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Objective To investigate the prevalence and influencing factors of HIV/AIDS patients with hyperlipidemia before and after receiving antiviral therapy in Wuhan. Methods A retrospective cohort study was used to analyze the data of HIV/AIDS patients in Wuhan from 2004 to 2021. Elevated levels of either TG or TC were determined as hyperlipidemia. Logistic regression model was used to analyze the influencing factors of baseline hyperlipidemia, and Cox proportional risk model was used to analyze the influencing factors of new-onset hyperlipidemia after receiving antiviral therapy. Results A total of 7 562 HIV/AIDS patients were enrolled, 30.61% (2 315/7 562) with hyperlipidemia at baseline and 69.39% (5 247/7 562) without hyperlipidemia. The mean person-years of follow-up for those patients without hyperlipidemia at baseline were 3.48, of whom 33.14% (1 739/5 247) developed hyperlipidemia during follow-up, with an overall density of 9.53/100 person-years. Multivariate logistic regression analysis showed that age ≥30 years and BMI ≥24 kg/m2 were positively correlated with baseline hyperlipidemia, while CD4 cell count ≥ 200 μL was negatively correlated with baseline hyperlipidemia. Multivariate Cox model analysis showed that new-onset hyperlipidemia after receiving antiviral therapy was significantly positively correlated with BMI between 18.5-23.9 and ≥24 kg/m2, the initial antiviral treatment regimen containing LPV/r, efavirenz and other factors A baseline CD4 cell count of 200 to 349 cells /μL was negatively correlated with new-onset hyperlipidemia. Conclusion HIV/AIDS patients with high BMI and an initial antiviral regimen including Kaletra or efavirenz have a significantly higher risk of hyperlipidemia. Follow-up monitoring of blood lipid in these patients should be strengthened.
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Background@#in vitro culture of preantral follicles is a promising technology for fertility preservation. @*Objectives@#This study aims to investigate an optimized three-dimensional (3D) fetal bovine serum (FBS)-free preantral follicle culture system having a simple and easy operation. @*Methods@#The isolated follicles from mouse ovaries were randomly divided in an ultra-low attachment 96-well plates supplement with FBS or bovine serum albumin (BSA) culture or encapsulated with an alginate supplement with FBS or BSA culture. Meanwhile, estradiol (E 2 ) concentration was assessed through enzyme-linked immunosorbent assay of culture supernatants. The diameter of follicular growth was measured, and the lumen of the follicle was photographed. Spindle microtubules of oocytes were detected via immunofluorescence.The ability of oocytes to fertilize was assessed using in vitro fertilization. @*Results@#The diameters were larger for the growing secondary follicles cultured in ultra-low attachment 96-well plates than in the alginate gel on days 6, 8, and 10 (p < 0.05). Meanwhile, the E 2 concentration in the BSA-supplemented medium was significantly higher in the alginate gel than in the other three groups on days 6 and 8 (p < 0.05), and the oocytes in the FBS-free system could complete meiosis and fertilization in vitro. @*Conclusions@#The present study furnishes insights into the mature oocytes obtained from the 3D culture of the preantral follicle by using ultra-low attachment 96-well plate with an FBSfree system in vitro and supports the clinical practices to achieve competent, mature oocytes for in vitro fertilization.
