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1.
Shanghai Journal of Preventive Medicine ; (12): 768-772, 2023.
Artículo en Chino | WPRIM | ID: wpr-997027

RESUMEN

ObjectiveTo understand the vaccination situation of non-national immunization program (non-NIP) vaccines in Changning District, and to provide evidence for further strengthening the management of vaccination services and guiding community health service centers to construct vaccination clinics for children and adults. MethodsNumber of non-NIP vaccine doses in community health service centers, Changning District, was collected from Shanghai Immunization Information System from 2016 to 2020. Descriptive epidemiological analysis was conducted. ResultsIn 2020, the overall number of non-NIP vaccine doses, proportion of non-NIP vaccine doses and average number of non-NIP vaccine doses in the community health service centers, Changning District, reached up to 115 361 doses, 63.41% and 1 664.54 per10 000 persons, respectively. Furthermore, the proportion of non-NIP vaccine doses showed a significantly upward trend (χtrend2=131.110, P<0.01). The number of non-NIP vaccine doses increased mostly in adults aged >18 years. Human papillomavirus vaccines (HPV) and influenza vaccines (InfV) had the highest increase in vaccine doses. Additionally, non-NIP vaccination peaked from September to December in adults. ConclusionAlong with the number of non-NIP vaccine doses increase, it is necessary to strengthen the management of non-NIP vaccination and explore effective measures for construction of adult vaccination clinics to meet the public demand for vaccination.

2.
Biomedical and Environmental Sciences ; (12): 569-584, 2023.
Artículo en Inglés | WPRIM | ID: wpr-981090

RESUMEN

OBJECTIVE@#This study aimed to assess the relationship between the body composition of children aged 3-5 years and breastfeeding status and duration.@*METHODS@#The study was conducted using data from the National Nutrition and Health Systematic Survey for children 0-17 years of age in China (CNHSC), a nationwide cross-sectional study. Breastfeeding information and potential confounders were collected using standardized questionnaires administered through face-to-face interviews. The body composition of preschool children was measured using bioelectrical impedance analysis. A multivariate linear regression model was used to assess the relationship between breastfeeding duration and body composition after adjusting for potential confounders.@*RESULTS@#In total, 2,008 participants were included in the study. Of these, 89.2% were ever breastfed and the median duration of breastfeeding was 12 months (IQR 7-15 months). Among children aged 3 years, the height-for-age Z-score (HAZ) for the ever breastfed group was lower than that for never breastfed group (0.12 vs. 0.42, P = 0.043). In addition, the weight-for-age Z-score (WAZ) of the ever breastfed group was lower than that of the never breastfed group (0.31 vs. 0.65, P = 0.026), and the WAZ was lower in children aged 4 years who breastfed between 12 and 23 months than in those who never breastfed. Compared to the formula-fed children, the fat-free mass of breastfed infants was higher for children aged 3 years (12.84 kg vs. 12.52 kg, P = 0.015) and lower for those aged 4 years (14.31 kg vs. 14.64 kg, P = 0.048), but no difference was detected for children aged 5 years (16.40 kg vs. 16.42 kg, P = 0.910) after adjusting for potential confounders. No significant difference was detected in the weight-for-height Z-score (WHZ), body mass index (BMI)-for-age Z-score (BAZ), fat-free mass index, and body fat indicators in the ever breastfed and never breastfed groups and among various breastfeeding duration groups for children aged 3-5 years.@*CONCLUSION@#No obvious associations were detected between breastfeeding duration, BMI, and fat mass indicators. Future prospective studies should explore the relationship between breastfeeding status and fat-free mass.


Asunto(s)
Lactante , Femenino , Preescolar , Humanos , Recién Nacido , Niño , Adolescente , Lactancia Materna , Estudios Prospectivos , Estudios Transversales , Índice de Masa Corporal , Composición Corporal
3.
Shanghai Journal of Preventive Medicine ; (12): 466-470, 2023.
Artículo en Chino | WPRIM | ID: wpr-978410

