Agouti Signaling Protein ; Animals ; Central Nervous System ; abnormalities ; metabolism ; pathology ; Energy Metabolism ; Hair Color ; genetics ; physiology ; Humans ; Intercellular Signaling Peptides and Proteins ; metabolism ; Membrane Proteins ; genetics ; metabolism ; physiology ; Mutation ; Obesity ; genetics ; metabolism

Autosomal recessive cutis laxa is a common type of hereditary cutis laxa. Its pathogenesis is not completely clear, but involved genes and their corresponding functions and signaling pathways have gradually become the research focus. According to the latest research, the related genes and their responding signaling pathways not only provide a solid foundation for the pathogenesis of cutis laxa, but also indicate a direction for instructing healthy pregnancy and scientific nurture. This paper aims to review the recent advances in pathogenic genes and potential signaling pathways in autosomal recessive cutis laxa.

AIM: To study eye position control ability in patients with different types of intermittent strabismus.

METHODS: Totally 146 patients with intermittent strabismus treated in our hospital from September 2013 to April 2015 were enrolled in the study. The patients were divided into three groups according to the different types of the patients with intermittent strabismus. Fifty-five patients who had been separated from the strong type were used as part of the strong group,the basic type of 48 cases as the basic group,44 cases of collection insufficiency patients were set up as collection insufficiency group. Visual function and postoperative eye correction of the three groups were analyzed.

RESULTS: There were no differences in visual function among the three groups before operation, and the visual function of the three groups were improved after operation, and there was no difference among the three groups(P>0.05).The positive rates were 83.3%,81.2% and 54.6% of the strong group, basic group and collection insufficiency group respectively. There was no difference between the strong group and basic group,(P>0.05).There were significant differences between the strong group, basic group with collection insufficiency group(P<0.05).

CONCLUSION: Operations for intermittent external strabismus is different according to different types. The prognosis of the strong group and basic group is good and the prognosis of collection insufficiency group is poor.

AIM: To explore the effect and safety of pars plana vitrectomy(PPV)assisted by intravitreal injection of conbercept in the treatment of proliferative diabetic retinopathy(PDR)combined with vitreous hemorrhage(VH).

METHODS: In the prospective randomized controlled study, patients with PDR and VH who were admitted to ophthalmology department of the hospital from February 2017 to September 2019 were enrolled as the research objects. They were randomly divided into observation group(39 cases, 39 eyes)and control group(38 cases, 38 eyes). Both groups underwent standard 27G PPV. The observation group underwent intravitreal injection of conbercept within 6-7d before surgery. The perioperative indexes were collected. The best corrected visual acuity(BCVA), intraocular pressure and central macular thickness(CMT)were followed up. The occurrence of surgical related complications was statistically analyzed.

RESULTS: Operation time(74.18±15.26 vs 96.17±14.27min), number of bleeding eyes(8% vs 37%), ratio of silicone oil filling(18% vs 53%)and incidence of iatrogenic retinal breaks(15% vs 47%)were lower in observation than control group(P<0.05). BCVA at 1mo after surgery(0.33±0.10 vs 0.60±0.21), 3mo after surgery(0.29±0.08 vs 0.59±0.30)and 6mo after surgery(0.28±0.10 vs 0.66±0.25)were significantly better in observation than control group(P<0.05). CMT at 3mo after surgery(252.15±56.96 vs 278.41±57.48μm)and 6mo after surgery(239.65±41.52 vs 268.59±33.71μm)were significantly better in observation than control group(P<0.05). During follow up, the incidence rates of VH in observation group and control group were 5% and 21%, respectively(P<0.05). In control group, there were 3 eyes(8%)with tractional retinal detachment after surgery, while there was no tractional retinal detachment in observation group(P>0.05).

CONCLUSION: For patients with PDR and VH, intravitreal injection of conbercept before PPV can shorten operation time, reduce intraoperative blood loss and alleviate macular edema to obtain better visual acuity, with better curative effect and safety.

AIM:To evaluate the clinical effect of 25G pars plana vitrectomy(PPV)combined with intraocular lens(IOL)ciliary sulcus suture fixation and replacement of IOL capsular bag complex.

METHODS: A retrospective analysis of 21 patients(21 eyes)in our hospital who applied 25G PPV combined with IOL ciliary sulcus suture and fixation replacement in our hospital from January 2015 to January 2020 to treat the IOL capsular complex completely detached from the clinical data.

