Estimation of the genetic parameters of sheep growth traits based on machine vision acquisition.

In the realm of animal phenotyping, manual measurements are frequently utilised. While machine-generated data show potential for enhancing high-throughput breeding, additional research and validation are imperative before incorporating them into genetic evaluation processes. This research presents a method for managing meat sheep and collecting data, utilising the Sheep Data Recorder system for data input and the Sheep Body Size Collector system for image capture. The study aimed to investigate the genetic parameter changes of growth traits in Ujumqin sheep by comparing machine-generated measurements with manual measurements. The dataset consisted of 552 data points from the offspring of 75 breeding rams and 399 breeding ewes. Six distinct random regression models were assessed to pinpoint the most suitable model for estimating genetic parameters linked to growth traits. These models were distinguished based on the inclusion or exclusion of maternal genetic effects, maternal permanent environmental effects, and covariance between maternal and direct genetic effects. Fixed factors such as individual age, individual sex, and ewe age were taken into account in the analysis. The genetic parameters for the yearling growth traits of Ujumqin sheep were calculated using ASReml software. The Akaike information criterion, the Bayesian information criterion, and fivefold cross-validation were employed to identify the optimal model. Research findings indicate that the most accurate models for manually measured data revealed heritability estimates of 0.12 ± 0.15 for BW, 0.05 ± 0.07 for body slanting length, 0.03 ± 0.07 for withers height, 0.15 ± 0.12 for hip height, 0.11 ± 0.11 for chest depth, 0.13 ± 0.13 for shoulder width, and 0.53 ± 0.15 for chest circumference. The optimal models for machine-predicted data showed heritability estimates of 0.1 ± 0.09 for body slanting length, 0.14 ± 0.12 for withers height, 0.55 ± 0.15 for hip height, 0.34 ± 0.15 for chest depth, 0.26 ± 0.15 for shoulder width, and 0.47 ± 0.16 for chest circumference. In manually measured data, genetic correlations ranged from 0.35 to 0.99, while phenotypic correlations ranged from 0.07 to 0.90. In machine data, genetic correlations ranged from -0.05 to 0.99, while phenotypic correlations ranged from 0.03 to 0.84. The results suggest that machine-based estimations may lead to an overestimation of heritability, but this discrepancy does not impact the selection of breeding models.

Effectiveness of cannulated screw fixation for femoral neck fracture assisted by three-dimensional printing navigation template in middle-aged and elderly patients.

OBJECTIVE: We sought to explore the effectiveness of cannulated screw fixation for femoral neck fractures in middle-aged and elderly patients assisted by a three-dimensional printing navigation template. PATIENTS AND METHODS: A total of 98 middle-aged and elderly patients who underwent cannulated screw fixation for femoral neck fractures were retrospectively analyzed. They were allocated into two groups, each comprising 49 patients. Surgical indexes, hip function, and pain levels were compared between the two groups. RESULTS: The study group, assisted by the three-dimensional printing navigation template, exhibited significantly reduced nail insertion, fewer instances of C-arm fluoroscopy, shorter operation time, quicker time to bone union, earlier initiation of walking exercise, shorter time to weight-bearing walking, and reduced hospital stay than those in the control group (all p<0.001). However, the study group also experienced higher blood loss compared to the control group (p<0.001). Postoperatively, at 3 months and 12 months, the study group demonstrated significantly higher scores compared to the control group (both p<0.001) and reported significantly lower pain scores than that in the other group at 1 week and 12 months post-surgery (both p<0.001). Furthermore, the study group experienced significantly fewer postoperative complications than the control group (p=0.029). CONCLUSIONS: Cannulated screw fixation for femoral neck fractures assisted by a 3D printing navigation template is more effective and safer than traditional fixation methods. This approach represents a promising alternative for surgical management.

[A combined regimen based on bortezomib and glucocorticoids for 6 patients with recurrent/refractory immune thrombotic thrombocytopenic purpura].

