ABSTRACT
OBJECTIVE: Ketogenic diet is the first line therapy for neurological symptoms associated with pyruvate dehydrogenase deficiency (PDHD) and intractable seizures in a number of disorders, including GLUT1 deficiency syndrome (GLUT1-DS). Because high-fat diet raises serious compliance issues, we investigated if oral L,D-3-hydroxybutyrate administration could be as effective as ketogenic diet in PDHD and GLUT1-DS. METHODS: We designed a partial or total progressive substitution of KD with L,D-3-hydroxybutyrate in three GLUT1-DS and two PDHD patients. RESULTS: In GLUT1-DS patients, we observed clinical deterioration including increased frequency of seizures and myoclonus. In parallel, ketone bodies in CSF decreased after introducing 3-hydroxybutyrate. By contrast, two patients with PDHD showed clinical improvement as dystonic crises and fatigability decreased under basal metabolic conditions. In one of the two PDHD children, 3-hydroxybutyrate has largely replaced the ketogenic diet, with the latter that is mostly resumed only during febrile illness. Positive direct effects on energy metabolism in PDHD patients were suggested by negative correlation between ketonemia and lactatemia (r 2 = 0.59). Moreover, in cultured PDHc-deficient fibroblasts, the increase of CO2 production after 14C-labeled 3-hydroxybutyrate supplementation was consistent with improved Krebs cycle activity. However, except in one patient, ketonemia tended to be lower with 3-hydroxybutyrate administration compared to ketogenic diet. CONCLUSION: 3-hydroxybutyrate may be an adjuvant treatment to ketogenic diet in PDHD but not in GLUT1-DS under basal metabolic conditions. Nevertheless, ketogenic diet is still necessary in PDHD patients during febrile illness.
ABSTRACT
Tick-borne encephalitis (TBE) is an arbovirus induced by tick-borne encephalitis virus (TBEV) transmitted by tick bite. The disease is rare in France (two to three cases per year) but endemic zones extend from Western Europe to the east coast of Asia (10,000-15,000 cases per year). An 8-year-old boy was admitted to our pediatric ward in Strasbourg (France) for febrile headache with diplopia. Four days after a tick bite, he declared a febrile headache together with maculopapular rash on the elbows, knees, and cheeks. Fourteen days after the outbreak of symptoms, he showed confusion, drowsiness, and binocular diplopia. Brain MRI was normal and the electroencephalogram found diffuse slow activity with no discharge. Lumbar puncture found meningitis with 92 cells (60% neutrophils, 40% lymphocytes). The diagnosis was made with specific IgM and IgG antibody isolation in the serum (Elisa). Lyme serology was negative. The evolution was slowly favorable and the child remained hospitalized for 8 days. The neurological control examination 2 weeks later was normal except for a moderate left deviation during tandem walk and left Romberg manoeuver. Meningitis or meningoencephalitis in a child must raise the diagnosis of TBE in children, even in nonendemic countries, given the recent increased incidence of TBE and the development of tourism. Recent travel in endemic areas, a history of tick bite, and a clinical course in two phases must be sought. The diagnosis is serologic and prevention is based on vaccination.
Subject(s)
Encephalitis, Tick-Borne/diagnosis , Meningoencephalitis/diagnosis , Animals , Child , France , Humans , MaleABSTRACT
The first stages of oxidation of the (1 1 0) surface of a γ-Al(4)Cu(9) complex metallic alloy were investigated by combining x-ray photoemission spectroscopy, low energy electron diffraction and scanning tunnel microscopy studies. Oxidation at room temperature in the 2 × 10(-8) to 2 × 10(-7) mbar oxygen pressure range occurs in two steps: a fast regime is followed by a much slower one, leading to the formation of a thin aluminium oxide film showing no long range order. Cu-O bonds are never observed, due to fast oxygen induced aluminium segregation. The low value of the estimated activation energy for aluminium diffusion (0.65 ± 0.12 eV at(-1)) was ascribed to the presence of two vacancies in the γ-Al(4)Cu(9) structure. Annealing at 925 K the oxide film formed at room temperature leads to the formation of small crystallized domains with a sixton structure similar to structures reported in the literature following the oxidation of Cu-9% Al(1 1 1), NiAl (1 1 0) and FeAl(1 1 0) surfaces as well as ultrathin Al films deposited onto Cu(1 1 1) or Ni(1 1 1) surfaces. Two contributions were observed in the O1s peaks, which have been ascribed to loosely bound oxygen species and oxygen belonging to the sixton structure respectively.
ABSTRACT
Life-expectancy increased in patients infected with HIV/AIDS with the advent of highly active antiretroviral therapy (ART). Facial lipoatrophy is a common complication in these patients, eventually leading to stigma, segregation and a negative impact in quality of life (QOL). We measured the impact of the treatment of facial lipoatrophy with polymethyl methacrylate (PMMA) in the QOL of patients with HIV/AIDS by using four questionnaires that address QOL. Forty consecutive patients on ART referred for facial lipoatrophy treatment were enrolled in this study. The first 20 were allocated to the intervention group and were treated with tissue augmentation with PMMA. The other 20 were allocated to the control group, which received treatment only after six months. At baseline, four questionnaires were applied to all patients in both groups and again after six months. The variation in scores within the control group for all domains of all four instruments was significantly better when compared with that within the control group. We detected improvement in the QOL of patients with HIV/AIDS and facial lipoatrophy when they were treated with PMMA.
