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1.
Heliyon ; 10(5): e26827, 2024 Mar 15.
Article in English | MEDLINE | ID: mdl-38434407

ABSTRACT

Introduction: Glial fibrillary acidic protein (GFAP) astrocytopathy is a novel autoimmune neurological disorder and is diagnosed by GFAP-IgG in cerebrospinal fluid (CSF) measurement. Case report: Herein, we described a 10-year-old boy with abnormal neurological symptoms and signs. GFAP-IgG was detected in CSF using cell-based assay (CBA), and his CSF showed an increase in lymphocytes, a slight decrease in glucose and an increase in protein level in the early stage. The cranial MRI showed multiple strips of T2-FLAIR hyperintense signal changes on the surface of medulla oblongata, pons, and gyrus in bilateral cerebral hemispheres. He was treated with immunoglobulin (IVIG) and high-dose methylprednisolone pulse treatment, and his clinical presentations gradually improved. Conclusion: We highlight that patients with normal inflammatory markers in peripheral blood have obvious meningitis-like symptoms, and clinicians need to consider GFAP astrocytopathy. The early diagnosis and treatment of GFAP astrocytopathy are important for improving the prognosis.

2.
Pediatr Neurol ; 140: 3-8, 2023 03.
Article in English | MEDLINE | ID: mdl-36577181

ABSTRACT

BACKGROUND: We designed this study to investigate the effects of the coronavirus disease 2019 (COVID-19) vaccine on epileptic seizures, as well as its adverse effects, in children with epilepsy (<18 years). METHODS: This anonymous questionnaire study involved a multicenter prospective survey of outpatients and inpatients with epilepsy (<18 years) registered in epilepsy clinics in eight hospitals in six cities of Shandong Province. RESULTS: A total of 224 children with epilepsy were included in the study. Fifty of them experienced general adverse events after vaccination. The most common local adverse events were pain or tenderness at the injection site. The most common systemic adverse effects were muscle soreness and headache. No severe adverse events were reported. There were no significant differences in the number of antiseizure medications (P = 0.459), gender (P = 0.336), etiology (P = 0.449), age (P = 0.499), duration of disease (P = 0.546), or seizure type (P = 0.475) between the patients with and without general adverse events. We found that the risk of seizure after vaccination was decreased in children who were seizure free for more than six months before vaccination. There was no significant difference in the number of seizures during the first month before vaccination, the first month after the first dose, and the first month after the second dose (P = 0.091). CONCLUSION: The benefits of vaccination against COVID-19 outweighed the risks of seizures/relapses and severe adverse events after vaccination for children with epilepsy.


Subject(s)
COVID-19 , Epilepsy , Humans , Child , Anticonvulsants/therapeutic use , COVID-19 Vaccines , Prospective Studies , Epilepsy/drug therapy , Seizures/drug therapy
3.
Front Immunol ; 13: 984789, 2022.
Article in English | MEDLINE | ID: mdl-36569941

ABSTRACT

Objectives: Several COVID-19 vaccines list "uncontrolled epilepsy" as a contraindication for vaccination. This consequently restricts vaccination against COVID-19 in patients with epilepsy (PWE). However, there is no strong evidence that COVID-19 vaccination can exacerbate conditions in PWE. This study aims to determine the impact of COVID-19 vaccination on PWE. Methods: PWE were prospectively recruited from 25 epilepsy centers. We recorded the seizure frequency at three time periods (one month before the first vaccination and one month after the first and second vaccinations). A generalized linear mixed-effects model (GLMM) was used for analysis, and the adjusted incidence rate ratio (AIRR) with 95% CI was presented and interpreted accordingly. Results: Overall, 859 PWE were included in the analysis. Thirty-one (3.6%) and 35 (4.1%) patients were found to have increased seizure frequency after the two doses, respectively. Age had an interaction with time. The seizure frequency in adults decreased by 81% after the first dose (AIRR=0.19, 95% CI:0.11-0.34) and 85% after the second dose (AIRR=0.16, 95% CI:0.08-0.30). In juveniles (<18), it was 25% (AIRR=0.75, 95% CI:0.42-1.34) and 51% (AIRR=0.49, 95% CI:0.25-0.95), respectively. Interval between the last seizure before vaccination and the first dose of vaccination (ILSFV) had a significant effect on seizure frequency after vaccination. Seizure frequency in PWE with hereditary epilepsy after vaccination was significantly higher than that in PWE with unknown etiology (AIRR=1.95, 95% CI: 1.17-3.24). Two hundred and seventeen (25.3%) patients experienced non-epileptic but not serious adverse reactions. Discussion: The inactivated COVID-19 vaccine does not significantly increase seizure frequency in PWE. The limitations of vaccination in PWE should focus on aspects other than control status. Juvenile PWE should be of greater concern after vaccination because they have lower safety. Finally, PWE should not reduce the dosage of anti-seizure medication during the peri-vaccination period.


