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1.
Chinese Journal of Radiological Medicine and Protection ; (12): 45-50, 2023.
Artigo em Chinês | WPRIM | ID: wpr-993049

RESUMO

Objective:To investigate the level of radiation doses to adults caused by CT examination in Huai′an, and explore the local CT diagnostic reference levels (DRLs).Methods:Totally 45 CT scaners were selected to investigate the information on hospitals, equipment, scanning parameters, and radiation doses. Empirical formula were used to estimate the effective dose to adults. Nonparametric rank sum tests were used to analyze differences in radiation dose level between CT service age and hospital grade.Results:A total of 3 483 patients were collected, including 890 for head examinations, 890 for chest, 846 for abdomen, and 857 for lumbar spine. The 75% percentile values of CTDI vol to adult patients from CT scanning for head, chest, abdomen, lumbar spine examinations were 63.0, 12.4, 20.0 and 24.0 mGy, respectively. The 75% percentile values of DLP were 858.6, 416.0, 620.7 and 559.2 mGy·cm, respectively. The 75% percentile values of DLP for males was higher than those for females. There were significant statistical differences in radiation doses dependent on equipment service (head: U =10 326.00, P<0.05; chest: U=36 094.50, P<0.05; abdomen: U= 7 859.00, P<0.05; lumbar spine: U=42 408.00, P<0.05), and hospital grade (head: H=14.280, P<0.05; chest: H=17.85, P<0.05; abdomen: H=97.18, P<0.05; lumbar spine: H=138.94, P<0.05). Conclusions:The CT radiation dose levels in Huai′an city is basically consistent with standard-reommended values, which is in line with the current status of CT equipment dose levels in the country. It is necessary to strengthen the quality control and maintenance of CT equipment.

2.
Journal of International Oncology ; (12): 169-173, 2023.
Artigo em Chinês | WPRIM | ID: wpr-989539

RESUMO

Tertiary lymphoid structures (TLSs) is important channel for tumor immune cell infiltration. The existence of tumor TLSs is not only related to the prognosis of patients, but also to the efficacy of a variety of anti-tumor therapies. To explore the function and immunomodulatory mechanism of TLSs and its potential value as a tumor prognostic biomarker in comprehensive anti-tumor therapy will provide new ideas for follow-up research.

3.
Chinese Journal of Reparative and Reconstructive Surgery ; (12): 717-720, 2023.
Artigo em Chinês | WPRIM | ID: wpr-981658

RESUMO

OBJECTIVE@#To evaluate the effectiveness of neurovascular staghorn flap for repairing defects in fingertips.@*METHODS@#Between August 2019 and October 2021, a total of 15 fingertips defects were repaired with neurovascular staghorn flap. There were 8 males and 7 females with an average age of 44 years (range, 28-65 years). The causes of injury included 8 cases of machine crush injury, 4 cases of heavy object crush injury, and 3 cases of cutting injury. There were 1 case of thumb, 5 cases of index finger, 6 cases of middle finger, 2 cases of ring finger, and 1 case of little finger. There were 12 cases in emergency, and 3 cases with finger tip necrosis after trauma suture. Bone and tendon exposed in all cases. The range of fingertip defect was 1.2 cm×0.8 cm to 1.8 cm×1.5 cm, and the range of skin flap was 2.0 cm×1.5 cm to 2.5 cm×2.0 cm. The donor site was sutured directly.@*RESULTS@#All flaps survived without infection or necrosis, and the incisions healed by first intention. All patients were followed up 6-12 months, with an average of 10 months. At last follow-up, the appearance of the flap was satisfactory, the wear resistance was good, the color was similar to the skin of the finger pulp, and there was no swelling; the two-point discrimination of the flap was 3-5 mm. One patient had linear scar contracture on the palmar side with slight limitation of flexion and extension, which had little effect on the function; the other patients had no obvious scar contracture, good flexion and extension of the fingers, and no dysfunction. The finger function was evaluated according to the total range of motion (TAM) system of the Hand Surgery Society of Chinese Medical Association, and excellent results were obtained in 13 cases and good results in 2 cases.@*CONCLUSION@#The neurovascular staghorn flap is a simple and reliable method to repair fingertip defect. The flap has a good fit with the wound without wasting skin. The appearance and function of the finger are satisfactory after operation.


