrospective study aimed to investigate the differences in clinical efficacy and related complications between the two bone cement distribution modes. METHODS: We retrospectively reviewed the medical records of the patients with single-segment OVCFs who underwent bilateral percutaneous vertebroplasty. Patients were divided into blocky and spongy group according to the type of postoperative bone cement distribution. Clinical efficacy and related complications was compared between the two bone cement distribution modes on 24 h after the operation and last follow-up. RESULTS: A total of 329 patients with an average follow up time of 17.54 months were included. The blocky group included 131 patients, 109 females(83.2 %) and 22 males(16.8 %) with a median age of 72.69 ± 7.76 years, while the Spongy group was made up of 198 patients, 38 females(19.2 %) and 160 males(80.8 %) with a median age of 71.11 ± 7.36 years. The VAS and ODI after operation improved significantly in both two groups. The VAS and ODI in the spongy group was significantly lower than that in the blocky group, 24 h postoperatively, and at the last follow-up. There were 42 cases (12.8 %) of adjacent vertebral fractures, 26 cases (19.8 %) in the blocky group and 16 cases (8.1 %) in the spongy group. There were 57 cases (17.3 %) of bone cement leakage, 18 cases (13.7 %) in blocky group and 39 cases (19.7 %) in the spongy group. At 24 h postoperatively and at the last follow-up, local kyphosis and anterior vertebral height were significantly corrected in both groups, but gradually decreased over time, and the degree of correction was significantly higher in the spongy group than in the block group. The change of local kyphosis and loss of vertebral body height were also less severe in the spongy group at the last follow-up. CONCLUSIONS: Compared with blocky group, spongy group can better maintain the height of the vertebral body, correct local kyphosis, reduce the risk of the vertebral body recompression, long-term pain and restore functions.

Performance evaluation of optical platelet counting of BC-6000Plus automated hematology analyzer.

BACKGROUND: The BC-6000Plus (Mindray, Shenzhen, China) is a recently developed hematology analyzer that utilizes fluorescent technology. Based on fluorescent nucleic acid stain and optical detection, the optical platelet counting (PLT-O) on the BC-6000Plus has strong anti-interference potential in platelet (PLT) detection. Its Auto 8×PLT-O Counting Tech can be automatically triggered in low-PLT samples, which enables the PLT-O on the BC-6000Plus to count low PLT more efficiently. Here, we evaluated the performance of the BC-6000Plus automated hematology analyzer in optical PLT counting. METHODS: The basic features (including blank counting, carryover, trueness, and accuracy) of the BC-6000Plus for PLT counting were evaluated according to the Analytical Quality Specifications for Routine Tests in Clinical Hematology (WST 406-2012). Low-PLT samples with a PLT count of below 100×109/L were selected for repeatability tests. Meanwhile, the potential correlations of BC-6000Plus with the XN-L 350 and manual microscopy within different PLT ranges or under interferences of small red blood cells (RBCs) or PLT aggregation were analyzed. RESULTS: The PLT-O on BC-6000Plus met the technical requirements of PLT counting in terms of blank count, carryover, trueness, and accuracy. The repeatability of the enhanced mode (PLT-O 8×) on the BC-6000Plus was better than that of the XN-L 350 in three low PLT count ranges, including 10-20, 20-60, and 60-100 (×109/L). Under the interference-free conditions, the BC-6000Plus correlated well with the XN-L 350 in different PLT counting ranges. Under the interferences of small RBCs and PLT aggregation, the PLT-O on BC-6000Plus correlated better with microscopy than with the platelet impedance count (PLT-I). CONCLUSIONS: The PLT-O on BC-6000Plus can meet the technical requirements of PLT counting in terms of blank counting, carryover rate, trueness, and accuracy. The PLT-O 8× has good repeatability, correlates well with the XN-L 350, and demonstrates good anti-interference ability. It can thus meet the needs of blood cell analysis in clinical settings.

Assessing the lifetime performance index with Lomax distribution based on progressive type I interval censored sample.

In manufacturing industry, the lifetime performance index C L is applied to evaluate the larger-the-better quality features of products. It can quickly show whether the lifetime performance of products meets the desired level. In this article, first we obtain the maximum likelihood estimator of C L with two unknown parameters in the Lomax distribution on the basis of progressive type I interval censored sample. With the MLE we proposed, some asymptotic confidence intervals of C L are discussed by using the delta method. Furthermore, the MLE of C L is used to establish the hypothesis test procedure under a given lower specification limit L. In addition, we also conduct a hypothesis test procedure when the scale parameter in the Lomax distribution is given. Finally, we illustrate the proposed inspection procedures through a real example. The testing procedure algorithms presented in this paper are efficient and easy to implement.

