[Electroencephalogram evaluation of hyperphenylalaninemia patients on dietetic treatments].

OBJECTIVE: To explore the electroencephalographic changes of patients with hyperphenylalaninemia (HPA) after dietetic treatments. METHODS: From July 2005 to February 2010, 34 HPA patients with abnormal electroencephalograms were recruited from China-Japan Friendship Hospital. Their electroencephalographic results and clinical features were compared before and after dietetic and antiepileptic treatments. There were 16 males and 18 females with an age range of 2 months to 8 years. All electroencephalographic results were abnormal. Among them, there were epileptic discharges (n = 17), atypical sharp-slow wave complex (n = 1) and slow wave background (n = 16). All patients received a low intake of phenylalanine at 13-50 mg·kg(-1)·d(-1). Twenty patients had antiepileptic drug therapy. Before and after treatment for 3 months, 6 months, 1 year and 2 years, blood phenylalanine concentration, electroencephalogram, convulsion and other clinical parameters were observed. Before and after 1 year treatment, the tests of developmental quotient (DQ) or intelligence quotient (IQ) were performed. RESULTS: The phenylalanine concentrations of the same patient group decreased significantly after 3 months, 6 months, 1 and 2 years after dietetic treatment ( (0.51 ± 0.39) , (0.50 ± 0.29), (0.59 ± 0.42), (0.53 ± 0.27) vs (1.33 ± 0.64) mmol/L, all P = 0.000). Among 19 epileptic cases, 16 ceased after treatment. And 14 stayed convulsion-free within 3 months post-treatments, 2 cases had intermittent tonic-clonic seizures while there was 1 case of focal seizures. Fourteen cases withdrew antiepileptic medications or reduced their doses. After treatment, the electroencephalographic results became totally normal in 8 of the 19 epileptic cases. Electroencephalographic results improved in 5 cases versus pre-treatment. Spikes were controlled in 10 cases including 5 patients with hyperarrhythmia in the abnormal electroencephalographic group with epilepsy. Six cases continued abnormal electroencephalogram. In the abnormal electroencephalographic group without epilepsy (n = 15) , electroencephalograms were normal (n = 3), improved (n = 6) and continued mild abnormal waves (n = 2). However, there were 4 cases with deteriorated electroencephalogram and 3 of them showed spikes. DQ (IQ) was evaluated in 16 cases. And variable mental retardation was observed in all of them. After, year treatment, 7 cases were evaluated DQ (IQ), and their results showed improved (57 ± 16 vs 50 ± 16, t = -5.42, P = 0.002). CONCLUSIONS: Etiological treatment for HPA patients is important for controlling epilepsy and improving brain function. And electroencephalogram is useful for monitoring brain functions and evaluating treatment outcomes.

[Efficacy and safety of glucocorticoids in addition to intravenous immunoglobulin in the initial treatment of Kawasaki disease: a meta-analysis of randomized trials].

OBJECTIVE: To evaluate the efficacy and safety of glucocorticoids (GC) plus intravenous immunoglobulin (IVIG) in the initial treatment of Kawasaki disease. METHODS: Fourteen electronic databases and 3 Japanese magazines were searched. Randomized controlled trials (RCT) describing the use of GC plus IVIG in the initial treatment of Kawasaki disease in children were collected. The data of methodological quality and trial information were extracted by two independent researchers. Cochrane review methodology was used for assessing the trial quality and efficacy. Each dichotomous outcome was measured in terms of odds risk (OR) while continuous outcomes shown as weighted mean differences (WMD). And a meta-analysis was made with RevMan5.0.23.0 software. RESULTS: A total of 416 cases in 3 trials were included. There were 209 cases in GC + IVIG group and 207 cases in IVIG group. The incidence of coronary artery lesion (CAL) was not different between GC + IVIG and IVIG groups within 1 month or 1 month post-treatment (OR: 0.74, 0.69; 95%CI: 0.23 - 2.40, 0.35 - 1.38; P = 0.62, 0.30]. The fever duration was shorter in GC + IVIG group than that in IVIG group (WMD: -0.93 d, 95%CI: -1.15 - -0.70, P = 0.00). The treatment failure rate was less in GC + IVIG group than IVIG group (9.09% vs 17.48%, OR: 0.49, 95%CI: 0.28 - 0.86, P = 0.01). No difference in adverse events was found between two groups (OR: 0.81, 95%CI: 0.22 - 3.03, P = 0.76). CONCLUSION: There is no evidence to support that GC plus IVIG can further reduce the CAL risk of KD patients. But it may lower the treatment failure rate in KD patients.

[Quantification of phenylalanine in the brain of patients with hyperphenylalaninemia by (1)H magnetic resonance spectroscopy].

OBJECTIVE: Hyperphenylalaninemia (HPA) is an inborn error of metabolism in which the hydroxylation of phenylalanine (Phe) to tyrosine is disturbed. Accumulation of Phe leads to severe mental and psychomotor retardation. (1)H magnetic resonance spectroscopy ((1)HMRS) is a novel non-invasive method to quantitate the brain metabolites besides Phe concentration in HPA patients. And it could be acquired conveniently on clinical MRI routine scanners. This study aimed to investigate the correlation between blood Phe ([Phe](blood)) and [Phe](brain), the characteristics of blood-brain Phe metabolism and its impacts on mental retardation. METHOD: Totally 32 untreated patients diagnosed with HPA were studied, including 18 boys and 14 girls (age ranging from 33 days to 13 years). The patients were divided into two groups: elder than 4 months old (n = 22) and younger than 4 months old (n = 10). (1)HMRS were performed in all patients. [Phe](brain) were measured by absolute [Phe](brain) using Creatinine as an internal reference. [Phe](blood) were measured and developmental quotient (DQ) or intelligence quotients (IQ) were evaluated. RESULT: (1) [Phe](brain) measured by (1)HMRS ranged from 0.0640 to 0.6296 (M = 0.1542) while the [Phe](blood) was from 0.3804 to 2.5140 mmol/L (M = 1.5210 mmol/L) in all the 32 cases of HPA patients. (2) There was a positive linear correlation (r = 0.6103 (P < 0.01)) between [Phe](blood) and [Phe](brain). And there were interindividual differences in [Phe](brain) in several patients. (3) Variable mental retardation were observed in 23/32 cases in this study. (4) There was a negative correlation between [Phe](blood) and [Phe](brain) to the mental retardation (r(blood) = -0.5045, r(brain) = -0.6471 (P < 0.01)) in 22 cases of the HPA patients older than 4 months. And [Phe](brain) had more significant correlation with mental development than [Phe](blood). CONCLUSION: The [Phe](blood) could correspondingly represent the [Phe](brain) in most HPA patients. The Phe concentration could reflect the degree of mental retardation substantially in 22 cases with HPA older than 4 months. And the [Phe](brain) could more accurately illustrate it. (1)HMRS can be used to quantitate intracerebral Phe concentrations non-invasively in HPA patients. Preliminary findings suggest that interindividual variations in the kinetics of Phe uptake and metabolism do exist. (1)HMRS has great clinical significance in understanding the mechanism of HPA patient's mental retardation, providing proper objective standards for better diagnosis and treatment of HPA patients.