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1.
Chinese Journal of Contemporary Pediatrics ; (12): 67-71, 2024.
Artículo en Chino | WPRIM | ID: wpr-1009895

RESUMEN

OBJECTIVES@#To investigate the disease spectrum and pathogenic genes of inherited metabolic disorder (IMD) among neonates in Gansu Province of China.@*METHODS@#A retrospective analysis was conducted on the tandem mass spectrometry data of 286 682 neonates who received IMD screening in Gansu Provincial Maternal and Child Health Hospital from January 2018 to December 2021. A genetic analysis was conducted on the neonates with positive results in tandem mass spectrometry during primary screening and reexamination.@*RESULTS@#A total of 23 types of IMD caused by 28 pathogenic genes were found in the 286 682 neonates, and the overall prevalence rate of IMD was 0.63 (1/1 593), among which phenylketonuria showed the highest prevalence rate of 0.32 (1/3 083), followed by methylmalonic acidemia (0.11, 1/8 959) and tetrahydrobiopterin deficiency (0.06, 1/15 927). In this study, 166 variants were identified in the 28 pathogenic genes, with 13 novel variants found in 9 genes. According to American College of Medical Genetics and Genomics guidelines, 5 novel variants were classified as pathogenic variants, 7 were classified as likely pathogenic variants, and 1 was classified as the variant of uncertain significance.@*CONCLUSIONS@#This study enriches the database of pathogenic gene variants for IMD and provides basic data for establishing an accurate screening and diagnosis system for IMD in this region.


Asunto(s)
Niño , Recién Nacido , Humanos , Estudios Retrospectivos , Enfermedades Metabólicas/genética , Errores Innatos del Metabolismo de los Aminoácidos/genética , China , Salud Infantil
2.
Chinese Journal of Ocular Fundus Diseases ; (6): 214-217, 2023.
Artículo en Chino | WPRIM | ID: wpr-995615

RESUMEN

Objective:To observe the clinical and fundus imaging features of acute macular neuroretinopathy (AMN) associated with COVID-19.Methods:A retrospective case study. A total of 32 eyes of 18 patients diagnosed of AMN associated with COVID-19 at Chengdu Aidi Eye Hospital from December 2022 to February 2023 were included. All patients had a history of fever 1 to 5 days prior to ocular onset and tested positive for SARS CoV-2 antigen. All patients were examined by best-corrected visual acuity (BCVA), color fundus photography, scanning laser ophthalmoscope (SLO), infrared fundus photography (IR), and optical coherence tomography (OCT); OCT angiography, visual field and multifocal electroretinogram (mf-ERG) were performed in 6 patients (11 eyes), 3 patients (6 eyes) and 1 patient (2 eyes), respectively. Follow-up time was 8-10 weeks. The clinical and fundus imaging features were observed and analyzed.Results:There were 6 males (12 eyes) and 12 females (20 eyes), aged from 15 to 36 years, with the mean age of (28.00±5.86) years. Fourteen patients were bilateral and 4 patients were unilateral. The time from the onset of eye symptoms to seeing a doctor was ranged from 1 day to 8 weeks. Among them, 6 patients (10 eyes) visited the doctor within 3 days of onset, while 12 patients (22 eyes) visited the doctor after 3 days of onset. The BCVA was 0.80±0.29. Fundus color photography and SLO examination showed that only 2 patients (4 eyes) showed sheet or petal-like dark red lesions in the macular area, and no obvious abnormal changes were observed in other patients. No obvious abnormalities were found in AF examination of all patients. IR examination showed no significant abnormality in 6 cases which came to hospital within 3 days after the onset, but irregular hyporeflective dark shadow lesions in the macular region of patients with more than 3-day course of disease was observed. OCT examinations of all eyes showed hyperreflective band or patchy lesion on the outer plexiform layer (OPL) and outer nuclear layer (ONL) and affect the ellipsoid zone (EZ) and interdigitation zone (IZ). In 11 eyes of 6 patients undergoing OCTA examination, the blood flow density of the choroidal capillary layer in the focal area decreased. In 6 eyes of 3 patients who underwent visual field examination, the physiologic scotoma was slightly enlarged. One patient (2 eyes) receiving mf-ERG showed a concave reduction in macular center amplitude. The hyperreflective band lesion on OPL and ONL disappear rapidly within 2 weeks, while the continuity of EZ recovered slowly, and the disruption of IZ kept existing for more than 10 weeks.Conclusions:Most AMN associated with COVID-19 are young women; IR showed irregular weak reflex in the lesion area. OCT showed strong OPL and ONL reflection. OCTA was characterized by decreased blood flow density in the choroidal capillary layer of the focal area.

