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1.
Int J Ophthalmol ; 17(2): 239-246, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38371268

RESUMO

AIM: To quantitatively measure ocular morphological parameters of guinea pig with Python technology. METHODS: Thirty-six eyeballs of eighteen 3-week-old guinea pigs were measured with keratometer and photographed to obtain the horizontal, coronal, and sagittal planes respectively. The corresponding photo pixels-actual length ratio was acquired by a proportional scale. The edge coordinates were identified artificially by ginput function. Circle and conic curve fitting were applied to fit the contour of the eyeball in the sagittal, coronal and horizontal view. The curvature, curvature radius, eccentricity, tilt angle, corneal diameter, and binocular separation angle were calculated according to the geometric principles. Next, the eyeballs were removed, canny edge detection was applied to identify the contour of eyeball in vitro. The results were compared between in vivo and in vitro. RESULTS: Regarding the corneal curvature and curvature radius on the horizontal and sagittal planes, no significant differences were observed among results in vivo, in vitro, and the keratometer. The horizontal and vertical binocular separation angles were 130.6°±6.39° and 129.8°±9.58° respectively. For the corneal curvature radius and eccentricity in vivo, significant differences were observed between horizontal and vertical planes. CONCLUSION: The Graphical interface window of Python makes up the deficiency of edge detection, which requires too much definition in Matlab. There are significant differences between guinea pig and human beings, such as exotropic eye position, oblique oval eyeball, and obvious discrepancy of binoculus. This study helps evaluate objectively the ocular morphological parameters of small experimental animals in emmetropization research.

2.
Sci Rep ; 13(1): 2780, 2023 02 16.
Artigo em Inglês | MEDLINE | ID: mdl-36797301

RESUMO

To compare and assess the choroidal and retinal microstructural vascularity in amblyopic eyes with the fellow eyes in anisometropic amblyopic children using angiography optical coherence tomography (Angio-OCT). Twenty-seven children (54 eyes; 5.59 ± 1.08 years old; 59.3% girls) were enrolled in this study. Choroidal thickness (CT) was measured with the use of the enhanced depth imaging mode in Angio-OCT. Parafoveal/peripapillary vascular density indices and the foveal avascular zone (FAZ) size were analyzed by MATLAB code programming on Angio-OCT images. The mean FAZ size of the amblyopic eyes were larger both in superficial and deep capillary plexus layer (SCPL/DCPL). Compared with the contralateral eyes (BCVA were normal), all the vascular density indices of SCPL and DCPL in the parafoveal and peripapillary zones were lower in the amblyopic eyes, however, the difference was insignificant (p > 0.05). No significant decrease was observed in four quadrants analyses of the amblyopic eyes (p > 0.05). Except for the measurement at 2000 µm and 1500 µm from the fovea in temple, CT in amblyopic eyes were significantly thicken than the fellow eyes (p < 0.05). Compared with the fellow eyes, the CT of certain areas were thicker in the amblyopic eyes. Though the FAZ size of the amblyopic eyes was larger in SCPL/DCPL layers, the retinal vascular density indices in SCPL/DCPL were lower in amblyopia eyes without statistical difference. Angio-OCT may be an effective way to evaluate the status of the choroidal and retinal vascular system in amblyopic children.


Assuntos
Ambliopia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Ambliopia/diagnóstico por imagem , Angiografia , Estudos Transversais , Microvasos/diagnóstico por imagem , Tomografia de Coerência Óptica/métodos , Acuidade Visual
3.
BMC Ophthalmol ; 22(1): 364, 2022 Sep 08.
Artigo em Inglês | MEDLINE | ID: mdl-36076198

RESUMO

PURPOSE: Cortical visual impairment (CVI) is the common cause of pediatric visual impairment in cerebral palsy (CP) while exotropia is the most common strabismus associated with CP. We aim to observe the strabismic surgery outcomes in pediatric patients with CP and CVI. METHOD: Our medical records were collected from pediatric patients treated in our hospital from May 1, 2017 to Jan 1, 2022. With normal intelligence assessment and diagnosis of exotropia in children with CP and CVI, microsurgeries were performed under intravenous combined inhalation anesthesia. The strabismus was examined by the prism test under best vision correction and the contrast sensitivity testing (CST) was measured at five levels of spatial frequencies. RESULT: A total of 38 exotropia patients with CP and CVI were identified and included for analysis during the study period with age ranged from 5 to 12 years (mean 8.45 years) and mean follow up duration was 8.7 months (6-42 months). After bilateral lateral rectus recession (with/without medial rectus resection or inferior oblique transposition), the exotropia amount of participants were obviously revealed from - 30 ~ - 140 (median, IQR: - 50, 40) prism diopters (PD) preoperatively to 0 ~ - 15 (0, 5) PD postoperatively. Statistically significantly improvements were observed at all levels of spatial frequency on CST postoperatively, especially at high spatial frequency areas (p < 0.05). CONCLUSION: Our results demonstrated that the effect of strabismus surgery on exotropia in children with CP and CVI were stable and monocular contrast sensitivity post- operation increased significantly at all spatial frequencies levels.