Subject(s)
COVID-19 , Epilepsy , Adult , Humans , COVID-19 Vaccines/adverse effects , Prospective Studies , COVID-19/prevention & control , COVID-19/complications , Epilepsy/drug therapy , Vaccination/adverse effects
4.
Medicine (Baltimore) ; 100(52): e28283, 2021 Dec 30.
Article in English | MEDLINE | ID: mdl-34967360

ABSTRACT

BACKGROUND: Central retinal vein occlusion (CRVO) is one of the most common retinal vascular diseases, which is closely related to systemic diseases like hypertension, diabetes and arteriosclerosis. Due of its blinding, it will seriously reduce the quality of life. Macular edema (ME) caused by CRVO is one of the serious complications of visual impairment. We found that the severity of ME in CRVO was positively associated with vascular endothelial growth factor (VEGF) in the anterior chamber. With the accelerated pace of modern life and the changed dietary structure, the incidence of this disease will continue to rise. Therefore, it is of great practical significance to seek effective treatment methods. Intraocular injection of anti-VEGF can effectively alleviate ME and improve visual acuity, showing excellent clinical application prospects. In recent years, there have been some new understandings and advances on the etiology and treatment methods of the present disease, such as the deepening into the molecular biology and gene level. Clinical studies on the efficacy of the disease have emerging. Therefore, a network meta-analysis (NMA) of anti-VEGF treatment for CRVO is particularly necessary to systematically compare its efficacy. METHODS: The two reviewers will comprehensively retrieved electronic databases such as PubMed, The Cochrane Library, Wanfang database, Web of Science, Chinese Scientifific Journals Database, EMBASE, China National Knowledge Infrastructure, and China BioMedical Literature. A randomized controlled trial for CRVO against VEGF between January 2010 and June 2021 was included according to the relevant content of the study. In addition, 2 researchers will screen the literature to assess the risk bias for the included articles. We will evaluate the collected evidence and data using a Bayesian NMA method, and analyzed it with STATA and WinBUGS software. RESULTS: Anti-VEGF is one of the effective methods for ME in CRVO patients, accordingly, this study will evaluate its efficacy and safety using a Bayesian NMA system. CONCLUSION: This study can provide an effective rationale for the clinical application of anti-VEGF for CRVO, contribute to the treatment of CRVO and patient condition rehabilitation in clinical work. ETHICS AND DISSEMINATION: Do not require. INPLASY REGISTRATION NUMBER: INPLASY2021110073.


Subject(s)
Endothelial Growth Factors/therapeutic use , Macular Edema/drug therapy , Retinal Vein Occlusion/complications , Vascular Endothelial Growth Factor A/antagonists & inhibitors , Bayes Theorem , Humans , Macular Edema/etiology , Network Meta-Analysis , Quality of Life , Randomized Controlled Trials as Topic , Systematic Reviews as Topic
5.
Diabetol Metab Syndr ; 13(1): 126, 2021 Oct 30.
Article in English | MEDLINE | ID: mdl-34717725

ABSTRACT

BACKGROUND: Post-transplant diabetes mellitus (PTDM) occurs in 10-30% of kidney transplant recipients. However, its impact on mortality and graft survival is still ambiguous. Therefore, the current study aimed to analyze if PTDM increases mortality and graft failure by pooling multivariable-adjusted data from individual studies. METHODS: PubMed, Embase, and CENTRAL, and Google Scholar were searched for studies comparing mortality and graft failure between PTDM and non-diabetic patients. Multivariable-adjusted hazard ratios (HR) were pooled in a random-effects model. RESULTS: Fourteen retrospective studies comparing 9872 PTDM patients with 65,327 non-diabetics were included. On pooled analysis, we noted a statistically significant increase in the risk of all-cause mortality in patients with PTDM as compared to non-diabetics (HR: 1.67 95% CI 1.43, 1.94 I2 = 57% p < 0.00001). The meta-analysis also indicated a statistically significant increase in the risk of graft failure in patients with PTDM as compared to non-diabetics (HR: 1.35 95% CI 1.15, 1.58 I2 = 78% p = 0.0002). Results were stable on sensitivity analysis. There was no evidence of publication bias on funnel plots. CONCLUSION: Kidney transplant patients developing PTDM have a 67% increased risk of all-cause mortality and a 35% increased risk of graft failure. Further studies are needed to determine the exact cause of increased mortality and the mechanism involved in graft failure.

