Aged ; Aged, 80 and over ; Carcinoma, Squamous Cell/pathology* ; Esophageal Neoplasms/pathology* ; Esophageal Squamous Cell Carcinoma ; Humans ; Kaplan-Meier Estimate ; Male ; Middle Aged ; Neoplasm Staging ; Prognosis ; Retrospective Studies

To discuss the diagnosis and treatment of jugular vein thrombosis, subclavian vein thrombosis and the right brachiocephalic vein thrombosis after in vitro fertilization and embryo transfer (IVF-ET)cycles in clinical practice. The clinical data regarding a case of jugular vein thrombosis, subclavian vein and the right brachiocephalic vein thrombosis in IVF-ET were reviewed. Clinical characteristics, prevention and treatment of jugular vein thrombosis, subclavian vein and the right brachiocephalic vein thrombosis in IVF-ET were discussed. A woman with secondary infertility underwent an IVF cycle with prolonged protocol controlled ovarian hyperstimulation. The oestradial concentration was 2 495 pg/mL on the day of human chorionic goeadotrophin (hCG). Fifteen occytes were retrieved and 2 embryos were transferred. Nine days after the embryos were transferred, the patient had ascites,hydrothorax and fluid of pelvic cavity accumulating, and was hospitalized. The patient underwent volume expansion and paracentesis, and left the hospital 30 days after the embryo transfer. Her right neck had pain 43 days after the embryo transfer. B ultrasound showed jugular vein thrombosis, subclavian vein and the right brachiocephalic vein thrombosis. The patient underwent low molecular weight heparin anticoagulation and low molecular weight dextran expansion, and left hospital with symptoms improved. She had Caesarean section and had a healthy baby girl. The thrombosis in the IVF-ET was a rare and serious complication. Prevention of ovarian hyperstimulation syndrome (OHSS) may reduce the incidence. The patients had local pain, swelling, skin temperature increased, headache, neck pain, and had to be checked to determine whether there were blood clots. The main treatment was low molecular weight heparin anticoagulation and low molecular weight dextran expansion. Timely Cesarean section is recommended to ensure the safety of perinatal mother and child.
Adult ; Brachiocephalic Veins ; Embryo Transfer ; adverse effects ; Female ; Fertilization in Vitro ; adverse effects ; Heparin, Low-Molecular-Weight ; therapeutic use ; Humans ; Jugular Veins ; Ovarian Hyperstimulation Syndrome ; complications ; etiology ; Subclavian Vein ; Venous Thrombosis ; drug therapy ; etiology

Androgen insensitivity syndrome (AIS), an X-linked recessive genetic disorder of sex development, is caused by mutations in the androgen receptor (AR) gene, and is characterized by partial or complete inability of specific tissues to respond to androgens in individuals with the 46,XY karyotype. This study aimed to investigate AR gene mutations and to characterize genotype-phenotype correlations. Ten patients from unrelated families, aged 2-31 years, were recruited in the study. Based on karyotype, altered hormone profile, and clinical manifestations, nine patients were preliminarily diagnosed with complete AIS and one with partial AIS. Genetic analysis of AR gene revealed the existence of 10 different mutations, of which five were novel (c.2112 C>G[p.S704R], c.2290T>A[p.Y764N], c.2626C>T[p.Q876X], c.933dupC[p.K313Qfs*28], and c.1067delC[p.A356Efs*123]); the other five were previously reported (c.1789G>A[p.A597T], c.2566C>T[p.R856C], c.2668G>A[p.V890M], c.2679C>T[p.P893L], and c.1605C>G[p.Y535X]). Regarding the distribution of these mutations, 60.0% were clustered in the ligand-binding domain of AR gene. Exons 1 and 8 of AR gene each accounted for 30.0% (3/10) of all mutations. Most of the truncation mutations were in exon 1 and missense mutations were mainly located in exons 4-8. Our study expands the spectrum of AR gene mutations and confirms the usefulness of AR gene sequencing to support a diagnosis of AIS and to enable prenatal or antenatal screening.
Adolescent ; Adult ; Androgen-Insensitivity Syndrome/genetics* ; Child ; Child, Preschool ; DNA Mutational Analysis ; Genetic Association Studies ; Humans ; Male ; Mutation, Missense ; Phenotype ; Receptors, Androgen/genetics* ; Symptom Assessment ; Young Adult