Assuntos
Paralisia Cerebral , Exotropia , Estrabismo , Paralisia Cerebral/complicações , Criança , Exotropia/diagnóstico , Exotropia/cirurgia , Seguimentos , Humanos , Lactente , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos/métodos , Estudos Retrospectivos , Estrabismo/cirurgia , Resultado do Tratamento , Transtornos da Visão , Visão Binocular
4.
Genes Genomics ; 44(6): 691-698, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35482246

RESUMO

BACKGROUND: Mitochondrial complex I deficiency (MCID) is the most common biochemical defect identified in childhood with mitochondrial diseases, mainly including Leigh syndrome, encephalopathy, macrocephaly with progressive leukodystrophy, hypertrophic cardiomyopathy and myopathy. OBJECTIVE: To identify genetic cause in a patient with early onset autosomal recessive MCID. METHODS: Trio whole-exome sequencing was performed and phenotype-related data analyses were conducted. All candidate mutations were confirmed by Sanger sequencing. RESULTS: Here we report a child of Leigh syndrome presented with global developmental delay, progressive muscular hypotonia and myocardial damage. A missense mutation c.118C > T (p.Arg40Trp) and a previously reported mutation c.1157G > A (p.Arg386His) in NDUFV1 have been identified as compound heterozygous in the patient. The mutation p.Arg386His is closely associated with the impairment of 4Fe-4S domain and this mutation has been reported pathogenic. The c.118C > T mutation has not been reported in ClinVar and HGMD database. In silico protein analyses showed that p.Arg40 is highly conserved in a wide range of species, and the amino acid substitution p.Trp40 largely decreases the stability of NDUFV1. In addition, the mutation has not been detected in the Asian populations and it was predicted to be deleterious by numerous prediction tools. CONCLUSION: This research expands the mutation spectrum of NDUFV1 and substantially provides an early and accurate diagnosis basis of MCID, which would benefit subsequently effective genetic counseling and prenatal diagnosis for future reproduction of the family.


Assuntos
Doença de Leigh , Doenças Mitocondriais , Complexo I de Transporte de Elétrons/deficiência , Complexo I de Transporte de Elétrons/genética , Humanos , Doença de Leigh/diagnóstico , Doença de Leigh/genética , Doença de Leigh/patologia , Doenças Mitocondriais/genética , Doenças Mitocondriais/patologia , Mutação
5.
Transl Androl Urol ; 10(2): 636-642, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33718066

RESUMO

BACKGROUND: This study aimed to investigate the effects of a high- and low-sodium diets on lithogenesis in a rat experimental model of calcium oxalate stones. METHODS: Twenty male Wistar rats were randomly divided into four groups; group A: 4% NaCl+1% ethylene glycol (EG); group B: 8% NaCl+1% EG; group C: 8% NaCl+normal drinking-water; group D: 1% EG +normal diet. All rats were sacrificed 4 weeks later, and blood samples were collected from the heart. The kidneys were collected for Von Kossa staining to evaluate the formation of calcium-containing crystals. The last 24-h urine samples were also gathered for metabolic analysis. RESULTS: Von Kossa staining demonstrated that the rats in both group A and group B had significantly more renal calcium crystals than those in group D. However, 24-h urinary volume increased significantly (142.26±20.91 mL) in group B compared with group A (100.52±28.23 mL), group C (107.36±14.24 mL), group D (40.79±8.71 mL) (P=0.004, 0.012, and 0.000 respectively). Level of urine sodium (Na), potassium (K), chlorine (Cl), and calcium (Ca), urea nitrogen were significantly higher in group B compared with group D. The urine phosphorus, oxalate, and creatinine levels; urine specific gravity; and urine PH were similar between group B and group D. The level of serum sodium was higher in group B (151.26±4.06 mmol/L) compared with group D (145.56±1.12 mmol/L) (P=0.002). CONCLUSIONS: A high sodium intake might increase the risk of lithogenesis in susceptible individuals (given by EG) or in individuals with water restriction.