6.
Mol Med Rep ; 23(3)2021 03.
Article in English | MEDLINE | ID: mdl-33655333

ABSTRACT

Neural tube defects (NTDs) are the most serious and common birth defects in the clinical setting. The Notch signaling pathway has been implicated in different processes of the embryonic neural stem cells (NSCs) during neural tube development. The aim of the present study was to investigate the expression pattern and function of Notch1 (N1) in all­trans retinoic acid (atRA)­induced NTDs and NSC differentiation. A mouse model of brain abnormality was established by administering 28 mg/kg atRA, and then brain development was examined using hematoxylin and eosin (H&E) staining. The N1 expression pattern was detected in the brain of mice embryos via immunohistochemistry and western blotting. NSCs were extracted from the fetal brain of C57 BL/6 embryos at 18.5 days of pregnancy. N1, Nestin, neurofilament (NF), glial fibrillary acidic protein (GFAP) and galactocerebroside (GALC) were identified using immunohistochemistry. Moreover, N1, presenilin 1 (PS1), Nestin, NF, GFAP and GALC were detected via western blotting at different time points in the NSCs with control media or atRA media. H&E staining identified that the embryonic brain treated with atRA was more developed compared with the control group. N1 was downregulated in the embryonic mouse brain between days 11 and 17 in the atRA­treated group compared with the untreated group. The distribution of N1, Nestin, NF, GFAP and GALC was positively detected using immunofluorescence staining. Western blotting results demonstrated that there were significantly, synchronous decreased expression levels of N1 and PS1, but increased expression levels of NF, GFAP and GALC in NSCs treated with atRA compared with those observed in the controls (P<0.05). The results suggested that the N1 signaling pathway inhibited brain development and NSC differentiation. Collectively, it was found that atRA promoted mouse embryo brain development and the differentiation of NSCs by inhibiting the N1 pathway.


Subject(s)
Cell Differentiation/genetics , Embryonic Development/genetics , Neural Tube Defects/genetics , Receptor, Notch1/genetics , Animals , Cell Differentiation/drug effects , Gene Expression Regulation, Developmental/drug effects , Humans , Mice , Neural Stem Cells/metabolism , Neural Tube/growth & development , Neural Tube/metabolism , Neural Tube Defects/pathology , Tretinoin/pharmacology
7.
Front Med (Lausanne) ; 8: 793054, 2021.
Article in English | MEDLINE | ID: mdl-35004763

ABSTRACT

Background: This study aimed to report a case of vitrectomy with peeling the internal limiting membrane for the treatment of macular hole (MH) following ruptured retinal arterial macroaneurysm (RAMA). Case Presentation: A 65-year-old woman noticed a sudden decrease in vision in the left eye. She had no other ocular problems apart from a mild cataract in both eyes before. Her best-corrected visual acuity (BCVA) was 20/33 in the right eye, and 6/100 in the left eye. Fluorescein angiography (FFA) showed a retinal arterial macroaneurysm with telangiectatic retinal vascular changes in the inferior temporal macular region. Optical coherence tomography (OCT) examination demonstrated the presence of subretinal hemorrhage extending into the foveal area and incomplete posterior vitreous detachment. Because of the presence of submacular hemorrhage, some medicine was administrated and the patient was followed up. Then, 5 months later, the hemorrhage was absorbed. OCT examination exhibited a full-thickness MH with a macular epiretinal membrane. The size of the MH was 722 µm in diameter. She was then given a standard three-port pars plana vitrectomy (PPV), along with peeling of the internal limiting membrane (ILM) and filling the vitreous cavity with air. Anatomic closure of the MH was achieved after 4 weeks of the surgery by the examination of OCT. The BCVA was improved to 15/100. Conclusions: This case expanded our knowledge of the association of MH secondary to ruptured RAMA. We reported a case with successful surgical closure of the MH and improvement of BCVA.