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Objective:To understand the status quo of nutrition knowledge, attitude and behavior of nurses in class A tertiary hospital and its influencing factors, and to provide reference for the development of reasonable and standard nutrition training courses.Methods:The knowledge, attitude and behavior of nutrition of 207 nurses in 28 class A tertiary hospitals from 17 provinces cities on October 25-26, 2019 were investigated Questionnaire on Nutritional Knowledge, Attitude and Behavior Cognition of Nurses.Results:The scores of nurses′ nutritional knowledge, attitude and behavior were (69.70 ± 2.92), (82.76 ± 4.97) and (64.90 ± 4.77) respectively. There were significant differences in nurses′ nutritional knowledge, attitude and behavior at different ages, nursing ages, whether they had children, the highest educational background, department rotation, technical titles, administrative positions, employment methods, article publication, whether they had participated in nutrition training courses and in different regions ( F values were 6.80-60.95, t values were 2.94-7.08, all P<0.05). The main factors affecting nutrition knowledge were region, nursing age, the highest educational background, department rotation and whether they had participated in nutrition training courses ( t values were -6.88-6.73, all P<0.05). The main factors affecting nutritional attitude were region, nursing age and the highest educational background ( t=-2.22, 6.84, 3.21, all P<0.05). The main factor affecting nutritional behavior was nursing age ( t=5.45, P<0.05). Conclusions:Nurses′ nutritional attitude level is excellent, but their mastery of nutritional knowledge and nutritional nursing behavior level need to be improved. Reasonable, scientific and feasible nutritional training courses should be formulated according to the influencing factors of their nutritional knowledge, attitude and behavior, so as to improve nurses′ nutritional knowledge, belief and behavior level and improve the nutritional status and prognosis of hospitalized patients.
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Objective To establish a mathematical model of tumor growth and invasion under radiotherapy, so as to numerically simulate the effect of radiotherapy on tumor growth and make sensitivity analysis.Methods The mathematical model of tumor growth and invasion with time evolution before and after radiotherapy was established. The model included four key variables in the process of tumor invasion: tumor cells, extracellular matrix (ECM), matrix-degradative enzymes (MDEs) and oxygen. The linear quadratic (LQ) model was used to simulate the survival probability of tumor cells after radiotherapy, and the effects of different radiotherapy schemes and radiotherapy coefficients on the treatment effect were discussed. Traditional radiotherapy and intraoperative targeted radiotherapy were compared.Results Under the premise of constant total dose, the results of radiotherapy were directly proportional to the radiotherapy coefficient, but not related to the radiotherapy frequency; the therapeutic effect of intraoperative targeted radiotherapy was better than that of standard treatment.Conclusions Simulation results are basically consistent with clinical experimental results. As a more efficient treatment method, intraoperative targeted radiotherapy can provide new ideas for clinical tumor treatment.
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Objective:To analyze the electroencephalogram (EEG) characteristics, heart rate (HR) changes and clinical characteristics during the episode of breath-holding spells(BHS), thus providing refe-rences for the differential diagnosis of infants with BHS.Methods:This was a retrospective single-center analysis involving consecutive 14 infants with HBS admitted in Wuhan Children′s Hospital, Tongji Medical College, Huazhong University of Science & Technology from November 2016 to December 2019.Results:A total of 16 episodes of crying-induced BHS were detected in the EEG of 14 infants, of which 3 were mild episodes without loss of consciousness and 13 were severe episodes with loss of consciousness.During the mild episodes, EEG presented a phase with slow-slow mode, and the average duration of each phase was (23.3±5.8) s and (16.7±5.8) s, respectively.In addition, the average recovery time from unconsciousness in 13 severe episodes was (16.7±12.3) s. Among the 13 severe episodes, EEG of 12 episodes presented a phase with slow-flat-slow mode, and the average duration of each phase was (26.4±8.5) s, (8.0±5.1) s and (84.6±46.6) s, respectively.Besides, the second slow wave phase usually started by the generalized delta rhythm with predominance in leads of anterior brain, with the average duration at (6.7±1.5) s. During the 16 episodes of BHS, cyanosis occurred in the first phase of slow wav, and loss of consciousness occurred in the flat phase.Transient bradycardia was observed in the second slow wave phase of 7 episodes, the first slow wave phase of 4 episodes and the flat phase of 2 episodes.Conclusions:Typical EEG pattern of in infants with mild BHS is slow-slow mode, and most of them with severe BHS is slow-flat-slow mode.In the first slow wave phase, slow wave always evolves rapidly.The unconsciousness mostly occurs in the flat period, the lasting time of which is closely related to the duration of the flat phase.The generalized delta rhythm with predominance in leads of anterior brain mostly starts in the second slow wave phase.A brief bradycardia often accompanies with the episodes of BHS in infants.