3.
Chinese Journal of Surgery ; (12): 145-149, 2023.
Artículo en Chino | WPRIM | ID: wpr-970198

RESUMEN

Objective: To investigate the safety and efficacy of embedding the stump of gastroduodenal artery between the left lateral lobe of the liver and the left caudate lobe to prevent bleeding after laparoscopic pancreaticoduodenectomy. Methods: The clinical data of 41 patients who underwent laparoscopic pancreaticoduodenectomy at the second Hospital of Hebei Medical University from October 2021 to April 2022 were analyzed retrospectively.There were 27 males and 14 females, aged (63.0±9.2)years (range: 48 to 78 years), and the body mass index was (24.1±3.2)kg/m2 (range: 15.4 to 31.6 kg/m2). After routine laparoscopic pancreaticoduodenectomy, the stump of gastroduodenal artery was embedded between the left lateral lobe and the left caudate lobe of the liver, and the hepatic parenchyma of the left lateral lobe and the left caudate lobe were sutured with absorbable sutures.The occurrence and recovery of postoperative complications (pancreatic fistula, biliary fistula, postoperative abdominal bleeding, abdominal infection, liver abscess) were observed. Results: All the operations of 41 patients were completed successfully.The operation time was (277.5±52.0) minutes (range: 192 to 360 minutes). The entrapment time of gastroduodenal artery stump was (3.1±0.6) minutes (range: 2.3 to 4.2 minutes), and the intraoperative blood loss (M(IQR)) was 300 (200) ml (range: 50 to 800 ml).The results of ultrasound examination of hepatic artery on the first day after operation showed that the blood flows of hepatic artery were unobstructed.Postoperative pancreatic fistula occurred in 3 cases, including grade B pancreatic fistula in 2 cases (1 case with abdominal infection) and biochemical leakage in 1 case. Three patients with pancreatic fistula were discharged successfully after continuous abdominal drainage. There was no biliary fistula, abdominal bleeding, abdominal infection, liver abscess or postoperative liver dysfunction. Conclusion: The encasement of the gastroduodenal artery stump by the left outer and left caudate lobes of the liver may be an effective way to prevent bleeding from the rupture of the gastroduodenal artery stump after laparoscopic pancreatoduodenectomy, which is easy and safe to perform.


Asunto(s)
Femenino , Masculino , Humanos , Arteria Hepática , Pancreaticoduodenectomía , Fístula Pancreática , Estudios Retrospectivos , Laparoscopía , Absceso Hepático , Infecciones Intraabdominales , Hemorragia Posoperatoria/prevención & control
4.
Neuroscience Bulletin ; (6): 1533-1543, 2023.
Artículo en Inglés | WPRIM | ID: wpr-1010620

RESUMEN

Alzheimer's disease (AD) is associated with the impairment of white matter (WM) tracts. The current study aimed to verify the utility of WM as the neuroimaging marker of AD with multisite diffusion tensor imaging datasets [321 patients with AD, 265 patients with mild cognitive impairment (MCI), 279 normal controls (NC)], a unified pipeline, and independent site cross-validation. Automated fiber quantification was used to extract diffusion profiles along tracts. Random-effects meta-analyses showed a reproducible degeneration pattern in which fractional anisotropy significantly decreased in the AD and MCI groups compared with NC. Machine learning models using tract-based features showed good generalizability among independent site cross-validation. The diffusion metrics of the altered regions and the AD probability predicted by the models were highly correlated with cognitive ability in the AD and MCI groups. We highlighted the reproducibility and generalizability of the degeneration pattern of WM tracts in AD.


