Objective To explore the influencing factors for Hook-wire precise positioning under CT guidance, determine the best positioning management strategy, and develop Nomogram prediction model. Methods Patients who underwent CT-guided Hook-wire puncture positioning in our hospital from July 2018 to November 2022 were selected. They were randomly divided into a training set and a validation set with a ratio of 7 : 3. Clinical data of the patients were analyzed, and the logistic analysis was used to screen out the risk factors that affected CT-guided Hook-wire precise positioning for the training set. The Nomogram prediction model was constructed according to the risk factors, and the goodness of fit test and clinical decision curve analysis were performed. Results A total of 199 patients with CT-guided Hook-wire puncture were included in this study, including 72 males and 127 females, aged 25-83 years. There were 139 patients in the training set and 60 patients in the validation set. In the training set, 70 patients were accurately located, with an incidence of 50.36%. Logistic regression analysis showed that height [OR=3.46, 95%CI (1.44, 8.35), P=0.006], locating needle perpendicular to the horizontal plane [OR=3.40, 95%CI (1.37, 8.43), P=0.008], locating needle perpendicular to the tangent line of skin surface [OR=6.01, 95%CI (2.38, 15.20), P＜0.001], CT scanning times [OR=3.03, 95%CI (1.25, 7.33), P=0.014], occlusion [OR=10.56, 95%CI (1.98, 56.48), P=0.006] were independent risk factors for CT-guided Hook-wire precise localization. The verification results of the Nomogram prediction model based on these independent risk factors showed that the area under the receiver operating characteristic curve (AUC) was 0.843 [95%CI (0.776, 0.910)], and the predicted value of the correction curve was basically consistent with the measured value. The AUC of the model in the validation set was 0.854 [95%CI (0.759, 0.950)]. The decision curves showed that when the threshold probability was within the range of 8%-85% in the training set and 18%-99% in the validation set, there was a high net benefit value. Conclusion Height, the locating needle perpendicular to the horizontal plane, the locating needle perpendicular to the tangent line of skin surface, number of CT scans, and occlusion are independent risk factors for CT-guided Hook-wire accurate localization. The Nomogram model established based on the above risk factors can accurately assess and quantify the risk of CT-guided Hook-wire accurate localization.

Objective To examine the application effectiveness of dual 8F ultrafine pigtail drainage tubes versus a single 28F large-bore chest tube in single-port thoracoscopic lobectomy/segmentectomy. Methods Clinical data of patients who underwent single-port video-assisted thoracoscopic lobectomy/segmentectomy within our medical group from January 2020 to August 2023 were retrospectively analyzed. They were categorized into two groups based on postoperative drainage methods: a dual 8F ultrafine pigtail tubes group and a single 28F large-bore chest tube group. Comparative analysis was performed on perioperative data for the two groups of patients. Results The dual 8F ultrafine pigtail tubes group comprised of 68 patients, with 41 females and 27 males, and an average age of (54.72±13.34) years, while the single 28F large-bore chest tube group comprised of 80 patients, with 40 females and 40 males, and an average age of (57.60±11.04) years. There were statistical differences between the two groups in terms of postoperative drainage volume on day 1, day 2, and day 3, total postoperative drainage volume, postoperative tube placement time, postoperative pain score at 48 hours, maximum postoperative pain score, postoperative hospital stay, postoperative complications related to drainage tubes, and emergency use of pain-relieving medication after surgery (P＜0.05). Conclusion After single-port thoracoscopic lobectomy/segmentectomy, the application of dual ultrafine 8F pigtail drainage tubes can lead to a reduction in postoperative drainage volume and shorten the duration of postoperative drainage tube placement and hospital stay, thereby decreasing postoperative pain and the frequency of emergency pain-relieving medication. Moreover, it lowers the incidence of drainage tube-related complications. In alignment with current enhanced recovery after surgery principles, this approach is advantageous for postoperative recovery.

