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Fetal cystic lymphangioma is a developmental anomaly of the lymphatic system, which can occur in any part of the body, but most commonly in the neck and armpit. A case of fetal cystic lymphangioma located at the chest wall under the right armpit with a size of 21 mm×18 mm×16 mm is reported here. The mass was initially diagnosed by routine ultrasound examination at 21 gestational weeks. After the diagnosis, ultrasound was repeated every 4 weeks till 37 +4 gestational weeks. Over this period, the mass increased progressively to 101 mm×110 mm×95 mm. Ultrasound-guided intrauterine fetal cystic mass puncture and aspiration was performed 38 +4 weekss, and Bleomycin was injected into the cyst after operation and on day 42 after birth. During a follow-up to 10 months after birth, no obvious cystic mass was found at the right axillary chest wall of the child.
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OBJECTIVE@#To perform gene mutation analysis in a patient with atypical clinical manifestations of tuberous sclerosis (TSC) for definite diagnosis.@*METHODS@#Peripheral blood DNA was obtained from a patient with clinically suspected TSC and her parents, and all exons and their flanking sequences of @*RESULTS@#A heterozygous nonsense mutation c.1096G>T (p.E366*) was identified in the exon 11 of the @*CONCLUSIONS@#The somatic mosaic mutation c.1096G>T (p.e366*) may be responsible for the phenotype of TSC in this patient. And the drop digital PCR is expected to be a diagnostic method for somatic cells mosaicism.
Тема - темы
Female , Humans , Male , Mosaicism , Mutation , Tuberous Sclerosis/genetics , Tuberous Sclerosis Complex 2 Protein/genetics , Exome SequencingРеферат
Objective Rapamycin can improve characteristic pathology of AD by improving the level of autophagy.But, its internal mechanism still needs further study.This study was aimed to observe the protective effect of Rapamycin (RAPA) on the injury of rat pheochromocytoma (PC12) cells induced by β-amyloid protein25-35 (Aβ25-35).Methods PC12 cells in the logarithmic phase were randomly divided into 5 groups: control group(similar free-serum DMEM), model group, 10μmol/L RAPA treated group, 40μmol/L RAPA treated group and 160μmol/L RAPA treated group(add 10μmol/L, 40μmol/L RAPA, 160μmol/L respectively).Except the control group, each group was cultured with 20μmol/L Aβ25-35 to established the cell injury model.Results ①Compared with the survival rate of cells[(51.47±2.59)%] and the apoptosis rate of cells[(52.22±2.33)%] of the model group,the survival rate of cells in 10、40、160μmol/L RAPA treated groups and control group[(54.64±2.42)%, (64.79±2.91)% ,(56.50±2.55)% and (99.98±0.73)%] significantly increased, but the apoptosis rate of cells [(45.33±2.83)%, (36.89±2.85)%, (48.00±2.83)% and (3.33±2.45)%] significantly decreased(All P<0.05).②In model group,the expressions of p-PKB is 0.33±0.01, p-mTOR is 1.97±0.05, p-tau is 2.09±0.19.Compared with model group, in 10、40、160μmol/L RAPA treated groups and control group,these expressions of p-PKB (0.37±0.01, 0.42±0.01, 0.40±0.01 and 0.44±0.02) were significantly increased, however p-mTOR (1.64±0.05, 0.66±0.04, 0.35±0.01 and 0.62±0.01) and p-tau (2.02±0.15, 1.79±0.05, 1.86±0.06 and1.53±0.04) were decreased(All, P<0.05).ConclusionRAPA can increase Aβ25-35-induced PC12 cells viability, decrease cells apoptosis rates, and have a protective effect on Aβ25-35-induced PC12 cells death.The mechanism of its protective effect may be related to the inhibition of mTOR regulating PI3K/PKB/mTOR signal transduction pathway by negative feedback and the reduction of tau protein hyperphosphorylation.
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Objective Based on the diagnostic technique of electric meridian detection, to observe the clinical efficacy of acupuncture in treating angioneurotic headache.Method Totally 106 patients with angioneurotic headache were randomized into a treatment group and a control group, 53 cases in each group. The treatment group received acupuncture based on the electric meridian detection, while the control group received medication treatment. The hemorheology indexes [plasma viscosity (PV), erythrocyte sedimentation rate (ESR)] and McGill Pain Questionnaire (MPQ) [Pain Rating Index (PRI), Visual Analogue Scale (VAS), and Present Pain Intensity (PPI)] were observed before and after intervention, and the clinical efficacies were compared. Result The total effective rate was 88.7% in the treatment group versus 71.7% in the control group, and the between-group difference was statistically significant (P<0.05). After intervention, the hemorheology indexes and MPQ scores were significantly changed in both groups (P<0.01,P<0.05).Conclusion Acupuncture based on electric meridian detection is an effective method in treating angioneurotic headache.