Exploration of anatomical distribution of brain metastasis from breast cancer at first diagnosis assisted by artificial intelligence.

Objectives: This study aimed to explore the spatial distribution of brain metastases (BMs) from breast cancer (BC) and to identify the high-risk sub-structures in BMs that are involved at first diagnosis. Methods: Magnetic resonance imaging (MRI) scans were retrospectively reviewed at our centre. The brain was divided into eight regions according to its anatomy and function, and the volume of each region was calculated. The identification and volume calculation of metastatic brain lesions were accomplished using an automatically segmented 3D BUC-Net model. The observed and expected rates of BMs were compared using 2-tailed proportional hypothesis testing. Results: A total of 250 patients with BC who presented with 1694 BMs were retrospectively identified. The overall observed incidences of the substructures were as follows: cerebellum, 42.1 %; frontal lobe, 20.1 %; occipital lobe, 9.7 %; temporal lobe, 8.0 %; parietal lobe, 13.1 %; thalamus, 4.7 %; brainstem, 0.9 %; and hippocampus, 1.3 %. Compared with the expected rate based on the volume of different brain regions, the cerebellum, occipital lobe, and thalamus were identified as higher risk regions for BMs (P value ≤ 5.6*10-3). Sub-group analysis according to the type of BC indicated that patients with triple-negative BC had a high risk of involvement of the hippocampus and brainstem. Conclusions: Among patients with BC, the cerebellum, occipital lobe and thalamus were identified as higher-risk regions than expected for BMs. The brainstem and hippocampus were high-risk areas of the BMs in triple negative breast cancer. However, further validation of this conclusion requires a larger sample size.

Effectiveness of Endoscopic Screening on Esophageal Cancer Incidence and Mortality: A 9-Year Report of the Endoscopic Screening for Esophageal Cancer in China (ESECC) Randomized Trial.

PURPOSE: To evaluate the effectiveness of endoscopic screening against incidence of and mortality from esophageal squamous cell carcinoma (ESCC). METHODS: From January 2012 to September 2016, we conducted a community-based cluster randomized controlled trial involving permanent residents age 45-69 years in a high-risk region for ESCC in northern China. A total of 668 targeted villages were randomly assigned in a 1:1 ratio to the screening group (offered Lugol's chromoendoscopy) or control group (no screening). Intention-to-treat and per-protocol analyses were performed to compare esophageal cancer (EC) incidence and mortality between the two groups. The per-protocol analysis adjusted for nonadherence to the screening procedure. RESULTS: A total of 33,847 participants were included in the analysis: 17,104 in the screening group, 15,165 (88.7%) of whom underwent screening, and 16,743 in the control group. During a maximum follow-up of 9 years, EC incidence in the screening and control groups were 60.9 and 72.5 per 100,000 person-years, respectively; mortality in the screening and control groups were 29.7 and 32.4 per 100,000 person-years, respectively. Compared with the control group, the incidence and mortality of the screening group reduced by 19% (adjusted hazard ratio [aHR], 0.81 [95% CI, 0.60 to 1.09]) and 18% (aHR, 0.82 [95% CI, 0.53 to 1.26]), respectively, in the intention-to-treat analysis; and by 22% (aHR, 0.78 [95% CI, 0.56 to 1.10]) and 21% (aHR, 0.79 [95% CI, 0.49 to 1.30]), respectively, in the per-protocol analysis. CONCLUSION: With a 9-year follow-up, our trial suggests that chromoendoscopic screening induces modest reductions in EC incidence and mortality. A more efficient strategy for EC screening and subsequent patient management should be established to guarantee the effectiveness of endoscopic screening.

Fully endoscopic far-lateral supracerebellar infratentorial approach for trigeminal neuralgia: illustrative case reports.