Asunto(s)
Humanos , Sustancia Blanca/diagnóstico por imagen , Imagen de Difusión Tensora/métodos , Enfermedad de Alzheimer/complicaciones , Reproducibilidad de los Resultados , Cognición , Disfunción Cognitiva/complicaciones , Encéfalo/diagnóstico por imagen
5.
Chinese Journal of Epidemiology ; (12): 504-510, 2023.
Artículo en Chino | WPRIM | ID: wpr-969935

RESUMEN

Non-syndromic oral cleft (NSOC), a common birth defect, remains to be a critical public health problem in China. In the context of adjustment of childbearing policy for two times in China and the increase of pregnancy at older childbearing age, NSOC risk prediction will provide evidence for high-risk population identification and prenatal counseling. Genome-wide association study and second generation sequencing have identified multiple loci associated with NSOC, facilitating the development of genetic risk prediction of NSOC. Despite the marked progress, risk prediction models of NSOC still faces multiple challenges. This paper summarizes the recent progress in research of NSOC risk prediction models based on the results of extensive literature retrieval to provide some insights for the model development regarding research design, variable selection, model-build strategy and evaluation methods.


Asunto(s)
Humanos , Fisura del Paladar/genética , Labio Leporino/genética , Estudio de Asociación del Genoma Completo , Predisposición Genética a la Enfermedad , Factores de Riesgo , Polimorfismo de Nucleótido Simple
6.
Chinese Journal of Preventive Medicine ; (12): 356-361, 2023.
Artículo en Chino | WPRIM | ID: wpr-969898

RESUMEN

Objective: Exploring the neuropsychological developmental characteristics and influencing factors of children with speech disorder. Methods: A case-control study was conducted. A total of 395 children diagnosed with speech disorders were selected as speech sound disorder (SSD) group from January 2019 to September 2021 in the speech-speech outpatient department of the Children's Hospital Affiliated to Capital Institute of Pediatrics, and 1 179 healthy children who underwent physical examination in the health department during the same period were selected as the control group. All the children were examined by the "Children's Neuropsychological Behavior Scale 2016 Edition" (Children's Mind Scale 2016 edition). Independent sample t test was used to compare the developmental levels of the two groups of children, including total developmental quotient, gross motor, fine motor, adaptive ability, language and social behavior ability. The influential factors of children's speech disorders were analyzed by univariate Chi-square analysis and multivariate logistic regression. Results: There were 395 SSD children, including 296 males and 99 females, 4≤ age ≤6, (4.71±0.76) years. There were 1 179 children in the control group, including 864 males and 315 females, 4≤ age ≤6, (4.64±0.78) years. The mean value of total developmental factors in SSD group was lower than that in control group [(86.45±11.57)/(91.24±8.0), t=-7.78, P<0.01], and the mean values of total developmental markers in both boys and girls in SSD group were lower than those in control group [(86.00±11.40)/(90.78±7.86), t=-6.70, P<0.01; (87.82±12.03)/(92.87±8.49), t=-3.88, P<0.01]. The mean values of gross motor, fine motor, adaptive ability, language ability and social behavior in SSD group were lower than those in control group [(89.76±12.47)/(92.01±10.69), t=-3.21, P<0.01; (80.62±13.64)/(84.49±11.55), t=-5.06, P<0.01; (87.92±15.25)/(92.98±12.06), t=-6.00, P<0.01; (86.48±16.30)/(94.55±12.08), t=-9.04, P<0.01; (87.02±15.18)/(92.63±12.57), t=-6.62, P<0.01]; The mean value of fine motor in boys was lower than that in girls in SSD group [(79.80±13.42)/(83.08±14.05), t=-2.08, P<0.05]. Independent mealtimes. 2 years old (OR=1.527, 95%CI: 1.180-1.977, P=0.001), delay in adding supplemental food (OR=1.510, 95%CI: 1.123-2.029, P=0.006), dialect in the home language environment (OR=1.351, 95%CI: 1.060-1.723, P=0.015) were risk factors for children with speech disorders. Conclusion: Children with speech disorders are more common in boys. The overall development level of SSD children is lower than that of normal children, and the fine motor of SSD boys is lower than that of girls. The incidence of children's speech disorders is related to the addition time of supplementary food, independent meal time and family language environment.


