Neonatal Cri du chat syndrome with atypical facial appearance: A case report.

BACKGROUND: Cri du chat syndrome (CdCS), also known as 5p deletion syndrome (5p-) is a syndrome caused by partial deletion of the 5p chromosome in human beings. The incidence accounts for 1/50000 and the cause of CdCS is related to partial deletion of chromosome 5 short arm (p). CdCS is a sporadic event. Only one case of CdCS was detected by chromosome screening in 125 and 170 pregnant Iranian women[1]. The most prominent clinical manifestations of CdCS are typical high-pitched cat calls, severe mental retardation or mental retardation and is most harmful to both language and growth retardation[2]. CdCS is a chromosome mutation disease which occurs during embryonic development and the symptoms of some cases are extremely atypical. It is difficult to make an early diagnosis and screening in clinic. We can suspect the disease from its atypical manifestations in the weak crying of cats, and chromosome karyotype analysis can find some questionable gene deletion fragments to assist the clinical diagnosis and prognosis of CdCS. CASE SUMMARY: A 2-d-old male child who was admitted to our hospital with a poor postnatal reaction and poor milk intake. The baby's crying and sucking is weak, reaction and feeding time is poor and the baby has nausea and vomiting. Karyotype analysis showed that the chromosomes were 46, XY, deletion (5) p15. Whole genome microarray analysis (named ISCN2013) showed that the chromosomes of the child were male karyotypes and contained three chromosomal abnormalities. Among them, loss of 5p15.2pter (113576-13464559) was associated with cat call syndrome. After 3 mo of follow-up, the child still vomited repeatedly, had poor milk intake, did not return to normal growth, had developmental retardation and a poor directional response. CONCLUSION: Therefore, when cat crying and laryngeal sounds occur in the neonatal period, it should be considered that they are related to CdCS. Chromosome karyotype and genome analysis are helpful for the diagnosis of CdCS.

Treatment of gastric carcinoma with lymphoid stroma by immunotherapy: A case report.

BACKGROUND: Gastric cancer with lymphoid stroma (GCLS) is a rare type of gastric cancer characterized by abundant lymphocytic infiltration of the stroma. It is an Epstein-Barr virus-associated gastric cancer with a better prognosis than typical gastric cancer but with similar symptoms. GCLS diagnosis is based on pathological, histological and immunohistochemical examination and there are no standardized guidelines for treatment. CASE SUMMARY: This case report describes a 72-year-old man with a 6-mo history of abdominal pain. Endoscopy revealed ulcerative lesions in the stomach and gastric cancer was suspected. A preoperative endoscopic biopsy indicated undifferentiated carcinoma and postoperative pathological, histological and immunohistochemical analyses of the resected specimen confirmed a final diagnosis of GCLS. CONCLUSION: The patient showed high programmed cell death-ligand 1 expression and recovered well after immunotherapy.

Observation on the Clinical Effect of Apatinib Combined with Chemotherapy in the Treatment of Advanced Non-Small Cell Lung Cancer.

OBJECTIVES: To evaluate the clinical effect of apatinib combined with chemotherapy in the treatment of advanced non-small cell lung cancer (NSCLC). METHODS: Eighty patients with advanced NSCLC treated in Hebei General Hospital from January 2017 to July 2020 were randomly divided into two groups: the experimental group and the control group, each with 40 cases. Patients in the control group were treated with conventional paclitaxel combined with cisplatin chemotherapy, while patients in the experimental group were treated with apatinib mesylate tablets based on the treatment of the control group. After treatment, tumor efficacy evaluation was conducted on all patients every two cycles, and the therapeutic effect, adverse drug reactions, improvement of quality-of-life scores prior to and after treatment, and changes of indicators such as tumor markers carcinoembryonic antigen (CEA) and carbohydrate antigen 153(CA153) were compared and analyzed between the two groups. RESULTS: The total effective rate of the experimental group was 67.5%, which was significantly better than the 45% of the control group (p=0.04); The incidence of adverse drug reactions in the experimental group was 25%, while that in the control group was 37.5%, with no significant difference (p=0.23); Moreover, the improvement rate of quality of life scores in the experimental group was significantly higher than that in the control group (p=0.03), and the levels of CEA and CA153 in the experimental group were significantly lower after treatment than those in the control group, with a statistically significant difference (p=0.01). CONCLUSION: Apatinib combined with conventional chemotherapy is effective in the treatment of advanced non-small cell lung cancer, the quality of life can be significantly improved, tumor markers can be significantly reduced, and adverse reactions will not be significantly increased.

