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ObjectiveTo apply pneumatic hand rehabilitation equipment in comprehensive rehabilitation training to improve hand function in children with spastic hemiplegic cerebral palsy. MethodsFrom Januray, 2020 to September, 2021, 58 children with spastic hemiplegia cerebral palsy in Maternity and Child Health Care Hospital of Nantong University were randomly divided into control group (n = 29) and experimental group (n = 29). Both groups accepted comprehensive rehabilitation training, while the experimental group accepted pneumatic hand rehabilitation equipment training in addition, for six months. They were assessed with Peabody Developmental Motor Scales-Fine Motor (PDMS-FM), Fine Motor Function Measurement (FMFM) and Wee-Function Independence Measure (Wee-FIM) before and after training. ResultsThe scores of PDMS-FM, FMFM and Wee-FIM improved in both groups after training (|t| > 16.310, P < 0.001), and improved more in the experimental group than in the control group (t > 2.795, P < 0.01). ConclusionApplication of pneumatic hand rehabilitation equipment in comprehensive rehabilitation training can effectively promote the recovery of hand function for children with spastic hemiplegic cerebral palsy.
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There are more and more cases of pulmonary embolism in children, most of whom have etiology or risk factors, and the clinical features are not specific.At present, there is a lack of large samples of clinical researches in children.The methods of evaluation, diagnosis and treatment of pulmonary embolism in children mostly refer to adult experience and standards.No unified standards are applied to children.This review analyzed the risks factors, diagnosis, evaluation and treatments of pulmonary embolism in children, in order to help clinicians judge and treat their patients.
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Objective:To understand the sensory characteristics of children with autism spectrum disorder (ASD), and to explore its relationship with the clinical symptoms and to provide a reference basis for early diagnosis and intervention treatment of ASD.Methods:A cross-sectional survey was conducted to collect 216 children diagnosed with ASD according to DSM-5 from September 2021 to December 2021.All children were investigated with short sensory profile (SSP), autism behavior checklist (ABC) and social response scale (SRS). SPSS 21.0 was used for statistical analysis and the correlation between sensory characteristics and clinical symptoms of ASD children was analyzed by Pearson correlation.Results:The results showed that 120 of 216 with ASD children had abnormal SSP total score, with an abnormal rate of 55.6%.Among the seven dimensions, the abnormal rate of auditory filtering was the highest, reaching 83.8%, followed by low strength/weakness(60.2%), motor sensitivity(43.5%), low response/sensation seeking(39.8%), taste/smell sensitivity(37.5%), vision / hearing sensitivity(27.8%) and tactile sensitivity(17.6%), and the total incidence of paresthesia was 92.1%.There were significant differences in the total score of ABC and the five dimensions of sensation, communication, body movement, language and life self-care of ASD children with different sensory characteristics ( F=39.15, 39.99, 46.02, 29.18, 50.98, 51.76 respectively, all P<0.01). There were significant differences in the total score of SRS and social perception, social cognition, social communication, social motivation among ASD children with different sensory characteristics ( F=19.33, 29.47, 24.82, 29.68, 31.48, 39.86 respectively, all P<0.01). With the aggravation of sensory abnormalities, the total scores of ABC and SRS and the scores of each dimension increased.The total score of SSP was negatively correlated with the scores of sensation, communication, body movement, language, self-care and the total score of ABC ( r=-0.613, -0.631, -0.643, -0.558, -0.657, -0.679 respectively, all P<0.01). The total score of SSP was negatively correlated with social perception, social cognition, social communication, social motivation, autism behavior and the total score of SRS ( r=-0.440, -0.527, -0.504, -0.522, -0.542, -0.595 respectively, all P<0.01). Conclusion:Sensory abnormalities are common in ASD children, and with the aggravation of sensory abnormalities, the core symptoms and behavioral performance of ASD children are more obvious and positively correlated.
