Objective To identify and isolate the variant gene associated with gastric adenocarcinoma and clone the fragment of variant gene.Methods By arbitrarily primer polymerase chain reaction (AP-PCR), DNA samples from 5 matched gastric adenocarcinoma and non-tumor gastric tissues were analysed. Results The produced AP-PCR profiles were different in each matched gastric adenocarcinoma and non-tumor gastric tissue. One differentiated amplified DNA fragments PW2.2 from a matched gastric adenocarcinoma were cloned. The result of Southern blot hybridization with PW2.2 as a probe showing that this fragment was also found in some other gastric adenocarcinoma samples. Conclusion AP-PCR fingerprinting assay can be used to identify and clone the variant genes associated with gastric adenocarcinoma.
Objective To explore the operative managements of ectopic gallbladder during laparoscopic cholecystectomy (LC).Methods Twenty one cases of ectopic gallbladder undergone LC in this hospital were analyzed regarding the perioperative management, principle, and technique of operation.Results There were 2 cases of situs transversus, 1 case with gallbladder under right posterior lobe of liver, 2 under left lateral lobe of liver and 16 in the liver. All 21 cases of ectopic gallbladder had undergone LC successfully, and no complications were found during and after operation. Conclusion Anatomic ectopia of gallbladder tosses a challenging problem to laparoscopic surgeon. It is safe for surgeons to recognise actual anatomical anomaly and to manage them appropriately.
ObjectiveTo explore the relationship between blood glucose variability index and persistent organ failure (POF) in acute pancreatitis (AP). MethodsWe prospectively included those patients who were diagnosed with AP with hyperglycemia and were hospitalized in the West China Center of Excellence for Pancreatitis of West China Hospital of Sichuan University from July 2019 to November 2021. The patients were given blood glucose monitoring at least 4 times a day for at least 3 consecutive days. The predictive value of blood glucose variability index for POF in patients with AP was analyzed. ResultsA total of 559 patients with AP were included, including 95 cases of POF. Comparing with those without POF, patients with AP complicated by POF had higher levels of admission glucose (11.0 mmol/L vs. 9.6 mmol/L), minimum blood glucose (6.8 mmol/L vs. 5.8 mmol/L), mean blood glucose (9.6 mmol/L vs. 8.7 mmol/L), and lower level of coefficient of variation of blood glucose (16.6 % vs. 19.0 %), P<0.05. Logistic regression analyses after adjustment for confounding factors showed that the risk of POF increased with the increase of admission glucose [OR=1.11, 95%CI (1.04, 1.19), P=0.002], minimum blood glucose [OR=1.28, 95%CI (1.10, 1.48), P=0.001] and mean blood glucose [OR=1.18, 95%CI (1.04, 1.33), P=0.010]; with the higher level of coefficient of variation of blood glucose [OR=0.95, 95%CI (0.92, 0.99), P=0.021], the risk of POF decreased. The results of area under the curve (AUC) of the receiver operator curves showed that AG [AUC=0.787, 95%CI (0.735, 0.840)] had the highest accuracy in predicting POF, with sensitivities of 60.0% and specificities of 84.7%. ConclusionHigh admission glucose, minimum blood glucose, mean blood glucose, and low coefficient of variation of blood glucose were risk factors for the development of POF in patients with hyperglycemic AP on admission.
Blood pressure variability (BPV) is a novel predictor related to blood pressure level, and a large number of studies based on the hypertension cohort have shown that BPV is an independent predictor of target organ damages and cardiovascular adverse outcomes. Due to the significant hemodynamic changes, BPV in patients with chronic kidney disease (CKD) and hemodialysis is higher than the simple hypertension cohort, suggesting that BPV may be of great significance to patients with chronic kidney disease and hemodialysis. In recent years, studies based on CKD and hemodialysis cohort have published in succession whose results revealed that BPV of this cohort is of great prognostic significance for predicting target organ damages and cardiovascular disease risks. This article aims to provide an overview on these research, so as to survey and predict the clinical significance of BPV in CKD and hemodialytic patients.
