Optical transmission of microwave control signal towards large-scale superconducting quantum computing.

With the rapid development of superconducting quantum computing and the implementation of surface code, large-scale quantum computing is emerging as an urgent demand. In a superconducting computing system, the qubit is maintained in a cryogenic environment to avoid thermal excitation. Thus, the transmission of control signals, which are generated at room temperature, is needed. Typically, the transmission of these signals to the qubit relies on a coaxial cable wiring approach. However, in a large-scale computing system with hundreds or even thousands of qubits, the coaxial cables will pose great space and heat load to the dilution refrigerator. Here, to tackle this problem, we propose and demonstrate a direct-modulation-based optical transmission line. In our experiment, the average single-qubit XEB error and control error are measured as 0.139% and 0.014% separately, demonstrating the feasibility of the optical wiring approach and paving the way for large-scale superconducting quantum computing.

Comparison of the Therapeutic Effects of Iodine-125 Seed Implantation and Conventional Radiochemotherapy for Advanced Esophageal Cancer.

BACKGROUND: The purpose of this study was to explore the feasibility, safety and efficacy of iodine-125 seed implantation in the treatment of dysphagia of advanced esophageal cancer. METHODS: We retrospectively analyzed patients with advanced esophageal cancer who underwent EUS-guided iodine-125 seed implantation or conventional chemoradiotherapy in our hospital. The propensity score match was used to reduce the baseline differences. RESULTS: A total of 127 patients were enrolled, 17 patients received EUS-guided iodine 125 seed implantation (Group A), 31 patients received radiotherapy (Group B), 38 patients received chemotherapy (Group C) and 41 patients received chemotherapy combined with radiotherapy (Group D). At half month postoperatively, the dysphagia remission rate in Group A (100%) was better than that in Groups B (39.3%), C (20%), D (15.8%), respectively, in the original cohort (P < 0.01); At 1 month postoperatively, the dysphagia remission rate in Group A (86.7%) was better than that in Group B (57.1%) (P > 0.05), Group C (25.7%) (P < 0.05) and Group D (34.2%) (P < 0.05), respectively, in the original cohort. There was no statistically significant difference in median overall survival (OS) between Group A (16 months) and Group B (37 months) (P = 0.149), and between Group A (16months) and Group C (16 months) (P = 0.918) in the original cohort. The mean OS of Group D (54 months) was better than that of Group A (20 months) in the original cohort (P = 0.031). The incidences of grade ≥2 myelosuppression in Groups B, C, and D were 12.9%, 28.9%, and 43.9%, respectively; the incidence of grade ≥2 gastrointestinal adverse events in Groups B, C, and D were 12.9%, 15.8%, 12.2%, respectively. No serious adverse events were found in Group A. The radiation dose around the patient was reduced to a safe range after the distance from the implantation site was more than 1 m (4.2 ± 2.6 µSv/h) or with lead clothing (0.1 ± 0.07 µSv/h). CONCLUSIONS: Compared with conventional radiotherapy or chemotherapy alone, iodine-125 seed implantation might improve dysphagia more quickly and safely, further clinical data is needed to verify whether it could effectively prolong the OS of patients.

Sustainable Superhydrophobic Surface with Tunable Nanoscale Hydrophilicity for Water Harvesting Applications.

Superwettable surfaces show great potential in water harvesting applications, however, a scalable water harvesting surface remains elusive due to the trade-off between water deposition and transport. Herein, we report a unique superhydrophobic surface with tunable nanoscale hydrophilicity constructed by structured Pickering emulsions. Preferential exposure of the cellulose nanocrystal's outer surface and wax microspheres accelerates droplet deposition allowing for the manipulation of droplet mobility. Appropriate tuning of the wetting characteristics of the surfaces, optimizing the hydrophobicity and density of the water affinity nanodomains enhance the water deposition rate without the sacrifice of water transport rate, achieving an optimal water harvesting flux of 3.402 L m-2 h-1 for a plate and 5.02 L m-2 h-1 for a mesh. This hydrophilic/superhydrophobic surface allows the controllable manipulation of droplet nucleation and removal to enhance the water harvesting efficiency.

The Cys2His2 zinc finger protein Zfp1 regulates sexual reproduction and virulence in Cryptococcus neoformans.