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Objective:To study the risk factors of axillary lymph node metastasis by analyzing the acoustic image characteristics of the automated breast volume scanner (ABVS) of breast cancer masses.Methods:The imaging features of ABVS of 212 patients with breast cancer, unilaterally and singly, confirmed by pathological examination admitted in Hangzhou First People’s Hospital from Jan. 2016 to Dec. 2018 were retrospectively analyzed. There were 83 cases with axillary lymph node metastasis (metastatic group) and 129 cases without (non-metastatic group) . The correlation of clinical and the imaging features of ABVS with axillary lymph node metastasis was analyzed using univariate analysis and multivariate logistic regression. ROC curve was used to analyze the cut-off value of the maximum diameter of the mass in predicting the breast cancer axillary lymph node metastasis. The sensitivity, specificity, positive predictive value, and negative predictive value of each risk factor were analyzed for predicting breast cancer axillary lymph node metastasis.Results:The retraction phenomenon and micro-calcification of breast cancer in the metastatic group (60.2%, 65.1%) were higher than those in the non-metastatic group (43.4%,37.2%) ( P=0.017 vs P<0.001) . The maximum diameter of the breast cancer in the metastatic group was bigger than in the non-metastatic group ( Z=2.18, P=0.029) . Multivariate logistic regression analysis showed that the micro-calcification of breast cancer ( OR=2.522, P=0.003) was an independent predictor of lymph node metastasis in breast cancer. The area under the curves and the cut-off value of the maximum diameter of the mass in predicting the breast cancer axillary lymph node metastasis were 0.589 and 2.85 cm. The sensitivity was 34.9%, the specificity was 82.9%, the positive predictive value was 56.9%, and the negative predictive value was 66.5%. The sensitivities of micro-calcification and retraction phenomenon to predict the occurrence of axillary lymph node metastasis in breast cancer patients were 65.1% and 60.2%, specificities were 62.8% and 56.6%, positive predictive values were 52.9% and 47.2%, and negative predictive values were 73.6% and 68.9%. Conclusion:The study suggests that the maximum diameter, micro-calcification, and retraction phenomenon of masses are associated with the occurrence of the axillary lymph node metastasis in breast cancer.
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Objective:To study the respiratory morbidity and the risk factors of respiratory complications in late-preterm infants.Methods:The data of 959 late-preterm infants in 21 hospitals in Beijing from October 2015 to April 2016 were collected.These infants were divided into the respiratory morbidity group (237 cases) and the control group (722 cases) according to whether they had short-term respiratory morbidity after birth.Clinical data of the two groups were compared.Results:Among the 959 late-preterm babies, 530 were male and 429 were female.Two hundred and thirty-seven cases (24.7%) developed short-term respiratory morbidity after birth.Infectious pneumonia developed in the most cases (81 cases, 8.4%), followed by transient tachypnea (65 cases, 6.8%), amniotic fluid aspiration (51 cases, 5.3%), and respiratory distress syndrome (24 cases, 2.5%) successively.All the infants recovered and discharged.There were no differences between gender and maternal age between 2 groups (all P>0.05). Compared with the control group, more late-preterm infants were delivered by cesarean section (73.4% vs.59.7%, χ2=14.43, P<0.001) and the 1-minute Apgar score was lower [(9.41±1.66) scores vs.(9.83±0.53) scores, t=5.40, P<0.001] in the respiratory morbidity group.The differences were statistically significant.There were more cases with maternal complications in the respiratory morbidity group that in the control group (66.7% vs.58.6%, χ2=4.877, P=0.027), but no difference in various complications between 2 groups was observed ( P>0.05). In the respiratory morbidity group, the most frequent complications were maternal hypertension and preeclampsia (27.8% vs.22.6%, χ2=2.728, P=0.099). There were no differences between 2 groups in gestational age, birth weight and birth length (all P>0.05). There were more infants small for gestational age and large for gestational age in the respiratory morbidity group than in the control group (18.8% vs.14.1%, 6.3% vs.2.4%, χ2=8.960, P=0.011). The duration of hospitalization of the respiratory morbidity group was significantly longer than that of the control group [(9.00±4.42) d vs.(6.82±4.19) d, t=6.676, P<0.001] since the infants with respiratory morbidity needed to be hospita-lized. Conclusions:Respiratory diseases occur in about 1/4 of late-preterm infants.Infants who are delivered by cesarean section and whose mothers are complicated with the maternal hypertension and preeclampsia should be monitored closely.Respiratory support should be provided for infants not appropriate for gestational age who are more likely to suffer from respiratory diseases, so that they can successfully pass through the transition period.
