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Axenfeld-Rieger syndrome is a rare autosomal dominant hereditary disease characterized by anterior segment dysgenesis, which may be accompanied by various systemic defects, including craniofacial dysmorphism, hypodontia, microdontia, and redundant periumbilical skin.Its typical ocular manifestations include posterior embryotoxon, iris hypoplasia, peripheral anterior synechiae, corectopia and polycoria with a high prevalence of glaucoma.Patients can exhibit any combination of these features.However, family members with the same genotype may present different phenotypes due to phenotypic heterogeneity.Emerging evidence suggests that PITX2 and FOXC1 genes encoding transcription factors are primarily associated with genetic variants in ARS.Intragenic mutations and gene deletions are common types of genetic variations suspected to trigger changes in gene dosages and protein function.However, the underlying molecular mechanism remains unclear.Some patients with ARS carry mutations in the COL4A1, PRDM5, and CYP1B1 genes, but the pathogenicity of these variations has yet to be confirmed by further studies.This article provided an overview of the typical clinical features, potential correlations between phenotype and genotype, as well as gene function.
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Minimally invasive glaucoma surgery (MIGS) has been successfully incorporated in clinical practice in recent years.Increasing evidence shows that it also plays an important role in the treatment of primary angle-closure glaucoma (PACG). Goniosynechialysis (GSL) is a key surgical procedure used by MIGS for PACG, which involves separating the peripheral anterior synechia and reopening the angle.However, there is still a lack of uniform standards for indications and surgical procedures.Therefore, it is necessary to formulate a detailed and complete expert consensus on surgical procedures to standardize the application of clinicians in the treatment.
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Primary angle-closure glaucoma (PACG) is still one of the common blinding eye diseases in China.Because of the irreversibility of the vision loss it caused, the factors affecting the early development of glaucoma are of great concern.The understanding of static anatomic structure of high-risk anterior segment, such as shallow anterior chamber, short axial length, thick iris and large anterior lens cannot fully explain the transformation process of PACG, so the specific role of dynamic changes in the development of glaucoma should be further considered.This article expounded the differences in iris volume and dynamic process of elasticity between normal people and patients with PACG, the incoordination between lens and intraocular structure during eyeball development, the dynamic block and expansion of ciliary body, vitreous and choroid, and the latest research on the relationship between the abnormal ocular nerve and vascular system adjustment and change with the onset of PACG, in order to provide guidance for understanding the pathogenesis of PACG, accurate clinical diagnosis and formulation of treatment strategies.
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Minimally invasive glaucoma surgery (MIGS) has been successfully incorporated in clinical practice in recent years.Increasing evidence shows that MIGS also plays an increasingly important role in the treatment of primary angle-closure glaucoma (PACG). Surgical peripheral iridectomy (SPI) plus goniosynechialysis (GSL) and goniotomy (GT), as a new procedure, has been proven to be safe and effective in the treatment of PACG with no or mild cataracts.However, there is still a lack of uniform standards for indications, surgical procedures, and perioperative medication.Therefore, it is necessary to formulate a detailed and complete expert recommendations on surgical procedures to standardize the application of combined SPI+ GSL+ GT in the treatment.Some experts in glaucoma treatment and management in China have discussed the current problems and developing trend in MIGS for PACG and put forward the expert recommendations of standard process, including indications, anaesthetic methods, surgical site, operating procedure and rational administration of drugs in perioperation, in order to standardize the medical process of clinicians using combined SPI+ GSL+ GT in PACG treatment and lay a foundation for better evaluation of the efficacy of MIGS.
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With high incidence, high disability rate and serious impact on patients' quality of life, advanced primary angle-closure glaucoma (PACG) with cataract is a severe eye disease in China and its main treatment method is surgery.Phacoemulsification cataract extraction and intraocular lens implantation (PEI) combined with trabeculectomy has been used to treat advanced PACG with cataract, but there are many postoperative complications.Recently, combined PEI, goniosynechialysis (GSL) and goniotomy (GT) has been proven to be a safe and effective surgical treatment for advanced PACG with cataract.At present, the combined PEI+ GSL+ GT surgery has been widely applied, but there is still a lack of uniform standards for its clinical application.Therefore, it is necessary to formulate a detailed and complete recommendation of the surgical procedures for PEI+ GSL+ GT, to standardize its application in clinical practice.Based on the analysis of the existing problems, some glaucoma experts in China have formulated detailed and complete operation norms, as well as expert recommendations on surgical indications and contraindications, anesthetic methods, surgical techniques and perioperative medication to standardize the application process of PEI+ GSL+ GT in clinical practice.
