Objective:To explore the characteristics of bone marrow morphology and the phenotypic features involved in the flow cytometry (FCM)-based erythroid scoring system in low-risk myelodysplastic syndromes (MDS).Methods:A retrospective case series study was conducted. The clinical data of 13 low-risk MDS patients and 20 non-MDS patients (including 8 cases of iron deficiency anemia, 5 cases of thrombocytopenia, 3 cases of infectious diseases, and 4 cases of leukopenia) collected from outpatient or inpatient samples of multiple hospitals from March 2019 to December 2023 were retrospectively analyzed. The bone marrow morphology examination was performed using Wright-Giemsa staining; the immunophenotypic profiles of erythroblasts were evaluated by FCM; G-banding technique was used to analyze the chromosome karyotypes; next-generation sequencing technology was used for molecular biology detection.Results:Among the 13 low-risk MDS patients, there were 6 males and 7 females, with a median age of 61 years (IQR 15 years). Bone marrow morphological examination showed that the dysplastic hematopoietic morphology of erythroblasts was observed in the bone marrow of 13 low-risk MDS patients, with abnormal nuclear morphology such as odd nuclei, mother-daughter nuclei, petal nuclei, inter-nuclear bridges, multinucleated giants (including abnormal pentanucleated forms), and small megakaryocytes; pathological hematopoiesis in bone marrow accounted for 10%-15% of the erythroblasts system; FCM detection showed that the myeloid primitive cells occupied 0-1.2% of nuclear cells in the bone marrow of low-risk MDS group, expressing CD117, HLA-DR and CD33, partially expressing CD34 and CD38, and not expressing CD19, CD56 and CD7; the developmental pattern of granulocyte CD13/CD16/CD11b was basically normal; partial expression of CD36 and CD71 in erythroblasts was missing. The expression of CD36 and CD71 in erythroblasts of non-MDS group was normal. The expression rates of CD36 in low-risk MDS group and non-MDS group were (51.57±0.13)% and (93.50±0.03)%, respectively ( t = -6.32, P < 0.001), while the expression rates of CD71 were (22.24±0.05)% and (87.94±0.04)%, respectively ( t = -9.47, P < 0.001), with statistically significant differences. The coefficient of variation (CV) of mean fluorescence intensity of CD36 in low-risk MDS group and non-MDS group were 155±8 and 57±10, respectively ( t = 29.18, P < 0.001), and the CV of mean fluorescence intensity of CD71 was 204±33 and 56±6, respectively ( t = 19.43, P <0.001), with statistically significant differences. Among 13 low-risk MDS patients, 4 had abnormal bone marrow chromosome karyotypes, including -7, 8, del(20q), -Y, +15, etc; 5 cases had clonal gene mutations detected by next-generation sequencing, such as ASXL1, SRSF2, TET2, DNMT3A, etc; no 5q-, SF3B1 or TP53 gene mutation was detected. Patients were followed up until December 2023, among the 13 low-risk MDS patients, 7 cases achieved good clinical efficacy, 2 cases transformed into high-risk MDS with excess blasts after 1 year, 3 cases transformed into acute myeloid leukemia M 2 2 years later, and the treatment efficacy of 1 case was unknown. Conclusions:Low-risk MDS patients have pathological hematopoiesis of erythroblasts morphologically. FCM detection shows abnormal developmental patterns of erythroblasts combined with elevated CV of average fluorescence intensity, and often accompanied by genetic abnormalities.