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Objective:To follow up and clarify the prognosis of 670 pediatric patients with Dravet syndrome (DS).Methods:The clinical data of DS pediatric patients treated in the Department of Pediatrics, Peking University First Hospital from February 2005 to August 2016 were recorded, and genetic testing was carried out.DS pediatric patients were followed up via subsequent visits at the outpatient and telephone interview.Results:Among 670 cases with DS, 556 cases (556/670 cases, 83.0%) carried SCN1A mutations.In the follow-up, 608 cases were contacted (608/670 cases, 90.7%) and 62 cases (62/670 cases, 9.3%) were lost.The last follow-up median age was 8 years 5 months.Eighty-two cases (82/608 cases, 13.5%) were seizure-free for more than 1 year, with a median age of 9 years and 2 months.Thirty-eight cases relapsed (38/82 cases, 46.3%), mainly induced by fever (34 cases) or mi-ssing antiepileptic drugs (2 cases). Analysis of the relative factors of patients that were seizure-free for more than 1 year showed that children with missense SCN1A mutations, inherited mutations and an older age had a relatively good outcome for seizure control.Twenty-five cases (25/608 cases, 4.1%) were deceased, with a median age of 4 years.The mortality factors included multiple organ dysfunction syndromes after prolonged status epilepticus (12 cases), possible sudden unexpected death in epilepsy (7 cases), asphyxiation after vomiting with or without a seizure (2 cases), and an accidental injury (1 case). The fatal causes in the remaining 3 cases were unknown. Conclusions:DS is an intractable epileptic syndrome, but few patients may have a seizure remission (seizure free for more than 1 year). Patients with mi-ssense SCN1A mutations, inherited mutations and an older age have a relatively good outcome for seizure control.The mortality rate is high in DS patients.The causes of mortality include multiple organ dysfunction syndromes after prolonged status epilepticus, possible sudden unexpected death in epilepsy, and so on.
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Objective To investigate the correlation between the quality of life and joint health status of adult hemophilia patients. Methods Forty-nine adult hemophilia patients were selected.The quality of life and joint health status of patients were evaluated by hemophilia-specific health related quality of life questionnaire for adults (Hemo-QOL-A) and hemophilia joint health score (HJHS). Results The Hemo-QOL-A score of adult hemophilia patients was (39.34 ± 18.97) scores, and HJHS score was(33.16 ± 13.17)scores.The Pearson correlation analysis result showed that Hemo-QOL-A score was positively related with HJHS score (r = 0.490, P<0.05), and Hemo-QOL-A score was positively correlated with muscular condition,joint activity and joint friction sound score of HJHS score(r=0.469, 0.396 and 0.290; P<0.05). Hemo-QOL-A score was not correlated with swelling, swelling duration, arthralgia and gait of HJHS score (P>0.05). In 294 joints of 49 patients, the total abnormal rate of the joint was 82.7%(243/294),the abnormal rate of the elbow joint was 72.4%(71/98),the abnormal rate of the knee joint was 90.8%(89/98),and the abnormal rate of ankle joint was 84.7%(83/98).Conclusions Decreased joint health status, mainly including the surrounding muscle condition and joint mobility, results in lower quality of life in patients with hemophilia.