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ObjectiveTo investigate the effect of hyperbaric oxygen combined with dynamic scalp acupuncture on motor function for stroke patients with hemiplegia, and compare the effect of dynamic scalp acupuncture inside or outside hyperbaric oxygen chamber. MethodsFrom January, 2021 to June, 2022, 72 stroke inpatients with hemiplegia in Fuyang People's Hospital were randomly divided into control group (n = 24), combination group 1 (n = 24) and combination group 2 (n = 24). All the patients received routine treatment, while the control group received dynamic scalp acupuncture, the combination group 1 received hyperbaric oxygen and dynamic scalp acupuncture outside the hyperbaric oxygen chamber, and the combination group 2 received hyperbaric oxygen and dynamic scalp acupuncture inside the hyperbaric oxygen chamber, for four weeks. They were assessed with National Institutes of Health Stroke Scale (NIHSS), modified Barthel Index (MBI), Berg Balance Scale (BBS), and Fugl-Meyer Assessment (FMA) before and after treatment. The rest pulse oximetry saturation (SpO2)，the lowest SpO2 (SpO2L) and the variation of SpO2 (ΔSpO2) were measured in the first and last treatment. ResultsThe scores of NHISS, MBI, BBS and FMA increased in all the groups after treatment (|t| > 7.681, P < 0.001), and they were more in both the combination group 1 and the combination group 2 than in the control group (P < 0.05). During the first and last treatment, the rest SpO2 and SpO2L increased in the combination group 2 compared with the control group and the combination group 1 (P < 0.05), while ΔSpO2 decreased (P < 0.05); and SpO2L increased in the combination group 1 compared with the control group during the last treatment. ConclusionThe combination of hyperbaric oxygen and dynamic scalp acupuncture can significantly improve motor function and oxygen-carrying capacity in stroke patients with hemiplegia.
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Objective:To identify disease-causing variation in a Chinese family with Axenfeld-Rieger syndrome (ARS) through the analysis of clinical symptoms and hereditary information.Methods:The method of pedigree investigation was adopted.A Chinese ARS family including 15 family members of 3 generations was recruited in the Second Affiliated Hospital of Harbin Medical University in 2018.There were 3 patients in the family.The family history and clinical data were collected.Ophthalmic and general examinations were carried out in all the members included.DNA and RNA were extracted from collected peripheral venous blood samples of 2-5 ml from each member.Whole exome sequencing was used to screen the variations in the proband.Suspected variations screened through searching population databases and bioinformatics analysis were verified by Sanger sequencing and real-time quantitative PCR.Conservation analysis and deleteriousness prediction of suspected variations were conducted.The pathogenecity of candidate rare variations were evaluated according to the American College of Medical Genetics and Genomics (ACMG) standards and guidelines.This study followed the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of the Second Affiliated Hospital of Harbin Medical University (No.KY2019-231).Written informed consent was obtained from each subject or custodian prior to entering the study cohort.Results:The 3 patients all had typical ARS clinical features in eyes, teeth and umbilicus, and carried the same heterozygous variant, c.525delC (p.Asp175Glufs *) in the PITX2 gene, which were not found in other members, indicating co-segregation.The relative expression of PITX2 mRNA was 0.672±0.063 in the patients, which was significantly lower than 1.015±0.179 in the healthy controls ( t=8.847, P<0.001).This variant was not recorded in dbSNP, 1000G, gnomeAD, ExAC, Korea1K and EVS databases, and it was labelled as deleterious by MutationTaster.The affected conservative amino acid sequences were found in 9 species.The variant was determined as pathogenic according to the ACMG standards and guidelines. Conclusions:The c.525delC (p.Asp175Glufs *) mutation of PITX2 gene is pathogenic in the pedigree.This is the first time that this mutation has been reported in Chinese family with ARS.