Etiology and Outcome of non-immune Hydrops Fetalis in Southern China: report of 1004 cases.

Non-immune hydrops fetalis (NIHF) is a complex condition with a high mortality and morbidity rate. Here we report the etiology and outcome of 1004 fetuses with NIHF, in a large single Maternal and Children's hospital of Southern China, since the year of 2009 to 2016. Among these 1004 fetuses with NIHF, the etiology was identified prenatally in 722 of them (72%). The most common ones were hematologic diseases and chromosomal abnormalities. There were eight spontaneous abortions, 18 intrauterine fetal demise, 672 pregnancy terminations and 87 were lost to follow-up. 219 of the 1004 fetuses were live-born and the overall survival rate was 21.8% at this point. After birth 16 perinatal or early neonatal deaths were encountered and five lost to follow-up. Of the remaining 198 newborns, 153 thrived without apparent morbidity. The most significant factors associated with mortality were prematurity and low birthweight. In conclusion, we described the largest report of underlying causes and outcome of NIHF in Southern China. Etiologies were identified for 72% of 1004 fetuses with NIHF. And two poor prognostic factors for survival are preterm birth at less than 36.5 weeks and birthweight lower than 2575 g respectively.

[Establishment of QAMS method with dehydroandrographolide as internal reference substance for quality control of Andrographis Herba].

To solve the problems of the poor resolution of chromatographic separation,the weak durability of the relative correction factors,and the low accuracy of content determination results in the quantitative analysis of multi-components by single-marker( QAMS) method with andrographolide as the internal reference substance in the existing research of Andrographis Herba,a new QAMS method using dehydroandrographolide as the internal reference substance was established for the first time in this study. This new method can be used to simultaneously determine four diterpene lactones,including andrographolide( A),neoandrographolide( B),14-deoxyandrographolide( C),and dehydroandrographolide( S) through the optimization of chromatographic conditions and systematic investigation of methodology. At the present HPLC chromatographic conditions,four components could be well separated( R > 1. 5),and the methodology validations could satisfy the requirement of quantitative analysis. The relative correction factors( RCFs) of fA/S,fB/S,fC/S were determined as 0. 65,0. 54,0. 78,respectively. The relative standard deviations( RSDs) of their RCFs ranged between 1. 3%-5. 1%,0. 25%-0. 33%,0. 070%-0. 15%,0. 070%-0. 22%,respectively with three brands of HPLC instruments,five brands of C18 column,different flow rates( 0. 9,1. 0,1. 1 m L·min~(-1)),and different column temperatures( 25,30,35 ℃),indicating good durability of the RCFs. The relative retention value( RRV) method was used to locate the chromatographic peak of the components to be determined.The RRVs of rA/S,rB/S,and rC/Swere 0. 44,0. 86,0. 97,respectively. The RSDs of the RRVs ranged between 0. 030%-1. 6% with different HPLC instruments and columns,showing accurate peak location. The present QAMS method and the external standard method( ESM)were both used to determine the contents of four diterpene lactones from Andrographis Herba( 6 batches of medicinal materials and 18 batches of cut crude drugs). The relative errors of the determined content results between two methods were less than 2. 0%. It demonstrated that there was no significant difference in content results between these two methods,indicating good accuracy of the present QAMS method. Therefore,in this study,an accurate and highly durable QAMS method using dehydroandrographolide as the internal reference substance was established for simultaneous determination of four diterpene lactones. This method could be used to effectively control the quality of Andrographis Herba and provide technical basis for the formulation of traditional Chinese medicine industry standard and improvement of the Chinese Pharmacopoeia standard of Andrographis Herba.

The higher serum endocan levels may be a risk factor for the onset of cardiovascular disease: A meta-analysis.

OBJECTIVE: Endothelial dysfunction was widely regarded as the initial lesion in the multifactorial pathogenesis of cardiovascular disease (CVD). Serum endocan, a novel endothelial dysfunction biochemical marker, is involved in the development of CVD. Here, we fulfilled a meta-analysis to evaluate the association between CVD and serum endocan levels. METHOD: The relevant published literature was searched through large literature databases, including PubMed, Embase, Cochrane Library, SinoMed, and Web of Science, up to June 1, 2018. The data were extracted from the studies. Stata software was used to perform a meta-analysis. RESULT: Fifteen original studies with a total of 1839 patients and 1258 controls fulfilled the inclusion criteria and were included in the study dataset. Meta-analysis showed that the levels of serum endocan in patients with hypertension, coronary artery disease, and coronary slow flow were higher than those in the control group. The pooled standardized mean differences and 95% confidence intervals of endocan concentrations in those 3 groups were 0.53 [0.19-0.86], P < .01; 0.99 [0.51-1.39], P < .01; and 0.62 [0.45-0.78], P < .01, respectively. Further analysis showed that the level of serum endocan in hypertension patients with coronary artery disease was higher than that in patients with hypertension (0.61 [0.30-0.92], P < .01). Sensitivity analysis and subgroup analysis were use to confirm the above results. CONCLUSIONS: In this meta-analysis, we further confirmed that serum endocan level was significantly increased in the CVD population. The high serum endocan level may be one of the risk factors for CVD.