RESUMEN

ObjectiveTo assess the coverage and effectiveness of COVID-19 vaccines in the elderly. MethodsThis study was conducted in Changning District of Shanghai, targeting people aged 60 years and above. Vaccination data between 21 December 2020 and 28 February 2022 was retrieved from the Shanghai Collective Immunization System. Information on confirmed cases of COVID-19 from March 2022 through May 2022 was collected from the National Notifiable Diseases Reporting System. Vaccine effectiveness was calculated using the screening method. ResultsAs of 28 February 2022, 69.89% of people aged ≥60 years had received ≥1-dose vaccine, 63.80% had received full primary vaccination and 31.91% had received a booster dose. Vaccination coverage declined over age, with the lowest coverage in the elderly aged ≥80 years. Moreover, COVID-19 vaccination provided the highest protection against severe/critical illness and death due to the Omicron variants in the elderly aged ≥60 years. Full primary vaccination showed 96.15%(95%CI:84.15‒99.06)of vaccine effectiveness and booster vaccination showed 100% of the effectiveness against severe/critical COVID-19 and death. ConclusionsFull primary and booster vaccination coverage in the elderly is low, especially in those aged 80 and above. Our study finds high protection against COVID-19 associated severe/critical illness and death from both full primary and booster vaccination of inactivated COVID-19 vaccines in the elderly aged ≥60 years.

4.
Chinese Journal of Ultrasonography ; (12): 98-104, 2021.
Artículo en Chino | WPRIM | ID: wpr-884295

RESUMEN

Objective:To explore the clinical feasibility and application method of speckle-tracking echocardiography (STE) in assessing left ventricular longitudinal strain in infants.Methods:One hundred and ten infants within one week of birth were randomly selected in the Third Affiliated Hospital of Guangzhou Medical University from June 2019 to February 2020, and the basic data were collected. STE was performed by two physicians with more than 5 years′ experience.Images of the same infant were analyzed by physicians with 5 years′ experience and 2 years′ experience, respectively, and the difference and correlation of the results between the two doctors were analyzed. The images of the same infant were analyzed twice by the doctor with 5 years′ experience, and the differences and correlations between the results were analyzed. The infants were divided into different groups according to weight to compare the correlations between inter-physicians and intra-physician. STE analysis indicators included global left ventricular longitudinal peak strain (Glps-avg), four-chamber left ventricular longitudinal strain (Glps-A4C), three-chamber left ventricular longitudinal strain (Glps-A3C), two-chamber left ventricular longitudinal strain(Glps-A2C), left ventricular anterior wall longitudinal strain (Glps-a), anterior interventricular septum longitudinal strain(Glps-ais), posterior interventricular septum longitudinal strain (Glps-pis), inferior wall of left ventricle longitudinal strain (Glps-i), posterior wall of left ventricle longitudinal strain (Glps-p), lateral wall of left ventricle longitudinal strain (Glps-l), left ventricular basal section longitudinal strain (Glps-bs), left ventricular middle section longitudinal strain (Glps-ms) and left ventricular apex section longitudinal strain (Glps-as), a total of 13 indicators. The differences were analyzed by paired t test, and the correlations were determined by intra-group correlation coefficient (ICC). Results:According to the inclusion and exclusion criteria, 95 patients were included. For the 13 STE indicators, inter-physicians comparison: the differences between the two physicians were statistically significant (all P<0.05) except for Glps-pis, and the ICC were 0.38-0.72 (all P<0.01). Intra-physician comparison: the differences of these indicators between two measurements were not statistically significant (all P>0.05) except for Glps-ais and Glps-I, ICC were 0.31-0.76 (all P<0.05). Among them, inter-physicians and Intra-physician ICC of Glps-avg, Glps-bs, Glps-ms were 0.68/0.75, 0.72/0.66 and 0.65/0.76 respectively. The group comparison by infants′ weight showed that: In very low weight infants group, the ICC of inter-physicians and intra-physician ranged 0.82-0.93(all P<0.05) and 0.80-0.95(all P<0.05). In low weight infants group, the ICC of inter-physicians and intra-physician ranged 0.65-0.94 (all P<0.05) and 0.69-0.93 (all P<0.01). In the normal weight infants group, ICC of inter-physicians ranged 0.06-0.68, with statistical significance except for Glps-A3C (all P<0.05); ICC of intra-physician ranged 0.36-0.59 (all P<0.05). In overweight infants group, there was no statistical significance in ICC of inter-physicians (all P>0.05), the ICC of intra-physician, Glps-bs and Glps-ms groups were 0.63 and 0.77 (all P<0.05), with no statistical significance in other indicators (all P>0.05). Conclusions:Left ventricular longitudinal strain by STE in infants has better repeatability, and the consistency of intra-physician is higher than inter-physicians, among which the Glps-avg consistency is the best, followed by Glps-bs and Glps-ms. STE is more reproducible in low and very low weight infants than in normal and overweight infants.

