Pyridoxine-dependent epilepsy: report on three families with neuropathology.

Pyridoxine-dependent epilepsy (PDE) is a pharmacoresistant epileptogenic encephalopathy controlled by pyridoxine supplementation at pharmacological doses. Despite supplementation, the long-term outcome is often poor possibly because of recurrent seizures and developmental structural brain abnormalities. We report on five patients with PDE from three unrelated families. The diagnosis was confirmed by ALDH7A1 sequencing, which allowed for the characterization of two homozygous variations [NM_001182.3:c.1279G > C - p.(Glu427Gln) and c.834G > A - p.(Val278Val)]. Brain autopsy was conducted for one untreated patient with molecularly confirmed antiquitin deficiency. Macroscopic and histological examination revealed a combination of lesions resulting from recurrent seizures and consisting of extensive areas of cortical necrosis, gliosis, and hippocampic sclerosis. The examination also revealed developmental abnormalities including corpus callosum dysgenesis and corticospinal pathfinding anomalies. This case is the second to be reported in the literature, and our findings show evidence that antiquitin is required for normal brain development and functioning. Despite prophylactic prenatal pyridoxine supplementation during the last trimester of pregnancy in one of the three families and sustained pyridoxine treatment in three living patients, the clinical outcome remained poor with delayed acquisition of neurocognitive skills. Combined therapy (pyridoxine/arginine supplementation and lysine-restricted diet) should be considered early in the course of the disease for a better long-term outcome. Enhanced knowledge of PDE features is required to improve treatment strategies.

[Audit of sterilization practices in two Tunisian hospitals: current situation and perspectives]. / Audit des pratiques de stérilization dans deux établissements hospitaliers Tunisiens: Etat des lieux et perspectives.

BACKGROUND: In most Tunisian hospitals, medical devices (MD) are sterilized at surgical or medicine departments. AIM: to overview during one month the practice of sterilization. aterial METHODS: An audit of practices through direct observation was carried out at the neonatology and gynaecology departments at the Maternity and Neonatology Center of Tunis and the surgical department at the Salah Azaïz Institute. An assessment grid has been defined and the non-compliance rates have been calculated. A score has been drawn for four evaluation categories of MD treatment. 123 criteria were assessed. RESULTS: The level of non-compliance ranges from 53% to 62% depending on the department. Scores interpretation underlines that the present situation is behind the required level of safety. Traceability stands at the most critical position. Staff and environment safety present scores of 26/54 and 28/62 respectively for the Maternity and Neonatology Center of Tunis and the Salah Azaïz Institute. The less critical situation is that of patient safety, even if it is far below the expected level. CONCLUSION: This audit has highlighted major malfunctions in the sterilization process. This is related to the absence of a strict regulation. A corrective action plan has been implemented for the short, medium and long terms.

Effect of high calcium and phosphate concentrations on the physicochemical properties of two lipid emulsions used as total parenteral nutrition for neonates.

Premature infants require protein and energy for their growth and an adequate intake of calcium and phosphorus for their bone formation. However, several factors can affect the stability of intravenous lipid emulsions intended to be administered as neonatal total parenteral nutrition. This study evaluated the effect of additives and various concentrations of both calcium gluconate and glucose-1-phosphate on two intravenous lipid emulsions (Clinoleic 20% and Ivelip 20%) when using Primene 10% as source of amino acids and simulating clinical conditions (24-h storage at 37 degrees C). Two series of experiments for each lipid emulsion were carried out. One used separate ingredients (water, glucose, or amino acids) with various calcium phosphate concentrations; and the second included total parenteral nutrition admixtures with varied amino acid (1%, 2%, or 3.5%) and glucose (8% or 14%) concentrations. Evaluation was performed by visual and microscopic examination and pH, particle size, and zeta potential measurements. Calcium concentrations were determined before and after filtration by atomic absorption spectroscopy. Samples were stored 24 h at 37 degrees C. Investigations of lipid-nutrient admixtures showed a significant decrease of the pH with Primene and a visual instability when mixing with sterile water alone, while total parenteral nutrition admixtures made of Clinoleic 20% or Ivelip 20% were stable regarding pH, particle sizing, and zeta potential after storage conditions. Samples containing only calcium have their zeta potential charge reduced compared to samples containing both calcium and phosphate. Also, the evaluation of calcium phosphate solubility showed a significant decrease of the calcium concentration after filtration of the samples. Our data indicated that total parenteral nutrition admixtures could contribute to protect the lipid emulsion from its physicochemical degradation and that using organic phosphate with calcium gluconate has a less deleterious effect than using calcium alone with total parenteral nutrition. Also, the use of inline filters remains necessary for good protection from hazards of precipitates during the administration of total parenteral nutrition regimens.

Retinol and Alpha-tocopherol in the Colostrum of Lactating Tunisian Women Delivering Prematurely: Associations with Maternal Characteristics.

