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Anna Soler

Publications and source records attributed to Anna Soler.

16 recordsLinked to original sources
PubMed2007

Duplication/deletion mosaicism of the 7q(21.1 --> 31.3) region.

Mosaicism for structural aberrations is a rare event and the coexistence of a cell line with a duplication and another with a deletion of the same chromosome segment is even more infrequent. We report a boy with a 46,XY,del(7q)/46,XY,dup(7q) mosaicism. High-resolution cytogenetic analysis and fluorescent in situ hybridization (FISH) performed at birth showed a trisomy for region 7q21.1 to 7q31.3 in 90% of metaphases analyzed and monosomy for the same region in 10% of metaphases. At the age of 12 months, karyotype on peripheral blood and exfoliated urinary epithelial cells was 46,XY,dup(7)(q21.1q31.3) in all cells analyzed. The patient presented malformations and psychomotor retardation. His phenotype is compared with other previously case reports describing patients with an interstitial duplication of 7(q21 or q22 --> q31.3). Due to the absence of a normal cell line, we propose a post-zygotic origin of the abnormality during the first mitotic division and a progressive loss of the deleted cells during pre- and post-natal development by selective pressure. The patient described here emphasizes the possible existence of an undetectable cell line in patients previously diagnosed of pure partial 7q trisomy or monosomy to explain the great clinical variability between reported patients. We also describe the culture of urinary epithelial cells in order to perform cytogenetic analysis as a useful non-invasive method.

Adult↗
PubMed2006

[Effectiveness and tolerance of atorvastatin for antiretroviral therapy-secondary dyslipemia].

BACKGROUND AND OBJECTIVE: We investigated atorvastatin effectiveness and tolerance in HIV patients with hypercholesterolemia related to antiretroviral treatment. PATIENTS AND METHOD: Prospective study that included HIV+ patients under antiretroviral treatment who displayed secondary dyslipemia and medical treatment criteria (according to NCEP-III). These patients were given 10 mg/day atorvastatin and hygienic-dietetic measures. If the therapeutic objectives were not achieved, the dose of atorvastatin was increased to 20 mg/day. Patients were followed up for 6 months. RESULTS: 32 patients were included. In 5 cases it was necessary to increase the dose from 10 mg atorvastatin to 20 mg. The therapeutic objective was obtained in 62% cases, with a good clinical tolerance. Only one adverse effect was noticed, which forced the removal of the drug. CONCLUSION: In our study atorvastatin was effective for the treatment of dyslipemia in HIV patients, and it was safe and well tolerated.

Adult↗
PubMed2006

[Knowledge of the disease and the advance directives in patients with HIV infection].

BACKGROUND AND OBJECTIVE: Advanced directives documents (ADD), allow respect and know patient's intentions in health matters, when they are not able by themselves, for decision making. The aim of this study is making a valoration of the knowledgment of this documents in human immunodeficiency virus (HIV) infected patients, as well as their own knowledgment about this patology and possible complications. PATIENTS AND METHOD: HIV infected patients controlled in 2 centers (Hospital de Mataró and Hospital de Granollers). Plained interview as a questinonary, that permits evaluate: own knowledge of the patology, received medical information level of satisfaction, patient s medical decision making involving desire, aptitudes in front of different hypothetical health status, and ADD knowledge. Factors associated to both knowledges (patology and ADD) are also evaluated. RESULTS: 74.3% of the interviewed patients, showed a good patology knowledge. This result was associated with: youth, less functional level according to Karnofsky's scale, subjective perception on severity, previous admission at an intensive care unit, chronic hepatopathy, and previous parenteral drugs addiction. In the same way was associated with the negative to depend of mechanical ventilation or another people, and not being uncomfortable talking about this subjects. ADD's knowledge was relationated with the fact of being female (42.0% vs 26.8%; p = 0.024), higher academic formation (55.1% vs 25.5%; p < 0.001) and belief that medical decision making must be done by themselves (78.3% vs 53.6%; p = 0.002). CONCLUSIONS: Patology understanding and its complications, may be considered optimal in HIV population. One third of this group, has a good knowledge of ADDs, and is directly relationated with female sex, academic level, and clinical decisions making implication by the patients.

