Objective:To explore the plasma metabolomic characteristics of children with transfusion-dependent thalassemia(TDT),and reveal the changes of metabolic pattern in children with TDT.Methods:23 children with TDT who received regular blood transfusion in Ganzhou Women and Children's Health Care Hospital in 2021 were selected,and 11 healthy children who underwent physical examination during the same period were selected as the control group.The routine indexes between children with TDT and the control group were compared,and then the metabolic composition of plasma samples from children with TDT and the control group was detected by liquid chromatography-mass spectrometry.An OPLS-DA model was established to perform differential analysis on the detected metabolites,and the differential metabolic pathways between the two groups were analyzed based on the differential metabolites.Results:The results of routine testing showed that the indexes of ferritin,bilirubin,total bile acid,glucose and triglycerides in children with TDT were significantly higher than those in healthy controls,while hemoglobin and total cholesterol were significantly lower(all P＜0.05).However there was no significant difference in lactate dehydrogenase between the two groups(P＞0.05).Compared with the control group,190 differential metabolites(VIP＞1)were identified in TDT children.Among them,168 compounds such as arginine,proline and glycocholic acid were significantly increased,while the other 22 compounds such as myristic acid,eleostearic acid,palmitic acid and linoleic acid were significantly decreased.The metabolic pathway analysis showed that the metabolic impact of TDT on children mainly focused on the upregulation of amino acid metabolism and downregulation of lipid metabolism.Conclusion:The amino acid and lipid metabolism in children with TDT were significantly changed compared with the healthy control group.This finding is helpful to optimize the treatment choice for children with TDT,and provides a new idea for clinical treatment.

Child ; Humans ; Intracellular Signaling Peptides and Proteins ; Mutation ; Pancytopenia

Objective: To observe the incidence and treatment of radiation rectal injury complicated with anxiety, depression and somatic symptom disorder. Methods: A cross-sectional survey research method was carried out. Patients with radiation rectal injury managed by members of the editorial board of Chinese Journal of Gastrointestinal Surgery were the subjects of investigation. The inclusion criteria of the survey subjects: (1) patients suffered from pelvic tumors and received pelvic radiotherapy; (2) colonoscopy showed inflammatory reaction or ulcer in the rectum. Exclusion criteria: (1) patient had a history of psycho-somatic disease before radiotherapy; (2) patient was unable to use a smart phone, unable to read and understand the questions in the questionnaire displayed on the phone; (3) patient refused to sign an informed consent form. According to the SOMA self-rating scale, PHQ-15 self-rating scale, GAD-7 and PHQ-9 self-rating scale, the electronic questionnaire of "Psychological Survey of Radiation Proctitis" was designed. The questionnaire was sent to patients with radiation rectal injury managed by the committee through the WeChat group. Observational indicators: (1) radiation rectal injury symptom assessment: using SOMA self-rating scale, radiation rectal injury symptom classification: mild group (≤3 points), moderate group (4-6 points) and severe group (> 6 points); (2) incidence of anxiety, depression and physical disorder: using GAD-7, PHQ-9 and PHQ-15 self-rating scales respectively for assessment; (3) correlation of radiation rectal injury symptom grading with anxiety, depression, and somatic symptom disorder. Results: Seventy-one qualified questionnaires were collected, of which 41 (56.9%) were from Guangzhou. Among the 71 patients, 6 were males and 65 were females; the mean age was (55.7±9.3) years old and 48 patients (67.6%) were less than 60 years old; the median confirmed duration of radiation rectal injury was 2.0 (1.0, 5.0) years. (1) Evaluation of symptoms of radiation rectal injury: 18 cases of mild (25.4%), 27 cases of moderate (38.0%), and 26 cases of severe (36.6%). (2) Incidence of anxiety, depression and somatic disorder: 12 patients (16.9%) without comorbidities; 59 patients (83.1%) with anxiety, depression, or somatic disorder, of whom 2 patients only had anxiety, 1 patient only had depression, 9 only had somatic disorder, 2 had anxiety plus depression, 4 had anxiety plus somatic disorder, 2 had depression plus somatic disorder, and 40 had all three symptoms. (3) correlation of radiation rectal injury grading with anxiety, depression, and somatic symptom disorder: as compared to patients in mild group and moderate group, those in severe group had higher severity of anxiety and somatic symptom disorder (Z=-2.143, P=0.032; Z=-2.045, P=0.041), while there was no statistically significant difference of depression between mild group and moderate group (Z=-1.176, P=0.240). Pearson correlation analysis revealed that radiation rectal injury symptom score was positively correlated with anxiety (r=0.300, P=0.013), depression (r=0.287, P=0.015) and somatic symptom disorder (r=0.344, P=0.003). Conclusions: The incidence of anxiety, depression, and somatic symptom disorder in patients with radiation rectal injury is extremely high. It is necessary to strengthen the diagnosis and treatment of somatic symptom disorder, so as to alleviate the symptoms of patients with pelvic perineum pain and improve the quality of life.
Aged ; Anxiety ; Cross-Sectional Studies ; Depression ; Female ; Humans ; Male ; Middle Aged ; Quality of Life ; Rectum ; Surveys and Questionnaires

