Clinical efficacy of combined therapy in children with stage 4 neuroblastoma / 中国当代儿科杂志

OBJECTIVES@#To study the early clinical efficacy of combined therapy of stage 4 neuroblastoma.@*METHODS@#A retrospective analysis was performed on the medical data and follow-up data of 14 children with stage 4 neuroblastoma who were diagnosed in Hong Kong University-Shenzhen Hospital from January 2016 to June 2021.@*RESULTS@#The median age of onset was 3 years and 7.5 months in these 14 children. Among these children, 9 had positive results of bone marrow biopsy, 4 had N-Myc gene amplification, 13 had an increase in neuron-specific enolase, and 7 had an increase in vanilmandelic acid in urine. Based on the results of pathological examination, differentiated type was observed in 6 children, undifferentiated type in one child, mixed type, in one child and poorly differentiated type in 6 children. Of all the children, 10 received chemotherapy with the N7 regimen (including 2 children receiving arsenic trioxide in addition) and 4 received chemotherapy with the Rapid COJEC regimen. Thirteen children underwent surgery, 14 received hematopoietic stem cell transplantation, and 10 received radiotherapy. A total of 8 children received Ch14.18/CHO immunotherapy, among whom 1 child discontinued due to anaphylactic shock during immunotherapy, and the other 7 children completed Ch14.18/CHO treatment without serious adverse events, among whom 1 child was treated with Lu177 Dotatate 3 times after recurrence and is still undergoing chemotherapy at present. The median follow-up time was 45 months for all the 14 children. Four children experienced recurrence within 2 years, and the 2-year overall survival rate was 100%; 4 children experienced recurrence within 3 years, and 7 achieved disease-free survival within 3 years.@*CONCLUSIONS@#Multidisciplinary combined therapy is recommended for children with stage 4 neuroblastoma and can help them achieve better survival and prognosis.

Design of alarm system for patients' tumble based on six-axes attitude sensor / 中国医学装备

Objective:To design an alarm system for patients'tumble based on a six-axes attitude sensor so as to monitor patients'tumble during they lied in bed of hospital or they acted in ward of hospital.Methods:The internet of things (IOT) platform with six-axes attitude sensor and Zigbee module which adopted the functions of measurement and calculation based on six-axes attitude sensor were used to compose automatic alarm system for patients'tumble in ward of hospital.Arduino was adopted as the development platform of hardware to obtain the sensors data that were worn on patients through the I2C trunk method.And through implemented preprocess and numerical value filtering for data to perform posture calculation.Results:This design has realized the recognition for patient's current position and the alarm in time for sudden event of tumble.It could assist clinical workers to achieve better care for patients.Conclusion:This design basically realizes the function of monitoring and alarm for the situation of patient's tumble, but there are some problems includes sporadic misjudgment and oversize wearing hardware.It is planned to improve the practicability of the system by improving the algorithm and hardware platform.

Effects of Dexmedetomidine Intratracheal Instillation on Quality of Emergence from General Anesthesia in Patients Undergoing Gynecologic Laparoscopic Operation / 中山大学学报(医学科学版)

[Objective]To evaluate the effects of dexmedetomidine intratracheal instillation on quality of emergence from general anesthesia in patients undergoing gynecologic laparoscopic operation. [Methods]Ninety patients of ASA I orⅡ,aged 18~64 years old,weighed 40~80 kg,scheduled for elective gynecological 1aparoscopic surgery under general anes-thesia,expected surgery time 1-2 h,requiring endotracheal extubation after surgery,were randomly divided into 3 group (n=30 each):control group(group C),exmedetomidine administered intratracheally group(group D1)and dexmedetomi-dine administered intravenously group(group D2).At the beginning of operation,2 μg/kg of dexmedetomidine were infused intratracheal through the drug injection hole of disposable enhanced Ⅲendotracheal tube in group D1 and 0.5 μg/kg of dex-medetomidine were intravenous pumped in 10 minutes in group D2,while saline was used in group C.The patients were sent to postanesthesia care unit after extubaion. MAP and HR were recorded at the time of dexmedetomidine or saline infused (T0),and 5,10,15,30 min(T2-T4)after dexmedetomidine or saline infused,immediately after extubation(T5),and 5,10,15,30 min(T6-T9)after extubation.The time of the patients to recover spontaneous breath,eye opening,extubation and direc-tional power were recorded.The cough reflex scores and sedation-agitation scale during extubation,the visual analogue scale and Ramsay sedation scale at 30 minutes after extubation were also recorded.[Results]①Compared with T0,MAP and HR increased statistically at T5~T7in group C,MAP increased statistically at T5~T6and HR increased statistically at T5~T7in group D1 and D2(P<0.05).Compared with group C,MAP and HR at T5~T7decreased statistically in group D1 and D2(P<0.05).②The scores of cough reflex,sedation-agitation scale and visual analogue scale were significantly lower in group Dl and D2 than in group C(P<0.5).③The incidence of agitation,high blood pressure and tachycardia were significantly lower in group D1 and D2 than in group C(P<0.05).[Conclusions]Either intravenous pumping or intratracheal instillation of dex-medetomidine for patients undergoing gynecological laparoscopic surgery can effectively keep stable perioperative hemody-namics,relieve cough reflex,agitation incidence and enhance the quality of emergence from general anesthesia recovery.