Asunto(s)
Masculino , Femenino , Niño , Humanos , Preescolar , Trastorno Fonológico/diagnóstico , Estudios de Casos y Controles , Trastornos del Habla , Cognición
7.
Acta Pharmaceutica Sinica ; (12): 106-117, 2023.
Artículo en Chino | WPRIM | ID: wpr-964292

RESUMEN

Antibacterial therapy is a global health issue. The antibiotic resistance is becoming an increasingly serious threat, which caused by misuse and overuse of antibacterial agents combined with the emergence of new resistance mechanism. The resulting infection treatment risk and incidence of the spread of disease, severe cases and deaths are increased in different degrees. With the extensive application of biomaterials and nanotechnology to biomedicine, extensive research has been conducted on antibacterial infection. With the specific physicochemical properties like optical, electric and magnetic and high penetration, inorganic nanomaterials can produce natural antibacterial effect. Nanomedicine can be designed to allow controlled drug release and targeting effect, thus demonstrated better antibacterial efficiency. In this review, the mechanism of antibacterial resistance is described, and the antibacterial infection research on inorganic nanomaterials, as well as nano-drug delivery system including liposomes, nanoparticles, dendrimers and biomimetic nanocarriers are summarized. Nanomaterials and nanotechnology offer promising strategies for the development of new agents that can improve efficacy on antibacterial infections and overcome antibiotic resistance potentially.

8.
Chinese Journal of Gastrointestinal Surgery ; (12): 697-700, 2023.
Artículo en Chino | WPRIM | ID: wpr-986839

RESUMEN

Objective: To report the perioperative management and robot-assisted minimally invasive surgery results of one case with malignant tumor of anal canal combined with severe abdominal distention. Methods: A 66-year-old male suffer from adenocarcinoma of anal canal (T3N0M0) with megacolon, megabladder and scoliosis. The extreme distention of the colon and bladder result in severe abdominal distention. The left diaphragm moved up markedly and the heart was moved to the right side of the thoracic cavity. Moreover, there was also anal stenosis with incomplete intestinal obstruction. Preoperative preparation: fluid diet, intravenous nutrition and repeated enema to void feces and gas in the large intestine 1 week before operation. Foley catheter was placed three days before surgery and irrigated with saline. After relief of abdominal distention, robotic-assisted abdominoperineal resection+ subtotal colectomy+colostomy was performed. Results: Water intake within 6 hours post-operatively; ambulance on Day 1; anal passage of gas on Day 2; semi-fluid diet on Day 3; safely discharged on Day 6. Conclusion: Robotic-assisted minimally invasive surgery is safe and feasible for patients with malignant tumor of anal canal combined with severe abdominal distention after appropriate and effective preoperative preparation to relieve abdominal distention.


Asunto(s)
Masculino , Humanos , Anciano , Canal Anal/cirugía , Colon/cirugía , Colectomía , Enfermedades del Ano/cirugía , Adenocarcinoma/cirugía , Anomalías del Sistema Digestivo/cirugía
9.
Sichuan Mental Health ; (6): 71-73, 2023.
Artículo en Chino | WPRIM | ID: wpr-986781

RESUMEN

This paper elaborated a case of an elderly patient with anti-contactin-associated protein-like 2 (CASPR2) antibody-associated autoimmune encephalitis. It illustrated the common manifestations and diagnostic process of anti-CASPR2 antibody-associated encephalitis, and the analysis of clinical symptoms and ancillary findings had contributed to gaining insight into the diagnosis of autoimmune encephalitis in elderly patients characterized by distinct psycho-behavioral abnormalities and cognitive decline, as well as suggesting the possibility that autoimmune encephalitis in elderly may exacerbate the development of cerebrovascular disease.

10.
Chinese Journal of Industrial Hygiene and Occupational Diseases ; (12): 364-366, 2023.
Artículo en Chino | WPRIM | ID: wpr-986014

RESUMEN

Objective: To establish a method for the rapid determination of acetaminophen (APAP) in human plasma by LC-MS/MS. Methods: The plasma samples were extracted by methanol and acetonitrile (1: 1) and purified directly. C(18) column was used for sample separation. The mobile phase were methanol (5 mmol/L ammonium acetate) and water (5 mmol/L ammonium acetate). Samples were analyzed by LC MS/MS with the electrospray ionization multi reaction monitoring (MRM) mode. Results: The calibration curves of APAP was linear in the concentration range of 0~10 mg/L, the correlation coefficient (r) was greater than 0.999 0. The relative standard deviation within and between batches was less than 10%. The recovery rate were 96.81%~101.7%. The detection limit of the method was 0.1 μg/L and the lower limit of quantification was 0.3 μg/L. Conclusion: This method has strong specificity, high sensitivity and reliable determination results. It is suitable for the rapid analysis of clinical plasma samples.


