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Clinical phenotype and gene characteristics of a patient diagnosed with Imerslund-Gr?sbeck syndrome (IGS) in Department of Neurology, Children′s Hospital of Soochow University in December 2018 were analyzed retrospectively, and literature review was conducted.The 16 years and 5 months old boy was admitted to the hospital with symptoms of weakness of lower limbs for 2 weeks.He had a history of megaloblastic anemia and isolated proteinuria.Genetic metabolism of hematuria showed methylmalonic academia.Genetic analysis revealed a compound heterozygous AMN gene mutation[c.742C>T(p.Q248 *) and c. 761G>A(p.G254E)]. These two mutations were derived from his parents respectively, which had been reported before.Symptoms of the patient improved after intramuscular administration of hydroxycobalamin and oral betaine.Review of the literature indicated that the clinical manifestations of AMN gene-related IGS were mostly megaloblastic anemia and isolated proteinuria, and the older children might suffer from neurological symptoms such as movement disorders, dementia, delirium or psychosis.The clinical phenotype of this disease was variable, which might easily lead to misdiagnosis.The patient presented with a special phenotype of mild reversible peripheral neuropathy, which expanded the clinical phenotype of pathogenic genes of AMN gene.In addition, peripheral neuropathy caused by vitamin B 12 metabolic disorders is reversible, and it is suggested to measure vitamin B 12, test related genes and treatment with vitamin B 12 in peripheral neuropathy of unknown etiology.
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Objective:To investigate the features, diagnostic value and clinical significance of prenatal ultrasound for umbilical cord ulcer (UCU).Methods:Ultrasonographic characteristics of three fetuses with UCU diagnosed at Guangzhou Women and Children's Medical Center from January 2014 to June 2020 were reviewed. Relevant articles published from January 1, 1990, to June 1, 2020, were retrieved from Wanfang, CNKI and PubMed databases and analyzed. Likelihood ratio, adjusted Chi-square test and Fisher's exact test were used to analyze the association between the pathological results and fetal outcomes. Results:(1) Among the three fetuses with UCU, two were complicated by upper gastrointestinal obstruction and one by intrauterine infection. Two of them survived and one died after birth. Prenatal ultrasound examination of the umbilical cord and amniotic cavity showed one case was normal, while the other two showing features such as flocculent hypoechoic sign around the umbilical cord, cloudy hyperechoic sign ejecting from the umbilical cord lesion in dynamic observation, exposed umbilical vessels and ribbon-like echo around the umbilical cord. (2) No reported case of UCU had been found in any publications in China. A total of 39 reported cases of UCU complicated by duodenal or jejunal obstruction were retrieved from English literature, among which intrauterine fetal death, neonatal death and live births accounted for 30.8% (12/39), 28.2% (11/39) and 41.0% (16/39), respectively. Six cases with intrauterine abnormalities detected by prenatal ultrasound survived after emergent cesarean section, showing a positive detection rate of 15.4% (6/39), of which three obtained a snapshot of umbilical cord bleeding and three were characterized by lamellar and linear echoes around the amniotic cavity or umbilical cord. Hemorrhagic amniotic fluid was observed in 66.7% (26/39) of the fetuses and decreased heart rate occurred in 35.9%(14/39). The site, number and pathological grade of UCU were not related to the pregnancy outcomes (all P>0.05). Conclusions:Prenatal ultrasound for detecting abnormalities in umbilical cord and amniotic cavity is of a certain value in the diagnosis of UCU. Lamellar and linear echoes around the umbilical cord may be the ultrasonographic characteristics of UCU. The real-time detection of UCU bleeding by prenatal ultrasound can provide direct evidence for timely clinical treatment.
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Objective To explore a new method for lacrimal passage irrigation after laser dacryocystoplasty surgery. Method One-hundred patients (104 eyes), which underwent laser dacryocystoplasty surgery combined with lacrimal drainage tube indwelling, were divided into two groups. In Group A (50 patients, 52 eyes), lacrimal passage irrigation was performed by traditional No.5 needle. While in Group B (50 patients, 52 eyes), it was done by No.7 blunt round needle designed by the researchers. Lacrimal passage irrigation was performed three times, each at the 3rd day, 1 week and 1 month after surgery. The silicone tube was removed 3 months after surgery and the treatment was evaluated. Results The total effective rate was 64% (32/50) in Group A and 92%(46/50) in Group B. The difference was statistically significant (χ2=18.537, P < 0.01). Conclusions The No.7 blunt round needle showed better effect when used for lacrimal passage irrigation after laser dacryocystoplasty surgery. It could improve the efficiency of lacrimal passage irrigation, thus decreasing irrigation times and reducing psychological pressure for the patients, which is worthy of clinical application.