Assuntos
Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Idoso , Cicatriz/cirurgia , Contratura/cirurgia , Lesões por Esmagamento/cirurgia , Traumatismos dos Dedos/cirurgia , Procedimentos de Cirurgia Plástica , Transplante de Pele/métodos , Lesões dos Tecidos Moles/cirurgia , Resultado do Tratamento
4.
Cancer Research on Prevention and Treatment ; (12): 274-280, 2021.
Artigo em Chinês | WPRIM | ID: wpr-988363

RESUMO

Objective To assess the worldwide research status and the development trend of colorectal cancer. Methods Based on the papers of colorectal cancer indexed in SCI-E database from 2000 to 2019, the year of publication, countries, institutes, sources of journals, discipline fields, highly cited papers in ESI and research hotspots were analyzed by the bibliometric method. Results A total of 160183 papers on colorectal cancer were retrieved, and the number of papers increased year by year. The top 10 countries were USA, China, Japan, Germany, the United Kingdom, Italy, South Korea, France, Netherlands and Canada. Harvard University in the USA had a significant advantage on the research of colorectal cancer. The rank of the journals, institutes and highly cited papers were absolutely dominated by USA. Global research activities on the colorectal cancer displayed the characteristics of interdisciplinary development. The research hotspots mainly focus on the gut microbiota, genetic testing, targeted therapy, immunotherapy and so on. Conclusion It is necessary to strengthen the close combination of basic research and clinical application, and carry out colorectal cancer research in interdisciplinary collaboration with clinical problems.

5.
Chinese Journal of Radiological Medicine and Protection ; (12): 509-513, 2021.
Artigo em Chinês | WPRIM | ID: wpr-910348

RESUMO

Objective:To investigate the current status of the radiodiagnosis and radiotherapy resources and medical exposure frequencies in Huai′an City.Methods:According to the monitoring data in the " Radiological Health Information Management Platform of Jiangsu Province" in 2020, a descriptive analysis was conducted on the personnel, equipment, and exposure frequencies in the institutes engaged in radiation-based diagnosis and treatment in Huai′an.Results:A total of 181 hospitals were investigated in 2020, including 7 tertiary hospitals(3.9%), 24 secondary hospitals(13.3%), 126 primary hospitals(69.6%), and 24 ungraded hospitals(13.3%). There were 1 397 radiation workers, including 948 males and 449 females, and 459 pieces of radiation equipment, including 420 for radio diagnosis, 13 for radiotherapy, 4 for nuclear medicine, and 22 for interventional radiology. The hospitals of different grades greatly differed in the number of radiation workers and equipment. There were 80.1, 20.9, 2.2, and 2.0 radiation workers and 15.7, 5.5, 1.4, and 1.6 pieces of radiation equipment in the tertiary hospitals, secondary hospitals, primary hospitals, and ungraded hospitals, respectively on average. There were 2 903 246, 27 648, 8 087, and 17 874 receiving radiodiagnosis, radiotherapy, nuclear medicine, and interventional radiology, respectively in 2020. The medical exposure frequencies in the whole city were calculated to be 599.50 per 1 000 population, including 334.59 treated with conventional X-rays, 239.82 receiving CT scan, 14.18 for breast and dentistry, 3.62 receiving interventional radiology, 5.61 treated with radiotherapy, and 1.69 receiving nuclear medicine.Conclusions:The radiodiagnosis and radiotherapy resources are unbalanced in the hospitals of different grades in Huai′an City. Therefore, it is necessary to pay more attention to the reasonable allocation of medical resources. Meanwhile, radiation workers in secondary hospitals may be more prone to job burnout. Facing the normalization of the prevention and control of COVID-19 epidemic, the supervision and management of radiological health should be strengthened to ensure the legitimacy of radiological diagnosis and radiotherapy and theoptimization of protection. The frequencies of medical exposure are consistent with the local economic level. To analyze the differences in medical exposure frequencies and predict the developmental trends in different regions, it is necessary to establish a more accurate prediction model.

