1000 resultados para 23-224


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Newsletter for Iowa Lottery

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Interstitial deletions of 7q11.23 cause Williams-Beuren syndrome, one of the best characterized microdeletion syndromes. The clinical phenotype associated with the reciprocal duplication however is not well defined, though speech delay is often mentioned. We present 14 new 7q11.23 patients with the reciprocal duplication of the Williams-Beuren syndrome critical region, nine familial and five de novo. These were identified by either array-based MLPA or by array-CGH/oligonucleotide analysis in a series of patients with idiopathic mental retardation with an estimated population frequency of 1:13,000-1:20,000. Variable speech delay is a constant finding in our patient group, confirming previous reports. Cognitive abilities range from normal to moderate mental retardation. The association with autism is present in five patients and in one father who also carries the duplication. There is an increased incidence of hypotonia and congenital anomalies: heart defects (PDA), diaphragmatic hernia, cryptorchidism and non-specific brain abnormalities on MRI. Specific dysmorphic features were noted in our patients, including a short philtrum, thin lips and straight eyebrows. Our patient collection demonstrates that the 7q11.23 microduplication not only causes language delay, but is also associated with congenital anomalies and a recognizable face.

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BACKGROUND: The correction of oculomotor disorder in Grave's disease is applied on pathological extraocular muscles. Based on the global muscular restriction (bilateral forced duction test) and angular measurements, we have used a non-adjustable technique. PATIENTS AND METHODS: We performed a retrospective analysis of 21 patients (23 operations) with thyroid-associated orbitopathy operated for persisting diplopia. The angles of deviation in the 9 diagnostic directions of gaze and the field of binocular vision were measured with the Harm's tangent scale before and after surgery. Sixteen patients were operated only on vertical muscles. The mean follow-up was 45 months. RESULTS: 76 % of the patients (95 % confidence interval [CI], 58-94 %) obtained a large and centred field of binocular vision without prisms. 14 % (95 % CI, 0-29 %) had binocular vision with the use of prisms. Diplopia persisted in one patient despite 3 operations. Taking into consideration the interventions done before the patient was referred to us, the reintervention rate was 13 % (95 % CI, 0-28 %). CONCLUSIONS: A binocular field of vision can be successfully restored in the majority of patients with Graves' orbitopathy, using a non-adjustable surgical technique.

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Weekly newsletter for the State of Iowa Alcoholic Beverages Division

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Référence bibliographique : Rol, 57030

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Newsletter for the State of Iowa Alcoholic Beverages Division

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Référence bibliographique : Rol, 58178

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Référence bibliographique : Rol, 58177

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Iowa Lottery Authority Retailer Information Newsletter

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Iowa Lottery Authority Retailer Information Newsletter

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Weekly newsletter for the State of Iowa Alcoholic Beverages Division