Objective:To explore the clinical phenotypes and hematological characteristics of β-thalassemia combined with α-globin gene triplet.Methods:A retrospective case analysis study was conducted, taking individuals diagnosed with thalassemia who sought for outpatient services in No 1 people′s hospital of Chenzhou affiliated to South China University from August 10, 2021, to December 31, 2023 as study objectives. Among them, there were 8 768 males and 11 707 females, aged 31.5 (23.0, 46.0) years old. Blood analysis were analyzed by hematology analyze.The hemoglobin(Hb) Hb A, HbA 2,Hb F bands were analyzed by Capillary electrophoresis method, and the genotypes of thalassemia were analyzed by high-throughput sequencing technology.Hematological parameters between different genotypes of thalassemia were analyzed using t-tests and calibrated t-tests for data analysis. Results:A total of 27 cases of beta thalassemia combined with alpha globin triplet were detected, The average hemoglobin (Hb) of 11 cases of β Codon41/42 (-CTTT)/β N combined with ααα anti 4.2 (3.7) (92±16)g/L was lower than that of β Codon41/42 (-CTTT)/β N(112±11)g/L, and the difference was statistically significant ( t=3.97, P0.05). The average Hb of 8 cases of β IVS-Ⅱ-654 (CT)/β N combined with ααα anti 4.2 (3.7)(85±21) g/L was lower than that of β IVS-Ⅱ-654 (CT)/β N(116±12) g/L, and the difference was statistically significant ( t=4.05, P0.05). Conclusion:When the mutation site is at Codon41/42 (-CTTT) or IVS-Ⅱ-654 (CT), β-thalassemia combined with alpha globin triplet can make the clinical manifestations of β-thalassemia at this site more pronounced.

Objective:To explore the clinical phenotypes and hematological characteristics of β-thalassemia combined with α-globin gene triplet.Methods:A retrospective case analysis study was conducted, taking individuals diagnosed with thalassemia who sought for outpatient services in No 1 people′s hospital of Chenzhou affiliated to South China University from August 10, 2021, to December 31, 2023 as study objectives. Among them, there were 8 768 males and 11 707 females, aged 31.5 (23.0, 46.0) years old. Blood analysis were analyzed by hematology analyze.The hemoglobin(Hb) Hb A, HbA 2,Hb F bands were analyzed by Capillary electrophoresis method, and the genotypes of thalassemia were analyzed by high-throughput sequencing technology.Hematological parameters between different genotypes of thalassemia were analyzed using t-tests and calibrated t-tests for data analysis. Results:A total of 27 cases of beta thalassemia combined with alpha globin triplet were detected, The average hemoglobin (Hb) of 11 cases of β Codon41/42 (-CTTT)/β N combined with ααα anti 4.2 (3.7) (92±16)g/L was lower than that of β Codon41/42 (-CTTT)/β N(112±11)g/L, and the difference was statistically significant ( t=3.97, P0.05). The average Hb of 8 cases of β IVS-Ⅱ-654 (CT)/β N combined with ααα anti 4.2 (3.7)(85±21) g/L was lower than that of β IVS-Ⅱ-654 (CT)/β N(116±12) g/L, and the difference was statistically significant ( t=4.05, P0.05). Conclusion:When the mutation site is at Codon41/42 (-CTTT) or IVS-Ⅱ-654 (CT), β-thalassemia combined with alpha globin triplet can make the clinical manifestations of β-thalassemia at this site more pronounced.

Objective:To explore the distribution and hematological characteristics of rare thalassemia-associated mutations in Chenzhou region of Hunan Province with an aim to provide a basis for genetic counseling and effective prevention.Methods:A total of 37 370 individuals enrolled from January 2015 to December 2021 were screened by routine blood test and hemoglobin electrophoresis. The genotypes were determined with high-throughput sequencing.Results:A total of 8 455 thalassemia mutations (including 185 rare ones) were detected, which had involved 27 mutational types. Rare type α-Thalassemia --THAI and CD31 (AGG>AAG) have the typical microcytic hypochromic hematological features, whilst SEA-HPFH, CD14 (CTG>-TG), CD37 (TGG>TAG), -90(C>T), Codon 15 (G>A), IVS-Ⅰ-128 (T>G), CD86 (GCC>GC-) and Chinese Gγ+ (Aγδβ)0 had typical microcytic hypochromic and β-thalassemia-associated hematological features of elevated HbA2 or HbF. In addition, the -50(G>A)heterozygotes of β-thalassemia had normal or slightly decreased MCV and MCH without an increase in HbA2.Conclusion:Various forms of thalassemia-associated mutations have been identified in the Chenzhou region of Hunan Province. Above finding has facilitated development of preventive and control strategies for thalassemia as well as birth health programs.