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Objective:To understand the current situation of the ideological and political cognition of the postgraduate courses for the master degree of nursing and the analysis of the demand for the ideological and political curriculum of the community nursing, and provide preliminary experience for the integration of ideological and political elements into the teaching practice of community nursing.Methods:Using phenomenological research method, the semi-structured interviews were conducted with 15 full-time nursing master degree postgraduates from Tongji University in Shanghai. Colaizzi 7-step analysis was used to analyze the data.Results:Under the mode of curriculum ideological and political education, the cognition and needs of nursing master students can be summarized into four themes: the deficiency of curriculum ideological and political cognition, changes in professional cognition, recognition of the role and importance of curriculum ideological and political education, expectations and needs of community nursing curriculum ideological and political education.Conclusion:Nursing students with master′s degree have a vague understanding of "curriculum ideological and political". In the future, they can add diversified teaching methods starting from professional quality, humanistic care and patriotism education, so as to make the community nursing curriculum ideological and political concept more popular, and strive to cultivate senior nursing talents with both ability and morality.
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Objective:To explore the effect of continuous quality improvement (CQI) on reducing the incidence of peritoneal dialysis (PD)-related peritonitis in patients within the first year of PD initiation.Methods:The patients who received catheter placement from January 2006 to December 2016 in our hospital were enrolled in this study. All patients were divided into four groups: pre-CQI group patients who initiated PD treatment from 2006 to 2007 (before CQI phase, group A), CQI Ⅰphrase patients who initiated PD treatment from 2008 to 2010 (group B), CQI Ⅱ phrase patients who initiated PD treatment from 2011 to 2013 (group C), and CQI Ⅲ phrase patients who initiated PD treatment from 2014 to 2016 (group D). The method of plan, do, check and act (PDCA) was conducted to decrease the incidence of PDRP. All the patients were followed up for 12 months or until they withdrew from PD in this period. Poisson analysis was used to compare the incidence of PDRP among the groups.Results:There were 2 383 PD patients recruited in this study, including 346 cases in group A, 850 cases in group B, 688 cases in group C and 499 cases in group D, with an age of (47.1±15.8) years, among whom 59.1% of the patients were male, and 21.4% with diabetes. The follow-up time was (10.9±2.8) months. Compared with group A, the incidence of PDRP was lower than that in group C (0.156 episodes/patient year vs 0.234 episodes/patient year, P=0.020); the incidence of gram positive PDRP decreased (0.052, 0.049, 0.054 episodes/patient year vs 0.104 episodes/patient year, all P<0.05) in group B, C, D; the incidence of gram negative PDRP increased in group B, then decreased in group C and group D (all P>0.05). Cox regression analysis indicated that CQI was independently associated with the incidence of gram positive PDRP ( HR=0.526, 95% CI 0.349-0.792, P=0.002). Conclusion:CQI can effectively reduce the incidence of gram positive PDRP in patients within the first year of PD initiation.
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Objective:To explore the prevalence and risk factors of exit-site infection (ESI) in elderly peritoneal dialysis (PD) patients.Methods:The status of exit-site was evaluated in elderly PD patients (≥60 years) who had catheter insertion in our center between January 1, 2009 and December 31, 2013, with follow-up for 1 year or withdrawing from peritoneal dialysis in this period. The patients were divided into ESI and non-ESI group. The data was collected including demographics, clinical features, and nursing care methods of the exit-site.Results:A total of 247 patients were recruited in this study, aged (68.6±6.2) years, among whom there were 132 male (53.4%) and 119 diabetes (48.2%). Median follow-up time was 12.0 months. Thirty-two patients had 34 episodes of ESI with a rate of 82.5 patient-months per episode (0.15 episodes per year). Coagulase-negative Staphylococcus was the main pathogen, accounting for 35.3% of the ESI. No bacterial growth was found in 8.8%. The exit-site nursing care status included that poor compliance of exit-site care 23.5%, poor catheter immobilization 62.3%, history of catheter-pulling injury 9.7%, mechanical stress on exit-site 5.3%, improper frequency of nursing care 29.6%, mupirocin usage 13.8%, patients taking exit-site care 26.7%, exit-site caregiver instability 16.6%. There were no differences in demographic (such as age, gender, primary disease, etc) and laboratory data (hemoglobin, serum albumin, blood potassium, etc) between the ESI and non-ESI groups. Poor compliance with exit-site care ( HR=2.352, 95% CI 1.008-5.488, P=0.048), poor catheter immobilization ( HR=3.074, 95% CI 1.046-9.035, P=0.041) and exit-site caregiver instability ( HR=2.423, 95% CI 1.004-5.845, P=0.049) were significantly correlated with increased risk of ESI. Conclusions:The prevalence of ESI in elderly PD patients was 0.15 episodes per year. Educating PD patients to improve the compliance with exit-site care, maintain catheter immobilization and do exit-site care by a stable and trained caregiver may reduce ESI events in elderly PD patients.