5.
Journal of Public Health and Preventive Medicine ; (6): 24-27, 2021.
Artículo en Chino | WPRIM | ID: wpr-886818

RESUMEN

Objective To investigate the current situation and annual trend of injuries among primary and middle school students in Changning District, Shanghai, and to provide scientific evidence for decision-making of prevention and control. Methods The monitoring data of various types of injuries was collected from the “cause of class absence” system during the 2010-2017 school years. The Joinpoint regression analysis was used to estimate the annual percent change and average annual percent change, and to perform the trend test. Results During the 2010-2017 school years in Changning District, a total of 2,286 cases of injuries occurred among primary and middle school students, with an injury rate of about 0.70%. The top three prevalent injury types were falls, traffic accidents, and burn-related injury. The results of Joinpoint trend analysis indicated that the incidence of total injuries in Changning District was generally decreasing, which was mainly due to the effective control of injuries caused by falls, traffic accidents, and burns, and to the decreasing injury incidence among primary school students. Conclusion The overall situation of injuries among primary and middle school students in Changning District has improved significantly, but falls and traffic accidents are still important health threats. More attentions should be paid to certain groups, such as vocational and special education students.

6.
Shanghai Journal of Preventive Medicine ; (12): 1131-1135, 2021.
Artículo en Chino | WPRIM | ID: wpr-907126

RESUMEN

ObjectiveTo evaluate the dosage effect of measles, mumps and rubella combined attenuated live vaccine (MMR) vaccination on seroprevalence of mumps. MethodsA cross-sectional study was conducted among people in Changning District of Shanghai aged 1 month to 19 years old (n=1 816) in Mar.-Sep. 2017. Blood samples were analyzed for mumps antibodies using enzyme-linked immunosorbent immunoglobulin G (IgG) assays. ResultsMumps antibody seropositivity was 94.59% in 2 years old children and maintained at 98.18%-100.00% from 4 to 9 years old. The seropositivity began to decrease since 10 years, and it was 88.33% (95%CI: 81.20%-93.47%) at age of 12 years. In 12-19 years age group, individuals with 3 doses of mumps-containing vaccines had the highest seropositivity (93.88%) and individuals with 1 or 0 doses had the lowest seropositivity (68.75%). ConclusionTwo-dose MMR immunization in Shanghai induces a sharp increase in mumps antibody levels in the corresponding age groups. The antibody levels decline gradually with time since the second dose. Vaccine dosage is positively associated with mumps IgG seropositivity and geometric mean concentrations (GMC) in 12-19 years old.

7.
Shanghai Journal of Preventive Medicine ; (12): 1131-1135, 2021.
Artículo en Chino | WPRIM | ID: wpr-907103

RESUMEN

ObjectiveTo evaluate the dosage effect of measles, mumps and rubella combined attenuated live vaccine (MMR) vaccination on seroprevalence of mumps. MethodsA cross-sectional study was conducted among people in Changning District of Shanghai aged 1 month to 19 years old (n=1 816) in Mar.-Sep. 2017. Blood samples were analyzed for mumps antibodies using enzyme-linked immunosorbent immunoglobulin G (IgG) assays. ResultsMumps antibody seropositivity was 94.59% in 2 years old children and maintained at 98.18%-100.00% from 4 to 9 years old. The seropositivity began to decrease since 10 years, and it was 88.33% (95%CI: 81.20%-93.47%) at age of 12 years. In 12-19 years age group, individuals with 3 doses of mumps-containing vaccines had the highest seropositivity (93.88%) and individuals with 1 or 0 doses had the lowest seropositivity (68.75%). ConclusionTwo-dose MMR immunization in Shanghai induces a sharp increase in mumps antibody levels in the corresponding age groups. The antibody levels decline gradually with time since the second dose. Vaccine dosage is positively associated with mumps IgG seropositivity and geometric mean concentrations (GMC) in 12-19 years old.

