Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe the anaesthetic management of a 20 years old female with a Friedreich's ataxia for curettage of the uterus. After the premedication with thalamonal, diazepam and atropine the anaesthesia was induced with thiopental. Isoflurane and nitrous oxide were used for maintenance. We review the literature about this disease and its implications in anaesthesia. Anesthetic hazards to the patient with Friedreich's ataxia include potential risk of cardiac dysrhythmias and heart failure and also marked sensitivity to muscle relaxants. Respiratory complications and diabetes mellitus are other main problems in postoperative period. We conclude that this patients should be careful monitored specially cardiovascular function and neuromuscular transmission during and after anaesthesia.
 ...
PMID:[Anesthetic management in a case of Friedreich's ataxia]. 268 72

A possible association between Friedreich's ataxia (FA) and neoplastic development has been recognized. FA patients have low frataxin levels and insufficient response to oxidative stress. In these patients fibroblasts are characterized by a high rate of mutations. Herein, a case of a 39-year-old woman with FA tetraplegia, who was admitted in our department with intestinal obstruction due to a huge uterine tumor, is described. An abdominal CT revealed a huge intra-abdominal mass originating from the right cornu of the uterus. Tumor excision and adhesionlysis were performed. The histological examination of the tumor revealed a leiomyoma. FA patients seem to present with a variety of neoplasms uncommon for their young age. This is the first report of a leiomyoma originating from the genital system in a female patient with FA tetraplegia. Therefore it is important to identify neoplasms at an early stage in patients with FA and start immediate therapy.
 ...
PMID:Massive Uterine Leiomyoma in a Patient with Friedreich's Ataxia: Is There a Possible Association? 2186 94