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Objective To investigate the short-term curative effect of radiofrequency ablation(RFA)in patients with conventional ultrasound negative(CUN)recurrent hepatocellular carcinoma(RHCC)under Contrast-enhanced ultrasound(CEUS). Methods Between January 2013 and March 2017,conventional ultrasound nega-tive RHCC patients in 108 cases of 113 lesions who underwent percutaneous transhepatic RFA guided by CEUS in our Hospital ultrasound department. All cases were characterized by Contrast-enhanced CT/MRI and detected by CEUS in the corresponding position. According to CEUS arterial phase to strengthen the maximum diameter of the group,the largest diameter ≤ 3 cm for the N1 group,> 3 cm for the N2 group. Conventional ultrasound positive (CUP)RHCC patients in 88 cases of 94 lesions who underwent percutaneous transhepatic RFA guided by conven-tional ultrasound were selected as the control group(CUP group).All lesions were treated with RFA prior to CEUS examination.CEUS/CECT/MRI were reviewed at 1 month,3 months and 6 months after RFA,and the short-term efficacy was evaluated after RFA. Results There was no significant difference in the efficacy of RFA between 1 month,3 months and 6 months(P=0.75,P=0.85,P=0.41)between CUN group and CUP group.Comparison of short-term curative effect between N1 group and N2 group.There was significant difference within 6 months after RFA(P<0.001).There was significant difference at 3 months and 6 months after RFA(P=0.033,P=0.001), and there was no significant difference at 1 months after RFA(P=0.123).Analysis of ROC curve of CUN group′s maximum diameter and RFA short-term curative effect,the optimal cutoff value was 2.95 cm,and the area under the cutoff curve(AUC)was 0.90,the sensitivity was 92.3%,and the specificity was 84.0%. Conclusion CEUS can accurately locate and guide,especially at which the maximal diameter 3cm lesions inconventional ultrasound negative RHCC radiofrequency ablation. The lesions which are more than 3cm is needed to use multi-electrode RAF,which is limited by the strengthening time,and the accuracy of Electrodes were deployed decreased,it is not easy to ensure that the ablation area between the effective overlap ablation. Postoperative review can be found in a timely manner recurrence of residual lesions,which demonstrates that the sooner the treatment effect is more ideal.
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Objective To test the the reliability and validity of the Chinese version of the adult haemophilia activities list (HAL).Methods A Chinese version of the HAL was prepared by translation,back-translation and revision.Adult hemophilia patients were used to test it and a short-form arthritis impact measurement scale (AIMS-SF) simultaneously.A total of 98 valid questionnaires were collected.The internal consistency,reliability,split-half reliability,content validity,construct validity and convergent validity were tested.Results The Cronbach's α coefficients for the total questionnaire and its dimensions were all 0.7 or more.The half-reliability test produced a Spearman.correlation coefficient of 0.97.The Pearson correlation coefficients relating each dimension score with the total score and each dimension's entry score with the dimension score were all greater than 0.6.The correlation coefficient between the dimensions of the two questionnaires was smaller than the correlation coefficients relating each dimension with the total scale.There was relatively good correlation between the HAL sum score and the AIMS2-SF sum score (r=0.640,P≤0.01),as well as between the HAL sum score and the AIMS2-SF physical score (r=0.576,P≤0.01).Conclusion The Chinese version of the adult HAL has good reliability and validity.