6.
J Invest Surg ; 34(10): 1078-1082, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32401098

RESUMO

AIM: To evaluate the outcome of ultrasound (US)-guided minimally invasive percutaneous nephrolithotomy (MPCNL) in the management of upper ureteral and renal stones in pediatric patients. METHODS: We collected data of 112 pediatric patients who were admitted to the xxxx between March 2006 and December 2016 and treated by US-guided MPCNL. Our cohort included upper ureter stones (n = 11), single kidney stones (n = 46), multiple kidney stones (n = 56), and staghorn kidney stones (n = 12). RESULTS: Patients were between 0.5 and 13 years old with stone sizes from 10 to 50 mm. Operation duration ranged from 15 to 195 minutes. On average, the nephrostomy tube could be removed after 3.9 days and patients were discharged after 6.5 days. We found that hemoglobin concentration decreased in 34 patients after surgery by 1 to 37.8 g/L. Using US-guided MPCNL, the initial stone-free rate (SFR) was 86.4% and resulted in a final SFR of 95.2%. However, postoperative complications occurred in 18 patients including > 38.5 °C fever in 17 cases and reactive pleural effusion in one case. Blood transfusion was not required in all cases and no sepsis, kidney loss, ureteral stricture, and adjacent organ injury were observed. Follow-up after an average of 8.5 months showed normal renal function without hydronephrosis. However, recurrence of stones > 4 mm was found in 11 patients. CONCLUSIONS: US-guided MPCNL showed an excellent SFR and low complication rate in the management of pediatric patients with upper ureteral and renal stones.


Assuntos
Cálculos Renais , Nefrolitotomia Percutânea , Ureter , Adolescente , Criança , Pré-Escolar , Humanos , Lactente , Cálculos Renais/diagnóstico por imagem , Cálculos Renais/cirurgia , Procedimentos Cirúrgicos Minimamente Invasivos , Nefrolitotomia Percutânea/efeitos adversos , Estudos Retrospectivos , Resultado do Tratamento , Ultrassonografia de Intervenção
7.
Curr Eye Res ; 46(3): 355-360, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-32730713

RESUMO

PURPOSE: Using optical coherence tomography angiography (OCT-A) to compare the retinal micro vessel alteration between obstructive sleep apnea (OSA) children and normal subjects. METHODS: One hundred-thirty-two eyes (132 participants) were recruited in this study. The average age of OSA group (66 eyes) and healthy control group (66 eyes) were 6.23 ± 1.73 and 6.76 ± 1.89 years, respectively. The retinal vascular network density indices and the fovea avascular zone (FAZ) size were analyzed by OCT-A. RESULTS: All of the OCT-A parafoveal vessel indices, including the vascular diameter (VD), vascular area density (VAD), vascular skeleton density (VSD), and vessel perimeter index (VPI) in the macular superficial/deep capillary plexus (SCP/DCP) as well as the FAZ in the DCP, were significantly lower in the OSA group than in the control group (p < .05). The four parafoveal quadrants indices (temporal, superior, nasal, and inferior) of VD and VAD in both the two layer were significantly lower in the OSA group than in control group (p < .05). However, the differences of VSD and VPI indices in the SCP/DCP did not show statistical significant changes. CONCLUSION: The intermittent hypoxia in children with OSA might influence the retinal capillary vascular supply. We speculate that the indices of the quadrants are lower in OSA children compared with those in healthy controls, which may be due to the change of the retinal metabolic demands. OCT-A is an ideal method to evaluate the retinal alterations in pediatric OSA. ABBREVIATIONS: OCT-A: optical coherence tomography angiography; OSA: obstructive sleep apnea; FAZ: fovea avascular zone; VD: vascular diameter; VAD: vascular area density; VSD: vascular skeleton density; VPI: vessel perimeter index; SCP/DCP: superficial/deep capillary plexus; BCVA: best corrected visual acuity; SE: spherical equivalent; AL: ocular axial length; T: temporal; N: nasal; (S): superior; (I): inferior; (SD): standard deviation.


Assuntos
Angiofluoresceinografia/métodos , Macula Lutea/irrigação sanguínea , Doenças Retinianas/diagnóstico , Vasos Retinianos/diagnóstico por imagem , Apneia Obstrutiva do Sono/diagnóstico , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Capilares/diagnóstico por imagem , Criança , China/epidemiologia , Estudos Transversais , Feminino , Seguimentos , Fundo de Olho , Humanos , Incidência , Masculino , Doenças Retinianas/epidemiologia , Doenças Retinianas/etiologia , Estudos Retrospectivos , Apneia Obstrutiva do Sono/complicações , Apneia Obstrutiva do Sono/epidemiologia
8.
Comput Math Methods Med ; 2020: 6689023, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33381221

