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1.
J Pediatr Ophthalmol Strabismus ; : 1-9, 2024 Jun 27.
Artigo em Inglês | MEDLINE | ID: mdl-38940310

RESUMO

PURPOSE: To introduce the application of novel fixable instruments in strabismus surgery without surgical assistants. METHODS: Patients with strabismus requiring surgical treatment were recruited. Under general anesthesia all patients underwent surgery with the three novel kinds of fixable instruments without assistants. The operation time of each muscle was recorded separately. RESULTS: A total of 30 patients were enrolled in this study. There were 34 lateral rectus muscles, 22 medial rectus muscles, 2 superior rectus muscles, 2 inferior rectus muscles, and 14 inferior oblique muscles. The amount of recession and resection of the lateral rectus muscle was 6 to 11 and 4 to 6 mm, respectively, and the operation time of each muscle was between 8 and 12 minutes (mean ± standard deviation: 9.88 ± 1.59 minutes). The amount of recession and resection of the medial rectus muscle was 5 to 6.5 and 4 to 6 mm, respectively, and the operation time of each muscle was 7 to 14 minutes (mean ± standard deviation: 10.59 ± 2.38 minutes). Two superior rectus muscles were recessed 7 and 9 mm and the operation time was 8 and 10 minutes, respectively. Two inferior rectus muscles were recessed 4 and 5 mm and the operation time was 7 and 9 minutes, respectively. In addition, the operation time of each oblique muscle was 6 to 10 minutes (mean ± standard deviation: 8.57 ± 1.40 minutes). All patients recovered ocular alignment with no adverse reaction in eyes on the first day after surgery. CONCLUSIONS: With the assistance of the novel fixable instruments, the surgeon can easily perform routine strabismus surgeries even without surgical assistants. [J Pediatr Ophthalmol Strabismus. 20XX;X(X):XX-XX.].

2.
Exp Neurol ; 370: 114571, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37848121

RESUMO

BACKGROUND: Astrocytes have been demonstrated to undergo conversion into functional neurons, presenting a promising approach for stroke treatment. However, the development of small molecules capable of effectively inducing this cellular reprogramming remains a critical challenge. METHODS: Initially, we introduced a glial cell marker gene, GFaABC1D, as the promoter within an adeno-associated virus vector overexpressing miR-124 into the motor cortex of an ischemia-reperfusion model in rats. Additionally, we administered NeuroD1 as a positive control. Lentiviral vectors overexpressing miR-124 were constructed and transfected into primary rat astrocytes. We assessed the cellular distribution of GFAP, DCX, and NeuN on days 7, 14, and 28, respectively. RESULTS: In rats with ischemic stroke, miR-124-transduced glial cells exhibited positive staining for the immature neuron marker doublecortin (DCX) and the mature neuron marker NeuN after 4 weeks. In contrast, NeuroD1-overexpressing model rats only expressed NeuN, and the positive percentage was higher in co-transfection with miR-124 and NeuroD1. Overexpression of miR-124 effectively ameliorated neurological deficits and motor functional impairment in the model rats. In primary rat astrocytes transduced with miR-124, DCX was not observed after 7 days of transfection, but it appeared at 14 days, with the percentage further increasing to 44.6% at 28 days. Simultaneously, 15.1% of miR-124-transduced cells exhibited NeuN positivity, which was not detected at 7 and 14 days. In vitro, double fluorescence assays revealed that miR-124 targeted Dll4, and in vivo experiments confirmed that miR-124 inhibited the expression of Notch1 and DLL4. CONCLUSIONS: The overexpression of miR-124 in astrocytes demonstrates significant potential for improving neurological deficits following ischemic stroke by inhibiting DLL4 expression, and it may facilitate astrocyte-to-neuronal transformation.