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Objective To investigate the risk factors of hyperbilirubinemia in late preterm infants. Methods The clinical data of 815 late preterm infants (449 males and 366 females) from 25 hospitals in Beijing were collected from October 2015 to April 2016, including 340 cases(41.7％) with hyperbilirubinemia (hyperbilirubinemia group), and 475 cases without hyperbilirubinemia (control group). The clinical data of two groups were compared, and the maternal factors influencing hyperbilirubinemia in late preterm infants were analyzed with logistic regression. Results There were no significant differences in gender ratio (M:F 1.39 vs. 1.12, t=1.811,P=0.172)and birth weight[(2502.6±439.6)g vs. (2470.2±402.9)g,χ2=2.330,P=0.127)]between two groups. The incidence rates of hyperbilirubinemia in infants of 34 wks, 35 wks and 36 wks of gestational age were 22.9％(87/174), 35％(119/300) and 42.1％(143/341) respectively (χ2=1.218,P=0.544). The multivariate logistic regression analysis indicated that the maternal age(OR=1.044,95％ CI:1.010-1.080,P=0.011)was independent risk factor and multiple births(OR=1.365,95％CI:0.989-1.883,P=0.048), premature rupture of membranes(OR=2.350,95％ CI:1.440-3.833,P=0.001), cesarean section(OR=1.540,95％CI:0.588-4.031,P=0.014)were risk factors for hyperbilirubinemia in late preterm infants. Conclusions The incidence of hyperbilirubinemia in late preterm infants is relatively high. Maternal age, multiple births, premature rupture of membranes and cesarean section are risk maternal factors related to hyperbilirubinemia in late preterm infants.
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<p><b>OBJECTIVE</b>To detect potential mutations of the glutamate receptor subunit (GRIN2A) gene and delineate the clinical-genetic characteristics of patients with epilepsy-aphasia spectrum (EAS) disorders.</p><p><b>METHODS</b>One hundred twenty two patients with Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS), benign childhood epilepsy with centrotemporal spikes (BECT) and BECT variants were recruited. Potential mutations of the GRIN2A gene were screened with Sanger sequencing. And clinical-genetic characteristics for all patients were analyzed.</p><p><b>RESULTS</b>The patients have included 9 LKS, 26 CSWS, 42 BECT variants and 45 BECT. The mean age of onset of seizure or aphasia was 5 years old (10 months to 11 years). Mutation screening has detected 4 possible pathogenic missense mutations including c.2278G>A (p.G760S), c.4153G>T (p.D1385Y), c.1364G>A (p.C455Y) and c.691T>C (p.C231R) in four unrelated probands, which comprised one case with LKS and three with BECT variants. The mutation rate was 11.1% (1/9) for LKS and 7.2% (3/42) for BECT variants. No GRIN2A mutation was found in the 26 patients with CSWS and 45 patients with BECT. Among the 122 probands, 25 (20.5%) patients without a GRIN2A mutation had a positive family history of febrile seizures or epilepsy.</p><p><b>CONCLUSION</b>GRIN2A mutation do exist in EAS patients, but with a relatively low rate. A proportion of EAS patients without a GRIN2A mutation have a positive family history, which suggested a complex mechanism for EAS.</p>
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<p><b>OBJECTIVE</b>To determine the type and frequency of SCN1A deletions and duplications among patients with Dravet syndrome (DS).</p><p><b>METHODS</b>For DS patients in which no mutations of the SCN1A gene were detected by PCR-DNA sequencing, SCN1A deletions and duplications were detected by multiplex ligation-dependent probe amplification (MLPA).</p><p><b>RESULTS</b>In 680 DS patients, 489 had SCN1A mutations identified by PCR-DNA sequencing. In 191 patients who were negative for the SCN1A PCR-DNA sequencing, 15 (15/191, 7.9%) were detected with heterozygous SCN1A deletions or duplications, which included 14 (14/15, 93.3%) SCN1A deletions and 1 SCN1A duplication. There were 13 types of mutations, including whole SCN1A deletions in 3 patients, partial SCN1A deletions in 11 patients and partial SCN1A duplications in one patient. By testing the parents, 14 mutations were found to be de novo. For the remaining case, no SCN1A deletion or duplication was found in the mother, while the father was not available.</p><p><b>CONCLUSION</b>Approximately 8% of Chinese patients who were negative for SCN1A mutation by PCR-sequencing have SCN1A deletions or duplications. The MLPA analysis should be considered as an important strategy for such patients. SCN1A deletions are more common than SCN1A duplications among DS patients, and the most common types are whole SCN1A deletions. The majority of SCN1A deletions or duplications are de novo.</p>