BACKGROUND: This study aims to assess vitamin A and E concentrations in the premature colostrum of lactating Tunisian women and to identify maternal characteristics that may affect these concentrations. METHODS: Human colostrum was obtained from 105 mothers who gave birth prematurely in the Centre for Maternity and Neonatology of Tunis (Tunisia). Retinol and alpha-tocopherol were analyzed in the colostrum and in plasma by high-performance liquid chromatography. RESULTS: Retinol and alpha-tocopherol concentrations were 57.5 ± 50.1 µg/dL and 1222 ± 772 µg/dL in the colostrum, respectively, and 51.7 ± 20.0 µg/dL and 1351 ± 772 µg/dL in plasma, respectively. Concentrations of each vitamin in the colostrum were positively correlated with their respective concentrations in plasma (r = 0.415, p = 0.001 for retinol and r = 0.392, p = 0.003 for alpha-tocopherol). In multivariate analysis, colostrum vitamin A was associated with plasma vitamin A and preeclampsia, while colostrum vitamin E was associated with plasma vitamin E, gestational age, and preeclampsia. CONCLUSION: In Tunisian women, colostrum vitamin A and E levels are close to the average values reported in the literature. The levels are too low to cover the needs of very low birth weight (VLBW) infants, particularly in women with plasma vitamin deficiencies, preeclampsia, or very premature delivery. Given the undeniable beneficial effects of human colostrum, whenever feasible, VLBW infants should be fed colostrum. Infant vitamin A and E requirements should be met by milk fortification or supplementation.

Nutritional practice effectiveness to achieve adequate plasma vitamin A, E and D during the early postnatal life in Tunisian very low birth weight infants.

OBJECTIVE: To look at changes in plasma vitamin A, E and D concentrations during the early postnatal life and to study their link with growth and mortality in Tunisian very low birth weight (VLBW) infants. PATIENTS AND METHODS: A cohort of 607 VLBW infants had been followed from birth until hospital discharge or death. Blood was collected at birth, at time of maximal weight loss and at time of recovering birth weight. Retinol and α-tocopherol were analyzed using HPLC and 25 hydroxy vitamin D using radioimmunoassay. RESULTS: Vitamin A, D and E deficiencies were very common at birth (75.9%, 74.1% and 65.2%, respectively). The prevalence's have decreased throughout hospital stay, but remained high at time of recovering birth weight (59.4%, 31.2% and 28.8%, respectively). Vitamin A deficiency was associated with longer hospital stay [OR (95% CI), 1.66 (1.03-2.93)] and vitamin E deficiency was associated with increased neonatal mortality [1.44 (1.01-2.23)]. CONCLUSIONS: Current nutritional practices are ineffective to achieve adequate vitamins A, E and D status in Tunisian VLBW infants during the early postnatal life and should be revised. Further work is needed to establish recommended doses of vitamins supplements in these preterm infants.

Effect of the intravenous lipid emulsions on the availability of calcium when using organic phosphate in TPN admixtures.

PURPOSE: The addition of high amounts of calcium remains a pharmaceutical concern due to its precipitation with phosphate in total parenteral nutrient (TPN) admixtures, compromising also the stability of the lipid emulsion. MATERIALS AND METHODS: Calcium-phosphate solubility was compared when using binary PN solutions versus all-in-one TPN (admixtures with lipid emulsions) in three formulas using organic calcium gluconate and glucose-1-phosphate. RESULTS: It was found that variation of Ca-P solubility exists between formulation with or without lipid emulsions. Concentrations of Ca decreased after filtrations of all admixtures (from 5% to 30%) and it was more significant in binary solutions. Precipitation has been observed by microscopy at high concentrations of both organic Ca-P after critical conditions of storage (24 h at 37 degrees C plus one day at ambient temperature) for admixtures containing 1% amino acids and 8% glucose with or without lipids compared to admixtures containing 2% or 3.5% amino acids and 14% glucose. CONCLUSIONS: These data demonstrated that availability of Ca using organic glucose-1-phosphate increased when lipids were present in TPN admixtures, without alteration of the lipid emulsion. Thus, high amounts of Ca (up to 30 mmol/l) and phosphates (up to 40 mmol/l) might be provided safely in parenteral nutrition admixtures.

Clinical and anatomic features of acardiac twins.

OBJECTIVE: To report 6 cases of acardiac twins, and to investigate prognostic factors that would lead to survival of the normal twin. SUBJECTS AND METHODS: During a 9-year period from 1993 to 2001, 6 cases of acardiac twins out of 109,000 deliveries at the Maternity Center, Tunis, Tunisia were studied. Detailed inspection, X-rays, ultrasound and autopsies were performed. RESULTS: Prenatal diagnosis was made in only 1 case at 33 weeks of gestation. Rudimentary cardiac tissue was observed in 2 of the 6 perfused twins, and the cephalic pole was less developed than other parts of the body. Severe agenesis or hypoplasia of the thoracoabdominal organs was commonly observed. Many limb malformations were observed, with arms the most affected. One of the pump twins was stillborn, 3 died between days 1 and 3 from respiratory distress, and 2 developed cardiac failure after birth and were treated with diuretics and digoxin, which led to a favorable outcome in only 1. The ratio of the weight of the acardiac to pump twin (TWR) ranged from 50 to 142%. CONCLUSION: The findings of this study indicate that acardia can be diagnosed by means of ultrasound in front of a monochorial twin pregnancy when one of the fetuses is deformed and has no cardiac activity. Heart failure and polyhydramnios, as well as a TWR greater than 50% are prognostic factors for the pump twin.