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Objective:Investigating the distribution of intestinal Akkermansia muciniphila (AKK) and explore abundance-effect in obesity obesity to provide potential dose effect for obesity intervention.Methods:Clinical data of 6 986 subjects including body mass index, waist circumference, and common confounders such as gender, age, diastolic blood pressure, systolic blood pressure, fasting blood glucose, triglyceride, total cholesterol, high density lipoprotein-cholesterol, low density lipoprotein-cholesterol, and uric acid were collected from Guangdong Gut Microbiome Project in 2008. 16S ribosomal RNA (16S rRNA) sequencing data were used to estimate the genus abundance of AKK as well as its operational taxonomic unites (OTUs). Central obesity and overall obesity were diagnosed according to the criteria of China Obesity Working Group in 2002. Multivariate logistic regression was used to analyze the OR (95% CI) of obesity with one-unite elevation of AKK. The dose effect of AKK on obesity was estimated by comparing the trend of ORs from the 1st to the 20th quantile. Results:A total of three AKK OTUs(AKK OTU1, AKK OTU2, AKK OTU3) were identified: AKK OTU1 and AKK OTU2 were distributed in more than 90% of the population, while AKK OTU3 was distributed at 21.7%; All the OTUs showed a"bimodal"distributional pattern and their correlations with common factors were variable. Disparities of the association with obesity were found between the OTUs and the AKK. AKK OTU1, AKK OTU2, and the genus level of AKK showed significant protective effects against obesity; The ORs (95% CI) were 0.95(0.93-0.98), 0.97(0.94-0.99), 0.93(0.91-0.96), respectively for central obesity; And ORs(95% CI) were 0.88(0.80-0.97), 0.98(0.93-1.02), 0.81(0.74-0.89), respectively for overall obesity. The results were similar after adjustment for common confounders. According to the calculation of dose-effect, the protect effects of AKK increased with accumulated abundance and the minimum effective dose on central obesity and overall obesity was 1.83% and 4.98%, respectively. Conclusion:AKK is a protective factor for obesity, but the dose-effect of AKK and the strain-differences should be considered in the future interventional study.
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DNA damage is one of the research hotspots in the field of aging and related diseases, because it can cause cell cycle arrest and apoptosis, accelerate the body's rate of aging and increase the risk of aging-related diseases.This review will summarize the mechanisms of DNA damage in cells, animal models and individuals and its associations with aging and aging-related diseases, including cancer, cardiovascular disease, Alzheimer's disease and premature aging syndromes.We aim to provide a theoretical framework for anti-aging research and clinical intervention in the treatment of aging-related diseases.
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Primary angle-closure glaucoma (PACG) is a common subtype of glaucoma and one of the leading causes of blindness in Asia.Trabeculectomy has been recognized as an effective filtering surgery for PACG and is widely used in clinical practice, but its high risk of postoperative complications, especially bleb scarring over time can not be ignored.Nowadays, non-bleb-based minimally invasive glaucoma surgeries (MIGS) have attracted much attention.Surgeries opening, restoring, or expanding Schlemm canal to reconstruct aqueous humor outflow pathway is one of the MIGS and able to achieve moderate intraocular pressure (IOP) reduction, which has been widely used in the treatment of primary open-angle glaucoma (POAG) for a long time.However, based on the pathogenesis of PACG and its similar pathological changes in Schlemm canal to POAG, some retrospective studies and prospective single-arm studies discovered that Schlemm canal surgery combined with phacoemulsification and/or goniosynechialysis appears to lower IOP well and safe in PACG eyes in recent years.Whether Schlemm canal surgery is also suitable or effective for PACG is getting some attention and is still controversial up to now, mostly due to some differences in pathogenesis between PACG and POAG, it is necessary to perform randomized controlled trials to confirm the efficacy of Schlemm canal surgery for PACG and upgrade the therapeutic strategy of PACG.
