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Journal Of The Two Sisters Pdf Downloadl
The therapeutic dose of levocarnitine should beadjusted according to alterations in its concentration in the bloodof individual patients, as well as the blood alkalinity and thedegree of the disease in order to maintain the stability of thetissues and blood. A high dose levocarnitine treatment may causediarrhea, nausea and other gastrointestinal discomforts; however,the dose can be reduced and once the adverse reactions haveimproved, it can be gradually increased to the initial treatmentdose (20). Patients with PCDrequire a lifelong treatment with levocarnitine, and a suddenwithdrawal may result in a rapid drop in the plasma carnitineconcentration, causing recurrent Reye syndrome and even suddendeath (21). For asymptomaticpatients with PCD, treatment with levocarnitine has been indicatedto be effective in preventing morbidity and sudden death (22). In the present case report, althoughthe two sisters with PCD exhibited a homozygous mutation in SLC22A5[c.760 C>T (p.R254X)], their clinical manifestations varied.Following treatment of the proband with levocarnitine and internalmedical therapies (including antiepileptic therapy andrehabilitation), the serum free carnitine levels were restored tonormal levels, but the clinical symptoms recovered slowly, andsequelae in the nervous system remained. A 3-year pilot study inthe Zhejiang province in China has suggested that mentalretardation and motor delay were difficult to reverse in themajority of symptomatic patients with PCD following a latediagnosis (23). In the presentstudy, although the older sister of the proband exhibited cardiaccomplications, following oral administration of levocarnitine, theclinical symptoms improved rapidly. It has been reported that oralcarnitine supplementation in infants with PCD-relatedcardiomyopathy result in improved clinical outcomes with theejection fraction reaching 75% following 3-month treatment(24,25). Previous reports have also suggestedthat excising the severely diseased lateral brain may be used totreat refractory epilepsy, with epilepsy and functional outcomesbeing improved following surgery (26-28),which was in agreement with the treatment results observed in theproband in the present case report.
The Journal of Neurology is an international peer-reviewed English-language journal which publishes on all aspects of clinical neurology from diagnosis to treatment. Founded in 1891, Journal of Neurology has reliably published excellent research in Neurology for over 130 years. The journal publishes Original Communications, Reviews, Commentaries, Letters to the Editor and Pioneers in Neurology as well as the invited Neurological Updates and Journal Clubs. 2ff7e9595c
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