Basal metabolic rate (BMR) is of great significance to the setting of daily energy requirements and the scientific diet guidance for the population. There are 3 kinds of measurement methods for BMR, including the direct calorimetry, the indirect calorimetry, and the equation estimation. The direct calorimetry method is difficult to implement and is only used in some special populations. The indirect calorimetry and the equation estimation are two methods that are currently used commonly. The indirect calorimetry is highly accurate and suitable for individual for basal metabolic measurement or datum collection via equation estimation. The equation estimation is simple and convenient, which is suitable for large samples.
Basal Metabolism ; physiology ; Biomedical Research ; Calorimetry, Indirect ; Energy Metabolism ; Humans

Ferroptosis is a novel type of iron-dependent cell death driven by lipid peroxidation. More and more evidence shows that ferroptosis is related to various pathological conditions, such as neurodegenerative diseases, diabetic nephropathy, and cancer. Ferroptosis driven by lipid peroxidation may promote or inhibit the occurrence and development of these diseases. The intracellular antioxidant system plays an important role in resisting ferroptosis by inhibiting lipid peroxidation. The key pathways of ferroptosis include the amino acid metabolism pathway with SLC7A11-GPX4 as the key molecule, the iron metabolism pathway with ferritin or transferrin as the main component, and the lipid metabolism pathway. The occurrence of ferroptosis is regulated by intracellular proteins, which undergo various post-translational modifications, including ubiquitination. The ubiquitin-proteasome system (UPS) is one of the main degradation systems in cells. It catalyzes the ubiquitin molecule to label the protein and then the proteasome recognizes and degrades the target protein. UPS promotes ferroptosis by promoting the degradation of key ferroptosis molecules (such as SLC7A11, GPX4, and GSH) and antioxidant systems (such as NRF2). UPS can also inhibit ferroptosis by promoting the degradation of related molecules in the lipid metabolism pathway (such as ACLS4 and ALOX15). In this review, we summarize the latest research progress of ubiquitination modification in the regulation of ferroptosis, generalize the published studies on the regulation of ferroptosis by E3 ubiquitin ligase and deubiquitination, and sum up the targets of ubiquitin ligase and deubiquitination regulating ferroptosis, which is helpful to identify new prognostic indicators in human diseases and provide potential therapeutic strategies for these diseases.

OBJECTIVES: Primary carnitine deficiency (PCD) is a rare fatty acid metabolism disorder that can cause neonatal death. This study aims to analyze carnitine levels and detect SLC22A5 gene in newborns with carnitine deficiency, to provide a basis for early diagnosis of PCD, and to explore the relationship between carnitine in blood and SLC22A5 genotype. METHODS: A total of 40 neonates with low free carnitine (C0<10 μmol/L) in blood were the subjects of the study. SLC22A5 gene was detected by Sanger sequencing to analyze the value of carnitine, the results of gene test and their relationship. RESULTS: A total of 15 variants of SLC22A5 gene were detected, including 11 pathogenic or likely pathogenic variants and 4 variants of uncertain significance. There were 5 new mutations: c.288delG (p.G96fsX33), c.744_745insTCG (p.M258_L259insS), c.752A>G (p.Y251C), c.495 C>A (p.R165E), and c.1298T>C (p.M433T). We found 14 PCD patients including 2 homozygous mutations and 12 heterozygous mutations, 14 with 1 mutation, and 12 with no mutation among 40 children. The C0 concentration of children with SLC22A5 gene homozygous or complex heterozygous mutations was (4.95±1.62) μmol/L in the initial screening, and (3.90±1.33) μmol/L in the second screening. The C0 concentration of children with no mutation was (7.04±2.05) μmol/L in the initial screening, and (8.02±2.87) μmol/L in the second screening. There were significant differences between children with homozygous or compound heterozygous mutations and with no mutation in C0 concentration of the initial and the second screening (both CONCLUSIONS There are 5 new mutations which enriched the mutation spectrum of SLC22A5 gene. C0<5 μmol/L is highly correlated with SLC22A5 gene homozygous or compound heterozygous mutations. Children with truncated mutation may have lower C0 concentration than that with untruncated mutation in the initial screening.
Cardiomyopathies ; Carnitine/deficiency* ; Child ; Humans ; Hyperammonemia/genetics* ; Infant, Newborn ; Muscular Diseases/genetics* ; Mutation ; Solute Carrier Family 22 Member 5/genetics*