8.
Chinese Journal of Medical Genetics ; (6): 841-844, 2021.
Artículo en Chino | WPRIM | ID: wpr-921951

RESUMEN

OBJECTIVE@#To analyze the phenotype and genetic variant of a fetus with dysplasia of cerebellar vermis.@*METHODS@#Gestational status and family history of the gravida was taken in combination with the imaging results of the fetus. Following elected abortion, fetal tissue and peripheral blood samples of the couple were collected for the extraction of genome DNA. Whole exome sequencing was carried out to screen potential variant associated with the phenotype of the proband. Specific PCR primers were designed to verify the results by Sanger sequencing.@*RESULTS@#Prenatal ultrasound revealed that the fetal vermis cerebellum was poorly developed, which was similar to the previous pregnancy. Whole exome sequencing revealed that the fetus has carried compound heterozygous variants of the CPLANE1 gene, namely c.7978C>T and c.7169delT, which were respectively inherited from the husband and wife.@*CONCLUSION@#The c.7978C>T and c.7169delT compound heterozygous variants of the CPLANE1 gene probably underlay the dysplasia of cerebellar vermis in the fetus, which has provided a basis for genetic counseling and prenatal diagnosis.


Asunto(s)
Femenino , Humanos , Embarazo , Anomalías Múltiples/genética , Cerebelo/diagnóstico por imagen , Anomalías del Ojo/genética , Feto , Enfermedades Renales Quísticas , Mutación , Fenotipo , Retina/anomalías
9.
Biomedical and Environmental Sciences ; (12): 891-899, 2021.
Artículo en Inglés | WPRIM | ID: wpr-921344

RESUMEN

The main purpose of the National Nutrition and Health Systematic Survey for children 0-17 years of age in China (CNHSC) was to collect basic data on the nutrition, development, and health status for children in different regions across China using evidence-based, reliable, and cost-effective approaches. Children and their parents or guardians from seven regions (south, southwest, north, northwest, eastern, central, and northeast China) in China were recruited. A multi-stage stratified randomized sampling method was used. Two provinces were randomly sampled from each of the seven regions, from which one urban district and one rural country were also randomly sampled, resulting in a total of 28 survey counties/districts. Dietary surveys, health examinations, laboratory testing, and questionnaires were used to collect dietary intake, nutritional status, child development, and health status information. Nutrition, health, and lifestyle assessment of children and their parents was determined using the Knowledge Attitude Practice (KAP) survey. Greater than 100,000 children (38,000 children < 6 years of age and 66,000 children 6-17 years of age) completed the survey. The survey provided comprehensive data on child nutrition and health status for future studies and will serve as the basis for an integrated nutrition and health improvement strategies proposal for children in China.


Asunto(s)
Adolescente , Niño , Preescolar , Humanos , Lactante , Recién Nacido , Desarrollo Infantil , China , Estado de Salud , Encuestas Epidemiológicas , Encuestas Nutricionales
10.
Biomedical and Environmental Sciences ; (12): 847-858, 2021.
Artículo en Inglés | WPRIM | ID: wpr-921340

RESUMEN

Objective@#This study aimed to understand the characteristics of dietary patterns among children aged 12 to 23 months and discusses the relationship between dietary patterns and the growth of children.@*Method@#Cross-sectional data were selected from the National Nutrition and Health Systematic Survey for 0 to 18 year-old children in China ( @*Results@#Four dietary patterns were identified among the children @*Conclusion@#Although China is undergoing rapid urbanization and economic development, there is still a phenomenon of insufficient intake of protein-rich foods and dairy-based dietary patterns at the stage of complementary food introduced among children aged 12 to 23 months.