RESUMO

AIM: To identify the guinea pig eyeball with edge detection and curve fitting and devise a noncontact technology of measuring ocular morphological parameters of small experimental animal. METHODS: Thirty-nine eyeballs of guinea pig eyeballs were photographed to obtain the anterior and posterior surface; transverse and sagittal planes after the eyeballs were eviscerated. Next, the eyeball photos were input into digital image analysis software; the corresponding photo pixels-actual length ratio was acquired by a proportional scale. The contour lines of the eyeballs were identified by edge detection technology; conic curve fitting was applied to fit the contour line of the eyeball. The maximum and minimum diameters, the horizontal and vertical diameters, eccentricity, tilt angle, cross-sectional area, equatorial circumference, retrobulbar equatorial maximum length, corneal radius of curvature (CRC) in central region, and the whole cornea were calculated according to the geometric principles. The corneal data of in vitro study were compared with the in vivo results. RESULTS: The contour line of the selected guinea pig eye was identified correctly by edge detection. There were no significant differences between anterior and posterior surfaces of one eyeball in the maximum diameters, eccentricity, cross-sectional area, equatorial circumference, and tilt angle (P > 0.01). There were significant differences of eccentricity and CRC between central region and the whole cornea (P < 0.01). There were no significant differences between keratometer in vivo and cornea in vitro. CONCLUSION: It was feasible to measure an experimental animal eye in a noncontact way. Edge detection and curve fitting technology could accurately evaluate the ocular morphological parameters.


Assuntos
Olho/anatomia & histologia , Cobaias/anatomia & histologia , Animais , Biologia Computacional , Simulação por Computador , Córnea/anatomia & histologia , Técnicas de Diagnóstico Oftalmológico/veterinária , Humanos , Processamento de Imagem Assistida por Computador/estatística & dados numéricos , Conceitos Matemáticos , Modelos Anatômicos , Modelos Animais , Fotografação
9.
Transl Vis Sci Technol ; 9(2): 29, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32832202

RESUMO

Purpose: To assess whether a generative adversarial network (GAN) could synthesize realistic optical coherence tomography (OCT) images that satisfactorily serve as the educational images for retinal specialists, and the training datasets for the classification of various retinal disorders using deep learning (DL). Methods: The GANs architecture was adopted to synthesize high-resolution OCT images trained on a publicly available OCT dataset, including urgent referrals (37,206 OCT images from eyes with choroidal neovascularization, and 11,349 OCT images from eyes with diabetic macular edema) and nonurgent referrals (8617 OCT images from eyes with drusen, and 51,140 OCT images from normal eyes). Four hundred real and synthetic OCT images were evaluated by two retinal specialists (with over 10 years of clinical retinal experience) to assess image quality. We further trained two DL models on either real or synthetic datasets and compared the performance of urgent versus nonurgent referrals diagnosis tested on a local (1000 images from the public dataset) and clinical validation dataset (278 images from Shanghai Shibei Hospital). Results: The image quality of real versus synthetic OCT images was similar as assessed by two retinal specialists. The accuracy of discrimination of real versus synthetic OCT images was 59.50% for retinal specialist 1 and 53.67% for retinal specialist 2. For the local dataset, the DL model trained on real (DL_Model_R) and synthetic OCT images (DL_Model_S) had an area under the curve (AUC) of 0.99, and 0.98, respectively. For the clinical dataset, the AUC was 0.94 for DL_Model_R and 0.90 for DL_Model_S. Conclusions: The GAN synthetic OCT images can be used by clinicians for educational purposes and for developing DL algorithms. Translational Relevance: The medical image synthesis based on GANs is promising in humans and machines to fulfill clinical tasks.


Assuntos
Aprendizado Profundo , Retinopatia Diabética , Edema Macular , China , Retinopatia Diabética/diagnóstico por imagem , Humanos , Redes Neurais de Computação , Tomografia de Coerência Óptica
10.
Urol Int ; 104(9-10): 797-802, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32634810

RESUMO

OBJECTIVES: The aim of this study was to evaluate the characteristics of the renal arterial segment bleeding and assess the outcome of selective renal artery embolization (SRAE). METHODS: Data on 35 patients in whom SRAE was performed after percutaneous nephrolithotomy (PCNL) from January 2005 to December 2015 in our institute were retrospectively analyzed. All patients had severe bleeding but failed to respond to conservative therapy. RESULTS: Forty-four SRAEs were performed in 35 patients (36 kidney units) after PCNL. The findings of 44 renal arteriographies before embolization revealed bleeding in 44 renal artery branch segments. Upper artery segment bleeding in 0, upper and anterior segment bleeding in 3, lower and anterior artery segment bleeding in 6, lower artery segment bleeding in 9, posterior artery segment bleeding in 24, and negative finding in 2 patients. Renal arteriography revealed pseudoaneurysms in 20 (45.5%) patients, arteriovenous fistulas in 6 (13.6%) patients, renal artery branch laceration in 16 (36.4%) patients, and negative angiography finding in 2 (4.5%) patients. Acute bleeding in 7 patients (20.0%) and delayed bleeding in 28 patients (80.0%) were observed. The target vascular lesions were successfully treated by embolization in the first time in 28 cases. Six patients underwent 2 sessions and 1 had 3 sessions. New vascular lesions were the most common cause of failure of initial SEAE in our hospital. Abnormal renal function was observed in 5 patients, and they recovered to preoperative or normal level within 3 weeks. CONCLUSIONS: The posterior artery segment of the kidney is the most common bleeding site due to the choice of puncture site. Delayed bleeding (>24 h) was the most common type of bleeding. SRAE is an effective and safe method to treat the severe bleeding after PCNL.