With the widespread adoption of low-dose computed tomography(LDCT)and advancements in computed tomography image resolution,the detection rate of pulmonary nodules,especially smaller ones,has significantly improved.The risk of developing malignant tumors increases with the pulmonary nodule diameter.Video-assisted thoracoscopic surgery(VATS)stands out as the preferred surgical method.The accurate localization of pulmonary nodules is crucial for the success of VATS and remains a significant challenge for thoracic surgeons.Currently,commonly employed localization methods include CT-guided percutaneous positioning,bronchoscope-guided positioning,intraoperative ultrasound positioning,augmented reality(AR),and 3D print-assisted positioning.This review explores recent research progress,highlights the strengths and weaknesses of various pulmonary nodule localization methods.The aim is to provide valuable insights for clinical applications and guide future developments in this field.

Objective:To evaluate the diagnostic value of exercise stress echocardiography combined with left ventricular two-dimensional speckle tracking layer-specific strain technique in evaluating subclinical myocardial damage and reserve function in patients with hypertension.Methods:A total of 51 healthy subjects(control group) and 55 hypertensive patients (hypertension group) were enrolled in the treadmill exercise stress test in Sichuan Provincial People′s Hospital from October 2018 to January 2020. According to the European Guidelines for the Prevention and Treatment of Hypertension, the inclusion criteria for patients with hypertension were: blood pressure≥140/90 mmHg or who explicitly took antihypertensive drugs, and related cardiovascular diseases were excluded. The conventional parameters of resting and peak exercise, including left ventricular mass index, left ventricular end-diastolic volume index and left ventricular ejection fraction et al, were analyzed by speckle tracking software in two groups. According to the standard images in the resting and peak exercise, the endocardium /mid-myocardium /epicardium of left ventricular (three-, two-, four-chamber and global) longitudinal strain and circumferential strain (papillary muscle level) were compared respectively in two groups. The characteristics of strain differences and the systolic function reserve between the resting and peak exercise were evaluated.Results:There were significant differences in conventional ultrasound parameters between resting and peak exercise period in hypertension group, except E/A and e/a ratio (all P<0.05), and E/e value increased significantly(12.1±0.38) during peak exercise, indicating impaired diastolic reserve function. The longitudinal and circumferential layer-specific strain values from endocardial to epicardial were gradually decreased in both two groups. Compared with the control group, the resting longitudinal and circumferential endocardial strain values in hypertensive group were decreased, and the differences were more obvious at peak status, for instance global longitudinal endocardium strain at rest[control group (24.4±1.5)%, hypertension group (20.4±2.3)%], peak status[control group (30.8±2.8)%, hypertension group (22.8±2.9)%]( P<0.05). There were no significant differences of the partial layer-specific strain values between the peak exercise and resting status in hypertension group, while peak layer-specific strain of the control group were all significantly increased, suggesting that the left ventricular systolic reserve function of hypertension patients was lower than that of the control group. Conclusions:Left ventricular layer-specific strain can effectively evaluate the myocardial function in patients with hypertension, especially the endocardial strain can be used as an indicator parameter, and the peak exercise stress state is more sensitive. The systolic and diastolic reserve function of the left ventricle in patients with hypertension at the peak period are reduced to different degrees. Exercise stress echocardiography combined with left ventricular layer-specific strain technique can be used as a new method for detection of myocardial function impairment in patients with hypertension.

