OBJECTIVE: This study was aimed at investigating the carrier rate of, and molecular variation in, α- and β-globin gene mutations in Hunan Province. METHODS: We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province. Hematological screening was performed, and molecular parameters were assessed. RESULTS: The overall carrier rate of thalassemia was 7.1%, including 4.83% for α-thalassemia, 2.15% for β-thalassemia, and 0.12% for both α- and β-thalassemia. The highest carrier rate of thalassemia was in Yongzhou (14.57%). The most abundant genotype of α-thalassemia and β-thalassemia was -α ^3.7/αα (50.23%) and β ^IVS-II-654/β ^N (28.23%), respectively. Four α-globin mutations [CD108 (ACC>AAC), CAP +29 (G>C), Hb Agrinio and Hb Cervantes] and six β-globin mutations [CAP +8 (C>T), IVS-II-848 (C>T), -56 (G>C), beta nt-77 (G>C), codon 20/21 (-TGGA) and Hb Knossos] had not previously been identified in China. Furthermore, this study provides the first report of the carrier rates of abnormal hemoglobin variants and α-globin triplication in Hunan Province, which were 0.49% and 1.99%, respectively. CONCLUSION Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population. The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.
Humans ; beta-Thalassemia/genetics* ; alpha-Thalassemia/genetics* ; Hemoglobinopathies/genetics* ; China/epidemiology* ; High-Throughput Nucleotide Sequencing

Objective: To investigate the pathological characteristics of singleton placenta with abnormal shape and its influence on the outcome of maternal-fetal pregnancy. Methods: The clinicopathological data of singleton placentas with abnormal shape from January 2014 to December 2020 in the Department of Pathology, Haidian Maternal and Children Health Hospital were analyzed retrospectively. Results: There were 130 singleton placentas with abnormal shape in this cohort, including 48 succenturiate placentas, 12 bilobed placentas, 50 marginate placentas, 13 circumvallate placentas, 3 annular placentas, 2 membranous placentas and 2 fenestrated placentas. Gestational age ranged from 29⁺⁵ to 40⁺⁴ weeks. There were 51 cases of premature rupture of membranes, 11 cases of placenta previa, 5 cases of placental abruption, 15 cases of placental adhesion/implantation and 27 cases of postpartum hemorrhage. There were 46 preterm fetuses,28 fetuses with fetal growth restriction, 22 fetuses with intrauterine distress, and 1 fetus with intrauterine death. Grossly, the placental lobules of succenturiate placentas had apparent size difference, while two lobules of bilobate placenta were more consistent. The chorionic plate size was smaller than the bottom plate of circumvallate placenta, the folded fetal membrane in the rim of placenta was thickened (termed marginate placenta if there was no thickening). The membranous placenta was characterized by a thin, large membrane-like shape. Annular placenta showed characteristic hollow cylinder, ring or horseshoe-shape. Fenestrated placenta was characterized by tissue defects near central area. Microscopically, functional/morphologic changes were the main manifestations of inadequate maternal-fetal perfusion, including villous infarction, distal villous dysplasia and excessive villous maturation. Conclusions: The abnormal shaped singleton placentas showed variable extent of inadequate maternal-fetal perfusion, which may lead to adverse pregnancy outcomes such as premature delivery, fetal growth restriction, intrauterine distress or fetal death.
Child ; Female ; Fetal Growth Retardation ; Gestational Age ; Humans ; Infant ; Infant, Newborn ; Placenta ; Placenta Diseases ; Pregnancy ; Retrospective Studies

