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15q11-q13 Duplication syndrome is a rare genetic disease of the nervous system, characterized by developmental retardation, intellectual impairments, hypotonia, autism, epilepsy and so on. This article reports a 33-year-old male patient, with the clinical manifestation of early-onset intractable epilepsy and mental retardation. The high-throughout whole exome sequencing showed a 10.53 Mb repeat sequence in the 15q11.2-q13.3 region, further confirming the diagnosis of 15q11-q13 duplication syndrome. The literature reports of the pathogenic mechanism, classification, typical clinical manifestation, seizure features,accessory examination and therapy of the 15q11-q13 duplication syndrome are summarized and reviewed, so as to enhance the understanding of the disease, as well as to improve the diagnosis and treatment level of the clinicians.
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Nucleotide repeat expansion is one of the common causes for neurodegenerative disorders. Polyglycine diseases are a newly defined neuro- and muscle- degenerative disease spectrum characterized by CGG trinucleotide repeat expansions, generation and aggregation of aberrant polyglycine protein, and formation of intranuclear inclusions. To date, the aggregation of pathogenic polyglycine protein has been proved in fragile X-associated tremor/ataxia syndrome and neuronal intranuclear inclusion disease. In recent years, the case load of these diseases grows rapidly with the increasing awareness and developing genetic testing technologies. This article aims to systematically review the recent progress in polyglycine diseases, and probe into their pathogenic mechanisms as well as clinical concerns.
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Objective:To investigate the clinical application of placental growth factor (PLGF) combined with uterine artery pulsation index in predicting early-onset preeclampsia.Methods:From March 2018 to March 2019, 69 cases of early-onset preeclampsia in the Maternal and Child Health Hospital of Jiaxing were selected as observation group, including 37 cases in mild group and 32 cases in severe group.And 58 cases of normal pregnant women in our hospital from March 2018 to March 2019 were selected as control group.The changes of plasma PLGF and uterine artery index, the changes of plasma PLGF and uterine artery index in different degrees of illness, and the diagnostic sensitivity and specificity of PLGF combined with uterine artery index were compared between the two groups.Results:The level of plasma PLGF in the observation group was (1.29±0.25)μg/L, which was lower than that in the control group[(1.70±0.34)μg/L]( t=7.816, P<0.05). The PI (1.48±0.31), RI (0.83±0.12) and S/D(2.97±0.65) of the observation group were higher than those of the control group[(0.91±0.18), (0.58±0.09) and (1.71±0.53)]( t=12.357, 13.071, 11.823, all P<0.05). The level of PLGF in the severe group was (1.13±0.27)μg/L, which was lower than that in the mild group[(1.45±0.23)μg/L]( t=5.317, P<0.05). The PI(1.71±0.36), RI(0.97±0.14) and S/D(3.45±0.71) in the severe group were higher than those in the mild group[(1.16±0.24), (0.72±0.10) and (2.43±0.57)]( t=7.556, 8.618, 6.616, all P<0.05). The diagnostic sensitivity and specificity of PLGF combined with uterine pulsation index were higher than those of PLGF and uterine pulsation index alone. Conclusion:PLGF combined with uterine pulsation index can predict the condition of early-onset preeclampsia, and the combination can improve the sensitivity and specificity.
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Mechanistic target of rapamycin (mTOR) pathway has been associated to various neurological diseases,including epilepsy.As a newly discovered mTOR pathway disease,DEPDC5 (dishevelled,Egl-10,and pleckstrin domain-containing protein 5) gene related epilepsy covers a range of clinical phenotypes.Mutations of DEPDC5 gene have been detected in genetic focal epilepsies,focal cortical dysplasia type Ⅱ,and sporadic focal epilepsy cases.It has been reported that hyperactivation of mTOR signaling due to the loss of function of DEPDC5 contributes to epileptogenesis,however more detailed mechanisms remain to be elucidated.DEPDC5 gene-related epilepsy together with other neurodevelopmental diseases characterized by hyperactivation of mTOR signaling has formed a disease spectrum named mTORopathies.
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OBJECTIVE@#To explore the genetic basis for a patient with syndromic hearing loss.@*METHODS@#Genomic DNA of the patient was extracted, for which 127 deafness-related genes were enriched with a chip. Following next generation sequencing, pathogenic loci in exonic regions were analyzed through comparison against the databases. Genotype of her fetus for the suspected site was determined by testing the amniotic fluid sample. qPCR method was applied to verify the deletion of a large fragment.@*RESULTS@#The proband was diagnosed with Waardenburg syndrome type 2, and had harbored a novel heterozygous deletion of the exons 3 and 4 of the SOX10 gene. Her fetus was found to carry the same deletion and presented with blue eyes and deafness after birth.@*CONCLUSION@#Waardenburg syndrome type 2 due to SOX10 gene deletion may feature autosomal dominant inheritance with incomplete penetrance. The deletion of exons 3 and 4 of the SOX10 gene probably underlies the disease in this family.
