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Aim: Aggressive and violent behaviours in juveniles and young adults have become increasingly widespread. Most such behaviours have 2 common roots: lack of actual motivation and brutality. The most reliable indicators and predictive signs have been linked to structural personality features (e.g. defensive strategies, impulse control). With this cross-sectional study we wanted to determine specific indicators and predictive signs of violent and aggressive behaviours in these population segments., Methods: We compared the structural personality features of 3 groups: one with 26 male adolescents with conduct disorder (F91.8), one with 29 male patients with borderline personality disorder (F60.31) and one with 34 male prisoners with antisocial personality disorder (F60.2). The test battery included: the ''Structured clinical interview for DSM-IV axis II disorders'' (for the recruitment of adult groups); the ''Indicators of aggressive conduct'' and the ''Profile of mood states'' (for the recruitment of the adolescent group); the ''Defense mechanisms inventory'' (DMI)., Results: The predominant defensive strategies and starting emotional backgrounds differed significantly among the groups. A profile of low emotional response was found to support aggressiveness, while a profile of aggressiveness and violence was associated with clinically significant impulsivity., Conclusions: Several indicators and clinical predictors of aggressiveness and violence, as well as high-risk-profiles, may be determined using these instruments.

Aim: The abuse of anabolic steroids is emerging as a psychosocially significant issue. In the last few years the use of the substances has shifted from professional sports to amateur sports and certain occupations (bouncers, models, etc.). In the literature, steroid users are portrayed as multidrug users who engage in dangerous and aggressive behavior towards themselves and others. This study looks into the habits, lifestyles and psychological profiles of a group of subjects who make regular use of sports centres in the city of Palermo, Italy, with the aim of establishing how the abuse of anabolic substances is associated with a specific lifestyle and particular psychosocial behaviour., Methods: A revision of the American Massachusetts Youth Risk Survey questionnaire (1993), adapted for the Italian context, and a personality assessment scale, The Adjective Check List (1980), were administered to a group of 71 subjects., Results: Fifteen of these subjects admitted taking steroids with differing frequencies. Using Spearman's rho rank correlation, repeated use of anabolic steroids was found to be correlated with abuse of other types of drugs, risk behavior and a distinct personality pattern. Steroid abuse was found to be significantly correlated (r = 0.35, 0.31, 0.30, 0.28, P < 0.01) with illegal drug use (LSD, cocaine and heroin)., Conclusions: It is therefore imperative to develop studies and analyses to investigate more thoroughly the phenomenon and its related psychological and social context in order to lay the foundations for a targeted prevention programme, especially in countries such as Italy where this type of drug abuse is still largely unrecognised and risks degenerating into a new, full-blown social disease.

Aim: Renal pathologies have an hard impact on ill children's life style, psychic and physical development. In the last years, even if medical cures allowed these children to live longer and to have a better quality of life, today both their families and themselves have to face a lot of difficulties due to the kind of pathology. These children show behaviour troubles, bad sociability, aggressiveness, poor school performance, anxiety and depression, and then the subjects with chronic renal failure show a retard in neurological and cognitive development. In this study we evaluated the impact that the chronic renal illness has on children and adolescents' quality life., Methods: For this study, we have used the Impact of Childhood Illness Scale. It includes 30 questions that value 4 aspects of the child and family's life style: illness and its treatment, impact on the child, impact on parents and impact on the family. For every question, it considers the frequency of the problem and the degree of the worry that it causes. We gave the questionnaire to 47 couples of parents' children who are suffering from chronic renal diseases (19 subjects with nephrotic syndrome, 7 with chronic glomerulenephritis, 10 with chronic renal failure, 5 dialysed, 6 with kidney transplant). All parents compiled the questionnaire., Results: The obtained results showed that developing age subjects, who are affected by chronic renal diseases, can have emotional and behavioural difficulties that have an effect on subject and on his family. Their parents live in a continuous stress state because chronic pain and anxiety cause depression, a sense of inadequacy and frustration., Conclusions: As in every chronic physical illness, the sick child and his family are obliged to face a series of physical, behavioural and emotional changes. Besides, they are faced by possible collateral effects of the illness and of its treatments on development.

