Nasu-Hakola disease: a rare entity in Italy. Critical review of the literature

Nasu-Hakola disease (NHD, polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, PLOSL) is a recessively inherited disorder characterized by systemic bone cysts and progressive presenile dementia associated with sclerosing encephalopathy. The disease has a worldwide distribution, but most patients have been reported in Finland and in Japan; in Italy there are anecdotal reports. The combination of neuropsychiatric symptoms and bone cysts is unique to this disease, which we believe to be underestimated in Italy. The molecular defect has been identified in loss-of-function mutations in the TYROBP gene in Finnish and in Japanese patients, and in the TREM2 gene in other families of different ethnic origins. We reviewed the international literature to define better the diagnostic steps and to draw the attention of neurologists and orthopaedic specialists to the disease. The identification of new cases followed by appropriate genetic counselling, genetic analysis, and study of the territorial distribution of affected patients could be a good strategy to follow in order to improve understanding of the disease.     

Beliefs of psychiatric nurses about schizophrenia: a comparison with patients' relatives and psychiatrists

BACKGROUND: What patients' relatives and health professionals think about causes, treatments and psychosocial consequences of schizophrenia can influence its detection and outcome. AIMS: To compare the beliefs about schizophrenia in 190 nurses, 110 psychiatrists and 709 relatives of patients with this mental disorder, recruited in 30 randomly selected mental health centres. METHODS: In each centre, the key-relatives of the first consecutive 25 subjects with schizophrenia, and the nurses and psychiatrists who had been working in the service for at least one year, were asked to complete the Questionnaire on the Opinions about Mental Illness (QO). RESULTS: The factors most frequently mentioned by psychiatrists and nurses among the causes of schizophrenia were heredity, stress and family conflicts, while those most frequently mentioned by relatives were stress, traumas and love breakdown. Nurses had opinions: (a) similar to those expressed by psychiatrists concerning patients' ability to work equally as other people, and patients' punishability in case of illegal acts; (b) similar to those expressed by relatives about patients' unpredictability and political rights; (c) significantly different from the other two samples as concerns recognition of patients' affective rights. CONCLUSIONS: Family psychoeducational interventions and nurses' training should address not only clinical aspects but also disability and psychosocial consequences of schizophrenia.     

Ropinirole in the treatment of restless legs syndrome: results from the TREAT RLS 1 study, a 12 week, randomised, placebo controlled study in 10 European countries

OBJECTIVE: To assess the efficacy, safety, and tolerability of ropinirole in the treatment of patients with restless legs syndrome. METHODS: A 12 week, prospective, double blind, randomised comparison involving 284 patients from 10 European countries. All participants had a score of > or =15 on the international restless legs scale (IRLS). Patients were randomised (1:1) to receive either ropinirole 0.25-4.0 mg once daily or placebo. The primary efficacy end point was mean change from baseline to week 12 in total IRLS score. Global improvements (clinical global impression (CGI) scale) and improvements in sleep, health related quality of life (QoL; using generic and disease specific measures), work, and other activities were also assessed. RESULTS: 112/146 patients (76.7%) taking ropinirole and 109/138 (79.0%) taking placebo completed the study. Improvement in IRLS at week 12 with ropinirole (mean (SD) dose, 1.90 (1.13) mg/day) was greater than with placebo (mean (SE): -11.04 (0.719) v -8.03 (0.738) points; adjusted difference = -3.01 (95% confidence interval (CI), -5.03 to -0.99); p = 0.0036). More patients in the ropinirole group (53.4%) showed improvement on the CGI scale at week 12 than in the placebo group (40.9%; adjusted odds ratio = 1.7 (1.02 to 2.69); p = 0.0416). Significant differences on both IRLS and CGI scales favouring ropinirole were apparent by week 1. Ropinirole was also associated with significantly greater improvements in sleep and QoL end points. The most common adverse events were nausea and headache. CONCLUSIONS: Ropinirole improves restless legs syndrome compared with placebo, with benefits apparent by week 1. It is generally well tolerated.     

Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants

A1A2 Na+/K+-ATPase mutations cause familial hemiplegic migraine type 2 (FHM2). The authors identified three putative A1A2 mutations (D718N, R763H, P979L) and three that await validation (P796R, E902K, X1021R). Ten to 20% of FHM cases may be FHM2. A1A2 mutations have a penetrance of about 87%. D718N causes frequent, long-lasting HM, and P979L may cause recurrent coma. D718N and P979L may predispose to seizures and mental retardation. A1A2 does not play a major role in sporadic HM; only one variant, R383H, occurred in 1 of 24 cases.     