Objective: To observe the efficacy and adverse reactions of a combination therapy regimen based on bortezomib and glucocorticoids in recurrent/refractory immune thrombocytopenic purpura (iTTP) . Methods: Six patients with recurrent/refractory TTP were included and treated with a glucocorticoid and two courses of bortezomib-based regimen. The clinical remission status of patients, changes in ADAMTS13 activity/ADAMTS13 inhibitor, and the occurrence of treatment-related adverse reactions were observed. Results: Of the 6 patients, 2 were males and 4 were females, with a median age of 21.5 (18-68) years. Refractory TTP was found in 1 case and recurrent TTP in 5 cases. Glucocorticoids were administered with reference to prednisone at 1 mg·kg(-1)·d(-1), and gradually reduced in dosage after achieving clinical remission. Bortezomib is subcutaneously administered at 1.3 mg/m(2) on days 1, 4, 8, and 11 with a 28-day treatment course consisting of 2 courses. Six patients achieved clinical remission after receiving bortezomib as the main treatment. ADMATS13 activity returned to normal in all patients with TTP after treatment, and the ADAMTS13 inhibitor turned negative. Thrombocytopenia is the most common adverse reaction after treatment, with other adverse reactions, including peripheral neuritis and abdominal pain, but ultimately all patients returned to normal. In a median follow-up of 26 (9-41) months, 5 patients maintained sustained remission, and 1 patient relapsed after 16 months of bortezomib treatment. Conclusion: Combination therapy of bortezomib and glucocorticoids has a satisfactory therapeutic effect and controllable adverse reactions for recurrent/refractory iTTP.

[Clinical diagnosis and treatment of hereditary thrombocytopenia and purpura: a report of five cases and literature review].

Objective: To report the clinical manifestations and laboratory features of five patients with congenital thrombotic thrombocytopenic purpura (cTTP) and explore its standardized clinical diagnosis and treatment along with a review of literature. Methods: Clinical data of patients, such as age of onset, disease manifestation, personal history, family history, and misdiagnosed disease, were collected. Treatment outcomes, therapeutic effects of plasma infusion, and organ function evaluation were observed. The relationship among the clinical manifestations, treatment outcomes, and ADAMTS13 gene mutation of patients with cTTP was analyzed. Additionally, detection of ADAMTS13 activity and analysis of ADAMTS13 gene mutation were explored. Results: The age of onset of cTTP was either in childhood or adulthood except in one case, which was at the age of 1. The primary manifestations were obvious thrombocytopenia, anemia, and different degrees of nervous system involvement. Most of the patients were initially suspected of having immune thrombocytopenia. Acute cTTP was induced by pregnancy and infection in two and one case, respectively. ADAMTS13 gene mutation was detected in all cases, and there was an inherent relationship between the mutation site, clinical manifestations, and degree of organ injury. Therapeutic or prophylactic plasma transfusion was effective for treating cTTP. Conclusions: The clinical manifestations of cTTP vary among individuals, resulting in frequent misdiagnosis that delays treatment. ADAMTS13 activity detection in plasma and ADAMTS13 gene mutation analysis are important bases to diagnose cTTP. Prophylactic plasma transfusion is vital to prevent the onset of the disease.

[The diagnostic value of PLASMIC score in the discrimination between thrombotic thrombocytopenic purpura and disseminated intravascular coagulation].

Objective: PLASMIC score was evaluated its value in differential diagnosis between the patients with thrombotic thrombocytopenic purpura (TTP) and those with disseminated intravascular coagulation (DIC) . Method: Twenty-four patients with TTP and 41 cases with DIC were retrospectively analyzed in this study. The platelet count, average red blood cell volume, indirect bilirubin, creatinine and prothrombin time international normalised ratio were collected, and then PLASMIC scores were calculated. Results: According to the risk classification of PLASMIC score, three (12.5%) TTP patients had moderate risk, and the rest 21 (87.5%) cases had high risk. In DIC patients, 92.7% cases were in low risk group, 4.9% at moderate risk, and only one case had high risk. Of these 65 patients, the sensitivity and the specificity to TTP of the high risk of the scoring system were 87.5% and 97.6%, respectively. Conclusion: The patients with high risk of PLASMIC score correlated well with clinical TTP diagnosis. The scoring system showed to be an excellent diagnostic model to distinguish TTP patients from those with DIC.

[The effect of L-carnitine on the apoptosis of human lens epithelial cells through endoplasmic reticulum stress].

