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C Fortuny

Publications and source records attributed to C Fortuny.

13 recordsLinked to original sources

Low serum carnitine in HIV-infected children on antiretroviral treatment.

OBJECTIVE: HIV-infection and antiretroviral therapies are associated with energy dysfunction and lipid metabolism in adults. Our aim was to detect a possible carnitine deficiency in HIV-infected children on antiretroviral treatments. We analysed the relation among serum carnitine, its amino-acid precursors (methionine and lysine), clinical evaluation and antiretroviral therapy. DESIGN AND SETTING: Cross-sectional study performed in a tertiary care hospital. SUBJECTS: A total of 79 HIV-infected children on antiretroviral therapy, monitored prospectively in our hospital. INTERVENTIONS: Antiretroviral therapy included nucleoside analogues plus protease inhibitors and/or non-nucleoside analogues. Carnitine was analysed by an enzymatic-spectrometric procedure, and amino acids by ion exchange chromatography. Reference values of carnitine and amino acids were established in apparently healthy children who underwent presurgical analysis for minor surgery. RESULTS: Serum free and total carnitine, acylcarnitines, methionine and lysine were significantly lower in HIV-infected children compared with our reference values for similar ages (P<0.0001; Student's t-test). Low carnitine values were observed in 37% of our HIV-infected children. A significantly positive correlation was observed between serum total carnitine and methionine or lysine (P<0.0001 and P=0.005, respectively; Pearson test). No relation was observed between serum carnitine and clinical stage of HIV infection, immunological or nutritional status or lipodystrophy. Free and total carnitine were significantly lower (P=0.002 and 0.033, respectively) in HIV-infected patients on protease inhibitors (N=56) compared with those on other treatments (N=23). CONCLUSIONS: Low serum carnitine concentration was observed in 37% of our HIV-infected children on antiretroviral therapy. Malabsorption or defective synthesis may also account for the low serum carnitine values detected in these patients.

Adolescent↗

Hyperhomocysteinaemia and folate deficiency in human immunodeficiency virus-infected children.

BACKGROUND: Our aim was the detection of possible deficiencies of folate and cobalamin by the measurement of plasma total homocysteine (tHcy) in 69 human immunodeficiency virus (HIV) -infected children on antiretroviral treatment. We studied the relationship of these vitamins and methionine with tHcy values. MATERIALS AND METHODS: Plasma tHcy was determined by high-performance liquid chromatography with fluorescence detection, folate and cobalamin by competitive protein-binding chemiluminescence, and methionine by ion exchange chromatography. RESULTS: Significant differences were observed between tHcy concentrations in the HIV-infected patients and the reference values for children of similar ages (P < 0.0001). Folate values were significantly lower in HIV-infected children compared with our reference paediatric population (P < 0.0001), but cobalamin concentrations were similar between patients and reference values. A significantly negative correlation was found between tHcy and folate (r = - 0.596; P < 0.0001), and a significantly positive correlation between folate and the methionine : tHcy ratio (r = 0.501; P < 0.0001). Plasma tHcy was significantly higher (P = 0.008), while folate values and methionine : tHcy ratios were significantly lower (P = 0.007 and P = 0.042), in patients on protease inhibitor treatment than in patients on other antiretroviral therapies. CONCLUSIONS: The hyperhomocysteinaemia and low methionine : tHcy ratios observed in our group of HIV-infected children are probably a consequence of the low folate values, which interfere in the remethylation of homocysteine to methionine. Patients on protease inhibitor treatment showed significantly higher plasma tHcy concentrations, and lower folate values and methionine : tHcy ratios, compared with patients on other antiretroviral therapies. Hyperhomocysteinaemia is associated with the risk of premature stroke, which may have adverse consequences in the evolution of disease.

Adolescent↗

Vertical HIV-1 transmission correlates with a high maternal viral load at delivery.

Transmission of HIV-1 from an infected mother to her child occurs in around 20% of cases. Although maternal, immunological, and virological factors have been implicated in transmission, clear association is not yet well defined. For this reason, we have conducted a study to determine the relative contribution of the above-mentioned factors with special emphasis on quantitative viral load. We studied 67 HIV-1-infected mothers during pregnancy and labor and their 69 newborns (two sets of twins) from two university hospitals in Barcelona. Plasma and cell samples were collected at delivery between January 1992 and May 1994, and HIV-1 RNA and p24 in plasma, CD4 cell counts, and tissue culture infectious doses (TCID) were measured. Diagnosis of infection in children was based on persistence of anti-HIV-1 antibodies at 18 months of age, a positive HIV-1 culture or polymerase chain reaction in two separate samples, or presence of signs or symptoms of AIDS before 18 months of age. Results showed a very high relationship between > 10(5)/ml viral RNA copies (odds ratio [OR] 22, 95% confidence interval [CI] 4.4-119.2, p < 0.00001), > 0.5 TCID (OR 17, 95% CI 2.1-139.7, p = 0.001), CDC B + C (OR 3.5, 95% CI 0.98-12.5, p = 0.055), < 400 CD4 cells (OR 4.1; 95% CL 1.1-15.4, p = 0.01) and transmission of HIV-1. In this study, a strong association between mother-to-child transmission of HIV-1 and a high maternal viral RNA load in plasma at delivery is demonstrated. Viral load, which is related to clinical and immunological status in the mother, is the main contributing factor for HIV-1 vertical transmission, and these findings may have global and even individual therapeutic implications.