OBJECTIVE: To assess the diagnostic value of whole exome sequencing (WES) for patients with intellectual disability (ID) or global developmental delay (GDD). METHODS: 134 individuals with ID or GDD who presented at Chenzhou First People's Hospital between May 2018 and December 2021 were selected as the study subjects. WES was carried out on peripheral blood samples of the patients and their parents, and candidate variants were verified by Sanger sequencing, copy number variation sequencing (CNV-seq) and co-segregation analysis. The pathogenicity of the variants was predicted based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). RESULTS: A total of 46 pathogenic single nucleotide variants (SNVs) and small insertion/deletion (InDel) variants, 11 pathogenic genomic copy number variants (CNVs), and 1 uniparental diploidy (UPD) were detected, which yielded an overall detection rate of 43.28% (58/134). The 46 pathogenic SNV/InDel have involved 62 mutation sites in 40 genes, among which MECP2 was the most frequent (n = 4). The 11 pathogenic CNVs have included 10 deletions and 1 duplication, which have ranged from 0.76 to 15.02 Mb. A loss of heterozygosity (LOH) region of approximately 15.62 Mb was detected in 15q11.2q12 region in a patient, which was validated as paternal UPD based on the result of trio-WES. The patient was ultimately diagnosed as Angelman syndrome. CONCLUSION WES can detect not only SNV/InDel, but also CNV and LOH. By integrating family data, WES can accurately determine the origin of the variants and provide a useful tool for uncovering the genetic etiology of patients with ID or GDD.
Humans ; Exome Sequencing ; Intellectual Disability/genetics* ; DNA Copy Number Variations ; Mutation ; Loss of Heterozygosity

OBJECTIVE: To assess the value of non-invasive prenatal testing (NIPT) for the identification of numerical and structural chromosomal abnormalities and copy number variations (CNVs) in fetuses. METHODS: 46 197 pregnant women undergoing NIPT at the Prenatal Diagnosis Center of Chenzhou First People's Hospital from January 2018 to December 2021 were selected as the study subjects. Positive cases were subjected to chromosomal karyotyping and copy number variation sequencing (CNV-seq) following amniocentesis. RESULTS: Nearly 50% of common chromosomal aneuploidies were found in the elder pregnant women. Among these, sex chromosome aneuploidies were mainly found in pregnant women with advanced age as well as borderline risks by serological screening. Rare autosomal aneuploidies and CNVs were mainly found in those with borderline or high risks by serological screening. The positive predictive values (PPV) for fetal chromosomal abnormalities indicated by NIPT were as follows: T21 (92.37%, 109/118), T18 (53.85%, 14/26), sex chromosome aneuploidies (45.04%, 59/131), T13 (34.62%, 9/26), CNVs (29.17%, 14/48), and rare autosomal aneuploidies (2.60%, 2/77). CONCLUSION NIPT has a high detection rate for T21, T18, T13 and sex chromosome aneuploidies. It can also detect rare autosomal aneuploidies and CNVs, including some rare structural abnormalities, though verification is required by analyzing amniotic fluid samples.
Pregnancy ; Female ; Humans ; DNA Copy Number Variations ; Chromosome Aberrations ; Chromosome Disorders/genetics* ; Aneuploidy ; Fetus

OBJECTIVE: To determine the carrier rate for common recessive genetic diseases in Chenzhou region in order to provide a reference for carrier screening in this region. METHODS: Targeted capture and high-throughput sequencing were carried out to detect potential variants of 79 genes associated with 88 recessive genetic diseases. Couples at risk were provided with prenatal diagnosis upon their subsequent pregnancies. RESULTS: A total of 1314 individuals were enrolled, among whom 355 (27.02%) were found to be carrier for at least one disease. The carrier rates for 8 diseases have exceeded 1%, with the most common two including thalassemia (11.72%, 154/1314) and autosomal recessive deafness (5.48%, 72/1314). Ten couples were found to be at risk for producing affected offspring. Among these, five females were carriers for X-linked recessive genetic diseases. Following genetic counseling, seven couples had accepted prenatal diagnosis, and 3 affected fetuses were diagnosed. CONCLUSION The disease types and pathogenic variants of Chenzhou region have differed from previously reported. Further research is required to validate the above finding with a larger populations.
Female ; Pregnancy ; Humans ; China ; Prenatal Diagnosis ; Fetus ; Genetic Counseling ; Genetic Diseases, X-Linked

Vasodilator stress MPI plays an important role in the detection of abnormal myocardial perfusion.Currently as the only selective A2A adenosine receptor agonist approved by FDA,the new myocardial stress agent regadenoson has been increasingly used in vasodilator stress MPI on clinic.This review describes the pharmacologic properties and overviews the clinical data on regadenoson,especially its diagnostic efficacy,prognosis predicting value and adverse effect as a vasodilator stress agent.

