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J L Giniès

Publications and source records attributed to J L Giniès.

15 recordsLinked to original sources
PubMed2005

[Antineutrophil cytoplasmic antibodies in cystic fibrosis. Frequency and significance].

UNLABELLED: Some immune system abnormalities have been reported in cystic fibrosis, particularly the presence of antineutrophil cytoplasmic antibodies (ANCAs). The purpose of this study was to determine the frequency of these antibodies in a population of patients with cystic fibrosis and to assess their relationship with the disease progression. POPULATION AND METHODS: This retrospective study looked for the presence of these antibodies in sera from 64 patients (30 boys and 34 girls) aged one to 29 years. All patients were followed up within the Cystic Fibrosis Center of the University Hospital of Angers. The serum samples were collected in 2001 during the yearly check-up to evaluate disease status. RESULTS: Seven of the 64 patients presented the antibodies. Univariate analysis showed that these patients were significantly older and more often chronically infected with Pseudomonas aeruginosa than the other patients. They also scored significantly more poorly on pulmonary radiography and showed significantly higher IgG and CRP. Multivariate analysis revealed that the two following independent factors were associated with the presence of ANCAs: chronic P. aeruginosa infection and high IgG level. CONCLUSION: This work confirms the abnormally high frequency of antineutrophil cytoplasmic antibodies in patients with cystic fibrosis. These antibodies were observed in the sickest patients with severe infection status. They reflect the impact of inflammatory processes in the pathogenesis of the disease. Detection of these antibodies might be an indication for intensified treatment of bronchial infections.

Adolescent↗
PubMed2004

[Mitochondrial cytopathy: an unusual infantile cause of total villous atrophy].

Villous atrophy in an infant immediately suggests food intolerance. We report a case with an unusual cause. This female infant was first examined at 5 months for anorexia and failure to thrive. Intestinal biopsy showed total villous atrophy. A diet excluding gluten and cow milk proteins failed to improve her condition and the infant was hospitalized at 7 months for further investigations. The infant was hypotonic with a head lag. No other clinical sign was noted. Serum transaminases were increased 5- to 10-fold and CSF proteins concentration was increased. Metabolic investigations revealed hyperlactacidaemia and an increased lactate/pyruvate ratio during fasting and feeding, suggesting a mitochondrial cytopathy. Respiratory chain enzymatic activity measurements confirmed the diagnosis and showed severely decreased activities of complexes I, III and IV in both the liver and muscle. Molecular analysis demonstrated depletion of mitochondrial DNA in the liver (75%) and in muscle (97%). The infant was discharged under continuous enteral nutrition. Improvement was of short duration and the infant died at 1 year of age of massive hepatic failure. This is the first report of a mitochondrial DNA depletion with total villous atrophy and malabsorption as early clinical onset. A mitochondrial cytopathy should be considered in such conditions when food exclusion diets fail.

Atrophy↗
PubMed2004

[Benzodiazepine poisoning in a neonate: clinical and toxicokinetic evaluation following enterodialysis with activated charcoal].

CASE REPORT: A pregnant woman who was a regular user of anxiolytics was admitted to the maternity ward at 38 weeks and 4 days amenorrhea after a massive overdose of clorazepate dipotassium, a benzodiazepine. The exact quantity ingested was undetermined. The infant, born at 39 weeks, presented no spontaneous breathing and tracheal intubation was necessary in the delivery room. The neonatal blood concentrations of the clorazepate metabolites were very high at delivery (26 mg/l nordiazepam and 3.5 mg/l oxazepam) and showed little change over the next 5 days (16 mg/l nordiazepam and 2.1 mg/l oxazepam, with an apparent half-life of 168 h for nordiazepam and 160 h for oxazepam). By day 6, the infant was still dependent on ventilator support and enterodialysis was begun with repeated doses of activated charcoal (1 g/kg every 6 h by gastric tube). Treatment was continued for 5 days and a spectacular diminution in the serum concentrations of the two metabolites was noted on day 11: 1.5 mg/l nordiazepam and less than 0.1 mg/l oxazepam. The nordiazepam and oxazepam half-lifes were reduced to 42 h and 30 h respectively. The concomitant clinical improvement authorized the weaning from ventilation on day 12. CONCLUSION: This is the first report of the use of enterodialysis to treat severe benzodiazepine poisoning in a neonate. Depuration of the toxin was accelerated and the duration of intensive care was shortened thanks to this technique.

