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)

Twenty-three percent of patients with beta thalassaemia were found noncompliant to iron chelation. Excluding separation anxiety disorder and primary functional enuresis, the frequency of psychiatric disorders in the noncompliant and the compliant patients was 68% and 10%, respectively. Oppositional disorder was the most frequent psychiatric disorder; it was also associated with the most profound deviation from compliance. Separation anxiety disorder and primary functional enuresis were not associated with noncompliance. In one-third of the noncompliant patients no psychiatric disorder was identified. School performance was poorer in the noncompliant patients. The presence of psychiatric disorders (mainly oppositional disorder), other than separation anxiety disorder and primary functional enuresis, in thalassaemic patients is a risk factor for noncompliance to treatment. Early identification of noncompliance and appropriate psychiatric intervention may help these patients to become compliant with medical treatment.
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PMID:Noncompliance with iron chelation therapy in patients with beta thalassaemia. 269 24

Psychiatric disorders and social profile were investigated in 57 children with beta-thalassaemia and 57 control subjects. Although there was no significant difference in the number of individuals with psychiatric disorders between the two groups, the number of psychiatric disorders observed in the group of patients was significantly greater than in the control subjects (p < 0.01). Oppositional defiant disorder (ODD) was diagnosed in 23% of the thalassaemics and in 5% of the control subjects (p < 0.01). The frequency of ODD in male patients (38%) was significantly greater than in female (7%) (p < 0.01). Thalassaemic patients demonstrated a significantly greater frequency of disturbed behavior with relatives and friends than the control subjects (p = 0.0005). This behavior was related to ODD. Also, thalassaemic patients with ODD showed a significantly higher serum ferritin level than thalassaemics without ODD (p < 0.005). This was attributed to non-compliance to treatment. No association of ODD with another haematological parameter was found. ODD is the major psychiatric disorder appearing in thalassaemic pre-adolescent children warranting psychiatric intervention.
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PMID:Psychosocial status in pre-adolescent children with beta-thalassaemia. 847 22

Schizophrenia is a devastating psychiatric disorder with a high prevalence worldwide. There is therefore a need for animal models allowing the development of new therapeutic interventions and reliable diagnostic tests. In the temporal domain, cannabinoid receptor gene (CB1) knockout mice exhibit behavioural alterations, which parallel symptoms in schizophrenia, cannabis intoxication and dopamine D2 activation. While a specific nucleotide homology between CB1 and D2 accounts for the pathophysiology, pre-inserted spirochaetal DNA on the polyadenylation signal of CB1 reveals the aetiology of schizophrenia. If, in analogy to thalassaemia, mutations occur within this 3' regulatory domain, the genetic expression of CB1 is disrupted and sequential information lost in time. CB1, previously unrecognized as a candidate gene, thus unifies the different aspects of schizophrenic psychosis: cannabis-induced model psychosis, disrupted information processing, spatio-temporal distortions and other psychotic symptoms, disturbed neuronal migration, schizophrenic brain disorder, familial transmission, and prenatal infection by Borrelia burgdorferi.
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PMID:Are cannabinoid receptor knockout mice animal models for schizophrenia? 1139 12

Glycine transporter-1 (GlyT1) inhibition has been extensively studied both in pharmaceutical companies and academic institutions primarily as a potential new approach to treat schizophrenia, a severe and chronic mental illness. More recently, preclinical results have suggested that this approach could also have therapeutic potential for CNS disorders beyond schizophrenia as well as for non-CNS indications. Over the past 17 years, Roche has been a key player in the GlyT1 field with the discovery and development of bitopertin, the most advanced GlyT1 inhibitor to date and the only one which completed Phase III clinical studies for schizophrenia. In this article, we relate the eventful journey of the discovery and development of bitopertin, from project initiation in 2001 to its evaluation today in patients suffering from beta-thalassemia, a monogenic hereditary haematological disorder.
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PMID:Glycine Transporter Type I (GlyT1) Inhibitor, Bitopertin: A Journey from Lab to Patient. 3015 10