ObjectiveTo observe and analyze the clinical phenotype and genetic characteristics of COL2A1 and COL11A1 de novo mutation (DNM) related Stickler syndrome type Ⅰ and Ⅱ patients. MethodsA family-based cohort study. From December 2023 to November 2024, 4 patients (all probands) with Stickler syndrome diagnosed by clinical and genetic testing in Department of Ophthalmology of People's Hospital of Ningxia Hui Autonomous Region and their parents (8 cases) were included in the study. The patients came from 4 unrelated families. A detailed medical history was taken, and the patients underwent best-corrected visual acuity (BCVA), refraction, and fundus color photography examinations. Systemic examinations included the oral and facial regions, skeletal, joints, and hearing. Peripheral venous blood samples were collected from the patients and their parents, and genomic DNA was extracted. Whole-exome sequencing was used to screen for pathogenic genes and their loci, which were then validated by Sanger sequencing and combined with segregation analysis in the families to identify candidate gene mutation sites. The candidate variants were assessed for pathogenicity according to the American College of Medical Genetics and Genomics (ACMG) criteria and guidelines for the classification of genetic variants. Additionally, cross-species conservation analysis was performed to determine the evolutionary conservation of wild-type amino acids, and protein three-dimensional modeling techniques were used to characterize the spatial conformational changes of the variant proteins and the alterations in their local hydrogen bond networks. ResultsAmong the 4 patients, there were 2 males and 2 females; their ages ranged from 3 to 12 years. There were 2 cases of Stickler syndrome type Ⅰ (proband of families 1 and 2) and 2 cases of type Ⅱ (proband of families 3 and 4). The diopters ranged from −8.00 to−18.00 D. BCVA ranged from no light perception to 0.6-. There were 2 cases each of vitreous membrane-like and “bead-like” opacity. Three cases showed peripapillary atrophy arcs and leopard pattern changes in the retina; one case had bilateral retinal detachment with a large macular hole in the left eye, which had previously been treated with vitrectomy surgery. One case had bilateral sensorineural hearing loss. There were 3 cases of simple micrognathia; one case had a flat nasal bridge, short nose, midface depression, and micrognathia. Two cases had excessive elbow joint extension. The phenotypes of the parents of the 4 patients were normal. Genetic testing results revealed that the probands of families 1 and 2 carried COL2A1 gene c.85+1G>C (M1) splice site variant and c.3950_3951insA (p.M1317Ifs*48) (M2) frameshift variant, respectively; the probands of families 3 and 4 carried COL11A1 gene (NM_001854.4) c.2549 G>T (p.G850V) (M3) missense variant and c.3816+6T>C (M4) splice site variant, respectively. The parents did not carry the related gene variants. Among them, M2, M3, and M4 are newly reported DNM. According to the ACMG guidelines, they were all considered likely pathogenic. The cross-species conservation analysis results showed that the wild-type amino acid of the COL11A1 gene M3 missense variant was highly conserved across multiple different species. Protein local structure modeling analysis revealed that the COL2A1 gene M2 frameshift variant and the COL11A1 gene M3 missense variant significantly altered the tertiary structure conformation of the protein, leading to abnormal spatial arrangement and hydrogen bond network in the key functional domains ConclusionThe COL2A1 gene M1 splice site variant, M2 frameshift variant, and the COL11A1 gene M3 missense variant, M4 splice site variant are respectively the potential pathogenic genes for families 1, 2, and families 3, 4; leading to the onset of Stickler syndrome type Ⅰ in families 1 and 2, and type Ⅱ in families 3 and 4.
Objective To analyze the influencing factors of prognosis of patients with traumatic brain injury (TBI), and explore the influence of hemoglobin (Hb) level combined with blood pressure variability (BPV) on the quality of prognosis of patients with TBI. Methods The data of 186 TBI patients who received systemic treatment in the Affiliated Zhangjiagang Hospital of Soochow University between January 2020 and December 2021 were retrospectively analyzed. According to the Glasgow Outcome Scale (GOS) 3 months after treatment, they were divided into group A (GOS 4-5, 159 cases) and group B (GOS 1-3, 27 cases). The general clinical data, BPV indexes and Hb levels of the two groups were analyzed by single factor analysis and multiple logistic regression analysis, and the predictive value of the logistic regression model was evaluated by receiver operating characteristic (ROC) curve, sensitivity, specificity and area under the curve (AUC). Results There was no statistical significance in gender, age, body mass index, blood urea nitrogen, prothrombin time, fasting blood glucose level, or smoking history (P>0.05); the patients’ Glasgow Coma Scale at admission in group A was higher than that in group B (P<0.05), and the constituent ratio with a history of hypertension of group A was significantly lower than that of group B (P<0.05). The between-group differences in systolic blood pressure (SBP), diastolic blood pressure (DBP), mean arterial pressure (MAP), and Hb at admission, and SBP, DBP, and MAP 72 h after treatment were not statistically significant (P>0.05); the SBP-standard deviation (SD), DBP-SD, SPB-coefficient of variation (CV) and DBP-CV of group B 72 h after treatment were significantly higher than those of group A (P<0.05), and the level of Hb was significantly lower than that of group A (P<0.05). Hb [odds ratio (OR)=0.787, 95% confidence interval (CI) (0.633, 0.978), P=0.031], SBP-CV [OR=1.756, 95%CI (1.073, 2.880), P=0.023] and DBP-CV [OR=1.717, 95%CI (1.107, 2.665), P=0.016] were all independent prognostic factors of TBI patients. The ROC showed that the combined index of BPV and Hb was more valuable than that of single prediction, with an AUC of 0.896 [95%CI (0.825, 0.935), P<0.05]. Conclusions Both BPV and Hb are independent factors affecting the prognosis of TBI patients, and their combined application can more effectively predict the prognosis of TBI patients. Therefore, when treating and evaluating the prognosis of TBI patients, closely monitoring the changes in blood pressure and Hb levels can timely and effectively control the development of the disease, and provide scientific reference for subsequent treatment.
