[Pathogenic characterization of Klebsiella pneumoniae resistant to carbapenems and polymyxin].

Objective: Analysis and investigation of pathogenic characteristics of polymyxin-and carbapenem-resistant Klebsiella pneumoniae (PR-CRKP). Methods: A total of 23 PR-CRKP strains isolated from clinical specimens from the General Hospital of Southern Theater Command from March 2019 to July 2021 were retrospectively collected, Whole-genome sequencing was performed on 23 PR-CRKP strains, resistance genes were identified by comparison of the CARD and the ResFinder database, high-resolution typing of PR-CRKP strains was analyzed by core genomic multilocus sequencing (cgMLST) and single nucleotide polymorphism (SNP); polymyxin resistance genes were determined by PCR and sequencing. Results: All PR-CRKP strains were KPC-2 producing ST11 types. cgMLST results showed that the evolutionary distance between the PR-CRKP strains and Klebsiella pneumoniae in mainland China was 66.44 on average, which is more closely related than foreign strains; the 23 PR-CRKP strains were divided into 3 main subclusters based on SNP phylogenetic trees, with some aggregation among Clade 2-1 in the isolation department and date. The two-component negative regulatory gene mgrB has seven mutation types including point mutations, different insertion fragments and different insertion positions. Conclusion: The close affinity of PR-CRKP strains indicate the possibility of nosocomial clonal transmission and the need to strengthen surveillance of PR-CRKP strains to prevent epidemic transmission of PR-CRKP.

[Progress in basic research and clinical application of hepatocyte transplantation].

Hepatocyte transplantation is considered a promising alternative treatment to liver transplantation. Although the safety and efficacy of hepatocyte transplantation in the treatment of acute liver failure and certain inherited metabolic diseases of the liver have been validated in many clinical trials, clinical hepatocyte transplantation still faces many problems and limitations, such as a shortage of high-quality donor organs, reduced cell viability after cryopreservation, low cell implantation and proliferation rates, and allogeneic hepatocyte rejection. This article reviews the latest basic research and clinical application progress in hepatocyte transplantation.

[Utilizing ultra-small volume graft in auxiliary liver transplantation for portal hypertension].

Objective: To examine the clinical effect of auxiliary liver transplantation with ultra-small volume graft in the treatment of portal hypertension. Methods: Twelve cases of portal hypertension treated by auxiliary liver transplantation with small volume graft at Liver Transplantation Center,Beijing Friendship Hospital, Capital Medical University between December 2014 and March 2022 were studied retrospectively. There were 8 males and 4 females,aged 14 to 66 years. Model for end-stage liver disease scores were 1 to 15 points and Child scores were 6 to 11 points. The grafts was derived from living donors in 9 cases,from split cadaveric donors in 2 cases,from whole cadaveric liver of child in 1 case. The graft recipient body weight ratios of 3 cadaveric donor livers were 0.79% to 0.90%, and of 9 living donor livers were 0.31% to 0.55%.In these cases, ultra-small volume grafts were implanted. The survivals of patient and graft, complications, portal vein blood flow of residual liver and graft, abdominal drainage and biochemical indexes of liver function were observed. Results: All the grafts and patients survived. Complications included outflow tract torsion in 2 cases, acute rejection in 1 case, bile leakage in 1 case, and thyroid cancer at the later stage of follow-up in 1 case, all of which were cured. The torsion of outflow tract was attributed to the change of anastomotic angle after the growth of donor liver. After the improvement of anastomotic method, the complication did not recur in the later stage. There was no complication of portal hypertension. The measurement of ultrasonic portal vein blood flow velocity showed that the blood flow of residual liver decreased significantly in the early stage after operation, and maintained a very low blood flow velocity or occlusion in the long term after operation, and the blood flow of transplanted liver was stable. Conclusions: Auxiliary liver transplantation can implant ultra-small donor liver through compensation of residual liver. This method may promote the development of living donor left lobe donation and split liver transplantation. However, the auxiliary liver transplantation is complex, and it is difficult to control the complications. Therefore, this method is currently limited to centers that are skilled in living related liver transplantation and that have complete ability to monitor and deal with complications.

