40 research outputs found

    SYNDROME DE LA FENTE MEDIANE A PROPOS D’UN CAS

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    The median cleft syndrome is a complex facial dysmorphism. it may be associated with other malformations incompatible to life. Prenatal diagnosis is of major interest to prepare parents and to accept the child's disability. Through an observation collected in pediatric ophthalmology department, we present the characteristics of this disease. This is an infant of 5 months, the sole of his family,from a non-consanguineous marriage and consults for a facial dysmorphism. The ophthalmology test note a cyst dermoid bilateral interest blade, the conjunctiva, 2 / 3 of the cornea uncomfortable viewing eyes. The CT cranio-orbital showed a hypoplastic orbits with cerebral atrophy. The heart-ultrasound showed a perished ventricular , restrictive intercomminication. The caryotype study was normal. The ophthalmological treatement consisted to a surgical cure of both dermoid cysts. We discuss the clinical et paraclinical, etiopathogenic aspects of the slots medians and we stress the importance of antenatal diagnosis of this condition.Le syndrome de la fente mĂ©diane est une dysmorphie faciale complexe pouvant rentrer dans un cadre polymalformatif incompatible avec la vie. Le diagnostic antĂ©natal revĂȘt un intĂ©rĂȘt majeur pour prĂ©parer les parents et l’entourage Ă  l’accueil de l’enfant et son handicap. À travers une observation colligĂ©e au service d’ophtalmologie pĂ©diatrique, nous prĂ©sentons les caractĂ©ristiques de cette affection. Il s’agit d’un nourrisson de 5 mois unique de sa famille, issu d’un mariage non consanguin et consultant pour une dysmorphie faciale. L’examen ophtalmologique a notĂ© un kyste dermoĂŻde bilatĂ©rale intĂ©ressant le limbe, la conjonctive, les 2/3 de la cornĂ©e gĂȘnant la visualisation des yeux. Le bilan malformatif a montrĂ© Ă  la TDM cranio-orbitaire une hypoplasie des orbites avec atrophie cĂ©rĂ©brale. L’écho-coeur a montrĂ© une communication inter ventriculaire pĂ©ri membraneuse restrictive. L’étude du caryotype Ă©tait normale. La prise en charge ophtalmologique a consistĂ© en une cure chirurgicale des deux kystes dermoĂŻdes. Nous discutons les aspects cliniques, para cliniques, Ă©tiopathogĂ©niques des fentes mĂ©dianes et nous insistons sur l’importance du diagnostic antĂ©natale de cette affection

    Manifestations ophtalmologiques du lupus chez l’enfant

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    Le lupus  Ă  dĂ©but pĂ©diatrique est une maladie souvent sĂ©vĂšre, dont la morbiditĂ© Ă  long terme est importante. Ses manifestations ophtalmologiques sont variĂ©es et peuvent ĂȘtre rĂ©vĂ©latrices.  Elles sont  reprĂ©sentĂ©es par les nodules cotonneux avec ou sans hĂ©morragies intra rĂ©tiniennes. Les auteurs rapportent l'observation d'un enfant  ayant un lupus Ă©rythĂ©mateux dissĂ©minĂ© qui a prĂ©sentĂ© une vascularite  rĂ©tinienne

    Hydatic Cyst of Brachialis Anterior Muscle: A Case Report

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    Musculoskeletal hydatid cysts are extremely rare and usually result from the spread of cysts from other areas of hydatidosis in the body. We present an unusual case of a primary hydatid cyst of the brachialis anterior muscle in a 30-year-old man, presenting as an enlarging soft-tissue tumour. Magnetic resonance imaging examinations revealed a bilocular cyst mass. The entire cyst was surgically removed, and histopathological examinations confirmed the diagnosis of hydatid cyst. Antihelminthic chemotherapy was given for six weeks. There has been no recurrence two years after surgery. To our knowledge, the brachialis anterior muscle is an unusual location of muscular hydatic cyst. The diagnosis must be kept in mind as well as other soft tissue tumours. Keywords: hydatid cyst, muscle, armNigerian Journal of Orthopaedics and Trauma Vol. 7 (1) 2008 pp. 24-2

    Antagonistic regulation of ROMK by long and kidney-specific WNK1 isoforms

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    WNK kinases are serine-threonine kinases with an atypical placement of the catalytic lysine. Intronic deletions with increased expression of a ubiquitous long WNK1 transcript cause pseudohypoaldosteronism type 2 (PHA II), characterized by hypertension and hyperkalemia. Here, we report that long WNK1 inhibited ROMK1 by stimulating its endocytosis. Inhibition of ROMK by long WNK1 was synergistic with, but not dependent on, WNK4. A smaller transcript of WNK1 lacking the N-terminal 1-437 amino acids is expressed highly in the kidney. Whether expression of the KS-WNK1 (kidney-specific, KS) is altered in PHA II is not known. We found that KS-WNK1 did not inhibit ROMK1 but reversed the inhibition of ROMK1 caused by long WNK1. Consistent with the lack of inhibition by KS-WNK1, we found that amino acids 1-491 of the long WNK1 were sufficient for inhibiting ROMK. Dietary K(+) restriction decreases ROMK abundance in the renal cortical-collecting ducts by stimulating endocytosis, an adaptative response important for conservation of K(+) during K(+) deficiency. We found that K(+) restriction in rats increased whole-kidney transcript of long WNK1 while decreasing that of KS-WNK1. Thus, KS-WNK1 is a physiological antagonist of long WNK1. Hyperkalemia in PHA II patients with PHA II mutations may be caused, at least partially, by increased expression of long WNK1 with or without decreased expression of KS-WNK1
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