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Femenino , Humanos , Lactante , Masculino , Epilepsias Mioclónicas , Genética , Eliminación de Gen , Duplicación de Gen , Reacción en Cadena de la Polimerasa Multiplex , GenéticaRESUMEN
Objective@#To investigate the clinical phenotypes and the mutant allele proportion of parents with SCN1A gene mutation mosaicism of Dravet syndrome (DS) children, thus to provide guidance for family reproduction and prenatal diagnosis.@*Method@#The clinical data and peripheral blood DNA samples of DS patients with a SCN1A gene mutation proved by Sanger sequencing were collected prospectively from February 2005 to November 2016 in Department of Pediatrics, Peking University First Hospital. The same mutation was searched in parents and other available relatives. Parental somatic mosaicism was confirmed and quantified by Ion Torrent Personal Genome Machine (PGM) and Raindrop droplet digital PCR (ddPCR). The families were followed up and prenatal diagnosis was provided.@*Result@#Mosaicisms of SCN1A gene mutation in parents were identified in 5.2% (30 out of 575) DS families. Seventeen were fathers and thirteen were mothers. The mutant allele proportion ranged from 1.7% to 32.9% by PGM and from 0.82% to 34.51% by ddPCR, respectively. In 30 parents with somatic mosaicism, thirteen were asymptomatic, ten had a history of febrile seizures (FS), five with epilepsy, one with febrile seizure plus and one had a history of afebrile seizure. Four families had two children with DS. Three siblings of the probands were confirmed genetically with the same pathogenic mutation. One deceased sister of the proband was assumed to have the same pathogenic mutation because she matched DS diagnosis after medical history review despite no blood sample. Two families received prenatal diagnosis. One second pregnancy was terminated because the fetus inherited the mutation as the mother's wish.@*Conclusion@#Sanger sequencing detects parents of some children with DS are SCN1A mutation mosaics. PGM and ddPCR can be used for accurate quantification of mutant mosaics, which can provide accurate guidance for family genetic counseling.
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Objective To investigate the value of the automated breast volume scanning (ABVS) combined with virtual touch tissue imaging quantification (VTIQ) in the differential diagnosis of benign and malignant breast lesion.Methods Five hundred and seven patients with a total of 675 breast nodules were detected using ABVS and VTIQ technique.Of them,coronal plane imaging,SWVmax,SWVmin,and SWVmean (in m/s) for each nodule was acquired three days before operation or core needle biopsy.According to pathological results,the receiver operating characteristic (ROC) curve analysis was performed to evaluate the utility of the ABVS alone (retraction phenomenon on coronal plane),VTIQ alone and their combination in the diagnosis of breast lesions.Results Among all nodules,504 lesions were benign,and 171 were malignant.The rate of retraction phenomenon on coronal plane in malignant lesions was significantly higher than that in benign lesions (x2=279.89,P ＜ 0.001).The value of SWVmax,SWVmin,SWVmean (6.79± 1.71 m/s,5.03 ± 1.24 m/s,5.74± 1.36 m/s) in malignant nodules were higher than that of benign nodules [(3.41 ±1.51) m/s,(2.46± 0.87) m/s,(2.65 ± 1.23) m/s],the differences were statistically significant (t=32.43,33.85,26.77,all P ＜ 0.001).The AUC of malignant nodules for SWV (maximum,minimum,and average) were 0.922,0.934 and 0.937,respectively.With cut-off value of 4.045 m/s,SWVmean showed the best diagnostic performance.The sensitivity,specificity and accuracy of the retraction phenomenon on coronal plane,SWVmean and their combination in diagnosing malignant breast lesion were (39.65％,94.39％,95.78％),(97.50％,94.39％,95.53％) and (82.84％,93.51％,94.25％),respectively.And the SWVmean showed significant higher sensitivity than that of retraction phenomenon.The diagnostic capacity significantly improved when the two approaches were combined.Conclusion Both the retraction phenomenon on coronal plane and VTIQ had high diagnostic value,combining the two methods can improve the differential diagnosis ability for breast lesions.