6.
Chinese Journal of Perinatal Medicine ; (12): 450-453, 2021.
Artigo em Chinês | WPRIM | ID: wpr-885580

RESUMO

Two pedigrees are reported here including two siblings and a boy who were diagnosed with Aicardi-Goutières syndrome type 3 (AGS3) caused by compound heterozygous variation of RNASEH2C gene. Prenatal gene diagnosis was performed when their mothers were pregnant again. All three cases presented with epilepsy, microcephaly, muscular hypertonia and severe language, motor and mental retardation. In pedigree 1, genetic analysis showed compound heterozygous variants of c.194G>A (p.Gly65Asp) and c.434G>T (p.Arg145Leu) in the RNASEH2C gene of proband 1 and her younger brother, which were inherited from their mother and father respectively. While in pedigree 2, c.194G>A(p.Gly65Asp) and c.227C>T(p.Pro76Leu) compound heterozygous variants in the RNASEH2C gene were found in proband 2, which were inherited from his father and mother, respectively. Diagnosis of AGS3 was confirmed in these three cases based on their medical history and the testing results. The mothers from the two families underwent prenatal diagnosis in their subsequent pregnancy, and the variation only inherited from the mothers was detected, suggesting that the two fetuses are carriers. Both families chose to continue the pregnancy and delivered at full-term. No growth or development abnormalities were reported in the children during a one-year follow-up.

7.
Chinese Journal of Radiological Health ; (6): 10-13, 2021.
Artigo em Chinês | WPRIM | ID: wpr-973710

RESUMO

Objective To investigate and analyze the current situation of nuclear technology utilization and radiation workers' occupational health management in non-medical institutions in Huai'an City, and to strengthen the prevention and control of occupational radiation diseases. Methods 37 non-medical institutions of nuclear technology utilization in Huai'an City were surveyed by questionnaire, including radioisotope and radiation apparatus, personal dose monitoring of radiation workers, implementation of occupational health examination, protective equipment, etc. Results The industry covers manufacturing industry, transportation, warehousing and postal industry, scientific research and technical service industry, residential service, repair and other service industries, 0 class I radiation device, 15 class II radiation devices, 67 class III radiation devices; 0 class I and II radiation sources, 1 class III radiation device, 16 class IV radiation sources, 51 class V radiation sources, 1 unsealed radioactive material Class B workplace; 493 radiation workers, 90.5% with certificates, 85.4% with personal dose monitoring rate, rate of 37.8% with radiation protection monitoring equipment, and 68.0% with occupational health examination rate. It has 13 institutions equipped with personal protective equipment, 23 with dose alarming devices and 14 with radiation protection monitors. 30 radiation workplace tests have been carried out in the past two years. Conclusion The occupational health management of radiation workers in non-medical institutions is weak. At present, the responsibility of occupational health supervision has been assigned to the health department. Therefore, the health administrative department should strengthen the supervision of non-medical nuclear technology utilization institutions and improve the emergency mechanism of radiation emergencies in Huai'an city.

8.
Chinese Journal of Perinatal Medicine ; (12): 380-386, 2020.
Artigo em Chinês | WPRIM | ID: wpr-871084

RESUMO

Objective:To summarize the genetic diagnosis of two fetuses with clinically suspected Bardet-Biedl syndrome (BBS) and to provide information for genetic counseling and prenatal diagnosis of BBS.Methods:Case one had prenatal care on October 2018 in Shenzhen Maternity and Child Healthcare Hospital and was clinically suspected of fetal BBS as bilateral renal parenchyma echo enhancement as well as polydactyly (six toes on each foot) were shown on ultrasonic examination at 18 +1 gestational weeks. Case two was another suspected fetal BBS for enlarged kidneys with echo enhancement as well as polydactyly (six fingers and toes on each hand and foot) on ultrasonic examination at 26 +4 gestational weeks on August 2016 and the parent requested for termination. Parents of both cases requested for genetic analysis. Amniotic fluid sample was obtained in case one at 19 +6 weeks through amniocentesis, and umbilical cord specimen of case two and peripheral blood samples of the parents were collected. Genetic analysis of the fetuses and their parents was performed using exon capture and next-generation sequencing and the results were validated using Sanger sequencing. Results:Case one carried paternally inherited c.718G>A (p.Gly240Ser) (possible pathogenic) mutation and maternally inherited c.497C>A(p.Ala166Asp) (possible pathogenic) mutation in BBS7 gene. While one paternally inherited mutation c.1002delT(p.N335Ifs*47) (pathogenic) and one maternally inherited heterozygous mutation c.728G>A (p.Cys243Tyr) (possible pathogenic) were identified in BBS7 gene of case two. The three unreported missense mutations were predicted to be harmful by bioinformatics software and the mutation sites were conservative after comparing with multiple species-based protein sequences. Conclusions:Enlarged kidneys with echo enhancement and polydactyly may indicated a BBS fetus caused by BBS7 gene mutation. Whole exome sequencing could provide relevant information for prenatal diagnosis and genetic counseling in these cases.