Adult↗
PubMed2006

Polymorphism of RANTES chemokine gene promoter is not associated with long-term nonprogressive HIV-1 infection of more than 16 years.

To examine whether polymorphisms of the RANTES chemokine gene promoter are associated with long-term nonprogressive HIV-1 infection in white Spanish subjects, we performed a cross-sectional genetic association case-control study. Two-hundred sixty-seven white Spaniards were studied: 58 were HIV-1-infected long-term nonprogressors (LTNPs) of more than 16 years, 109 were HIV-1-infected usual progressors (UPs), and 100 were control subjects. Three RANTES single nucleotide polymorphisms (SNPs) at positions -28C>G, -109T>C, and -403G>A were assessed. The prevalence of the CCR5Delta 32 allele was also examined. Genotyping was performed using polymerase chain reaction and automatic sequencing analysis methods. Genotype and allele frequencies between the 3 groups were compared by the chi2 test and the Fisher exact test. The distribution of allelic variants of RANTES in controls, UPs, and LTNPs, respectively, was 3%, 2%, and 5% for -28G; 4%, 2%, and 2% for -109C; and 18%, 18%, and 18% for -403A (P = not significant). The differences were still nonsignificant when we exclusively analyzed individuals not carrying the CCR5Delta32 allele. We conclude that LTNP of more than 16 years is not associated with SNPs in the RANTES gene promoter in white Spanish HIV-1-infected subjects.

Adult↗
PubMed2006

[Bupropion use for smoking cessation in HIV-infected patients receiving antiretroviral therapy].

Smoking is the most important modifiable cardiovascular risk factor. Bupropion administration is an effective method to achieve smoking cessation (SC), but the drug is metabolized by the cytochrome P450 enzyme system and this might cause interactions with antiretroviral drugs. We present a prospective study of bupropion SC therapy in HIV-positive patients under antiretroviral treatment. A total of 21 patients were studied; 38% of them stopped smoking for more than one year. No clinically significant drug interactions were found. Bupropion SC therapy was effective in HIV-positive patients and did not cause significant clinical interactions with antiretroviral drugs.

Adult↗
PubMed2005

[Treatment of symptomatic hyperlactatemia and lactic acidosis in HIV+ patients under nucleoside reverse transcriptase inhibitors].

BACKGROUND AND OBJECTIVE: We intended to find out the effectiveness of lactic acidosis therapy for mitochondrial toxicity. PATIENTS AND METHOD: HIV-patients receiving nucleoside reverse transcriptase inhibitors (NRTIs), hospitalized with lactic acidosis or symptomatic hyperlactatemia. Venous hyperlactatemia was considered at > 2.2 mmol/l. Treatment consisted of a daily vitamin regime of L-carnitine, thiamine, vitamin B6, hydroxicobalamine, and vitamin C; any glucose intake was discontinued. NRTIs treatment was stopped immediately. RESULTS: Nine patients on current therapy were identified who had symptomatic hyperlactatemia (n = 4) or lactic acidosis (n = 5) from 1/2001 to 9/2002. All were patients with AIDS, receiving NRTIs with a mean duration of 5 years: ddI (n = 7), d4T (n = 5), AZT(n = 3), 3TC (n = 2), abacavir (n = 1). Most common symptoms were tachypnea, slight fever, abdominal pain, nausea, vomiting and diarrhea. All patients had a favourable prognosis after administration of L-carnitine and vitamin complexes, with discontinuation of NRTIs and glucose intake. Clinical features lasted 7 days. After 15 (5) months of follow up, none had a recurrence of the syndrome. CONCLUSION: The application of this therapy could play a role in the treatment of NRTI - related lactic acidosis.

Acidosis, Lactic↗
PubMed2005

Recombination in a male carrier of two reciprocal translocations involving chromosomes 14, 14', 15, and 21 leading to balanced and unbalanced rearrangements in offspring.