Objective To examine the impact of pregnancy termination before 28 weeks of gestation on the overall prevalence of neural tube defects (NTDs).Methods Data collected during the period of 2004 and 2010 from a birth defects surveillance system in Pingding county and Talgu county of Shanxi province were used.Number of births ≥28 weeks of gestation and number of cases with major birth defects among the births were collected.Terminations of pregnancies before 28 weeks of gestation due to prenatal diagnosis were also collected.The total prevalence of neural tube defects,prevalence before 28 weeks of gestation,and prevalenee of ≥28 weeks gestation were calculated using the total number of pregnancies of ≥28 weeks of gestation as denominator.The prevalence data were compared to examine the impact of pregnancy termination on the total prevalence.The proportions of pregnancy terminations before 28 weeks of gestation due to prenatal diagnosis of an NTD against the total number of NTD cases were also calculated.Results During 2004-2010,52 366 births were recorded,and 485 NTD cases were ascertained.The overall prevalence of NTDs was 92.6 per 10 000 births,with prevalence of ＜28 weeks gestation due to pregnancy terminations as 60.9 per 10 000 births,while the prevalence of ≥28 weeks of gestation was 31.7 per 10 000 births.NTD prevalence of ≥28 weeks gestation was 66.0％ lower than the total NTD prevalence.In the last two years,the proportion of NTDs ascertained ≥28 weeks gestation accounted for about 40.0％ of the total NTD cases.Conclusion A birth-defect-surveillance program that covered only tregnancies ≥28 weeks of gestation resulted in a severe underestimation of the total birth prevalence of NTDs,especially for anencephaly.We would recommend that the current national birth defects surveillance system should include pregnancy terminations before 28 weeks of gestation and the calculation of total NTD prevalence should also include these cases into the numerator,so as to better estimate true population NTD prevalence,upon which the related public health policy is based.

BACKGROUNDMaternal exposure to nitrate, nitrite, and N-nitroso compounds from drinking water or diet has been associated with an increased risk of neural tube defects (NTDs) in some studies. Pickled vegetables contain relatively large amounts of nitrite and N-nitroso compounds. We examined the association between maternal periconceptional consumption of pickled vegetables and NTDs in Shanxi Province of northern China.

METHODSData were derived from a population based case-control study of major external birth defects in four counties of Shanxi Province. Participants included 519 NTDs cases identified between 2003 and 2007 and 694 healthy controls. Exposure information was collected within 1 week after delivery. Multivariable non-conditional Logistic regression model was used to estimate the adjusted odds ratio (OR) controlling for potential confounding variables.