Blood pressure variability (BPV) refers to the fluctuations of blood pressure in a certain period of time. In recent years, BPV is becoming a predictive marker for cardiovascular events. Given the hemodynamic and internal environmental change brought by hemodialysis as well as the complex complications, hemodialysis patients always have complex BPV. Nowadays there is no consensus on an optimal standard to evaluate BPV in hemodialysis population. Metrics usually used are as follows: blood pressure change during a certain period of time, standard deviation, coefficient of variation, variation independent of mean, average real variability, weighted mean of daytime and night-time standard deviation, residual derived from generalized linear models, and residual standard deviation. Impact factors of BPV in hemodialysis patients include age, ultrafitration volume, hemodialysis frequency and time length, peripheral vascular disease, serum calcium, antihypertensive drugs and so on. Recent studies showed significant associations between both long-term and short-term BPV with prognosis of hemodialysis patients. This review focuses on the evaluation methods, the influencing factors and the impact on prognosis of BPV.
Objective To observe and analyze the gene mutation and clinical phenotype of patients with cone and rod dystrophy (CORD). MethodsA pedigree investigarion. Two CORD pedigrees including 2 patients and 6 family members were enrolled in Ningxia Eye Hospital of People' Hospital of Ningxia Hui Automous Region for this study. The patients were from 2 unrelated families, all of whom were probands. Take medical history with best-corrected visual acuity (BCVA), color vision, slit lamp microscopy, indirect ophthalmoscopy, fundus color photography, optical coherence tomography (OCT), autofluorescence (AF), fluorescein fundus angiography (FFA), electroretinogram (ERG). The peripheral venous blood of patients and their parents was collected, whole genome DNA was extracted, Trio whole genome exome sequencing was performed, Sanger verification and pedigree co-segregation were performed for suspected pathogenic mutation sites. According to the law of inheritance, family history was analyzed to establish its genetic type. Mutational loci pathogenicity was analyzed according to the American College of Medical Genetics (ACMG) guidelines and 4 online tools. ResultsTwo CORD families showed autosomal recessive inheritance. The proband of pedigree 1 was female, 49 years old. Binocular vision loss with photophobia lasted for 9 years and night blindness for 4 years. The BCVA of right eye and left eye were 0.03 and 0.06, respectively. The results of ERG showed that the amplitudes of dark adaptation 0.01 b-wave and dark adaptation 3.0 a-wave and b-wave in both eyes were slightly decreased, and the amplitudes of light adaptation 3.0 a-wave and b-wave were severely decreased. The proband of pedigree 2 was male, 30 years old. Vision loss in both eyes for 4 years. Denying a history of night blindness. The BCVA of right eye and left eye were 0.3 and 0.2, respectively. The results of ERG showed that the amplitudes of dark adaptation 0.01 b-wave and dark adaptation 3.0 a-wave and b-wave in both eyes were slightly decreased, and the amplitudes of light adaptation 3.0 a-wave and b-wave were severely decreased. The color of optic disc in both eyes was light red, the macular area was atrophic, the foveal reflection disappeared, and the peripheral retina was punctate pigmentation. The main fundus changes in 2 patients were macular atrophy. The proband of pedigree 1 carried compound heterozygous variations c.439-2A>G (M1) and c.676delT (p.F226fs) (M2) on CDHR1 gene. Her father and mother carried M2 and M1 heterozygous mutations, respectively. The proband of pedigree 2 carried compound heterozygous variations c.2665dupC (p.L889fs) (M3) and c.878T>C (p.L293P) (M4) on C2orf71 gene. His father and mother carried M4 and M3 heterozygous mutations, respectively. According to ACMG guidelines and on line tools, 4 variations were considered as pathogenic level. ConclusionsM1 and M2 of CDHR1 gene and M3 and M4 of C2orf71 gene are new pathogenic mutations of CORD. All patients presented with the clinical phenotype of decreased visual acuity and macular atrophy.
The caudate lobe of the liver has always been regarded as the deepest segment, with most complicated anatomy. The surgeon’s understanding of the caudate lobe and its subsegments has undergone a complex and tortuous process. In recent years, the special view and fine anatomy of the caudate lobe in laparoscopic resection of caudate lobe of liver have been proved or challenged based on the traditional anatomical knowledge of the liver gross specimen, cast specimen and three-dimensional reconstruction. It is these validations and challenges that keep surgeons revising and restoring the caudate anatomy to its true form. This article will discuss these new ideas and describe the laparoscopic total caudate lobectomy in detail from the point of view of a laparoscopic surgeon.
The experience on management of abnormal blood vessels in 128 cases of donor kidney during the tailoring operation was reported. The various techniques used for different types of abnormal arteries and veins, and the critical points which should be paid attention to have been discussed. It was concluded that the multiple renal arteries should be treated in a single renal artery and anastomosed with internal iliac artery or/and external iliac artery. The appropriate management given to abnormal renal blood vessels during the tailoring operation may shorten the warm ishemia time, ensure the renal blood supply, reduce the renal vasular complication, and promote the recovery of renal function.