Assuntos
Isquemia Encefálica , AVC Isquêmico , MicroRNAs , Acidente Vascular Cerebral , Ratos , Animais , Astrócitos/metabolismo , AVC Isquêmico/genética , AVC Isquêmico/metabolismo , Neurônios/metabolismo , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/genética , Acidente Vascular Cerebral/metabolismo , MicroRNAs/genética , MicroRNAs/metabolismo , Isquemia Encefálica/metabolismo
3.
Graefes Arch Clin Exp Ophthalmol ; 259(2): 527-532, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32845371

RESUMO

PURPOSE: To evaluate monocular accommodation changes after strabismus surgery with and without anterior ciliary vessel preservation. METHODS: Sixty patients with horizontal concomitant strabismus who were scheduled to undergo monocular strabismus surgeries were randomly divided into two groups: A (without anterior ciliary vessel preservation) and B (with anterior ciliary vessel preservation). Group A was further divided into groups A1 (surgical eyes without anterior ciliary vessel preservation) and A2 (corresponding nonsurgical eyes). Group B was further divided into groups B1 (surgical eyes with anterior ciliary vessel preservation) and B2 (corresponding nonsurgical eyes). Monocular accommodative amplitude (AA) and accommodative facility (AF) were evaluated before and 1 day after the surgery to assess accommodation. RESULTS: In groups A2, B1, and B2, the AA and AF values showed no significant difference preoperatively or postoperatively. However, compared with preoperative values, both the postoperative AA and AF values were significantly reduced in group A1. CONCLUSION: Strabismus surgery without anterior ciliary vessel preservation reduces monocular accommodation, whereas strabismus surgery with anterior ciliary vessel preservation protects accommodation.


Assuntos
Acomodação Ocular , Estrabismo , Olho , Humanos , Músculos Oculomotores/cirurgia , Período Pós-Operatório , Estrabismo/cirurgia
4.
J Mol Neurosci ; 71(2): 293-301, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32705527

RESUMO

Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder caused by ROBO3 gene mutations. To date, the number of confirmed HGPPS cases caused by gene mutations is estimated at 76. However, HGPPS caused by ROBO3 gene mutation has not been reported in the Chinese population. In this study, the clinical data, brain imaging features, somatosensory evoked potentials (SEP), and ROBO3 gene mutations were obtained for two Chinese patients with HGPPS. The proband was an 11-year-old boy. He developed horizontal eye movement disorder at the age of 1 year and scoliosis at the age of 11 years. Two eyeballs fixed in the midline position were revealed by neurological examination. A dorsal cleft in the pons and a butterfly-shaped medulla were shown by brain magnetic resonance imaging. Again, most corticospinal bundles did not cross in the brainstem, as revealed by diffusion tensor imaging. SEP confirmed that most somatosensory projections were uncrossed. The proband's 7-year-old brother exhibited similar clinical manifestations and imaging features. The brothers had compound heterozygous mutations c.3165G>A (p.W1055X) and c.955G>A (p.E319K) of the ROBO3 gene. The c.3165G>A mutation is a novel nonsense mutation that has not been previously reported. This study reports the first two cases of HGPPS carrying a novel ROBO3 gene mutation in patients from a Chinese family, thereby expanding the disease spectrum. Reports from the literature show that missense mutation is the most common mutational type in the ROBO3 gene. Early ROBO3 gene detection is required for patients exhibiting early-onset eyeball movement disorder to confirm HGPPS disease.


Assuntos
Povo Asiático/genética , Códon sem Sentido , Oftalmoplegia Externa Progressiva Crônica/genética , Receptores de Superfície Celular/genética , Escoliose/genética , Adulto , Criança , Imagem de Tensor de Difusão , Potenciais Somatossensoriais Evocados , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Bulbo/diagnóstico por imagem , Bulbo/patologia , Neuroimagem , Oftalmoplegia Externa Progressiva Crônica/diagnóstico por imagem , Oftalmoplegia Externa Progressiva Crônica/etnologia , Oftalmoplegia Externa Progressiva Crônica/fisiopatologia , Ponte/diagnóstico por imagem , Ponte/patologia , Tratos Piramidais/anormalidades , Tratos Piramidais/diagnóstico por imagem , Receptores de Superfície Celular/fisiologia , Escoliose/diagnóstico por imagem , Escoliose/etnologia , Escoliose/fisiopatologia
6.
Mol Med Rep ; 18(3): 2816-2822, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30015830

