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1.
Acta Medica Iranica. 2011; 49 (3): 142-148
en Inglés | IMEMR | ID: emr-109575

RESUMEN

This study determines the value of linkage analysis using six RFLP markers for carrier detection and prenatal diagnosis in familial DMD/BMD cases and their family members for the first time in the Iranian population. We studied the dystrophin gene in 33 unrelated patients with clinical diagnosis of DMD or BMD. Subsequently, we determined the rate of heterozygosity for six intragenic RFLP markers in the mothers of patients with dystrophin gene deletions. Finally, we studied the efficiency of linkage analysis by using RFLP markers for carrier status detection of DMD/BMD. In 63.6% of the patients we found one or more deletions. The most common heterozygous RFLP marker with 57.1% heterozygosity was pERT87.15Taq1. More than 80% of mothers in two groups of familial or non-familial cases had at least two heterozygous markers. Family linkage analysis was informative in more than 80% of the cases, allowing for accurate carrier detection. We found that linkage analysis using these six RFLP markers for carrier detection and prenatal diagnosis is a rapid, easy, reliable, and inexpensive method, suitable for most routine diagnostic services. The heterozygosity frequency of these markers is high enough in the Iranian population to allow carrier detection and prenatal diagnosis of DMD/BMD in more than 80% of familial cases in Iran


Asunto(s)
Humanos , Portador Sano , Ligamiento Genético , Distrofina , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , ADN
2.
Iranian Journal of Pediatrics. 2008; 18 (1): 11-19
en Inglés | IMEMR | ID: emr-143509

RESUMEN

Several factors are useful in predicting the prognosis of Guillain-Barre syndrome [GBS]. The objective of this study was to determine the role of clinical presentation scaling to predict patient's short-term outcome. Forty five patients with the confirmed diagnosis of GBS, according to international diagnostic criteria, were enrolled in this study. All children who were not able to walk unaided [i.e., ordinal disability score=ODS >/= 3] were treated with intravenous immunoglobulin [IVIg] alone or with corticosteroid. The primary outcome measures were the degree of disability at discharge, length of hospital stay, need to intensive care setting and mortality. Male to female ratio was 1.05: 1 with mean age of 5.9 years. The most common manifestation was limb weakness [71.1%]. Absent or decreased deep tendon reflexes were seen in 44% and 53.3% patients, respectively. All children experienced some degree of pain, with moderate to severe intensity [pain faces score >/= 3] in 91.2% patients. Cranial nerve involvement was found in 46.7% children, most commonly as bulbar weakness [40%]. Ten [22.2%] patients were admitted in PICU, and ventilation support was needed for 2 [4.4%] of them. Clinical response was regain of unaided walking [ODS

Asunto(s)
Humanos , Masculino , Femenino , Pronóstico , Índice de Severidad de la Enfermedad , Dimensión del Dolor , Brazo , Evaluación de la Discapacidad , Niño , Resultado del Tratamiento , Tiempo de Internación , Inmunoglobulinas Intravenosas
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