Objective: To investigate the effect of L-carnitine on the apoptosis of human lens epithelial cells through endoplasmic reticulum (ER) stress pathway. Methods: HLE-B3 cell lines were used to set up an oxidative stress model with H(2)O(2) treatment for 12 h, and lead to ER stress. Cells were divided into four groups: H(2)O(2) group, L-carnitine (100 µmol/L) with H(2)O(2) group, phosphate buffered saline (PBS) group and L-carnitine (100 µmol/L) group. Cell counting kit-8 was used to detect the cell viability under the treatment of different concentrations (200, 400, 600 and 800 µmol/L) of H(2)O(2). The apoptosis ratio of HLE-B3 treated by 400 µmol/L H(2)O(2) was tested by flow cytometry. When HLE-B3 was treated by 400 µmol/L H(2)O(2), the expression levels of cysteinyl aspartate specific proteinase 3 (caspase-3) gene and glucose-regulated protein 78 (GRP78) gene were measured by RT-PCR, and the expression levels of caspase-3 protein and GRP78 protein were assayed by Western blotting. Data from groups was analyzed by the one-way analysis of variance, and the LSD-t test was used for the comparison of groups. Results: Cell counting kit-8 assay showed that when H(2)O(2) concentration was 200, 400, 600 and 800 µmol/L, there was significant difference in the H(2)O(2) group(77.6%±0.8%,58.1%±3.1%,39.2%±1.5%,28.1%±2.2%), L-carnitine with H(2)O(2) group(83.3%±4.2%,74.5%±3.1%,46.4%±1.7%,32.4%±1.2%), PBS group(97.6%±2.1%,98.3%±0.2%,96.3%±2.2%,98.5%±1.1%) and L-carnitine group(98.5%±1.3%, 96.1%±2.1%, 98.1%±0.2%, 97.3%±1.4%) (all P<0.05). There was no significant difference between groups (PBS group compared to L-carnitine group, all P>0.05). When the concentration of H(2)O(2) was 400 µmol/L, the survival rate of the L-carnitine with H(2)O(2) group was higher than the H(2)O(2) group. The difference was statistically significant (t=18.14, P=0.020). With increasing of the H(2)O(2) concentration, cell necrosis was increased. The cell survival rate had no significant difference between the L-carnitine with H(2)O(2) group and H(2)O(2) group (both P>0.05). Flow cytometry results of the H(2)O(2) group, L-carnitine with H(2)O(2) group, PBS group and L-carnitine group were 31.4%±4.5%, 16.5%±2.8%, 2.1%±0.2% and 1.9%±1.8%, respectively (F=126.784, P=0.024) . The rate of apoptosis in the L-carnitine with H(2)O(2) group was lower than that in the H(2)O(2) group (t=24.67, P=0.013). There was no significant difference between the PBS group and L-carnitine group (P>0.05). The results of RT-PCR showed that the expression of caspase-3 mRNA in the L-carnitine with H(2)O(2) group was lower than the H(2)O(2) group (0.424±0.041 vs. 0.752±0.203), and the expression of GRP78 mRNA in the L-carnitine with H(2)O(2) group was lower than the H(2)O(2) group (0.521±0.223 vs. 0.821±0.103). The difference was statistically significant (caspase-3: t=27.92, P=0.018;GRP78: t=16.31, P=0.019). Western blotting showed that the protein expression of caspase-3 in the L-carnitine with H(2)O(2) group was lower than the H(2)O(2) group (0.712±0.212 vs. 1.126±0.251), and the GRP78 protein expression in the L-carnitine with H(2)O(2) group was lower than the H(2)O(2) group (0.512±0.012 vs. 0.735±0.051). The difference was statistically significant (caspase-3: t=15.43, P=0.010;GRP78: t=20.62, P=0.018). Conclusion: L-carnitine can reduce the apoptosis rate of HLE-B3 during oxidative stress through ER stress pathway. (Chin J Ophthalmol, 2018, 54: 363-368).

[CYP2C19 genetic polymorphism and monitoring voriconazole plasma concentrations in the treatment and prevention of invasive fungal disease for hematological patients].