9.
Chinese Journal of Radiological Medicine and Protection ; (12): 765-769, 2020.
Artigo em Chinês | WPRIM | ID: wpr-868515

RESUMO

Objective:To estimate the frequencies of medical X-ray diagnositic examinations and analyze their distribution in Huai′an City.Methods:Stratified random sampling was used to select 2 tertiary hospitals including 1 general hospital and 1 MCH hospital, 4 secondary hospitals, 20 primary and unclassified hospitals to investigate medical X-ray examination frequencies in the 26 hospitals in 2017.Results:The average number of X-ray diagnostic equipment were 13.5 pieces in tertiary hospitals, 7.3 in second-level hospitals and 1.6 in primary and ungraded hospitals. The fraction of imported equipment accounted for 85.2%, 69.0% and 9.4%, respectively. The higher the hospital level, the greater the proportion of equipment with five years of service history. The number of examinations in 2017 in the 26 hospitals were X-ray photography 350 221, fluoroscopy 71 597, CT 327 404, dental 23 820 and breast 12 849, respectively. The number of examinations per 1 000 population were estimated to be 444.22 by conventional X-ray and 236.40 by CT.Conclusions:The frequency of conventional X-ray examinations in the city is slightly lower than the average level in Jiangsu province in 2016 and the CT examination frequency is roughly same as in Jiangsu province.

10.
Chinese Journal of Radiation Oncology ; (6): 230-232, 2019.
Artigo em Chinês | WPRIM | ID: wpr-745288

RESUMO

The mortality rate of lung cancer is relatively high and the incidence of lung cancer has been increased year by year.Consequently,early screening and diagnosis plays a crucial role.The traditional screening method is biopsy,which has multiple defects.Radiomics can resolve these limitations and improve the diagnosis and prognosis of lung cancer in a noninvasive and low-cost manner,assisting the clinicians to make decisions in clinical practice.In this paper,the process and application,prospects and challenges of radiomics in the screening of lung cancer were introduced,aiming to promote the development of radiomics.

11.
Chinese Journal of Radiological Medicine and Protection ; (12): 316-320, 2019.
Artigo em Chinês | WPRIM | ID: wpr-745259

RESUMO

ViewRay magnetic resonance (MR) guided radiotherapy system not only solves the problem of imaging dose,but also can set up accurately,online adaptive radiotherapy and gated irradiation according to magnetic resonance imaging (MRI).The development of this system provides a new technical means of accurate radiotherapy.This review describes the main structure of the ViewRay system,and summarizes quality assurance (QA),dosimetric comparison,respiratory motion management,online adaptive radiotherapy,and preliminary treatment effect.

12.
Chinese Journal of Perinatal Medicine ; (12): 169-174, 2018.
Artigo em Chinês | WPRIM | ID: wpr-711180

RESUMO

Objective To investiget the value of chromosome microarray analysis (CMA) in prenatal diagnosis of Jacobsen syndrome.Methods Among all gravidas who received karyotype analysis and CMA because of fetal congenital cardiac abnormalities in Shenzhen Maternity & Child Healthcare Hospital Affiliated to Southern Medical University from 2014 to 2016,four were diagnosed with fetal Jacobsen syndrome and enrolled in this study.Three amniotic fluid and one fetal tissue samples were collected.Peripheral blood specimens were collected from parents of these fetuses.Amniotic fluid samples and peripheral blood specimens were analyzed by karyotype analysis.CMA was performed to analyze amniotic fluid and fetal tissue samples.Multiplex ligation-dependent probe amplification was used to verify abnormal results revealed by CMA.Results (1) Prenatal ultrasound results:Fetus 1 was complicated with monocardian and transposition of the great arteries,fetus 2 with single umbilical artery and double superior vena cava,fetus 3 with severe constricted aorta and ventricular septal defect and fetus 4 with hypoplastic left heart syndrome and presented with a nuchal translucency of 0.27 cm.(2) Karyotyping results of the three amniotic fluid samples were 46,XY,del(11)(q23.3),46,XX,del(11)(q23.3) and 46,XX,del(11)(q23),respectively.(3) CMA results of the four fetuses were arr[GRCh37]11q24.1q25(121 872 273-134 934 196)× 1(13.062 Mb),arr[GRCh37]11q24.1q25(121 325 694-134 937 416)× 1 (13.611 Mb),arr[GRCh37]11q23.3q25(118 977 029-134 937 416)× 1 (15.960 Mb) and arr[GRCh37]11q24.1q24.3(123 144 040-130 308 335)× 1(7.164 Mb),respectively.All chromosomal aberrations in these fetuses were de novo as no abnormalities were found in their parents through karyotyping.All abnormal CMA results were confirmed by multiplex ligation-dependent probe amplification.Conclusions Jacobsen syndrome should be considered when fetuses are diagnosed with congenital cardiac abnormalities by ultrasound.CMA can be used to accurately diagnose Jacobsen syndrome and determine the region and size of chromosome deletion.