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Objective To analyze the clinical characteristics and gene mutations of early －onset epileptic encephalopathy(EOEE)caused by ion channel gene mutation,to identify the etiology,to guide the treatment and to pro﹣vide the basis for genetic counseling. Methods The clinical data from 17 children with EOEE caused by ion channel gene mutation and the peripheral blood of the children and their parents were collected from June 2014 to May 2018 at the Department of Neurology,Tianjin Children′s Hospital. Epilepsy gene sequencing was performed by using disease gene targeting second generation sequencing technology. The mutation of pathogenic ion channel gene was found. The confirmed mutations were verified by Sanger sequencing and the source of the mutation was identified. Results Among 17 case with EOEE,3 cases had genetic mutation,and 14 cases had denovo mutations. Dravet syndrome was found in 8 cases(47. 1﹪),there were SCN1A gene missense mutation in 5 cases,SCN1A gene nonsense mutation in 3 cases, KCNQ2 gene missense mutation in 1 case(5. 9﹪)and non－specific epileptic encephalopathy in 8 cases(47. 1﹪). SCN2A gene missense mutation,SCN4A gene missense mutation,SCN8A gene missense mutation,KCNQ2 gene missense mutation and KCNH gene missense mutation were found in suspected pathogenic mutations. There were 1 missense mu﹣tation out of 5 genes,1 missense mutation of CACNA1A gene,1 missense mutation of GRIN2A gene and 1 missense mu﹣tation of GRIN3A gene. Seventeen patients were treated with 2 or more antiepileptic drugs,4 with ketogenic diet and 1 with vitamin B6 supplementation. During 11 to 96 months of follow－up,seizures were completely controlled in 3 cases (17. 6﹪),decreased in 7 cases(41. 2﹪)by more than 50﹪,and decreased in 7 cases(41. 2﹪)by less than 50﹪. Conclusions The clinical phenotypes for children with unexplained EOEE are varied,and gene mutations of ion cha﹣nnel are most common. Some gene sites are denovo mutations which have not been reported such as missense mutation for 3 case SCN1A gene,1 case SCN2A gene,1 case CACNA1A gene,1 case KCNH5 gene,and nonsense mutation for 2 case SCN1A gene,which have enriched the mutation spectrum of EOEE.