Asunto(s)
Femenino , Humanos , Lactante , Masculino , China , Estudios Transversales , Crecimiento , Fenómenos Fisiológicos Nutricionales del Lactante
11.
Chinese Journal of Medical Genetics ; (6): 182-185, 2020.
Artículo en Chino | WPRIM | ID: wpr-781269

RESUMEN

OBJECTIVE@#To perform prenatal diagosis for two fetuses carrying partial deletion of Y chromosome.@*METHODS@#Routine G- and C-banding were carried out to analyze the chromosomal karyotypes of the fetuses and their fathers. Fetal DNA was also subjected to low-coverage massively parallel copy number variation sequencing (CNV-seq), fluorescence in situ hybridization (FISH), SRY gene and AZF factor testing.@*RESULTS@#Both fetuses showed a 46, XN, del(Y) (q11.2) karyotype at 320-400 band level by the analysis of amniotic fluid chromosomes. FISH with Y chromosome centromere probe indicated that in both cases the number of Y chromosome was normal. Both fathers had an apparently normal karyotype at 320-400 band level. For fetus 1, CNV-seq test revealed a 12.88 Mb deletion at Yq11.221-q12, which encompassed the whole of AZFb+AZFc regions and may lead to male infertility, sperm deficiency and/or severe oligospermia. In fetus 2, CNV-seq also detected a 14.84 Mb deletion at Yq11.21-q12, which encompassed the whole of the AZF region and may lead to severe spermatogenesis disorder resulting in severe oligoasthenospermia and azoospermia. In both cases, testing of SRY gene was positive. No point mutation of the SRY gene was identified. Analysis of amniotic fluid DNA confirmed partial or total absence of AZF in the two fetuses, respectively.@*CONCLUSION@#Combined use of various technologies can enable accurate detection of structural abnormalities of the Y chromosome and facilitate genetic counseling. CNV-seq can help with rapid screening of Y chromosome microdeletions and may be used as a complementary test for chromosomal karyotyping.

12.
Chinese Journal of Medical Genetics ; (6): 263-266, 2019.
Artículo en Chino | WPRIM | ID: wpr-772028

RESUMEN

OBJECTIVE@#To explore the genetic basis of a fetus with ventricular septal defect (VSD) by using modified noninvasive prenatal testing (NIPT) for the detection of microdeletion syndromes.@*METHODS@#Chromosomal karyotypes of the fetus and its parents were analyzed by G-banding technique. Next generation sequencing (NGS) was used to detect genomic copy number variations (CNVs) in cell-free fetal DNA. The results were verified by fluorescence in situ hybridization (FISH).@*RESULTS@#The fetus and its parents all had a normal karyotype at 320-400 band level. NGS revealed a deletion of 1.30 Mb at 7q11.23 in the fetus, with a 93% overlap with that of Williams-Beuren syndrome (WBS). The father also had a deletion of 1.42 Mb at 7q11.23, with a 99% overlap with that of WBS. Modified NIPT also detected the 1.30 Mb deletion at 7q11.23 in the fetus. The result of FISH has confirmed the above results.@*CONCLUSION@#It is necessary to carry out genetic testing on fetuses with VSD. NGS can detect fetal microdeletion syndromes and help to trace their parental origin. The modified NIPT for fetal chromosomal microdeletions/microduplication syndromes is highly accurate.


Asunto(s)
Femenino , Humanos , Embarazo , Variaciones en el Número de Copia de ADN , Pruebas Genéticas , Hibridación Fluorescente in Situ , Cariotipificación , Diagnóstico Prenatal , Síndrome de Williams
13.
Chinese Journal of Medical Genetics ; (6): 543-546, 2019.
Artículo en Chino | WPRIM | ID: wpr-771973

RESUMEN

OBJECTIVE@#To explore the genetic basis for a fetus featuring growth restriction and validate the effectiveness of a novel noninvasive prenatal testing (NIPT) technique for the detection of chromosomal microdeletions.@*METHODS@#Next-generation sequencing(NGS) and fluorescence in situ hybridization(FISH) were used to analyze the DNA of the fetus. Conventional G-banding was used to analyze the karyotypes of the fetus and its parents. High-throughput sequencing was used to analyze free fetal DNA.@*RESULTS@#NGS analysis has revealed a 4.88 Mb deletion at 15q11.2-q13.1 region in the fetus, which has a 99% overlap with the critical region of Prader-Willi syndrome (Type 2) and Angelman syndrome (Type 2) and encompassed critical genes including SNRPN and UBE3A. NIPT also revealed a 4.6 Mb deletion at 15q12, which was consistent with the results of fetal cord blood and amniotic DNA testing. FISH assay has confirmed the result of NGS. By karyotying, all subjects showed a normal karyotypes at a level of 320~400 bands.@*CONCLUSION@#It is quite necessary to carry out genetic testing on fetuses showing growth restriction. NIPT for fetal chromosomal microdeletions/microduplication syndromes is highly accurate for the diagnosis of Prader-Willi/Angelman syndrome.