We report an unusual case of a familial complex chromosome rearrangement (CCR), ascertained through prenatal diagnosis. The fetus carried an apparently balanced CCR with a recombinant 3-segment chromosome derived from two paternal reciprocal translocations involving both homologs of chromosome 14 and chromosomes 15 and 21, respectively. A probably normal phenotype was predicted and confirmed after birth. His older sister carried an unbalanced karyotype with partial trisomy 14 and partial monosomy 21, and displayed an apparently normal, paternally derived chromosome 14 that resulted from recombination between two derivative chromosomes. Fluorescent in situ hybridization (FISH) and molecular studies were essential for the characterization of the rearrangement. The "rebuilding," through recombination, of a chromosome involved in two different translocations in a progenitor, was demonstrated for the first time by molecular analysis. Our family is another good example of how balanced familial complex translocations are in a state of flux and can change from one generation to the next.

Chromosomes, Human, Pair 14↗
PubMed2005

46,XY,18q+/46,XY,18q- mosaicism in a fragile X prenatal diagnosis.

OBJECTIVES: We describe a fetus with confined placental mosaicism for 46,XY,dup(18)(q21q23)/46,XY, del(18)(q21) in which finally the 18q- cell line formed the embryo. This prenatal diagnosis was performed on a pregnant woman carrying a premutation in the FMR1 gene. The purpose of the current study was to characterise the final fetus genotype and to discuss how this chromosomal abnormality was originated. METHODS: Conventional cytogenetic analyses were performed from chorionic villi, amniocytes, and fetal blood samples in order to establish the fetal chromosome constitution. Molecular studies with microsatellite markers and CGH were carried out to this end. PCR and Southern blot were used to analyse the CGG-repeat region of the FMR1 gene. RESULTS: An initial chorionic villi sample analysis showed a normal allele for the fragile X syndrome, but an abnormal 46,XY,dup(18)(q21q23) karyotype. Amniocentesis was subsequently performed, and a different 46,XY,del(18)(q21) cell line was detected. Re-examination of original chorionic villi sample evidenced a mosaicism for 46,XY,dup(18)(q21q23)/46,XY,del(18)(q21). Molecular findings allowed us to determine that the deletion expands at least 20 Mb and that it is paternally inherited. CONCLUSION: Two different cell lines with structural abnormalities on chromosome 18 were formed as a consequence of an unequal sister chromatid exchange during the first post-zygotic division. This case reinforces the necessity of performing a karyotype in all prenatal diagnosis even when the indication is for a monogenic disease.

Adult↗
PubMed2005

Efficacy and safety of once-daily combination therapy with didanosine, lamivudine and nevirapine in antiretroviral-naive HIV-infected patients.

BACKGROUND: Simplified antiretroviral regimens are needed to improve patient adherence and quality of life. The purpose of this study was to evaluate the efficacy and safety of a once-daily regimen consisting of didanosine (ddI), lamivudine (3TC) and nevirapine (NVP) for adult antiretroviral-naive patients with HIV-1 infection. METHODS: This was a prospective, one-arm, multicentre pilot study. Daily drug dosage was 250 or 400 mg didanosine, 300mg lamivudine and 400 mg nevirapine. The primary outcome measure was the percentage of patients with a plasma HIV-RNA level <50 copies/ml at 12 months on an intention-to-treat (ITT) basis. RESULTS: Seventy patients were enrolled in the study. At baseline, mean plasma HIV-1 RNA was 5.10log10 copies/ml, and mean CD4 cell count was 262 cells/microl. At month 12, 67% (95% CI: 56-78) of patients maintained a viral load of <50 copies/ml in the ITT analysis and CD4 counts increased a median of 201 cells/microl. The treatment was more effective in patients with baseline CD4 counts >100 cells/microl than in those with a poorer immunological status at baseline, although the number of patients with CD4 counts <100 was low. Four patients died during the study period. Therapy was discontinued in 18 patients due to virological failure in 11, adverse events in seven, loss to follow-up or withdrawal of consent in four and death in one. Eight out of nine patients with available genotype after virological failure showed resistance mutations to NVP (Y181C and others) and 3TC (M184V/I), and four of them also had ddI resistance (L74V). The lipid profile was favourable, with a decrease in the ratio of total-to-high density lipoprotein cholesterol. CONCLUSION: A once-daily combination of ddI, 3TC and NVP seems to be an effective, safe and easy-to-take regimen in antiretroviral-naive patients, at least in those who do not have severe immunodepression at baseline.

