Phaeohyphomycotic cutaneous disease caused by Pleurophoma in a cardiac transplant patient

A 56-y-old female cardiac transplant patient treated with cyclosporine and prednisone noted the onset of three nontender red nodules on the legs and arms after gardening. Biopsy of all lesions revealed inflammatory cells and hyphal elements in the dermis. The dematiaceous fungus cultured from biopsy tissue was a pycnidial-forming organism of the genus Pleurophoma. The lesions responded to the topical application of miconazole.     

Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB).

PDB is genetically heterogeneous. Mutations of the sequestosome1 gene have been reported in sporadic and familial forms of Paget's in patients of French Canadian and British descent. Mutational analyses in different ethnic groups are needed to accurately investigate hereditary diseases. We describe two novel mutations of sequestosome1 in 62 Italian sporadic patients, confirming the role of the encoded protein in this disorder. INTRODUCTION: Paget's disease of bone (PDB) is a relatively common disease of bone metabolism reported to affect up to 3% of whites over 55 years of age. The disorder is genetically heterogeneous, and at present, there is scientific evidence that at least eight different human chromosomal loci are correlated with its pathogenesis. Mutations of the sequestosome1 (SQSTM1) gene were identified as responsible for most of the sporadic and familial forms of Paget in patients of French Canadian and British descent. Such mutations were located at exon 7 and 8 levels, encoding for the ubiquitin protein-binding domain (UBA) and representing a mutational hot spot area. MATERIALS AND METHODS: To verify the involvement of this gene in Italian subjects affected by PDB, we performed mutational analysis in 62 sporadic PDB cases. RESULTS: We described three different mutations at exon 8 level: P392L, already described in the French Canadian population and families predominantly of British descendent, and two novel mutations consisting of the amino acid substitutions M404V and G425R. No significant differences in the clinical history of PDB have been observed in patients with SQSTM1 mutations in respect to those without. CONCLUSIONS: Even though our findings suggest a minor involvement of the SQSTM1 gene in the pathogenesis of sporadic Italian Paget's cases, the identification of different significant mutations within the SQSTM1 gene in unrelated, but clinically similar individuals, offers extremely convincing evidence for a causal relationship between this gene and PDB. Longitudinal studies are needed to assess the penetrance of genotype/phenotype correlations. Our findings confirm the evidence of a clustered mutation area at this level in this disorder.     

Chronic peritoneal dialysis in paediatrics: Experience of a national registry

The results of the first 3 year' collaboration of the Italian Registry of Paediatric Chronic Peritoneal Dialysis (CPD) (1986–1988) are presented. This Registry acquired data on the majority of the paediatric patients treated with CPD in Italy, thus providing a national picture in a field where few nationwide surveys are available. Patients of less than 15 years of age at the start of dialysis were enrolled and clinical data collected until the age of 19 years. The number of nephrological paediatric centres participating in the Registry increased from 7 in 1986 to 11 in 1988. The total number of patients on CPD was 70 and the percentage of dialysed children treated with CPD ranged from 40.2% to 43.6%. Data on 89 peritoneal catheters were collected: during 1417 dialysis-months 70 catheter-related complications were observed (1:20.8 dialysis-months); actuarial catheter survival was 92.7% at 6 months, 84.8% at 1 year and 68.8% at 2 years. The incidence of peritonitis changed from 1 episode every 10.9 patient-months in 1986 to 1 every 19.8 in 1988. Abdominal hernias were the other main clinical complication observed. The survival of patients was 92.5% at 3 years, while the technique survival at the same time was 84%.     

Progressive knowledge loss: a longitudinal case study.

The evolution of the progressive loss of semantic knowledge of a patient, VZ, with lesions mainly affecting the infero-medial temporal lobes, was followed for two years. At the beginning of the study VZ's performance was mainly characterized by a category-specific deficit for living things and a modality-specific deficit for perceptual attribute knowledge. As time went on, VZ's disorder affected all categories by changing the relationship between category and attribute knowledge. Data show that dissociations may change in the course of progressive cognitive breakdown, depending on both degeneration stage and task demands. VZ's performance is discussed in the light of the most influential theoretical accounts. Methodological suggestions regarding longitudinal studies of degenerative patients are also put forward.     

Systemic fungemia and hepatic localizations of Fusarium solani in a liver transplanted patient: an emerging fungal agent.