8.
9.
Biomed Res Int ; 2020: 9046781, 2020.
Article in English | MEDLINE | ID: mdl-32685542

ABSTRACT

AIMS: To confirm the therapeutic efficacy of conbercept for the treatment of macular edema (ME) secondary to retinal vein occlusion (RVO) by using optical coherence tomography angiography (OCTA) and to find out the differences in therapeutic efficacy between ischemic and nonischemic retinal vein occlusion (iRVO or non-iRVO) after conbercept treatment. METHODS: In this prospective, randomized, and comparative study, 60 unilateral eyes suffered from RVO combined with macular edema were included and fellow eye as controls. After an initial intravitreal injection of conbercept (IVIC), a pro re nata (PRN) strategy was adopted, and the follow-up time was 6 months. The foveal avascular zone (FAZ), vascular density of superficial capillary plexus (SCP), and vascular density of deep retinal capillary plexus (DCP), nonperfused areas (NPAs) were evaluated with OCTA on baseline and after treatment. RESULTS: The mean intravitreal injection number was 2.9 ± 0.89 times during six months in iRVO patients and 2.1 ± 0.86 times in non-iRVO patients, with statistically significant difference (p < 0.05). On baseline, central macular thickness (CMT) and FAZ were significantly thickened and enlarged compared to those of healthy fellow eyes; the vascular density of SCP and DCP were significantly decreased, and the differences were statistically significant (p < 0.05). Compared to baseline, after treatment, the best-corrected visual acuity (BCVA) was improved in either iRVO or non-iRVO (-0.601 ± 0.387, -0.241 ± 0.341 logMAR, p < 0.05). In iRVO, the improvement was more substantial than that of the non-iRVO group. FAZ in the non-iRVO group had significantly decreased compared to that in iRVO group (-0.044 ± 0.040 versus 0.014 ± 0.043 mm2, p < 0.05). CMT, the vascular density of SCP, and DCP had no significant difference. CONCLUSIONS: The changes of microvascular structure can be quantitatively evaluated by using OCTA for the patients with RVO. Conbercept had a significant effect on treatment of RVO with macular edema. A more profound effect was achieved in the iRVO group on visual improvement and FAZ reduction in the non-iRVO group after conbercept treatment.


Subject(s)
Macular Edema/drug therapy , Recombinant Fusion Proteins/administration & dosage , Retinal Vein Occlusion/complications , Retinal Vessels/drug effects , Tomography, Optical Coherence/methods , Angiogenesis Inhibitors/administration & dosage , Female , Humans , Intravitreal Injections/methods , Macular Edema/etiology , Macular Edema/pathology , Male , Middle Aged , Prospective Studies , Retinal Vein Occlusion/pathology , Retinal Vessels/pathology , Visual Acuity
10.
Biomed Res Int ; 2020: 2428348, 2020.
Article in English | MEDLINE | ID: mdl-32382537

ABSTRACT

PURPOSE: To compare the efficacy between initial 3-monthly intravitreal conbercept monotherapy and combination intravitreal conbercept with photodynamic therapy (PDT) for polypoidal choroidal vasculopathy (PCV). METHODS: This is a retrospective, comparative study which involved 65 PCV eyes of 65 patients. According to the therapeutic regimen, the PCV patients were divided into two groups: 32 eyes with naive PCV received a PDT after the first intravitreal injection of conbercept (IVC) followed by pro re nata (prn) retreatment (combination group), and 33 eyes with naïve PCV received 3-monthly IVC monotherapy followed by prn regimen (IVC monotherapy group). All patients completed at least 6 months of monthly follow-up. RESULTS: At month 6, best-corrected visual acuity (BCVA) improved significantly (P < 0.05) in both groups compared with that at baseline; the mean changes of BCVA between the IVC monotherapy group and combination group have no significant difference (-0.22 ± 0.22 vs. -0.17 ± 0.22 LogMAR, P = 0.38). The central retinal thickness (CRT) decreased significantly in the two groups (P < 0.05), with no difference between the two groups (P = 0.24). The complete regression rate of polyps was 58.6% (17 out of 29 eyes) in the IVC monotherapy group and 80.65% (25 out of 31 eyes) in the combination group, respectively (P = 0.09, χ-squared test). The combination group required significantly fewer injections than the IVC monotherapy group (3.09 ± 0.89 vs. 3.67 ± 0.74, P = 0.006). CONCLUSION: Conbercept monotherapy significantly improved visual acuity and effectively regressed polyps during 6-month follow-up time in the treatment of PCV.