RESULTS: All the cases were successfully removed the dislocated IOL complex during the operation. There was no iatrogenic retinal damage. During the operation, 4 cases(4 eyes)were found to have the retina hole, 2 cases(2 eyes)were found to be retinal lattice degeneration area, which were treated with laser photocoagulation of the retina. Follow-up for 6-18mo, best corrected visual acuity(BCVA)(LogMAR)increased from 0.40±0.30 before operation to 0.33±0.25 after operation(P=0.040). The BCVA at the last follow-up of all cases reached the BCVA before surgery. The absolute value of the difference between the postoperative spherical equivalent power and the preoperative IOL refractive power prediction value is less than or equal to 0.75D. At the last follow-up, the position of the intraocular lenses in all cases was good, and there were no complications such as retinal detachment.

CONCLUSION: The technique of 25G PPV and the exchange of IOL ciliary sulcus fixation with intraocular IOL capsule complex is a safe and effective procedure for dislocation of IOL-capsular bag complex entirely into the vitreous cavity.

Objective To observe the effect of comprehensive rehabilitation combined with home-based direction on spastic cerebral palsy.Methods 42 children with spastic cerebral palsy were divided into treatment group (n=21) and control group (n=21). The treatment group accepted comprehensive rehabilitation and home adjusted. Their parents participated in the rehabilitation and received home-based direction.The control group resigned the rehabilitation for poverty or other reasons, without home adjusted. They were assessed with Gross Motor Function Measure (GMFM-88) and Activities of Daily Living of Cerebral Palsy before and 6 months after treatment. Results The scores of GMFM-88 and Activities of Daily Living of Cerebral Palsy improved in the treatment group after treatment (P<0.05), and improved more in the treatment group than in the control group (P<0.05). Conclusion Rehabilitation training combined with home-based direction could improve the gross motor function and activities of daily living in children with spastic cerebral palsy.

【Objective】 To explore the clinical value of thromboelas-tography, coagulation four items and platelet count in guiding platelet transfusion in critically ill patients. 【Methods】 A total of 188 critically ill patients in Intensive Care Unit of our hospital from January 2020 to January 2022 were selected as subjects, and were divided into study group(n=89) and the control(n=99) according to the presence of bleeding symptoms. T-test was used for comparative analysis between the two groups. Spearman was used to analyze the correlation between TEG, coagulation four items and platelet count, and binary Logistic regression analysis was used to predict the influential factors of bleeding in critically ill patients, ROC curve was used to analyze the guiding value of the above-mentioned indexes for platelet transfusion. 【Results】 1) K and PT values in the study group, above the normal range, were significantly higher than those in the control, while the Angle value, MA value, CI value, FIB value and platelet count were significantly lower than those of the control, among which MA value, CI value and platelet count were below the normal range. 2) TEG, coagulation four items and platelet count were correlated. MA and CI values were positively correlated with platelet count, instead, R and K values were negatively correlated. R value was positively correlated with PT and APTT, CI value, on the contrary, was negatively correlated, K value was positively correlated with PT, while Angle value and MA value were negatively correlated. 3) Binary Logistic regression analysis showed that decreased MA value and decreased platelet count were independent risk factors for predicting bleeding in critically ill patients(P<0.05). 4) ROC curve analysis showed that the areas under ROC curve corresponding to Angle value, MA value, CI value, FIB value and platelet count were 0.866, 0.932, 0.9, 0.838 and 0.987(P<0.05). The sensitivity was highest in platelet count and lowest in FIB. The specificity was highest in MA and lowest in Angle. Compared with the single index, the area under the curve of the combined index(K value, MA value, CI value, PT value and platelet count) was 0.995(P<0.05), Yoden index 0.944, sensitivity 100%, specificity 93.3%, all higher than the individual index. 【Conclusion】 Thromboelas-tography combined with coagulation four items and platelet count can be used to accurately predict the critically ill patients with bleeding risk. To guide clinical platelets transfusion, the combined use of indexes, including K value, MA, CI value, PT and platelet count, is superior to separate use of them as the former showed better sensitivity and specificity, demonstrating a good clinical value.