Asunto(s)
Femenino , Humanos , Embarazo , Síndrome de Angelman , Bandeo Cromosómico , Cromosomas Humanos Par 15 , Feto , Hibridación Fluorescente in Situ , Síndrome de Prader-Willi
14.
Chinese Journal of Medical Genetics ; (6): 1123-1126, 2019.
Artículo en Chino | WPRIM | ID: wpr-800869

RESUMEN

Objective@#To explore the genetic cause for abnormal pregnancies through detecting chromosomal copy number variations (CNVs) in abortic tissues by next generation sequencing (NGS).@*Methods@#NGS technique was used to detect CNVs in abortion tissues. Parental chromosomal karyotypes were predicted based on the results. The aberrant chromosomal segments of the parents were accurately mapped by G-banding karyotyping analysis and fluorescence in situ hybridization (FISH).@*Results@#In addition to numerical chromosomal aberrations, 12 microdeletion/microduplications were detected by NGS. For 8 families where both parents accepted chromosomal karyotyping, 4 carriers of chromosomal abnormalities were identified. One marker chromosome was missed by karyotyping analysis, and a mother was confirmed to carry a cryptic balanced translocation by FISH.@*Conclusion@#NGS can facilitate detection of cryptic chromosomal translocations in couples with repeated pregnancy failure and is of great value for detecting abnormal CNVs for its high sensitivity.

15.
Chinese Journal of Medical Genetics ; (6): 1195-1198, 2019.
Artículo en Chino | WPRIM | ID: wpr-799975

RESUMEN

Objective@#To carry out variant analysis for a fetus suspected with harlequin ichthyosis (HI).@*Methods@#Whole exome sequencing (WES) was employed to detect potential variant in the fetus. Suspected variant was validated by Sanger sequencing.@*Results@#A homozygous missense variant c. 6858delT (p.F2286fs) was detected in the fetus, for which both parents were heterozygous carriers. Pathological analysis confirmed the diagnosis of HI.@*Conclusion@#The c. 6858delT variant of the ABCA12 gene probably underlies the disease in the fetus.

16.
Chinese Journal of Thoracic and Cardiovascular Surgery ; (12): 636-640, 2019.
Artículo en Chino | WPRIM | ID: wpr-796966

RESUMEN

Congenital heart defects(CHD) are the most common birth defects in China. However, the etiology of most CHD remains unclear. In recent years, with the development of molecular diagnostic techniques, some researchers began to pay attention to microRNA in CNVs detected in CHD children. However, microRNA in CNVs(miRNA-CNVs) as a genetic mechanism in CHD is not known with certainty. So the research progress of the relationship between microRNA, CNVs, miRNA-CNVs and CHD were summarized in this paper.

17.
Chinese Journal of Thoracic and Cardiovascular Surgery ; (12): 636-640, 2019.
Artículo en Chino | WPRIM | ID: wpr-792103

RESUMEN

Congenital heart defects( CHD) are the most common birth defects in China. However, the etiology of most CHD remains unclear. In recent years, with the development of molecular diagnostic techniques, some researchers began to pay attention to microRNA in CNVs detected in CHD children. However, microRNA in CNVs( miRNA-CNVs) as a genetic mecha-nism in CHD is not known with certainty. So the research progress of the relationship between microRNA, CNVs, miRNA-CNVs and CHD were summarized in this paper.

