The Effects of Oxybutynin on Urinary Symptoms in Children with Williams-Beuren Syndrome

Purpose: Williams-Beuren syndrome is a genomic disorder caused by a hemizygous contiguous gene deletion on chromosome 7q11.23. Lower urinary tract symptoms are common in children with Williams-Beuren syndrome. However, there are few data on the management of voiding symptoms in this population. We report our experience using oxybutynin to treat urinary symptoms in children with Williams-Beuren syndrome. Materials and Methods: We prospectively analyzed 42 patients with Williams-Beuren syndrome and significant lower urinary tract symptoms due to detrusor overactivity diagnosed on urodynamics in a 12-week, open-label study. Urological assessment included symptomatic evaluation, the impact of lower urinary tract symptoms on quality of life, frequency-volume chart, urodynamics and urinary tract sonography. After 12 weeks of treatment with 0.6 mg/kg oxybutynin per day given in 3 daily doses, patients were assessed for treatment efficacy and side effects. Results: A total of 17 girls and 19 boys completed medical therapy and were assessed at 12 weeks. Mean +/- SD patient age was 9.2 +/- 4.3 years (range 3 to 18). The most common urinary complaint was urgency, which occurred in 31 patients (86.1%), followed by urge incontinence, which was seen in 29 (80.5%). Compared to baseline, urinary symptoms were substantially improved. The negative impact of storage symptoms on quality of life was significantly decreased from a mean +/- SD of 3.3 +/- 1.7 to 0.5 +/- 0.9 (p <0.001). Mean +/- SD maximum urinary flow improved from 14.2 +/- 15.0 to 20.5 +/- 6.4 ml per second (p <0.001). Conclusions: A total of 12 weeks of therapy with 0.6 mg/kg oxybutynin daily resulted in improvement of lower urinary tract symptoms, quality of life and maximum flow rate in most patients with Williams-Beuren syndrome.

Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries

Abstract Background Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis (SVAS), mental retardation, and overfriendliness comprise typical symptoms of WBS. Although fluorescence in situ hybridization (FISH) is considered the gold standard technique, the microsatellite DNA markers and multiplex ligation-dependent probe amplification (MLPA) could be used for to confirm the diagnosis of WBS. Results We have evaluated a total cohort of 88 patients with a suspicion clinical diagnosis of WBS using a collection of five markers (D7S1870, D7S489, D7S613, D7S2476, and D7S489_A) and a commercial MLPA kit (P029). The microdeletion was present in 64 (72.7%) patients and absent in 24 (27.3%) patients. The parental origin of deletion was maternal in 36 of 64 patients (56.3%) paternal in 28 of 64 patients (43.7%). The deletion size was 1.55 Mb in 57 of 64 patients (89.1%) and 1.84 Mb in 7 of 64 patients (10.9%). The results were concordant using both techniques, except for four patients whose microsatellite markers were uninformative. There were no clinical differences in relation to either the size or parental origin of the deletion. Conclusion MLPA was considered a faster and more economical method in a single assay, whereas the microsatellite markers could determine both the size and parental origin of the deletion in WBS. The microsatellite marker and MLPA techniques are effective in deletion detection in WBS, and both methods provide a useful diagnostic strategy mainly for developing countries.

Dosis génica y lenguaje : a propósito de la región cromosómica 7q11.23.

Resumen basado en el de la publicación. Resumen en inglés

La música, el oído y el cerebro.

Resumen tomado de la revista. La publicación recoge resumen en Inglés

Book review: ‘Cornea. Color Atlas & Synopsis of Clinical Ophthalmology. Wills Eye Institute’, by C.J. Rapuano. Wolters Kluwer/Lippincott Williams & Wilkins, Philadelphia 2012

This book is one in a series of seven atlases covering the ophthalmic sub-specialties: cornea, retina, glaucoma, oculoplastics, neuro-ophthalmology, uveitis and paediatrics. The author of Cornea and editor of the series is Christopher Rapuano, Attending Surgeon and Director of the Cornea Service at Wills Eye Hospital in Philadelphia, Pennsylvania, USA. In the introduction to the book, Rapuano states ‘The goal of this series is to provide an up-to-date clinical overview of the major areas of ophthalmology for students, residents and practitioners in all the healthcare professions’...