Adult↗
PubMed2004

[Effect of oral biphosphonates in patients with cystic fibrosis and low bone mineral density].

UNLABELLED: Disturbances in bone mineralization are frequent in cystic fibrosis but few studies have focused on the use of biphosphonates in this indication, and none on the use of oral etidronate. We report our experience using this latter treatment. METHODS: The study was retrospective and included five children and three adults with cystic fibrosis (six males and two females) aged seven to 30 years with Z-scores for lumbar bone density lower than -2 SD after one year of calcium (1 g/day) and vitamin D (900 UI/day and 300,000 UI/6 months) supplementation. All were treated during one year with etidronate: four courses of 15 days (one course per trimester) with doses ranging from 4 to 8 mg/kg per day. Calcium and vitamin D supplementation was continued between the etidronate treatment course. Total body and lumbar bone mineral density (BMD) were measured three times: at the beginning and the end of the year of calcium and vitamin D supplementation and at the end of the year of supplementation plus the four courses of etidronate treatment. RESULTS: The increase in BMD in absolute value (g/cm2) and in Z-score was significantly higher (P <0.05) after the year of combined supplementation and etidronate treatment (total body g/cm2: 3+/-1%, Z-score: 2+/-1% and lumbar spine g/cm2: 6+/-5%, Z-score: 3+/-4%) than after supplementation alone (total body g/cm2: -1+/-3%, Z-score: -4+/-3% and lumbar spine g/cm2: -1+/-3%, Z-score: -4+/-4%). Supplementation alone improved the total BMD in only one patient and the lumbar BMD in three, whereas after etidronate treatment the total and lumbar BMD were improved in the eight patients. None of the patients presented with side effects that could be attributed to the treatment. CONCLUSION: Oral etidronate treatment is well-tolerated and capable of improving bone mineralization in patients with cystic fibrosis. Further work will be necessary to determine the optimal dosage and the optimal frequency for the treatment series.

Adult↗
PubMed2000

[Effectiveness and dangers of interferon-alpha in the treatment of severe hemangiomas in infants].

UNLABELLED: Alarming hemangiomas, due to their site or repercussions, require pharmacological treatment. Corticosteroid therapy is indicated by first intention. In the event of failure, interferon alpha is proposed. CASE REPORTS: Case 1. A five-week-old infant was admitted to hospital for an extensive hemangioma of the left side of the face and neck with necrosis of the upper lip and ear. Prednisolone (2 mg/kg/day) by intravenous route brought about no improvement. Interferon alpha 2a (3 MU/m2/day of Referon by subcutaneous injection) enabled regression of lesions from the sixth month of treatment. After 11 months of treatment, the hemangioma had all but disappeared and interferon therapy was stopped. Repair surgery was planned at 24 months of age. Case 2. A one-month-old infant suffered from a hemangioma of the right side of the face with orbital invasion and risk of amblyopia. Prednisone (2 mg/kg/day) by oral route was ineffective. Interferon alpha 2a enabled regression of the hemangioma and the eye opened from the third month of treatment. Interferon therapy was stopped after 14 months. Initial repair surgery intervention was possible at two years of age. Spastic paraplegia was diagnosed at 18 months of age. The brain and medullar magnetic resonance imaging was normal. No etiology could explain the neurological attack. The possible toxic effect of interferon alpha is discussed. CONCLUSION: Interferon alpha is an effective treatment for hemangiomas. It significantly reduces spontaneous regression time. The uncertainty of long-term effects in infants with hemangiomas incites its indication to be limited to alarming corticosteroid-resistant forms and necessitates prolonged neurological surveillance.