Subject(s)
Choroid Diseases/drug therapy , Photochemotherapy , Polyps/drug therapy , Recombinant Fusion Proteins/administration & dosage , Aged , Choroid Diseases/physiopathology , Female , Humans , Intravitreal Injections , Male , Middle Aged , Polyps/physiopathology , Retrospective Studies , Visual Acuity/drug effects
12.
Sci Rep ; 9(1): 15339, 2019 10 25.
Article in English | MEDLINE | ID: mdl-31653890

ABSTRACT

Vascular endothelial growth factor (VEGF) and placental growth factor (PlGF) plays a crucial role in breakdown of the blood-retinal barrier due to hyperpermeability in diabetic retinopathy (DR). However, the distinct signaling driven by VEGF and PlGF in the pathogenesis of DR remains unclear. In this study, we investigated VEGF- and PlGF- related signaling pathways and their roles in cultured human microvascular retinal endothelial cells (hRECs) under high glucose conditions (HG; 25 mM). Apoptotic cell death was evaluated, and FITC conjugated bovine serum albumin across monolayer hRECs served as an index of permeability. Western blots were used to assess the protein levels of VEGF and PlGF, as well as the phosphorylation of p38MAPK, STAT1 and Erk1/2. Knockdown of VEGF and PlGF was performed by using siRNA. Following HG treatment, increases of VEGF and PlGF as well as PKC activity were detected in hRECs. Increased phosphorylations of p38MAPKThr180/Thr182, STAT1Ser727, and Erk1/2Tyr202/Tyr185 as well as VEGFR1Tyr1213 and VEGFR2Tyr1175 were also detected in HG-treated hRECs. Inhibition of PKC activity by Go 6976 prevented HG-induced increases of phosphor-Erk1/2 and nitric oxide synthase (NOS1) expressions as well as hyperpermeability, whereas inhibition of p38MAPK pathway by SB203580 selectively suppressed activation of STAT1 and decreased apoptotic cell death under HG conditions. Moreover, VEGF knockdown predominantly inhibited activation of VEGFR2, and phosphorylation of p38MAPK and STAT1, as well as apoptotic cell death in HG-treated hRECs. Nevertheless, PlGF knockdown mainly suppressed phosphorylation of VEGFR1, PKC, and Erk1/2, as well as NOS1 expressions and hyperpermeability. Taken together, we provide evidence demonstrating that HG-induced elevation of PlGF is responsible for hyperpermeability mainly through increasing activation of PKC-Erk1/2-NOS axis via VEGFR1, while HG-induced elevation of VEGF is associated with induction of apoptotic cell death mainly through increasing activation of p38MAPK/STAT1 signaling via VEGFR2.


Subject(s)
Endothelial Cells/pathology , Glucose/toxicity , Placenta Growth Factor/metabolism , Retina/pathology , Signal Transduction , Vascular Endothelial Growth Factors/metabolism , Apoptosis/drug effects , Cell Membrane Permeability/drug effects , Cells, Cultured , Endothelial Cells/drug effects , Endothelial Cells/metabolism , Humans , Models, Biological , Vascular Endothelial Growth Factor Receptor-2/metabolism
13.
Exp Ther Med ; 17(5): 4007-4012, 2019 May.
Article in English | MEDLINE | ID: mdl-30988782

ABSTRACT

Clinical efficacy and adverse reaction rates of ABO hemolytic jaundice in patients with continuous and intermittent blue light irradiation were compared, to provide reference for clinical treatment of neonatal ABO hemolytic jaundice. A retrospective analysis of 307 patients with neonatal hemolytic jaundice admitted to Qilu Hospital of Shandong University (Qingdao) from January 2010 to December 2017 was undertaken. A total of 165 cases of children with continuous blue light irradiation and 142 cases of intermittent blue light irradiation were analyzed. Also the serum bilirubin levels, phototherapy time and frequency, treatment efficiency and adverse reaction rates were compared between the groups. The phototherapy time of children in the continuous phototherapy group was significantly higher from the intermittent phototherapy group, and the difference was statistically significant (t=26.800, P<0.001). Before treatment, there was no significant difference in serum bilirubin levels between continuous and intermittent phototherapy groups (P>0.050). Serum bilirubin levels of patients in continuous and intermittent phototherapy groups were lower than both previous and before treatment period, and differences were statistically significant (P<0.001). The overall effective rate of the continuous phototherapy group was higher than that of the intermittent phototherapy group (P>0.050). The adverse reaction rates after treatment in the continuous phototherapy group was significantly higher than the intermittent phototherapy group (P<0.050). After the symptomatic treatment in children, the adverse reactions ceased. The therapeutic effect of intermittent blue light irradiation on neonatal ABO hemolytic jaundice was consistent with the continuous blue light irradiation treatment, and the intermittent blue light irradiation treatment has a low adverse reaction rate, and is worth promotion in clinical practice.