[Phenotypes and genotypes of 78 patients with propionic acidemia].

Objective: Propionic acidemia is a rare inherited metabolic disorder caused by propionyl CoA carboxylase (PCC) deficiency. This study aims to analyze the clinical characteristics and gene variations of Chinese patients with propionic acidemia, and to explore the correlation between clinical phenotypes and genotypes. Methods: Single-center, retrospective and observational study. Seventy-eight patients of propionic acidemia (46 males and 32 females) from 20 provinces and autonomous regions were admitted from January 2007 to April 2022. Their age of initial diagnosis ranged from 7 days to 15 years. The clinical manifestations, biochemical and metabolic abnormalities, genetic variations, diagnosis, treatment and outcome were studied. Chi-Square test or Mann-Whitney U test were used for statistical analysis. Results: Among 78 cases, 6 (7.7%) were identified by newborn screening; 72 (92.3%) were clinically diagnosed after onset, and the age of onset was 2 hours after birth to 15 years old; 32 cases had early-onset disease and 40 cases had late-onset disease. The initial manifestations included lethargy, hypotonia, vomiting, feeding difficulties, developmental delay, epilepsy, and coma. Among the 74 cases who accepted gene analysis, 35 (47.3%) had PCCA variants and 39 (52.7%) had PCCB variants. A total of 39 PCCA variants and 32 PCCB variants were detected, among which c.2002G>A and c.229C>T in PCCA and c.838dupC and c.1087T>C in PCCB were the most common variants in this cohort. The variants c.1228C>T and c.1283C>T in PCCB may be related to early-onset type. The variants c.838dupC, c.1127G>T and c.1316A>G in PCCB, and c.2002G>A in PCCA may be related to late-onset disease. Six patients detected by newborn screening and treated at asymptomatic stage developed normal. The clinically diagnosed 72 cases had varied complications. 10 (12.8%) cases of them died. 62 patients improved after metabolic therapy by L-carnitine and diet. Six patients received liver transplantation because of recurrent metabolic crisis. Their clinical symptoms were markedly improved. Conclusion: The clinical manifestations of propionic acidemia are complex and lack of specificity. Newborn screening and high-risk screening are keys for early treatment and better outcome. The correlation between the genotype and phenotype of propionic acidemia is unclear, but certain variants may be associated with early-onset or late-onset propionic acidemia.

[Dysregulated proportion of intrahepatic Treg cells and Th17 along with CD8+ T lymphocytes drives disease progression after kasai biliary atresia surgery].

Objective: To analyze the clinicopathological characteristics and intrahepatic immune cells infiltration condition after Kasai biliary atresia surgery. Methods: Data of 28 cases who underwent liver transplantation in the liver transplantation center of our hospital from June 2017 to March 2019 were enrolled. Of which, 20 cases were in the biliary atresia group (divided into two subgroups: 10 cases without Kasai surgery and 10 cases after Kasai surgery, and latter subsided cholestasis) and 8 cases in the control group. Clinical and pathological morphological characteristics of the groups were compared. Liver tissue sections were stained with immunohistochemistry and CD3, CD4, CD8, CD20, Foxp3, and interleukin-17A were quantitatively analyzed. Kruskal-Wallis test was used to measure the above indicators, and rank-sum test or Fisher's exact test was used to compare the count data. Results: The degree of clinical and pathological cholestasis in the biliary atresia group after Kasai surgery was significantly lower than that of the group without Kasai surgery, and the degree of liver fibrosis was also significantly reduced (P < 0.05), but there was no statistically significant difference in the degree of inflammation in the portal vein area between the two groups (P > 0.05). There was statistically significant difference in the types of immune cells infiltrated in the liver (P < 0.05). Compared with the group without Kasai surgery, the infiltration of CD3, CD8, IL-17A and Foxp3 positive cells in the portal vein area after Kasai surgery group (P < 0.05) was significantly reduced, but there was no statistically significant difference in the proportion of Foxp3/CD4 positive cells between the two groups (P > 0.05), which continued to be lower than that of the control group (P < 0.05). Compared with the non-Kasai surgery group, the proportion of Foxp3/IL-17A and Foxp3/CD8 positive cells in the portal vein area did not increase significantly after Kasai surgery group (P > 0.05), and remained lower than the control group. However, the proportion of Foxp3/IL-17A and Foxp3/CD8 positive cells was significantly reduced (P ​​< 0.05). Conclusion: Intrahepatic inflammatory cell infiltration and regulatory/effector T lymphocyte proportion dysregulation exist in patients with subsided cholestasis after Kasai biliary atresia surgery, which may be an important factor to promote the disease progression.