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Building a professional clinical research team inside hospitals is in favor improving their research abilities,accelerating the clinical discipline construction,improving their comprehensive influence.Also it fits the objective of general hospital development under gate-keeping system.Now in domestic,the percentage of professional research staff in large hospitals accounts was much less than the international level.The main reasons included the misunderstanding of constructing the research-oriented hospitals,insufficient human resources enrollment,less attractive environment to the highlevel researchers and the absence of relevant degree training programs.To enhance the construction of research-oriented hospitals,it's of key importance to build the professional research team in hospitals.Besides,the hospital has to update management conception,broaden the channels of talent cultivation,grasp the development of the subject accurately and interact with the basic medicine and public health subject,increase the financial investment and perfect the relevant management regulations.
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Objective To investigate the current status of self-efficacy and care ability among stroke patients′ family caregivers and explore the correlation between them. Method A total of 79 stroke patients and family caregivers were engaged in the investigation by demographical data questionnaires, general self-efficacy scale and questionnaire for assessing the comprehensive care-giving ability of stroke caregivers. Results The score on self-efficacy of the family caregiver was (27.16 ± 5.64) and the total score on care ability was (90.01 ± 16.57). There was a positive correlation between self-efficacy and care ability of family caregivers(P<0.05). Conclusions The self-efficacy and care ability of stroke patient′s family caregivers are at middle level. Their self-efficacy is positively correlated with their care ability. The nurses can improve the ability of daily caring of family caregivers by enhancing their self-efficacy.
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Objective To discuss the experience of using the new dressings in the treatment of refractory wounds in the department of orthopedics. Methods Wound care team gave the treatment and nursing to 7 cases of refractory wounds in the department of orthopedics, used the new type of wound dressings. Results Among 7 cases, 5 cases were cured and discharged. The granulation growth of the wound was good, and the wound was healed after the transfer surgery of the joint flap. One patient had reached the healing rate of 90% after discharging, and recovered after being followed up for 22 days. Conclusions The correct assessment of the wound, reasonable choice of the new dressing, a good job of anti-infection treatment and the skin protection around the wound can effectively promote healing of the refractory wound after fracture, reduce the cost of health care, and bring the satisfaction to the patients and their families.
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<p><b>OBJECTIVE</b>To analyze the ATP1A3 mutations in patients with alternating hemiplegia of childhood (AHC) and recognize its value in diagnosing atypical cases.</p><p><b>METHOD</b>Data of all AHC patients seen at Peking University First Hospital from August 2005 to November 2014 were prospectively collected. Clinical information of the AHC patients and their family members were collected and analyzed. Genomic DNAs were extracted from their peripheral blood. Mutations in ATP1A3 were screened by Sanger sequencing after PCR.</p><p><b>RESULT</b>A total of 78 AHC patients were recruited, including 50 males and 28 females. Only three patients had family history of AHC. The first family case had affected mother with AHC; the second family case was the older one of a monozygotic male twins with AHC but their parents were normal; the third family case had a sister with AHC but their parents were normal. The age of onset ranged from six hours to eight years and six months (median: 4 months). According to the Aicardi's clinical diagnostic criteria, 72 patients were considered as typical AHC cases and the other six patients were considered as atypical AHC cases for their age of onset was older than 18 months. Twenty-seven different missense ATP1A3 mutations were detected in 71 (91.0%, 71/78) patients with AHC, including 66 typical and 5 atypical cases. 11 novel ATP1A3 mutations were first reported. ATP1A3 mutations were identified in the three AHC cases with family history. Parental analysis verified that the ATP1A3 mutation of 63 patients (95.5%, 63/66) were de novo origin except lack of five unavailable maternal or paternal genomic DNA. Mutation D801N was found in 20 cases (28.2%), and E815K in 12 cases (16.9%). In the six atypical AHC patients, ATP1A3 mutations were detected in five of them.</p><p><b>CONCLUSION</b>ATP1A3 was the major causative gene of AHC, and mutations were identified as de novo mostly. ATP1A3 mutations in AHC had mutational hotspot, and the most common mutations were D801N and E815K. ATP1A3 mutation screening is helpful for the genetic and definite diagnosis of the atypical AHC cases.</p>
