Clinical characteristics in long-term care psychiatric patients: a descriptive study.

OBJECTIVE: The purpose of this study was to describe the clinical characteristics and related comorbid conditions of psychiatric patients admitted to residential facilities (RFs) and their impact on the levels of functioning of such patients. METHODS: We assessed 426 patients admitted to residential facilities, by using SCID-I, SCID-II, BPRS, GAF and DAS. RESULTS: The most common diagnostic category was schizophrenia/psychotic disorders (41.8%), followed by affective disorders (35.4%), personality disorders (14.1%), and other disorders (8.7%). In addition 33.3% had a psychiatric comorbidity, and 62.6% had a medical comorbidity. Low levels of functioning were significantly correlated with both medical and psychiatric comorbid conditions. CONCLUSIONS: Comorbidity is common in patients requiring long-term residential care. Thus improved detection and treatment of these conditions in people with severe mental illnesses will have significant benefits for their psychosocial functioning and overall quality of life.

No association between Ala9Val functional polymorphism of MnSOD gene and schizophrenia in a representative Italian sample.

Reactive oxygen species (ROS) have been suggested to play an important role in physiopathology of schizophrenia. The polymorphisms in the genes encoding antioxidant enzymes, such as manganese superoxide dismutase (MnSOD) should, thus, result in predisposition to this psychiatric disorder. A functional amino acid polymorphism (Ala9Val) has been described in the signal sequence of enzyme associated with a decreased defense capacity against oxidative stress. Preliminary evidence in a Turkey population indicated that this polymorphism contributes to physiopathogenesis of schizophrenia. The object of this study was to verify the association between Ala9Val and schizophrenia in a representative Italian sample. The polymorphism was genotyped by PCR amplification and Single-Stranded Conformational Polymorphism (SSCP) analysis in 212 DSMIV schizophrenic patients and 257 healthy volunteers. No association was observed between cases and controls (genotype and allele frequencies: p = 0.72, p = 0.55, respectively) even when a sample stratification for gender, age at onset and diagnostic subtypes was performed. This suggests that the gene variant could not be a risk factor for schizophrenia susceptibility in an Italian sample.

8.5 Mb deletion at distal 5p in a male ascertained for azoospermia.

We report on a 5p- azoospermic male not showing the clinical features diagnostic for the cri-du-chat syndrome but for a breathy, raspy voice. The 5p deletion breakpoint, determined by fluorescent in situ hybridization (FISH) analysis with BAC clones, maps 8.5 Mb far from the short arm telomere in 5p15.31. Genotype/phenotype correlations in this subject, including his neuropsychological assessment, led us to define that the gene for the cat-like cry and one gene responsible for mild mental retardation with speech delay map both in the distal 8.5 Mb of chromosome 5 short arm.

Neurodegenerative diseases caused by protein aggregation: a phenomenon at the borderline between molecular evolution and ageing.

A process of protein aggregation that causes intracellular or extracellular accumulation of insoluble protein deposits causes many important neurodegenerative diseases associated with the ageing. The recognition that protein aggregation plays a prominent role in pathogenesis of important pathologies such as Alzheimer's and Parkinson's diseases prompted the scientific community to focus on the molecular mechanism of protein aggregation. Many proteins with sophisticated functions can self-aggregate because their folding is complicate and abnormal intermolecular contacts can predominate over the normal intramolecular interactions. The review of biochemical functional and pathogenic implications attributed to alpha synuclein, A beta peptide, presenilin and apoE highlights for these proteins a common conformational plasticity and the capacity to adapt their secondary structure to surrounding solvent as well as to the contacted ligands. Their functions are not fully elucidated but there is an elevated number of metabolic pathways in which apparently they are involved as well as they generate functional contact with a remarkable number of other proteins. The mechanism by which alpha synuclein and A beta protein make fibrils is an example of conformational plasticity because both these polypeptides can visit a coil or helical structure, but otherwise they convert into a pathogenic beta sheet structure highly suitable for polymerisation and fibril formation. The emerging question in the puzzling pathogenic basis of these diseases is if protein aggregation associated with ageing has a role in molecular evolution of the species or if it just represents a calculated drawback.