Aim: In the last few years some studies have been made about homosexual parenthood and especially if this interferes with the child's development, identity and future sexual tendency. These studies prove that the parents' homosexuality does not seem to compromise the child's psychosexual development and that the child's possible homosexuality does not depend on the parents' sexual behaviour but on different factors linked to the relationship; as a matter of fact there are no relevant differences in the occurrence of homosexuality in children born from homosexual and heterosexual parents. The present study investigated the psychological and sexual development in a group of children of homoparental family., Methods: The sample observed included 37 children, 22 male and 15 female. The following psychodiagnostic tests were used for assessment: spontaneous drawing, draw-a-person test, family drawing, blacky pictures test. The developmental of the child's sexual identity was determined through the preferences and fantasies he/she showed while playing, in the relationship with his/her mates, in the way of dressing. We used interviews with the child and the parents., Results: All the children showed a good adherence to their sexual role. The observations and interviews proved that the children's disorders are not linked to the parents' homosexuality., Conclusions: Being brought up by homosexual parents does not seem to compromise the child's future sexual tendency. However, in these children the sexual preference could change in adult life, being influenced by future situations and circumstances.

Aim: Several studies focus on the psychic development of extremely low birth weight (ELBW) preterm infants and highlight the presence of neurological, cognitive and relating disorders. Several contributions have in fact shown that in these subjects in school age disturbances of cognitive functions may be encountered; in particular, disturbances of specific neuropsychological functions, such as attention defects, impaired visuo-spatial function, memory and language have been reported in subjects with a globally normal intelligence quotient., Methods: Forty-three school-aged children were studied (21 males and 22 females). They had a low birth weight (weight between 1,050-2,450 g), the gestation period was between 29 and 32 weeks and they were compared with a control sample whose birth weight was >2,500 g. Cognitive development was assessed by a test battery including WISC-R, Zazzo "deux Barrage" Test, Benton Visual Retention Test and Frostig Developmental Test of Visual Perception. Parents were also called in to evaluate how they had experienced the birth of their child and how long the mother had been kept in the clinic., Results: The overall analysis of our study suggests normal cognitive development in these children. No significant diffences were detected in the 2 studied groups. The lack of differences could be associated with the criteria used to select our sample because no children with severe perinatal disorders were included in the study. In addition, a good mother-child relationship seems to have been established in these children and this has certainly contributed to cognitive development adequate to their age., Conclusion: The prognosis of these children is therefore closely related both to the birth weight and, especially, to the difficulties faced in the neonatal age (severe perinatal diseases).

Background: Several studies on the intelligence of children suffering from Duchenne muscular dystrophy (DMD) found impairments in linguistic functions, memory and affective development. Memory deficit mainly involves long-term memory; short-term memory impairment was also present, even if less frequently. Some studies tried to establish a correlation between the distal deletion of the dystrophin gene and low intelligence levels., Methods: The present study investigated the cognitive, emotional and relational states in a group of DMD children. The patients were selected on the basis of physical examination, muscle biopsy, histochemical analysis, genetic testing, regular schooling. Molecular genetic testing detected a deletion in 2 high frequency deletion regions in all subjects. The following psychodiagnostic tests were used for assessment: WISC-R, Spontaneous Drawing, Draw-A-Person test, Family Drawing, Thematic Apperception test and Rorschach test., Results: No impairment of the intellectual function was detected in the group of children we examined; only 2 subjects had a total IQ below average. Instead, psychic disorders were detected such as proneness to isolation, self-depreciation, past experiences of marginalization, minor depressive symptoms, insecurity signs, hypochondriac worries and high level of anxiety. In addition children exhibited poor adaptation to the environment and labile affectivity, scarcely controlled by the higher conscious levels., Conclusions: These disorders are often a dynamic prolongation of a psychological process starting when the diagnosis is made and continuing in a slow and latent fashion throughout the evolution of the disease.

Alcohol constitutes one of the main risk factors for the health of the newborn infant and is also one of the leading causes of cognitive deficit. The distinctive pattern of abnormalities that characterizes fetal alcohol syndrome (FAS) includes: pre- and postnatal growth retardation, cognitive deficit, behavior and language disorders, cerebral malformations (schizencephaly, polymicrogyria, agenesis of the corpus callosum), facial changes (short palpebral fissures, low nasal bridge, anomalies of the auricle, maxillary hypoplasia, cleft lip and palate) and organ anomalies (heart defects, renal and skeletal malformations). As occurs with any teratogenic agent, the variability of phenotypic expression is wide and depends on dose, gestational stage, duration of exposure, maternal and fetal metabolism and other environmental and genetic factors. This study describes 6 subjects with FAS who express various characteristics of the clinical spectrum of the syndrome.