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Femenino , Humanos , Embarazo , Color del Ojo , Pérdida Auditiva , Mutación , Linaje , Diagnóstico Prenatal , Factores de Transcripción SOXE , Genética , Síndrome de WaardenburgRESUMEN
Objective To explore the clinical comparative value of little abdominal incision and laparoscopic treatment of large ovarian cysts.Methods A total of 31 consecutive cases of large ovarian cysts were analyzed.Two groups were made with the random number table method.Eighteen women with little abdominal incision were served as study group.The corresponding nineteen women with laparoscopic treatment were treated as control group.All the people were treated with placket suctionand helicism suture.The operation time,amount of bleeding,hospitali-zation time,cost of hospitalization and postoperative complications of the two groups were compared,and the levels of C -reactive protein and leukocyte count were also compared.Results The operation time,amount of bleeding,hospi-talization time and cost of hospitalization in the study group were (52.17 ±3.02)min,(30.09 ±1.91)mL,(5.75 ± 0.98)d and (5 272.85 ±355.21)yuan respectively,which in the control group were (72.40 ±4.45)min,(29.71 ± 0.56)mL,(5.15 ±0.31 )d and (11 825.59 ±857.71 )yuan respectively;There were no statistically significant differences in amount of bleeding and hospitalization time between the two groups(t =1.57,1.19,all P >0.05),but the operation time in the study group was less than that in the control group(t =4.51,P <0.05),and the same result of the cost of hospitalization was detected in the two groups(t =5.24,P <0.05).Conclusion In the basis of placket suctionand helicism suture,little abdominal incision surgery method is worthy of the clinical promotion with shorter operation time,more rapidly postoperative recovery and less hospitalization expense.
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AIM:To investigate the pooled association between estrogen receptor α( ESRα) rs2234693 poly-morphism and prostate cancer risk .METHODS:A systematic literature search was performed to identify the related stud-ies (up to April 2014) in several online databases including PubMed , the CNKI and Wanfang online libraries .Odds ratios with 95%confidence intervals were used to calculate the strength of association in the random effect model .RESULTS:A total of 20 studies including 4 623 cases and 9 850 controls were enrolled in the final meta-analysis.The results indicated that ESRαrs2234693 polymorphism was significantly associated with prostate cancer risk (P0.05 ) .CONCLUSION:This meta-analysis suggests that ESRαrs2234693 polymorphism is significantly associated with prostate cancer risk , espe-cially in Caucasians .
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To explore the feasibility and effects of Cook balloon cervical dilator on full-term nulliparous parturients under epidural analgesia.The observation group (n =40) received Cook balloon cervical dilation under epidural analgesia.However, the control group (n =40) had no epidural analgesia.Latent phase of labor was shorter in observation group than that in control group [(198.7 ± 65.7) vs.(242.9 ± 78.9) min, P ＜0.05].And the incidence of cesarean section and perineal laceration was lower under epidural analgesia(8％ vs.15％, 45％ vs.50％ respectively).There were no effects on success rate of induced labor in neither group.Cook balloon could shorten latent phase of labor, relieve the pain of parturients and increase no infection rate [leukocyte count : (8.82 ± 2.74) × 109/L vs.(9.10 ± 3.06) × 109/L, C-reactive protein: (4.73 ±0.87) mg/L vs.(4.82 ±0.90) mg/L respectively].It is worth wider clinical popularization.
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Objective To compare the efficacy of double balloon catheter and dinoprostone suppositories on maturing cervix and parturifacient action. Methods A total of 382 full-term nulliparous women (200) cases in double balloon group and 182 cases in dinoprostone suppositories medicine group) with labour induction indications and unfavourable cervices (Bishop score≤5scores) were collected for retrospective analysis. The promoting effects of the two methods on cervical ripening, 24-hour vaginal delivery rates and inductiondelivery intervals were compared. Results There was no difference in ceasarean delivery rates between two groups (25.5% vs 24.2%, P=0.67). Dinoprostone suppositories was more effective in promoting cervical ripening (2.68±0.87 vs 2.44±0.74, P<0.01). The induction-to-delivery interval was longer in the double balloon group (19.86±12.96)h than that in the medicine group(17.13±2.56)h (P<0.01). Conclusion Labour induction in nullipara with unfavourable cervices improve delivery rates. Dinoprostone suppositories is better than double balloon in promoting cervical ripening.
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Objective To determine the efficacy of the double balloon catheter in ripening and dilatation of the unfavorable cervix for induction of labor .Methods A total of 332 full-term women who were underwent induction of labor with the double balloon devices were collected for retrospective analysis .Cervix was assessed before the double balloon insertion and after it was removed 12 hours later, then amniotomy alone or combined with oxytocin was performed .Cord blood gases were analyzed .Results The double balloon catheter increased Bishop score in all subgroups with a mean improvement of 2.5 ±0.7 ( P <0.05 ) .The mean insertion-deliv-ery interval was (19.07 ±4.31)h.Cesarean section was performed in 80/332 (24.1%) patients.Cord arterial pH value was 7.3 ± 0.1 .Conclusions The double balloon catheter induced significant ripening and dilatation of the unfavorable cervix .It was effective and safe.
