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coloboma/astenia

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11 resultados

Lens coloboma associated with a ciliary body cyst.

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Isolated congenital lens coloboma is a sectoral indentation of the crystalline lens due to zonular weakness or absence. The purpose of this report is to describe the association of lens coloboma with an adjacent cyst in the ciliary body and to suggest that ciliary body cysts may be an

Capsular tension ring use in a patient with congenital coloboma of the lens.

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Cataract surgery was performed in a 63-year-old man with bilateral coloboma of the lens. There was no traumatic history, but the patient had lower zonule deficiency and zonular weakness in both eyes, leading us to suspect congenital coloboma of the lens. In the first eye having cataract surgery, it

Neuromuscular transmission and muscle contractility in SNAP-25-deficient coloboma mice.

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Synaptosomal associated protein of 25 kDa (SNAP-25) is a cytoplasmic protein that participates in the docking and fusion of synaptic vesicles with the nerve terminal in preparation for neurotransmitter release. SNAP-25 is also a substrate for three of the seven serotypes of botulinum neurotoxin

Outcome of Capsular Tension Ring (CTR) Implant in Complicated Cataracts.

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BACKGROUND Surgery in the presence of zonular weakness or subluxated lens was a great surgical challenge and included intracapsular cataract extraction with anterior chamber IOL implantation or pars plana lensectomy and vitrectomy with a sutured (IOL). Modern surgical approache involves placement of

Ocular findings in triploidy.

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We studied the abnormal ocular and systemic findings in one case of true triploidy and two cases of triploid mosaicism. A liveborn triploid child 69,XXY, had abnormalities including cebocephaly, a single midline nostril, incomplete cleft palate, transverse palmar creases, partial syndactyly, and

"Phacing" a New Cause of Carotid Artery Dissection.

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BACKGROUND Cervical arterial dissection (CAD) is a frequent and preventable cause of ischemic stroke in young patients. Several arguments suggest that genetic and developmental disorders could play an important role as part of a multifactorial predisposition of sporadic CAD.We present 2 cases of

Congenital aplasia of the semicircular canals.

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OBJECTIVE To describe the underrecognized inner ear malformation characterized by complete aplasia of the labyrinthine semicircular canals associated with a relatively well-formed cochlea, to investigate its relationship with known syndromic forms of hearing loss, and to hypothesize regarding the

The capsular tension ring: designs, applications, and techniques.

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Originally, the open poly(methyl methacrylate) (PMMA) capsular tension ring (CTR) was designed to compensate for zonular defects or to stretch the posterior capsule in highly myopic eyes not receiving an intraocular lens (IOL). We address the variety of subsequent designs, applications, and

[Diagnosis and treatment of primary intraspinal abscess].

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To summarize the feature and treatment of the primary intraspinal abscess in order to improve the prognosis.In the study, 13 cases of primary intraspinal abscess of the recent 20 years were retrospectively analyzed. The history, etiology, pathogen, surgical
OBJECTIVE To reveal the indications, clinical outcomes and complications of capsular tension ring (CTR) implantation in a series of consecutive phacoemulsification surgeries during a three-year interval. METHODS A review of all patients undergoing cataract surgery with insertion of a CTR between

Assessing pathogenicity for novel mutation/sequence variants: the value of healthy older individuals.

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Improvement in DNA technology is increasingly revealing unexpected/unknown mutations in healthy persons and generating anxiety due to their still unknown health consequences. We report a 44-year-old healthy father of a 10-year-old daughter with bilateral coloboma and hearing loss, but without muscle
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