BACKGROUND: Trigeminal neuralgia (TN) is a common cause of craniofacial pain. The retrosigmoid approach is usually used to treat TN, but no cases of endoscopic far-lateral supracerebellar infratentorial approach (EF-SCITA) were used to undergo operation for TN. CASE PRESENTATION: Two patients were presented with severe facial pain and preliminary diagnosis was TN. Preoperative magnetic resonance imaging revealed that a superior cerebellar artery (SCA) compressed the trigeminal nerve in case 1, and a tumor located in the petrous apex extending into the Meckel's cave compressed the trigeminal nerve in case 2. Operations were achieved through the EF-SCITA. The pain was totally relieved with no postsurgical complications in both cases. CONCLUSIONS: We present the first two case reports of EF-SCITA to relieve classical and secondary TN successfully. The EF-SCITA can be a promising approach for treating TN.

Surgical quality determines the long-term survival superiority of right over left thoracic esophagectomy for localized esophageal squamous cell carcinoma patients: a real-world multicenter study.

OBJECTIVE: The objective was to compare the long-term overall survival (OS) of right versus left thoracic esophagectomy, and to evaluate whether surgical quality impacts comparison result. BACKGROUND: Controversy regarding the optimal thoracic esophagectomy approach persists for esophageal squamous cell carcinoma (ESCC). No study has assessed the effect of surgical quality in comparison between right and left approaches. METHODS: The authors consecutively recruited 5556 operable ESCC patients from two high-volume centers in China, of whom 2220 and 3336 received right and left thoracic esophagectomy, respectively. Cumulative sum was used to evaluate the learning curve for operation time of right approach, as the indicator of surgical proficiency. RESULTS: With a median follow-up of 83.1 months, right approach, harvesting more lymph nodes, tended to have a better OS than left approach (Mean: 23.8 vs. 16.7 nodes; adjusted hazard ratio (HR)=0.93, 95% CI: 0.85-1.02). Subset analysis by the extent of lymphadenectomy demonstrated that right approach with adequate lymphadenectomy (≥15 nodes) resulted in statistically significant OS benefit compared with left approach (adjusted HR=0.86, 95% CI: 0.77-0.95), but not with limited lymphadenectomy. Subset analysis by surgical proficiency showed that proficient right approach conferred a better OS than left approach (adjusted HR=0.75, 95% CI: 0.64-0.88), but improficient right approach did not have such survival advantage. CONCLUSIONS: Surgical quality plays a crucial role in survival comparison between surgical procedures. Right thoracic esophagectomy performed with adequate lymphadenectomy and surgical proficiency, conferring more favorable survival than left approach, should be recommended as the preferred surgical procedure for localized ESCC.

Postoperative serum squamous cell carcinoma antigen and carcinoembryonic antigen predict overall survival in surgical patients with esophageal squamous cell carcinoma.

Background: Tumor markers are routinely used in clinical practice. However, for resectable patients with esophageal squamous cell carcinoma (ESCC), they are applied infrequently as their prognostic significance is incompletely understood. Methods: This historical cohort study included 2769 patients with resected ESCC from 2011 to 2018 in a high-risk area in northern China. Their clinical data were extracted from the Electronic Medical Record. Survival analysis of eight common tumor markers was performed with multivariable Cox proportional hazards regressions. Results: With a median follow-up of 39.5 months, 901 deaths occurred. Among the eight target markers, elevated postoperative serum SCC (Squamous cell carcinoma antigen) and CEA (Carcinoembryonic antigen) predicted poor overall survival (SCC HRadjusted: 2.67, 95% CI: 1.70-4.17; CEA HRadjusted: 2.36, 95% CI: 1.14-4.86). In contrast, preoperative levels were not significantly associated with survival. Stratified analysis also demonstrated poorer survival in seropositive groups of postoperative SCC and CEA within each TNM stage. The above associations were generally robust using different quantiles of concentrations above the upper limit of the clinical normal range as alternative cutoffs. Regarding temporal trends of serum levels, SCC and CEA were similar. Their concentrations fell rapidly after surgery and thereafter remained relatively stable. Conclusion: Postoperative serum SCC and CEA levels predict the overall survival of ESCC surgical patients. More importance should be attached to the use of these markers in clinical applications.

PD-1/PD-L1 Inhibitor Plus Chemotherapy Versus PD-1/PD-L1 Inhibitor in Microsatellite Instability Gastrointestinal Cancers: A Multicenter Retrospective Study.

