[A new case of rare erythrocytosis due to EGLN1 mutation with review of the literature]. / Polyglobulie rare par mutation du gène EGLN1 : à propos d'un cas et revue de la littérature.

INTRODUCTION: The origin of polycythemia is often simple to detect. Sometimes it is necessary to look for hereditary forms, the decisive parameters being the dosage of erythropoietin and the measurement of the oxygen dissociation curve (P50). These rare diseases are related to high oxygen-affinity haemoglobins, abnormalities of the erythropoietin receptor or dysfunction of the HIF (hypoxia-inducible factor) pathway. CASE REPORT: We report the case of a 56-year-old patient with unexplained polycythemia associated with normal serum erythropoietin and normal P50, in whom the never previously described mutation c.400C>T(p.Gln134*) on exon 1 in the EGLN1 gene (encoding PHD2) was found. CONCLUSION: In the face of an unexplained polycythemia a good cooperation between clinicians and biologists is necessary to be able to characterize rare hereditary pathologies.

Effect of positioning on the incidence of abnormalities of muscle tone in low-risk, preterm infants.

UNLABELLED: BACKGROUND. The preterm infant is subject to the force of gravity: when its body lies pressed against the mattress on which it is placed. AIMS: The purpose of this study was to investigate short-term effects of varied post-natal lying positions in order to prevent neuromuscular and postural abnormalities. METHODS: 60 low risk preterm infants of 31-36 weeks gestational age were enrolled for this randomised clinical trial. Initially each child underwent neurological and psychomotor assessments which included tonus and reflex protocols as well as behavioral, sensory motor and postural examinations. The lying positions of the treated group were varied (back, prone, and side) using a specially designed moldable mattress that maintained the functional position of the infant's body. The control group was placed on their stomachs, (the standard lying position used in 1994) with a standard orthopaedic bolster support under their hips. All infants underwent a second round of examinations upon discharge to assess any changes in neurological and psychomotor outcomes. RESULTS: The sensory-motor skills examinations showed significant abnormalities in the control group: (1) dominance of the extensor muscles due to muscle shortening, (2) hyper abduction and flexion of the arms, and (3) global neuromuscular rigidity. Psychomotor and neurological exams of the control and treatment groups showed delayed developmental muscular acquisitions for infants in the control group. CONCLUSION: Regular changes in posture, while retaining correct functional positions, allowed maintenance of normal neuromuscular and osteo-articular function and permitted the development of spontaneous and functional motor activity in low-risk perterm infants.

[Applications of the urocytogram in primary-secondary amenorrhea in adolescents]. / Applications de l'urocytogramme dans les aménorrhées primo-secondaires chez les adolescentes.

In the urinary sediment, the cellular material mainly originates from cells of the bladdertrigone. These cells are submitted to hormonal stimulation and their study constitutes the base of a cytological method called "urocytogram". The urinary sediment was examined in thirty-five young girls with backward puberty. The repeated examinations contribute to differential diagnosis and help in etiologic diagnosis. Whenever it is necessary to investigate adolescent's sex hormones, an urocytogram, a simple and painless method, is indicated.