14.
Exp Ther Med ; 17(2): 1400-1404, 2019 Feb.
Article in English | MEDLINE | ID: mdl-30680020

ABSTRACT

Diagnostic value between IL-17 combined with IL-18 and CT angiography in carotid atherosclerosis was evaluated. A total of 158 patients with suspected carotid artery stenosis in People's Hospital of Dongying from March 2014 to April 2017 were selected as the subjects. One hundred and two patients with carotid atherosclerosis were selected as the atherosclerosis group, the other 56 patients with no obvious carotid artery abnormalities were selected as the disease control group. In addition, there were 100 healthy subjects selected as the healthy control group. The level of IL-17 and IL-18 in peripheral blood of all the subjects was detected by ELISA. The ROC curve was used to analyze the diagnostic value of IL-17 combined with IL-18 and CT angiography in atherosclerosis. The levels of IL-17 and IL-18 in the three groups were different (P<0.05). The level of IL-17 and IL-18 in the atherosclerosis and disease control groups was higher than that in the healthy control group, and the level of IL-17 and IL-18 in the atherosclerosis was higher than that in the disease control group. The sensitivity of IL-17 or IL-18 was less than the coincidence rate and sensitivity of IL-17 combined with IL-18 as diagnostic criteria, and AUC was also less than AUC of IL-17 combined with IL-18. The sensitivity and diagnostic accuracy of IL-17 combined with IL-18 in the diagnosis of carotid atherosclerosis were not significantly different from CT angiography (P>0.05), but the specificity was obviously lower than CT angiography (P<0.05). The diagnosis of atherosclerosis of IL-17 combined with IL-18 was more accurate, it can improve the diagnostic efficiency of atherosclerosis and be used as a routine method for screening the atherosclerosis.

15.
Medicine (Baltimore) ; 97(51): e13749, 2018 Dec.
Article in English | MEDLINE | ID: mdl-30572518

ABSTRACT

RATIONALE: Epilepsy with mental retardation limited to females (EFMR) is a rare type of X-linked epilepsy disorder, affecting heterozygous females disproportionately. The pathogenesis of EFMR has been identified as mutations in the protocadherin 19 (PCDH19) gene. To data, more than 60 different mutations in PCDH19 have been identified. Most of them are located at exon 1, but we describe a novel deletion mutation c.2468delT at exon 3 of PCDH19. PATIENT CONCERNS: The patient was an 11-year-old girl with onset of seizures at the age of 18 months and followed by progressive intellectual disability (ID) later. DIAGNOSIS: The girl was diagnosed as EFMR when a novel deletion mutation c.2468delT at exon 3 of PCDH19 was found. The deletion mutation c.2468delT was predicted to have caused a frameshift mutation of amino acid at position 823 (p.L823fs). There was no family history of seizures or ID. Her father was asymptomatic, but the mutation screening shows that he had a hemizygous mutation c.2468delT at the same site of PCDH19. The secondary structure of PCDH19 (wide type) showed that the sequences undergoing frameshift mutations were located in the cytoplasm and contain 9 phosphorylation sites. The p.L823fs mutation caused a totally different amino sequence after position of 823, thereby resulting in the disappearance of phosphorylation sites. The frameshift mutation of amino acid at position 823 might affect its binding capability with GABAA receptor and results in migration and morphological maturation of hippocampal neurons. INTERVENTIONS: The patient has received antiepileptic treatments, including sodium valproate, carbamazepine, levetiracetam, topiramate and clonazepam et al. OUTCOMES:: The antiepileptic treatment effects were limited. LESSONS: This case report describes a novel PCDH19 gene mutation (c.2468delT) at exon 3 in a girl suffering from EFMR. The deletion mutation was predicted to cause a frameshift mutation-p.L823fs, which is highly conserved across different species.


Subject(s)
Cadherins/genetics , Epilepsy/genetics , Frameshift Mutation , Intellectual Disability/genetics , Child , Epilepsy/drug therapy , Epilepsy/physiopathology , Female , Humans , Intellectual Disability/physiopathology , Protocadherins
16.
Environ Sci Pollut Res Int ; 25(28): 28015-28024, 2018 Oct.
Article in English | MEDLINE | ID: mdl-30066075

ABSTRACT

Using aluminum nitrate (AlN) and bauxite tailings (BTs) as different dopants, and lime mud (LM) as calcium source, a series of CaO-based sorbents were prepared for CO2 capture by dry mixing method; then, the carbonation conversions of multiple carbonation/calcination cycles were detected in a thermogravimetric analyzer (TGA). Effects of different dopants, dopant contents, precalcination conditions, and a long series of cycles on CO2 absorption properties were scrutinized, and the phase composition and morphologies were tested by scanning electron microscopy (SEM) and X-ray diffraction (XRD). Durability studies show that the sample doped with AlN remains a higher absorption conversion (30.88%) after 30 carbonation/calcination cycles. In the meantime, the sorbent doped with BTs showed a lower conversion, which is probably resulted from the impurities from waste BTs. However, the sample BT has a better cyclic absorption stability. In addition, the incorporation of BTs, as a kind of solid waste, not only decreases the preparation cost but also is good for environment. The occurrence of Ca12Al14O33 phase is considered to provide a stable framework inhibiting inactivation of CaO, and improve the CO2 adsorption stability. Graphical abstract ᅟ.