Genetic Testing and Pregnancy Outcome Analysis of 362 Fetuses with Congenital Heart Disease Identified by Prenatal Ultrasound / Análise de Teste Genético e de Desfecho da Gestação de 362 Fetos com Cardiopatia Congênita Identificados por Ultrassom Pré-Natal

Abstract Background: Congenital heart defects (CHD), as the most common congenital anomaly, have been reported to be associated with chromosomal abnormalities. Currently, patients with CHD are routinely offered karyotyping and chromosomal microarray (CMA) testing, but the genotype-phenotype relationship has not yet been fully established. Objective: To determine the type and frequency of chromosomal abnormalities in fetuses with CHD and to analyze pregnancy outcomes of fetuses with heart abnormalities caused by different genetic factors. Methods: A total of 362 cases of CHD were enrolled from 2009 to 2016. Detailed ultrasound and laboratory examinations, including karyotyping and CMA, were performed. Outcome was obtained from discharge summaries. Results: Of the 362 fetuses, 220 were found with an isolated CHD, and 142 had CHD with extracardiac anomaly. Among these 362 fetuses, 140 were identified with a genetic cause, including 111 cases with aneuploidy, 10 cases with abnormality of chromosomal structure by karyotyping and 19 cases with pathogenic or likely pathogenic copy-number variations (CNVs) by CMA. The detection rate is close to 38.7%. Only one (identified as trisomy 18 syndrome) in 140 positive cases resulted in perinatal death, with the others being induced. The remaining 222 cases had negative results for both genetic testing and of these cases, 56 resulted in induced labor, and 77 had natural childbirth or caesarean births. The pregnancy outcome of the remaining 89 cases was uncertain. Conclusions: Karyotyping and CMA are effective and accurate prenatal genetic techniques for identifying fetal chromosomal abnormalities associated with cardiac defects, and this can assist clinical doctors to perform appropriate genetic counselling with regard to the etiology and outcome of CHD.

Resumo Fundamento: As cardiopatias congênitas (CCs) são as anomalias congênitas mais comuns, e têm sido associadas a anormalidades cromossômicas. Atualmente, a cariotipagem e a análise cromossômica por microarray (CMA) são oferecidas rotineiramente aos pacientes, mas a relação genótipo-fenótipo ainda não foi totalmente estabelecida. Objetivo: Determinar o tipo e a frequência das anomalias cromossômicas em fetos com CC e analisar os desfechos da gestação de fetos com anormalidades cardíacas causadas por diferentes fatores genéticos. Métodos: No total, foram admitidos 362 casos de CC entre 2009 e 2016. Ultrassonografia e exames laboratoriais detalhados foram realizados, incluindo cariotipagem e CMA. O resultado foi obtido a partir das folhas de epicrise. Resultados: Dos 362 fetos, 220 apresentaram doença coronariana isolada e 142 apresentaram doença coronariana com anomalia extracardíaca. Entre esses 362 fetos, foram identificados 140 com causa genética, incluindo 111 casos com aneuploidia, 10 casos com anormalidade da estrutura cromossômica por cariotipagem e 19 casos com variações no número de cópias (CNVs) patogênicas ou provavelmente patogênicas por CMA. A taxa de detecção é de aproximadamente 38,7%. Apenas um (identificado como síndrome da trissomia do cromossomo 18) em 140 casos positivos resultou em morte perinatal, com as demais sendo induzidas. Os 222 casos restantes tiveram resultados negativos para ambos os testes genéticos e, destes, 56 resultaram em trabalho de parto induzido e 77 tiveram partos naturais ou cesarianas. O desfecho da gravidez dos 89 casos restantes foi incerto. Conclusões: A cariotipagem e a CMA são técnicas genéticas pré-natais eficazes e precisas para a identificação de anomalias cromossômicas fetais associadas a defeitos cardíacos, e isso pode ajudar os médicos a realizar aconselhamento genético adequado com relação à etiologia e ao desfecho das cardiopatias congênitas.

