Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans.

Context: Heterozygous GNAS inactivating mutations are known to induce pseudohypoparathyroidism type 1a when maternally inherited and pseudopseudohypoparathyroidism when paternally inherited. Progressive osseous heteroplasia (POH) is a rare disease of ectopic bone formation, and studies in different families have shown that POH is also caused by paternally inherited GNAS mutations.

Objective: Our purpose was to characterize parental origin of the mutated allele in de novo cases of POH and to draw phenotype/genotype correlations according to maternal or paternal transmission of a same GNAS mutation.

[Biphosphonates and osteogenesis imperfecta in children].

Used for more than 10 years in addition to physiotherapy, orthopaedic surgery and rehabilitation, biphosphonate therapy has transformed the management of children with severe or moderate form of osteogenesis imperfecta. The authors of this article report indications, administration's way, duration and safety of biphosphonate therapy with uncertainties about persistence in skeleton for many years.

A novel Asp344Val substitution in the fibrinogen gamma chain (fibrinogen Caen) causes dysfibrinogenemia associated with thrombosis.

A 5-year-old boy was hospitalized for acute appendicitis. Routine preoperative hemostasis screening resulted in a diagnosis of dysfibrinogenemia. Fifteen days after the operation the patient was re-hospitalized for deep vein thrombosis.

Efficacy of etanercept for the treatment of juvenile idiopathic arthritis according to the onset type.

Objective: To assess the efficacy of etanercept in patients with juvenile idiopathic arthritis (JIA), and to assess the tolerance of these patients to etanercept.

Methods: All JIA patients with active chronic polyarthritis, who were first treated with etanercept between November 1999 and June 2001 in 18 French centers because of poor response or intolerance to methotrexate, were included in this open-label, prospective, multicenter study. A standardized questionnaire was sent to the treating physicians.

The French version of the Childhood Health Assessment Questionnaire (CHAQ) and the Child Health Questionnaire (CHQ).

We report the results of the cross-cultural adaptation and validation into the French language of two health status instruments. The Childhood Health Assessment Questionnaire (CHAQ) is a disease specific instrument that measures functional ability in daily living activities in children with juvenile idiopathic arthritis (JIA). The Child Health Questionnaire (CHQ) is a generic health related quality of life instrument designed to capture the physical and psychosocial well-being of children independently from the underlying disease.

[A severe form of vitamin D deficiency with hypocalcemic cardiomyopathy].

The authors report on a case of cardiomyopathy with congestive heart failure in an infant with severe hypocalcemia related to vitamin D deficient rickets. The heart failure was successfully treated with calcium gluconate and vitamin D, associated with dobutamide.

[Trial of initial non surgical treatment of subdural empyema].

The authors report on an 8-year-old girl who experienced bilateral subdural frontoparietal and interhemispheric empyema following sinusitis. The child improved after initial treatment with a 3 weeks course of parenteral antibiotics. Surgical drainage was further required because of clinical aggravation; however, this evolution was related to bilateral frontoparietal brain edema and abscesses fluid was sterile.