Cryptococcus neoformans is a ubiquitous yeast pathogen that often infects the human central nervous system (CNS) to cause meningitis in immunocompromised individuals. Although numerous signaling pathways and factors important for fungal sexual reproduction and virulence have been investigated, their precise mechanism of action remains to be further elucidated. In this study, we identified and characterized a novel zinc finger protein Zfp1 that regulates fungal sexual reproduction and virulence in C. neoformans. qRT-PCR and ZFP1 promoter regulatory activity assays revealed a ubiquitous expression pattern of ZFP1 in all stages during mating. Subcellular localization analysis indicates that Zfp1 is targeted to the cytoplasm of C. neoformans. In vitro assays of stress responses showed that zfp1Δ mutants and the ZFP1 overexpressed strains ZFP1OE are hypersensitive to SDS, but not Congo red, indicating that Zfp1 may regulate cell membrane integrity. Zfp1 is also essential for fungal sexual reproduction because basidiospore production was blocked in bilateral mating between zfp1Δ mutants or ZFP1 overexpressed strains. Fungal nuclei development assay showed that nuclei in the bilateral mating of zfp1Δ mutants or ZFP1 overexpressed strains failed to undergo meiosis after fusion, indicating Zfp1 is important for regulating meiosis during mating. Although zfp1Δ mutants showed normal growth and produced normal major virulence factors, virulence was attenuated in a murine model. Interestingly, we found that the ZFP1 overexpressed strains were avirulent in a murine systemic-infection model. Overall, our study showed that the zinc finger protein Zfp1 is essential for fungal sporulation and virulence in C. neoformans.

Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.

Mucolipidosis II α/ß, mucolipidosis III α/ß, and mucolipidosis III γ are autosomal recessive disorders belonging to the family of lysosomal storage disorders caused by deficiency of the UDP-N-acetylglucosamine, a lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase) localized in the Golgi apparatus, which is essential for normal processing and packaging of soluble lysosomal enzymes with initiating the first step of tagging lysosomal enzymes with mannose-6-phosphate (M6P). Mucolipidosis II and III are caused by mutations in the GNPTAB and GNPTG genes, and patients with these diseases are characterized by short stature, skeletal abnormalities, and developmental delay. In this study we report 38 patients with mucolipidosis II and III enrolled in Eastern China during the past 8 years. The diagnosis was made based on clinical characteristics and measurement of plasma lysosomal enzyme activity. Sanger sequencing of GNPTAB and/or GNPTG for all patients and real-time quantitative PCR were performed to confirm the diagnosis. In addition, 11 cases of prenatal mucolipidosis II were diagnosed based on measurement of the enzyme activity in amniotic fluid supernatant and genetic testing of cultured amniotic cells. Based on molecular genetic tests, 30 patients were diagnosed with mucolipidosis II α/ß, 6 were diagnosed with III α/ß and 2 were diagnosed with III γ. Thirty-seven different GNPTAB gene mutations were identified in 29 patients with mucolipidosis II α/ß and six patients with III α/ß. These mutations included 22 new mutations (p.W44X, p.E279X, p.W416X, p.W463X, p.Q802X, p.Q882X, p.A34P, p.R334P, p.D408N, p.D534N, p.Y997C, p.D1018V, p.L1025S, p.L1033P, c.88_89delAC, c.890_891insT, c.1150_1151insTTA, c.1523delG, c.2473_2474insA, c.2980_2983delGCCT, c.3094delA, and deletion of exon 9). Four new GNPTG gene mutations were identified (c.13delC, p.Y81X, p.G126R and c.609+1delG) in two mucolipidosis III γ patients. Among the 11 cases of prenatal diagnosis, four were mucolipidosis II fetuses, three were heterozygous, and the remaining four were normal fetuses. This study expands the mutation spectrum of the GNPTAB and GNPTG genes and contributes to specific knowledge of mucolipidosis II/III in a population from Eastern China.

[Correlation between fractional exhaled nitric oxide and airway reversibility in children with IgE-mediated asthma].