Adult↗
PubMed2004

First-trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimal gestational ages. An interventional study.

OBJECTIVE: To assess the effectiveness of the Combined Test in the prenatal detection of trisomy 21 in the general pregnant population using a new timing for the screening approach. METHODS: First-trimester maternal serum biochemical markers (pregnancy-associated plasma protein-A and free-beta hCG) were determined in maternal serum at 7 to 12 weeks. Fetal nuchal translucency and gestational age were assessed at the 10- to 14-week ultrasound scan. A combined risk was estimated and delivered to the women the same day. When the risk was 1:250 or above, chorionic villus sampling was offered. RESULTS: Mean gestational age at biochemistry was 9.4 weeks, being 12.3 at ultrasound. In the 2780 studied pregnancies with a complete follow-up, observed detection rates were 88% (7/8) for trisomy 21 and 75% (3/4) for trisomy 18, with a 3.3% (92/2765) false-positive rate. CONCLUSION: The Combined Test, assessing biochemistry and ultrasound at individually optimal ages in the first trimester, showed an 88% detection rate for trisomy 21 with a remarkably reduced false-positive rate (3.3%).

Adolescent↗
PubMed2004

Mitochondrial effects of antiretroviral therapies in asymptomatic patients.

BACKGROUND: A decrease in the mitochondrial (mt) DNA to nuclear DNA ratio has gained acceptance as a marker of mitochondrial toxicity in treated HIV-infected patients, but the functional meaning of this alteration is unclear. METHODS: We assessed mtDNA content, mitochondrial content and function in peripheral blood mononuclear cells (PBMCs) of consecutive asymptomatic HIV-infected patients. Patients selected had been receiving a first-line highly active antiretroviral therapy (HAART) regimen for at least 6 months, consisting of zidovudine plus lamivudine or stavudine plus didanosine plus either nelfinavir or nevirapine, or were antiretroviral-naive. The mtDNA content was assessed by quantitative real-time PCR, mitochondrial content by citrate synthase activity, enzyme activity of complexes III and IV (both partially encoded by mtDNA) of the electron transport chain by spectrophotometry, oxygen consumption by polarography, and oxidative damage in cell membranes by monitoring cis-parinaric acid fluorescence. RESULTS: Mitochondrial content was significantly lower in all treated groups. Patients receiving stavudine plus didanosine had mtDNA depletion and a decrease in complex IV activity. However, oxygen consumption capacity and lipid peroxidation were unaffected in all groups. CONCLUSION: Long-term HAART may induce mitochondrial abnormalities in PBMC mitochondria, which do not necessarily translate into functional abnormalities, at least in asymptomatic patients.

Adult↗
PubMed2003

[Emergencies in patients attender in a drug abuse treatment center].

BACKGROUND AND OBJECTIVE: To find out the type of emergency consultations made by users at a substance abuse treatment center (SATC). PATIENTS AND METHOD: Prospective study of emergency consultations made during six months by patients controlled at a SATC. RESULTS: 333 patients were followed up; 27 (8%) of them consulted and 9 (33%) were found to have an HIV infection. Heroin addicts consulted more times and repeated visits more commonly than cocaine addicts (p < 0.04 and 0.03). Patients enrolled in the methadone maintenance programme consulted less commonly than patients included in other programmes (p < 0.01). 35% of visited patients did not need treatment and 75% were discharged. CONCLUSIONS: We have detected two different types of consultations: those owing to a psychiatric/drug disorder in patients followed-up for less than 1 year, which are resolved after just one visit, without need of hospitalization; and those consultations caused by medical disorders, frequently related to HIV, which are generated by patients submitted to longer follow-up periods; these patients use to repeat the consultations and are commonly admitted.

Adult↗
PubMed2003

Fetoplacental discrepancy involving structural abnormalities of chromosome 8 detected by prenatal diagnosis.

