Objective To study the effect of postoperative ileus of laparoscopic surgery versus open surgery for colorectal canc-er .Methods 220 patients of colorectal cancer were selected from October 2009 to June 2012 .The patients were randomly divided into the observation group(n=110 cases) and the control group(n=110 cases) .The patients of the observation group were treated with laparoscopic surgery ,and the patients of the control group were treated with conventional open surgery .The postoperative anal exhaust time and hospital stay time ,the incidence of postoperative ileus of the two groups were observed and compared .Results The postoperative anal exhaust time and hospital stay time of the patients after radical resection of left colon ,right colon and rectal cancer of the observation group were significantly less than that of the control group (P<0 .05) .The incidence of postoperative ileus of the observation group was 5 .45% (6/110 ) ,significantly lower than 11 .82% (13/110 ) of the control group ( P< 0 .05 ) . Conclusion Laparoscopic colorectal surgery is a minimally invasive surgery ,the patient′s trauma is smaller ,the postoperative re-covery is rapidly .The incidence of intestinal obstruction is smaller than that of the conventional open surgery .

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 This paper attempts to explore the application of dizziness handicap inventory (DHI) in evaluation of health -related quality of life (QOL ) changes of patients with benign paroxysmal positional vertigo (BPPV) before and after the treatment with canalith repositioning procedure (CRP) .Methods The DHI was em-ployed to investigate and evaluate the dizziness handicap of 120 patients with BPPV before and after 3 months of CRP treatment (treatment group) and 60 healthy controls (control group) ,while the DHI scoring results were com-pared .Results As indicated by DHI evaluation ,the scoring of each DHI items of patients with BPPV before treatment was higher than that of control group ,treatment group before treatment :functional score 22 .60 ± 6 .54 ,emotional score 18 .50 ± 8 .28 ,physical score 17 .90 ± 5 .05 ,total composite score 59 .00 ± 14 .32 .For the control group:functional score 1 .35 ± 1 .74 ,emotional score 1 .00 ± 1 .01 ,physical score 1 .37 ± 1 .86 ,total composite score 3 .72 ± 3 .46 ,with the differ-ence statistically significant (P<0 .05) .The DHI scoring of treatment group of patients with BPPV after 3 months of CRP treatment was lower than that before the treatment (treatment group after 3 months CRP treatment :functional score 1 .10 ± 1 .42 ,emotional score 1 .50 ± 1 .70 ,physical score 1 .45 ± 1 .46 ,total composite score 4 .05 ± 3 .66) ,and the difference was statistically significant (P<0 .05) .There was no statistically significant difference comparing to the control group (P>0 .05) .Conclusion CRP is effective to treat BPPV .The DHI is available for the evaluation of QOL of BPPV patients .

BACKGROUND:For severe thoracolumbar compression fracture (>1/3 compression), ideal therapeutic method is minimal y invasive internal fixation, which has good biomechanical functions. Moreover, bone graft is reliable. Injured vertebra reduction and bone graft stability achieved. Motor unit of spinal column and normal physiological function were retained, resulting in lessening nearby segmental degeneration.
OBJECTIVE:To discuss the design of single vertebrae internal fixation system and evaluate its biomechanical performance which apply to treat thoracolumbar compression fracture by endoscope.
METHODS:A brand-new single vertebrae internal fixation system was designed in accordance with data of anatomic measurement of adult thoracolumbar vertebra. Six fresh adult corpse specimens were prepared to produce models of L 1 compression fracture, and assigned to control group, fracture injury group, single vertebrae internal fixation system group, AF reduction internal fixation group and anterior plate internal fixation group.Three-dimensional movement range experiments were conducted separately.
RESULTS AND CONCLUSION:The biomechanical comparison showed that there was no significant difference in three-dimensional range of motion among single vertebrae internal fixation system group (anteflexion, left and right lateroflexion), AF reduction internal fixation group and anterior plate internal fixation group (P>0.05). However, range of motion significantly increased at backward extension, left and right rotation (P<0.05). Results suggested that the design of single vertebrae internal fixation system was novel and the system had good biomechanical performance at anteflexion, left and right lateroflexion. However, it needs to be improved in which lacks of stability of extension and rotation.

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.

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

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 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.