OBJECTIVE: To study the correlation between fractional exhaled nitric oxide (FeNO) and airway reversibility in children with IgE-mediated asthma. METHODS: A total of 86 children, aged 6-14 years, who were initially diagnosed with acute attack of asthma from September 2016 to August 2018 were enrolled as subjects. According to the results of serum specific IgE, they were divided into IgE mediated group with 61 children and non-IgE mediated group with 25 children. According to the results of allergen detection, the IgE mediated group was further divided into four groups with one, two, three, and four or more positive allergens. FeNO and the parameters of pulmonary ventilation function before and after dilation test were measured. Pearson correlation analysis was used to evaluate the correlation of FeNO with each parameter of pulmonary function. RESULTS: The IgE mediated group had significantly higher FeNO than the non-IgE mediated group (P<0.05). FeNO increased with the increase in the number of positive serum specific allergens (P<0.05). In the IgE mediated group, FeNO level was positively correlated with the change in forced expiratory volume in the first second (FEV1) and the improvement in percentage of predicted FEV1 after medication in bronchial dilation test (r=0.655 and 0.473 respectively, P<0.05). The FeNO level was not correlated with FEV1, percentage of predicted FEV1, peak expiratory flow (PEF), change in PEF after medication, percentage of predicted PEF (PEF%pred), and improvement in PEF%pred after medication (P>0.05). In the non-IgE mediated group, FeNO level was not correlated with the above indicators (P>0.05). CONCLUSIONS: FeNO level is associated with the degree of allergies. For children with IgE-mediated asthma, FeNO is positively correlated with airway reversibility, which has a certain value in the diagnosis of asthma, disease evaluation, and understanding of airway reversibility. For children with non-IgE-mediated asthma, FeNO cannot be used to evaluate airway reversibility. These two types of asthma should be treated differently.

Quantum nondestructive determination of qubit states in low-Q cavities via single-photon input-output process.

We present an efficient proposal to realize quantum nondestructive determination (QNDD) of unknown single-qubit states in two types of low-Q cavities, i.e., single-sided and double-sided cavity QED systems. In the dispersive regime, we demonstrate that the QNDD of single-qubit states can be realized by detecting qubit-state-dependent phase shifts (QSDPSs) of the reflected or transmitted photons from the cavity in the single-photon input-output process. Our proposal could be straightforwardly extended to the case of multiple-qubit states. Furthermore, the experimental feasibility of our proposal is also analyzed in experimentally-demonstrated circuit QED systems. The distinct feature of our proposal is that our proposal works in the dispersive regime of low-Q cavities and it is robust to both cavity decay and atomic spontaneous emission.

[Inhibition effects of wood vinegar on Alternaria panax and Botrytis cinerea].

OBJECTIVE: Less fungicides could be used to biocontrol Alternaria panax and Botrytis cinerea, this experiment can offer preliminary theory for wood vinegar as a botanic fungicide. METHODS: The in vitro inhibition activities of wood vinegar on Alternaria panax and Botrytis cinerea were tested by using mycelial growth rate method and spore germination method. RESULTS: Inhibition of mycelium growth rate to Alternaria panax was 100% when the concentration of wood vinegar was no less than 3.0%, while the inhibition of mycelium growth rate and spore germination rate were 70.68% and 84.47%, respectively, at concentration of wood vinegar 2.25%. Inhibition of mycelium growth rate and spore germination rate to Botrytis cinerea were 100% when the concentration of wood vinegar was no less than 2.25%. CONCLUSION: Wood vinegar concentration of no less than 2.25% can be used as a biocontrol agent of Alternaria panax and Botrytis cinerea, it is useful for the further field trial.

[Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency].

OBJECTIVE: To report on 5 patients with maternal 3-methylcrotonyl coenzyme A carboxylase deficiency (MCCD) and to confirm the clinical diagnosis through mutation analysis. METHODS: Five neonates with higher blood 3-hydroxy isovalerylcarnitine (C5-OH) concentration detected upon newborn screening with tandem mass spectrometry and their mothers were recruited. Urinary organic acids were analyzed with gas chromatography mass spectrometry. Gene mutation and protein function analysis were performed by PCR direct sequencing and PolyPhen-2 software. RESULTS: Higher blood C5-OH concentrations (5.11-21.77 µmol/L) and abnormal 3-hydroxy isovalerate and 3-methylcrotonyl glycine in urine were detected in the five asymptomatic mothers, who were diagnosed as benign MCCD. Higher C5-OH concentration was also detected in their neonates by tandem mass spectrometry, which had gradually decreased to normal levels in three neonates. Four new variations, i.e., c.ins1680A(25%), c.203C > T (p.A68V), c.572T > C (p.L191P) and c.639+5G > T were detected in the MCCC1 gene, in addition with 2 mutations [c.1406G > T (p.R469L, novel variation) and c.592C > T (p.Q198X)]. The novel variations were predicted to have affected protein structure and function. CONCLUSION: For neonates with higher C5-OH concentration detected upon neonatal screening, their mothers should be also tested to rule out MCCD. Mutations in MCCC1 gene are quite common.