[Clinicopathological features of Caroli disease/Caroli syndrome: an analysis of 21 cases].

Objective: To summarize and compare clinicopathological features of Caroli disease and Caroli syndrome. Methods: A total of 21 patients diagnosed with Caroli disease or Caroli syndrome in Beijing Friendship Hospital, Capital Medical University, from January 2015 to December 2018 were included. Through the clinical manifestations and comparative analysis of the differences between different clinical types, the liver pathological features of these patients were described. Results: Of all patients included, 8 were male and 13 were female, and the medium age was 13.5 year old. The initial symptom was fever in 6 cases (28.6%), gastrointestinal bleeding in 6 cases (28.6%) and hepatosplenomegaly in 9 cases (42.8%). Caroli disease accounted for 6 cases (28.6%) and Caroli syndrome 15 cases (71.4%). The total bilirubin [6.7 (4.7, 15.0) vs 16.0(10.9, 33.0)µmol/L] and direct bilirubin [1.3(0.9,6.4)vs 3.5(2.7, 16.2)µmol/L] were significantly lower in Caroli disease group in comparison to those in Caroli syndrome group(both P<0.05). The hemoglobin [117.0 (106.0, 126.2) vs 85.0 (74.0, 103.0) g/L] and platelet count [286.0 (149.8, 467.5)×10(9)/L vs 76.1(55.0,123.0)×10(9)/L] in Caroli disease group were significantly higher than those in Caroli syndrome group (both P<0.05). There were 10 patients (47.6%) who underwent liver transplantation. Child-Pugh-Turcotte Score (liver function reserve) were significantly higher than that in the non-liver transplantation group[8.0(8.0, 10.2)vs 5.0 (5.0, 6.0), P<0.05]. Conclusions: Early symptoms of Caroli disease/Caroli syndrome are atypical and prone to misdiagnosis and misdiagnosis. The diagnosis is usually based on pathology and may be supplemented by laboratory examination and imaging analysis.

Quadrichromatic LED based mobile phone camera visible light communication.

A quadrichromatic light-emitting diode (QLED) based visible light communication for mobile phone camera is proposed to improve data rate and enhance illumination effect at the same time. Different from color intensity modulation (CIM), we propose and use color ratio modulation (CRM) in CMOS image sensor based visible light communication to improve data rate. According to the spectral power distribution (SPD) of the QLED and the spectral response of the complementary-metal-oxide-semiconductor (CMOS) image sensor, color multiple-input multiple-output (CMIMO) channel model is set up first to obtain optimal 16-CRM constellation design. Taking full consideration of the high quality of color rendering index (CRI), tunable color temperature (CT), we design a specific data packet structure to realize illumination requirements. A decoding strategy is also addressed for demapping at the receiver. The experimental results demonstrate that the proposed scheme can realize a downlink data rate of 13.2kbit/s, meanwhile, the optical signal source is illumination compatible.

Identification of genes related to floral organ development in pak choi by expression profiling.