OBJECTIVE: To construct a eukaryotic expression vector of bromodomain-containing protein 7 (BRD7) with deletion of bromodomain (BRD7△brd) using the homologous recombination and reverse PCR amplification techniques. METHODS: The linear DNA fragments of bromodomain-deleted mutation of BRD7 (pIRES2-EGFP- 3Flag/BRD7△brd) were amplified by one pair of reverse PCR primers using high-fidelity enzyme, and then these fragments were transformed into E.coli to obtain the eukaryotic expression vector expressing BRD7△brd protein based on homologous recombination and plasmid cyclization. RESULTS: Bromodomain-deleted clones were identified by digestion with restrictive enzymes, and then the sequence and protein expression were further confirmed by sequencing and Western blot assays. The results suggest that pIRES2-EGFP-3Flag/BRD7△brd was successfully constructed. CONCLUSION We establish a simple and quick method to construct plasmids with pIRES2-EGFP- 3Flag/BRD7△brd using reverse PCR amplification and homologous recombination techniques. We also found that the concentration of template in PCR reaction system is one of the critical factors that affect the rate of homologous recombination. Of all, this improved technique could be widely used in the construction of gene mutations.
Chromosomal Proteins, Non-Histone ; genetics ; Escherichia coli ; genetics ; Homologous Recombination ; Humans ; Mutation ; Plasmids ; Polymerase Chain Reaction ; methods ; Sequence Deletion ; Transfection ; methods

Novel coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus-2 (SARS-COV-2) is spreading rapidly around the world and has become a global pandemic. Meteorological factors have been recognized as one of the critical factors that influence the epidemiology and transmission of infectious diseases. In this context, the World Meteorological Organization and scholars at home and abroad have paid extensive attention to the relationships of environment and meteorology with COVID-19. This paper systematically collected and sorted out relevant domestic and foreign studies, and reviewed the latest research progress on the impact of environmental and meteorological factors on COVID-19, classifying them into typical meteorological factors (such as temperature, humidity, and wind speed), local environmental factors (such as indoor enclosed environment, ventilation, disinfection, and air conditioning), and air pollution. Current research evidence suggests that typical meteorological factors, local environmental factors, and air pollutants are closely related to the transmission of COVID-19. However, the results of different studies are still divergent due to uncertainty about the influencing mechanism, and differences in research areas and methods. This review elucidated the importance of environmental and meteorological factors to the spread of COVID-19, and provided useful implications for the control of further large-scale transmission of COVID-19 and the development of prevention and control strategies under different environmental and meteorological conditions.

OBJECTIVE: To compile a questionnaire on maternal and child health birth cohort study, to provide effective tools for exploring the effect of various exposure factors on pregnancy outcome and children's health, and to track children's growth and development dynamically.
 METHODS: The preliminary questionnaire on maternal and child health birth cohort study was designed after literature research, health information systems analysis and group discussion. The questionnaire was finalized after expert consultation and pre-survey.
 RESULTS: The formal questionnaire on maternal and child health birth cohort study was developed, including maternal health information and children's health information.
 CONCLUSION The questionnaire can be used for collecting maternal health data and children's health data within 1 year old, and this work is useful for scholars in the study on birth cohort invovling the maternal and child health.
Child Health ; Cohort Studies ; Female ; Humans ; Infant ; Maternal Health ; Pregnancy ; Pregnancy Outcome ; Surveys and Questionnaires

The present study investigated the effects of the serum-free conditioned media of the bone marrow endothelial cells on CFU-F for potential mechanisms upon which hematopoiesis may be regulated by them within the bone marrow microenvironment. After obtaining the serum-free conditioned media of human and murine purified bone marrow endothelial cells (hBMEC-CM and mBMEC-CM) in vitro, MW > 10 kD, 3 - 10 kD and < 3 kD components were sifted out from these media by means of serial ultrafiltration. Assays of CFU-F were performed to test the effects of BMEC-CM and their ultrafiltrated components. The results showed that every one of hBMEC-CM, mBMEC-CM and their MW < 3 kD components exerted a suppressive effect on the proliferation of corresponding CFU-F but MW > 10 kD and 3 - 10 kD components. The BMEC-CM and MW < 3 kD components decreased the number as well as the size of CFU-F. There were the markedly negative concentration-dependent relations between the concentrations of MW < 3 kD component and the numbers of CFU-F. These findings suggested that bone marrow endothelial cells in culture could secrete at least a humoral factor (molecular weight less than 3 kD) which has an inhibitory effect on the growth of CFU-F.