Assuntos
Embolização Terapêutica/métodos , Nefrolitotomia Percutânea , Hemorragia Pós-Operatória/terapia , Artéria Renal , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Índice de Gravidade de Doença , Resultado do Tratamento , Adulto Jovem
11.
Front Genet ; 11: 142, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32218800

RESUMO

Retinoblastoma (Rb) is a primary intraocular malignant tumor that occurs primarily in children, and results from loss-of-function mutations in the RB transcriptional corepressor 1 (RB1) gene. Genetic testing forms the basis of genetic counseling for affected families, as well as for clinical management of this disease. The aim of this study was to identify germline RB1 mutations and correlate the identified mutations with the clinical features of Rb patients. Genomic DNA was isolated from peripheral blood of 180 unrelated Rb patients and their parents (118 unilaterally and 62 bilaterally affected probands). Mutations in the RB1 gene, including the promoter region and exons 1-27 with flanking intronic sequences, were identified by Sanger sequencing. The samples with negative sequencing results were further subjected to methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) to detect gross deletions or duplications. Sixty-three distinct mutations were identified in 75 of the 180 (41.7%) probands. Of the 75 patients carrying RB1 mutations, 56 developed bilateral Rb, while 19 developed unilateral Rb. The total detection rates for bilateral and unilateral Rb were 90.3% (56/62) and 16.1% (19/118), respectively. Among the 75 patients, the spectrum of mutation types comprised 29.3% (22/75) nonsense mutations, 22.7% (17/75) splicing mutations, 17.3% (13/75) small insertions/deletions, 16.0% (12/75) large deletions/duplications, and 13.3% (10/75) missense mutations, while only 1% (1/75) of the mutations were in the promoter region of the RB1 gene. Age at diagnosis was significantly different (p < 0.01) between patients with positive and negative test results for germline RB1 mutations. A c.2359C > T mutation (p.R787X) was identified in identical twins, but one child was affected bilaterally and the other unilaterally. Of the five patients with deletion of the entire RB1 gene, the deletion of two patients was inherited from unaffected parents. In conclusion, in this study, we provide a comprehensive spectrum of RB1 germline mutations in Chinese Rb patients, and describe the correlations among RB1 mutations, age at diagnosis, and laterality; moreover, we report that the clinical features of individuals carrying an identical mutation in the RB1 gene were highly variable, indicating that the pathogenesis of Rb is more complicated than currently believed.

12.
Medicine (Baltimore) ; 98(51): e18077, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31860958

RESUMO

RATIONALE: Angelman syndrome (AS) is an uncommon genetic disease characterized as serious retarded mental development and ocular abnormality. PATIENT CONCERNS: This report aims to present the ophthalmological features, and identify the diagnosis and outcomes of strabismus surgery in AS patients. DIAGNOSIS: Three children with exotropia were diagnosed with AS based on their typical clinical features. INTERVENTIONS: All patients underwent multiplex ligation-dependent probe amplification (MLPA) analysis and accepted lateral rectus recession surgery with the assistance of intravenous combined inhalation anesthesia. OUTCOMES: The maternal heritage deletion of chromosome 15q11.2-q13 was verified in all patients by MLPA. All patients with strabismus could not cooperate during the vision test, and had astigmatism. The strabismus type of AS patients was horizontal exotropia, and no vertical strabismus was found. One of these patients was combined with high myopia. The hypopigmentation on the hair and iris was ubiquitous. However, retina pigmentation was normal. After different degrees of lateral rectus recession, the exotropia was significantly relieved, and the surgical effects were stable postoperatively. LESSONS: Horizontal exotropia is the major strabismus type. Severe intellectual disability, hyperactivity, and speech impairment are the common characteristics of AS children. Its examination and operation design remains challenging. Thus, repeated examinations and intelligence rehabilitation are essential.