13.
Chinese Journal of Medical Genetics ; (6): 18-22, 2018.
Artigo em Chinês | WPRIM | ID: wpr-344137

RESUMO

OBJECTIVE To provide prenatal diagnosis for families affected with tuberous sclerosis complex and explore the correlation between phenotype and genotype. METHODS For probands from 10 families, all exons and splicing regions of the TSC1 and TSC2 genes were analyzed with high throughput DNA sequencing. Suspected mutations were verified by Sanger sequencing. RESULTS All probands were found to have mutations, which included 1 case with TSC1 mutation and 9 cases with TSC2 mutations (missense mutations in 6, nonsense mutations in 2, and frameshifting mutation in 1 case). Prenatal diagnosis was provided for 9 cases, and 1 fetus was found to carry a mutation. Genetic analysis has identified a novel pathogenic mutation (TSC2 c.2415-2416 ins GT). CONCLUSION Identification of pathological mutations for tuberous sclerosis complex can facilitate genetic counseling and prenatal diagnosis for the affected families.

14.
Chinese Journal of Primary Medicine and Pharmacy ; (12): 2950-2953, 2017.
Artigo em Chinês | WPRIM | ID: wpr-614646

RESUMO

Objective To investigate the clinical effects of lactobacillus acidophilus combined with glutathione in the treatment of nonalcoholic fatty liver disease.Methods 120 patients with nonalcoholic fatty liver disease were selected,and they were randomly divided into control group (60 patients used glutathione alone) and observation group (60 patients received lactobacillus acidophilus on the basis of control group).The clinical efficacy,liver function index,blood lipid index and the ultrasonography grading of fatty liver before and after treatment of the two groups were compared.Results The clinical total effective rates of the control group and the observation group were 76.67%,91.67%,respectively.The total effective rate of the observation group was significantly higher than that of the control group(x2 =10.52,P < 0.05).The levels of AST,ALT and GGT of the observation group after treatment were significantly lower than those of the control group and before treatment [(36.89 ± 7.14) U/L,(36.89 ± 7.14) U/L,(36.89 ±7.14) U/L vs.(49.36 ± 11.08) U/L,(45.91 ± 10.24) U/L,(90.28 ± 20.70) U/L;(36.89 ± 7.14) U/L,(36.89 ± 7.14) U/L,(36.89 ± 7.14) U/L vs.(92.90 ± 24.3) U/L,(81.11 ± 17.37) U/L,(147.27 ± 34.19) U/L,t =2.88,2.54,2.91;3.01,3.36;3.18,3.48;3.41,3.87;all P <0.05).The levels of TG,TC,HDL-C and LDL-C of the observation group after treatment were significantly better than those of the control group and before treatment [(1.66 ± 0.42) mmol/L,(4.05 ± 0.77) mmol/L,(1.69 ± 0.60) mmol/L,(2.44 ± 0.38) mmol/L vs.(2.13 ± 0.80) mmol/L,(4.64 ± 0.94) mmol/L,(1.45 ± 0.48) mmol/L,(2.97 ± 0.57) mmol/L;(1.66 ± 0.42) mmol/L,(4.05 ± 0.77) mmol/L,(1.69 ± 0.60) mmol/L,(2.44 ± 0.38) mmol/L vs.(2.71 ± 1.33) mmol/L,(5.42 ± 1.27) mmol/L,(1.08 ± 0.36) mmol/L,(3.49 ± 0.71) mmoL/L,t =2.43.2.13,2.55,2.07;3.02,3.41;3.11,3.65;2.81,3.30;2.87,3.15;all P < 0.05).In the control group,normal in 6 cases,mild in 24 cases,moderate in 21 cases and severe in 9 cases as fatty liver degree;in the observation group,normal in 13 cases,mild in 30 cases,moderate in 13 cases and severe in 4 cases as fatty liver degree.The ultrasonography grading of fatty liver of the observation group after treatment were significantly better than those of control group and before treatment (U =3.74,5.20,all P < 0.05).Conclusion Lactobacillus acidophilus combined with glutathione in the treatment of nonalcoholic fatty liver disease can efficiently promote the recovery process of liver function,regulate blood lipid levels and is helpful to improve the imaging grading.