18.
Chinese Journal of Medical Genetics ; (6): 1123-1126, 2019.
Artículo en Chino | WPRIM | ID: wpr-776731

RESUMEN

OBJECTIVE@#To explore the genetic cause for abnormal pregnancies through detecting chromosomal copy number variations (CNVs) in abortic tissues by next generation sequencing (NGS).@*METHODS@#NGS technique was used to detect CNVs in abortion tissues. Parental chromosomal karyotypes were predicted based on the results. The aberrant chromosomal segments of the parents were accurately mapped by G-banding karyotyping analysis and fluorescence in situ hybridization (FISH).@*RESULTS@#In addition to numerical chromosomal aberrations, 12 microdeletion/microduplications were detected by NGS. For 8 families where both parents accepted chromosomal karyotyping, 4 carriers of chromosomal abnormalities were identified. One marker chromosome was missed by karyotyping analysis, and a mother was confirmed to carry a cryptic balanced translocation by FISH.@*CONCLUSION@#NGS can facilitate detection of cryptic chromosomal translocations in couples with repeated pregnancy failure and is of great value for detecting abnormal CNVs for its high sensitivity.


Asunto(s)
Femenino , Humanos , Embarazo , Aborto Espontáneo , Genética , Aberraciones Cromosómicas , Variaciones en el Número de Copia de ADN , Hibridación Fluorescente in Situ , Cariotipificación , Padres
19.
Chinese Journal of Medical Genetics ; (6): 1195-1198, 2019.
Artículo en Chino | WPRIM | ID: wpr-781318

RESUMEN

OBJECTIVE@#To carry out variant analysis for a fetus suspected with harlequin ichthyosis (HI).@*METHODS@#Whole exome sequencing (WES) was employed to detect potential variant in the fetus. Suspected variant was validated by Sanger sequencing.@*RESULTS@#A homozygous missense variant c.6858delT (p.F2286fs) was detected in the fetus, for which both parents were heterozygous carriers. Pathological analysis confirmed the diagnosis of HI.@*CONCLUSION@#The c.6858delT variant of the ABCA12 gene probably underlies the disease in the fetus.


Asunto(s)
Femenino , Humanos , Embarazo , Transportadoras de Casetes de Unión a ATP , Genética , Feto , Pruebas Genéticas , Heterocigoto , Ictiosis Lamelar , Genética , Diagnóstico Prenatal
20.
Chinese Journal of Practical Nursing ; (36): 895-899, 2018.
Artículo en Chino | WPRIM | ID: wpr-697113

RESUMEN

Objective To explore the effect of monitoring gastric residual status during enteral nutrition in patients with craniocerebral injury. Methods Totally 114 cases were selected from January 2014 to January 2017 in our hospital for enteral nutrition in patients with craniocerebral injury, the patients were divided intocontrol group and observation group according to the random number table, every group had 57 cases,the control received routine nursing care in addition to residual gastric volume status of the patients during enteral nutrition, the observation group adopted nursing measures by monitoring residual gastric volume related to the timing of monitoring gastric residual patients,adjusting nutrient supply rate.The two groups of patients with nursing before and 14 d weight,hemoglobin,plasma albumin,blood glucose were counted and compared; statistics and compared two groups of patients with reflux or aspiration,diarrhea,abdominal distension and the incidence of nutritional compliance rate of two groups of patients in hospital; the incidence of aspiration pneumonia were statistically analyzed and compared. Results Nursing care of two groups before the index contrast, there was no significant difference (P>0.05), the patients in the observation group after nursing 14 d weight, plasma albumin, hemoglobin,blood glucose and other indicators were(57.8±6.7)kg,(38.3±5.9)g/L,(107.2±2.4)g/L,(8.2±2.5)mmol/L,were higher than the control group(55.5±1.3)kg,(37.1±1.3)g/L,(98.7±1.9)g/L,(7.4±3.9)mmol/L, the difference was significant (t=2.015-2.325, P<0.05); the observation group of patients with nutritional compliance rate of 91.23% (52/57) was higher than the control group 63.16% (36/57), the difference was statistically significant(χ2=4.872,P=0.032);the incidence of aspiration pneumonia in the observation group was 7.02% (4/57) which was significantly lower than 12.28% (7/57) in the control group, the difference was statistically significant (χ2=2.124, P=0.045); patients of observation group with reflux and aspiration the incidence of abdominal distension,diarrhea,were 17.54%(10/57),19.30%(11/57),15.79%(9/57),lower than 26.32% (15/57), 29.82% (17/57), 28.07% (16/57) of the control group, the differences were statistically significant (χ2=3.916-5.379, P<0.05). Conclusion It is helpful to improve the nutritional compliance rate and reduce the incidence of complications such as aspiration pneumonia in patients with craniocerebral injury.

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