[Diagnosis and treatment of isolated methylmalonic acidemia].

OBJECTIVE: To explore the clinical feature, therapeutic effect and prognosis of isolated methylmalonic acidemia. METHODS: The clinical characteristics, laboratory findings, treatment and outcome of 40 patients were retrospectively analyzed. The main treatment was a low-protein diet supplemented with L-carnitine and special milk free of leucine, valine, threonine and methionine. Vitamin B12 was also given to cobalamin responders. The patients were followed up every 1-3 months. RESULTS: Mutations in the MUT gene were identified in 30 of 33 patients who had accepted DNA testing. Thirty cases were treated and followed up regularly for from 1 month to 8 years. Eight cases had died, 8 had developed normal intelligence, among whom 4 from newborn screening were asymptomatic. Psychomotor developmental delay and mental retardation were present in 14 cases. The propionylcarnitine level, ratio of propionylcarnitine/acetylcarnitine in blood, methylmalonic acid and methylcitric acid levels in urine have decreased significantly, with the median values reduced respectively from 24.15 (7.92-81.02) µmol/L, 1.08 (0.38-6.01), 705.34 (113.79-3078.60) and 7.71 (0.52-128.21) to 10.50 (3.00-30.92) µmol/L, 0.63 (0.25-2.89), 166.23 (22.40-3322.21) and 3.96 (0.94-119.13) (P < 0.05). CONCLUSION: The prognosis of isolated methylmalonic acidemia may be predicted with the enzymatic subgroup, age at onset and cobalamin responsiveness. Outcome is unfavorable in neonatal patients and those who were non-responsive to cobalamin.

[Analysis of propionylcarnitine in blood and methylmalonic acid in urine of 162 patients with methylmalonic acidemia].

OBJECTIVE: To analyze the levels of methylmalonic acid and methylcitrate in urine, propionylcarnitine (C3) in plasma and C3/acetylcarnitine (C2) of patients with methylmalonic acidemia (MMA) and explore their applications in the diagnosis of MMA. METHODS: From December 2003 to March 2012, a total of 162 patients with MMA (MMA group) and 200 healthy children (control group) of Xinhua Hospital, Shanghai Jiaotong University School of Medicine were recruited. MMA patients with a definite classification were divided into 2 groups: isolate MMA group (n = 51) and MMA complicated with homocysteinemia group (n = 65). Gas chromatography-mass spectrometry was used to measure the urine levels of methylmalonic acid and methylcitrate and tandem mass spectrometry to measure the blood levels of free carnitine (C0), acylcarnitines and methionine (Met). RESULTS: In the MMA group, the median levels of methylmalonic acid (259.10 (6.73 - 6429.28)), methylcitrate (4.39 (0 - 248.96)), C3 (8.52 (1.50 - 52.11) µmol/L) and C3/C2 (0.73(0.28 - 2.89)) were all higher than the upper limit values (0.2 - 3.6, 0 - 1.1, 0.50 - 4.00 µmol/L and 0.04 - 0.25 respectively). And they were all higher than those in the control group (0 (0 - 1.87), 0.10 (0 - 1.84), 1.40 (0.53 - 3.90) µmol/L, 0.10 (0.04 - 0.23), all P < 0.01). C3/C2 increased significantly in 15 patients while the C3 level remained normal. The median level of Met was normal in the isolate MMA group. But in patients with homocysteinemia, the level of 8.71 (0.68 - 31.95) µmol/L was below the reference value (10.00 - 35.00 µmol/L) and lower than that in the isolate MMA group (15.35 (4.18 - 59.50) µmol/L) and the control group (15.59 (10.20 - 34.68) µmol/L, all P < 0.05). CONCLUSIONS: Significant increases in the urine level of methylmalonic acid and C3/C2 may be specific to MMA. Organic acid analyses of gas chromatography-mass spectrometry and acylcarnitines with tandem mass spectrometry are required for a definite diagnosis of this disorder. And repeated tests and genomic mutation analysis are necessary for patients with mildly abnormal biochemical indices.