[Effects of total sleep deprivation on attention network conflict and sample entropy analysis of EEG].

Objective: To explore the effects of total sleep deprivation (TSD) on brain attention network and to analyze the effects of sleep deprivation on individual selective attention network conflict effect and electroencephalograph (EEG) sample entropy. Methods: Twenty-five healthy subjects participated in the test from 9: 00am that day to 9: 00pm next day. The subjects completed the attention network task (ANT) before and after TSD, and synchronously recorded the EEG signals. Sample entropy algorithm was used to analyze the changes of EEG complexity in delta, theta, alpha, beta and gamma frequency bands before and after TSD. Results: Compared with before TSD, the reaction time of attention network conflict effect was significantly decreased after TSD (P＜0. 01), and rate was increased significantly (P＜0. 01). Sample entropy analysis of EEG showed that in beta frequency bands, the sample entropy related to attention network conflict control was increased significantly after TSD (P＜0. 01). No significant difference was found in other EEG frequency bands. Conclusion: TSD reduces the effect of brain attention network conflict, reflecting the decline of conflict control ability after 36 h TSD.

[Effect of the Rainfall on Extinction of Cyanobacteria Bloom and Its Mechanism Analysis].

There were three rainfall events with different intensity in the Xiangxi Bay (XXB) from May 24 to June 2 in 2016. The factors such as hydrodynamics, water temperature, optical properties, and chlorophyll a concentrations during the rainfall events were analyzed. During the May 27 moderate rain period, the upstream flow of the reservoir bay increased by 1.9 times and the average mixing layer depth in the whole reservoir increased 8.2 m, compared to those before the rainfall event. During the June 1 light rain period, the average mixing layer depth in the whole reservoir increased 1.6 m and the average chlorophyll concentration reduced 2.02 µg·L-1, compared with those before the rainfall event. During the June 2 heavy rain period, the upstream flow of the reservoir bay increased by 4 times, the average mixing layer depth in the whole reservoir increased 7.9 m and the average chlorophyll concentration reduced 14.64 µg·L-1, compared with those before the rainfall event. The algae moved from the upstream to the downstream with water that reduced the concentration of algae in the XXB. The water temperature stratification weakened during the rain event and the average mixing layer depth in the whole reservoir increased, destroying the algal growth environment. After the rainfall, under suitable light and temperature conditions for 2-3 d, the water temperature stratification of the reservoir was recovered and rapid growth and reproduction of algae occurred. As a result, the chlorophyll concentrations in the reservoir increased. Rainfall has a periodic inhibitory effect on the outbreak of algal blooms; however, it cannot fundamentally solve the problem of tribal bay blooms.

[Nutrient Distribution Characteristics of the Sediment-water System in the Xiangxi River During the Impoundment of TGR].

This study characterizes the nutrient distribution of the sediment-water system in the Xiangxi River (XXR) during the impoundment of the Three Gorges Reservoir (TGR). In 2016, the research group obtained samples in the Xiangxi River, analyzed the distribution of nitrogen, phosphorus, and O.M. (organic matter) in the sediment-water system, explored the characteristics of "source-sink" between the interstitial water and overlying water, and carried out a cluster analysis for the sampling sites. The results showed that ρ(TN) in the sediments was higher than in the estuary, and the ρ(TN) was close to that in the middle and downstream samples of the river. The ρ(TP) in the upstream sample was the highest of all sites, ρ(O.M.) presented low distribution characteristics in the downstream, and the maximum value of ρ(O.M.) exceeded the critical point (1.5%) within a depth of 10 cm, and there was a certain risk of release. For the distribution in the overlying water, ρ(DTN) and ρ(DTP) were the largest in the estuary, ρ(DTN) decreased from the estuary to the upstream, and ρ(DTP) did not change along the river. During the study, DTN, NH4+-N, and DTP in all sites (except CJ point) were released as nutrients to the overlaying water as the "source," but some points for NO3--N and PO43--P presented as "sources," and some of them presented as "sinks." The "source-sink" process of nitrogen was stronger than that of phosphorus. This was due to the difference between the oxidation environment at the bottom of the XXR and the stream flow backward depth of the Xiangxi bay during impoundment. Based on the results of a cluster analysis, the characteristics of CJ, 1, and 2 indicated similar sediment-water systems, while the characteristics of 3 and 4 were similar.