CD4 Lymphocyte Count↗

Cross-sectional survey of hospital paediatric HIV/AIDS care in Catalonia, 1992. Hospital Contributors.

A cross-sectional survey to assess the impact of the paediatric HIV/AIDS epidemic on the hospital-based health care system was performed in state-financed hospitals in Catalonia during 1992, raising issues of relevance today. Out of the 27 hospitals contacted, 20 responded. A considerable proportion of the health care to children with an HIV-related condition was provided by four hospitals. The average length of stay of the 176 HIV patients who were admitted was 10.8 days; these patients were admitted to the hospital twice a year on average. Nearly half of the out-patients who attended with an HIV-related condition were either seropositive without a confirmed diagnosis of an HIV infection (class P-0) or seronegative. Thirteen per cent of the overall admissions to paediatric day care hospitals were attributable to an HIV-related condition. By ownership status of the hospitals, HIV/AIDS paediatric in-patients of public hospitals generated the majority of admissions per patient per year, and had the shortest lengths of stay. Unlike the HIV/AIDS epidemic in adults, the magnitude and characteristics of the epidemic in children may not require the shift of hospital-based health care to primary health care.

Ambulatory Care↗

Potential risk factors for vertical HIV-1 transmission in Catalonia, Spain: the protective role of cesarean section. The Working Group on HIV-1 Vertical Transmission in Catalonia.

OBJECTIVE: To evaluate the roles of certain potential risk factors on the vertical transmission of HIV-1. DESIGN: Prospective registry of infants born to HIV-1-infected women in Catalonia (north-east Spain) from 1987 to 1992. METHODS: A total of 599 infants, born in Catalan hospitals to 520 women who were identified as being HIV-1-infected during gestation or at delivery, were included. Data on mode of delivery, birth weight, gestational age and breast-feeding as well as the mother's age, her route of HIV-1 infection, clinical stage and p24 antigenaemia, were recorded. HIV-1 infection status of 489 (82%) of the infants was determined according to the criteria of the US Centers for Disease Control and Prevention. Risk estimates and odds ratio (OR) were calculated and logistic regression was performed. RESULTS: The overall rate of vertical transmission was 18.6% (95% confidence interval, 15.2-22.0%). Multivariate analyses revealed that Cesarean section was associated with a lower rate of vertical transmission (OR = 0.3; P = 0.001), as was maternal HIV-1 infection via injecting drug use (OR = 0.44; P = 0.02). Breast-feeding (OR = 6.9; P = 0.001), very low birth weight (< 1500 g; OR = 6.3; P = 0.001) and p24 antigenaemia (OR = 4.6; P = 0.04) were all related to increased risk. The crude rate of HIV-1 transmission was 6% among Cesarean births compared with 21% for infants born via vaginal deliveries. The population-attributable risk for vaginal deliveries was 61.7%. CONCLUSIONS: The results show a protective effect of Cesarean section in the absence of zidovudine prophylaxis. However, current research should be directed towards the individual and combined effects that antiretroviral agents and Cesarean section may have on mother-to-child HIV-1 infection.

Adult↗

MHC class II alleles associated with clinical and immunological manifestations of HIV-1 infection among children in Catalonia, Spain.

Children with perinatally-acquired HIV-1 infection were studied to determine if major histocompatibility complex (MHC) genes are involved in progression to pediatric AIDS. Molecular genetic techniques were used to genotype loci in the class II region (DRB1, DQA1, DQB1, DPA1, DPB1, LMP2 and LMP7). HIV-infected children were classified by clinical manifestations and degree of immunosuppression using age-specific CD4 T-lymphocyte counts at enrollment. Alleles at the DPB1 and DQB1 loci showed independent and opposite associations; DPB1*0301 showed a trend toward protection while DQB1*0201 appeared to be a risk factor for developing severe immunosuppression and severe clinical outcomes. Presence of DQB1*0201 conferred a greater than 10-fold increased odds of having severe clinical manifestations and a 2.8-fold increased odds of severe immunosuppression. Presence of DPB1*0301 was associated with a greater than 8-fold decreased odds of severe immunosuppression and severe clinical manifestations. These results support host genetic influences on HIV-1 outcomes in children.

Alleles↗

Creation of a Spanish nephrological nursing accrediting course.

In 1989, the Spanish Association of Nephrological Nursing (Sociedad Espanola de Enfermeria Nefrologica--SEDEN) created a course directed to all graduates in nephrological nursing in Spain to answer a need for further training. This article details the objectives, methodology, and results of the Course for Accrediting Specialized Knowledge in Nephrological Nursing since it was created.

Education, Nursing, Continuing↗

[Marginality, ethnic groups and health].