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Objective@#To analyze the clinical characteristics and gene mutations of early-onset epileptic encephalopathy(EOEE) caused by ion channel gene mutation, to identify the etiology, to guide the treatment and to provide the basis for genetic counseling.@*Methods@#The clinical data from 17 children with EOEE caused by ion channel gene mutation and the peripheral blood of the children and their parents were collected from June 2014 to May 2018 at the Department of Neurology, Tianjin Children′s Hospital.Epilepsy gene sequencing was performed by using disease gene targeting second generation sequencing technology.The mutation of pathogenic ion channel gene was found.The confirmed mutations were verified by Sanger sequencing and the source of the mutation was identified.@*Results@#Among 17 case with EOEE, 3 cases had genetic mutation, and 14 cases had denovo mutations.Dravet syndrome was found in 8 cases (47.1%), there were SCN1A gene missense mutation in 5 cases, SCN1A gene nonsense mutation in 3 cases, KCNQ2 gene missense mutation in 1 case (5.9%) and non-specific epileptic encephalopathy in 8 cases (47.1%). SCN2A gene missense mutation, SCN4A gene missense mutation, SCN8A gene missense mutation, KCNQ2 gene missense mutation and KCNH gene missense mutation were found in suspected pathogenic mutations.There were 1 missense mutation out of 5 genes, 1 missense mutation of CACNA1A gene, 1 missense mutation of GRIN2A gene and 1 missense mutation of GRIN3A gene.Seventeen patients were treated with 2 or more antiepileptic drugs, 4 with ketogenic diet and 1 with vitamin B6 supplementation.During 11 to 96 months of follow-up, seizures were completely controlled in 3 cases (17.6%), decreased in 7 cases (41.2%) by more than 50%, and decreased in 7 cases (41.2%) by less than 50%.@*Conclusions@#The clinical phenotypes for children with unexplained EOEE are varied, and gene mutations of ion cha-nnel are most common.Some gene sites are denovo mutations which have not been reported such as missense mutation for 3 case SCN1A gene, 1 case SCN2A gene, 1 case CACNA1A gene, 1 case KCNH5 gene, and nonsense mutation for 2 case SCN1A gene, which have enriched the mutation spectrum of EOEE.
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Objective@#To explore the A wave value in neuroelectrophysiological subtype of Guillain-Barré syndrome(GBS)and the clinical severity and short-term prognosis of acute inflammatory demyelinating polyradiculoneuropathy(AIDP).@*Methods@#From March 2014 to March 2017, a total of 56 children with GBS at Department of Neurology of Wuhan Children′s Hospital Affiliated to Tongji Medical College, Huazhong University of Science & Technology were enrolled.The patients were divided into AIDP subtype(40 cases) and axonal GBS subtype(16 cases) according to the results of electrophysiological examination.According to whether there was existence of A wave or not, the GBS children were divided into 2 groups.The first group was the A wave in GBS group(18 cases), and the second group was non-A wave in GBS group(38 cases). In order to explore classification value for GBS with A wave, clinical data including age, gender, history of prodromal infection, cranial nerve dysfunction, autonomic nerve involvement and conduction blocks were analyzed.To explore A wave value in clinical severity and short-term prognosis of AIDP, the age, gender, clinical severity, conduction blocks, short-term prognosis of the 2 groups were analyzed in A wave with AIDP (18 cases) and non-A wave with AIDP(22 cases).@*Results@#Compared with non-A wave GBS patients, A wave GBS patients had more conduction blocks(10 cases vs.2 cases, χ2=18.021, P=0.000). Age, sex, precedent infections, cranial nerve involvement, autonomic nerve involvement were not significantly statistically different(all P>0.05). A wave was only seen in AIDP subtype(18 cases), and the percentage of A wave in AIDP was 45%(18/40 cases). There was no A wave in axonal GBS.Compared with non-A wave in AIDP, A wave in AIDP patients had more conduction blocks(10 cases vs.2 cases, χ2=9.924, P=0.002), poorer clinical motor function[(3.39±1.09) scores vs.(2.50±1.01) scores, t=2.667, P=0.011]and short-term prognosis[(2.06±0.64) scores vs.(1.55±0.60) scores, t=2.607, P=0.013].@*Conclusions@#A wave is correlated with demyelination subtype in children′s Guillain-Barré syndrome and poor short-term prognosis in AIDP.
