Síndrome de Weill-Marchesani / Weill-Marchesani syndrome

El síndrome de Weill-Marchesani es un desorden genético poco frecuente del tejido conectivo con afectación ocular. Desde su descripción por Weill y Marchesani en 1932 y 1939, se han descrito patrones de herencia autosómica dominante y recesiva. En general estos pacientes se caracterizan por baja talla, braquidactilia con rigidez articular, microsferofaquia, miopía lenticular progresiva, luxación cristaliniana, y glaucoma secundario. Se presentan las características oftalmológicas y clínicas de una paciente a quien se le diagnosticó este síndrome genético. Procedía de una familia de 4 miembros donde uno de ellos presentaba similares características (padre), no se detectaron malformaciones cardiovasculares asociadas pero se recogen antecedentes de autoagresión. El desempeño del oftalmólogo en su diagnóstico precoz y manejo, es de vital importancia, de esta forma se podría lograr una rehabilitación visual y la consecuente incorporación a una vida socialmente útil(AU)

Weil Marchesani syndrome is a rare genetic disorder of the connective tissue with ocular effect. Since the description of this disease by Weill and Marchesani in 1932 and 1939 respectively, patterns of autosomal dominant and recessive inheritance have been outlined. In general, these patients are characterized by small size, brachydactilia, joint rigidity, microspherophakia, progressive lenticular myopia, crystalline luxation and secondary glaucoma. This paper presented the ophthalmologic and clinical characteristics of a female patient who was diagnosed with this genetic syndrome. She came from a four-member family in which one of them presented with similar characteristics (father); there were not associated cardiovascular malformations, but self-attack history was included. The ophthalmologist's performance in the early diagnosis and management of the disease is of vital importance, because in this way, visual rehabilitation could be materialized, with subsequent incorporation to socially useful life(AU)

Pharmacogenetics of parkinsonism, rigidity, rest tremor, and bradykinesia in African-Caribbean inpatients: differences in association with dopamine and serotonin receptors.

We studied the association between polymorphisms of genes coding for dopamine D(2) (DRD2), dopamine D(3) (DRD3), serotonin 2(a) (HTR2A), and serotonin 2(c) (HTR2C) receptors and Antipsychotic-Induced Parkinsonism (AIP), rigidity, bradykinesia, and rest-tremor in African-Caribbeans treated with antipsychotics. Polymorphisms of DRD2 (-141CIns/Del, TaqIA, 957C > T), DRD3 (Ser9Gly), HTR2A (-1438A > G, 102T > C, His452Tyr), and HTR2C (-759C > T, Cys23Ser) genes were determined according to standard protocols. The Unified Parkinson Disease Rating Scale was used for the measurement of AIP, rigidity, bradykinesia, and rest-tremor. Chi-squared or Fisher's exact tests were applied for the association analyses. The t-test was applied for continuous data. Ninety nine males and 27 females met the inclusion criteria (Schizophr Res 1996, 19:195). In males, but not in females, there were significant associations between -141CDel-allele carriership (DRD2) and rigidity (Fisher's Exact Test: P = 0.021) and between 23Ser-allele carriership (HTR2C) and bradykinesia (P = 0.026, chi(2) = 5.0) or AIP (P = 0.008, chi(2) = 7.1). Rest-tremor was not associated with any of the polymorphisms studied. Analyses of the age, chlorpromazine equivalents, benztropine equivalents, the number of patients using anticholinergic medication, and the utilization patterns of the antipsychotic medication did not show statistically significant differences between patients with and without AIP, rigidity, bradykinesia, rest-tremor. Conducting the analysis without gender stratification did not affect our findings considerably, except for the association between bradykinesia and 23Ser-allele which failed to reach statistical significance in the total sample (P = 0.0646, chi(2) = 3.41). Since AIPs subsymptoms (rigidity, bradykinesia, and rest-tremor) may differ pharmacogenetically, our data strongly support symptom-specific analysis of AIP. However, further research is warranted to confirm our findings.