Asunto(s)
Humanos , Cromatografía Liquida/métodos , Acetaminofén , Espectrometría de Masas en Tándem/métodos , Metanol , Cromatografía Líquida de Alta Presión/métodos
11.
Chinese Journal of Pediatrics ; (12): 328-332, 2023.
Artículo en Chino | WPRIM | ID: wpr-985871

RESUMEN

Objective: To investigate the association between screen exposure and language skills in children aged 2-5 years. Methods: There were 299 children aged 2-5 years, recruited by convenience sampling from those who visited the Center of Children's Healthcare, Children's Hospital, Capital Institute of Pediatrics for routine physical examination from November 2020 to November 2021. Their development status were evaluated by the children neuropsychological and behavioral scale (revision 2016). A self-designed questionnaire for parents was conducted to collect demographic and socioeconomic information and screen exposure characteristics (time and quality). One-way ANOVA and independent sample t test were applied to compare the differences in language development quotient of children with different screen exposure time and quality. Multiple linear regression was used to analyze the correlation between screen exposure time and quality with language developmental quotient. Multivariate Logistic regression was used to analyze the risk of language underdevelopment in children with different screen exposure time and quality. Results: Among 299 children, 184 (61.5%) were boys and 115 (38.5%) were girls, with the age of (3.9±1.1) years. The number of children with daily screen time <60, 60-120 and>120 min was 163 children (54.5%), 86 children (28.8%) and 50 children (16.7%), respectively, with the language development quotients of 94±13, 90±13, 84±14, respectively, demonstrating a statistically significant difference (F=8.92, P<0.001). Logistic regression analysis revealed that screen exposure time of 60-120 and >120 min per day were both risk factors for children's language developmental quotients (OR=2.28, 95%CI 1.00-5.17, P=0.043; OR=3.96, 95%CI 1.86-9.17, P<0.001), and co-viewing and exposure to educational programs were both protective factors for children's language developmental quotients (OR=0.48, 95%CI 0.25-0.91, P=0.024, OR=0.36, 95%CI 0.19-0.70, P=0.003). Conclusions: Excessive exposure screen time and inappropriate screen exposure habits are associated with children's poorer language development. Screen exposure time should be limited and screen use should be rational to promote children's language skills.


Asunto(s)
Masculino , Femenino , Humanos , Niño , Encuestas y Cuestionarios , Padres/psicología , Cognición , Factores de Riesgo
12.
Journal of Peking University(Health Sciences) ; (6): 502-510, 2023.
Artículo en Chino | WPRIM | ID: wpr-986882

RESUMEN

OBJECTIVE@#To describe the secular trends of age at menarche and age at natural menopause of women from a county of Shandong Province.@*METHODS@#Based on the data of the Premarital Medical Examination and the Cervical Cancer and Breast Cancer Screening of the county, the secular trends of age at menarche in women born in 1951 to 1998 and age at menopause in women born in 1951 to 1975 were studied. Joinpoint regression was used to identify potential inflection points regarding the trend of age at menarche. Average hazard ratios (AHR) of early menopause among women born in different generations were estimated by performing multivariate weighted Cox regression.@*RESULTS@#The average age at menarche was (16.43±1.89) years for women born in 1951 and (13.99±1.22) years for women born in 1998. The average age at menarche was lower for urban women than that for rural women, and the higher the education level, the lower the average age at menarche. Joinpoint regression analysis identified three inflection points: 1959, 1973 and 1993. The average age at menarche decreased annually by 0.03 (P < 0.001), 0.08 (P < 0.001), and 0.03 (P < 0.001) years respectively for women born during 1951-1959, 1960-1973, and 1974-1993, while it remained stable for those born during 1994-1998 (P=0.968). As for age at menopause, compared with women born during 1951-1960, those born during 1961-1965, 1966-1970 and 1971-1975 showed a gradual decrease in the risk of early menopause and a tendency to delay the age at menopause. The stratified analysis presented that the risk of early menopause gradually decreased and the age of menopause showed a significant delay among those with education level of junior high school and below, but this trend was not obvious among those with education level of senior high school and above, where the risk of early menopause decreased and then increased among those with education level of college and above, and the corresponding AHRs were 0.90 (0.66-1.22), 1.07 (0.79-1.44) and 1.14 (0.79-1.66).@*CONCLUSION@#The age at menarche for women born since 1951 gradually declined until 1994 and leveled off, with a decrease of nearly 2.5 years in these years. The age at menopause for women born between 1951 and 1975 was generally delayed over time, but the trend of first increase and then decrease was observed among those with relatively higher education levels. In the context of the increasing delay in age at marriage and childbearing and the decline of fertility, this study highlights the necessity of the assessment and monitoring of women' s basic reproductive health status, especially the risk of early menopause.