Prognostic analysis and treatment utilization of different treatment strategies in elderly esophageal cancer patients with distant metastases: a SEER database analysis.

PURPOSE: The purpose of this study was to explore which therapeutic strategy is more beneficial for elderly esophageal cancer (EC) patients with distant metastasis, the treatment utilization status and the screening of factors related to prognosis, so as to better guide the treatment of these patients. METHODS: Patients in the Surveillance Epidemiology and End Results (SEER) database were divided into chemoradiotherapy (Group A), chemotherapy (Group B), radiotherapy (Group C), and no treatment (Group D) according to different treatment methods. Propensity score matching (PSM) was performed to adjust for baseline differences between the two groups. Overall survival (OS) and esophageal cancer-specific survival (ECSS) was calculated using the Kaplan-Meier method and compared using the log-rank test. RESULTS: A total of 7027 patients were included in this study, 5739 males (81.7%) and 1288 females (18.3%) with the median age was 70 (60-98). In the original cohort, the number of patients in the four groups was 2260 (Group A), 2087 (Group B), 945 (Group C) and 1735 (Group D), respectively. After PSM, there was no significant difference in mean OS (A vs B, 13.5 months VS 13.4 months, P = 0.511) and mean ECSS (A vs B, 15.6 vs 15.5 months, P = 0.374), while both OS (B vs C, 7 vs 3 months, P < 0.001) and ECSS (B vs C, 8 vs 3 months, P < 0.001) of chemotherapy alone were significantly better than those of radiotherapy alone. Subgroup analysis of patients older than 80 years showed that the median OS (A vs B, 7 vs 6 months) and median ECSS (A vs B, 8 vs 7 months) of Group A were significantly better than those of Group B (P < 0.05). In addition, all patients were randomly divided into a training set and a validation set with a ratio of 7:3. Based on the independent risk factors for OS, a nomogram model was constructed and validated. CONCLUSION: For elderly EC patients with distant metastasis, aggressive treatment was still necessary after a comprehensive assessment of the patient's physical condition, especially for patients over 80 years old, and chemoradiotherapy maybe still the first choice. In addition, a nomogram model was constructed to intuitively and accurately evaluate the prognosis of this population.

Proposal to classify Ralstonia solanacearum phylotype I strains as Ralstonia nicotianae sp. nov., and a genomic comparison between members of the genus Ralstonia.

A Gram-negative, aerobic, rod-shaped, motile bacterium with multi-flagella, strain RST, was isolated from bacterial wilt of tobacco in Yuxi city of Yunnan province, China. The strain contains the major fatty acids of C16:0, summed feature 3 (C16:1 ω7c and/or C16:1 ω6c), and summed feature 8 (C18:1 ω7c and/or C18:1 ω6c). The polar lipid profile of strain RST consists of diphosphatidylglycerol, phosphatidylglycerol, phosphatidylethanolamine, and unidentified aminophospholipid. Strain RST contains ubiquinones Q-7 and Q-8. 16S rRNA gene sequence (1,407 bp) analysis showed that strain RST is closely related to members of the genus Ralstonia and shares the highest sequence identities with R. pseudosolanacearum LMG 9673T (99.50%), R. syzygii subsp. indonesiensis LMG 27703T (99.50%), R. solanacearum LMG 2299T (99.28%), and R. syzygii subsp. celebesensis LMG 27706T (99.21%). The 16S rRNA gene sequence identities between strain RST and other members of the genus Ralstonia were below 98.00%. Genome sequencing yielded a genome size of 5.61 Mbp and a G + C content of 67.1 mol%. The genomic comparison showed average nucleotide identity (ANIb) values between strain RST and R. pseudosolanacearum LMG 9673T, R. solanacearum LMG 2299T, and R. syzygii subsp. indonesiensis UQRS 627T of 95.23, 89.43, and 91.41%, respectively, and the corresponding digital DNA-DNA hybridization (dDDH) values (yielded by formula 2) were 66.20, 44.80, and 47.50%, respectively. In addition, strains belonging to R. solanacearum phylotype I shared both ANIb and dDDH with strain RST above the species cut-off values of 96 and 70%, respectively. The ANIb and dDDH values between the genome sequences from 12 strains of R. solanacearum phylotype III (Current R. pseudosolanacearum) and those of strain RST were below the species cut-off values. Based on these data, we concluded that strains of phylotype I, including RST, represent a novel species of the genus Ralstonia, for which the name Ralstonia nicotianae sp. nov. is proposed. The type strain of Ralstonia nicotianae sp. nov. is RST (=GDMCC 1.3533T = JCM 35814T).

Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.

BACKGROUND: The aim of this study was to characterize the variable phenotypes and outcomes associated with the methylmalonic aciduria and homocystinuria type C protein gene (MMACHC) c.482G > A mutation in 195 Chinese cases with CblC disease. METHODS: We carried out a national, retrospective multicenter study of 195 Chinese patients with CblC disease attributable to the MMACHC c.482G > A variant either in a homozygous or compound heterozygous state. The control group consisted of 200 patients diagnosed with CblC disease who did not possess the c.482G > A mutation. Clinical features, including disease onset, symptoms, biochemical metabolites, gene mutation, and follow-up outcomes were reviewed and analyzed in detail. The median follow-up period spanned 3 years and 8 months, with a range of 1 year and 2 months to 12 years and 10 months. RESULTS: Among 195 patients carrying the c.482G > A variant, 125 (64.1%) cases were diagnosed by newborn screening (NBS), 60 (30.8%) cases were detected due to disease onset, and 10 (5.1%) cases were identified from sibling diagnoses. One hundred and seventeen (93.6%) individuals who were diagnosed by NBS, and nine patients who came from sibling diagnoses remained asymptomatic in this study. From 69 symptomatic patients of the c.482G > A group, more patients presented with later onset, and the top six common clinical symptoms at disease onset were developmental delay (59.4%), lower limb weakness and poor exercise tolerance (50.7%), cognitive decline (37.7%), gait instability and abnormal posture (36.2%), seizures (26.1%), and psychiatric and behavioral disturbances (24.6%). In the 159 symptomatic patients lacking c.482G > A variants, the most frequently observed clinical manifestations at disease onset included developmental delay (81.8%), lethargy and feeding difficulty (62.9%), lower limb weakness and poor exercise tolerance (54.7%), prolonged neonatal jaundice (51.6%), vomiting (47.2%), and seizures (32.7%). Before treatment, the levels of blood propionylcarnitine, propionylcarnitine/acetylcarnitine ratio, and homocysteine in the c.482G > A group were significantly lower (P < 0.05) than those in the non-c.482G > A group, while the concentration of urinary methylmalonic acid was slightly lower (P > 0.05). The degree of decline in the above metabolites after treatment in different groups significantly differed in both plasma total homocysteine values and urinary methylmalonic acid levels (P < 0.05). In patients carrying the c.482G > A variant compared with the non-c.428G > A group, there were markedly lower rates of mortality (0.5% vs. 2.0%) and developmental delay (20.5% vs. 65.5%). When compared with individuals diagnosed due to disease onset, those identified through NBS in either group exhibited a reduced proportion of disease onset (6.7% vs. 100% in the c.482G > A group, 54.4% vs. 100% in the non-c.482G > A group), lower mortality (0.0% vs. 1.7% in the c.482G > A group, 0.0% vs. 3.6% in the non-c.482G > A group), and had a higher percentage of patients exhibiting normal psychomotor and language development (99.3% vs. 33.3% in the c.482G > A group, 58.9% vs. 10.9% in the non-c.482G > A group). CONCLUSIONS: The c.482G > A variant in MMACHC is associated with late-onset and milder phenotypes of CblC disease. Patients with this mutation tend to have a relatively better response to hydroxocobalamin, better metabolic control, and more favorable neurological outcomes. NBS and other appropriate pre-symptomatic treatments seem to be helpful in early diagnosis, resulting in favorable clinical outcomes. Video Abstract (MP4 136794 kb).

[Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I].

