X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype

Skewed X chromosome inactivation (XCI) has been implicated in modulating the severity of Rett syndrome (RTT), although studies by different groups have yielded conflicting results. In this study we have characterised the XCI pattern in various neuroanatomical regions of nine RTT brains and non-neural tissue in two of these patients to determine whether or not variable XCI patterns occur in different brain regions or somatic tissues of the same patient. The mean XCI patterns for frontal and occipital cortex were compared between RTT and control subjects, and showed no significant differences when comparing RTT frontal to control frontal cortex or RTT occipital to control occipital cortex. However, one RTT subject displayed variability across the different neuroanatomical regions of the brain and skewing in some non-neural tissues. This observation adds another dimension to the epigenetic factors that may contribute to the phenotype in RTT. It also mandates that caution should be exercised in factoring XCI, including assumptions based on the blood XCI pattern, into the development of phenotype-genotype correlations.     

Actinomycotic liver abscess. Case report and review of the literature

Actinomycosis is a chronic suppurative, granulomatous disease, which is characterized clinically by extensive necrosis and abscess formation, and histologically by the presence of the so-called "sulphur granules". Actinomycosis is generally classified as being of cervicofacial, thoracic or abdominal type. The objective of this study is the presentation of a case of actinomycotic liver abscess that we encountered in our department 5 years ago, along with a brief review of this rare disease. A 39-year-old male non-Greek Caucasian patient presented with high fever, malaise, anorexia, vomiting after food ingestion and right upper quadrant pain. Leucocytosis with a left shift was present, and ultrasonography demonstrated a mass of mixed composition in the anterior part of the right hepatic lobe, measuring 6.8 x 4.6 cm, suggestive of an abscess or haemangioma. MRI scan confirmed the presence of a space-occupying lesion, suggestive of an abscess. The patient was submitted to surgical drainage of the hepatic abscess. The culture of the purulent material was found to be sterile, while the histochemical examination of the specimen demonstrated the presence of actinomycosis. The patient had an uneventful postoperative course and after discharge received prolonged chemoprophylaxis. Actinomycotic liver abscess is a very rare clinical entity, and only 57 cases have been reported in the English literature. Due to the rarity of the disease and the limited number of reported cases, we considered it useful to report this case.     

Soleus accessorius, an anomalous muscle in a young athlete: case report and analysis of the literature

The soleus accessory muscle is a rare anatomical variation. It usually appears as a soft tissue mass and may be mistaken for a tumour or an inflammatory lesion. The differential diagnoses include ganglion, lipoma, haemangioma, synovioma, and sarcoma. This is a report of such a muscle mass in the leg of a young athlete with 16 years follow up. A review of the English literature on this subject is also presented.     

Inferior subluxation of the fibular head following tibial lengthening with a unilateral external fixator

BACKGROUND: Inferior subluxation of the proximal part of the fibula has been reported to occur with distraction osteogenesis of the tibia; however, the clinical sequelae of this subluxation are unknown. The purpose of this study was to evaluate inferior subluxation of the proximal part of the fibula and its possible clinical implications in patients who had undergone tibial lengthening by distraction osteogenesis with use of a unilateral external fixator. METHODS: Thirty tibiae in seventeen patients with a variety of conditions underwent tibial lengthening by distraction osteogenesis with use of a unilateral external fixator and were followed clinically and radiographically for a mean of two years and ten months (range, two to four years). Ten patients were female and seven were male. Their mean age at the time of the surgery was seventeen years (range, eight to twenty-five years). The mean tibial lengthening was 8.1 cm (range, 3.5 to 13 cm). RESULTS: An inferior shift of the fibular head in relation to the tibia was evident in all cases. The shift, which ranged from 0.4 to 3.3 cm, was proportionally related to the amount of tibial lengthening. This type of subluxation is probably attributable to the tension that is exerted by the intact interosseous membrane during the distraction as well as to the tension of the regenerated bone of the fibula and the fact that the fibula itself is not fixed or directly lengthened by the external fixator. CONCLUSIONS: It appears that inferior subluxation of the fibula is a common phenomenon in patients undergoing tibial lengthening by distraction osteogenesis with use of a unilateral external fixator. However, no clinical symptoms or findings related to the inferior subluxation of the fibula were found in our series.     