We describe the finding of three cell lines involving different structural abnormalities of chromosome 8 detected in a prenatal diagnosis. Chorionic villi sampling (CVS) was performed on a pregnant woman because of advanced maternal age. Semidirect cytogenetic analysis showed a mos46,XX,i(8q)/46,XX,del(8)(p11.2) karyotype, confirmed by fluorescence in situ hybridization (FISH). Amniocentesis was subsequently performed, and the karyotype obtained was 46,XX,dup(8)(p23p11.2). The pregnancy was terminated; pathologic findings included clubfeet, clenched left hand, subcutaneous edema and bilateral hydrocephalus. Molecular studies using chromosome 8 microsatellites performed on parents' blood and fetal tissues revealed a maternal meiotic origin of the inv dup(8p) with deletion of the distal p23 region and duplication of the remaining 8p. We propose a model to explain the cytogenetic findings, which includes a first maternal meiotic error giving rise to a large dicentric isochromosome 8 present in the ovum, a second error in one of the first zygote divisions with misdivision of the dicentric 8 giving rise to a cell line with del(8p) confined to the trophoblast and another cell line with inv dup(8p) confined to the fetal tissue and a third error in the trophoblast giving rise to a further cell line with isochromosome 8q.

Abnormalities, Multiple↗
PubMed2003

Mitochondrial DNA depletion and respiratory chain enzyme deficiencies are present in peripheral blood mononuclear cells of HIV-infected patients with HAART-related lipodystrophy.

The main objective of the present study was to ascertain if mitochondrial DNA (mtDNA) depletion as reported in HIV-infected patients with highly active antiretroviral therapy (HAART)-related lipodystrophy (LD) implies any degree of mitochondrial respiratory chain (MRC) dysfunction. For this purpose, we evaluated HIV patients on different HAART schedules with LD (group A; n=12) and on HAART but without LD (group B; n=12), and untreated HIV-infected patients as controls (group C; n=24). mtDNA content was determined on peripheral blood mononuclear cells (PBMCs) with a real-time PCR method. Complex II, III and IV activities of the MRC were simultaneously measured spectrophotometrically, as were spontaneous and stimulated oxygen consumption by PBMCs. Compared to controls (group C, 100%), patients with LD (group A) showed a decreased mtDNA content (54%, P<0.001), which was associated with a decline in complex III (62%, P<0.05) and IV activity (69%, P<0.05) (both complexes partially encoded by mtDNA), but not in complex II activity (exclusively encoded by nuclear DNA). Patients in group B showed a similar pattern of mitochondrial dysfunction but to a lesser extent and without statistical significance. Respiratory activities in both treated groups (A and B) did not differ in comparison with controls. We conclude that mtDNA depletion occurring during HAART is associated with deficiencies in MRC complexes partially encoded by mtDNA, which are detectable by PBMCs. Presented in 'Late Breakers and Hot Topics' session at 6th International Congress on Drug Therapy in HIV Infection, Glasgow, UK, 17-21 November 2002.

Adult↗
PubMed2002

Transcervical chorionic villus sampling in multiple pregnancies using a biopsy forceps.

OBJECTIVE: The aim of this study was to assess the effectiveness and safety of chorionic villus sampling (CVS) performed in multiple pregnancies by means of a transcervical biopsy forceps. METHODS: The study included CVS performed from January 1990 to March 2000 in our Unit. The results were analysed in two consecutive periods, period A (1990-1994) and period B (1995-2000), in an attempt to assess the effect of increasing experience. RESULTS: Seventy-five samplings were performed in 39 multiple pregnancies, 38 twin sets and one triplet. A cytogenetic report was obtained in 73% of cases in period A and in 98% in period B. An abnormal karyotype was observed in 11 samples. The need for subsequent amniocentesis decreased from 38% in period A to 10% in period B. The spontaneous fetal loss rate in chromosomally and structurally normal fetuses before the 20th week decreased from 8.7% in period A to 3.3% in period B. The fetal loss rate after the 20th week was 3.3% in period B and none in period A. It must be noted that in three out of the four cases of fetal loss an amniocentesis was needed after CVS. CONCLUSION: Our results suggest that effectiveness and safety improved with increasing experience. Transcervical chorionic villus sampling allows an earlier prenatal genetic diagnosis in multiple pregnancies and this may be particularly relevant for a safer selective termination when chosen by parents if one of the fetuses has an abnormal karyotype.

Abortion, Spontaneous↗