Aberrant CpG Island Shore Region Methylation of CAV1 Is Associated with Tumor Progression and Poor Prognosis in Gastric Cardia Adenocarcinoma.

BACKGROUND AND AIMS: Caveolin-1 (CAV1) is a multifunctional scaffolding protein and plays an important role in tumorigenesis. However, the epigenetic changes of CAV1 in gastric cardia adenocarcinoma (GCA) have not been investigated so far. The purpose of this study was to clarify the contribution of critical CpG sites in CAV1 to progression/prognosis of GCA and to further elucidate the effect of critical CpG sites on the ectopic expression of ß-catenin in GCA. METHODS: Methylation-specific polymerase chain reaction (MSP) and bisulfite genomic sequencing (BGS) methods were, respectively, applied to examine the methylation status of CAV1. RT-PCR and immunohistochemistry methods were used to determine the mRNA and protein expression of CAV1 and ß-catenin. RESULTS: Decreased mRNA and protein expression of CAV1 were observed in GCA tumor tissues and were associated with hypermethylation of CpG island shore and transcription start site (TSS) regions in CAV1. Hypermethylation of the other two regions within CpG islands in CAV1 was observed both in tumor and corresponding adjacent tissues but was not related to the transcriptional inhibition of CAV1. The methylation status of CpG island shore region in CAV1 was associated with the ectopic expression of ß-catenin and was independently associated with survival in GCA patients. CONCLUSIONS: Hypermethylation of CpG island shore and TSS regions is cancer specific and is closely associated with reduced expression of CAV1. The CpG island shore methylation of CAV1 may play an important role in progression of GCA and may serve as a prognostic methylation biomarker for GCA patients.

[Temporal and Spatial Distribution of Environmental Factors and Phytoplankton During Algal Bloom Season in Pengxi River, Three Gorges Reservoir].

Planktonic algae and Related Environmental Factors were monitored during the period of algal blooms season in 2014 (Spring April 17 and summer 27 July) in Pengxi river, Three Gorges Reservoir. Mathematical statistical tools were used to analyze the community structure of planktonic algae in Pengxi River with its environmental factors. The results of sampling in spring showed that except the estuary site, S1 and the site close by, S2, the waters stratified, but without epilimnion, only had metalimnion and hypolimnion; the upstream sites had larger temperature difference between water layers than did the downstream ones; from all the 8 sampling sites from estuary to upstream, water depth, and the temperature, pH, conductivity, dissolved oxygen, chlorophyll a, TN and TP of the surface layer (0-0.5 m deep) were significantly different (ANOVA, P < 0.05). 25 species (genus) of planktonic algae were identified. The abundance of species ranged from 2.76 x 104 cell · L⁻¹ to 145.8 x 104 cell · L⁻¹. Ceratium hirundinella was the main dominant species, and Anabaena sp. was the sub-dominant species. Algal bloom in upstream sampling sites S7 (63.4 x 104cell · L⁻¹) and S8 (145.8 x 104cell · L⁻¹)were relatively serious in spring. Temperature of water, pH , conductivity, dissolved oxygen and NO3⁻ were the key regulatory factors for phytoplankton abundance based on redundancy analysis ( RDA). The results of sampling in summer showed similar stratification trends among sites; the depth of the same 8 sampling sites, and their surface layer's temperature of water, turbidity, redox potential, pH, water depth, conductivity, chlorophyll a, NH4⁺, NO3⁻, total nitrogen and total phosphorus were significantly different (ANOVA, P < 0.05). 46 species (genus) of phytoplanktonic algae were identified. The abundance ranged from 9.56 x 104 cell · L⁻¹ to 278.88 x 104 cell · L⁻¹. Phormidium sp. was the main dominant species, and Anabaena sp. was the sub- dominant algae. Algal bloom at the lower part of the river, S2 (216.44 x 104 cell · L⁻¹), S3 (278.88 x 104 cell · L⁻¹) and S4 (108.12 x 104 cell · L⁻¹) were relatively serious in summer. Turbidity, depth of water, TN, oxidation-reduction potential, conductivity and dissolved oxygen were the key regulatory factors for phytoplankton abundance based on RDA. Stratification had important effect on algal bloom formation.