Pak choi is a highly nutritious vegetable that is widely grown in China, Southeast Asia, and other parts of the world. Because it reproduces by seed, it is very important to understand the mechanism of floral organ development. Therefore, using the Chinese cabbage genome as a reference, this study analyzed the expression profiles of shoot apex genes at flower bud differentiation stages 1 and 5, in order to identify genes related to floral organ development. The results showed that the proportion of mapped genes was high, with 84.25 and 83.80% of clean reads from the two sample saligned to the reference genome, respectively. A total of 525 differentially expressed genes (DEGs) were identified, 224 of which were upregulated and 301 were downregulated. The expression levels of genes homologous to Chinese cabbage flowering genes were also analyzed at stages 1 and 5; the expression levels of Bra012997 (ap1), Bra000393 (SOC1), and Bra004928 (SOC1) were significantly upregulated at stage 5, suggesting that these three genes positively regulate floral development in pak choi. DEGs involved in floral organ development were analyzed with homologous genes from Arabidopsis thaliana; the homologous genes Bra029281 (AGL42), Bra026577 (ARPN), Bra022954 (SPL3), Bra029293 (ARF2), Bra007978 (AtRLP12), Bra033221 (SPL8), Bra008037 (LOX4), Bra001598 (IAA19), Bra003892 (PATL1), Bra038778 (AT4G21323), Bra025315 (KLCR2), and Bra013906 (DTX35) are directly related to floral organ development in Arabidopsis, suggesting that these genes have corresponding functions during flower organ development in pak choi, and could be candidates for further genetic research. These results provide a foundation for research on the molecular mechanism of flower organ development in pak choi and other Brassica rapa vegetables.

[Effects of percutaneous nephrolithotomy in the treatment of medullary sponge kidney with calculi].

Objective: To evaluate the effects of percutaneous nephrolithotomy (PNL) in the treatment of medullary sponge kidney with calculi. Methods: A total of 77 patients (91 renal units) of medullary sponge kidney with calculi (MSK group) and 77 patients (77 renal units) with common kidney stone (control group) received PNL at Department of Urology in Peking University People's Hospital from September 2006 to February 2016 were analyzed retrospectively. The MSK group included 33 males and 44 females with a mean age of (42.1±13.2) years, the mean stone burden was (3.9±1.8) cm. The control group included 36 males and 41 females with a mean age of (45.3±13.0) years, the mean stone burden was (3.6±1.5) cm. The numbers of tracts, the time of operation, the drop of hemoglobin, the change of creatine, the time of hospitalization, the stone free rate and major complications were compared between the two groups. The measurement data and numeration data were compared with t test and χ(2) test. Results: There were no significant differences in sex, age, preoperative urinary tract infection, stone type, and stone burden between the two groups (all P>0.05). The proportion of bilateral renal calculus in MSK group was higher (18.2% vs. 0, χ(2)=15.400, P=0.000). There were 159 percutaneous channels were established in MSK group while 90 percutaneous channels were established in control group. Compared with the control group, the operation time ((88.1±37.5) minutes vs. (68.5±30.1) minutes, t=3.543, P=0.000) and hospitalization time ((15.1±8.3) days vs. (10.1±3.6) days, t=4.816, P=0.000) were longer, the creatinine level increased ((101.2±62.6) µmol/L vs. (71.3±23.6) µmol/L, t=3.777, P=0.000), the rate of stone free decreased (27.5% vs. 83.1%, χ(2)=51.840, P=0.000) and the rate of complications increased (29.9% vs. 11.7%, χ(2)=8.114, P=0.004) in MSK group. There was no statistically difference in hemoglobin drop ((12.5±13.2) g/L vs. (13.0±10.9) g/L, t=-0.260, P=0.795). Conclusions: Using PNL for patients of MSK with calculi has a lower stone free rate and a higher complications. It is an effective method for patients of MSK with large and complex calculi.

[Risk factor analysis of systemic inflammatory response syndrome in type 2 diabetics after percutaneous nephrolithotomy].