Objective:To report a Chinese family with a novel ABCD1 gene mutation at c.332T>G (p.V111G) site and discuss its clinical characteristics and molecular mechanism.Methods:The clinical data, laboratory examination, and imaging examination results were analyzed to make the clinical diagnosis of a middle-aged onset patient from the First Affiliated Hospital of Zhengzhou University in May 2017. High-throughput sequencing was used to discover a novel ABCD1 gene mutation. Sanger sequencing was used to find out whether other family members contain the same ABCD1 gene mutation. The pathogenicity of this mutation was explored by protein structure prediction and pathogenicity analysis. Adrenoleukodystrophy protein-green fluorescent protein (ALDP-GFP) and ALDP-GFP (V111G) plasmids were constructed and human embryonic kidney 293 cells were transfected, then immunofluorescence and Western blotting were used to explore the molecular mechanism of this mutation (completed in Henan Provincial People′s Hospital).Results:The proband (a 39-year-old male) was diagnosed as adrenomyeloneuropathy, a subset of X-linked adrenoleukodystrophy, with a novel heterozygous missense mutation in the ABCD1 gene at c.332T>G (p.V111G) site, and his mother and two daughters were all carriers. Protein structure prediction and pathogenicity results suggested that this mutation is pathogenic. Overexpression of ALDP-GFP (V111G) in the human embryonic kidney 293 cells resulted in a significant decrease in the expression levels of ALDP and the abnormal localization from the peroxisomal membrane to the cytoplasm, accompanied by significant down-regulation of LC3-Ⅱ/LC3-Ⅰ and beclin-1.Conclusion:c.332T>G (p.V111G) is a novel pathogenic mutation in the ABCD1 gene, which causes adrenomyeloneuropathy by impairing autophagy.

OBJECTIVETo analyze the molecular mechanism and prognosis of a child with aortic stenosis and thumb aplasia.

METHODSThe karotypes of the child and his parents were analyzed with routine G-banding. Their genomic DNA was also analyzed with array comparative genomic hybridization(aCGH) for chromosomal duplications/deletions.

RESULTSNo karyotypic abnormality was detected at cytogenetic level for the child and his parents. aCGH identified a de novo 5.86 Mb deletion at 2q22.3-q23.3 in the child.

CONCLUSIONThe child was diagnosed with 2q23.1 microdeletion syndrome. MBD5 may be the key gene for the 2q23.1 microdeletion syndrome.

OBJECTIVETo conduct genetic diagnosis for a family affected with hamophilia A.

METHODSPotential mutations of the F8 gene were analyzed with PCR and Sanger sequencing. Carriers of the mutation were identified through linkage analysis using short tandem repeat (STR) markers. Suspected mutations were verified among 100 healthy controls to rule out genetic polymorphism. Prenatal diagnosis was provided based on the above results.

RESULTSSequencing analysis has identified two mutations, c.1 A>T and c.4 C>T, which have replaced the start codon (ATG) with leucine (TTG) and glutamine (GAA) with the stop codon (TAA), respectively. The same mutations were not found among the 100 healthy controls. The patient's mother and sister were heterozygous for the same mutations. Upon prenatal diagnosis, the fetus was determined as a male and did not harbor the above mutations. Linkage analysis also confirmed that the fetus has inherited the non-risk X chromosome from his maternal grandfather.

CONCLUSIONDetection of pathogenic mutations can enable prenatal diagnosis for the disease.

Adult ; Factor VIII ; genetics ; Female ; Genetic Linkage ; genetics ; Hemophilia A ; genetics ; Humans ; Male ; Mutation ; genetics ; Prenatal Diagnosis ; methods ; Young Adult

Objective To evaluate the application values of diffusion tensor tractography (DTT) combined with neuronavigation in microsurgery of insular gliomas. Methods The clinical data of 27 patients with insular gliomas, admitted to our hospital from March 2013 to October 2017, were analyzed retrospectively. All DTT images were transferred to the neuronavigation system, and the three-dimensional location of tumors and pyramidal tracts were re-constructed. Surgical approaches were designed and excision scopes were defined before the surgery. Techniques on how to distinguish and protect the key blood vessels and pyramidal tracts were discussed. The treatment efficacies were analyzed. Results Total lesion resection was achieved in 22 patients (81.5％), subtotal resection in 4 (14.8％ ), and partial resection in one (3.7％ ). Postoperative pathology indicated 7 were oligodendrogliomas, and 20 were astrocytomas, including WHO grade I in one, grade II in 18, and grade III in one. One patient had transient aphasia (recovery after two weeks), 2 experienced worsened hemiplegia on opposite side of their bodies (normal after one month), and the left 24 patients remained intact function after operation. Conclusions The combination of DTT and neuronavigation is safe and effective in surgical treatment for insular gliomas, which can protect the brain function at greatest degree and maximize lesion resection, and improve the postoperative quality of life.