15.
Chinese Journal of Radiological Medicine and Protection ; (12): 717-721, 2017.
Artigo em Chinês | WPRIM | ID: wpr-662690

RESUMO

With the development of technology, several treatment plans can be got easily. There are many parameters related to the treatment in each plan and it is not only complex but also time-consuming to analyze them. So it is difficult for radiation oncologists to choose a plan. In order to solve the problem, a fast tool was developed integrating parameters such as conformity index and homogeneity index. This paper reviewed the type development, formula and features of conformity index and homogeneity index, in order to provide reference for users.

16.
Chinese Journal of Radiological Medicine and Protection ; (12): 717-721, 2017.
Artigo em Chinês | WPRIM | ID: wpr-660544

RESUMO

With the development of technology, several treatment plans can be got easily. There are many parameters related to the treatment in each plan and it is not only complex but also time-consuming to analyze them. So it is difficult for radiation oncologists to choose a plan. In order to solve the problem, a fast tool was developed integrating parameters such as conformity index and homogeneity index. This paper reviewed the type development, formula and features of conformity index and homogeneity index, in order to provide reference for users.

17.
Chinese Journal of Medical Genetics ; (6): 684-687, 2017.
Artigo em Chinês | WPRIM | ID: wpr-344196

RESUMO

<p><b>OBJECTIVE</b>To provide prenatal diagnosis for two couples who respectively carried heterozygous CD41-42 (-TCTT) and CD43 (G>T) mutations of the beta hemoglobin gene.</p><p><b>METHODS</b>The mutations were simultaneously detected with reverse dot blot (two diagnostic kits), multi-color melting curve analysis and sequencing analysis.</p><p><b>RESULTS</b>The fetus of family 1 was shown to be heterozygous for CD43 (G>T) by the three methods, while the fetus of family 2 was shown to be double heterozygous for CD41-42 (-TCTT) and CD43 (G>T) by multi-color melting curve analysis and sequencing analysis. The two diagnostic kits yielded different results by reverse dot blot, one as double heterozygous for CD41-42 (-TCTT) and CD43 (G>T), and another as homozygous for CD41-42 (-TCTT).</p><p><b>CONCLUSION</b>For prenatal diagnosis of couples carrying mutations of beta hemoglobin gene such as CD41-42 (-TCTT) and CD43 (G>T), other methods such as Sanger sequencing should be used in order to avoid misdiagnosis.</p>


Assuntos
Feminino , Humanos , Masculino , Gravidez , Erros de Diagnóstico , Heterozigoto , Mutação , Diagnóstico Pré-Natal , Kit de Reagentes para Diagnóstico , Globinas beta , Genética , Talassemia beta , Diagnóstico , Genética
18.
Chinese Journal of Medical Genetics ; (6): 802-805, 2017.
Artigo em Chinês | WPRIM | ID: wpr-344172

RESUMO

<p><b>OBJECTIVE</b>To study the characteristics, location, and amino acid changes of novel mutations of the Dystrophin gene.</p><p><b>METHODS</b>Twelve patients in whom no deletion or duplication of the Dystrophin gene was detected were analyzed with next-generation sequencing. Fifty healthy adult males were recruited as the controls.</p><p><b>RESULTS</b>All patients were detected with mutations of the Dystrophin gene, which included c.33C>G, c.583C>T, c.1333C>T, c.2593C>T, c.5731A>T, c.7288G>T, c.2803+1G>T, c.10034G>A, c.4289A>G, c.1905_906delAG, c.5017delC, c.5768_5771delAAGA, and c.6261_6262insA. No similar mutations were found among the controls.</p><p><b>CONCLUSION</b>Our data has enriched the mutation spectrum of the Dystrophin gene and may provide an important basis for genetic diagnosis.</p>