Elevated Plasma P-Selectin Autoantibodies in Primary Sjögren Syndrome Patients with Thrombocytopenia.

BACKGROUND Primary Sjögren's syndrome (pSS) is one of the most common chronic systemic autoimmune diseases, and thrombocytopenia is one of the hematological manifestations of pSS. When platelet and endothelial cells are activated, P-selectin is expressed on the cell surface. This study aimed to investigate the role of P-selectin autoantibodies in the pathogenesis of thrombocytopenia in pSS. MATERIAL AND METHODS P-selectin autoantibodies were measured by enzyme-linked immunosorbent assay (ELISA) in 38 pSS patients without thrombocytopenia and 32 pSS patients with thrombocytopenia, 32 idiopathic thrombocytopenic purpura (ITP) patients, and 35 healthy controls. RESULTS The plasma P-selectin autoantibodies (A490) in ITP patients and pSS patients with/without thrombocytopenia were significantly higher than those in healthy controls, but there were no significant differences between ITP patients and pSS patients with thrombocytopenia. The positive rate of P-selectin autoantibodies in pSS patients with thrombocytopenia was significantly higher than that in ITP patients. The platelet count was lower in P-selectin autoantibodies-positive patients, while among pSS patients with thrombocytopenia, the platelet count was lower in P-selectin autoantibodies-positive patients than in P-selectin autoantibodies-negative patients. In ITP patients and pSS patients with thrombocytopenia, the platelet count was lower in P-selectin autoantibodies-positive patients. CONCLUSIONS Elevated plasma P-selectin autoantibodies may play a role in the pathogenesis of thrombocytopenia in pSS patients.

Expression of caveolin-1 is correlated with lung adenocarcinoma proliferation, migration, and invasion.

Both tumor suppressor and tumor promoter roles, which are dependent on the tumor type, have been described for caveolin-1 (CAV-1). Because CAV-1 can modulate cell signaling, we tested the hypothesis that it regulates lung adenocarcinoma cell proliferation and metastasis via modulation of epidermal growth factor receptor (EGFR) activity. The lung adenocarcinoma cell line, GLC-82, was transfected with pcDNA3.1CAV-1 plasmid, before cell proliferation, migration, and invasion were analyzed. In the in vivo xenograft model, the relationship between the CAV-1 expression and EGFR phosphorylation and signaling was assessed by western blot analysis. The relationship between the CAV-1 as well as Ki67 expression and the clinicopathological characteristics of 68 lung adenocarcinoma patients was also examined using immunohistochemistry. Overexpression of CAV-1 significantly increased GLC-82 proliferation (p < 0.001), migration (p < 0.001), and invasion (p = 0.002) as well as EGFR and ERK phosphorylation (p < 0.05). The GLC-82/CAV-1 cell tumors were also significantly larger than those of control cells (all p ≤ 0.05). In lung adenocarcinoma patients, CAV-1 expression was positively correlated with lymph node metastasis and cancer stage. Finally, CAV-1 expression was associated with the expression of Ki-67, a marker of cell proliferation. CAV-1 enhanced GLC-82 cell proliferation, migration, and invasion possibly through EGFR and ERK signaling. Furthermore, the relationship of CAV-1 with Ki67 expression, a marker of proliferative capacity, in lung adenocarcinoma samples is suggestive of its role in disease progression. Further studies are required to confirm the role of CAV-1 in the metastasis of lung adenocarcinoma as well as its potential prognostic and therapeutic value.