OBJECTIVE: To evaluate the risk factors of systemic inflammatory response syndrome (SIRS) in the patients with type 2 diabetes diagnosed with kidney stone after percutaneous nephrolithotomy (PCNL). METHODS: In this study, 461 patients with type 2 diabetes who received PCNL in Peking University People's Hospital from June 2006 to December 2015 were reviewed. There were 281 males and 180 females with an average age of 57 years were included, of whom, 137 were diagnosed with SIRS after PCNL. The demographic data, clinical features, and test results were compared between the patients with SIRS and without SIRS, trying to identify the correlation between their clinical characters and the occurrence of SIRS. RESULTS: The SIRS was significantly correlated with the patients' preoperative white blood cell counting (×10(9)/L) [7.76 (4.00-17.96) vs. 6.31 (2.00-17.40), P<0.001], preoperational blood glucose level (mmol/L) [7.30 (3.08-19.90) vs. 6.40 (3.42-16.78), P<0.001], operative time (min) [75 (20-270) vs. 60 (20-200), P<0.001], length of stay (d) [12 (2-46) vs. 11 (3-29), P=0.019], staghorn stones [38.8% (33/85) vs. 27.7% (104/376), P=0.042], and preoperational urinary tract infection [36.8% (50/136) vs. 26.6% (81/304), P=0.032]. There was no significant correlation between the SIRS and the patients' age, body mass index, preoperative hemoglobin level, preoperative serum creatinine, and transfusion. In multivariate analysis, abnormal preoperative white blood cell counting (OR=3.194, 95% CI: 1.531-6.666, P=0.002), operative time longer than 60 min (OR=1.635, 95% CI: 1.088-2.456, P=0.018), and preoperational blood glucose level higher than normal 7.1 mmol/L were significantly correlated with the presence of SIRS. CONCLUSION: The high level of preoperational blood glucose, abnormal preoperative white blood cell counting, and long operative time were significantly correlated with the presence of SIRS in patients with type 2 diabetes after PCNL.

[Risk factor analysis of systemic inflammatory response syndrome in type 2 diabetics after percutaneous nephrolithotomy].

OBJECTIVE: To evaluate the risk factors of systemic inflammatory response syndrome (SIRS) in the patients with type 2 diabetes diagnosed with kidney stone after percutaneous nephrolithotomy (PCNL). METHODS: In this study, 461 patients with type 2 diabetes who received PCNL in Peking University People's Hospital from June 2006 to December 2015 were reviewed. There were 281 males and 180 females with an average age of 57 years were included, of whom, 137 were diagnosed with SIRS after PCNL. The demographic data, clinical features, and test results were compared between the patients with SIRS and without SIRS, trying to identify the correlation between their clinical characters and the occurrence of SIRS. RESULTS: The SIRS was significantly correlated with the patients' preoperative white blood cell counting (×109/L) [7.76 (4.00-17.96) vs. 6.31 (2.00-17.40), P<0.001], preoperational blood glucose level (mmol/L) [7.30 (3.08-19.90) vs. 6.40 (3.42-16.78), P<0.001], operative time (min) [75 (20-270) vs. 60 (20-200), P<0.001], length of stay (d) [12 (2-46) vs. 11 (3-29), P=0.019], staghorn stones [38.8% (33/85) vs. 27.7% (104/376), P=0.042], and preoperational urinary tract infection [36.8% (50/136) vs. 26.6% (81/304), P=0.032]. There was no significant correlation between the SIRS and the patients' age, body mass index, preoperative hemoglobin level, preoperative serum creatinine, and transfusion. In multivariate analysis, abnormal preoperative white blood cell counting (OR=3.194, 95% CI: 1.531-6.666, P=0.002), operative time longer than 60 min (OR=1.635, 95% CI: 1.088-2.456, P=0.018), and preoperational blood glucose level higher than normal 7.1 mmol/L were significantly correlated with the presence of SIRS. CONCLUSION: The high level of preoperational blood glucose, abnormal preoperative white blood cell counting, and long operative time were significantly correlated with the presence of SIRS in patients with type 2 diabetes after PCNL.