The incidence of invasive fungal infection is increasing especially in the field of transplantation, affecting as many as 50% of bone marrow transplant (BMT) patients with neutropenia and 5-20% of solid-organ transplant (SOT) recipients. Fusarium species are soil saprophytes and plant pathogens. They may cause superficial mycoses or important opportunistic infections in patients with bone marrow suppression and neutropenia, they have been rarely described in solid organ recipients, and up to now there have been no reports of such infection in isolated liver transplanted patients. We describe a case of disseminated Fusarium solani infection with hepatic localization in a liver transplanted patient that resolved with the administration of amphotericin B. Our observation confirms that Fusarium spp. are emerging pathogens that may most frequently affect not only BMT patients and patients with hematological malignancies, but also SOT patients. They may cause both localized and disseminated infection. In conclusion, Fusarium spp. etiology should be considered in the context of infectious diseases following liver transplantation.     

Temporal Lobe Epilepsy in Children: Electroclinical Study of 77 Cases

Summary:  Purpose: Temporal lobe epilepsy (TLE) is probably more difficult to recognize in children than in adults. In fact, ictal symptoms in children are less stereotyped and less obvious, and the neuropathological substrate is more heterogeneous than in adults. The aim of this study is to examine the relationships between etiology, age at onset and electroclinical findings in 77 children with TLE, 32 of whom were surgically treated.
Methods: Electroclinical study including video-EEG recording of seizures in 77 children with TLE. The investigation focused on the first five initial ictal symptoms.
Results: Age at onset was less than 3 years in 39 cases, between 3 and 6 years in 17 cases and older than 6 years in 21 cases. Auras also occurred in younger children but were more common after the age of 6 years. A peculiar initial ictal semiology consisted in staring with arrest, lip cyanosis, and very slight oral automatisms. In some cases, EEG recordings documented seizures starting independently on both temporal lobes. Based on electroclinical and neuroradiological features, we recognized three subgroups: symptomatic TLE due to cortical malformations or nonevolutive tumors, TLE with mesial temporal sclerosis, and cryptogenic TLE.
Conclusions: A correct electroclinical and neuroradiological approach allows in several cases early recognition of TLE even when onset is earlier than the age of 6 years. A correct definition of the localization relies primarily on video-EEG recording of the seizures, possibly repeated during follow up in cases lacking obvious neuroradiological correlation.     

Incontinence pad use in patients admitted to medical wards: an Italian multicenter prospective cohort study.

PURPOSE: The purpose of the study was to evaluate the incidence of incontinence pad use among patients admitted to medical wards, the reasons why nurses decide to use an incontinence pad, the extent to which the use of pads is avoidable, and the outcome of inappropriate pad use after discharge from the hospital. METHODS: A prospective cohort study was conducted; patients admitted to medical wards were observed during hospitalization and a 7-day follow-up period after discharge. SUBJECTS AND SETTING: The study was conducted in 2 acute-care units in Northern Italy. All new patients admitted to the units were recruited. RESULTS: At the time of admission to the hospital, in addition to the 120 patients who already used incontinence pads, there was a 34% incidence of new cases (98/286). The most frequent reason why nurses decided to use this aid was incontinence caused by space-time disorientation, followed by limited mobility, incontinence, patient request, nursing shortage, and involuntary urine leakage not perceived by patient. Seventy patients out of 208 used incontinence pads unnecessarily for a total of 544 days. CONCLUSIONS: Decisions about the use of the incontinence pads are not always consistent with research-based or literature-based suggestions. Nurses should develop clinical guidelines or protocols for the appropriate use of incontinence pads.     

Predictors of punding in Parkinson's disease: results from a questionnaire survey.

Dopamine replacement therapy (DRT) for Parkinson's disease (PD) has recently been linked to the development of a number of nonmotor behavioral control problems. Punding, one of these nonmotor problems, is a term used to describe complex, purposeless stereotyped behaviors such as the repetitive handling or sorting of objects. A self-report questionnaire was adapted to assess punding in the context of dysfunctional hobby-related activities. We report the results of a survey of PD outpatients from a PD research clinic (n = 141) and non-PD controls (n = 103); conducted to identify clinical and psychological factors predictive of punding behaviors. The PD group reported hobbies and activities, which scored significantly higher on the Punding Scale than controls. Higher impulsivity, poorer disease-related quality of life, younger age of disease onset, and concomitant daily medication dosage from dopamine receptor agonists were independently predictive of higher Punding Scale scores in the PD group. These findings are similar to those seen in dopamine dysregulation syndrome, and provide further evidence for the role of impulsivity and age at disease onset in DRT-related nonmotor behavioral problems in PD.