Objective: To summarize the clinicopathological factors related to perinatal fetal death and to evaluate importance of fetal autopsy and placental pathology. Methods: The clinicopathological data of 105 perinatal fetal deaths in Beijing Haidian Maternal and Child Health Hospital from November 2012 to December 2020 were retrospectively analyzed. Relevant literature was also reviewed. Results: The maternal age of the deceased fetuses ranged from 22 to 43 years with the average (31.35±4.04 years), and the gestational weeks were 28-40⁺⁶ weeks. Among them, 101 were singleton cases and 4 twin cases. 103 fetuses died in uterus and 2 died during delivery. Relevant factors analysis of the 105 perinatal fetal deaths showed that 86 cases (81.9%, 86/105) were related to umbilical cord/placental abnormality, 10 cases (9.5%, 10/105) uterine infection, 6 cases (5.7%, 6/105) fetal factors, 1 case was fetal maternal blood transfusion syndrome, 1 case twin blood transfusion syndrome, and 1 case died of complete uterine rupture. Among the 86 cases related to umbilical cord/placental abnormality, the diagnosis was most often based on the gross examination of placenta. The most common cause of death was umbilical cord torsion with thin root, followed by placental abruption, tight umbilical cord winding, vascular rupture and umbilical cord true knot. The morphology of placenta revealed mainly functional changes. Among the 10 cases related to intrauterine infections, the placenta generally showed lobular placental edema. The morphological characteristics of ascending infection were mainly acute chorioamnionitis, and the morphological characteristics of blood-borne infection were mainly acute or chronic villitis, as well as villous interstitial inflammation. Identification of viral inclusions suggested viral etiology, while the final diagnosis was relied on laboratory testing. Among the 6 cases related to fetal abnormality, the diagnostic value of placenta was limited and the diagnosis could be made with fetal autopsy. Conclusion: The causes of perinatal fetal death are complex, diverse, and often the synergistic result of multiple factors. Fetal autopsy and placental pathology are the key technical means to identify the cause of death and deserve more attention and utilization.
Adult ; Autopsy ; Child ; Female ; Fetal Death/etiology* ; Fetus/pathology* ; Gestational Age ; Humans ; Placenta/pathology* ; Pregnancy ; Retrospective Studies ; Young Adult

Objective: Several COVID-19 patients have overlapping comorbidities. The independent role of each component contributing to the risk of COVID-19 is unknown, and how some non-cardiometabolic comorbidities affect the risk of COVID-19 remains unclear. Methods: A retrospective follow-up design was adopted. A total of 1,160 laboratory-confirmed patients were enrolled from nine provinces in China. Data on comorbidities were obtained from the patients' medical records. Multivariable logistic regression models were used to estimate the odds ratio ( Results: Overall, 158 (13.6%) patients were diagnosed with severe illness and 32 (2.7%) had unfavorable outcomes. Hypertension (2.87, 1.30-6.32), type 2 diabetes (T2DM) (3.57, 2.32-5.49), cardiovascular disease (CVD) (3.78, 1.81-7.89), fatty liver disease (7.53, 1.96-28.96), hyperlipidemia (2.15, 1.26-3.67), other lung diseases (6.00, 3.01-11.96), and electrolyte imbalance (10.40, 3.00-26.10) were independently linked to increased odds of being severely ill. T2DM (6.07, 2.89-12.75), CVD (8.47, 6.03-11.89), and electrolyte imbalance (19.44, 11.47-32.96) were also strong predictors of unfavorable outcomes. Women with comorbidities were more likely to have severe disease on admission (5.46, 3.25-9.19), while men with comorbidities were more likely to have unfavorable treatment outcomes (6.58, 1.46-29.64) within two weeks. Conclusion Besides hypertension, diabetes, and CVD, fatty liver disease, hyperlipidemia, other lung diseases, and electrolyte imbalance were independent risk factors for COVID-19 severity and poor treatment outcome. Women with comorbidities were more likely to have severe disease, while men with comorbidities were more likely to have unfavorable treatment outcomes.
Adult ; Aged ; COVID-19/virology* ; China/epidemiology* ; Comorbidity ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Severity of Illness Index ; Treatment Outcome

In aged patients, acute kidney injury (AKI) is a common clinical complication after percutaneous coronary intervention (PCI), highlighting the need for timely and certain diagnosis of this disease. A single centre, nested case-control study was conducted, which assessed the usefulness of urinary liver-type fatty acid-binding protein (uL-FABP), neutrophil gelatinase-associated lipocalin (uNGAL), and kidney injury molecule-1 (uKIM-1) for early detection of AKI. One hundred and thirty-two patients at or over 60 years old undergoing PCI were included. Serum creatinine (SCr) was measured before PCI, 24 and 48 h after PCI; uL-FABP, uNGAL, and uKIM-1 were measured before PCI, 6, 24, and 48 h after PCI. We identified 16 AKI patients and selected 32 control patients matched by admission time (<1 week), age (±5 years), and gender. In the receiver operating characteristic (ROC) curve analysis, the areas under the curve (AUCs) for the relative measurements of uL-FABP, uNGAL, and uKIM-1 were 0.809, 0.867, and 0.512 at 6 h after PCI, and 0.888, 0.840, and 0.676 at 24 h after PCI, respectively. AUC for the combination of uL-FABP and uNGAL was 0.899 at 6 h after PCI, and 0.917 at 24 h after PCI. Thus, measurement of uL-FABP and uNGAL levels at 6 and 24 h after PCI may be useful in detecting AKI in aged patients. Measurement of uKIM-1 levels provides inferior predictive power for early diagnosis of AKI.
Acute Kidney Injury ; diagnosis ; urine ; Aged ; Aged, 80 and over ; Early Diagnosis ; Fatty Acid-Binding Proteins ; urine ; Female ; Hepatitis A Virus Cellular Receptor 1 ; analysis ; Humans ; Lipocalin-2 ; urine ; Male ; Percutaneous Coronary Intervention ; adverse effects