Book Review : "Statutory Will Applications : A practical Guide by Richard Williams and Sam McCullough"

The jurisdiction of Australian courts to make wills for those lacking testamentary capacity is relatively new, having been granted by legislation progressively enacted across the various states and territories between 1996 and 2010. Given increasing numbers of statutory will applications since the legislative reform, and a growing body of law, the publication of the specialist work, Statutory Will Applications: A Practical Guide, by Richard Williams and Sam McCullough, is timely and valuable. This work will be of great interest to those who act for individual clients, especially wills and estates practitioners, but also personal injury practitioners acting for incapacitated persons who have been awarded substantial damages.

Book Review : "Statutory will Applications in Australia : A Practical Guide by Richard Williams & Sam McCullough"

Although UK courts have, for many years, had power to make wills for those lacking testamentary capacity, this jurisdiction jurisdiction is relatively new in Australia, having been granted by legislation enacted between 1996 and 2010.

Constituting religion after Williams: The false dichotomy of theocracy and secularism

The Williams case is a relevant segue to consider the broader issue of constitutional relations between church and state in Australia. This paper argues that the dichotomous approach of theocracy as opposed to secularism is false and actually undermines the proper operation of s 116. A theocracy would contravene s 116 as an establishment of religion, but secularism also amounts to a conflict with s 116 as prohibiting the free exercise of religion. The necessary alternative is to find a middle ground compatible with s 116, one which will not establish any single state religion but will allow the contribution of different religious perspectives in the process of policy-making. This paper briefly considers how such an approach may be implemented.

On the Nash-Williams′ Lemma in Graph Reconstruction Theory

A generalization of Nash-Williams′ lemma is proved for the Structure of m-uniform null (m − k)-designs. It is then applied to various graph reconstruction problems. A short combinatorial proof of the edge reconstructibility of digraphs having regular underlying undirected graphs (e.g., tournaments) is given. A type of Nash-Williams′ lemma is conjectured for the vertex reconstruction problem.

Implementación de HyD [Hidroxicolecalciferol (25-OH-D3)] en la dieta de pollos de engorde como profilaxis de osteopatías, enfatizando en el sindrome del hueso negro, Granja Trinidad-1, Tip Top industrial

El objetivo del experimento fue evaluar el efecto del Hidroxicolecalciferol [HyD (25 –OH- D3)] en pollos de engorde, atraves de porcentajes de ceniza, calcio, fosforo y diagnostico de síndrome de hueso negro, se evaluaron dos tratamientos ( HyD y Testigo) con seis repeticiones para cada uno en dos tiempos a los 21 y 35 días de edad en análisis de ceniza, calcio y fosforo para lo cual se extrajo una tibia por pollo, dichos análisis resultaron con diferencias no significativas en ambas edades, las evaluaciones dieron como resultado que de los 21 día a los 35 días disminuyen su valor, ceniza baja de 43.8% a 36.8% en el testigo y de 42.4% a 37.7% en HyD, calcio de 15.6% a 13.4% para el testigo y de 16% a 14.5% para HyD de igual manera para los porcentaje de fosforo de 21 a 35 días con 7.6% a 6.5% para testigo y 7.5% a 6.7% para HyD. A los 35 días los resultados son mayores en el grupo HyD, 37.7% HyD,36.8% testigo en ceniza, calcio 14.5% HyD, testigo 13.4% y fosforo 6.7% HyD , 6.5% para testigo, las diferencias de 21 a 35 días son notorias y conservan la parte proporcional en que los porcentajes estan en ceniza calcio y fosforo, pero estas disminuyen para una misma variable de los 21 días de edad a los 35, sin encontrar diferencia significativas. A los 35 días se realizo análisis de síndrome de hueso negro con un total de 22 repeticiones por tratamiento, la extracción de dicha muestra (tibia) se realizo en planta de proceso, el análisis determino diferencias entre las aves muestreadas dando los mejores resultados aquellas que fueron alimentadas con Hidroxicolecalciferol [HyD (25 –OH- D3)], se observo en los resultados que en el grupo con HyD alcanzo un 91% de individuos sanos superando significativamente al testigo que solo llego a un 77% de individuos sanos, empleando un grado de libertad y 0.05 de significancia, lo que indica diminución de la presencia del síndrome de hueso negro, producto del HyD, empleando la línea genética Cobb 500, y alimentando los pollos del día cero al día 21 con diferencias de tratamiento e igual alimento del día 22 al día 35.