Assuntos
Criança , Pré-Escolar , Humanos , Masculino , Distrofina , Genética , Sequenciamento de Nucleotídeos em Larga Escala , Mutação
19.
Chinese Journal of Medical Genetics ; (6): 1-5, 2017.
Artigo em Chinês | WPRIM | ID: wpr-345337

RESUMO

<p><b>OBJECTIVE</b>To assess the value of G-banded karyotyping in combination with multiplex ligation-dependent probe amplification (MLPA) as a tool for the detection of chromosomal abnormalities in fetuses with congenital heart defects.</p><p><b>METHODS</b>The combined method was used to analyze 104 fetuses with heart malformations identified by ultrasonography. Abnormal findings were confirmed with chromosomal microarray analysis (CMA).</p><p><b>RESULTS</b>Nineteen (18%) fetuses were found to harbor chromosomal aberrations by G-banded karyotyping and MLPA. For 93 cases, CMA has detected abnormalities in 14 cases including 10 pathogenic copy number variations (CNVs) and 4 CNVs of uncertain significance (VOUS). MLPA was able to detect all of the pathogenic CNVs and 1 VOUS CNV.</p><p><b>CONCLUSION</b>Combined use of G-banded karyotyping and MLPA is a rapid, low-cost and effective method to detect chromosomal abnormalities in fetuses with various heart malformations.</p>


Assuntos
Feminino , Humanos , Gravidez , Aberrações Cromossômicas , Bandeamento Cromossômico , Transtornos Cromossômicos , Diagnóstico , Genética , Variações do Número de Cópias de DNA , Doenças Fetais , Diagnóstico , Genética , Testes Genéticos , Métodos , Cardiopatias Congênitas , Diagnóstico , Genética , Cariotipagem , Métodos , Reação em Cadeia da Polimerase Multiplex , Métodos , Diagnóstico Pré-Natal , Métodos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
20.
Chinese Journal of Radiation Oncology ; (6): 320-323, 2017.
Artigo em Chinês | WPRIM | ID: wpr-510145

RESUMO

Objective To retrospectively design an intensity?modulated radiotherapy ( IMRT) plan with split field and fixed jaw techniques for peripheral lung cancer with mediastinal lymph node metastasis, to compare dosimetric characteristics between the IMRT plans with fixed jaw and dynamic jaw, and to study lung protection by the plan with split field and fixed jaw. Methods Treatment plans were collected from 12 patients with peripheral lung cancer and mediastinal lymph node metastasis who were treated with IMRT in our hospital. All plans used the dynamic jaw technique. The plans with split field and fixed jaw were designed based on the identical computed tomography images and planning target volume ( PTV) . Each jaw position in split field depended on each separate PTV. The prescription dose was 60 Gy in 30 fractions. 95%PTV was planned to receive 100% of the prescription dose. Dosimetric parameters of PTV, conformity index ( CI) , heterogeneity index ( HI) , number of monitor units ( MUs) , and dose?volume values of the lung and heart were obtained from dose?volume histogram. Comparison between the two plans was made by paired t test. Results Both plans met clinical requirements. There were no significant differences in D2 , D98 , CI, or HI of PTV between the two plans ( all P>005) . Compared with the dynamic jaw plan, the fixed jaw plan had MUs increased by 15%?20%( P=0010) . The V5 , V10 , V20 , V30 , and mean dose for the whole lungs were significantly lower in the fixed jaw plan than in the dynamic jaw plan ( P=0000, 0000, 0000, 0002,0000) . The V5 , V20 , and mean dose for the healthy lung were also significantly lower in the fixed jaw plan than in the dynamic jaw plan ( P=0000,0017,0000) . There were no significant differences in dose?volume values for the spinal cord or heart between the two plans ( all P>005) . Conclusions IMRT with split field and fixed jaw is recommended for patients with peripheral lung cancer and mediastinal lymph node metastasis. The therapy to a certain extent reduces low?dose volume for the lung and the incidence of radiation?induced pneumonitis.

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