High-throughput sequencing was performed for the peripheral blood DNA from two probands in the family with tuberous sclerosis complex (TSC) to determine the sequences of TSC-related genes TSC1 and TSC2 and their splicing regions and identify mutation sites. Amplification primers were designed for the mutation sites and polymerase chain reaction and Sanger sequencing were used to verify the sequences of peripheral blood DNA from the probands and their parents. The two probands had c.3981-3982 insA (p.Asp1327AspfsX87) and c.4013-4014 delCA (p.Ser1338Cysfs) heterozygous mutations, respectively, in the TSC2 gene. The parents of proband 1 had no abnormalities at these two loci; the mother of proband 2 had c.4013-4014 delCA heterozygous mutation in the TSC2 gene, while the father and the grandparents of proband 2 had no abnormalities. c.3981-3982 insA mutation may cause early coding termination of amino acid sequence at the 1413th site, and c.4013-4014 delCA mutation may cause early coding termination of amino acid sequence at the 1412th site. These two mutations are the pathogenic mutations for families 1 and 2, respectively, and both of them are novel frameshift mutations, but their association with the disease needs to be further verified by mutant protein function cell model and animal model.
Child ; Child, Preschool ; Female ; Frameshift Mutation ; Humans ; Tuberous Sclerosis ; genetics ; Tumor Suppressor Proteins ; genetics

Objective To analyze the bio-mechanics when hemiplegics reach with the unaffected upper limb.Methods Thirty post-stroke hemiplegics were selected into the patient group,while 23 healthy counterparts were chosen for the control group.Both groups completed a reaching test of their upper limbs which divided reaching into a moving stage and a holding stage.Surface electromyography (sEMG) data were recorded during the tests along with the degree of torso twist,the range of motion of the shoulder,movement velocity,smoothness of movement and angle divergence collected using a wearable micro-sensor motion capture system.Results For the stroke patients whose dominant upper limb was unaffected,the average root mean square (RMS) signal from the upper trapezius (34.3 μV) and the average torso twist (-1.4°) in the moving phase were significantly larger than among the control subjects (19.7 μV and-2.3°),but their average movement velocity was significantly slower.In the holding phase the average RMS signal from the upper trapezius (55.4 μV) was still significantly higher than in the control group,but their average pectoralis major signal and the integrated EMG ratio of the anterior segments of the deltoid and upper trapezius muscle pairs were significantly lower.For the stroke patients whose dominant upper limbs were affected,in thc moving phase their average signal from the middle segments of the deltoid were significantly greater than those of the controls,but their movement velocity was significantly slower.For the control subjects,in the moving phase the average signal from the upper trapezius on their non-dominant side was significantly higher than that from the dominant upper limb.The integrated EMG ratio from the anterior segments of the deltoid and upper trapezius muscle pairs on that side was smaller throughout the whole reaching movement.Conclusion The bio-mechanical characteristics in reaching of the unaffected upper limbs of stroke patients are not the same as those of the corresponding upper limbs of healthy subjects.It is more reasonable to select the corresponding upper limbs of healthy subjects as controls when a bio-mechanical study of the affected upper limbs is conducted.

Objective To document the kinematics of upper-limb motor dysfunction among hemiplegic stroke survivors.Methods Thirty-nine stroke survivors with hemiplegia were selected as the experimental group,while twenty-five healthy counterparts were chosen as the control group.Reaching movements performed in the sagittal plane were divided into an anteflexion phase and a holding phase.Three-dimensional kinematics data were captured using a micro-sensor motion capture system,and surface electromyograms (sEMGs) were recorded synchronously from the upper trapezius (UT),the anterior (AD) and middle (MD) segments of the deltoid,the biceps brachii (BB) and the triceps brachii (TB).The torso twist (TTD),the range of motion (ROM) of the shoulder,movement velocity (MV),isotonic instability degree (IT) and isometric instability degree (IM) were extracted.Integrated electromyography (iEMG) and work ratios were chosen as indicators to compare the two groups.The experimental group's kinematic indicators were correlated with that group's sEMG parameters.Results The average TTD,IT and IM in the experimental group were significantly larger than those of the control group,while the ROM of the shoulder and the MV were significantly smaller.During the anteflexion phase,the average iEMG from the UT in the experimental group was significantly larger than that of the control group,while the average iEMGs from their AD and TB were significantly smaller;The BB/TB work ratios in the experimental group were significantly greater than those of the conrol group,while the AD/UT and AD/MD ratios were significantly smaller.The results during the holding phase were similar.In the experimental group,torso twist was found to be positively correlated with the iEMG of the UT,and the ROM of the shoulder and movement velocity were also positively correlated with the iEMG of the AD.Conclusions Kinematics variables and sEMG features can be used to evaluate the motor dysfunction of hemiplegic stroke patients' affected upper limbs quantitatively and provide guidance for rehabilitation.

