Biomedical subjects
Publications and source records attributed to J Mallolas.
The authors report the experiments about incubation of uroporphyrinogen with sonified fibroblasts of normal individuals and prophyrics and present the hypothesis of the absence of deficiency in the activity of uroporphyrinogendecarboxylase.
One hundred thirty-three consecutive episodes of Pseudomonas aeruginosa bacteremia were prospectively followed in a university hospital over a 36-month period. The attack rate was 1.8 episodes per 1,000 discharges, and 85% of the episodes were hospital acquired. P. aeruginosa bacteremia represented 13.6% and 25.6% of the episodes of nosocomial bacteremia and gram-negative nosocomial bacteremia, respectively. The crude mortality rate was 50%. A stepwise logistic regression analysis defined four variables as independently influencing the outcome: development of septic shock (P = .00002), a granulocyte count less than 500/mm3 (P = .0008), inappropriate antibiotic therapy (P = .001), and the development of septic metastasis (P = .003). Among them, only the antibiotic treatment is easily amenable to medical intervention in order to improve the prognosis. Consequently, major efforts should focus on prevention and on the development of other therapeutic measures apart from antibiotic treatment.
The diagnostic value of antibody detection by indirect hemagglutination (IHA), indirect immunofluorescence (IFA), and counterimmunoelectrophoresis (CIE) and of Candida albicans mannan antigen detection by latex agglutination was studied in 36 cases of systemic candidiasis in heroin addicts. The IHA and IFA techniques were highly sensitive (97% and 91%, respectively), but their specificity was low (60% and 50%). When a titer of greater than or equal to 1:2,560 was used as a criterion for IHA positivity, the specificity of the test rose to 87%, with sensitivity at 75%. CIE had a high degree of specificity (96%) but a low degree of sensitivity (58%). A good correlation was found between clinical evolution of infection and serologic data. Two of 12 patients who could be followed for 9-16 months had a rise in antibody titer detected either by IFA or by IHA and CIE. These two patients had a persistent chondrocostal tumor and C. albicans endocarditis, respectively. All of the other patients, who were cured, had a decrease in titer detected by IHA and IFA and had negative CIE results at the end of follow-up. Serum mannan antigen was not found in any case. The detection of antibody to C. albicans may be useful for diagnosis and follow-up of such patients.
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INTRODUCTION: PKU is an autosomal recessive disorder. There is a broad spectrum phenotype which depends mainly on residual enzymatic activity and also on other factors such as modifying genes and non-genetic factors. This fact makes us consider that a multidisciplinary study of these patients is necessary to improve knowledge of the condition. OBJECTIVE: To establish phenotype-genotype correlation and classify nine new mutations according to severity. PATIENTS AND METHODS: We evaluated the clinical data obtained from a multidisciplinary trial of 11 patients with PKU/HPA who presented with nine new mutations (P275S, P279fsdelC, V388delTG, N61/I62/T63fsdel5bp, P281S, P362T, H1OOR, I164V and Y168H) identified during a molecular study of the PAH gene done in Catalonia (Spain). RESULTS AND CONCLUSION: In our patients the genotype is correlated with the biochemical phenotype whereas the cognitive phenotype depends on determining factors such as early diagnosis and diet. Therefore, although PKU may be considered to be a complex characteristic, the mutations in the PAH gene are the main determining factor of the metabolic phenotype of PKU. A multidisciplinary study is the best way to understand and control these patients.
OBJECTIVE: To assess the clinico-pathological profile of symptomatic myopathies developing in HIV-1 infected patients before use of any antiretroviral therapy. DESIGN: Prospective, cross-sectional study. SETTING: University-referral, tertiary care Hospital. PATIENTS: Thirty consecutively admitted, HIV-1 infected patients untreated with antiretrovirals and with clinically suspected skeletal myopathy or raised serum creatinkinase levels. INTERVENTIONS: Clinical assessment of muscle strength and open muscle biopsy regarding to histopathological features. RESULTS: Most of the HIV-1 infected patients were weaker when compared to the matched healthy control group. Only a few patients presented with myalgia. In one third of the cases an inflammatory condition (microvasculitis, myositis) was evident. In another third minor myopathic changes were observed, while in the remaining cases muscle biopsy was normal. Abnormal values of CK correlated poorly with pathologic diagnosis. CONCLUSIONS: In a significant proportion of HIV-1 infected symptomatic patients a specific treatment can be given when the existence of an inflammatory condition is diagnosed by muscle biopsy.