Purpose: Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS+) families and severe myoclonic epilepsy of infancy. The present study assessed the role of SCN1A in familial typical FSs., Methods: FS families were selected throughout a collaborative study of the Italian League Against Epilepsy. For each index case, the entire coding region of SCN1A was screened by denaturant high-performance liquid chromatography. DNA fragments showing variant chromatograms were subsequently sequenced., Results: Thirty-two FS families accounting for 91 affected individuals were ascertained. Mutational analysis detected a single coding variant (A3169G) on exon 16. The extended analysis of all family members and 78 normal controls demonstrated that A3169G did not contribute to the FS phenotype., Conclusions: Our study demonstrated that SCN1A is not frequently involved in common FSs and suggested the involvement of specific FS genes.

Background: To verify the reliability of the evaluation of the original thought through verbal tests, processed and standardised with reference to different socio-cultural contexts. In this respect we focused our attention on the Torrence Test on Creative Thought (TTCT), considering the trans-cultural studies carried out by Torrence., Methods: The analyses were carried out on the linguistic output of 116 subjects attending the 4th and 5th years of primary school, responding to the first verbal activity of the TTCT. For the evaluation of the Italian output, pointing out the Type and Token, morphemes and phrases were considered as basic units. The authors calculated the percentage values of occurrence of phrases, morphemes and grammatical functions. Then they made cross comparisons between the resulting percentage values, found unique morphemes, morphemes recurring only twice, as well as phrases characterised by the presence of the aforesaid typology of words., Results: TTCT prescriptive evaluation: the percentage (41.19%) is in favour of a widespread originality in the phraseological output of our sample. Evaluation of phrases/units according to their statistical frequency: 93.39 and 83.91% respectively of the type/phrases and of the overall phraseological output turned out to consist of unique phrases. Originality: Italian linguistic production is highly original. Analysis of phrases containing unique and double words: the evaluation of Originality according to Torrence's criteria was not adequately confirmed in our sample. Functional analysis: it showed that 23.17 and 41.67% of unique productions acted respectively verbs and as nouns; the only analogies in the comparison between American and Italian productions were pointed out by analyses carried out according to the criterion of the grammatical function of words., Conclusions: The data from this research bring forward the use of tests with verbal contents whose ideational solutions are articulate and complex linguistic propositions, validated on people that are different in terms of lexical structures and reference context, from those on whom the prescriptive criteria are identified and built. With reference to the higher levels of Originality noticed in the Italian linguistic output in comparison with American, the question is still open if they are linked to creative modes of thought or can be referred to specific cultural styles of the Italian language.

Purpose: To investigate the antioxidant status of cultured uveal melanocytes from patients with uveal melanoma and uveal melanoma cells to characterize some of the biochemical properties of these cells in respect to the normal cutaneous melanocytes., Methods: The fatty acid pattern of membrane phospholipids, intracellular vitamin E level, and superoxide dismutase (SOD) and catalase activities were studied in uveal melanocytes (n = 10) and uveal melanoma cell (n = 10) cultures, by gas chromatography mass spectrometry or by spectrophotometer., Results: Among the uveal melanocyte cultures, two groups were differentiated, according to catalase activity: group A with catalase values comparable to those of cutaneous ones and higher SOD activity and group B with catalase values 2 SD lower (P<0.001) and lower SOD activity. Vitamin E concentration was not significantly different between melanoma cells and melanocytes, whereas a significantly higher percentage of polyunsaturated fatty acids was found in melanoma cells and the B group of melanocytes (P = 0.022). In uveal melanoma cells SOD activity was significantly lower than that detected in uveal melanocytes (P< 0.005)., Conclusions: These results show a different pattern of antioxidants in uveal melanocytes with respect to cutaneous ones, possibly related to the anatomic distribution. However, as in cutaneous melanocytes, two subgroups were identified on the basis of the antioxidant pattern that could be the expression of a constitutional increased susceptibility to oxidative stress in some subjects. Moreover, an imbalance of the antioxidants was observed in melanoma cells, possibly related to the disease status and progression.