[Effectiveness of microsurgical crossover anastomosis in treating complicated obstructive azoospermia].

Objective: To evaluate the efficacy and safety of microsurgical crossover vasovasostomy in treating complicated obstructive azoospermia. Methods: The data of 14 patients with complicated obstructive azoospermia treated with microsurgical crossover vasovasostomy were reviewed from October 2012 to March 2016.Ten of them underwent microsurgical crossover vasovasostomy. Intraoperative exploration revealed that 2 patients had vas deferens injury and contralateral testicular atrophy or epididymal obstruction due to previous hernia repair; 7 patients had obstruction of intracorporeal vas deferens on one side and epididymal obstruction on the other side; the other 1 patient had unilateral vasal obstruction with contralateral epididymal obstruction. Furthermore, 4 patients underwent microsurgical crossover vasoepididymostomy, including 3 patients who had obstruction at caput epididymis on one side, and obstruction at cauda epididymis and distal vas deferens on the other side; the other patient had absence of vas deferens in the scrotum on one side, and testicular atrophy on the other side. Regular follow-up visits were conducted after the surgery. Results: Two patients were lost to follow-up; the other 12 patients were follow-up for an average of 11 (range: 2-23) months. In the 10 cases receiving microsurgical crossover vasovasostomy (including 2 patients lost to follow-up), 1 has not undergone semen re-analysis, 6 were confirmed patent, including 3 reporting spontaneous pregnancy. The patency rate in the 4 patients receiving microsurgical crosseover vasoepididymostomy was 2/4, with 1 patient reporting spontaneous pregnancy. There was no complaint of discomfort or complications following the surgery. Conclusions: Microsurgical crossover anastomosis may be effective and safe for patients with complicated obstructive azoospermia, according to preoperative assessment and intraoperative exploration. It allows natural conception for patients with refractory infertility. The microsurgical crossover anastomosis could be an effective therapy to achieve satisfactory patency of vas deferens.

Dual-channel compressed ultrafast photography for Z-pinch dynamic imaging.

The compressed ultrafast photography (CUP) can capture non-repetitive time-evolving events at 7 × 1013 fps, which is anticipated to find a diverse range of applications in physics, biomedical imaging, and materials science. The feasibility of diagnosing ultrafast phenomenon of Z-pinch by using the CUP has been analyzed in this article. Specifically, a dual-channel CUP design has been adopted for acquiring high quality reconstructed images and the strategies of identical masks, uncorrelated masks, and complementary masks have been compared. Furthermore, the image of the first channel was rotated by 90° to balance the spatial resolution between the sweep direction and the non-sweep direction. Both five synthetic videos and two simulated Z-pinch videos were chosen as the ground truth to validate this approach. The average peak signal to noise ratio of the reconstruction results is 50.55 dB for the self-emission visible light video and 32.53 dB for the laser shadowgraph video with unrelated masks (rotated channel 1). The simulation results show that the time-space-evolving process of plasma distribution can be well retold, and the phenomenon of plasma instability can be accurately diagnosed by the dual-channel CUP with unrelated masks (rotated channel 1). This study may promote the practical applications of the CUP in the field of accelerator physics.

[Application of epidemiological methods in health impact assessment].

Health impact assessment (HIA) system has been listed in the Outline of the Healthy China 2030 Plan and the Law of Basic Health Care and Health Promotion of the People's Republic of China, however, the technique guideline of HIA needs to be established and improved. This paper summarizes the applications of different epidemiological methods in HIA and focus on the introduction of the application of ecology model of health social determinants as theory basis in the establishment of HIA system along with the introduction of HIA cases in the world. The applications of epidemiological methods in domestic HIA research are limited. Therefore, appropriate applications of epidemiological methods should be strengthened in HIA guideline and system development, especially the applications of big health data, mobile health techniques, systems epidemiology and implementation science, to facilitate data collection and potential health hazard evaluation and surveillance for HIA, establishment and improvement of HIA system and the implementation of Healthy China Strategy.

