- MeSH
- akromegalie komplikace MeSH
- alkaptonurie komplikace MeSH
- beta-talasemie komplikace MeSH
- diferenciální diagnóza MeSH
- Gaucherova nemoc komplikace MeSH
- glukokortikoidy aplikace a dávkování MeSH
- hemochromatóza komplikace MeSH
- hemofilie A komplikace MeSH
- hemoglobinopatie klasifikace komplikace MeSH
- hepatolentikulární degenerace komplikace MeSH
- hyperlipidemie farmakoterapie klasifikace komplikace MeSH
- hypolipidemika aplikace a dávkování MeSH
- komorbidita MeSH
- komplikace diabetu MeSH
- krevní nemoci komplikace MeSH
- lidé MeSH
- nádory komplikace MeSH
- nemoci endokrinního systému klasifikace komplikace MeSH
- nemoci kloubů diagnostické zobrazování etiologie farmakoterapie klasifikace MeSH
- nemoci štítné žlázy komplikace MeSH
- nemoci svalů komplikace MeSH
- paraneoplastické syndromy diagnóza MeSH
- revmatické nemoci * diagnostické zobrazování etiologie farmakoterapie klasifikace MeSH
- sfingolipidózy klasifikace komplikace MeSH
- srpkovitá anemie komplikace MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- přehledy MeSH
AIMS: The skeletal manifestations of sickle cell disease are the result of changes in bone and bone marrow caused by chronic tissue hypoxia that is exacerbated by episodic occlusion of the microcirculation by the abnormal sickle cells. Furthermore, the occurrence of osteonecrosis is under the control of some modifier gene. BMP6 (Bone morphogenetic protein) has been reported as associated with osteonecrosis in sickle cell anemia (SCA). Herein, we intend to study the impact of rs267196, rs267201, rs408505 and rs449853 of BMP6 gene in the occurrence of osteonecrosis among sickle cell patients in Tunisia. METHODS: Our study involved 100 SCA patients among whom 19 have osteonecrosis of the head of the femur. The latter polymorphisms of BMP6 gene were analyzed for all subjects by PCR/sequencing. To test for trait association with the candidate SNPs, genotype and allele frequencies between cases (osteonecrosis group) and controls (non-osteonecrosis group) were compared using Pearson's chi_square test with a significance threshold of P<0.05 (compare 2, version 1.02). RESULTS: Our findings showed that the patients carried genotype TA of rs 267196 and genotype AG of rs267201 present a high risk factor for developing osteonecrosis RR=1.317 and RR=1.3 respectively. The results showed a significant association between the alleles A of rs 267196 and G of rs267201 and osteonecrosis P=0.0023; RR=2.42 and P=0.041; RR=2.24 respectively. Interestingly, SCA patients with the combined genotype TA/AG were found to be at higher risk of developing osteonecrosis (P=0.009). As for rs408505 and rs449853 of BMP6 gene no significant association was found among SCA patients.
- MeSH
- dospělí MeSH
- fenotyp MeSH
- frekvence genu MeSH
- genetická predispozice k nemoci * MeSH
- kostní morfogenetický protein 6 genetika metabolismus MeSH
- lidé MeSH
- osteonekróza etiologie genetika metabolismus MeSH
- polymerázová řetězová reakce MeSH
- polymorfismus genetický * MeSH
- regulace genové exprese * MeSH
- rizikové faktory MeSH
- RNA nádorová genetika MeSH
- srpkovitá anemie komplikace genetika metabolismus MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
The predominant pathophysiological feature of homozygous sickle cell anemia (SCA) is the vaso-occlusion. Vaso-occlusion can be associated with painful crises, which are the primary reason for those patients to seek medical care. Vaso-occlusion is responsible for the acute chest syndrome (ACS) with large morbidity and mortality or more rarely (and especially in adults) for priapism and acute neurological events (strokes). A 10-year-old boy with homozygous SCA was admitted to the Pediatric Emergencies with painful vaso-occlusive crisis and fever. Initially he had normal chest X-ray but, after 24-hour-hospitalization, he developed ACS with new chest X-ray findings. He was treated with broad spectrum antibiotics, blood transfusions and bronchodilators and after a six-day treatment, he was significantly improved. The patient was discharged 13 days later with no other therapy at home. The possibility of ACS development should be still considered, even when a known patient with SCA presents a painful vaso-occlusive crisis with an initial normal chest X-ray. Therefore, repeated clinical examination is required and possible changes in the clinical status could indicate the necessity of a new radiographic examination. In this way, early ACS could be recognized and the catastrophic consequences due to this syndrome could be avoided.
- MeSH
- akutní hrudní syndrom diagnóza etiologie radiografie MeSH
- bolest etiologie MeSH
- dítě MeSH
- lidé MeSH
- nemoci cév etiologie MeSH
- srpkovitá anemie komplikace MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- MeSH
- krvácení do sklivce etiologie MeSH
- lidé MeSH
- neovaskularizace sítnice etiologie patofyziologie MeSH
- sklivec patologie MeSH
- srpkovitá anemie diagnóza komplikace MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- kazuistiky MeSH
- MeSH
- antropometrie metody MeSH
- hemoglobinopatie etnologie patofyziologie MeSH
- kardiovaskulární systém patofyziologie MeSH
- lidé MeSH
- mladiství MeSH
- srpkovitá anemie komplikace MeSH
- tělesná výkonnost etiologie fyziologie patofyziologie MeSH
- tropické klima škodlivé účinky MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- Geografické názvy
- Senegal MeSH
- MeSH
- dítě MeSH
- lidé MeSH
- předškolní dítě MeSH
- srpkovitá anemie epidemiologie komplikace terapie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Geografické názvy
- Guinea-Bissau MeSH
- Mali MeSH