Relationship between genotypes and clinical phenotypes in patients from 7 hemophilia A families / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the mutation types of factor VIII (FVIII) gene in patients from 7 hemophilia A (HA) families and the relationship between FVIII gene mutations and clinical phenotypes.</p><p><b>METHODS</b>A total of 8 patients from 7 HA families were recruited. The activated partial thromboplastin time (APTT) and factor VIII coagulant activity (VIII:C) in these patients were measured. Polymerase chain reaction (PCR) was performed to analyze FVIII gene intron 1 and 22 inversions. For patients without the FVIII intron inversions, direct sequencing was performed to determine their mutation types and other related members of their families were also tested by PCR and sequencing to analyze the corresponding mutation sites.</p><p><b>RESULTS</b>The ranges of APTT and VIII:C of the 8 patients were 91.6-131 seconds and 0.8%-2%, respectively. FVIII gene intron 22 inversion was not detected, while intron 1 inversion was detected in one patient. There were 5 types of mutations in FVIII gene detected in the remaining 7 patients, including 6 patients with mutations in exon 14 and 1 patient with mutation in exon 23; all of the 5 types of mutations were single nucleotide mutations. Among the detected mutations in FVIII gene, p.His1202LeufsX16 (c.3666delA) detected in one patient was found to be a previously unreported mutation in FVIII gene.</p><p><b>CONCLUSIONS</b>FVIII gene exon 14 is a hot-spot mutation region and p.His1202LeufsX16 is found to be a novel mutation in FVIII gene.</p>

Molecular analysis of two pedigrees with inherited coagulation factor VII deficiency / 中华儿科杂志

<p><b>OBJECTIVE</b>To analyze the gene mutation in two pedigrees of inherited coagulation factor VII (FVII) deficiency, and investigate the relationship between the genotype and phenotype.</p><p><b>METHOD</b>The coagulation function and coagulation factors activity of probands were detected for phenotype diagnosis, all exons and junctions of FVII gene from the family members' genomic DNA were amplified using polymerase chain reaction (PCR), and detected the gene mutation by direct sequencing. Mutations were confirmed by reverse sequencing.</p><p><b>RESULT</b>The prothrombin time (PT) of proband 1 was 265.2 s, FVII:C was 22% and the PT of proband 2 was > 120 s, FVII:C was 1%. Homozygous 17844G→A mutation in No. 8 exon of FVII gene was identified in the proband 1 resulting in Gly343Ser, and heterozygosity for the same mutations were confirmed in his parents and a sister. The proband 2 was compound heterozygous, one mutation was the same as the proband 1 but was a heterozygosity that can also found in his mother and brother; the other heterozygosity mutation was located on No. 8 exon 18055G→A that resulted in Gln413Arg which was inherited from his father.</p><p><b>CONCLUSION</b>No. 8 exon of FVII gene encodes catalytic domain. Mutation found in those domain could change the FVII catalytic domain spatial structure, affected FVII function and stability, and the sufferer of homozygote and compound heterozygous may have clinical bleeding tendency. Almost no clinical findings in simple heterozygotes, however, a few of heterozygotes could have a tendency of bleeding because of genetic polymorphism which would reduce the FVII:C.</p>

Application of STR genetic marker system in the detection of hemophilia A carriers in Guangxi, China / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To establish a fast and simple genetic diagnosis technique based on a reliable, short tandem repeat (STR) genetic marker system for the detection of hemophilia A carriers in Guangxi, China.</p><p><b>METHODS</b>Fluorescent PCR and capillary electrophoresis were used for allele genotyping at three intragenic/extragenic STR loci (F8Int13, DXS1073, and DXS9901) of FVIII gene in the members of 10 hemophilia A families in Guangxi, so as to evaluate the diagnostic efficiency of the STR genetic marker system for detection of hemophilia A carriers. Then the STR genetic marker system was used to detect hemophilia A carriers among examinees.</p><p><b>RESULTS</b>In the 10 hemophilia A families, 11 confirmed female carriers had the same allele fragment lengths at the three STR loci (F8Int13, DXS1073, and DXS9901) as the probands. Of the 8 females examined, 5 had allele fragments at the three STR loci (F8Int13, DXS1073, and DXS9901) which were identical to those of the probands, and thus they were diagnosed as hemophilia A carriers.</p><p><b>CONCLUSIONS</b>Genetic analysis at the three STR loci (F8Int13, DXS1073, and DXS9901) can be used to detect hemophilia A carriers rapidly and provide reliable basis for prenatal diagnosis of hemophilia A.</p>