[Clinical characteristics and CBS gene analysis of 13 cases with classic homocystinuria].

Objective: To analyze the clinical features and CBS gene variants of 13 patients with classic homocystinuria, and the strategies of individual treatment and prevention were explored. Methods: The general information, clinical manifestations, laboratory tests, cranial images, CBS gene variants, diagnosis and therapeutic strategies of 13 patients with classic homocystinuria admitted to the Department of Pediatrics of Children's Hospital Affiliated to Zhengzhou University and Peking University First Hospital from November 2013 to June 2021 were analyzed retrospectively. Results: There were 13 patients diagnosed at the age of 10 days to 14 years, 6 were male and 7 were female. There were 3 patients detected by newborn screening and received treatment at the asymptomatic stage. There were 10 patients clinically diagnosed at the age of 5 to 14 years. Their symptoms appeared at age of 1 to 6 years. The major clinical manifestations were marfanoid features, lens dislocation and (or) myopia, developmental delay, osteoporosis, and cardiovascular diseases. Brain magnetic resonance imaging showed asymmetric infarcts in 4 patients and hypomyelination in 1 case. Increased blood methionine, plasma total homocysteine and urinary total homocysteine with normal urinary methylmalonic acid were found in 13 patients. The biochemical features were consistent with classic homocystinuria. Totally 18 variants were identified in CBS gene of 13 patients, 10 variants were novel and 8 were reported. only 1 patient was partially responsive to vitamin B6 treatment, while 12 cases were non-responsive. They were mainly treated with low methionine diet and betaine supplement. Three vitamin B6 non-responsive cases received liver transplantation at age of 3, 8 and 8 years, respectively. Their blood methionine and total homocysteine returned to normal within a week after liver transplantation. One patient died. Prenatal diagnosis was performed for a fetus when the mother was pregnant again. Two pathogenic CBS gene variants were identified from the amniocytes as same as the proband. Conclusions: The clinical manifestations of classic homocystinuria are complex and variable. Blood amino acid analysis, serum or urine total homocysteine assay and gene analysis are critical for its diagnosis. There were 10 novel CBS gene varients were identified expanding the CBS gene varient spectrum. Liver transplantation is an effective treatment. Prenatal diagnosis is important to prevent classic homocysteinuria.

Long-term exposure to sodium nitrite and risk of esophageal carcinoma: a cohort study for 30 years.

The objective of this study is to investigate the risk of esophageal carcinoma in a cohort with long-term occupational exposure to sodium nitrite. The method used was a retrospective cohort study. A small wood screw manufacturer was founded in 1977 and closed down in 2000. In their production process, the sodium nitrite solution was used to serve as anticorrosive and coolant fluid. One hundred sixty workers in turning and milling shops had direct exposure to sodium nitrite through skin, mouth, and airway because of lack of occupational protective knowledge (study group), whereas 255 workers from other workshops without direct contact with sodium nitrite served as control group. The incidence, diagnosis, and treatment of esophageal carcinoma as well as other malignant tumors in these two groups were followed until the end of 2007. The sodium nitrite exposure time in the study group ranged from 16 to 23 years, with an average of 22.1 years. During 30 years of follow-up, there were 11 esophageal carcinomas and 10 other malignant tumors (4 hepatic cell carcinomas, 3 lung cancers, 2 breast cancers, and 1 leukemia) documented in the study group, while no cancer developed in the control group. The risk for esophageal carcinoma was significantly increased in the study group compared with the control group (relative risk = 1.26, 95% confidence interval = 1.08-1.46, chi-square = 116.83, P < 0.001). Long-term exposure to sodium nitrite markedly increases the risk of esophageal carcinoma in human body.

Positioning error analysis of the fraxion localization system in the intracranial stereotactic radiotherapy of tumors.