PURPOSE: To investigate the efficacy of PD-1/PD-L1 inhibitors plus chemotherapy versus anti-PD-1/PD-L1 monotherapy in advanced microsatellite instability (MSI)/mismatch repair-deficient (dMMR) gastrointestinal cancers. METHODS: We retrospectively recruited patients with MSI/dMMR gastrointestinal cancer who received anti-PD-1/PD-L1 with or without chemotherapy and compared objective response rate (ORR), disease control rate (DCR), progression-free survival (PFS), and overall survival (OS) of PD-1/PD-L1 inhibitor plus chemotherapy (chemo-anti-PD-1/PD-L1 group) and PD-1/PD-L1 inhibitor alone (anti-PD-1/PD-L1 group). Propensity score-based overlap weighting analysis was conducted to adjust the baseline covariable imbalance. Sensitivity analysis was performed to confirm the stability of the results by propensity score matching and multivariable Cox and logistic regression models. RESULTS: A total of 256 patients were eligible, with 68 and 188 receiving chemo-anti-PD-1/PD-L1 and anti-PD-1/PD-L1, respectively. The chemo-anti-PD-1/PD-L1 group showed significant improvements versus the anti-PD-1/PD-L1 group in ORR (61.8% v 38.8%; P = .001), DCR (92.6% v 74.5%; P = .002), PFS (median PFS [mPFS], not reached [NR] v 27.9 months; P = .004), and OS (median OS [mOS], NR v NR; P = .014). After overlap weighting, the improvements tended to be more significant with chemo-anti-PD-1/PD-L1 versus anti-PD-1/PD-L1 in ORR (62.5% v. 38.3%; P < .001), DCR (93.8% v 74.2%; P < .001), PFS (mPFS, NR v 26.0 months; P = .004), and OS (mOS, NR v NR; P = .010). These results were solidified through sensitivity analysis. CONCLUSION: Chemo-anti-PD-1/PD-L1 is superior to anti-PD-1/PD-L1 in MSI/dMMR gastrointestinal cancers with improved efficacy.

Minimally Invasive or Open Esophagectomy for Treatment of Resectable Esophageal Squamous Cell Carcinoma? Answer From a Real-world Multicenter Study.

OBJECTIVE: To evaluate the long-term and short-term outcomes of MIE compared with OE in localized ESCC patients in real-world settings. BACKGROUND: MIE is an alternative to OE, despite the limited evidence regarding its effect on long-term survival. METHODS: We recruited 5822 consecutive patients with resectable ESCC in 2 typical high-volume centers in southern and northern China, 1453 of whom underwent MIE. Propensity score-based overlap weighted regression adjusted for multifaceted confounding factors was used to compare outcomes in the MIE and OE groups. RESULTS: Five-year OS was 62.7% in the MIE group and 57.7% in the OE group. The overlap weighted Cox regression showed slightly better OS in the MIE group (hazard ratio 0.93, 95% confidence interval: 0.82-1.06). Although duration of surgery was longer and treatment cost higher in the MIE group than in the OE group, the number of lymph nodes harvested was larger, the proportion of intraoperative blood transfusions lower, and postoperative complications less in the MIE group. 30-day (risk ratio [RR] 0.77, 0.381.55) and 90-day (RR 0.79, 0.46-1.35) mortality were lower in the MIE group versus the OE group, although not statistically significant. These findings were consistent across different analytic approaches and subgroups, notably in the subset of ESCC patients with large tumors. CONCLUSIONS: MIE can be performed safely with OS comparable to OE for patients with localized ESCC, indicating MIE may be recommended as the primary surgical approach for resectable ESCC in health facilities with requisite technical capacity.

Is Adjuvant Therapy a Better Option for Esophageal Squamous Cell Carcinoma Patients Treated With Esophagectomy? A Prognosis Prediction Model Based on Multicenter Real-World Data.