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Objective To explore the risk factors for childhood death from pneumococcal meningitis.Methods The data of 32 hospitalized children were retrospectively analyzed,who were diagnosed as pneumococcal meningitis and enrolled in the Affiliated Children′s Hospital of Soochow University from November 201 0 to December 201 5.The subjects were divided into the death group and survival group according to their prognosis.The clinical characteristics and laboratory data were compared between 2 groups.Results Between the death group and survival group,there were significant statistically differences in shock within 24 hours after admission(63.6% vs 1 4.3%,P =0.01 3),as well as endotracheal tube intubation(1 00.0% vs 23.8%,P <0.001 ),the levels of cerebrospinal fluid(CSF)IgG[(491 .27 ± 203.53)mg/L vs (267.24 ±1 88.07)mg/L,P =0.006],IgM[(1 1 5.72 ±79.1 9)mg/L vs (32.80 ±28.52)mg/L, P =0.006],IgA[59.52(1 5.51 ,75.69)mg/L vs 1 8.77(9.33,27.54)mg/L,P =0.023],CSF leukocyte[330.00 (1 50.00,380.00)×1 06 /L vs 870.00 (403.00,6 1 60.00)×1 06 /L,P =0.009 ],CSF protein [(4 047.00 ± 1 942.1 6)mg/L vs (2 470.62 ±1 259.94)mg/L,P =0.009],CSF adenosine deaminase (ADA)[35.20(1 8.90, 87.20)U /L vs 8.80(3.05,23.78)U /L,P =0.001 ],serum sodium[(1 30.21 ±2.85)mmol/L vs (1 32.83 ±3.69) mmol/L,P =0.049],serum lactic acid (LA)[4.40 (2.60,5.70)mmol/L vs 2.40 (1 .75,4.50)mmol/L,P =0.01 3],serum C -reactive protein (CRP)[(95.87 ±65.40)mg/L vs (1 65.61 ±83.05)mg/L,P =0.022],serum lactate dehydrogenase (LDH)[81 3.40(465.20,2 31 0.70)U /L vs 359.20(257.85,405.90)U /L,P =0.001 ], platelet[(1 63.82 ±1 64.86)×1 09 /L vs (295.71 ±1 30.29)×1 09 /L,P =0.01 9]and positive rate of blood culture (90.9% vs 47.6%,P =0.023)between the death group and survival group.Conclusions The risk factors associated with mortality in pediatric SPM include shock within 24 hours after admission,endotracheal intubation,hyponatremia, thrombocytopenia,as well as high serum LA level,high serum LDH level,lower serum CRP level or cultures of blood and CSF double positive.