RESUMO

Exploring the genetic basis for idiopathic congenital nystagmus is critical for improving our understanding of its molecular pathogenesis. In the present study, direct sequencing using gene specific primers was performed in order to identify the causative mutations in two brothers from a Chinese family who had been diagnosed with idiopathic congenital nystagmus. A comprehensive ophthalmological examination, including eye movement recordings, fundus examination, and retinal optical coherence tomography imaging was also conducted, to characterize the disease phenotype. The results revealed that the two brothers exhibited clear signs of nystagmus without any other ocular anomalies. Direct sequencing revealed a G to T transition (c.886G>T) in exon 9 of the four­point­one, ezrin, radixin, moesin domain­containing 7 (FRMD7) gene, which resulted in a conservative substitution of glycine to cysteine at codon 296 (p.G296C), leading to idiopathic congenital nystagmus in the two affected brothers. c.886G>T is a novel idiopathic congenital nystagmus­inducing mutation in the FRMD7 gene. This finding expands the spectrum of known gene mutations in idiopathic congenital nystagmus, and may be useful for faster gene diagnosis, prenatal testing, the development of potential gene therapies, and for improving the understanding of the molecular pathogenesis of idiopathic congenital nystagmus.


Assuntos
Proteínas do Citoesqueleto/genética , Proteínas de Membrana/genética , Nistagmo Congênito/diagnóstico , Alelos , Sequência de Aminoácidos , Estudos de Casos e Controles , Criança , Proteínas do Citoesqueleto/química , Análise Mutacional de DNA , Éxons , Humanos , Masculino , Proteínas de Membrana/química , Mutação de Sentido Incorreto , Nistagmo Congênito/genética , Linhagem , Fenótipo
7.
Graefes Arch Clin Exp Ophthalmol ; 255(12): 2451-2457, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28965164

RESUMO

PURPOSE: To investigate the significance of the anterior ciliary vessels (ACVs) preservation during the conventional horizontal strabismus surgery. METHODS: Patients (≥ 8 years) with horizontal strabismus were randomly allocated into group 1 (with ACV preservation) and group 2 (without ACV preservation). The surgical eyes in group 1 were further divided into group A (one rectus muscle operated) and group B (two rectus muscles operated). Similarly, eyes in group 2 were divided into group C (one rectus muscle operated) and group D (two rectus muscles operated). The success rate of ACV preservation was calculated. The anterior chamber flare measurements of each eye by laser flare photometry were recorded on the day prior to and after operation. The flare values between groups and between pre- and post-operation in each group were compared by one-way analysis of variance and a paired t-test respectively. RESULTS: In groups A and B, the success rate of ACV preservation was 82% (27/33) and 70% (28/40)respectively, and the flare values between pre- and post-operation showed no significant differences(4.378 ± 1.527, 4.544 ± 1.452, P = 0.526; 4.625 ± 1.090, 4.989 ± 1.468, P = 0.101 respectively). However, the postoperative values were significantly increased in group C and group D(4.661 ± 1.031, 5.039 ± 1.310, P = 0.025; 4.933 ± 1.691, 5.502 ± 1.430, P = 0.000 respectively). The postoperative flare readings of group D were significantly higher than group B, while group A and group C had no significant variation. CONCLUSION: ACV preservation probably has clinical significance in reducing the undesirable influence on the blood-aqueous barrier.


Assuntos
Barreira Hematoaquosa/fisiologia , Artérias Ciliares/lesões , Isquemia/prevenção & controle , Músculos Oculomotores/irrigação sanguínea , Procedimentos Cirúrgicos Oftalmológicos/efeitos adversos , Complicações Pós-Operatórias/prevenção & controle , Estrabismo/cirurgia , Adolescente , Adulto , Idoso , Câmara Anterior/diagnóstico por imagem , Criança , Feminino , Humanos , Isquemia/etiologia , Isquemia/fisiopatologia , Masculino , Pessoa de Meia-Idade , Músculos Oculomotores/cirurgia , Fotometria , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/fisiopatologia , Adulto Jovem
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