Subject(s)
Air Pollutants/analysis , Aluminum Compounds/chemistry , Aluminum Oxide/chemistry , Calcium Compounds/chemistry , Carbon Dioxide/analysis , Nitrates/chemistry , Oxides/chemistry , Adsorption , Microscopy, Electron, Scanning , Surface Properties , X-Ray Diffraction
17.
Curr Eye Res ; 43(2): 218-223, 2018 02.
Article in English | MEDLINE | ID: mdl-29265939

ABSTRACT

PURPOSE: To evaluate the therapeutic efficacy of conbercept for the treatment of diabetic macular edema (DME) with different baseline visual acuity. METHODS: This is a retrospective, comparative study. A total of 107 eyes of 107 patients were included. According to the levels of baseline best corrected visual acuity (BCVA) and therapeutic regimen, the DME patients were divided into four groups: conbercept treatment subgroup with worse baseline VA (less than 69 letters, Snellen equivalent, 20/50 or worse; n = 37), untreated subgroup with worse baseline VA(n = 28); conbercept treatment subgroup with better baseline VA (78 to 69 letters, Snellen equivalent, 20/32 to 20/40; n = 25), untreated subgroup (n = 17). Patients received one initial intravitreal injection followed by re-treatments based on BCVA loss or increase of central macular thickness (CMT). RESULTS: At month 12, the mean improvement of BCVA was significantly higher in both worse baseline VA group and better baseline VA group with conbercept treatment than that of corresponding untreated controls:18(15) letters vs. -4(6) letters, P < 0.001; 7(1) letters vs. -5(5) letters; P < 0.001; respectively. At month12 the mean CMT from baseline was significantly declined in both worse baseline VA group and better baseline VA group with conbercept treatment than that of respective untreated controls (-212.8 ± 11.9 vs.-44.3 ± 35.3µm,P < 0.001; -116.1 ± 88.9vs.-33.7 ± 49.8µm, P = 0.001; respectively). At the end of twelve month follow-up, the BCVA improvement and CMT declination in worse baseline VA group were more prominent than that in better baseline group (P < 0.001). The mean numbers of injections were 6.7 ± 0.9, 6.5 ± 1.1 in worse baseline VA group and better baseline VA group, respectively (P = 0.35). The two groups have no significant difference in the number of injections. CONCLUSION: Conbercept was effective in the treatment of DME at different levels of baseline BCVA. For worse baseline VA, BCVA improvement was more prominent than that of better VA subgroup.


Subject(s)
Diabetic Retinopathy/drug therapy , Macular Edema/drug therapy , Recombinant Fusion Proteins/therapeutic use , Diabetic Retinopathy/diagnostic imaging , Diabetic Retinopathy/physiopathology , Female , Follow-Up Studies , Humans , Intravitreal Injections , Macular Edema/diagnostic imaging , Macular Edema/physiopathology , Male , Middle Aged , Retreatment , Retrospective Studies , Tomography, Optical Coherence , Treatment Outcome , Visual Acuity/physiology
18.
Curr Eye Res ; 42(8): 1174-1178, 2017 08.
Article in English | MEDLINE | ID: mdl-28441077

ABSTRACT

PURPOSE: To confirm the therapeutic efficacy of conbercept for the treatment of macular edema (ME) secondary to branch retinal vein occlusion (BRVO). METHODS: In this prospective, randomized, and comparative study, patients were randomized and divided into conbercept (n = 18) and ranibizumab (n = 17) groups. After an initial intravitreal injection of either conbercept or ranibizumab, a pro re nata (PRN) strategy was adopted based on loss of visual acuity (VA) or increase in central macular thickness (CMT). RESULTS: All patients were followed for ≥6 months. Baseline best-corrected visual acuities (BCVAs) were 0.67 ± 0.37 and 0.511 ± 0.23 logMAR in the conbercept and ranibizumab groups, respectively (p = 0.087, t-test). Baseline CMTs were 512.5 ± 115.22 and 491.23 ± 114.72 µm in the conbercept and ranibizumab groups, respectively (p = 0.993, t-test). Significant improvements in BCVA and reduction of CMT were observed in both groups at each follow-up visit and compared to baseline values (p < 0.05, t-test). No significant differences in improvement of BCVA (p > 0.05, t-test) or reduction of CMT (p > 0.05, t-test) were noted in either group. Mean numbers of injections were 2.28 ± 0.96 and 2.65 ± 1.17 for the conbercept and ranibizumab groups, respectively (p = 0.478, t-test), with no statistically significant differences between the two groups. CONCLUSION: Intravitreal injection of conbercept is shown to be safe and effective for the treatment of ME secondary to BRVO, based on 6-month follow-up data.