Sex hormones and biogenic amine turnover of sex offenders in relation to their temperament and character dimensions

Relationships between Cloninger's temperament and character dimensions and plasma sex hormone levels and biogenic amine turnover were studied in male prison inmates convicted of rape (n=61) or child molestation (n=24) and normal male controls (n=25). The participants completed the Temperament and Character Inventory (TCI), which includes the temperament dimensions Novelty Seeking, Harm Avoidance, Reward Dependence and Persistence as well as the character dimensions Self-Directedness, Cooperativeness and Self-Transcendence. Plasma levels of testosterone, dihydrotestosterone, sex hormone binding globulin, luteinizing hormone (LH) and follicle-stimulating hormone were estimated in plasma samples and 5-hydroxyindoleacetic acid (5-HIAA), homovanillic acid (HVA), and 3-methoxy-4-hydroxyphenylglycol (MHPG) in urine samples. Both sex offender groups had higher Novelty, Seeking and lower Reward Dependence, Self-Directedness and Cooperativeness scores compared with the controls. Plasma levels of testosterone and dihydrotestosterone were significantly higher in rapists than in controls. Novelty Seeking scores were positively correlated with LH levels in rapists, and with testosterone levels in child molesters. Harm Avoidance scores were negatively correlated with 5-HIAA levels in rapists and with HVA levels in child molesters. In rapists, the calculated free androgen index showed a negative correlation with 5-HIAA. For the sex offender sample as a whole, the subgroup with high testosterone levels had higher Harm Avoidance scores, the subgroup with low HVA levels had lower Cooperativeness scores, and the subgroups with high 5HIAA or MHPG levels had lower Persistence scores. The results indicate that Novelty Seeking behavior in the group of rapists is associated with a hyperactive hypothalamic-pituitary-gonadal axis. In addition, low serotonin turnover and low dopamine turnover seem to be associated with a passive-avoidant behavioral style in rapists and child molesters, respectively.     

Mirtazapine improves alcohol detoxification

The objective of the present study was to determine whether a combined psychotherapeutic-psychopharmacological (with mirtazapine) treatment of collateral anxiety and depressive symptomatology during the post-withdrawal phase of alcoholism facilitates the process of alcohol detoxification, which is a decisive stage in the treatment of alcohol-dependent individuals. For that purpose, the rate of remission of anxiety and depressive symptoms over a 4-week detoxification period was evaluated between two groups: the first group followed a standard detoxification protocol (n = 33) and the second group was assigned to mirtazapine in addition to standard treatment (n= 35). A marked reduction of anxiety and depressive symptoms was demonstrated in both groups. However, patients on mirtazapine improved more and at a faster rate compared to controls. Thus, mirtazapine, used adjunctively to short-term psychotherapy, may help the detoxification process by minimizing physical and subjective discomfort. Consequently, it may improve patient compliance in alcohol detoxification programs and facilitate the initial phase treatment of alcohol abuse dependence.     

Clinical approach to inborn errors of metabolism presenting in the newborn period

Inborn errors of metabolism are individually rare, but collectively are responsible for significant levels of paediatric morbidity and mortality. More than 400 biochemically diverse inborn errors of metabolism have been identified. Recent advances in the diagnosis and treatment of these disorders have substantially improved the prognosis for many of them. Paediatricians and neonatologists play a vital role in identifying which patients need to be investigated. The diagnosis of an inborn error of metabolism often needs to be established quickly in order to prevent death or permanent neurological sequelae, and this should be carried out in collaboration with a specialized unit. The present review provides a practical approach to the recognition and investigation of neonates in whom an inborn error may be present. We also provide guidelines for the stabilization and initial management of infants at high risk of a metabolic disorder.