cystic fibrosis/癲癇性発作

Satisfactory treatment of patients with Dravet syndrome (DS) is often difficult. Some success can be achieved with bromides, but cognitive side effects and disturbed vigilance may limit their use. Here, we present the case of a successfully treated patient with DS and remarkable features in the

Report on two babies, 5 and 6 months old with severe salt depletion were admitted to our hospital with fever and gastro-enteritis. One of them failed to thrive despite normal nutrition, the other one had a protracted gastro-enteritis. Both of them had a great loss of weight, a strong dehydration and

Exercised-associated muscle cramp (EAMC) is a common occurrence in sports medicine. We highlight a 17-year-old male high-school football player with a history of cystic fibrosis and hyponatremic seizure, who presented for recurrent EAMC. After establishing an appropriate electrolyte replacement and

Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Most diagnoses of CF are made during infancy or childhood, and are based on respiratory or digestive involvement. Initial extracellular dehydration leading to the diagnosis of CF is

Transplantation for end-stage respiratory failure in cystic fibrosis (CF), with encouraging medium-term results, is now possible. This paper details the postoperative medical treatment required by these patients. The management of 79 patients who underwent heart-lung transplantation is described.

OBJECTIVE It is unclear why some children with falciparum malaria develop acute seizures and what determines the phenotype of seizures. We sought to determine if polymorphisms of malaria candidate genes are associated with acute seizures. METHODS Logistic regression was used to investigate genetic

A 15-year-old female with carbamyl phosphate synthetase deficiency, cystic fibrosis, and cystic fibrosis-related diabetes underwent orthotopic cadaveric liver transplantation. Metabolic control was maintained during the procedure with nutritional support and the use of intravenous sodium

During a three-month period, 15 patients under two years of age presented with serum sodium concentrations less than 127 mEq/L. Seven (47%) of these patients presented with seizures. Hyponatremia accounted for a majority (58%) of the afebrile seizures in children under two years during this period.

Lung transplantation is currently the most effective means of improving survival and quality of life in patients with end-stage cystic fibrosis. In reviewing our 6-year experience we sought to evaluate complications and survival after sequential bilateral lung transplantation. Between October 1996

Central nervous system (CNS) complications occur more frequently in cystic fibrosis (CF) patients than other lung transplant recipients. The purpose of this study was to compare CF patients with and without CNS complications following lung transplantation, to identify risk factors for CNS events.

BACKGROUND Hypomagnesaemia in patients with cystic fibrosis (CF) is under-recognized although the true incidence is unknown. Many patients are asymptomatic, although severe deficiency may be associated with muscle weakness, cramps and tetany. Hypomagnesaemia may be a risk factor for post-transplant