Fertility in a i(Xq) Klinefelter patient: importance of XIST expression level determined by qRT-PCR in ruling out Klinefelter cryptic mosaicism as cause of oligozoospermia.

The presence of an isochromosome Xq in Klinefelter syndrome (KS) is an apparently rare condition. In all cases reported so far, patients showed the classic phenotype. We here describe a case of isochromosome Xq [47,X,i(Xq),Y] in a non-mosaic KS patient. The patient exhibited a normal androgenized phenotype, normal testes and normal cognitive abilities. Semen analysis revealed a medium oligozoospermia (5 x 10(6) spermatozoa/ml). After the patient underwent intracytoplasmic sperm injection, he generated two cytogenetically healthy normal females. Fluorescence in situ hybridization analysis showed the presence of a dicentric Xq chromosome that did not show the presence of residual Xp arm up to the 57,820,478 bp position (Xp 1.1) of X chromosome sequence. Preferential inactivation of Xq isochromosome was demonstrated by bromodeoxyuridine replication analysis and transcriptional silencing by DNA methylation at the HUMARA locus. Furthermore, we demonstrated by quantitative RT-PCR an active XIST RNA expression in blood lymphocytes from Klinefelter patients, comparable to that observed in control females and over 30,000-fold greater than in control males. In conclusion, this qRT-PCR approach could be useful for screening of prepuberty males and for diagnosis or exclusion of cryptic Klinefelter mosaics.

Fluoxetine in the treatment of Huntington's disease.

RATIONALE: Recent reports suggest the possible efficacy of selective serotonin reuptake inhibitors (SSRIs) in treating particular symptoms of Huntington's disease (HD), such as aggressiveness and agitation. However, predictive features to identify HD subjects who may benefit from this treatment have not been established. OBJECTIVES: Two individuals from a large HD pedigree with a very high prevalence of obsessive-compulsive disorder (OCD) have been treated with fluoxetine, an SSRI. We aimed at testing whether the co-occurrence of the two disorders in this pedigree might have some underlying pathogenic similarities, maybe also resulting in a good response of HD symptoms to the anti-obsessional drug fluoxetine. METHODS: Each patient was evaluated, started on fluoxetine treatment, and then reassessed monthly with: (a) the HD motor rating scale, to rate the impairment of movement, and (b) the mini mental state examination, for a cognitive ascertainment. They had a complete psychiatric and neurologic examination as well. RESULTS: Both subjects showed an excellent response to fluoxetine. One patient exhibited improvement of the motor and behavioral components of the disorder, while the other improved also in the cognitive domain of HD. The best response was shown by the individual suffering from OCD in her youth. The amelioration in these two patients has been maintained for 2 and 6 years, respectively, whereas the course of HD is that of a progressive deterioration. CONCLUSIONS: Firm conclusions to explain these results cannot be drawn. However, a hypothetical involvement of the serotonergic system, suggested by the excess of OCD in the pedigree, seems supported by the response of these two individuals to fluoxetine. It may be worth further exploring the value of the psychiatric picture in selecting the appropriate treatment for at least some cases of HD.

[Epileptic syndromes and seizures and their relationship with work: a prospective ambulatory study in 412 epileptic patients]. / As síndromes e crises epilépticas e suas relações com trabalho: estudo prospectivo ambulatorial de 412 pacientes.

This study aims to evaluate, prospectively, the epileptic syndromes and seizures types upon work based on a sample of 412 out-patients from Hospital de Base, São José do Rio Preto, SP, Brazil. It was observed that the epileptic syndromes were significant in relation to the patients' labor skills (p= 0.001): the idiopathic syndromes showed less prejudiced, while the symptomatic was more. The seizures types also had some influence in relation to the patients' labor skills (p=0.016): the generalized non-convulsive seizures had no involvement; the simple partial and the non-classified had moderately involvement; and the simple partial seizures evolving to complex and tonic-clonic generalized were the seizures which mostly have taken the patients away from work. The seizure severity was also analyzed.

Huntington's disease and its association with psychopathology.

We review several aspects of Huntington's disease (HD), with a special focus on the psychopathological manifestations often identified in patients with this disorder. We discuss the evidence for a higher-than-average prevalence of psychosis, depression, and obsessive-compulsive disorder (OCD) in individuals with HD or at risk for the illness and analyze the possible significance of these findings. Particular emphasis is placed on OCD, in view of the neuroanatomical impairment that this condition shares with HD, the symptomatic similarities between these disorders, and recent findings of an excess of OCD in HD-affected families. We hypothesize that precise characterization of the psychiatric status of some HD patients showing psychopathological manifestations and their families might help to distinguish different clinical subtypes of the disorder. This approach could hold promise in improving the management of HD in the future.

Association of obsessive-compulsive disorder and pathological gambling with Huntington's disease in an Italian pedigree: possible association with Huntington's disease mutation.

This paper describes a pedigree with Huntington's disease (HD), in which three cases of obsessive-compulsive disorder (OCD) and two cases of pathological gambling (PG) were identified. The mutation analysis of the HD gene was carried out in the examined individuals who were at risk for HD. In fact, OCD and PG only occurred in carriers of the HD expansion. The possible implications of this finding are discussed.

A small deletion on the short arm of chromosome 18 in a female schizophrenic patient.

The authors describe the occurrence of a small deletion localised on the short arm of chromosome 18 in a young female with a diagnosis of paranoid schizophrenia.