Acute liver damage in anorexia nervosa

We report a case of a 26-year-old White woman with a history of anorexia nervosa who developed severe liver damage and multiorgan dysfunction. At admission to our medical unit, her body mass index (BMI) was 10.8. Biochemical evaluation showed a marked increase in serum levels of aspartate aminotransferases (AST = 9,980 IU/L), alanine aminotransferase (ALT = 3,930 IU/L), amylase (1,002 IU/L), lipase (1,437 IU/L), creatine phosphokinase (CPK; 783 IU/L), and lactate dehydrogenase (LDH = 6,830 IU/L). Glomerular filtration rate was reduced (35 ml/min), reflecting dehydration and prerenal azotemia. No other cause of acute liver damage except malnutrition was evidenced. Hydration and nutritional support were the unique medical treatment. A rapid recovery occurred in few days and all laboratory data were normal at discharge after a 37-day hospitalization.     

High mobility group A1 expression correlates with the histological grade of human glial tumors

Glioblastoma is one of the most aggressive tumors in mankind with 50% of patients dying within the 1st year of diagnosis, and being refractory to conventional therapies. The aim of our work has been to analyse the expression of the HMGA1 proteins in human astrocytomas and glioblastomas in order to verify whether the detection of these proteins might be of some help in the diagnosis of these neoplasias. Here we report the analysis of 27 cases, including 12 astrocytomas and 15 glioblastomas, for HMGA1 expression. All the neoplastic samples showed positive staining even though the number of positive cells and the staining intensity was higher in glioblastomas compared to astrocytomas. Conversely, HMGA1 proteins were not detected in normal brain. Accordingly, expression of the hmga1 gene, analysed by RT-PCR, was higher in glioblastomas than in astrocytomas.     

Blood withdrawal and infusion via umbilical catheters: effect on cerebral perfusion and influence of ibuprofen

Withdrawal and infusion of blood via umbilical catheters can affect cerebral blood flow in preterm infants. We compared the effects on cerebral perfusion of 3 ml/kg blood withdrawal and infusion via umbilical arterial (UAC) and venous (UVC) catheters in 16 infants < or =32 weeks gestation, age <24 h, on mechanical ventilation. Near infrared spectroscopy was used to monitor changes in cerebral oxy- and deoxyhemoglobin, total cerebral hemoglobin (an index of cerebral blood volume; CBV) and HbD (an index of cerebral intravascular oxygenation). In 10 infants the study was repeated 1 h after intravenous administration of 10 mg/kg ibuprofen as prophylaxis against PDA. Withdrawal and infusion via the UVC caused significant MABP and concordant HbD and CBV changes. Smaller modifications were seen following blood withdrawal and infusion via the UAC. Ibuprofen attenuated cerebral hemodynamic changes associated with withdrawal, but not infusion, from UAC and UVC.     

Transvaginal hydrolaparoscopic ovarian drilling using bipolar electrosurgery to treat anovulatory women with polycystic ovary syndrome

STUDY OBJECTIVE: To verify the value, feasibility, and reliability of transvaginal hydrolaparoscopic ovarian drilling using the bipolar VersaPoint system to treat clomiphene-resistant, anovulatory women with polycystic ovary syndrome. DESIGN: Prospective clinical study (Canadian Task Force classification II-2). SETTING: University teaching hospital. PATIENTS: Twenty-eight women. INTERVENTION: Transvaginal hydrolaparoscopic ovarian drilling using the bipolar VersaPoint spring electrode. MEASUREMENTS AND MAIN RESULTS: After the surgical procedure, ovulation occurred spontaneously in 66.7% of women. Thirteen pregnancies occurred; eight were spontaneous, and four were achieved after induction of ovulation with clomiphene citrate and one after stimulation with gonadotropins. In 21 women whose infertility was due exclusively to anovulation, the cumulative pregnancy rate was 38% at 3 months and 76% at 6 months. No ovarian hyperstimulation or abortion occurred. The single complication was bleeding from an ovary that required conversion to laparoscopy. CONCLUSION: Transvaginal hydrolaparoscopic ovarian drilling with the bipolar VersaPoint system is a useful therapeutic option in these women.