OBJECTIVE: To construct a prediction model for more precise evaluation of prognosis which will allow personalized treatment recommendations for adjuvant therapy in patients following resection of ESCC. BACKGROUND: Marked heterogeneity of patient prognosis and limited evidence regarding survival benefit of various adjuvant therapy regimens pose challenges in the clinical treatment of ESCC. METHODS: Based on comprehensive clinical data obtained from 4129 consecutive patients with resected ESCC in a high-risk region in China, we identified predictors for overall survival through a 2-phase selection based on Cox proportional hazard regression and minimization of Akaike information criterion. The model was internally validated using bootstrapping and externally validated in 1815 patients from a non-high-risk region in China. RESULTS: The final model incorporates 9 variables: age, sex, primary site, T stage, N stage, number of lymph nodes harvested, tumor size, adjuvant treatment, and hemoglobin level. A significant interaction was also observed between N stage and adjuvant treatment. N1+ stage patients were likely to benefit from addition of adjuvant therapy as opposed to surgery alone, but adjuvant therapy did not improve overall survival for N0 stage patients. The C -index of the model was 0.729 in the training cohort, 0.723 after bootstrapping, and 0.695 in the external validation cohort. This model outperformed the seventh edition American Joint Committee on Cancer staging system in prognostic prediction and risk stratification. CONCLUSIONS: The prediction model constructed in this study may facilitate precise prediction of survival and inform decision-making about adjuvant therapy according to N stage.

Combined Mean Corpuscular Hemoglobin, Fibrinogen, and Albumin (MF-A) Is a Novel Prognostic Marker in Patients with Resectable Esophageal Squamous Cell Carcinoma.

BACKGROUND: The aim was to systematically select blood markers routinely tested in clinical settings, which are independently associated with overall survival (OS) and are able to stratify prognosis of esophageal squamous cell carcinoma (ESCC) patients undergoing esophagectomy. METHODS: We selected optimal blood markers for prognostic stratification from 60 candidates in a clinical cohort of 1819 consecutive patients with resectable ESCC in China. Selection was carried out using two-step multivariable Cox proportional hazards regression adjusted for multifaceted confounders. A composite index was developed by multiplying risk factors and dividing them by protective factors. RESULTS: With a median follow-up of 48.07 months, 641 deaths occurred in the 1819 patients and the 5-year OS was 56.30%. Two risk factors (mean corpuscular hemoglobin, fibrinogen) and a protective factor (albumin), all dichotomized and assigned values 1 and 2, were used to construct the composite index marker "MF-A". Three risk groups were created based on the MF-A score including low- (0.5), moderate- (1), and high-risk groups (2 and 4). Compared with patients in the low-risk group (1184/1778, 66.59%), those in the moderate- (488, 27.45%), and high-risk (106, 5.96%) groups were at elevated risk of death (adjusted HR: 1.32, 95% CI: 1.11-1.57; adjusted HR: 2.08, 95% CI: 1.56-2.75; Ptrend < 10-7). Within each TNM stage grouping, OS also trended to be significantly worse as the MF-A score increased. CONCLUSIONS: "MF-A" is a novel independent predictor which may be used to estimate and stratify prognosis for ESCC patients undergoing esophagectomy.

Effect of combined arsenic and lead exposure on their uptake and translocation in Indian mustard.

Phytoremediation makes use of hyperaccumulating plants to remove potentially toxic elements (PTEs) from soil selectively. Most researches examining hyperaccumulators focused on how they act on a single PTE contaminant. However, there is more than one kind of PTEs in most contaminated soils. Phytoremediation approaches could be less effective in environments containing multiple PTEs contaminants. Here we examine arsenic (As) and lead (Pb) accumulation in Indian Mustard (Brassica juncea) from solutions with one or both pollutants. Indian mustard accumulates As or Pb when exposed in the single liquid exposure of As or Pb, and the highest concentrations of As and Pb in Indian Mustard reach 1,786 mg/kg and 47,200 mg/kg, respectively. But the absorption efficiencies of As and Pb decrease (by >90% for As, and ∼10-30% for Pb) when both As and Pb are present. The translocation of As and Pb from the root to leaf is also impeded by 36%-88% for As and 55-85% for Pb when treated with both PTEs. In As and Pb co-treatment, significant negative correlations between As (V) and P and between Pb and other elements (including K, Mg and Ca) were found in Indian mustard. X-ray absorption near edge (XANES) spectroscopy and subcellular extraction experiments indicate that much of the accumulated Pb bound within lead phosphate particles, and often located within the cell wall. Pb could decrease the percentage of water-soluble As and increase protein combined As in subcellular levels within Indian mustard. Based on these data, we suggest that the competition between Pb and monovalent and divalent nutrients (e.g., Ca(II), Mg(II) and K(I)), and the formation of lead phosphates within cell walls play critical roles in decreasing As and Pb co-uptake efficiencies for Indian mustard.