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Objective:To analyze the relationship between physical indicators and blood pressure or fasting plasma glucose levels in the young-old and oldest-old.Methods:Totally 1 516 subjects from the Guangxi Natural Longevity Cohort were screened in this study and physical examination parameters included body mass index(BMI), waist circumference(WC), waist-to-height ratio(WHtR), fasting plasma glucose(FPG)and blood pressure, and the correlations between them were analyzed.Results:The overweight elderly and overweight young elderly groups had an increased risk of concurrent hypertension and impaired fasting glucose, compared with both elderly people with normal BMI and young elderly people with normal BMI( OR=2.66, 95% CI: 1.90-3.72; OR=3.03, 95% CI: 2.11-4.34). Elderly people with general obesity and young elderly people with general obesity were more likely to have hypertension( OR=5.25, 95% CI: 2.07-13.28; OR=4.75, 95% CI: 1.84-12.21), impaired fasting glucose( OR=2.95, 95% CI: 1.00-8.69; OR=3.06, 95% CI: 1.04-9.02), and concurrent hypertension and impaired fasting glucose( OR=7.94, 95% CI: 3.04-20.72; OR=8.68, 95% CI: 3.28-22.94), whereas underweight young elderly had a reduced risk of hypertension( OR=0.27, 95% CI: 0.09-0.80). Elderly people in the central obesity group(WC)showed increased risk of hypertension( OR=1.39, 95% CI: 1.04-1.84)and concurrent hypertension and impaired fasting glucose( OR=2.39, 95% CI: 1.75-3.27), compared with those in the non-central obesity group.Young elderly people with central obesity had increased risk of hypertension( OR=1.46, 95% CI: 1.07-2.00), impaired fasting glucose( OR=1.62, 95% CI: 1.14-2.28), and concurrent hypertension and impaired fasting glucose( OR=3.03, 95% CI: 2.13-4.32); both elderly people and young elderly people in the central obesity group(WHtR)had increased risk of hypertension( OR=1.35, 95% CI: 1.03-1.76; OR=1.55, 95% CI: 1.13-2.14), impaired fasting glucose( OR=1.42, 95% CI: 1.04-1.94; OR=1.62, 95% CI: 1.13-2.31), and concurrent hypertension and impaired fasting glucose( OR=2.20, 95% CI: 1.60-3.02; OR=3.22, 95% CI: 2.14-4.84). In the elderly group, BMI was correlated with diastolic blood pressure and WHtR was correlated with the fasting blood glucose level. Conclusions:The levels of fasting plasma glucose and blood pressure increase with elevated physical indicator values(BMI, WC, WHtR)in the Guangxi elderly population, and the risk of developing hypertension, impaired fasting glucose, and concurrent hypertension and impaired fasting glucose increases in elderly patients with general obesity and central obesity, with a higher risk in low-aged elderly patients.
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Glaucoma is a neurodegenerative disease, which is characterized by a concave atrophy of the optic disc and a characteristic defect of the visual field.The current diagnosis and evaluation of glaucoma are mainly based on fundus photography, optical coherence tomography and visual field examination.Hemodynamic changes play an important role in the pathophysiology of glaucomatous optic nerve damage, however, blood flow evaluation of the optic disc has been directed to large vessels in the past, and there has been no good evaluation equipment for quantitative evaluation of blood flow in microvessels.Optical coherence tomography angiography quantifies blood flow in the retina and choroid, which provides a new method and index for the evaluation of glaucomatous optic nerve damage.In this paper, the application of optical coherence tomography angiography in the measurement of blood vessel density in the optic disc and macular region in the diagnosis and progress assessment of glaucoma, and the consistency of blood flow parameters with structural parameters such as the optic nerve fiber layer and sieve plate and visual field parameters, etc.were reviewed to evaluate the value of blood flow parameters in predicting and assessing glaucomatous damage.