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Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Análisis Mutacional de ADN , Hemiplejía , Genética , Mutación Missense , ATPasa Intercambiadora de Sodio-Potasio , GenéticaRESUMEN
ObjectiveTo investigate the value of the automated breast volume scanner (ABVS) in the diagnosis of ductal carcinomain situ(DCIS).MethodsSixty-seven patients who were diagnosed as DCIS by histopathology from December, 2010 to December, 2012 were retrospectively analyzed. Their image results and detection rates of mammography, conventional ultrasound and ABVS were analyzed and compared by Nonparametric Cochran'sQ test, and the further comparison were performed between groups by McNemar test.ResultsThe cases diagnosed as mass (with or without microcalcifications) by mammography, conventional ultrasound and ABVS were 13 (19%), 22 (33%) and 25 (37%), respectively. The detection rates of conventional ultrasound and ABVS were higher than mammography, and the differences were statistically significant (χ2=7.11, 10.08, bothP0.05). The cases diagnosed as simple microcalcification or associated with microcalcification by mammography, conventional ultrasound and ABVS were 42 (63%), 30 (45%) and 39 (58%), respectively. The detection rates of simple microcalcification or associated with microcalcifications by mammography and ABVS were higher than conventional ultrasound, and the differences were statistically significant (χ2=8.64, 5.82, bothP0.05). The detection rates of DCIS by mammography, conventional ultrasound and ABVS were 84%, 70% and 91%. The detection rates of DCIS by mammography and ABVS were higher than conventional ultrasound, and the differences were statistically significant. But the rate between mammography and ABVS showed no statistical significance.ConclusionsABVS can improve the ultronic detection rate of breast DCIS. Its detection rate is similar with mammography performance.
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Objective To investigate the association between norepinephrine transporter (NET)gene polymorphism and decision-making processing in patients with cerebral infarction.Methods A total of 145 patients with cerebral infarction and 188 normal controls were enrolled in our study.In all subjects,the polymerase chain reaction (PCR) for NET-T182C/G1287A polymorphism assay,gel electrophoresis,image analysis and enzymatic reaction,gene sequencing methods were used.The relationships of NET T182C/G1287A genotypes and alleles with decision-making processing were analyzed in patients with cerebral infarction.All participants completed six kinds of choice situational problems.Results There were significant differences in genotype and allele frequencies of T182C and G1287A polymorphism in NET between the patients with cerebral infarction and control group(for NET-T182C:genotype,x2 =4.437,P=0.049,allele frequency,x2=4.363,P=0.037,OR=0.625,95％CI:0.436-0.895;for NET-G1287A:genotype,x2=8.435,P=0.038,allele frequency,x2=2.765,P=0.036,OR=1.520,95％CI:1.053-2.193).The cerebral infarction patients with three NET-T182C genotypes and T/C alleles all completed six choice scenarios,and the scheme selection probability had no significant difference (all P＞0.05).In high-risk and no-risk loss situation (scenario 4),the scheme selection probability had significant difference in cerebral infarction patients with NET-G1287 A genotypes and G/A alleles (P＜0.05 and 0.05,OR=1.657,95％CI:1.149-2.390),and the patients with GG genotype tended to choose high-risk loss scheme,and the probability was obviously lower than that patients with other two genotypes,the patients with G allele tended to choose high-risk loss scheme,and the probability was obviously lower than that in patients with A allele (all P＜0.05).In other five choice scenarios,the scheme selection probability had no significant difference between the patients (all P ＞0.05).Conclusions NET-G1287A polymorphism may be associated with decision-making processing in patients with cerebral infarction.In the high-risk and no-risk loss condition,patients with GG genotype and G allele have more loss risk aversion.