Background: Spastic hypertonia with or without athetosis is the main cause of impairment of motor functions. In actual treatments to this condition, it is provided the application of the type A botulinic toxin, which allows the decrease of spasticity and, at the same time, the amelioration of the movement control, reducing the incidence and gravity of contractures., Methods: This work relates about the treatment of spasticity with the use of type A botulinic toxin in a group of 18 subjects in evolutive age. Before the treatment and during the follow-up, each clinical case had an objective general test, a neurologic test, a video recording and, at the same time, the administration of the Physician Rating Scale (PRS) to evaluate both pace and amplitude of the circular movement., Results: Ten subjects showed a prominent reduction of hypertonia and contractures, amelioration in ambulating and grievous symptomatology. Eight cases presented a light amelioration; only a case suffered of a temporary hyposthomia. The sensibility of the subject to the toxin can ever since be researched, through the toxin inoculation in a not jet involved distal muscle, and through a following clinical or electromyographic evaluation on the caused effect. This allows to put in evidence the increasing resistance to the toxin after repeated administrations., Conclusions: It is interesting to evaluate the way in which the lives of patients and their parents have been influenced by the disease, and how the use of botulinic toxin may positively interfere on it.

In 1967 a baby was observed who presented post-natal progressive growth deficit, mental retardation, craniofacial dysmorphias and other malformations which didn't form part of the syndromes till then known. However the first description of patients with this combination of anomalies dates back to 1981, when Niikawa and Kuroki described the main clinical signs which characterize the syndromic table. The size and weight deficit is progressive and it reveals itself during the first year of life. The features of the face are like the make-up of kabuki actors, the word from which the denomination comes. The mental retardation is of a slight degree; there is also a retardation in the acquisition of evolutive psychomotor stages. Speech is not very structured, it begins with the first syllables at about three years and remains poor with close, unclear and tied words. Other elements which define the syndrome are: the skeleton anomalies, dermatoglyphic anomalies, cardiological and renal anomalies. The aetiology is still unknown; it is thought that it may be X-linked or autosomal predominant transmission by new mutation. The genetic analysis has shown chromosomic anomalies only in a few cases. The rareness of the syndrome and the unmistakable clinical characteristics which make diagnosis possible leads to a description of three new case. All cases present a post-natal deficit of growth, psychomotor and/or mental retardation, autistic traits, dysmorphic facies, skeleton anomalies, partial epilepsy; two cases present cardiovascular defects. In one case the GH-dependent deficit of size has been corrected by hormonal treatment.

The Smith-Magenis syndrome (SMS) is characterized by congenital anomalies, mental retardation and the interstitial deletion of the 17p. 11.2 chromosome. The subjects affected by this syndrome show cranio-facial dysmorphias, brachycephalia, skeletal, ocular, cardiac, genitourinary and otolaryngological anomalies. The central nervous system is affected and this may be shown by psychomotor retardation, intellective deficit, electroencephalographic alterations (reduced/missing REM phase); the neuroradiological tests detect megacisterna magna, cerebellar hypoplasia, cortical dysplasia, ventricular asymmetry. Behavioural troubles are frequent and, among them, self-aggressive conducts (tearing out the nails). The syndrome is associated with the interstitial deletion of the 17p. 11.2 chromosome. The diagnosis can be made in the pre-natal period and a mosaic situation is possible. Even though the cases of SMS reported in the literature allow defining a characteristic phenotype, studies have been carried out to quantify the deletion of the chromosome 17 in order to identify the chromosomic tract which is responsible for the phenotypical induction. The deletion can either appear de novo or come from one of the parents. In addition, these subjects can show peripheral neuropathy, missing or reduced deep tendon reflexes and (rarely) epileptic crises. However, by reviewing the literature, no descriptions of patients affected by infant spasms are pointed out. This report refers to a new case of Smith-Magenis syndrome in a nine-month-old girl with spasms in extension.