Main marginated ethnic groups in Span are to be found among gypsies and 3rd world immigrants. The first group include about 250,000 persons and the second group more tan half a million people. Their origins and their being past of the less fortunate social layers made them a group of health risk. Pediatric pathologies are those favored by socio-economic shortcomings as well as hygienic-sanitary deficiencies. Imported pediatric pathologies have a small incident.

Child↗

[Determinants of HIV mother-to-child transmission in Catalonia, Spain [1997-2001]: is it possible to eliminate it?].

OBJECTIVES: To identify and describe the factors that have led to new cases of HIV infection through mother-to-child transmission since the introduction of antiretroviral therapy in HIV-seropositive pregnant women (1997-2001) in Catalonia. METHODS: Systematic review of cases identified in the pediatric services of all the hospitals in Catalonia. RESULTS: Twenty-eight cases of pediatric HIV infection were identified: 9, 9, 8, 2 and 0 per year of birth from 1997 to 2001, respectively. Of 16 mothers with a diagnosis of known HIV infection before or during pregnancy, nine underwent antiretroviral prophylaxis during pregnancy (compliance was good in five, unknown in one and poor in one) and seven did not undergo prophylaxis (six refused it and no information was available in one). Of 12 mothers diagnosed after delivery, pregnancy was not monitored in five and was little or well-monitored in the remaining seven. Of mothers with well-monitored pregnancy, a serological HIV test was not performed in six and was negative in the first trimester in one. CONCLUSIONS: Mother-to-child transmission of HIV has decreased in the last few years in Catalonia, but infections have sometimes occurred through poor implementation of preventive measures. Pregnant women should be offered an HIV diagnostic test not only in the first trimester but also at the end of pregnancy if HIV exposure is suspected. In women with unmonitored pregnancies, rapid diagnostic tests for HIV should be used in the delivery room.

Cross-Sectional Studies↗

[Multiple intracranial tuberculomas in infancy].

INTRODUCTION: Tuberculous involvement of the CNS is most frequent in children aged between 6 months and 6 years, although it may occur at any age. It may present as meningoencephalitis, basal arachnoiditis or intracranial tuberculomas. Whilst meningitis is typical of infancy, tuberculomas and arachnoiditis are commoner in adults. It has been estimated that tuberculomas make up 3% of the cases of neurotuberculosis. The increasing use of CAT and MR has been a great help for diagnosis of this serious complication of tuberculosis. CLINICAL CASE: A 5 month old patient presented with tuberculous meningitis which had been treated with streptomycin, isoniazid, pyrazinamide and rifampicin at the usual dosage. One month later, after good initial progress, triventricular hydrocephaly was diagnosed and a ventriculoperitoneal shunt inserted. Three months after this, there was an episode of intracranial hypertension. Cranial CAT showed considerable zones of hypodense parenchyma without ventricle dilatation. On MR there were multiple, disseminated, rounded areas which were hyperintense on T2 and compatible with intracranial tuberculomas. After fresh insertion of a ventricular shunt, the patient progressed but still had a residual right hemiparesia and retarded development. CONCLUSIONS: Although intracranial tuberculomas usually occur in adults, they may be seen in children following meningoencephalitis. Occasionally, following a good initial response to tuberculostatic drugs, tuberculomas appear, although not present before, as happened in our patient. This usually occurs within the first three months, and although the mechanism is unknown, it is believed to be due to the accumulation of lymphocytes and macrophages at preexisting microscopic foci when treatment is started.

Female↗

[Neurofibromatosis type 2 as a result of a de novo mutation: a case report].

INTRODUCTION: Neurofibromatosis type 2 is a dominant autosomic hereditary disease which courses with distinct tumours of the central nervous system and scant cutaneous manifestations. The increased knowledge of the natural history and the genetics of NF 2 acquired over the past few years has shown that clinical onset possibly occurs during the paediatric age and an early diagnosis of these patients can be decisive in the final outcome. CLINICAL CASE: A 12 year old girl who visited the clinic because of a month old presentation of cervical tumour, otalgia and dysphonia. Exploration revealed signs of cranial nerve disorder and the magnetic resonance (MR) showed bilateral schwannomas of the eighth cranial nerves. The extension study showed ocular, auditory, troncoencephalic and cervical spinal cord disorders. The patient died three months after hospital admission. The genetic study showed a de novo mutation in the NF 2 gene (chromosome 22q12). DISCUSSION: The identification of the various mutations that cause NF 2 has enabled the early diagnosis of the patient s relatives. However, there are still patients who have not been confirmed genetically. Furthermore, de novo mutations are not predictable. NF 2 diagnosis is still clinical. In the last few years, two disease phenotypes have been defined: mild and moderate/serious, which is associated with an early onset and de novo mutations. The high incidence rate of cataracts and other associated tumours, such as those affecting paraspinal and cutaneous areas together with meningiomas, which up until now could have gone unnoticed, has also been observed. Clinical onset in the paediatric age is more frequent than was expected and shows distinct and subtle symptoms.

Adult↗