OBJECTIVETo conduct genetic diagnosis for a family in which no exonic deletions and duplications of the dystrophin gene were detected.

METHODSPotential exonic deletions and duplications of the dystrophin gene were initially analyzed with using multiplex ligation-dependent probe amplification (MLPA). Subsequently, all of the 79 exons of the dystrophin gene of the proband and a pregnant woman from the family were analyzed with PCR amplification and DNA sequencing. Following identification of the causative mutation, prenatal diagnosis was provided.

RESULTSMLPA analysis had detected no exonic deletions and duplications of the dystrophin gene. Sequence analysis has identified a C>T mutation on the 22nd nucleotide position of the 70th exon of the dystrophin gene (c.10108 C>T), which has replaced the codon CGA to a stop codon (TGA). The patient's mother and sister were both heterozygous for the same mutation. Upon prenatal diagnosis, the fetus was found to be positive for the Y chromosome sex-determining gene (SRY) and has carried above mutation. The result of short tandem repeat linkage analysis also confirmed that the fetus has inherited the mutant X chromosome.

CONCLUSIONThe causative mutation of the dystrophin gene has been discovered in an affected family, which has enabled prenatal diagnosis of the disease.

Child, Preschool ; Dystrophin ; genetics ; Exons ; Gene Deletion ; Gene Duplication ; Humans ; Male ; Microsatellite Repeats ; Multiplex Polymerase Chain Reaction ; Mutation

OBJECTIVETo assess the association of polymorphisms of human leukocyte antigen DRB1 gene (HLA-DRB1) with susceptibility to unexplained recurrent spontaneous abortion (URSA).

METHODSThe HLA-DRB1 gene was typed with polymerase chain reaction-specific sequence primers (PCR-SSP) method in 200 couples with URSA and 200 couples with a normal pregnancy history.

RESULTSThe frequencies of DRB1*09 and DRB1*13 alleles were significantly greater in the URSA group compared with the control group (14.50% vs. 9.50%, and 7.00% vs. 4.38%, both P<0.05), whilst the frequencies of DRB1*04 and DRB1*12 alleles were significantly lower (7.13% vs. 10.75%, and 8.63% vs. 14.38%, both P<0.05). For females from the URSA group, the frequency of DRB1*09 allele (14.00%) was significantly higher compared with the controls (9.25%) (P=0.036), whilst the frequency of DRB1*12(8.50%) allele was significantly lower (14.00%) (P=0.014). For males in the URSA group, the frequencies of DRB1*09 and DRB1*13 alleles were significantly higher than those of the controls (15.00% vs. 9.75%, and 9.25% vs. 4.00%, both P<0.05), whilst the frequencies of DRB1*04 and DRB1*12 alleles were significantly lower (5.75% vs. 12.25%, and 8.75% vs. 14.75%, P<0.05).

CONCLUSIONThe DRB1*09 and DRB1*13 alleles may contribute to the susceptibility of URSA, while DRB1*04 and DRB1*12 alleles may confer a protective effect factors. For females, however, no significant association of DRB1*13 and DRB1*04 alleles with URSA was found.

Abortion, Spontaneous ; ethnology ; genetics ; Alleles ; Asian Continental Ancestry Group ; ethnology ; genetics ; Female ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; HLA-DRB1 Chains ; genetics ; Humans ; Male ; Polymorphism, Single Nucleotide ; Pregnancy ; Young Adult