OBJECTIVE: To analyze clinical data and gene mutations in 3 Chinese patients with tyrosinemia type I, and to explore the correlation between genotypes and phenotypes. METHODS: Three patients suspected with tyrosinemia I were tested by tandem mass spectrometry for the level of tyrosine, phenylalanine and succinylacetone in the blood, and by gas chromatography-mass spectrometry to determine the level of succinylacetone and organic acid in their urine. With the diagnosis established, the FAH gene was analyzed with polymerase chain reaction (PCR) and direct sequencing. RESULTS: Two patients had acute onset of the disease, while another had subacute onset of the disease, with features including hepatomegaly and remarkably increased tyrosine and succinylacetone in the blood. Five mutations were detected in the FAH gene, which included c.455G>A (W152X), c.520C>T (R174X), c.974_976delCGAinsGC, c.1027 G>A (G343R) and c.1100 G>A (W367X), among which c.455G>A (W152X), c.974_976delCGAinsGC and c.1100 G>A (W367X) were not reported previously. CONCLUSION: Tyrosinemia type I may be effectively diagnosed with the level of tyrosine and succinylacetone by tandem mass spectrometry and succinylacetone in the urine by gas chromatography mass spectrometry. Detection of underlying mutations mutations will be helpful for genetic counseling and further research.

[Clinical characteristics and analysis of mass spectrometric data in 33 patients with maple syrup urine disease].

OBJECTIVE: To explore the clinical characteristics and the diagnostic method of maple syrup urine disease (MSUD). METHODS: From January 2003 to December 2011, a total of 14 000 patients with suspected inherited metabolism diseases were tested. The blood levels of leucine and valine of these patients were detected by tandem mass spectrometry. The urinary level of branched-chain α-ketoacids was tested by gas chromatography-mass spectrometry. And the diagnosis was based on the elevated levels of leucine and valine in blood and branched-chain α-ketoacids in urine. RESULTS: Thirty-three MSUD patients were confirmed. Their median age of initial visit was 0.17 years old (range: 7 days to 30 years old). The peak onset age of them was 2-30 days old, including 28 cases of neonatal onset (84.8%). The presenting symptoms of 28 cases were feeding difficulties (n=14), poor response, lethargy and seizures. Their median blood levels of leucine and valine (1901 (458-5804) and 600 (315-1617) µmol/L) were significantly higher than their normal levels ((50-300) and (60-250) µmol/L, both P<0.01). Their urinary levels of 2-OH-isovaleric acid, 2-keto-isovaleric acid, 2-keto-3-methylvaleric acid, 2-keto-isocaproic and acetylglycine (262.5 (5.4-624.3), 35.8 (1.9-156.0), 133.8 (7.4-611.5), 518.7 (17.2-2121.2) and 280.5 (11.0-1087.9) respectively) significantly higher than their normal levels (0, <0.1, 0, 0, <0.1 respectively, all P<0.01). In 5 intermittent MSUD patients, their blood levels of leucine and valine (402 (348-958) and 556 (322-808) µmol/L) were significantly higher than their normal levels (both P<0.01). The urinary level of 2-OH-isovaleric acid was significantly higher than its normal levels (P<0.01) while the urinary levels of other α-ketoacids were normal. CONCLUSIONS: The confirmation of MSUD remains difficult because of a lack of specific clinical features. The detections of tandem mass spectrometry and gas chromatography-mass spectrometry may aid its early diagnosis.

[Toxical research of Kudiezi injection in safety re-evaluation].

OBJECTIVE: To explore the toxic effect on mouse administrated Kudiezi injection multy times a day, and on rats repeat administrated for many days. METHOD: Mouse tail intravenous injection of Kudiezi, 0.04 mL x g(-1), 3 times a day, rats tail intravenous injection of Kudiezi, 20, 10, 4 mL x kg(-1), once a day, for 6 weeks. RESULT: There is no abnormal to the mouses administrated many times a day. The rats administrated large doses of drug for many days have certain effects on hematology, blood biochemistry. Some animals appear liver, kidney lesions mild, injection local appear haemorrhage, edema and inflammatory reaction. CONCLUSION: The mouse which was intravenous injection in the dose of 180 times Kudiezi injection as much as people used, revealed no toxicity reaction. Repeated large-dose administration, rats caused by lesions of the main target organs may be for kidney, liver. But the recovery result on liver, kidney toxicity was reversible, no delayed toxicity. At the same time, large doses of long-term administration of local have a certain irritation. Tips the medication should be under the guidance of doctors, and pay attention to replace the injection site. This research will provide safety basis for the clinical use of Kudiezi injection.

Factors related to stent patency and early elimination of jaundice using bile duct stent combined with iodine-125 seed implantation in malignant obstructive jaundice.

