Ethmoid sinus osteoma with orbital invasion: report of three cases and review of the literature

We report three rare cases of ethmoid osteoma extending to the medial quadrant of the orbit that had singular particularities, such as occurring in women, at an unusual age group, and complaint of epiphora. The radiographic images were typical of this condition. Patients were submitted to surgery with complete resolution of the disease.     

Characterization of haemophilus influenzae isolated from invasive disease in Brazil from 1990 to 1999

The Haemophilus influenzae serotype b (Hib) conjugate vaccine was introduced in the National Immunization Program in Brazil in the second half of 1999. A retrospective analysis on serotypes, biotypes, and antimicrobial resistance of Hi invasive strains obtained through Hi survey was conducted to document the characteristics of this pathogenic agent during a decade prior the use of Hib vaccine. A total 3,204 strains from 1990 to 1999 were studied, being 88.2% isolated from cerebrospinal fluid, 10.7% from blood, and 1.1% from pleural fluid. The rate of 90.9% of strains was obtained from children up to 4 years old, and the age group >6 months old to 1 year was the higher risk to Hi infection. Type b was, by far, the most common type (97.8%), followed in frequency by type a (0.5%); only 1.5% was a nontypable strain. Biotypes I and II accounted for 97.8% of isolates. Resistance to ampicillin (AM) and chloramphenicol (CO) was detected at rates of 18.1% and 19.1%, respectively, whereas simultaneous resistance to AM and CO was identified in 13.9% of strains. Total concordance was found between AM resistance and beta-lactamase production. No strain showed resistance to ceftriaxone and rifampicin. In conclusion, the data generated through this laboratory-based surveillance should serve as a reference for assessing the impact of Hib vaccination and to detect changes on the pattern of Hi diseases in the country.     

Outpatient Parenteral Antibiotic Therapy (OPAT): the Italian registry

In the early eighties, in the US the advantages (reduced costs, no hospitalisation trauma in children, no immobilization syndrome in elderly, reduction of nosocomial and acquired infections by multi-resistant organisms) of OPAT were identified and suitable therapeutic programs were established. Following the US experience, other countries set up their own OPAT programs which vary considerably from country to country because of different ways in which infections are managed in different parts of the world and because of different reimbursement systems. In order to understand the ways of managing OPAT and its results, a National OPAT Registry was set up in 1999 in Italy belonging to a wider International OPAT database, which collects data also from USA, Canada, Spain, Uruguay and Argentina. Up to now 396 patients and as many antibiotic courses have been included in the National Registry by eight different centres. The analysis of data permits to get information about the criteria of patient's selection, treatment (route of administration, site of care, choice of antibiotic, dosage and duration), outcomes and possible side-effects. Italian results offer a quite peculiar picture of OPAT in this country when comparing data with those of other countries. In contrast with other countries where soft tissue infections and osteomyelitis are the most frequent diagnoses for including patients in OPAT programmes, in Italy pneumonia and bronchitis are the top two amenable infections. Ceftriaxone, Teicoplanin and Amikacin are absolutely the top three antibiotics selected for OPAT in Italy which confirm that a single daily dose regimen represents a great advantage in terms of compliance. Finally, a large percentage of antibiotic courses (50%) are carried out by using the i.m. administration route, which is very unusual in other countries. OPAT Registry is still ongoing and it will give us more detailed information in the future about the management of infections in the outpatient setting, but it already permits to define an actual picture of OPAT in our country and/or to compare and correlate data and information from different countries.     

Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype

Mutations in the EPM2A gene encoding a dual-specificity phosphatase (laforin) cause an autosomal recessive fatal disorder called Lafora's disease (LD) classically described as an adolescent-onset stimulus-sensitive myoclonus, epilepsy and neurologic deterioration. Here we related mutations in EPM2A with phenotypes of 22 patients (14 families) and identified two subsyndromes: (i) classical LD with adolescent-onset stimulus-sensitive grand mal, absence and myoclonic seizures followed by dementia and neurologic deterioration, and associated mainly with mutations in exon 4 (P = 0.0007); (ii) atypical LD with childhood-onset dyslexia and learning disorder followed by epilepsy and neurologic deterioration, and associated mainly with mutations in exon 1 (P = 0.0015). To understand the two subsyndromes better, we investigated the effect of five missense mutations in the carbohydrate-binding domain (CBD-4; coded by exon 1) and three missense mutations in the dual phosphatase domain (DSPD; coded by exons 3 and 4) on laforin's intracellular localization in HeLa cells. Expression of three mutant proteins (T194I, G279S and Y294N) in DSPD formed ubiquitin-positive cytoplasmic aggregates, suggesting that they were folding mutants set for degradation. In contrast, none of the three CBD-4 mutants showed cytoplasmic clumping. However, CBD-4 mutants W32G and R108C targeted both cytoplasm and nucleus, suggesting that laforin had diminished its usual affinity for polysomes. Our data, thus, represent the first report of a novel childhood syndrome for LD. Our results also provide clues for distinct roles for the CBD-4 and DSP domains of laforin in the etiology of two subsyndromes of LD.     

