17 research outputs found

    Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations

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    Background: Raine syndrome (RS) is a rare autosomal recessive bone dysplasia typified by osteosclerosis and dysmorphic facies due to FAM20C mutations. Initially reported as lethal in infancy, survival is possible into adulthood. We describe the molecular analysis and clinical phenotypes of five individuals from two consanguineous Brazilian families with attenuated Raine Syndrome with previously unreported features. Methods: The medical and dental clinical records were reviewed. Extracted deciduous and permanent teeth as well as oral soft tissues were analysed. Whole exome sequencing was undertaken and FAM20C cDNA sequenced in family 1. Results: Family 1 included 3 siblings with hypoplastic Amelogenesis Imperfecta (AI) (inherited abnormal dental enamel formation). Mild facial dysmorphism was noted in the absence of other obvious skeletal or growth abnormalities. A mild hypophosphataemia and soft tissue ectopic mineralization were present. A homozygous FAM20C donor splice site mutation (c.784 + 5 g > c) was identified which led to abnormal cDNA sequence. Family 2 included 2 siblings with hypoplastic AI and tooth dentine abnormalities as part of a more obvious syndrome with facial dysmorphism. There was hypophosphataemia, soft tissue ectopic mineralization, but no osteosclerosis. A homozygous missense mutation in FAM20C (c.1487C > T; p.P496L) was identified. Conclusions: The clinical phenotype of non-lethal Raine Syndrome is more variable, including between affected siblings, than previously described and an adverse impact on bone growth and health may not be a prominent feature. By contrast, a profound failure of dental enamel formation leading to a distinctive hypoplastic AI in all teeth should alert clinicians to the possibility of FAM20C mutations

    Postoperative pain is undertreated: results from a local survey at Jordan University Hospital ‫األردنية‬ ‫اجلامعة‬ ‫مستشفى‬ ‫يف‬ ‫حميل‬ ‫مسح‬ ‫من‬ ‫مستمدة‬ ‫نتائج‬ ‫للجراحة:‬ ‫التايل‬ ‫األمل‬ ‫معاجلة‬ ‫يف‬ ‫النقص‬

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    ABSTRACT Postoperative pain management is nowadays considered an integral part of modern surgical practice. An audit was made in 2010 to assess the status of acute postoperative pain management at Jordan University Hospital. Data were collected from patients' files and through face-to-face interviews of all patients aged over 16 years who underwent general, gynaecological, ear-nose-throat and orthopaedic surgery. Of 275 patients, 72.0% experienced moderate to severe pain postoperatively at rest and 89.3% on movement. No analgesics were prescribed to 4.7% of the patients and of the remainder, a single analgesic was prescribed to 51.5%. Pethidine and paracetamol were the drugs most commonly prescribed (to 66.9% and 42.5% of patients respectively), most often on a regular schedule rather than on-demand. Despite improvements in pain management worldwide, patients at this hospital were still suffering from postoperative pain. Awareness among professionals and the public is needed and a structured acute pain management programme is essential. RÉSUMÉ La prise en charge de la douleur postopératoire est aujourd'hui considérée comme faisant partie intégrante de la pratique chirurgicale moderne. Un audit a été conduit en 2010 pour évaluer la prise en charge de la douleur postopératoire aiguë à l'Hôpital universitaire de Jordanie. Des données ont été recueillies à partir des dossiers médicaux des patients et au cours d'entretiens individuels avec tous les patients de plus de 16 ans ayant subi une intervention chirurgicale générale, gynécologique, orthopédique ou de la sphère ORL. Sur 275 patients, 72,0 % ont ressenti une douleur postopératoire d'intensité modérée à sévère au repos et 89,3 % en action. Aucun analgésique n'a été prescrit à 4,7 % des patients. Pour les patients ayant reçu un traitement antidouleur, un simple analgésique a été prescrit à 51,5 % d'entre eux. La péthidine et le paracétamol étaient les médicaments les plus fréquemment prescrits (à 66,9 % et 42,5 % des patients respectivement), le plus souvent à un horaire régulier plutôt qu'à la demande. Malgré des améliorations de la prise en charge de la douleur au niveau mondial, les patients admis dans cet hôpital souffraient encore de douleur postopératoire. Une sensibilisation des professionnels et de la population est requise et un programme structuré de prise en charge de la douleur aiguë est essentiel
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