Aicardi-Goutières syndrome type 7 in a Chinese child: A case report.

BACKGROUND: IFIH1 is a protein-coding gene. Disorders associated with IFIH1 include Aicardi-Goutières syndrome (AGS) type 7 and Singleton-Merten syndrome type 1. Related pathways include RIG-I/MDA5-mediated induction of the interferon (IFN)-α/ß pathway and the innate immune system. AGS type 7 is an autosomal dominant inflammatory disorder characterized by severe neurological impairment. In infancy, most patients present with psychomotor retardation, axial hypotonia, spasticity, and brain imaging changes Laboratory assessments showed increased IFN-α activity with upregulation of IFN signaling and IFN-stimulated gene expression. Some patients develop normally in the early stage, and then have episodic neurological deficits. CASE SUMMARY: The 5-year-old girl presented with postpartum height and weight growth retardation, language retardation, brain atrophy, convulsions, and growth hormone deficiency. DNA samples were obtained from peripheral blood from the child and her parents for whole-exome sequencing and test of genome-wide copy number variation. Heterozygous mutations in the IFIH1 gene were found. Physical examination at admission found that language development was delayed, the reaction to name calling was average, there was no communication with people, but there was eye contact, no social smile, and no autonomous language. However, the child had rich gesture language and body language, could understand instructions, had bad temper. When she wants to achieve something, she starts crying or shouting. Cardiopulmonary examination showed no obvious abnormality, and abdominal examination was normal. Bilateral muscle strength and muscle tone were symmetrical and slightly decreased. Physiological reflexes exist, but pathological reflexes were not elicited. CONCLUSION: We reported the clinical characteristics of a Chinese child with a clinical diagnosis of AGS type 7, which expanded the mutational spectrum of the IFIH1 gene.

Correlation analysis between characteristics under gastroscope and image information of tongue in patients with chronic gastriti.

OBJECTIVE: To explore the correlation between diagnostic information of tongue and gastroscopy results of patients with chronic gastritis. METHODS: Frequent pattern growth (FP-Growth), SPSS Modeler was used to analyze the correlation rules between the image information of tongue parameters and the characteristics of the stomach and duodenum seen under gastroscopy. RESULTS: Ranking in order of confidence: cyanotic tongue, slippery fur, yellow fur and spotted tongue were sequently associated with both gastric antrum mucosal hyperemia or edema and gastric antrum mucosal erythema/macula. L, one value of tongue coating color, which counted among (30, 60), tooth-marked tongue and b, one value of tongue coating color, which counted in the range of (5, 20) were sequently associated with gastric antrum mucosal erythema /macula. A, one value of tongue body color, which counted in the range of (0, 20), was related to both gastric antrum mucosal hyperemia or edema and gastric antrum mucosal erythema /macula. a, one value of tongue coating color, which counted in the range of (15, 35), was associated with gastric antrum mucosal erythema / macula. There are a total of 9 strong correlation rules. CONCLUSIONS: Cyanotic tongue, slippery fur, yellow fur, the CIE Lab value of tongue coating, a, the value of tongue body color, spotted tongue, and tooth-marked tongue are all related to the gastric antrum mucosal hyperemia or edema and gastric antrum mucosal erythema / macula. The conditions of gastric mucosa could be predicted by the examination of the above related image information of tongue.

[Effects of "Grain for Green" program and coal mining on sediment production in a typical small watershed of Yushenfu Mining Region, Northwest China].

Soil erosion in the ecologically fragile zone is severely affected by the intensified coal mining activities in the Yushenfu Mining Region of the Loess Plateau. Soil erosion controlling projects such as the "Grain for Green" program are continuously implemented by the government, which has effectively mitigated or even controlled soil erosion. Coal mining results in new environmental problems, which has changed the erosion characteristics and sediment transport in watersheds. In this study, we identified the sediment source trapped behind the check dam using a composite fingerprinting approach and clarified the impact of "Grain for Green" program and coal mining on variation of the amount and sources of sediment during two decades, in a representative check-dam which controlled the watershed of Laoyeman. The two decades were divided into two stages, i.e. an earlier decade (1990-1999) and a later decade (2000-2010) with respect to the implement of the "Grain for Green" program in the flood couplets sequence established during the running of the dam. The annual average thickness of flood couplets during 2000-2010 decreased from (42.7±29.9) cm to (16.6±13.7) cm during 1990-1999, and the annual sediment deposition per unit area (square meter) at the sampling site reduced from 579.9 kg·m-2 to 245.8 kg·m-2. The main source of sediment was gully wall (averaged 79.2%±10.1%) during the study period. However, compared with sediment sources during 1990-1999, the contribution of sediment from slope during 2000-2010, which was greatly affected by the "Grain for Green" program, showed an increasing trend (average annual contribution increased by 7.4%). According to the coaling mining and the variation of rainfall erosivity, our results indicated that under the combined effects of the "Grain for Green" program and decreases of rainfall erosivity, the intensity of sediment production in the watershed was substantially decreased. Coal mining had important impacts on sediment contribution from the slope, and obviously affected soil erosion controlling effects of the "Grain for Green" program. It is obvious that coal mining has increased the risk of erosion and sediment production on the slope, and that soil erosion control on the slope should focus on areas affected by coal mining.

Feedback control of torsion balance in measurement of gravitational constant G with angular acceleration method.