OBJECTIVETo evaluate the efficacy and safety of Chinese medicine (CM) intervention in the treatment of nonalcoholic steatohepatitis (NASH) from liver enzyme (ALT), imaging (the liver/spleen CT ratio) and syndrome scores, and to establish standard methods for diagnosis and therapeutic efficacy evaluation with characteristics of CM.

METHODSA multi-center, stratified randomized, parallel controlled, blindness-method evaluated, superiority trial was performed. Totally 204 patients were randomly allocated into two groups, 102 patients in the experimental group (treated with CM) and 102 patients in the control group [treated with Western medicine (WM)]. The alanine aminotransferase (ALT), liver/spleen CT ratio, and clinical symptoms were observed in both groups.

RESULTSOf the randomly allocated 204 cases from 4 hospitals, 3 patients were rejected, and 25 were lost. Totally 176 cases con- formed to the plan with complete follow-ups. After 3 months of treatment, syndrome scores and the improvement of partial clinical symptoms (fatigue and sallow complexion) were superior in the experimental group to those in the control group (P < 0.05). After 3 months of follow-up, the syndrome scores and improvement of partial clinical symptoms (fatigue and sallow complexion) were superior in the experimental group to those in the control group (P < 0.05). There was no statistical difference in improving liver enzymes or the liver/spleen CT ratio between the two groups (P > 0.05). There were 4 adverse reactions/adverse events in the two groups in the process of treatment, mainly covering drug-induced liver injury, diarrhea, and epigastric distension. Adverse reactions had nothing to do with CM treatment.

CONCLUSIONSJianpi Shugan Recipe had obvious efficacy in treatment of NASH. It could remove the liver fat and play a role in anti-inflammation and liver protection. It also could improve the indices of liver enzymes and the liver/spleen CT ratio effectively, which was superior to Polyene Phosphatidylcholine Capsule (PPC) in improving clinical symptoms, especially for such symptoms as fatigue and sallow complexion.

Adult ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Humans ; Male ; Middle Aged ; Non-alcoholic Fatty Liver Disease ; drug therapy ; Phytotherapy

Objective To estimate the status of coincidence of high-risk HPV (HR-HPV) test and thinprep cytology test(TCT) with biopsy histopathological diagnosis.And explore the diagnostic value in the cervical cancer and precancerous lesions by combination of these two methods.Methods Retrospective analysis cases with the positive cytological diagnosis.Acrodding to the principle of voluntariness and informed consent,3197 cases were selected and further investigated by high-risk human papillomavirus testing and biopsy histopathological diagnosis.We had a comparative analysis to the coincidence of TCT,high-risk HPV-DNA test and biopsy histopathological diagnosis.Results Among 3197 cases,58.6％ cases with chronic inflammation,26.1％ cases with condyloma or CIN Ⅰ,14.1％ cases with GIN Ⅱ-Ⅲ,and 1.2％ cases with invasive cervical carcinoma.Compared with pathological biopsy,the coincident rate of the diagnosis of TCT cytology and histopathology were 21.2％ (ASC-US),28.6％ (ASC-H),39.6％ (LSIL),56.2％ (HSIL) and 72.4％ (cervical carcinoma),respectively.Among cases of positive TCT diagnosis,Compared HR-HPV test and histopathological diagnosis,infection rate of HR-HPV increases significantly with increasing pathological grade (x2 =292.354,P =0.000 ＜ 0.05).As the TCT diagnostic level increases,the positive rate of HR-HPV marked grows (x2 =144.113,P =0.000 ＜ 0.05).Conclusion TCT can reduce the incidence of cancer effectively.But lower sensitivity in the low-grade cervical lesions may cause missed diagnosis.Combined TCT and HR-HPV test will improve the detection rate of cervical lesions; it is an ideal method to screening cervical cancer.