Assuntos
Síndrome de Angelman/diagnóstico , Exotropia/diagnóstico , Exotropia/cirurgia , Movimentos Oculares/fisiologia , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos/métodos , Síndrome de Angelman/complicações , Criança , Pré-Escolar , China , Exotropia/complicações , Feminino , Humanos , Masculino , Músculos Oculomotores/fisiopatologia , Prognóstico , Doenças Raras , Recuperação de Função Fisiológica , Estrabismo/complicações , Estrabismo/diagnóstico , Estrabismo/cirurgia , Resultado do Tratamento , Testes Visuais
13.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(3): 212-216, 2019 Mar 10.
Artigo em Chinês | MEDLINE | ID: mdl-30835348

RESUMO

OBJECTIVE: To analyze the clinical presentation and gene of 2 pedigrees with suspected oculocutaneous albinism(OCA), and provide basis for clinical classification, genetic counseling and prenatal diagnosis. METHODS: Variants were identified using next-generation sequencing(NGS) and confirmed by Sanger sequencing in 2 pedigrees with suspected OCA. The pathogenicity of the variants was analyzed according to the American College of Medical Genetics and Genomics (ACMG) standard. RESULTS: Two compound heterozygous mutations of TYR and OCA2 genes were identified respectively in 2 pedigrees with suspected OCA. The mutation of c.819+3insATATGCC in TYR and the mutation of c.1870G>C in OCA2 are first reported in this study. The pathogenicity analysis shows that two novel mutations are likely pathogenic by combination of prediction of SIFT, Polyphen-2 and Human Splicing Finder. CONCLUSION: The findings of this study expand the mutational spectrum of OCA. Compound heterozygous mutations in the TYR and OCA2 gene may be responsible for clinical manifestations of 2 pedigrees with suspected OCA.


Assuntos
Albinismo Oculocutâneo , Análise Mutacional de DNA , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Proteínas de Membrana Transportadoras , Monofenol Mono-Oxigenase , Mutação , Linhagem , Gravidez
14.
Int J Clin Exp Pathol ; 12(4): 1295-1304, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31933943

RESUMO

The androgen receptor (AR) plays a pivotal role in prostate cancer, making it a potential therapeutic target. Short-hairpin RNA (shRNA) inhibits gene expression and offers a novel strategy to eradicate disease. Ultrasound-mediated gene transfection is a promising gene delivery method. This study sought to determine whether targeting silencing androgen receptor gene by shRNA with low-intensity focused ultrasonic irradiation could be used as effective therapy for prostate cancers in vivo. A plasmid-based short-hairpin RNA combined with low-intensity focused ultrasonic irradiation approach was used to specifically knock down the expression of AR in prostate cancer 22RV1 cells in vivo. The growth of 22RV1 tumors that had been subcutaneously xenografted was evaluated and expression level of AR was determined by immunohistochemical staining. The proliferative index (PI) and the apoptotic index (AI) were respectively derived from the percentage of positive cells by Ki-67 immunohistochemical staining and TUNEL assay. The plasmid-based AR shRNA administrated intravenously significantly inhibited the tumor growth and AR expression. These inhibitory effects of AR shRNA were augmented when the region of tumor received low-intensity focused ultrasound irradiation. Immunohistochemical staining and TUNEL assay confirmed AR shRNA with low-intensity focused ultrasonic irradiation exhibited growth-inhibitory, antiproliferative, and apoptotic effects on prostate cancer xenografts. The authors showed for the first time that the knockdown of AR expression by plasmid-based AR shRNA with low-intensity focused ultrasonic irradiation significantly suppressed the tumor growth of prostate cancer in vivo.

15.
Graefes Arch Clin Exp Ophthalmol ; 257(3): 543-548, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30539310

RESUMO

PURPOSE: To evaluate the effect of adenoidectomy on the brains of children with obstructive sleep apnea-hypopnea syndrome (OSAS) through observation of the alteration of retinal perfusion by optical coherence tomography angiography (OCTA). METHODS: Sixty-two children with OSAS (124 eyes; 5.94 ± 1.64 years old; 53.2% boys) were enrolled in this study. Their retinal vascular network density indices, including vascular diameter (VD), vascular area density (VAD), vessel skeleton density (VSD), vessel perimeter index (VPI) on the macular superficial/deep capillary plexus (SCP/DCP), and the size of the foveal avascular zone (FAZ) were analyzed by OCTA before treatment and at 1 month after the adenoidectomy. RESULTS: After the adenoidectomy, the values of VD, VAD, VSD, and VPI in the SCP/DCP of the parafovea were significantly increased (p < 0.01). The FAZ was significantly diminished in the SCP (t = 4.50, p < 0.05) and increased in the DCP (t = - 4.43, p < 0.05). The peripapillary indices in the SCP/DCP were not significantly changed (p > 0.05). CONCLUSION: By improvement of hypoxia, the response of the parafoveal vessels was more sensitive than that of the peripapillary region in children with OSAS. Therefore, OCTA may be an ideal method to evaluate the changes of the retinal vascular system, which could be an effective parameter for the early evaluation of adenoidectomy on cases of pediatric OSAS.


