Management of a Rare Disease Population: A Model for Identifying a Patient Population With Tuberous Sclerosis Complex.
نویسندگان
چکیده
Tuberous sclerosis complex (TSC) is a rare genetic disorder affecting the brain and other vital organs with varying symptoms and severity among patients. This study developed and validated a risk model to identify patients with TSC using large databases of medical and pharmacy claims.
منابع مشابه
The prevalence of pica in tuberous sclerosis complex
BACKGROUND Pica and Tuberous sclerosis complex (TSC) are rare disorders. We carried out a population survey of pica in our TSC patient population. FINDINGS Pica was identified in four percent of cases of TSC. It was associated with adult onset or persistence into adulthood, epilepsy, severe learning difficulties and anaemia. CONCLUSIONS Pica in TSC is a rare disorder and a coherent history ...
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Background Tuberous Sclerosis Complex (TSC), and Spinal Muscular Atrophy (SMA) are two inherited disorders while they are genetically independent. TSC is characterized by the formation of multiple hamartomas in nearly all organs. SMA is a destructive neurological disorder leading to progressive muscular weakness and atrophy. Case Presentation</e...
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ABSTRACT Tuberous Sclerosis(T.S) is an inherited disease (with autosomal dominant trait). It is characterised by different skin manifestations involvement of central nervous system and hamartomas in different organs of the body .Of Course ,about 10% of cases are due to new mutations Presentation of this patient, a 4-month-old male infant with recurrent convulsions cflexor type infantile spasm ...
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Cardiac rhabdomyomas are the most common primary cardiac tumors in children. These tumors are generally asymptomatic, although they may be associated with neonatal tuberous sclerosis complex. Despite the fact that thyroid dysfunction rarely occurs in tuberous sclerosis, papillary adenomas (hamartomas) of the thyroid gland have been reported in a number of autopsies. Herein, we present the case ...
متن کاملTuberous sclerosis with Cardiac Tumor in fetus with Diabetic Mother
Introduction A heart tumor in children is rare and the most primary tumor of the heart is rhabdomyoma. We report a case of cardiac mass diagnosed at 32th weeks of pregnancy while the mother had gestational diabetes Mellitus. Serial echocardiography revealed regression of the tumor; then follow up of the patient confirmed tuberous sclerosis.
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عنوان ژورنال:
- Managed care
دوره 26 8 شماره
صفحات -
تاریخ انتشار 2017