Maternal hypertensive disorders in pregnancy and risk of hypoxic-ischemia encephalopathy.

BACKGROUND: Hypoxic-ischemic encephalopathy (HIE) is one of the most serious birth complications for neonates. Few studies reported the relationship between maternal blood pressure disorders and risk of neonatal HIE. OBJECTIVE: This study was conducted to examine whether maternal hypertensive disorders in pregnancy increase the risk of HIE. METHODS: The analyses were performed using data from a large population-based cohort study aiming to prevent neural tube defects by supplementation with folic acid. The subjects comprised 183,981 women with singleton live births delivered at gestational ages of 32-42 weeks, who registered in two southern provinces in China. Blood pressure was measured by trained health care workers at each prenatal visit. Diagnosis information on HIE was recorded at the time of delivery. RESULTS: Totally 19,298 women (10.49%) were diagnosed with maternal hypertensive disorders in pregnancy and 255 infants (1.4 per 1000) with HIE, respectively. Compared with the normotensive group, a great increment in the risk of HIE was observed in women with hypertensive disorders (adjusted RR = 2.40, 95% confidence interval [CI]: 1.79-3.22) after adjusting for maternal confounding factors. A greater association was presented among preterm (32-36 weeks) infants with an adjusted RR of 5.45 (95% CI: 2.79, 10.65) compared to a RR of 2.09 (95% CI: 1.49, 2.92) among full-term (37-42 weeks) infants (p for heterogeneity < .05). Further stratification analyses showed that no matter with or without small for gestational age (SGA), maternal hypertensive disorders were associated with the increased risk for HIE. Sensitivity analyses excluding infants with low or high birth weight did not appreciably change the findings. CONCLUSIONS: Our present study demonstrated a positive association of maternal hypertensive disorders in pregnancy with the risk of neonatal HIE.

Hypermethylation of WNT3A gene and non-syndromic cleft lip and/or palate in association with in utero exposure to lead: A mediation analysis.

OBJECTIVES: We aim to investigate association between WNT3A methylation and risk of non-syndromic cleft lip and/or palate (NSCL/P), and examine mediating effect of WNT3A methylation on the association of NSCL/P and lead (Pb) exposure in fetuses. METHODS: DNA methylation of WNT3A in umbilical cord blood was determined among 59 NSCL/P cases and 118 non-malformed controls. Mediation analysis was performed to evaluate the potential mediating effect of WNT3A methylation on association between concentrations of Pb in umbilical cord and risk for NSCL/P. Additionally, an animal experiment in which cleft palates were induced by lead acetate was conducted. RESULTS: The overall average methylation level of WNT3A was significant higher in NSCL/P cases as compared to controls. The risk for NSCL/P was increased by 1.90-fold with hypermethylation of WNT3A. Significant correlation was observed between concentrations of Pb in umbilical cord and methylation level of WNT3A. The hypermethylation of WNT3A had a mediating effect by 9.32% of total effect of Pb on NSCL/P risk. Gender-specific association between WNT3A methylation and NSCL/P was observed in male fetuses, and the percentage of the mediating effect increased to 14.28%. Animal experiment of mice showed that maternal oral exposure to lead acetate may result in cleft palate in offspring. CONCLUSION: Hypermethylation of WNT3A was associated with the risk for NSCL/P and may be partly explain the association between exposure to Pb and risk for NSCL/P. The teratogenic and fetotoxic effects of Pb were found in mice.

Determination of organochlorine pesticides in human umbilical cord and association with orofacial clefts in offspring.