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Objectives To investigate the prevalence and its risk factors of restless legs syndrome (RLS) in maintenance peritoneal dialysis (PD) patients.Methods Patients who performed PD in the First Affiliated Hospital of Sun Yat-sen University were recruited by convenience sampling.International Restless Legs Syndrome Study Group diagnostic criteria and International Restless Leg Syndrome rating scale were used to diagnose and evaluate the RLS and its severity.Co-morbidities level,baseline demographic,clinical and biochemical data were collected to analyze the clinical characteristics of patients with RLS.Multivariate logistic regression analysis was used to assess the risk factors for RLS.Results A total of 421 PD patients were enrolled in this study.Their age was (46.3±12.8) years old,44.2％ were female and 17.3％ with diabetes.The median vintage of PD was 46.8(28.0,73.5) months.The prevalence of RLS was 14.0％,most of whom were affected with moderate or severe RLS.Logistic regression analysis showed that younger age,long-term dialysis duration,higher serum calcium and phosphorus were the risk factors associated with RLS in PD patients after adjustment for confounders (all P ＜ 0.05).Conclusions Prevalence of RLS in PD patients is 14.0％.Younger age,long-term dialysis duration,higher serum calcium and phosphorus were the risk factors associated with
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Objective To explore the importance of head fixation in chest wall field combined with supraclavicular field radiotherapy for breast cancer by comparing the displacement error and dosimetric differences caused by multi-functional body board and breast bracket.Methods Thirty patients with breast cancer were randomly divided into groups A and B.In group A,patients were fixed with multi-functional body board and head thermoplastic film.In group B,patients were fixed with traditional breast brackets.Each patient received CBCT scan before and after radiotherapy.Both setup errors and intra-fractional displacements in the x-,y-and z-axis,V100 and V95 were calculated.Statistical analyses were performed using the independent sample t-test.Results The displacement errors in groups A and B before and after radiotherapy were (1.24± 0.42),(1.71± 0.61) and (2.25± 1.04) mm vs.(3.67± 2.05),(3.78± 1.74),(4.65±2.66) mm in the x-,y-and z-axis,respectively (P=0.033,0.027,0.020).The intra-fractional displacements in groups A and B were (1.10±0.66),(1.13±0.59),(1.11 ±0.62) mm vs.(2.48±0.88),(2.21 ±0.98),(3.53±2.01) mm in the x-,y-and z-axis,respectively (P=0.030,0.021,0.013).The V100 in groups A and B were (94.27± 3.20) ％ and (99.08± 0.60) ％ (P =0.065),and (89.48± 4.70) ％ and (96.53± 2.50) ％ for V95 (P =0.002),respectively.Conclusion The risk of displacement error is significantly reduced using multi-functional body board,which enhances the accuracy of radiation dose in chest wall and supraclavicular fields of breast cancer patients.
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Objective To explore the clinical menifestation, electrophysiological characteristics and prognosis of demyelinating and axonal Guillain-Barré syndrome (GBS) in children. Method A total of 81 children with GBS were divided into demyelinating and axonal subtypes according to the results of two electrophysiological examinations. And the clinical, neuro electrophysiological characteristics and prognosis of the two groups were analyzed. Results There were 60 cases of demyelinating GBS and 21 cases of axonal GBS. In children with axonal GBS, there were 5 cases of reversible conduction block. The interval of onset to fastigium in axonal GBS was shorter than that of demyelinating subtype, and blood antiganglioside antibody was more common, and there were statistically differences (P all<0.05). The age at onset, the history of the prodromal infection, the sensory symptoms, the cranial nerve involvement, the impairment of the autonomic nervous function, the cerebrospinal fluid protein-cell separation, and the HG scores at the time of admission and during fastigium were similar between the two groups (P>0.05). Children with reversible conduction block had faster recovery than those without reversible conduction block in axonal GBS, and there was statistical differences (P<0.01). There was no difference in short-term prognosis (2 months after discharge) and long-term prognosis (1 years after discharge) between the axonal GBS and demyelinating GBS children (P>0.05). Conclusion Axonal GBS clinically progressed more rapidly than demyelinating subtype, but there was no difference in prognosis between them. Also, axonal GBS with a reversible conduction block recovered faster.