OBJECTIVE: To investigate positioning error analysis of the Fraxion localization system in the intracranial stereotactic radiotherapy of tumors. METHODS: 64 patients were divided into two groups: a control group (36 patients with the standard thermoplastic mask) and a model group (28 patients with the Fraxion localization system). 3D images of the treated position were obtained by cone-beam computed tomography (CBCT). Positioning errors were obtained by, respectively, registering these two sets of CBCT images to planning CT images, using a 6°-freedom robotic patient positioning system (HexaPOD Evo RT System). The changes in positioning errors with the Fraxion localization system and with the standard thermoplastic mask were analyzed. RESULTS: CBCT scan results of the model group showed that the mean of linear error of three directions [superior-inferior (SI), lateral (LAT), and anterior-posterior (AP)] was 0.710 ± 0.676 mm, 0.817 ± 0.687 mm, and 0.710 ± 0.685 mm, respectively. The corresponding PTV was 1.23 mm, 1.26 mm, and 1.36 mm. The differences between the 3D images and the planned CT images were significant (p < 0.001). CONCLUSION: The Fraxion radiotherapy system can not only improve the positioning accuracy and reduce positioning errors but also narrow the PTV margin and reduce the radiated volume of normal tissue.

Wrist ROM measurements using smartphone photography: Reliability and validity.

No one has validated measuring the wrist's active range of motion (ROM) using smartphone images in patients. It is not known whether pathological factors affect the accuracy of this measurement technique. The purpose of this study was to assess if smartphone photography is as reliable and valid as manual goniometry for measuring wrist joint ROM. We reviewed 38 wrists in 38 patients (21 women and 17 men) with a mean age of 45 years (range, 26-60). Smartphones were used to take digital photos of injured wrists at extremes of wrist motion, including flexion, extension, radial and ulnar deviation. The mean difference in measured ROM between the two measurement methods (digital photos and handheld goniometer) was compared using Student's t test and the relationship determined using Pearson correlation coefficients. Bland-Altman analysis was used to define the limits of agreement (LOA). No significant difference was found when comparing the wrist ROM in the four positions using manual goniometry and digital measurements from photos taken by a surgeon. Between the goniometer measurements and digital photos taken by a surgeon, the Pearson coefficients were high, with most being above 0.8 for the four positions. The Pearson coefficients also show the smartphone measurements were highly precise. There was high reliability between the photographs taken by surgeons and by patients, as well as high interobserver reliability. Smartphone photography is a reliable and valid method to measure wrist joint ROM in patients. This measurement method can be used to measure outcomes.

Comparative study of different treatments for malignant tracheoesophageal/bronchoesophageal fistulae.

The aim of this study is to compare the survival time and quality of life (QOL) of patients who have received different treatment for tracheoesophageal/bronchoesophageal fistula. Between January 2003 and December 2007, 35 patients with malignant tracheoesophageal/bronchoesophageal fistula were recorded as the control group, gastrostomy group, and stenting group, respectively, according to the treatments they chose. Two weeks after the treatment, European Organization for Research and Treatment of Cancer Quality of Life Core 30 Questionnaire (QLQ-C30), Quality of Life Questionnaire-esophageal module (QLQ-OES18), and a respiratory symptom-related QOL index are employed to assess QOL of these patients. There is no significant difference in survival time and constituent ratio of death reason among groups. Except for eight patients who died within 2 weeks after the treatment, all other 27 patients returned back the questionnaires. As compared to the control group, patients in the gastrostomy group gained a low score in emotional function and financial situation, while patients in the stenting group had lower scores in financial problems and seven respiratory and eating-related symptoms. In contrast with the gastrostomy group, patients in stenting group had higher scores in emotional and social functions, and lower scores in six respiratory and eating-related symptoms. With patients' QOL considered, the self-expandable coated stenting should be the first choice of therapy for malignant tracheoesophageal/bronchoesophageal fistula, whereas gastrostomy should be kept from use.