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Objective:To compare the evaluation ability and effect of the nursing delirium screening scale (Nu-DESC) and the intensive care delirium screening checklist (ICDSC) on the patients with delirium after percutaneous coronary intervention(PCI).Methods:A total of 128 patients who were admitted to cardiovascular surgery from June 2018 to June 2019 for PCI intervention were selected by convenient sampling method.Data were collected by general data questionnaire, restless sedation scale (RASS), Nu-DESC and ICDSC.SPSS 18.0 was used to analyze the collected data.The patients' receiver operating characteristic(ROC) curve and area under the ROC curve(AUC) were used to analyze Nu-DESC scale and ICDSC scale to evaluate the delirium ability of patients after PCI. Kappa value was used to test the consistency of the scale.Bayes discriminant analysis was used to analyze the accuracy of Nu-DESC and ICDSC in judging delirium after PCI.Results:The AUC of Nu-DESC and ICDSC was 0.902 and 0.857 respectively, and the difference between them was AUC=0.045 ( Z=3.489, P<0.001); the best critical value of Nu-DESC and ICDSC for delirium evaluation was 2 and 4. The cross validation accuracy of Nu-DESC and ICDSC for delirium determination was 87.5% and 83.6%, respectively.The delirium rates of DSM-Ⅳ, Nu-DESC and ICDSC were 33.6%, 34.4% and 43.7%, respectively. Conclusion:Compared with ICDSC, Nu-DESC is more suitable for the evaluation of delirium after PCI.
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Along with the continuous renewal of computer technology, artificial intelligence (AI) has been widely and gradually applied in the medical field of medicine.Research concerning machine learning and deep learning for making ophthalmological diagnosis is expanding.As glaucoma is an irreversible, blinding disease, early diagnosis and treatment are extremely important for improving patients' prognosis.Currently, AI is mainly combined with several auxiliary examinations (fundus photography, visual field tests, optical coherence tomography, etc.) to diagnose and treat glaucoma.AI models are built to segment, classify, and predict the results of image examinations, which is helpful for making diagnoses and predicting glaucoma progression.With the development of algorithms and technologies, the accuracy, sensitivity, and specificity of diagnosis gradually improve.Diagnosing and treating glaucoma require comprehensive consideration of multiple auxiliary examination results, so screening high-quality data and developing more systematic and comprehensive AI models remain to be explored.Currently, only several AI models are associated with glaucoma in the anterior examinations, so it is possible to begin studying the machine and deep learning models associated with ultrasonic biological microscopy and anterior segment optical coherence tomography.This paper, therefore, reviews the application of AI in glaucoma diagnosis.
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Objective To explore the function of soluble apoptosis inhibitive factor Fas (sFas) in pathogenesis of Graves ophthalmopathy (GO). Methods The subjects were enrolled in the Second Affiliated Hospital of Harbin Medical University from January 2014 to January 2017, and they were divided into three groups: GO accompanied with Graves disease (GD) group, GO without GD group and normal control group, with 30 patients in each group. Serum levels of sFas in three groups were investigated with enzyme-linked immunosorbent assay, and serum levels of freeing triiodothyronine (FT3), serum free thyroxine (FT4), thyrotrophin (TSH), thyroglobulin antibody (TGAb), thyroid peroxidase antibody (TPOAb) were measured by chemoluminescent technique, and compared. Results The serum level of sFas in GO accompanied with GD group was (0.76 ± 0.13)μg/L, which was higher than that in GO without GD group [(0.63 ± 0.08)μg/L] and normal control group [(0.52 ± 0.05)μg/L], and there was significant difference (P＜0.01). The serum level of sFas in GO without GD group and normal control group had significant difference (P＜0.05). The serum levels of FT3, FT4, TGAb, TPOAb in GO without GD group were lower than those in GO accompanied with GD group (P＜0.01).The serum level of TSH in GO without GD group was higher than that in GO accompanied with GD group (P＜0.01). The concentration of sFas were negatively correlated with FT3, FT4, TSH, TGAb and TPOAb (P > 0.05). Conclusions Abnormal serum concentration of sFas can be observed in patients with GD and GO which proves that sFas may play a role in the pathogenesis of GD and GO.