Studies based on questionnaires suggested that maternal exposure to pesticides increases the risk for orofacial clefts (OFCs). However, whether organochlorine pesticides (OCPs) exposure in vivo affects the occurrence of OFCs remains unclear. The aims of this study are to investigate the association of OCP exposure with the risk of OFCs by examining the concentrations of OCPs in human umbilical cords, and investigate the potential dietary sources of OCPs in umbilical cord tissues. A case-control study consisting of 89 OFC cases and 129 nonmalformed controls with available tissues of umbilical cord was conducted. Concentrations of twenty specific OCPs were determined in the umbilical cord by gas chromatograph-mass spectrometry, and seven OCPs with detection rate larger than 50% were included in analyses. The individual effect and joint effect of multiple OCPs in umbilical cords on the risk for OFCs were investigated using multivariate logistic models and Bayesian Kernel Machine Regression (BKMR). No difference was found in the median levels of ΣOCPs between cases (1.04 ng/g) and controls (1.03 ng/g). No significant associations were observed between levels of OCPs in umbilical cords and risk for OFCs in either multivariate logistic models or BKMR models. Maternal consumptions of beans or bean products were positively correlated with levels of ß-hexachlorocyclohexane, heptachlor epoxide, p,p'-DDE, and ∑OCPs in umbilical cord, respectively. In conclusion, we didn't find the association between in utero exposure to OCPs and the risk for OFCs. Maternal consumptions of beans or bean products may be a source of OCPs exposure.

Few-mode fiber-embedded long-period fiber grating for simultaneous measurement of refractive index and temperature.

A few-mode fiber (FMF)-embedded long-period fiber grating is proposed as a sensor for simultaneous measurement of refractive index and temperature. Periodically embedding the FMFs induces the local refractive index modulation to achieve a compact sensor size and obtains a low insertion loss. The simulated results show that the two resonance dips have opposite waveguide dispersion coefficients. Therefore, they show different refractive indices and temperature sensitivities in the experiment. At the same time, the spectral characteristics of double-resonance dips provides a condition for simultaneous measurement of two parameters. By monitoring wavelength shift of the two dips, the simultaneous measurement of refractive index and temperature is easily realized.

All fiber compact bending sensor with high sensitivity based on a multimode fiber embedded chirped long-period grating.

We investigated and prepared a chirped long-period grating for high sensitivity bending measurement. The novel fiber structure is composed of the multimode fiber (MMF) with fixed length and gradually longer single-mode fiber using the continuous splicing method. The powerful ability of refractive index modulation in the MMF renders the miniaturization of the sensor. The total length of the sensor is 3.45 mm. Chirped period arrangement is adopted to improve the bending sensitivity. Through numerical calculation, the chirp coefficient is determined, and the clear resonance peaks are obtained using the wavelength scanning. The experimental results of several samples show that the maximum bending sensitivity is 53.68nm/m-1 at 0-1.803m-1. With the advantages of small size and high sensitivity, the sensor is especially suitable for bending sensing with a micro-structure.

Gestational hypertension and pre-eclampsia and risk of spontaneous premature rupture of membranes: A population-based cohort study.

OBJECTIVE: To examine whether gestational hypertension and pre-eclampsia are associated with spontaneous premature rupture of membranes (PROM). METHODS: A retrospective, population-based cohort study was conducted in Hebei, Zhejiang, and Jiangsu provinces in China from 1993 to 1995. After excluding women with missing data of exposure and outcome, history of chronic hypertension, multiple births, and babies with major birth defects and ambiguous sex, this study comprised 199 231 singleton live births. Logistic regression was used to evaluate the association, adjusting for potential confounders. RESULTS: The incidence of PROM was 17.7% and 8.9% in women with gestational hypertension and pre-eclampsia, respectively, and 5.9% for the normotensive group. Compared with normotension, gestational hypertension was associated with an increase in the odds of PROM of 4.21 times (95% confidence interval [CI] 3.77-4.70), while pre-eclampsia had an increase of 2.27 times (95% CI 1.78-2.88). Additionally, women with hypertensive disorders of pregnancy had higher risks for term PROM (adjusted risk ratio [RR] 3.83, 95% CI 3.43-4.27) than preterm PROM (adjusted RR 3.10, 95% CI 2.18-4.41). Consistent results of the association were also observed in the sensitivity analyses. CONCLUSION: Gestational hypertension and pre-eclampsia were associated with an increased risk for PROM. Increased odds were observed for term PROM compared with preterm PROM.