Assuntos
Adenoidectomia , Angiofluoresceinografia/métodos , Doenças Retinianas/diagnóstico , Vasos Retinianos/patologia , Apneia Obstrutiva do Sono/cirurgia , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Criança , Pré-Escolar , Feminino , Seguimentos , Fundo de Olho , Humanos , Masculino , Doenças Retinianas/etiologia , Estudos Retrospectivos , Apneia Obstrutiva do Sono/complicações
16.
Int J Ophthalmol ; 11(8): 1352-1357, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30140640

RESUMO

AIM: To describe the clinical features of congenital double elevator palsy (CDEP) and to evaluate various surgical outcomes between the standard Knapp and augmented Knapp procedures, based on improvements in primary eye position and ocular motility. METHODS: Twenty-two patients with CDEP at Shanghai Children's Hospital were enrolled from July 2014 to January 2018. The forced duction test (FDT) was negative in 21 patients, aged 8mo to 12y (mean 5.4y). Patients were divided into two treatment groups: 16 patients underwent the standard Knapp procedure (group A), with or without horizontal squint procedure; and 5 patients underwent the augmented Knapp procedure (Foster procedure; group B). One patient underwent inferior rectus recession in the affected eye and superior rectus recession in the sound eye because of a positive FDT. The pre- and postoperative vertical deviations in the primary position and ocular motility were compared in the two groups. RESULTS: Twenty-one eyes of the 22 patients (95%) were aligned within 10 prism diopters (PD), and all patients (100%) reached ≥25% elevation improvement after surgery. The average corrected vertical deviation in group B was statistically better than that of group A. For group A, the vertical deviation in the primary position decreased from 24.75Δ±8.35Δ to 4.56Δ±8.07Δ after surgery, for an improvement of 23.06Δ±6.51Δ (P<0.05). In group B, the decrease was from 35.00Δ±5.00Δ (range 30Δ-40Δ) to 1.00Δ±2.24Δ, for an improvement of 34.00Δ±4.18Δ (P<0.05). There were significant differences between the pre- and postoperative elevation in each group (group A, P<0.05; group B, P<0.05). The average scale of improved elevation in group B (1.80±0.45) was not significantly better than that of group A (1.69±0.87; Z=-0.732, P=0.548). The average follow-up periods lasted 21mo in group A and 18mo in group B. CONCLUSION: For vertical deviations <30Δ, the standard Knapp procedure can be chosen. For deviations greater than 30Δ-40Δ, the Foster procedure should be chosen. Because of our early interference, the inferior rectus (IR) muscle did not show mechanical restriction. Monocular elevation deficiency (MED) should be diagnosed early so that complications will be reduced and the procedure will be easier for the surgeon.

17.
Lasers Med Sci ; 33(5): 1103, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29744753

RESUMO

The published online version contains incorrect data in Table 2 caption. Argon should not be mentioned in the caption as this is not used in this paper.

18.
Lasers Med Sci ; 33(5): 1095-1102, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29542045

RESUMO

Panretinal photocoagulation (PRP) is a standard method for proliferative diabetic retinopathy (PDR) treatment. However, conventional PRP usually significantly damages the retinal structure and vision. Retinal pattern scanning laser (PASCAL) photocoagulation has emerged as a new technique with fewer complications for the treatment of retinal disorders. This study compares the therapeutic effects of short-pulse PASCAL to conventional single-spot PRP for PDR. Fifty-two PDR patients (104 eyes) were randomly assigned into a short-pulse PASCAL-PRP treatment (SP) group and a conventional PRP treatment (TP) group. The best corrected visual acuity (BCVA) and full-field flash electroretinogram (ERG) data were evaluated before and after the two treatments. The BCVA data between before and after the PRP treatments did not show any significant difference. After the PRP treatment, the b-wave amplitude (b-A) in the dark-adapted 3.0 ERG (p = 0.0005) and the amplitude in the light-adapted 3.0 flicker ERG (p = 0.009) were significantly higher in the SP group compared with that of the TP group. In addition, after the PRP treatment, the a-wave implicit time (a-T) of light-adapted 3.0 ERG prolonged significantly in the TP group compared to the SP group. Compared with the parameters before the treatments, the a-A and b-A under dark-adapted 3.0 ERG and the b-A under the light-adapted 3.0 ERG in both TP and SP groups after the treatments decreased significantly (p < 0.05). Short-pulse PASCAL-PRP significantly attenuated partial vision damage compared to conventional PRP, although it still caused limited retinal injury and mild reduction in retinal function. These findings suggest that short-pulse PASCAL-PRP is a promising technique for PDR treatment.