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Objective To explore a promising system for tumor CD 44 receptor-targeted imaging and to investigate their physic-chemical properties and targeting effect on CD 44 abundant cancer cells in vitro.Methods The superparamagnetic iron oxide ( SPIO) nanoparticles were prepared by a coprecipitation in alkaline media starting from a mixed of the ferrous and ferric solution.And then the surface of the SPIO nanoparticles were modified with APTMS by a reaction with the hydroxyl groups.Finally, the hyaluronan-modified SPIO ( SPIO-HA) nanoparticles were prepared.Control and experimental groups were established after adding SPIO or SPIO-HA as agents respectively.Transmission electron microscopy ( TEM) and particle size analyzer were used to measure these nanoparticle sizes and the hydrodynamic diameters.Thermogravimetric analysis ( TGA) was carried out to evaluate the HA-content on the surface of SPIO-HA.The MRI T2 ralaxivities (1/T2 ) of the two groups at different Fe concentrations (0.09, 0.18, 0.27, 0.36, 0.45 mmol/L ) were measured on a 3.0T MR system.HepG2 cells and HL7702 cells were used for assessment of cells viability by methyl thiazolyl tetrazolium ( MTT ) assay.Prussian blue staining , immunoassay fluorescence image and flow cytometry were carried out to determine the targeted cellular uptake of SPIO-HA nanoparticles.MRI were performed to show the MR T 2 value changes after incubating with HepG2 cancer cells by using T 2 WI sequences at a clinical 3.0 T MR system.One-way analysis of variance was performed to determine significant changes in MR T 2 values of blank control , SPIO-HA and SPIO groups.Results The SPIO-HA and SPIO NPs were fairly homogeneous with an average core size of 18.2 and 22.4 nm, hydrodynamic diameter of 91.1 and 103.2 nm, Zeta potential of (-45.00 ±0.86) mV and (-18.50 ±0.73) mV, and magnetic relaxivity of 0.212 ×106 M-1 · s-1 and 0.191 ×106 M-1 · s-1.Based on the TGA data , HA accounted for 24%weight of each SPIO-HA.The internalization of the SPIO-HA was confirmed by prussian blue staining , while the cells showed no obvious blue stains with SPIO , incubation of SPIO-HA with tumor cells led to blue color inside the cells.After that, we examined cancer cell binding of FITC-SPIO-HA by immunoassay fluorescence image and flow cytometry.The green fluorescence resulting from FITC-SPIO-HA was observed inside the cells in both the cytoplasm and the plasmalemma.Tumor cells treated with SPIO-HA exhibited higher fluorescence signals with 7.97-fold enhancement observed for HepG 2 cells over control particles.In vitro MR, mean T2 values of blank control , SPIO and SPIO-HA groups were ( 115.20 ±0.36 ), ( 115.07 ±0.81 ) and ( 21.67 ±0.21 ) ms, respectively.There was significant difference among those three groups (F=31 703.339,P<0.01), MR T2 values of HepG2 cells treated with the SPIO-HA NPs were lower than blank and SPIO group.In comparison, SPIO did not generate any MRI signal changes compared with blank group.Conclusion The tumor CD44 receptor-targeted MR molecular probe SPIO-HA had a good physic-chemical property and well targeted HepG2 cells.
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Objective To investigate the application value of color Doppler ultrasonography in the diagnosis and treatment of uterine scar pregnancy. Methods The sonographic characteristics of 34 patients of uterine scar pregnancy were analyzed. The changes of blood flow and the resistance index (RI) were compared before and after conservative treatment. Meanwhile, the therapeutic effect was evaluated referencing to the changes of β-hCG in blood. Results Uterine scar pregnancies were classfied into three subtypes according to ultrasonic characteristics: Type Ⅰ: embryo sac (n=16 cases);Type Ⅱ: asymmetrical mass (n=14);Type Ⅲ: mixed type (embryo sac+asymmetrical mass, n=4). Peri-myometrium of the gastrula and the mass had abundant blood flow and lower RI before treatment, while rare blood flow and middle RI were found 4 weeks after treatment. There was statistical significance in the change of RI between before and four weeks, after treatment. Conclusion Uterine scar pregnancy has characteristic ultrasonogram. Color Doppler ultrasound may precise diagnose and localize uterine scar pregnancy, playing an important role in guiding the conservative treatment schedule, evaluating the therapeutic effect and following-up of these patients.
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AIM: To investigate the multidrug resistance(MDR),reversal activity of 2-[4-(2-pyridin-2-yl-vinyl) henyl]-4,5-bis-(4-N,N-diethylaminophenyl)-1(H)-imidazole(FG020318) in a retinoblastoma subline SO-Rb50/VCR,which is resistant to vincristine.METHODS: The procedure of stepwise increase in drug concentrations was used to obtain SO-Rb50/VCR,which was resistant to 200 ?g/L vincristine. The chemosensitivity of this drug resistant cell line with and without FG020318 or cyclosporine A(CSA) were detected by MTT assay and the function of p-glycoprotein(P-gp) was examined by rhodamine 123 accumulation detected with flow cytometry(FCM).RESULTS: FG020318(2.5 ?mol/L) significantly reduced IC50 and increased the rhodamine accumulation in a concentration-dependent manner. It was much stronger than the positive control CSA in reversal of MDR.CONCLUSION: A new tumor MDR modulator FG020318 partly reverses MDR in SO-Rb50/VCR.It may be a promising new drug to tackling MDR.