Genetic variants in GRHL3 and risk for neural tube defects: A case-control and case-parent triad/control study.

BACKGROUND: Neural tube defects (NTDs) are the most common severe birth defects with complex etiologies. Previous studies conducted on animals have suggested that the Grhl3 gene is essential for closure of the spinal neural tube, but little evidence from human studies on the variants of GRHL3 gene has been provided, especially the common genetic variants. METHODS: To investigate the relationship between common genetic variants of GRHL3 and the risk for NTDs, we performed a case-control study and a case-parent triad/control study. Fast-target enrichment sequencing was performed to screen exon regions from 503 NTD cases, and three tag SNPs (single nucleotide polymorphisms, including rs12030057, rs2486668, and rs545809) were selected according to the sequencing results. Then, Sequenom MassARRAY genotyping was performed in 757 case parents and 519 controls to obtain genotype information of the target variant sites among all NTD triads and controls. RESULTS: The genotype distributions of all SNPs were in accordance with Hardy-Weinberg Equilibrium (HWE) in the control population. In the case-control study, significant associations were found between C27G genetic variants on rs2486668 and risk for spina bifida and encephalocele, respectively, under different genetic models. Consistently, in the case-parent triad/control study, GG genotype on rs2486668 was associated with increased risk for spina bifida, with a RR of 2.15 (95% CI: 1.20-3.83). However, no parent-of-origin effect was found for any tag SNPs. CONCLUSION: The GRHL3 C67G missense variant may increase the risk for spina bifida and encephalocele phenotypes.

Hemifacial Spasm Caused by Veins Confirmed by Intraoperative Monitoring of Abnormal Muscle Response.

BACKGROUND: Hemifacial spasm (HFS) is a benign disease caused by the hyper excitement of facial nerves owing to vessel compression. The offending vessels are usually arteries, such as anterior and posterior inferior cerebellar or vertebral arteries, but there are few reports of vein involvement cases. OBJECTIVE: The aim of this study was to investigate veins as offending vessels in patients with HFS confirmed by abnormal muscle response (AMR). METHODS: We analyzed 5 patients with HFS caused by veins among 78 patients with HFS over the past 10 years. All patients underwent microvascular decompression (MVD) with AMR monitoring, whereas 3 of them underwent a second MVD. The mean follow-up time was 97 months. RESULTS: Arteries were thoroughly decompressed in 3 patients with a failed first MVD surgery who received a second surgery, during which veins at the root exit point (RExP) were decompressed with the disappearance or a significant decrease in the amplitude of AMR. Two patients showed spasm resolution after the first surgery when veins were decompressed together with the disappearance of AMR. The location of veins was RExP and the cisternal portion. All patients had excellent outcomes within 3 months, and no complications were observed. CONCLUSIONS: Veins can be offending vessels in HFS patients. AMR is useful to determine the endpoint in these cases. Once arteries are decompressed thoroughly with residual AMR, surrounding veins at unusual sites, such as the RExP or the cisternal portion, must be checked to prevent persistent HFS. Complete decompression of veins leads to a good clinical outcome.

Multimode-interference-effect-based all-fiber displacement sensing system for an orthopedic Ilizarov apparatus device.

The paper describes a multimode-interference-effect-based single-mode-multimode-single-mode (SMS) fiber optic sensing system for wide-range displacement monitoring on an Ilizarov orthopedic external fixation device. Displacement measurement is implemented as the uniform extension of a spring, which is connected to an SMS optical fiber displacement sensor, allowing full displacement characterization. SMS fiber structures are used together with a macrobending-fiber-based interrogation system to measure temperature perturbation and hence eliminate its effect on the displacement measurement. Transmission spectra are measured, achieving a displacement measurement range of 110 mm with maximum sensitivity of -53 pm/mm and a resolution of 500 µm. The all-fiber sensing system has facilitated a clinical device with a wide displacement range operating in real-time when attached to the Ilizarov apparatus.