Asunto(s)
Femenino , Humanos , Anciano , Menarquia , Menopausia , Análisis de Regresión , Fertilidad , China/epidemiología , Factores de Edad
13.
Chinese Journal of Behavioral Medicine and Brain Science ; (12): 77-81, 2022.
Artículo en Chino | WPRIM | ID: wpr-931905

RESUMEN

Objective:To investigate the correlation between heart rate variability (HRV) and symptom severity in patients with somatic symptom disorder (SSD).Methods:Thirty-three patients with somatic symptom disorder (SSD group) who were outpatients or inpatients in Sichuan Provincial People′s Hospital from May 2020 to December 2020 and thirty-three gender-and age-matched healthy controls (HC group) were selected. The patient health questionnaire (PHQ-9), generalized anxiety disorder scale (GAD-7), patient health questionnaire PHQ-15 were applied to assess the severity of depression, anxiety and somatic symptoms in both groups. The somatic system disorder-B criteria scale (SSD-12) and the Whiteley-8 Scale (WI-8) were selected to assess the severity of symptom in SSD. All subjects underwent HRV measurement within one week of enrollment. The differences of HRV between the two groups were compared and the correlation between HRV and symptom severity were analyzed. Independent samples t-test was used for comparison between groups, and Pearson correlation analysis was used for correlation analysis between HRV index and symptom severity. Results:The levels of GAD-7, PHQ-9 and PHQ-15 in SSD group(5.0(2.0, 10.5), 8.0(3.5, 13.0), 11.0(8.0, 15.0)) were significantly higher than those in HC group (1.0(0, 2.0), 0(0, 2.0), 3(0, 6.0)), and the differences were statistically significant (all P<0.05). The SDNN ((25.41±11.24)ms), lnLF ((1.91±0.50)ms 2) and lnTP ((2.65±0.43)ms 2) in the SSD group were lower than those in the HC group ((32.87±12.01)ms, (2.27±0.43)ms 2, (2.93±0.32)ms 2), and the differences were statistically significant( t=-2.605, -3.160, -2.883, all P<0.05). RMSSD of SSD patients was negatively correlated with GAD-7, PHQ-9, and behavioral and cognitive factor scores of SSD-12 ( r=-0.360--0.404, P<0.05), lnHF was negatively correlated with GAD-7, PHQ-9 and behavioral factor scores of SSD-12 scores ( r=-0.491--0.402, all P<0.05), and lnLF/HF was positively correlated with PHQ-9 ( r=0.413, P<0.05) and lnTP was positively correlated with GAD-7 ( r=0.383, P<0.05). Conclusion:HRV is reduced in SSD patients and correlated with symptom severity, indicating the clinical potential of HRV index as a biological marker of SSD.

