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1.
J Hum Genet ; 56(12): 869-72, 2011 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-21993419

RESUMEN

The present study aims at investigating the association between common and rare variants of mitochondrial DNA (mtDNA), and increased risk of schizophrenia (SZ) and bipolar disorder (BPD) in a cohort of patients originating from the same Italian population. The distribution of the major European mtDNA haplogroups was determined in 89 patients and their frequencies did not significantly differ from those observed in the Italian population. Moreover, 27 patients with high probability of having inherited the disease from the maternal side were selected for whole mitochondrial genome sequencing to investigate the possible presence of causative point mutations. Overall, 213 known variants and 2 novel changes were identified, but none of them was predicted to have functional effects. Hence, none of the sequence changes we found in our sample could explain the maternal component of SZ and BPD predisposition.


Asunto(s)
Trastorno Bipolar/genética , ADN Mitocondrial , Genoma Mitocondrial , Esquizofrenia/genética , Estudios de Cohortes , Predisposición Genética a la Enfermedad , Humanos , Filogenia , Mutación Puntual
2.
Psychother Psychosom ; 78(6): 346-51, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19713729

RESUMEN

BACKGROUND: Research evidence has highlighted the relevance of endocrine/metabolic abnormalities in psychiatry and of psychosocial implications in endocrinology. However, the value of interdisciplinary expertise has not been implemented in clinical practice. We have therefore designed a new outpatient clinic, called the Psychoneuroendocrinology Service, to apply the principles of current psychosomatic medicine and report here on the first 100 referrals. METHODS AND RESULTS: Of the first 100 patients (74 females/26 males; mean age 44 +/- 13.8 years), the sources of referral were the Mental Health Center (n = 41), specialists (n = 37) and primary care physicians (n = 22). The main reasons for referral were endocrine assessment (n = 40), unexplained medical symptoms (n = 18) and poor response to treatment (n = 17). The most frequent medical diagnoses were obesity/overweight (n = 22), hypertension (n = 20) and hypothyroidism (n = 11). The most frequent psychiatric diagnoses were major depression (n = 15), schizophrenia/schizoaffective disorder (n = 13) and bipolar disorder (n = 12). Subclinical symptoms (Diagnostic Criteria for Psychosomatic Research) found were persistent somatization (n = 18), demoralization (n = 14) and irritable mood (n = 7). Therapeutic strategies included lifestyle modifications (n = 45), explanatory therapy (n = 30), low-dose clonazepam (n = 23) and modifications of existing treatment with psychotropic drugs (n = 16). CONCLUSIONS: In this highly selected population, several difficult patients could be appropriately managed by virtue of a holistic view. Such an approach must involve experienced clinicians with a broad-spectrum training in psychoneuroendocrinology and psychosomatic medicine. If confirmed in its efficacy and cost-effectiveness, this model might be further expanded.


Asunto(s)
Instituciones de Atención Ambulatoria , Trastornos Psicofisiológicos/diagnóstico , Adulto , Enfermedades del Sistema Endocrino/diagnóstico , Enfermedades del Sistema Endocrino/psicología , Enfermedades del Sistema Endocrino/terapia , Femenino , Humanos , Italia , Masculino , Trastornos Mentales/diagnóstico , Trastornos Mentales/psicología , Trastornos Mentales/terapia , Neuroendocrinología/organización & administración , Trastornos Psicofisiológicos/terapia , Medicina Psicosomática/organización & administración
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