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Objective To investigate the characteristics of ictal and interictal electroencephalogram (EEG) and clinical manifestation in children with startle epilepsy. Methods The age of onset, inducing factors, the types of attacks, EEG features, cognitive function, treatment and prognosis were retrospectively analyzed in 8 cases of children with startle epilepsy from June 6, 2012 to March 2016. Results In 8 cases, 3 cases were male and 5 were female. The onset age was from 2.3 to 8.1 years old. The forms of onset were varied from generalized (tonic, myoclonic, atonic) to partial seizures (the asymmetry of posture rigidity, spasm). The most common ictal EEG finding was a diffuse electrodecremental pattern (5 cases), and the interictal EEG showed a large number of multifocal, generalized spines, slow waves and multiple spinous waves. There was one case with no history of brain injury while the other 7 cases had a history of brain injury. There were 7 cases with imaging abnormality, and the lesions of the frontal, parietal and temporal regions were indicated with a partial cerebral softening and brain atrophy. In 7 cases, all children had abnormal mental and motor development, and 1 case had normal cognitive function. The 7 cases with shock epilepsy showed no obvious response to the treatment of multiple antiepileptic drugs, and 1 case had no clinical onset after 2 months of treatment with VPA. Conclusions Startle epilepsy is mostly symptomatic, and few are non-symptomatic. The former had history of brain structure abnormalities, certain degree of motor retardation and mental disability, and no clinical response to antiepileptic drug therapy. The latter had basically normal cognitive function, and antiepileptic drug VPA treatment is effective. The degree of interictal epileptic was not an indicator of cognitive impairment and prognosis in children with startle epilepsy.
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Objective To investigate the gene mutations in benign familial infantile epilepsy(BFIE)in Chi-na. Methods Data of all BFIE probands and their family members were collected from Peking University First Hospital and other three hospitals between October 2006 and June 2017. Clinical phenotypes of affected members were analyzed. Genomic DNA was extracted from peripheral blood samples with standard protocol. Mutations in PRRT2 were screened using Sanger sequencing. For families that PRRT2 mutations were not detected by Sanger sequencing,candidate gene mutations were further screened by next - generation sequencing. Results A total of 71 families including 227 affected members were collected. Genetic testing led to the identification of gene mutations in 52 families (52 / 71,73. 2％). Forty - three families had PRRT2 mutations (43 / 71,60. 6％),including 40 families with frameshift mutations(hotspot mutations c. 649_650insC and c. 649delC were detected in 29 families and 6 families,respectively),one family with nonsense mutation,one family with a loss of a stop codon,and one family with a microdeletion of the gene. C. 560_561insT and c. 679C > T were novel PRRT2 mutations. Five families had SCN2A mutations. All SCN2A mutations were missense mutations(c. 668G > A,c. 752T > C,c. 1307T > C,c. 4835C > G,c. 1737C > G). Mutation c. 752T > C, c. 1307T > C,c. 4835C > G,and c. 1737C > G were novel mutations. Three families had KCNQ2 mutations. All KCNQ2 mutations were missense mutations(c. 775G > A,c. 237T > G,c. 1510C > T). Mutation c. 237T > G and c. 1510C > T were novel mutations. One family had a novel GABRA6 mutation c. 523G > T. In 71 BFIE families,16 families had mem-bers who showed paroxysmal kinesigenic dyskinesias(PKD)and subclassified as infantile convulsions with paroxysmal choreoathetosis syndrome(ICCA). Fifteen ICCA families were found having PRRT2 mutations (15 / 16,93. 8％). The remaining ICCA family was not detected with any pathogenic mutation. Conclusion There is high frequency of gene mutations in BFIE families. Mutations in KCNQ2,SCN2A,and PRRT2 are genetic causes of BFIE. PRRT2 is the main gene responsible for BFIE. GABRA6 mutation might be a new cause of BFIE.