Subject(s)
Macula Lutea/pathology , Macular Edema/drug therapy , Ranibizumab/administration & dosage , Recombinant Fusion Proteins/administration & dosage , Retinal Vein Occlusion/complications , Visual Acuity , Angiogenesis Inhibitors/administration & dosage , Dose-Response Relationship, Drug , Female , Follow-Up Studies , Humans , Intravitreal Injections , Macular Edema/diagnosis , Macular Edema/etiology , Male , Middle Aged , Prospective Studies , Retinal Vein Occlusion/diagnosis , Retinal Vein Occlusion/drug therapy , Time Factors , Tomography, Optical Coherence , Treatment Outcome , Vascular Endothelial Growth Factor A/antagonists & inhibitors
19.
J Pediatr ; 179: 192-196.e4, 2016 12.
Article in English | MEDLINE | ID: mdl-27640356

ABSTRACT

OBJECTIVES: To validate the sensitivity of an isolated red reflex test in detection of ocular abnormalities of the anterior and posterior segments in newborns. STUDY DESIGN: Red reflex test and comprehensive eye examinations including external inspection, pupil examination, hand-held slit lamp examination, and RetCam fundus imaging (Clarity Medical Systems, Pleasanton, California) were performed in 7641 newborns. All results were documented as negative or positive. Sensitivity and specificity of red reflex test were calculated by the use of comprehensive eye examinations as the reference standard. Anterior abnormalities were separated from posterior abnormalities, and the sensitivity of red reflex test for each group was calculated. RESULTS: The proportion of abnormalities that were correctly classified by red reflex test was greater in anterior segment group (sensitivity = 99.6%, 95% CI 97.1%-100%) than in the posterior group (sensitivity = 4.1%, 95% CI 3.3%-5.1%, χ2 = 1521.382, φ = 0.836, P < .001). CONCLUSIONS: The red reflex test was a useful universal screening tool in detection of anterior abnormalities; however, the test has limitations in detection of posterior abnormalities. The generalization of these results to infants and children and observers with varying levels of expertise may need to be established further.


Subject(s)
Eye Diseases/diagnosis , Neonatal Screening/methods , Physical Examination/methods , Diagnostic Techniques, Ophthalmological , Female , Humans , Infant, Newborn , Male , Prospective Studies , Sensitivity and Specificity
20.
J Int Med Res ; 44(3): 685-97, 2016 Jun.
Article in English | MEDLINE | ID: mdl-26936966

ABSTRACT

OBJECTIVE: To investigate the predictive baseline factors for a successful outcome following one dose of intravitreal triamcinolone acetonide (IVTA) in patients with macular oedema (ME) caused by branch retinal vein occlusion (BRVO). METHODS: This retrospective study enrolled patients with ME (macular retinal thickness [MRT] ≥ 300 µm) due to BRVO who still had ME 3 months after grid laser photocoagulation. Patients were divided according to treatment into an IVTA group and a laser-only group. The resolution of ME was documented at months 3 and 6. RESULTS: A total of 154 eyes with ME were investigated: IVTA group (90 eyes) and laser-only group (64 eyes). Predictive factors for successful IVTA treatment were younger age, shorter duration of ME, initial onset ME, accompanied by serous retinal detachment, few concomitant systemic diseases and nonischaemic BRVO. A broken foveal capillary ring was related to a poor treatment outcome. Eyes with cystoid spaces in the outer plexiform layer were more likely to have a good treatment response. CONCLUSION: IVTA is effective for resolving ME due to BRVO after grid laser photocoagulation treatment.


Subject(s)
Macular Edema/complications , Macular Edema/drug therapy , Retinal Vein Occlusion/complications , Retinal Vein Occlusion/drug therapy , Triamcinolone Acetonide/administration & dosage , Demography , Dose-Response Relationship, Drug , Female , Humans , Intravitreal Injections , Light Coagulation , Male , Middle Aged , Recurrence , Treatment Outcome
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