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Objective To study influence on angiogenesis of placenta by gene silencing of netrin-1.Methods Netrin-1 gene in human umbilical vein endothelial cells(HUVEC)and placenta of pregnant rats were silenced by RNA interference.The following methods were used in this study,including the phenytetrazoliumromide(MTT)for viability,clone formation for proliferation,transwell for migration,and tube formation for angiogenesis in vitro.The change of fetal growth was recorded.Placental microvessel density in pregnant rats was measured by immunohistochemical CD34 staining in vivo.Results (1)HUVEC:viability and proliferation of HUVEC were remarkably inhibited by gene silencing of netrin-1.which number of clone formation,migration cell,tube formation were from(69±6)%,86±17,37±9 decreased to(46±5)%,46±13 and 17±5(P＜0.05)respectively.(2)Placenta of pregnant rats:after netrin-1gene silenced,fetal weight were decreased from(2.39 ±0.17)g to(2.12±0.10)g(P＜0.05).Placental microvessel density was decreased from(258±38)/mm2 to(197±32)/mm2 in vivo(P＜0.05).Conclusions Gene silencing of netrin-1 could inhibit viability,proliferation,migration,tubal formation of HUVEC and angiogcnesis of placenta.Netrin-1 plays an important role in regulating angiogenesis in placenta.
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This study evaluated the efficacy and safety of "J"-shaped uterine incision for caesarean section for patients diagnosed with placenta previa. A total of 55 consecutive cases of placenta previa treated in Union Hospital were retrospectively analyzed over a period of two years and 10 months. The subjects were divided into two groups with respect to the uterine incision. Twenty-four pregnant women with placenta previa who were indicated for caesarean section underwent the procedure using a new "J"-shaped uterine incision and 31 pregnant women with placenta previa received caesarean section that used the traditional transverse incision. The two groups were compared in terms of operation time, estimated blood loss, infant expulsion time, exhaust time and postoperative recovery. Meanwhile, comparison was also made in neonatal clinical data between the two groups. Compared with the "J"-shaped incision group, the traditional incision group had a lower Apgar scores (P0.05). It is concluded that, with caesarean section for placenta previa patients, the "J"-shaped uterine incision significantly decreases intraoperative blood loss and facilitates the fetal delivery.
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The underlying effect of different concentrations of neogenin on proliferation, apoptosis and the related proliferative factors in human trophoblasts was explored in order to understand the function of neogenin during placentation. TEV-1 cell line was cultured and the expression of netrin-1 was detected by using indirect cellular immunofluorescence. Exponentially growing TEV-1 cells were treated by different concentrations of neogenin (0, 1, 5, 10, 50 ng/mL) for 24 h. Cell viability was measured by 3-(4,5-dimethyl-2-thiazolyl)-2,5-diphenyl-2H-tetrazolium bromide (MTT) assay. TEV-1 cell apoptosis was assessed by flow cytometry (FCM). The expression of netrin-1 mRNA and protein in TEV-1 cells was examined by using real-time PCR and Western blot, respectively. It was found that immunoreactivity for netrin-1 was observed in cytoplasm of the trophoblasts. Immediately after treatment with different concentrations of neogenin for 24 h, the netrin-1 expression began to increase. Real-time PCR revealed that the expression level of netrin-1 mRNA was 37.59+/-10.25 times higher than control group when TEV-1 cells were exposed to 50 ng/mL neogenin (P<0.01), and the same tendency was seen by using Western blot. MTT results showed that proliferation of TEV-1 cells was independent of neogenin. Meanwhile, apoptosis was significantly increased to (22.15+/-6.15)% at 50 ng/mL neogenin and (6.55+/-0.25)% without neogenin (P<0.01). It is suggested that neogenin regulates proliferation and apoptosis of TEV-1 cells. And it can enhance the ability of TEV-1 cells to express netrin-1 in a dose-dependent manner. Neogenin may play an important biological role in the normal human pregnancy and contribute to the physiological pregnancy process.
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Objective To investigate the effects of Netrin-1 on angiogenesis in vitro and in vivo. Methods We performed in vitro rat aortic ring assay and in vivo Matrigel plug assay to determine the effect of Netrin-1 on angiogenesis. Results 10 μg/L, 50 μg/L and 100 μg/L Netrin-1 stimulated microvessel sprouting from the adventitia of aortic rings and the effect reached maximum at 50 μg/L The in vivo Matrigel plug assay showed orange color change if Nestrin-1 was positive; and CD34 immunofluorescent staining showed vascular structures in the Matrigel plug with hemachrome ( 53.4 ± 7. 3 ), which was significantly higher than control ( 5. 8 ± 0. 9 )Conclusions Netrin-1 can induce angiogenesis in vitro and in vivo.