Cytogenetic analyses conducted on several cases of melanoma have contributed to the identification of the chromosomal regions where the sequences responsible for malignant transformation and the evolution of this tumor are probably located. With regard to these problems, it is very important to have the possibility to analyze, through the use of cytogenetics, both the primary melanoma and the metastatic lesions from the same patient. We present a case in which the primary melanoma and five different metastases were studied by using cytogenetics. The primary tumor showed an inversion of chromosome 1 where the p36 region, often proposed in literature as the location of a melanoma susceptibility gene, was involved. Three cutaneous and one lymphonodal metastases presented the same nine clonal chromosomal aberrations. In particular, one is a further rearrangement of the marker present in the primary tumor; another is a deletion of the 9p21pter region in which the p16 gene is located. Our results can provide a contribution to the hypothesis of the location of a candidate gene for melanoma in the 1p36 region and can also underscore the role of the 9p21 region in the progression of melanoma.

For clinical and epidemiological screening a simple and sensitive methodology was developed for detection of preformed lipid peroxides (LPO) in low density lipoprotein (LDL). For this purpose, the iodometric assay of El-Saadani et al. (J Lipid Res 1989;30:627-30) was adapted to the fraction containing LDL isolated by polyanion precipitation avoiding ultracentrifugation. This fraction also includes intermediate density lipoprotein. Stratifying 53 individuals by their serum triglyceride levels (TG) the highest quartile showed a highly significant elevation of LDL-LPO compared with the lowest one (69.2 +/- 41.2 vs 22.9 +/- 10.0 nmol mg-1 LDL-apo B, P < 0.001). LDL-LPO concentration also showed a strong correlation with TG (r = 0.73, P < 0.00001) and significant inverse correlations with high density lipoprotein cholesterol (HDL-C) and HDL3-C subfraction (r = -0.37, P < 0.01 and r = -0.38, P = 0.01, respectively). The TG/HDL-C ratio, which is closely associated with insulin resistance, was strongly correlated with LDL-LPO (r = 0.83, P < 0.00001). Significant elevations of LPO were observed in phenotypic hyperlipoproteinemias (HLP) IIb and IV (P < 0.01 and P < 0.02, respectively) and when expressing LPO in mol/mol of LDL-apo B, two- and 2.5-fold higher values were found in types IIb and IV HLP, respectively, compared with normolipidemic subjects, suggesting a more oxidative environment for apo B in both phenotypes. No variations in LPO were found in type IIa HLP. This simple assay for in vivo detection of LDL-LPO, emphasises the possible atherogenic effect of TG through their oxidative capacity and suggests the integration of LPO to the cluster of associated risk factors: high TG, low HDL-C and insulin resistance.

Controversial data have been reported about HLA alleles and susceptibility to melanoma. Our investigation was undertaken to analyze the relationship between HLA alleles distribution in patients with melanoma and susceptibility to the tumor, in order to study the possible correlation between HLA class II DQA1, DQB1 and DRB1 genes involved in immune recognition, and melanoma, usually considered a highly immunogenic tumor. We therefore typed by means of PCR-SSP (sequence-specific primers) 53 Italian patients and 53 healthy random controls coming from the same geographic area. We observed a decrease of all haplotypes bearing DQB1*0301, DQB1*0302 and DQB1*0303 alleles but not of haplotype DRB1*11;DQA1*0501;DQB1*0301. Our results seem to support the hypothesis of a protective role of some DQ3-bearing haplotypic combinations in melanoma.

We performed chromosome microdissection in order to define the "de novo" rearrangement observed in a female patient affected by: frontal microgyria, mild psychomotor retardation, thoracic scoliosis, XIIth rib asymmetry and facial dysmorphisms. Through the use of the micro-FISH we evidenced a deletion of the 3p25pter region and a 4p16.1 duplication. We performed a karyotype-phenotype correlation in our patient and in the ones previously reported in literature which had a 3p25pter deletion or the 4p16 duplication.