Assuntos
Retinopatia Diabética/diagnóstico por imagem , Retinopatia Diabética/cirurgia , Fotocoagulação a Laser , Idoso , Eletrorretinografia , Feminino , Humanos , Fotocoagulação a Laser/métodos , Masculino , Pessoa de Meia-Idade , Retina/diagnóstico por imagem , Retina/cirurgia , Resultado do Tratamento , Acuidade Visual
19.
Exp Cell Res ; 365(2): 163-170, 2018 04 15.
Artigo em Inglês | MEDLINE | ID: mdl-29477618

RESUMO

The third subunit of the COP9 signalosome (COPS3) is associated with cell proliferation and tumorigenesis process in cancer. The present study showed that the expression level of COPS3 was upregulated in malignant cell lines and COPS3 overexpression was related with clinical stage, T stage, historical grade. Kaplan-Meier survival curves showed that COPS3 may function as a prognostic factor for overall survival. CCK-8 and colony formation assays revealed that knockdown of COPS3 in ACHN and 786-O significantly impacted proliferation in vitro. In addition, flow cytometry showed that inhibition of COPS3 induced G0/G1 arrest and promoted apoptosis. COPS3 may promote kidney cancer progression by altering Phospho-AKT(Thr308), Cyclin D1 and Caspase-3 expression. Collectively, Our findings suggest that COPS3 may be a new potential target of ccRCC.


Assuntos
Complexo do Signalossomo COP9/genética , Carcinoma de Células Renais/patologia , Caspase 3/genética , Proliferação de Células/genética , Ciclina D1/genética , Neoplasias Renais/patologia , Proteínas Proto-Oncogênicas c-akt/metabolismo , Proteínas Proto-Oncogênicas/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Complexo do Signalossomo COP9/metabolismo , Carcinoma de Células Renais/genética , Caspase 3/metabolismo , Linhagem Celular Tumoral , Ciclina D1/metabolismo , Progressão da Doença , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Neoplasias Renais/genética , Masculino , Pessoa de Meia-Idade , Fosforilação/genética , Proteínas Proto-Oncogênicas/metabolismo , Proteínas Proto-Oncogênicas c-akt/genética , Transdução de Sinais/genética , Análise Serial de Tecidos , Regulação para Cima/genética
20.
Beijing Da Xue Xue Bao Yi Xue Ban ; 47(6): 1039-41, 2015 Dec 18.
Artigo em Chinês | MEDLINE | ID: mdl-26679674

RESUMO

Intravesical bacillus Calmette-Guerin (BCG) was a common treatment for non-muscle invasive urothelial carcinoma of the bladder. The complication of prostatic abscess was rare. We reported a case of tuberculous prostatic abscess after BCG therapy. A 65-year-old man was diagnosed as bladder cancer and accepted transurethral resection of bladder tumor (TURBT) treatment. He received a 6-week induction course without any infection complication. Following the second BCG maintenance instillation, he complained of fever and dysuria. Transrectal ultrasound (TRUS) demonstrated a well-defined complex mass in the right lobe of his prostate. The diagnosis of tuberculous prostatic abscess was considered after excluding other bacterial infection. The patient was treated with an anti-tuberculous regimen of isoniazid, rifampicin, and ethambutol. The symptoms were relieved after 4 weeks of anti-tuberculous therapy. Because of the good response to the medicine, no further aspiration or drainage of prostatic abscess was carried out. The anti-tuberculous therapy had to be stopped for serious drug induced liver injury after 6 weeks of anti-tuberculous therapy. Eight weeks later of stopping anti-tuberculous therapy, the follow-up TRUS showed the disappearance of the prostatic abscess and the test of his liver function was normal. Considering the virulence of BCG is weaker than that of common tuberclebacillus, the shorter course of anti-tuberculous therapy maybe an alternative choice, and surgical drainage is not always necessary.


Assuntos
Abscesso/induzido quimicamente , Administração Intravesical , Vacina BCG/efeitos adversos , Imunoterapia/efeitos adversos , Doenças Prostáticas/induzido quimicamente , Tuberculose/diagnóstico , Abscesso/diagnóstico , Idoso , Antineoplásicos , Carcinoma in Situ , Drenagem , Humanos , Masculino , Doenças Prostáticas/diagnóstico , Neoplasias da Bexiga Urinária/cirurgia
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