Objective: To evaluate the effects of CYP2C19 genetic polymorphism on the plasma concentration of voriconazole in patients with hematological disease and the value of serial monitoring plasma concentrations in the treatment and prevention of invasive fungal disease (IFD). Methods: From January 2016 to December 2016, 65 hematological patients who received voriconazole intravenous administration for the treatment of invasive fungal disease were enrolled in this study. The population CYP2C19 polymorphism of voriconazole were performed using PCR-Pyrosequencing. The trough plasma concentrations of vriconazole (Ctrough) was detected by ultra performance liquid chromatography tandem mass spectrometry. Results: Based on the genotype analysis, 65 subjects were identified as extensive metabolizers' group (30 cases) and poor metabolizers' group (35 cases). The Ctrough of the 65 patients were detected for 169 times totally, and there was a significant difference of Ctrough values between the two groups [0.98(0.38-2.08) mg/L vs 2.19(1.53-4.27) mg/L, z=10.286, P<0.001]. The medium of Ctrough in 65 hematological patients were described. Lack of response to therapy was more frequent in patients with voriconazole levels <1.5 mg/L (50.0%) than in those with voriconazole levels >1.5 mg/L (20.5%) (P=0.052). And the risk of adverse events was more frequent in patients with voriconazole levels >5.5 mg/L (80.0%) than in those with voriconazole levels ≤5.5 mg/L (8.3%) (χ2=11.689, P=0.020). Conclusion: Patients with CYP2C19 wild-type phenotype are extensive metabolizers, their Ctrough of voriconazole are significantly lower than patients with CYP2C19 non-wild-type phenotype (poor metabolizers). Appropriate concentrations of vriconazole can improve the efficacy and safety during treatment.

Comparative study: efficacy of closed-looptarget controlled infusion of cisatracurium and other administration methods for spinal surgery of elderly patients.

OBJECTIVE: To observe the efficacy of traditional administration, continuous pump injection, and closed-loop target controlled infusion of cisatracurium to determine the optimal method of drug administration, and to establish the individualized and rational administration of muscle relaxants in elderly patients. PATIENTS AND METHODS: A total of 150 patients who underwent spinal surgery under tracheal intubation general anesthesia in our hospital from August 2013 to April 2015 were selected. All patients were administered with general anesthesia and randomly divided into three groups: group A (n = 50) was treated under closed-loop target controlled infusion (CLTCI), group B (n = 50) was treated under muscle relaxation monitoring, and group C (n = 50) was treated under continuous pump injection. Hemodynamic changes and blood oxygen saturation of the three groups were observed, and the muscle relaxation recovery, dosage, and bleeding of the three groups were compared. RESULTS: MAP and HR of group A were significantly lower than those of group B and group C (p < 0.05). There were no cases of insufficient muscle relaxation in group A, five cases in group C, and 14 cases in group B, and the differences between any two groups were statistically significant (p < 0.05). Regarding muscle relaxation recovery, the time (T¬¬1) of recovery from 10%-25% and 25%-75%, and the time from drug withdrawal to recovery to TOFr from 0.7-0.9 of group A were the shortest, followed by group C and group B. The differences between any two groups were statistically significant (p < 0.05). The total dosage of cisatracurium of group A was the least, followed by group C and group B, and differences between any two groups were statistically significant (p < 0.05). Moreover, the bleeding volume of group A (235.2 ± 141.3 ml) was smaller than in group B (353.1 ± 173.8 ml) and group C (316.5 ± 155.2 ml), and differences between the three groups were statistically significant (p < 0.05). CONCLUSIONS: For spinal surgery of elderly patients, closed-loop target controlled infusion of cisatracurium was superior to continuous infusion and intravenous injection. The time of muscle relaxation recovery was shortened, the dosage of cisatracurium was reduced, and the number of cases of insufficient muscle relaxation was reduced.

Association between matrix metallopeptidase 1 and type 2 diabetes mellitus coexisting with coronary heart disease in a Han Chinese population.

Matrix metallopeptidase 1 (MMP-1) has been reported to be involved in the coexistence of type 2 diabetes mellitus (T2DM) and coronary heart disease (CHD). We sought to examine the association between the MMP-1 gene polymorphism and coexistence of T2DM and CHD in a Han Chinese population. We extracted genomic DNA from the peripheral blood of 794 subjects, including 378 patients with coexisting T2DM and CHD and 416 healthy controls. We selected several single nucleotide polymorphisms of the MMP-1 gene and genotyped them using the MassARRAY system, before analyzing the data with Haploview 4.0 and SPSS 20.0. A statistical difference was found in the distribution of rs1799750 genotypes between the patient and control groups (P = 0.041). The frequency of the 2G/2G genotype was 44.25 and 37.0% among patients and control subjects, respectively. Moreover, the frequency of the 2G allele was 65.9% among patients and 59.6% in the control group, and this difference was found to be significant (P = 0.010). Elevated body mass index was also associated with the 2G/2G genotype. Thus, MMP-1 rs1799750 may be involved in the development of coexisting T2DM and CHD in the Han Chinese population.