To examine the sensitivity of vitiligo melanocytes to external oxidative stress, we studied enzymatic and non-enzymatic anti-oxidants in cultured melanocytes of normal subjects (n = 20) and melanocytes from apparently normal skin of vitiligo patients (n = 10). The activity of superoxide dismutase and catalase and the intracellular concentrations of vitamin E and ubiquinone were evaluated in cultures at the fourth or fifth passage. In addition, cells were exposed to various concentrations of a peroxidizing agent, cumene hydroperoxide (CUH, 0.66-20 microM), for 1 and 24 h. Compared to normal melanocytes, vitiligo melanocytes showed normal superoxide dismutase and significantly lower catalase activities and higher vitamin E and lower ubiquinone levels. At the concentration used, CUH did not significantly affect cell number or viability of melanocytes after either period of culture. On the contrary, vitiligo melanocytes were susceptible to the toxic effect of CUH after 24 h of continuous treatment at concentrations greater than 6.6 microM. The degree of CUH toxicity correlated strictly with the anti-oxidant pattern, defined as the ratio between vitamin E concentration and catalase activity, suggesting that the alteration in the antioxidants was the basis for sensitivity to the external oxidative stress. Our results demonstrate the presence of an imbalance in the anti-oxidant system in vitiligo melanocytes and provide further support for a free radical-mediated damage as an initial pathogenic event in melanocyte degeneration in vitiligo.

The efficacy and safety of desmopressin (Minirin/DDAVP) treatment compared with imipramine were investigated in a multicentre, open, cross-over design in 57 patients, aged 6-15 years, affected by nocturnal enuresis to establish the best therapeutic approach to this condition. After a two-weeks observation and control period, patients were randomised to one of two groups: intranasal administration of desmopressin, 30 micrograms/day for three weeks, followed by imipramine, 0.9 mg/kg for a further three weeks, or imipramine 0.9 mg/kg for three weeks, followed by desmopressin, 30 micrograms/day for a further three weeks. Following treatment, all patients were observed for a further two weeks. Administration of either treatment protocol resulted in a statistically significant decline in the number of enuretic episodes per week compared to the control. The greater antidiuretic effect observed in the group receiving imipramine followed by desmopressin suggests the two compounds have different profiles. Also, when the treatment period was compared with the follow-up, the antidiuretic effect had a longer duration in the group initially given imipramine. No further improvement was seen when desmopressin was administered first, with a mild worsening of the effect sometimes occurring, suggesting a different carry-over effect between the two treatments. This suggests that desmopressin offers a better approach to the management of nocturnal enuresis.

Two sibs with multiple congenital anomalies and severe mental retardation were found to have a 2q35qter duplication as a result of a balanced maternal translocation. The clinical features of our two cases are compared with those reported in literature as having either a 2q35qter duplication or a wider duplicated segment without the involvement of any other chromosome deletion or duplication. The typical phenotype is described considering the characteristic clinical features as: hypotonia, hypertelorism, short and beaked nose, flat nasal bridge, thin upper lip, micrognathia, low set and dysmorphic ears, clinodactyly finger V and cryptorchidism.

In order to evaluate the free radical defense systems of melanocytes and their possible correlation with melanoma, we have studied in cultured normal human melanocytes (20), normal melanocytes from melanoma patients (15), and melanoma cells (40) the fatty acid pattern of membrane phospholipids as a target of peroxidative damage and the superoxide dismutase and catalase activities, vitamin E, and ubiquinone levels as intracellular antioxidants. Cells were cultured in the same medium and analyzed at III or IV passage. Compared to the values obtained in normal human melanocytes, melanoma cells showed on average: a) higher levels of polyunsaturated fatty acids, b) increased superoxide dismutase and decreased catalase activities, higher vitamin E, and lower ubiquinone levels. Among the normal melanocytes from melanoma patients studied, two groups were differentiated: a) cultures (7) with enzymatic and non-enzymatic antioxidants level similar to those of normal human melanocytes; b) cultures (8) with antioxidant patterns similar to those observed in melanoma cells. Polyunsaturated fatty acids were also increased in the latter group. The results indicate that in melanoma cells and in a percentage of normal melanocytes from melanoma patients, an imbalance in the antioxidant system can be detected that can lead to endogenous generation of reactive oxygen species and to cellular incapability of coping with exogenous peroxidative attacks. These alterations could be correlated with the malignant transformation of cells and with the progression of the disease.

The GRO1 oncogene (melanoma growth-stimulating activity alpha) has been localized in region 4q21. The involvement of this chromosomal region in clonal aberrations found in primary melanoma cell cultures could have an important role in the etiology and pathogenesis of this tumor. We characterized three primary cell cultures obtained from different patients, each of which showed clonal chromosomal aberrations involving the 4q21 region.