Genetic Testing and Pregnancy Outcome Analysis of 362 Fetuses with Congenital Heart Disease Identified by Prenatal Ultrasound.

BACKGROUND: Congenital heart defects (CHD), as the most common congenital anomaly, have been reported to be associated with chromosomal abnormalities. Currently, patients with CHD are routinely offered karyotyping and chromosomal microarray (CMA) testing, but the genotype-phenotype relationship has not yet been fully established. OBJECTIVE: To determine the type and frequency of chromosomal abnormalities in fetuses with CHD and to analyze pregnancy outcomes of fetuses with heart abnormalities caused by different genetic factors. METHODS: A total of 362 cases of CHD were enrolled from 2009 to 2016. Detailed ultrasound and laboratory examinations, including karyotyping and CMA, were performed. Outcome was obtained from discharge summaries. RESULTS: Of the 362 fetuses, 220 were found with an isolated CHD, and 142 had CHD with extracardiac anomaly. Among these 362 fetuses, 140 were identified with a genetic cause, including 111 cases with aneuploidy, 10 cases with abnormality of chromosomal structure by karyotyping and 19 cases with pathogenic or likely pathogenic copy-number variations (CNVs) by CMA. The detection rate is close to 38.7%. Only one (identified as trisomy 18 syndrome) in 140 positive cases resulted in perinatal death, with the others being induced. The remaining 222 cases had negative results for both genetic testing and of these cases, 56 resulted in induced labor, and 77 had natural childbirth or caesarean births. The pregnancy outcome of the remaining 89 cases was uncertain. CONCLUSIONS: Karyotyping and CMA are effective and accurate prenatal genetic techniques for identifying fetal chromosomal abnormalities associated with cardiac defects, and this can assist clinical doctors to perform appropriate genetic counselling with regard to the etiology and outcome of CHD.

The Efficacy and Safety of Intermittent Low-Dose Urokinase Thrombolysis for the Treatment of Senile Acute Intermediate-High-Risk Pulmonary Embolism: A Pilot Trial.

Thrombolysis and anticoagulation were the main treatment methods for acute pulmonary embolism. However, the use of thrombolysis drugs may lead to bleeding complications. We compared intermittent low-dose urokinase (UK) and alteplase (recombinant tissue plasminogen activator [rt-PA]) in normotensive patients with intermediate-high-risk pulmonary embolism. The UK group was treated with intravenous UK 10 000 U/kg once a day for 7 days. The rt-PA group was given alteplase 50 mg by intravenous injection within 2 hours of admission. After thrombolytic therapy, 48 patients were included in this trial. Compared with before treatment, right and left ventricular diastolic diameter ratio, systolic pulmonary artery pressure, and cardiac troponin I of the 2 groups all significantly decreased 8 and 14 days after treatment, which indicated that right heart function improved. Total efficacy rates for the UK group 8 and 14 days after treatment (79.2%, 87.5%) and the rt-PA group (75.0%, 91.67%) were not significantly different. Adverse bleeding reactions were higher in the rt-PA group (20.8%) than in the UK group (8.3%). This pilot study indicates that intermittent low-dose UK thrombolysis is equally effective as rt-PA. However, future large-scale studies must also determine whether small doses of UK thrombolysis reduce the risk of bleeding.

Mutation screening of the GLIS3 gene in a cohort of 592 Chinese patients with congenital hypothyroidism.

OBJECTIVES: Defects in the human GLI-similar 3 (GLIS3) gene are reported to be a rare cause of congenital hypothyroidism (CH) and neonatal diabetes. The aim of this study was to examine the prevalence of GLIS3 mutation among CH patients in the Guangxi Zhuang Autonomous Region of China and to define the relationships between GLIS3 genotypes and clinical phenotypes. METHODS: Blood samples were collected from 592 patients with CH in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes. All exons of the GLIS3 gene with their exon-intron boundaries were screened by next-generation sequencing (NGS) and CNVplex®. Chromosomal microarray analysis (CMA) was performed to detect the existence of the adjacent gene deletion. RESULTS: NGS and CNVplex® analysis of GLIS3 in 592 CH patients revealed two different variations in two individuals (2/592, 0.3%). Patient 1 was the paternal allele of 9p24.3p23 heterozygous deletion including the whole GLIS3 gene, and patient 2 was heterozygous for c.2159G>A (p.R720Q) GLIS3 variant combined with compound heterozygous DUOX2 mutations (p.R683L/p.L1343F). CONCLUSIONS: Our study indicated that the prevalence of GLIS3 variations was 0.3% among studied Chinese CH patients. Multiple variations in one or more CH associated genes can be found in one patient. We found a novel GLIS3 variation c.2159G>A (p.R720Q), thereby expanding the variation spectrum of the gene.