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Objective To explore the efficacy of the single versus combination drug therapies for benign prostatic hyperplasia(BPH) combined with overactive bladder(OAB).Methods A total of 471 outpatients with BPH and OAB meeting the inclusion/exclusion criteria were enrolled in this prospective cohort study from March 2012 to October 2015.Patients were divided into two groups:(1) the single alpha-blocker treatment group (prostate volume ＜ 30 ml),and (2) the 5 alpha reductase inhibitors(5-ARIs) plus alpha-blocker combination treatment group(prostate volume ≥ 30 ml).The 318 patients were treated with alpha blockers for 4 weeks,and then received a continuing alpha-blocker treatment for 8 weeks if IPSS score changes were less than 30％ (i.e.single alpha-blocker treatment group).And 153 patients were treated with 5-ARIs for 12 weeks,then received 5-ARIs plus alpha-blocker combination treatment for another 4 weeks(a total of 16 weeks)if IPSS score changes were less than 30 ％ (i.e.combination treatment group).The improvements of post-voiding residual(PVR),PV,maximum urinary flow rate(Qmax),international prostate symptom score(IPSS),overactive bladder symptom score (OABSS),quality of life (QOL),urine storage period symptom score (USPSS) and voiding symptom score(VSS)were compared between the two groups.Results The values of IPSS,OABSS,QOL,USPSS and VSS index in the two groups were improved after treatment as compared with pre-treatment(all P≤0.05).Patients in combination treatment group had little improvement in PVR and Qmax after treatment.The OAB symptom remission rates of BPH patients with OAB in single alpha-blocker treatment group were 70.5％ (206/292)and 78.6％ (165/210)after 4 and 12 weeks of treatment respectively.The OAB symptoms remission rates of BPH patients with OAB in combination treatment group were 54.5 ％ (64/122) and 67.1％ (53/79) after 12 and 16 weeks of treatment respectively.Conclusions Both single alpha-blocker treatment and alpha-blocker plus 5ARIs combination treatment,which identification was based on prostate volume,have good effects on BPH patients with OAB.The single alpha-blocker treatment can improve PVR and Qmax,and the alpha-blockers plus 5ARIs combination treatment can improve the prostate volume in BPH patients with OAB.
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Glaucoma is one of the leading causes of irreversible blindness.The progressive retinal ganglion cell death is the character of glaucoma which is often associated with elevated intraocular pressure. With the investigations on normal tension glaucoma (NTG), we find that the high intraocular pressure is not the only relevant factor. Research on NTG family has associated mutations in the optineurin(OPTN)gene with this disease, especially the E50K mutated OPTN.The molecular structures, localization, mutation, cellular function and pathogenic mechanism of OPTN has been gradually recognized.
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Objective To assess the clinical effects of individual nursing in the prevention of cerebral va-sospasm(CVS)in perioperative intracranial aneurysm intervention based on the therapy use of ligustrazine. Meth-ods Patients who suffered intracranial aneurysm from January 2014 to June 2017 in our hospital were divided into two groups randomly.Normal nursing was applied in the control group,while individual nursing was used for the ex-perimental group. Ligustrazine was used in both groups. Results A total of 56 patients were included in this re-search,28 for the control group,and 28 for the other group.Most patients recovered well and discharged regularly. The incidence rate of CVS in the experimental group(3.57%)was significant lower than that in the control group (28.57%)(P<0.05).Conclusions Based on the fact that individual nursing could lower the incidence of CVS of patients who suffered intracranial aneurysms when ligustrazine was used,it is one of the most important way to pro-mote the recovery as well as lower the mortality rate of patients.
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Acetazolamide, a sulfonamide-derived medication, is frequently used in the treatment of various types of glaucoma. But this kind of medicine is associated with acute angle closure glaucoma. This paper is a review for the researches of this rare adverse reaction at internal and abroad. It can prompt more ophthalmologists to understand and pay attention to this rare adverse reaction of acetazolamide and sulfonamides derived drugs. Then the doctor will make accurate diagnosis, timely treatment and grasp the right operation opportunity and reduce the occurrence of postoperative complications ultimately.
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General anesthetics were widely used in ophthalmology surgical and other surgical anesthesia, sedation and animal experiments. The current study found that anesthesia drugs such as ketamine, sevoflurane and propofol had a great influence on eyes. Elevated intraocular pressure was a risk factor for glaucoma occurrence and progress and it can change the intraocular structure, and damage the visual function. So in this paper, the effects of several kinds of general anesthetics commonly used were systematically described, in order to hold the attention of the clinicians and the researchers.