Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The epidemiological characteristics of 359 difficult intubations resulted from retrospectively collected data in a series of 4.742 individual anaesthetic case records of consecutive adult patients (2392 men, 2350 women) undergoing general anaesthesia for routine surgery. The preoperative assessment of each patient's airway was performed using standardized guidelines. Mandibular length, body weight and mobility of jaw, head and neck were evaluated with simple measurements. The presence of protruding maxilla or upper teeth, tongue tumor or cyst, long narrow mouth, short muscular neck and deviation of larynx or trachea was based on clinical and/or radiological examination. Severity of difficulty in intubation was estimated on a five-point scale grades (0-4) according to the view obtained at laryngoscopy and the final outcome of airway management. Difficult intubation (grades 1-4) was confirmed in 359 cases (7.6%) of which 208 were anticipated (57.2%). The effectiveness of preoperative evaluation had a positive correlation with the level of difficulty since, the greater the grade of difficulty the greater the sensitivity. The prevalence of failed intubation (grade 4) was 0.5%. Risk factors which had been correlated with the relative size of the tongue proved to have low probability and level of difficulty of intubation. The most important risk factor was limited jaw movement (median grade of difficulty: 4, positive predictive value: 75.0%). Large endemic goitre and thalassaemia constitute RFs contributing occasionally to difficult airway. The positive predictive value was 61.5% and 40.9% respectively. The combination of risk-factors had a cumulative impact contributing to the high level of difficulty.
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PMID:Evaluating the difficult airway. An epidemiological study. 891 85

We report on a familial submicroscopic translocation involving chromosomes 8 and 16. The proband of the family had a clinical picture suggestive of a large deletion in the chromosome 16p13.3 area, as he was affected with tuberous sclerosis complex (TSC) and had alpha thalassaemia trait, and his half brother, who also had TSC, may have suffered additionally from polycystic kidney disease (PKD). FISH studies provided evidence for a familial translocation t(8;16)(q24.3;p13.3) with an unbalanced form in the proband and a balanced form in the father and in a paternal aunt. The unbalanced translocation caused the index patient to be deleted for the chromosome 16p13.3-pter region, with the most proximal breakpoint described to date for terminal 16p deletions. In addition, FISH analysis showed a duplication for the distal 8q region. Since the index patient also had hypomelanosis of Ito (HI), either of the chromosomal areas involved in the translocation may be a candidate region for an HI determining gene. Furthermore, it is noteworthy that both carriers of the balanced translocation showed a nodular goitre, while the proband has hypothyroidism.
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PMID:An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito. 1074 47

The orchestrated organization of epigenetic factors that control chromatin dynamism, including DNA methylation, histone marks, non-coding RNAs (ncRNAs) and chromatin-remodeling proteins, is essential for the proper function of tissue homeostasis, cell identity and development. Indeed, deregulation of epigenetic profiles has been described in several human pathologies, including complex diseases (such as cancer, cardiovascular and neurological diseases), metabolic pathologies (type 2 diabetes and obesity) and imprinting disorders. Over the last decade it has become increasingly clear that mutations of genes involved in epigenetic mechanism, such as DNA methyltransferases, methyl-binding domain proteins, histone deacetylases, histone methylases and members of the SWI/SNF family of chromatin remodelers are linked to human disorders, including Immunodeficiency Centromeric instability Facial syndrome 1, Rett syndrome, Rubinstein-Taybi syndrome, Sotos syndrome or alpha-thalassemia/mental retardation X-linked syndrome, among others. As new members of the epigenetic machinery are described, the number of human syndromes associated with epigenetic alterations increases. As recent examples, mutations of histone demethylases and members of the non-coding RNA machinery have recently been associated with Kabuki syndrome, Claes-Jensen X-linked mental retardation syndrome and Goiter syndrome. In this review, we describe the variety of germline mutations of epigenetic modifiers that are known to be associated with human disorders, and discuss the therapeutic potential of epigenetic drugs as palliative care strategies in the treatment of such disorders.
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PMID:Genetic syndromes caused by mutations in epigenetic genes. 2337 May 4