The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH.

BACKGROUND: The incidence of congenital hypothyroidism (CH) differs significantly among different ethnicities and regions, and early differentiation of transient CH is important to avoid unnecessary prolonged treatment with L-T4. OBJECTIVE: To investigate the incidence of CH based on the newborn screening program in Guangxi Zhuang Autonomous Region, China, and to analyze the predictors that might allow for an early differentiation between permanent (P) and transient (T) CH. DESIGN AND METHODS: Data from newborn screening program over a seven-year period (January 2009 to January 2016) at Guangxi Maternal and Child Health Hospital are analyzed. Blood samples were collected on filter paper between 3 and 7 days after birth, and TSH level was measured by time-resolved fluorescence assay. Individuals with increased TSH (TSH ≥ 8 IU/L) levels detected by newborn screening were recalled for further evaluation. Serum TSH, FT3 and FT4 were determined by electrochemiluminescence assay using venous blood samples. Diagnosis of CH is based on elevated TSH levels (>10 IU/L) and decreased FT4 levels (<12 pmol/L). Patients with elevated TSH levels and normal FT4 levels were diagnosed as hyperthyrotropinemia. Permanent or transient CH was determined by using the results of thyroid function tests after temporary withdrawal of L-T4 therapy at approximately 2-3 years of age. RESULTS: Among 1,238,340 infants in the newborn screening program, 14,443 individuals were recalled for reevaluation (re-call rate 1.18%), 911 and 731 individuals were subsequently determined to have hyperthyrotropinemia and CH respectively; thus, a prevalence of 1:1359 and 1:1694 for hyperthyrotropinemia and CH. Of the 731 patients with CH, 161 patients were diagnosed with permanent CH (PCH), and 159 patients were diagnosed with transient CH (TCH), the other 411 patients are too young to determine their subtypes. Patients with PCH required an increasing dose of L-T4 during the first few years, whereas patients with TCH required a decreased dose of L-T4. The TSH levels at diagnosis and the dose of L-T4 used were significantly higher in PCH cases than in transient cases. The FT4 levels at diagnosis were significantly lower in PCH cases than in TCH cases. The TSH levels at diagnosis, FT4 levels at diagnosis and L-T4 doses at 90 days were evaluated as predictors for differentiating PCH and TCH, and their accuracy at their respective optimal cutoffs were determined to be 60.6%, 66.7% and 93.9%, respectively. CONCLUSIONS: The CH incidence in Guangxi Zhuang Autonomous Region is slightly higher (1:1694) compared to the worldwide levels (1/2000-1/4000). The PCH and TCH ratio is close to 1; thus, the estimated PCH incidence is 1/3388, which is similar to reported worldwide average incidence (1/3000). The L-T4 dose required at 90 days (>30 µg/day) has the highest predictive value for PCH. Earlier differentiation of PCH and TCH helps to determine appropriate treatment course.

Plasminogen Activator Inhibitor-1 Polymorphism Confers a Genetic Contribution to the Risk of Recurrent Spontaneous Abortion: An Updated Meta-Analysis.

Various studies have investigated the risk of recurrent spontaneous abortion (RSA) with plasminogen activator inhibitor-1 ( PAI-1) 4G/5G polymorphism. However, the results have been somewhat contradictory. Therefore, an updated meta-analysis based on 31 studies (5617 cases and 3952 controls) was undertaken to clarify this relationship. The degree of RSA risk was estimated using the odds ratio (OR) and the 95% confidence interval (CI). Overall, the random effects OR was 1.464 (95% CI: 1.269-1.690) for 4G versus 5G, 2.075 (95% CI: 1.563-2.754) for 4G/4G versus 5G/5G, 1.457 (95% CI: 1.211-1.753) for 4G/5G versus 5G/5G, 1.743 (95% CI: 1.358-2.236) for 4G/4G versus 4G/5G + 5G/5G, and 1.600 (95% CI: 1.327-1.930) for 4G/4G + 4G/5G versus 5G/5G, indicating that PAI-1 4G/5G polymorphism could confer an increased risk of RSA. Furthermore, a subgroup analysis showed a significantly elevated susceptibility to RSA in Asians, Caucasians, and Africans. Thus, this study demonstrated that PAI-1 4G/5G polymorphism likely confers a genetic contribution to the development of RSA. The results may aid in developing a theoretical basis for effective strategies to prevent and treat RSA.