Tophaceous gout presenting as a dorsal nasal lump

A literature review reveals that gout has been described as affecting many sites in the head and neck region, both in the arthritic and tophaceous form. Gout can often mimic malignancy or infection, and has been described as causing acute airway problems requiring emergency tracheotomy. Here we describe the first published case of tophaceous gout affecting the soft tissues overlying the nasal bones. The patient presented with a bony, hard, dorsal hump and requested aesthetic rhinoplasty. We also describe an endoscopic technique for removal of tophi using a powered microdebrider system with a protected burr head. Endoscopic powered microdebrider blade excision of tophi affecting the limbs has already been described, with reduced complications when compared with conventional curettage and debridement techniques. This is the first such application to the nose.     

Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome

Two siblings (brother and sister) with renal tubular hypokalemic alkalosis underwent clinical, biochemical and molecular investigations. Although the biochemical findings were similar (including hypokalemia, metabolic alkalosis, hyperreninemia, hyperaldosteronism and normal blood pressure), the clinical findings were different: the boy, who also presented syndromic signs, developed glomerular proteinuria and renal biopsy revealed focal segmental glomerular sclerosis; the girl showed the typical signs of classic Bartter syndrome. As described in a previous paper, a heterozygous mutation (frameshift 2534delT) was demonstrated in the gene encoding the thiazide-sensitive NaCl co-transporter (SLC12A3) of the distal convoluted tubule; the second molecular analysis revealed a compound heterozygous mutation (A61D/V149E) in the CLCNKB chloride channel gene in both subjects, inherited in trans from the parents. The children were finally diagnosed as having classic Bartter syndrome. These cases represent the first report of the simultaneous presence of heterozygous and compound heterozygous mutations in the SLC12A3 and CLCNKB genes, both of which are involved in renal salt losing tubulopathies, and confirm previous observations regarding classic Bartter syndrome phenotype variability in the same kindred.     

Visual analysis of antepartum fetal heart rate tracings: inter- and intra-observer agreement and impact of knowledge of neonatal outcome

OBJECTIVE: To evaluate the inter- and intra-observer agreement of visual analysis of fetal heart rate tracing and to evaluate the bias introduced by knowledge of perinatal outcome in this interpretation. METHODS: One hundred tracings were independently analyzed by four observers. In a second study period, two observers re-analysed the 100 tracings in order to evaluate intra-observer agreement. The other two observers re-analyzed the tracings, which were labelled with fictitious perinatal outcome to evaluate the impact of this information on reliability. Agreement was analyzed by means of the proportion of agreement for qualitative parameters and the inter- and intra-class correlation coefficient for quantitative data. RESULTS: Poor agreement was found for quantitative variability, low variability category and number of decelerations. Moderate agreement was observed for baseline, normal variability category and number of accelerations. Fetal heart rate variability and number of accelerations and decelerations were found to be significantly influenced by clinical information of perinatal outcome. Biased observers showed lower reliability than unbiased ones. CONCLUSION: Visual assessment of fetal heart rate tracings is unreliable due to low rates of agreement between and within observers. Only qualitative classification such as normal baseline and normal variability showed good agreement. Knowledge of clinical information introduces subjectivity to the visual analysis, leading to a negative impact on reliability.     

The "50-50 criteria" on postoperative day 5: an accurate predictor of liver failure and death after hepatectomy

OBJECTIVE: To standardize the definition of postoperative liver failure (PLF) for prediction of early mortality after hepatectomy. SUMMARY BACKGROUND DATA: The definition of PLF is not standardized, making the comparison of innovations in surgical techniques and the timely use of specific therapeutic interventions complex. METHODS: Between 1998 and 2002, 775 elective liver resections, including 69% for malignancies and 60% major resections, were included in a prospective database. The nontumorous liver was abnormal in 43% with steatosis >30% in 14%, noncirrhotic fibrosis in 43%, and cirrhosis in 12%. The impact of prothrombin time (PT) <50% and serum bilirubin (SB) >50 micromol/L on postoperative days (POD) 1, 3, 5, and 7 was analyzed. RESULTS: The lowest PT level was observed on postoperative day (POD) 1, while the peak of SB was observed on POD 3. These 2 variables tended to return to preoperative values by POD 5. The median interval between hepatectomy and postoperative death was 15 days (range, 5-39 days). Postoperative mortality significantly increased in patients with PT <50% and SB >50 microml/L. The conjunction of PT <50% and SB >50 micromol/L on POD 5 was a strong predictive factor of mortality. In patients with significant morbidity, this "50-50 criteria" was met 3 to 8 days before clinical evidence of complications. CONCLUSIONS: The association of PT <50% and SB >50 microml/L on POD 5 (the 50-50 criteria) was a simple, early, and accurate predictor of more than 50% mortality rate after hepatectomy. This criteria could be identified early enough, before clinical evidence of complications, for specific interventions to be applied in due time.