Purpose: Biliary stents combined with percutaneous or endoscopic ultrasound-guided iodine-125 seed implantation into primary tumor have been confirmed to relieve malignant obstructive jaundice (MOJ), and prolong patient's stent patency. The aim of the study was to evaluate meaningful clinical application indications and better guide the application of this technology. Material and methods: Patients with MOJ, who have received bile duct stenting combined with iodine-125 (125I) seed implantation from October, 2010 to April, 2022, were retrospectively analyzed. Univariate and multivariate analyses were adopted to indicate factors of stent patency in MOJ and influencing factors of jaundice reduction at one week after surgery. Results: A total of 90 patients were enrolled into the study, including 52 males (57.8%) and 38 females (42.2%), with a mean age of 68.66 ±12.53 years. The median stent patency was 8 months. No serious adverse events occurred during follow-up. Multivariate analysis showed that Child-Pugh score (HR = 2.221, 95% CI: 1.081-4.562), biliary infection (HR = 1.901, 95% CI: 1.084-3.335), and pre-operative jaundice duration (HR = 1.977, 95% CI: 1.106-3.533) were the independent risk factors for stent patency. Child-Pugh B/C (OR = 4.647, 95% CI: 1.080-19.982) and bile duct infection (OR = 3.583, 95% CI: 1.095-11.725) were the independent risk factors for jaundice reduction at one week after surgery. Conclusions: MOJ patients treated with biliary stents combined with 125I seed implantation, and patients with better pre-operative liver function and no biliary tract infection, present not only longer biliary stent patency, but also better early jaundice reduction.

Virtual reality for neurorehabilitation: A bibliometric analysis of knowledge structure and theme trends.

Background: As an emerging technology, virtual reality (VR) has been broadly applied in the medical field, especially in neurorehabilitation. The growing application of VR therapy promotes an increasing amount of clinical studies. In this paper, we present a bibliometric analysis of the existing studies to reveal the current research hotspots and guide future research directions. Methods: Articles and reviews on the related topic were retrieved from the Science Citation Index Expanded of Web of Science Core Collection database. VOSviewer and Citespace software were applied to systematically analyze information about publications, countries, institutions, authors, journals, citations, and keywords from the included studies. Results: A total of 1,556 papers published between 1995 and 2021 were identified. The annual number of papers increased gradually over the past three decades, with a peak publication year in 2021 (n = 276). Countries and institutions from North America and Western European were playing leading roles in publications and total citations. Current hotspots were focused on the effectiveness of VR therapy in cognitive and upper limb motor rehabilitation. The clusters of keywords contained the four targeted neurological diseases of VR, while the burst keywords represented that the latest studies were directed toward more defined types of VR therapy and greater study design. Conclusions: Our study offers information regarding to the current hotspots and emerging trends in the VR for rehabilitation field. It could guide future research and application of VR therapy in neurorehabilitation.

Topographical Design and Thermal-Induced Organization of Interfacial Water Structure to Regulate the Wetting State of Surfaces.

Smart surfaces with superhydrophobic/superhydrophilic characteristics can be controlled by external stimuli, such as temperature. These transitions are attributed to the molecular-level conformation of the grafted polymer chains due to the varied interactions at the interface. Here, tunable surfaces were prepared by grafting two well-known thermo-responsive polymers, poly(N-isopropylacrylamide) (PNIPAM) and poly(oligoethylene glycol)methyl ether acrylate (POEGMA188) onto micro-pollen particles of uniform morphology and roughness. Direct Raman spectra and thermodynamic analyses revealed that above the lower critical solution temperature, the bonded and free water at the interface partially transformed to intermediate water that disrupted the "water cage" surrounding the hydrophobic groups. The increased amounts of intermediate water produced hydrogen bonding networks that were less ordered around the polymer grafted microparticles, inducing a weaker binding interaction at the interface and a lower tendency to wet the surface. Combining the roughness factor, the bulk surface assembled by distinct polymer-grafted-pollen microparticles (PNIPAM or POEGMA188) could undergo a different wettability transition for liquid under air, water, and oil. This work identifies new perspectives on the interfacial water structure variation at a multiple length scale, which contributed to the temperature-dependent surface wettability transition. It offers inspiration for the application of thermo-responsive surface to liquid-gated multiphase separation, water purification and harvesting, biomedical devices, and printing.