[Characteristics of nutrient loss by runoff in sloping arable land of yellow-brown under different rainfall intensities].

In order to investigate the loss characteristics of N and P through surface flow and interflow under different rainfall intensities, a field experiment was conducted on the sloping arable land covered by typical yellow-brown soils inXiangxi River watershed by artificial rainfall. The results showed that the discharge of surface flow, total runoff and sediment increased with the increase of rain intensity, while the interflow was negatively correlated with rain intensity under the same total rainfall. TN, DN and DP were all flushed at the very beginning in surface flow underdifferent rainfall intensities; TP fluctuated and kept consistent in surface flow without obvious downtrend. While TN, DN and DP in interflow kept relatively stable in the whole runoff process, TP was high at the early stage, then rapidly decreased with time and kept steady finally. P was directly influenced by rainfall intensity, its concentration in the runoff increased with the increase of the rainfall intensity, the average concentration of N and P both exceeded the threshold of eutrophication of freshwater. The higher the amount of P loss was, the higher the rain intensity. The change of N loss was the opposite. The contribution rate of TN loss carried by surface flow increased from 36.5% to 57.6% with the increase of rainfall intensity, but surface flow was the primary form of P loss which contributed above 90.0%. Thus, it is crucial to control interflow in order to reduce N loss. In addition, measures should be taken to effectively manage soil erosion to mitigate P loss. The proportion of dissolved nitrogen in surface flow elevated with the decrease of rainfall intensity, but in interflow, dissolved form was predominant. P was exported mainly in the form of particulate under different rainfall intensities and runoff conditions.

[Phosphorus output characteristics under different rainfall-runoffs in Gaolan River].

Through capturing the dynamics of water quantity and quality during varied intensities of rainfall, the variation characteristics of different forms of phosphorus and flux during the producing of runoff were studied systematically in Gaolan River watershed (a secondary tributary of Three Gorges Reservoir). Meanwhile, the phosphoric loadings from point and non-point sour,-were identified, respectively. The results show that: the variation of rainfall-runoff under " squat" rain was relatively slow, while un,c "pointed thin" rain it presented quickly both during rising and recession. Total phosphorus concentration increased quickly because soil carried particulate phosphorus into water under the heavy rainfall, while the relative variations of dissolved total phosphorus and orthophosphate concentration were slightly elevated. Compared with "squat" rain, the maximum value of total phosphorus concentration and flux were both higher in "pointed thin" rain, which led to the more heavily soil erosion. The dynamics of flux and concentratiorn of phosphorus were generally consistent with that of the flow rate between the two different types of rain. Phosphorus from non-point source accounts for 90% during the whole heavy rain. Because of the long lasted time during " squat" rain, the contribution of the "squat" rain outweighs the "pointed thin" rain.

[Generation of human Fab antibody against platelet membrane glycoprotein IIb/IIIa and its effect on platelet aggregation].

AIM: To generation of human Fab fragment against GP GPIIb/IIIa from phage display library and to study its effect on platelet aggregation. METHODS: An antibody phage display library was constructed from spleen cells from a donor with idiopathic thrombocytopenic purpura(ITP) whose anti-GPIIb/IIIa antibody was positive. High-affinity human mAbs was selected by panning against GPIIb/IIIa expressed on CHO123 cells. The binding specificity of phage antibody to GPIIb/IIIa was detected by ELISA and Western blot. And the effect of antibody on platelet aggregation was analyzed. RESULTS: After three rounds of panning with CHO123, phage antibodies against GPIIb/IIIa were enriched specifically. 2 positive phage antibodies with high specific for GP IIb/IIIa were verified, and the purified antibody can inhibited ADP induced platelet aggregation. CONCLUSION: Human antibodies against GPIIb/IIIa are obtained from phage display library.