13 research outputs found

    Postoperative Correction and Drift After Vertical Rectus Muscle Transposition for Total Sixth Cranial Nerve Palsy

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    To determine the magnitude of change between the preoperative and postoperative alignment and amount of postoperative drift for two vertical rectus muscle transpositions (VRTs). Retrospective review of medical records of patients with total sixth cranial nerve palsy who underwent VRT procedures. The primary outcome measure was the magnitude of esotropia in prism diopters (PD) at the preoperative and postoperative visits. Twenty-seven patients were included. Sixteen had full tendon transposition with Foster augmentation (FTT+FA) and 11 had partial tendon transposition with resection and simultaneous medial rectus recession (PTT+R+MRR). A larger correction was obtained with PTT+R+MRR (mean ± standard deviation [SD]: 52 ± 19 PD; range: 27 to 87 PD) when compared to FTT+FA (mean: 40 ± 13 PD; range: 15 to 68 PD). At postoperative month 2, a greater esotropic drift was noted in the PTT+R+MRR group (16 PD) than the FTT+FA group (6 PD). Although the difference in the amount of correction was not statistically significant (P = .071), the difference in the amount of drift was statistically significant (P = .009). There was a trend toward greater correction with PTT+R+MRR than FTT+ FA, but it was not statistically significant. FTT+FA had significantly less postoperative drift than PTT+R+MRR. The results suggest that a small immediate postoperative overcorrection may be desirable in some VRT procedures. [J Pediatr Ophthalmol Strabismus. 2019;56(4):238-242.]

    Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.

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    Alström Syndrome is a ciliopathy associated with obesity, insulin resistance/type 2 diabetes mellitus, cardiomyopathy, retinal degeneration, hearing loss, progressive liver and kidney disease, and normal cognitive function. ALMS1, the protein defective in this disorder, localizes to the cytoskeleton, microtubule organizing center, as well as the centrosomes and ciliary basal bodies and plays roles in formation and maintenance of cilia, cell cycle regulation, and endosomal trafficking. Kidney disease in this disorder has not been well characterized. We performed comprehensive multisystem evaluations on 38 patients. Kidney function decreased progressively; eGFR varied inversely with age (p = 0.002). Eighteen percent met the definition for chronic kidney disease (eGFR \u3c 60 mL/min/1.73 m2 and proteinuria); all were adults with median age of 32.8 (20.6-37.9) years. After adjusting for age, there were no significant associations of kidney dysfunction with type 2 diabetes mellitus, dyslipidemia, hypertension, cardiomyopathy or portal hypertension suggesting that kidney disease in AS is a primary manifestation of the syndrome due to lack of ALMS1 protein. Approximately one-third of patients had hyperechogenicity of the renal parenchyma on imaging. While strict control of type 2 diabetes mellitus may decrease kidney-related morbidity and mortality in Alström syndrome, identification of novel targeted therapies is needed
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