Severe pneumococcal meningitis heralding a deep hypogammaglobulinaemia related to common variable immunodeficiency, at the age of 27 years

Common variable immunodeficiency with an associated broad immunoglobulin (0.7%) deficit affecting all subclasses, was revealed in a 27-y-old previously healthy female, upon development of a severe pneumococcal meningitis. We report the third case of purulent meningitis complicating this primary immunodeficiency, and the second due to Streptococcus pneumoniae. Clinicians should maintain an elevated suspicion for congenital immunodeficiency, especially when observing adult patients with a negligible prior history.     

Lipoprotein(a)-associated atherothrombotic risk in hemodialysis patients

BACKGROUND: Hemodialysis patients show a considerably higher risk of atherothrombotic disease than the general population. We investigated both lipoprotein(a) [Lp(a)] plasma levels and apolipoprotein(a) [apo(a)] phenotypes in relation to occurrence of atherothrombotic events in hemodialysis patients compared with subjects showing a normal kidney function. Methods: Lp(a) levels and apo(a) isoforms were determined in 118 hemodialysis patients, including 59 with prior atherothrombotic events, and in 182 subjects with normal creatinine clearance, including 82 who experienced a prior atherothrombotic event. Results: Lp(a) levels in hemodialysis patients (median; 20 mg/dl) were higher (p < 0.01) than in age- and sex-matched subjects with normal renal function without a history of atherothrombosis (11.3 mg/dl). Among hemodialysis patients, median Lp(a) levels were higher in subjects with than in those without prior atherothrombosis (34 vs. 15 mg/dl, p < 0.05). In hemodialysis patients and in subjects without nephropathy, the percentage of low-molecular-weight apo(a) phenotypes were significantly higher in patients with than in those without a history of prior atherothrombotic events (56.9% vs. 33.9%, p < 0.05; 62.2% vs. 25%, p < 0.00001,respectively). Stepwise regression analysis indicated that the presence of at least one apo(a) isoform of low molecular weight was an independent predictor of atherothrombosis in hemodialysis patients (p < 0.05). Conclusions: Elevated Lp(a) plasma levels appear to be associated with atherothrombosis, independent of their origin due to genetic factors or related to the impaired kidney function. Low-molecular-weight apo(a) isoforms are reliable genetic markers of atherothrombosis both in patients with impaired kidney function and in subjects without nephropathy.     

Metastasis of hepatocellular carcinoma to the heart: a case report and review of the literature

Hepatocellular carcinoma (HCC) with extension or metastasis to the right atrium is an uncommon form of cardiac malignancy. This report describes a rare case of right intraventricular metastasis from HCC in a patient who had undergone a partial hepatectomy for HCC more than two years earlier. Open heart surgery was performed and the mass was partially excised. Symptoms (dyspnea, edema of the lower extremities, palpitations) improved after surgery. Two months later a recurrence of the ventricular mass was observed. Systemic chemotherapy with cisplatin and doxorubicin resulted in significant tumor reduction. The patient died of progressive hepatic failure six months later. In addition to this case report, a review of the literature on heart involvement from HCC is presented.     

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.     

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.