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Objective To compare the clinical efficacy and adverse effects of pegaspargase (PEGASP) and L-asparaginase (L-ASP) in the treatment of NK/T-cell lymphoma.Methods A retrospective analysis was conducted on the clinical data of 46 patients with NK/T-cell lymphoma in Department of Oncology of Hospital of Qingdao Commercial Staff from September 2009 to July 2015.There were 24 patients treated by PEG-ASP combined with GDP (gemcitabine + cisplatin + dexamethasone) as PEG-ASP group,and 22 patients treated by L-ASP combined with GDP as L-ASP group.The efficacy and adverse reactions were compared between the two groups.Results In the PEG-ASP group,there were 11 patients with complete remission,7 patients with partial remission,and the complete remission rate and objective response rate were 45.83％ and 75.00％.In the L-ASP group,there were 9 patients with complete remission,6 patients with partial remission,and the complete remission rate and objective response rate were 40.91％ and 68.18％.There was no significant difference between the two groups in objective response rate (x2 =0.263,P =0.608).Adverse effects such as myelosuppression (25.00％ vs.22.73％,x2 =0.033,P =0.857),coagulopathy (8.33％ vs.9.10％,x2=0.008,P =0.927),liver and renal dysfunction (8.33％ vs.18.18％,x2 =0.982,P=0.322),gastrointestinal reaction (41.67％ vs.40.91％,x2 =0.003,P =0.958) were similar in the PEGASP group and L-ASP group.But the risk of allergic reaction incurred by PEG-ASP was much lower than L-ASP (4.17％ vs.36.36％),with a significant difference (x2 =7.561,P =0.006).Moreover,the PEGASP group had a shorter duration of hospitalization [(10.04 ± 1.63) d] than the L-ASP group [(13.09 ± 2.76)d],with a significant difference (t=-4.612,P=0.000).Conclusion The efficacy of PEG-ASP and L-ASP in the treatment of NK/T-cell lymphoma is similar,but the rate of allergic reaction of patients treated with PEG-ASP is significantly lower,and the hospitalization time is significantly shorter,which is worthy of further clinical application.
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The technique of nipple-areola complex (NAC)-sparing mastectomy (NSM) facilitates the breast reconstruction due to preserving the skin and NAC of breast in the treatment of breast cancer. Key issues still remain controversial in NSM, in terms of the role of radiotherapy combined with NSM and sequence of radiotherapy and NSM, which arise from the consideration of the oncology safety. Some investigations addressed that post-NSM external beam irradiation and intra-operative radiotherapy (IORT) combined with NSM could reduce the local recurrence rate. Based on the appropriate patient selection and good quality of surgery, radiotherapy would be applied in different strategies of combination with NSM according to the risk of local recurrence of the cancer.
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Bone remains the predominant site of metastasis in advanced breast cancer. Bone metastases dramatically decrease the quality of life. Moreover, pathologic fractures and other skeletal-related events (SREs) caused by bone metastases could result in higher mortality risk in patients with breast cancer. Palliative radiotherapy is a crucial element in bone metastases treatment. The present review discusses the emerging evidence in bone metastases of breast cancer, focusing on optimized radiotherapy strategies and multidisciplinary management.
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Objective To investigate the treatment outcome of patients with localized soft tissue sarcoma (STS) and related prognostic factors,with a focus of the role of postoperative radiotherapy in the treatment of STS.Methods A retrospective analysis was performed for the clinical data of 203 STS patients who underwent organ preservation surgery in Fudan University Shanghai Cancer Center from July 2000 to July 2010.Of all the patients,76(37.4％) received adjuvant radiotherapy,which was delivered via anterior-posterior parallel opposed fields at a dose of 45-70 Gy.The Kaplan-Meier method was used to calculate survival rates,the log-rank test was used for survival difference analysis,and the Cox proportional hazards model was used for multivariate analysis.Results The follow-up rate was 100％.The 5-year overall survival (OS) rate,local failure-free survival rate,and distant metastasis-free survival rate were 69.1％,69.2％,and 68.0％,respectively.The multivariate analysis showed that pathological subtype,tumor size,resection margin status,and postoperative radiotherapy were influencing factors for OS.Among these factors,postoperative radiotherapy was associated with a significantly reduced risk of local recurrence in STS patients (HR=0.327,95％ CI 0.177-0.605,P=0.000) and a significantly increased OS rate (HR=0.489,95％ CI 0.266-0.897,P=0.021).Conclusions Postoperative radiotherapy can reduce local recurrence and improve OS in patients with localized STS,and further studies are needed to clarify its role.