The performance of the feedback control system is of central importance in the measurement of the Newton's gravitational constant G with angular acceleration method. In this paper, a PID (Proportion-Integration-Differentiation) feedback loop is discussed in detail. Experimental results show that, with the feedback control activated, the twist angle of the torsion balance is limited to [Formula: see text] at the signal frequency of 2 mHz, which contributes a [Formula: see text] uncertainty to the G value.

Sorafenib in combination with transarterial chemoembolization improves the survival of patients with unresectable hepatocellular carcinoma: a propensity score matching study.

OBJECTIVE: This prospective non-randomized controlled trial aimed to compare the efficacy of sorafenib in combination with transarterial chemoembolization (TACE) vs TACE alone for the treatment of patients with unresectable intermediate or advanced hepatocellular carcinoma. METHODS: A total of 304 patients were enrolled, in which 82 received concurrent sorafenib (400 mg orally twice daily, initiated within 14 days after TACE), and these patients were matched with 164 patients who received TACE alone at a 1:2 ratio using propensity score matching to minimize selection bias. The response to treatment, time-to-progression (TTP), overall survival (OS) as well as adverse events were compared between the two groups. RESULTS: During a median follow-up period of 21.4 weeks (range 0.5-103 weeks), the addition of sorafenib prolonged TTP (6.3 vs 4.3 months; hazard ratio [HR] 0.60, 95% CI 0.422-0.853, P = 0.004) and median survival (7.5 vs 5.1 months; HR 0.61, 95% CI 0.423-0.884, P = 0.009) compared with TACE alone. Significant prognostic factors for OS by multivariate analysis included the use of sorafenib, Barcelona Clinic Liver Cancer stage, metastasis/vascular invasion and Child-Pugh score. CONCLUSIONS: The combined use of sorafenib and TACE was generally well tolerated and significantly improved OS and TTP compared with TACE alone in patients with intermediate or advanced HCC. Further studies are warranted to confirm the safety and efficacy of this combination therapy.

Failure behavior and constitutive model of weakly consolidated soft rock.

Mining areas in western China are mainly located in soft rock strata with poor bearing capacity. In order to make the deformation failure mechanism and strength behavior of weakly consolidated soft mudstone and coal rock hosted in Ili No. 4 mine of Xinjiang area clear, some uniaxial and triaxial compression tests were carried out according to the samples of rocks gathered in the studied area, respectively. Meanwhile, a damage constitutive model which considered the initial damage was established by introducing a damage variable and a correction coefficient. A linearization process method was introduced according to the characteristics of the fitting curve and experimental data. The results showed that samples under different moisture contents and confining pressures presented completely different failure mechanism. The given model could accurately describe the elastic and plastic yield characteristics as well as the strain softening behavior of collected samples at postpeak stage. Moreover, the model could precisely reflect the relationship between the elastic modulus and confining pressure at prepeak stage.

[Study on inhibition of NO(x) and dioxin emissions by carbohydrazide under moderate to high temperatures].

Experimental researches were carried out on the inhibition effects of carbohydrazide (CHZ) on NO(x) and dioxin emissions under moderate to high temperatures, namely De-NO(x) effect of CHZ was investigated in the temperature range of 450-1 050 degrees C with the O2 concentration between 10.1% and 16.7%; and its suppression effect on dioxin emissions was studied both by spraying CHZ solution into incineration flue gases and by mixing CHZ in iron ore in the sintering pot. It was proved that CHZ could reduce NO(x) with dual temperature-linked peaks, i. e. the De-NO(x) efficiency peaks appeared both around 600 degrees C and 967 degrees C, with a vale around 850 degrees C. The results also indicated that CHZ had good suppression effect on dioxin synthesis in the fly ash precipitated in the temperature range of 250-450 degrees C when CHZ solution was sprayed into flue gases at proper temperatures; comparably, for dioxin emissions from the iron ore sintering pot, the more CHZ mixed into iron ore, the less dioxin emissions took place; when the mixture proportion of CHZ (mass fraction) was up to 0.1%, the concentration of PCDD/Fs in TEQ in sintering flue gases was decreased by 78.8% compared to the scenario without CHZ mixing, showing that CHZ is an effective inhibitors for reducing dioxin emissions in the iron ore sintering furnace. All of these results showed that CHZ is a potential inhibitor for dioxin emissions from incinerators and iron ore sintering furnaces as well as a reduction agent for NO(x).

[The evaluation of the treatment for the cavernous hemangioma and peripheral vascular disorders with copper needles].

OBJECTIVE: The goal of this study was to evaluate the effect of different methods of treating for the cavernous hemangioma and peripheral vascular disorders with copper needles. METHODS: 21 cases were treated with copper needle retention only, 57 cases were treated with copper needle retention combined with a direct current of 6 - 9 V, both the inserted needles were kept in the site until the reaction was over, for about 10 to 20 days, 27 cases were treated with copper needle insertion combined with a direct current, and then the affection was ablated immediately. RESULTS: The early effective rate, the long-term effective rate, and the recurrence rate of the total cases were 94.3% , 88.6% and 28.6% respectively. Among the 3 groups, ablation of the affection after the use of copper needles and a direct current occupied the best results; copper needle retention combined with a direct current had a better result than copper needle retention only, and might shorten the time for therapy for about 42.6% (P < 0.01); their long-term effective rate were 100%, 89.5% and 71.4% respectively. CONCLUSIONS: The treatment for the cavernous hemangioma and peripheral vascular disorders with copper needles have a commendable result, copper needle retention combined with a direct current has a better result than copper needle retention only.