Amblyopia↗
PubMed1996

A curable cause of chronic idiopathic intestinal pseudo-obstruction in children: idiopathic myositis of the small intestine.

We report an intestinal pseudo-obstruction syndrome occurring in a 6-month-old infant girl suffering from acquired major and persistent abdominal distension, which 2 months later required ileostomy. Histologic examination of samples of the small intestine showed considerable inflammatory reaction in the muscular layers of the intestinal wall. Steroid therapy, begun as soon as the histologic results were known, resulted in recovery. In a similar case, reported previously, steroid therapy used after the lesions had already caused fibrosis and atrophy of the intestinal wall, proved ineffective. This particular form of pseudo-obstruction is classified as "idiopathic myositis of the small intestine." It is important to identify the condition because an early course of steroid therapy, before the appearance of fibrotic lesions, could improve the prognosis.

Female↗
PubMed1993

[Hypothalamic syndromes. Review of clinical and endocrinal semiology].

A case of hypothalamic dysfunction in a girl with a twelve-year follow-up is reported. Onset occurred at the age of three with severe obesity, hypothermia, hypersomnia, and lethargy. Somatotropic, gonadotropic, and thyrotropic hormones were low, whereas prolactin was increased. Imaging techniques failed to disclose any lesion of the hypothalamus or pituitary. Clomipramine improved the vegetative disorders. The literature on clinical and hormonal disorders of hypothalamic dysfunction is reviewed.

Child, Preschool↗
PubMed1992

[Insulin-like growth factor I (somatomedin C) in premature infants on total parenteral nutrition. Relations with nutritional status and protein-energy intakes].

Insulin-like growth factor I (IGF I) is like prealbumin and transferrin a marker of nutritional status. Its level increases with gestational age. The levels of IGF I (96 times), transferrin (86 times) and prealbumin (69 times) were measured in blood samples from 26 premature infants aged 8 to 78 days (gestational age: 28 to 34 weeks, birth weight: 840 to 1,800 g). At the time of sampling, all the infants were on total parenteral nutrition (360 +/- 42 kJ/kg/day and 2.5 +/- 0.3 g of proteins/kg/day). The results were analysed with reference to anthropometric parameters (weight, height, head circumference, skinfolds and arm circumference). There was no correlation between plasma IGF I and anthropometric measurements. There were significant correlations between IGF I and transferrin (p less than 0.01), prealbumin (p less than 0.05), protein intake (p less than 0.01) an energy intake (p less than 0.05). Plasma IGF I increased at the end of the first week of parenteral nutrition in all the 5 infants having initial low values. The plasma IGF I was not correlated with the duration of parenteral nutrition in the 26 infants after the second week of nutrition. IGF I measurement is useful for evaluating the protein nutritional status of premature infants on total parenteral nutrition.

Energy Intake↗
PubMed1986

[Mediastinal pseudocyst in hereditary pancreatitis].

A 6 year-old child was hospitalized for thoracoabdominal pain. There was a clinical and radiological right pleural effusion. Ultrasonography showed a pseudocyst of the head of the pancreas. CAT scan and operative opacification showed a mediastinal extension of the pseudocyst, with no communication with the pleural effusion. This pseudocyst illustrates an unusual variation of a known complication of this disease. Recovery was obtained via fistulization into the jejunum.

Child↗
PubMed1982

[Compensatory growth in children nourished artificially].

The features of catch-up growth were studied, with the aid of anthropometric measurements, in 59 malnourished children, under continuous enteral or parenteral nutrition. Normal weight was reached after 4 months and normal height after 10 months. Protein compartment was normalized after 4 months; so was the fat tissue compartment, for which, however, further increase occurred up to the 6th month. This evolutive profile, observed under artificial nutrition, does not differ from the catch-up observed under spontaneous oral feeding. The excess in fatty mass partially accounts for the high energetic cost, half reduced however in artificial feeding. The authors emphasize the risk of excessive energetic intake in artificial feeding and underline the importance of anthropometric monitoring of the lean body in the modulation of the intake.

Adolescent↗