14.
Journal of Experimental Hematology ; (6): 206-210, 2022.
Artículo en Chino | WPRIM | ID: wpr-928694

RESUMEN

OBJECTIVE@#To investigate the incidence and types of thalassemia in Xiangxi Tujia and Miao Autonomous Prefecture.@*METHODS@#Automatic capillary electrophoresis was used to screen the thalassemia phenotypes of 22 940 blood samples of pregnant women and puerperants collected in our hospital and some other medical institutions in the prefecture during 2017-2019, among which there were 3 356 cases of Tujia ethnicity, 2 821 cases of Miao ethnicity, and 2 233 cases of Han ethnicity included, whose ethnicity were indicated. The samples with positive result would undergo further genetic testing.@*RESULTS@#There were 2 314 cases of suspicious thalassemia were screened from 22 940 cases by the electrophoresis, thus the positive rate was 10.1% (hematological phenotypes from some other institutions were not included). Specifically, there were 1 706 cases with HBA2 less than 2.5%, 255 cases with HBA2 ranged from 2.5% to 3.5%, which displayed abnormal hematology (MCV or/and MCH) or other abnormal bands, and 353 cases with HBA2>3.5%. There were 436 suspected positive patients in 2 314 suspicious samples received further thalassemia gene testing in our hospital, among them 48 cases were diagnosed with α-thalassemia, 85 cases with β-thalassemia, and 2 cases as compound type. The positive diagnosis rate of α-thalassemia gene test was 11.0%, β-thalassemia was 19.4%, and positive pregnant women was 31.0%.@*CONCLUSION@#The positive rate of thalassemia screening in Xiangxi Autonomous Prefecture is roughly the same as that in other regions of Hunan. The positive predictive value of β-thalassemia screening is as high as 86%. Compared with the missed screening data, it is recommended to use hematology (MCV, MCH) method combined with capillary hemoglobin electrophoresis for thalassemia screening.


Asunto(s)
Femenino , Humanos , Embarazo , Etnicidad , Pruebas Genéticas , Hemoglobina A2/análisis , Mujeres Embarazadas , Talasemia alfa/genética , Talasemia beta/genética
15.
Chinese Journal of Industrial Hygiene and Occupational Diseases ; (12): 219-221, 2022.
Artículo en Chino | WPRIM | ID: wpr-935780

RESUMEN

Objective: To establish a method for rapid determination of bongkrekic acid (BA) in plasma by high performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS). Methods: In November 2020, plasma samples were extracted by methanol and acetonitrile (1∶1) and purified directly. The samples were separated by C18 column. Gradient elution was carried out with 5 mmol/L ammonium acetate water acetonitrile solution as mobile phase. Under the optimized instrument conditions, the electrospray ionization multiple reaction monitoring (MRM) mode was used, and the external standard method was used for quantitative analysis. Results: The linear relationship of BA in plasma was good in the concentration range of 2-100 μg/L, the correlation coefficient was 0.9998, the average recovery was 83.7%-112.0%, the relative standard deviation within and between batches was less than 10%, the detection limit of the method was 0.7 μg/L and the lower limit of quantification was 2.0 μg/L. Conclusion: The method is simple, rapid, accurate and sensitive, and can meet the requirements for the determination of BA in blood samples of poisoning patients.


Asunto(s)
Humanos , Ácido Bongcréquico , Cromatografía Líquida de Alta Presión , Extracción en Fase Sólida , Espectrometría de Masas en Tándem
16.
Chinese Journal of Biochemistry and Molecular Biology ; (12): 175-181, 2022.
Artículo en Chino | WPRIM | ID: wpr-1015751

RESUMEN

MicroRNA (miRNA) is a class of endogenous non-coding single-stranded RNA molecules with a length of about 16 ~ 29 nucleotides. Widely found in eukaryotes, they play important regulatory roles in plant cell proliferation and differentiation, organ formation, metabolism, resistance to salt, temperature, drought, heavy metal stress, etc. Plant miRNA mainly affects plant growth and development by degrading target genes or inhibiting the expression of target genes at the translation level. At present, the research on the production and regulation of miRNA is relatively clear, and the specific roles and regulatory networks of miRNA in plant secondary metabolism and response to abiotic stress have also been identified, which lays the foundation for a full understanding of the molecular regulation of miRNA. In order to better understand the expression and regulation characteristics of miRNA and to interpret the regulatory network of miRNA in plant secondary metabolism and abiotic stress response, we review the molecular mechanisms of plant miRNAs in regulating the biosynthesis of various secondary metabolites(flavonoids, terpenoids, alkaloids) and responding to environmental stress (salt, high temperature, low temperature, drought, heavy metal stress),and summarize the regulatory roles of miRNA in secondary metabolism and abiotic stress, which will provide references for understanding the relationship between environmental stress and plant metabolism, for further studying the regulatory mechanism of miRNA in maintaining plant homeostasis, and for cultivating superior crop varieties.

17.
Chinese Journal of Blood Transfusion ; (12): 227-232, 2022.
Artículo en Chino | WPRIM | ID: wpr-1004352

RESUMEN

Plasma protein products, essential drugs for various clinical diseases, are therapeutic biological products extracted from healthy human plasma. The research and development of new plasma protein products, led by United States and European, has been widely deepened and enhanced. Therefore, accelerating the development of new plasma protein products in China is of great significance. This review summarizes the research and development of plasma protein products that have been marketed abroad but have not produced in China, as well as analyzes the difficulties and prospects of the development of plasma protein products in China.