RESULTSThe risk of NTDs was positively associated with the frequency of the consumption of pickled vegetables by the mother. Compared with pickled vegetables consumption at < 1 meal/week, the adjusted OR for consumption at 1 - 3, 4 - 6, and > 6 meals/week were 1.3 (95% confidence interval (CI): 1.0, 1.8), 1.9 (1.1, 3.2), and 3.6 (1.9, 6.9), respectively. A protective effect was found for maternal meat consumption at ≥ 1 meal/week (adjusted OR: 0.6, 95%CI: 0.4, 0.7) and egg or milk consumption at ≥ 1 meal/week (adjusted OR: 0.6, 95%CI: 0.4, 0.8).

CONCLUSIONMaternal periconceptional consumption of pickled vegetables may increase the risk for NTDs in Shanxi Province.

Adult ; Case-Control Studies ; Female ; Humans ; Infant, Newborn ; Logistic Models ; Maternal Exposure ; adverse effects ; Multivariate Analysis ; Neural Tube Defects ; etiology ; Nitrites ; adverse effects ; Nitroso Compounds ; adverse effects ; Pregnancy ; Risk Factors ; Vegetables ; adverse effects ; chemistry ; Young Adult

In this article, we presented the rationale and calculation procedures of the propcnsity score matching (PSM), and its application in the designing stage of an cpidcrniological study. Based on existing observational data, PSM can be used to select one or more comparable controls for each subject in 'treatment' group according to the propensity scores estimated by 'treatment' variable and main covariates. The results of an example analysis showed that the bias for main confounders between the treated and control samples declined more than 55% after PMS. Conclusion: PSM can reduce most of the confounding bias of the observational study, and can obtain approximate study effect to the randomized controlled trials when used in the designing of thc cpidcmiological study.

Objective To explore the relationship between maternal passive smoking during early pregnancy and the risk of neural tube defects (NTDs). Methods Data was derived from a populationbased case-control study on birth defects in Shanxi province. The study subjects included 515 NTDs defects cases (236 cases of anencephaly, 237 spina bifida and 42 encephalocele) ascertained during January 2003 and June 2007 in the study areas and 682 normal controls randomly selected in the same residence during the same period as cases. Results The risk of NTDs in their offspring was 1.84 (95 % CI : 1.39-2.44) for mothers with passive smoking history during peri-conceptional period. There was a marked dose-response relation between maternal passive smoking and the risk of NTDs in offspring. Compared to the women without passive smoking, the NTDs risk in offspring was 1.51 for women with occasional passive smoking and 2.44 for women with passive smoking for almost everyday during the peri-conceptional period.Conclusion Maternal passive smoking during peri-conceptional period increased the risk of NTDs in offspring.

OBJECTIVETo study the relationship between estrogen receptor beta gene (ER beta) polymorphism and unknown aetiology hypomenorrhea in Southwestern China .

METHODSOne hundred eumenorrhea women were chosen as control group and another 100 hypomenorrhea patients as case group from Southwestern China. Restriction fragment length polymorphism (RFLP) of the Rsa I and Alu I in ER beta gene was analysed. The ER beta gene polymorphism genotype distribution in case group and control group was compared.

RESULTSR allele frequency in case and control groups was 37.5% and 48.5% respectively, the OR was 0.64 (95%CI: 0.42-0.97), P= 0.026. A allele frequency in case and control groups was 18.0% and 11.5% respectively, the OR was 1.69 (95%CI: 0.93-3.09), P= 0.07. RFLP of Rsa I and Alu I in both groups were distributed with polymorphism.

CONCLUSIONERbeta gene polymorphism has a relation with unknown aetiological hypomenorrhea. R allele may be the guard factor, and A allele may be its risk factor.

Adult ; Binding Sites ; genetics ; Deoxyribonucleases, Type II Site-Specific ; metabolism ; Estrogen Receptor beta ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Menstruation Disturbances ; etiology ; genetics ; Polymerase Chain Reaction ; Polymorphism, Genetic ; genetics ; Polymorphism, Restriction Fragment Length ; Young Adult