[Abstract] Objective To investigate the optimal screw configuration for internal fixation of femoral neck fractures based on anatomic analysis on radiologic imaging. Methods From January to February 2017, thirty proximal femurs of 15 nonnal adults from Picture Archiving and Communication Systems (PACS) of Paople' s Hospibal of Anji were constructed by CT. 8 males and 7 females with a mean age of (43±8. 5) years (ranging from 28 to 63 years) .The medial femoral neck sections (FNS) were projected on the lateral femoral trochanteric wall. The simulated three screw configurations in the projection of FNS include: two inverted equilateral triangles symmetrized to the axis of the FNS (IET-FNS group) or the coronal axis of the proximal femur (IET-PF group) and an obtuse triangle (OT group).The distance between the screws, the distance between the centre of the FNS and the screws, and the area ratio of the triangle/FNS were calculated. Results The projection of the FNS on the lateral femoral trochanteric wall was displayed as a rotating forward ellipse. Measurements of distance between screws

Objective To explore the association between the single nucleotide polymorphism（SNP）of the core clock genes（ARNTL rs6486122 and PER1 rs2253820）of the circadian molecular clockwork and the incidence of ischemic stroke. Methods Candidate SNP genotypes were determined using the SNaPshot method. Genotypes were set as categorical variables. Logistic regression analysis was performed to compare genotypes and genetic models between the disease group and the control group，adjusting for related risk factors including age，sex，dyslipidemia，and past medical history，and the adjusted odds ratios（OR）and 95% confidence intervals（CI）of different genotypes and genetic models were calculated. Results The multivariable logistic regression analysis showed that the risk of stroke increased significantly with the age of subjects（OR=6.704，95%CI 5.188-8.644，P<0.001）；patients with hypertension had a 2.565-fold increased risk of ischemic stroke compared with individuals without hypertension（OR=2.565，95%CI 1.971-3.338，P<0.001）；patients with dyslipidemia were 1.700 times more likely to have ischemic stroke than individuals with normal blood lipid levels（OR=1.700，95% CI 1.230-2.348，P=0.001）；and increased systolic and diastolic blood pressure levels also increased the risk of stroke. For the rs2253820 locus of the PER1 gene，using the wild-type homozygous TT genotype as the reference，the CT genotype，CC genotype，and dominant genetic model significantly increased the risk of stroke（CT vs TT：OR=1.552，95% CI 1.194-2.018，P=0.001；CC vs TT： OR=1.295，95% CI 1.035-1.621，P=0.024；and the dominant model：OR=1.563，95% CI 1.215-2.012，P=0.001，respectively）. For the rs6486122 locus of the ARNTL gene，there was no significant association of any genotype or the genetic model with the incidence of ischemic stroke after adjustment（P > 0.05）. Conclusion Genetic variation at PER1 rs2253820 can increase the risk of ischemic stroke，where the C allele poses a higher risk of ischemic stroke. There is no significant association between ARNTL rs6486122 and the occurrence of ischemic stroke.

Objective::To observe the clinical efficacy of Dahuang Zhuyu decoction for oral administration and enema on severe acute pancreatitis with syndromes of blood stasis and toxin and its effect on serum inflammatory factors. Method::Sixty eight patients with severe acute pancreatitis with syndromes of blood stasis and toxin who were admitted in Henan Provincial People's Hospital from September 2017 to December 2018 were randomly divided into treatment group (34 cases) and control group (34 cases). The control group was treated with western medicine. The treatment group was treated with Dahuang Zhuyu decoction for oral administattion and enema in addition to the therapy of the control group. Both groups were treated for 7 days. Before and after treatment, abdominal pain, bloating, nausea and vomiting were scored separately, serum amylase (AMS), lipase (LPS), interleukin-6 (IL-6), interleukin-10 (IL-10) and tumor necrosis factor-α (TNF-α) were detected, and abdominal pain disappearance time, bloating disappearance time and exhaust recovery time were recorded. Result::After treatment, the abdominal pain score, abdominal distension score, nausea and vomiting score, serum AMS, LPS, IL-6 and TNF-α were lower than those before treatment (P<0.05), and those in treatment group was lower than those in control group (P<0.05). After treatment, IL-10 level in both groups was higher than those before treatment (P<0.05), and that in treatment group was higher than that in control group (P<0.05). The disappearance time of abdominal pain, the disappearance time of abdominal distension and the recovery time of exhaust were shorter in treatment group than in control group (P<0.05). The total effective rate of the treatment group was higher than that of the control group (P<0.05). Conclusion::Dahuang Zhuyu decoction for oral administration and enema for severe acute pancreatitis with syndromes of blood stasis and toxin can alleviate clinical symptoms, reduce amylase and lipase levels, inhibit the expression of pro-inflammatory factors, promote the expression of anti-inflammatory factors, restore intestinal function, and improve clinical efficacy.