18.
Chinese Journal of Blood Transfusion ; (12): 396-399, 2022.
Artículo en Chino | WPRIM | ID: wpr-1004274

RESUMEN

【Objective】 To establish a method for detecting human immunoglobulin Fc function based on surface plasmon resonance technology. 【Methods】 Based on the characteristic that FcγRI can be binded to the Fc segment of IgG, the affinity constant of the sample was detected by surface plasmon resonance, and its Fc function was the KD ratio of the sample to the standard. The method was validated for specificity/specificity, precision and robustness. The method and the pharmacopoeia method were used to detect the Fc function of 30 human immunoglobulins, and the correlation and consistency of the detection results were analyzed. 【Results】 The method validation results showed that this method has strong specificity/specificity (t values were 0.15, 0.22, both P>0.05), good precision (CV value 5.37%~10.69%) and good robustness (CV value 10.06%). The detection results of this method and the pharmacopoeia method have high correlation (r=0.96, P<0.05) and high consistency (Bias-2.060, 95% Limits of Agreement-5.628~1.508). 【Conclusion】 A method for detecting human immunoglobulin Fc function based on surface plasmon resonance has been successfully established.

19.
Journal of Central South University(Medical Sciences) ; (12): 1683-1688, 2022.
Artículo en Inglés | WPRIM | ID: wpr-971351

RESUMEN

OBJECTIVES@#Occult cervical lymph node metastasis is the most important reason for recurrence of early-stage tongue cancer and oropharyngeal cancer. Cervical sentinel lymph node (SLN) biopsy may help to identify them. Pigment dyes and radionuclide were used to label SLN. Both of them had shortage. This study aims to investigate the application and clinical value of indocyanine green fluorescence imaging in cervical SLN biopsy for patients with early-stage tongue cancer and oropharyngeal cancer.@*METHODS@#Retrospective analysis was conducted on 23 patients with early tongue cancer and oropharyngeal cancer, who received surgical treatment and used indocyanine green as a tracer to find SLN in Hunan Cancer Hospital from April to October 2021. The detection rate of SLN was calculated and the distribution of SLN in different regions of the neck was analyzed.@*RESULTS@#SLN was successfully identified in 22 of 23 patients, with a detection rate of 95.65%. Among these 22 patients, 3 patients were found to have cancer metastasis, and the rate of occult lymph node metastasis was 13.63%. No pathologically positive lymph nodes were detected in SLN-negative patients, and thus the positive predictive rate was 100%. For patients with primary lesions located in the anterior 2/3 of the tongue, the constituent ratios of SLN in neck area I, II, III, and IV were 15.15%, 71.72%, 13.13%, and 0, respectively. For patients with primary lesions located in base of the tongue, the constituent ratios of SLN in neck area I, II, III, and IV were 0, 44.44%, 44.44%, and 11.12%, respectively.@*CONCLUSIONS@#Indocyanine green fluorescence imaging has a high detection rate with accurate positive prediction in the anterior cervical SLN biopsy in patients with early-stage tongue cancer and oropharyngeal cancer. Meanwhile, it can also reflect the lymphatic drainage of tumors located at different primary sites, which has high clinical value.


Asunto(s)
Humanos , Biopsia del Ganglio Linfático Centinela/métodos , Verde de Indocianina , Metástasis Linfática/patología , Neoplasias de la Lengua/cirugía , Estudios Retrospectivos , Ganglios Linfáticos/patología , Neoplasias Orofaríngeas/cirugía , Lengua
20.
Chinese Pediatric Emergency Medicine ; (12): 321-325, 2022.
Artículo en Chino | WPRIM | ID: wpr-930854

RESUMEN

Antibiotics are the most commonly used medicines in PICU.For children with severe infection, it is very important to ensure the curative effect of patients and reduce the adverse effects of antibiotic abuse through reasonable empirical initial use of antibiotics, timely evaluation and regulation, and appropriate course of antibiotic treatment.This review discussed several main problems of clinical application of antibiotics in PICU, in order to help clinicians in PICU improve the evaluation and management of antibiotics use.

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