OBJECTIVE: To estimate the social and economic burden of Downs syndrome for patients and their families residing in Changsha, China. METHODS: An 160-item self-administered questionnaire was designed and distributed to the primary caregivers of the patients in March 2020. A total of 81 eligible participants had completed the questionnaire, among which 20 were excluded for incomplete data. A patient perspective was taken to estimate the economic burden of the disease. The social impact of the disease on the patient's family was evaluated through questions adapted from the Stanford Psychological Wellbeing (PWB) Scale. RESULTS: The estimated life-course cost of a Downs syndrome patient in Changsha is 4 985 659 RMB, with the patient and caregiver's loss of income taking the greater proportion. In addition, as the majority of the patients' primary caregivers, female caregivers experienced not only considerable financial hardship caused by the care provision, but also a significant amount of psychological pressure and social discrimination. CONCLUSION Increased level of social welfare for the patients and social support for their female caregivers are essential for reducing economic burden and improving their quality of life in the area. In addition, prenatal screening and diagnosis for Downs syndrome are important for reducing both the social and economic burden of the disease by preventing its occurrence.
Caregivers ; China ; Down Syndrome ; Female ; Financial Stress ; Humans ; Quality of Life ; Social Discrimination ; Surveys and Questionnaires

Objective To study the predictive values of the general movements (GMs) assessment in writhing stage for motor development outcomes in infants with severe neonatal jaundice.Method From December of 2012 to December of 2017,infants with severe neonatal jaundice (serum bilirubin reaching the corresponding level of exchange transfusion according to the reference nomogram) in our hospital were enrolled in the study.Inclusion criteria included corrected gestational age of 37 to 48 weeks,serum bilirubin level below phototherapy intervention value after treatment and general and detailed assessment were carried out in writhing stage when the infant was stable.The patients were regularly followed-up until one-year-old to evaluate the predictive values.Result A total of 241 patients with severe neonatal jaundice were enrolled in the study,including 153 males (63.5％) and 88 females (36.5％),with gestational age between 35 and 42 weeks.The mean gestational age was (37.9± 1.8) weeks,the average birth weight was (3 057±480) g,and the mean serum bilirubin value was (458.9± 119.1) μmol/L.The general evaluation of the GMs was normal in 15 cases (6.2％),and abnormal in 226 cases (93.8％) with 217 cases (90.0％) were poor repertoire (PR) and 9 cases (3.7％) were cramped-synchronized (CS).The predictive values of abnormal GMs for abnormal motor development outcomes were as following:sensitivity 100％,specificity 7.6％,negative predictive value(NPV) 100％.The predictive values of CS for cerebral palsy were as following:sensitivity 22.2％,specificity 97.8％,NPV 94.0％.Detailed evaluation of 241 subjects showed that 13 items had statistically significant differences in the prediction of cerebral palsy (P＜0.05),and 18 items in the prediction of abnormal motor development (P＜0.05).Conclusion The CS pattern and detailed assessment of GMs in the writhing stage may be correlated with the outcomes of motor development in infants with severe neonatal jaundice until one-year-old.

Objective To investigate the effect and the mechanism of parecoxib sodium pretreatment on permeability of blood-brain barrier in a rat model of focal cerebral ischemia-reperfusion injury.Methods Sixty male SD rats weighing 300g were randomly divided into 5 groups (n=12 each):sham operation group (group S);focal cerebral I/R group (group I/R);parecoxib sodium 5 mg/kg pretreatment group (group L);parecoxib sodium7.5mg/kg pretreatment group (group M);parecoxib sodium 10 mg/kg pretreatment group (group H) Middle cerebral artery occlusion models were made by reforming Longa suture method in SD rats.Thirty minutes before ischemia,rats in group L,M and H were injected with 5 mg/kg、7.5 mg/kg and 10 mg/kg parecoxib sodium through the internal jugular vein.Group S and group I/R received equal volume of normal saline.ELISA technique was used to determine the content of S100 β,TNF-α,IL-1 β in Plasma.The changes of cerebral water content and the Evans Blue exudation from brain capillaries were observed.Results Pretreated with parecoxib sodium (5mg/kg、7.5 mg/kg and 10 mg/kg),the content of S100 β,TNF-α,II-1 β in plasma were reduced.The cerebral water content and the EB in brain were reduced.Pretreated with parecoxib sodium 10 mg/kg,Longa scores were reduced.Conclusion Pretreatment with Parecoxib can protect blood-brain barrier against focal cerebral I/R injury by inhibition of the inflammatory reaetion.

Humans ; Infant, Newborn ; Neonatal Abstinence Syndrome ; complications ; diagnosis ; Retinopathy of Prematurity ; complications ; diagnosis