Objective To summarize the experiences in laparoscopic inguinal hernia repairing for adult patients. Methods Clinical data of 512 hernia cases admitted in our center from March 2007 to Sep 2010 were retrospectively analyzed.There were 437 cases of single-sided hernia,including 281 indirect inguinal hernia,86 direct inguinal hernia,15 femoral hernia,16 combined inguinal hernia and 39 recurrent hernia.There were also 75 cases of double-sided inguinal hernia,including 3 recurrent hernia.There were 41 acute incarcerated hernia cases.The average postoperative follow up time was(29 ± 12) months. Results 507 cases underwent successful laparoscopic repair,and 5 cases were converted to open procedure.There were 238 TAPP and 269 TEP in laparoscopic operations.The average operative time for TAPP was (69 ±19) min,and (58 ±15) min for TEP.The average length of postoperative stay was (5.0 ± 1.5) days.The percentage of resuming normal activity after 2 weeks and 4 weeks were 95.7％ (485/507) and 99.0％(502/507).The most common postoperative complications were seroma (9.7％,49/507),transient paresthesia (4.1％,21/507) and chronic pain (0.8％,4/507).The recurrence rate was 0.6％ (3/507).Conclusions Laparoscopic repair of inguinal hernia has the advantage of less trauma,faster recovery,and lower recurrence rate.

Objective To summarize the experience in application of da Vinci robotic surgical system in radical resection of rectal cancer,and investigate the proper position of trocars and operative techniques.Methods The clinical data of 13 patients who received radical resection of rectal cancer accomplished by the da Vinci robotic surgical system at the Southwest Hospital from February 2010 to February 2011 were retrospectively analyzed.The patients were in lithotomy position and received combined intravenous anesthesia.Five or 4 trocars were used.Miles procedures were performed on patients with lower tumor position,and the other patients received Dixon procedure.Results The operation was successfully performed on all patients.Five trocars were selected for the first 3 patients,and 4 trocars for the other 10 patients.Nine Dixon procedures and 4 Miles procedures were selected.The mean operation time was 217.3 minutes (range,160-260 minutes).The mean operative blood loss was 53.3 ml (range,40-70 ml) in Dixon procedure and 120.0 ml (range,90-130 ml) in the Miles procedure,and no blood transfusion was needed.The mean number of lymph nodes dissected was 13.9 (range,8-21 ),and the time to bowel movement was 3.2 days (range,2-5 days).Two patients were complicated with pulmonary infection,1 with urinary tract infection,and they were cured by antimicrobial therapy.No other morbidity or mortality was found.The results of postoperative pathological examination showed that there were no residual cancer cells at the resection margin,and the distance between the resection margin and the tumor was 6.3 cm (range,3-10 cm).There were 1 patient in stage Ⅰ,5 in stage Ⅱ and 7 in stage Ⅲ.The mean time of follow-up was 5.9 months (range,3-12 months),and no recurrence or metastasis was found during follow-up.ConclusionsRadical resection of rectal cancer with da Vinci robotic surgical system utilizing 4 trocars has the advantages of minimally invasive surgery with fast recovery as well as the ease of dissection afforded by the surgical robot.

Objective To investigate the change patterns of operation time of laparoscopic appendectomy and its significance. Methods The clinical data of 105 consecutive patients with appendicitis who received laparoscopic appendectomy at the Southwest Hospital from January 2007 to March 2010 were retrospectively analyzed. Of the 105 patients, five were converted to open surgery, and they were excluded from this study.The changes in operation time of different surgeons were statistically analyzed to detect the change patterns of the learning curve in laparoscopic appendectomy. Results A hundred cases of laparoscopic appendectomy were successfully performed by three surgeons. The mean operation time was ( 87 ± 36 ) minutes ( range, 30-217 minutes). No surgical injury happened during the operation, and the blood loss was under 10 ml. The learning curve of operation time was presented as a sine curve with an oscillating decreasing trend. The primary two cycles end at an average of 9.6 cases, which could be used as the end point of the learning curve of laparoscopic appendectomy. Conclusions The learning curve of laparoscopic appendectomy shows a typical oscillating decreasing trend. The preliminary study ends when 9.6 cases of operation are completed.