A French retrospective study on clinical outcome in 102 choroid plexus tumors in children.

The aim of this study was to review and describe therapeutic approaches in children with choroid plexus tumor (CPT) based on a nationwide series. The World Health Organization classification subdivides these rare tumors into three histological subtypes corresponding to three grades of malignancy: low grade (grade I) choroid plexus papilloma (CPP), intermediate grade (grade II) atypical choroid plexus papilloma (aCPP) and high grade (grade III) choroid plexus carcinoma (CPC). This retrospective study included 102 French children younger than 18 years, treated from 2000 to 2012: 54 CPP, 26 aCPP and 22 CPC. The 5 year overall survival was 100% in CPP, 96.2% in aCPP and 64.7% in CPC. In patients with localized disease, complete surgical resection was achieved in 48/52 CPP, 20/26 aCPP and 7/14 CPC. In this group, patients with complete surgical resection had better event free survival than patients with partial resection (88.9 vs. 41.6%). 28 patients (1 CPP, 6 aCPP and 22 CPC) had adjuvant chemotherapy. 2 aCPP and 9 CPC had radiotherapy. We underlined the need for a central histological review to accurately analyze clinical data; we reported a much higher overall survival for CPC than in most previous CPT series probably including atypical teratoid rhabdoid tumors. In our series, the 5 years overall survival in CPC (64.7%) was higher than event free survival (25.2%) and could be interpreted as a clue for the efficiency of adjuvant/salvage therapy even if the heterogeneity of applied treatments in this retrospective series does not allow for meaningful statistical comparisons.

Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.

Pyloric atresia associated with junctional epidermolysis bullosa (PA-JEB), is a rare inherited disorder characterized by pyloric stenosis and blistering of the skin as primary manifestations. We demonstrate that in one PA-JEB patient the disease resulted from two distinct mutations in the beta 4 integrin gene alleles. The paternal mutation consists of a one base pair deletion causing a shift in the open reading frame, and a downstream premature termination codon. The maternal mutation occurs in a donor splice site, and results in in-frame exon skipping involving the cytoplasmic domain of the polypeptide. Our results implicate mutations in the beta 4 integrin gene in some forms of PA-JEB.

Utility of Ki67 immunostaining in the grading of pineal parenchymal tumours: a multicentre study.

AIMS: Pineal parenchymal tumours (PPTs) are rare neoplasms that are divided into pineocytoma (PC), pineoblastoma (PB) and PPT of intermediate differentiation (PPTID). Factors affecting the survival of patients with PPTs are morphological subtype and histological grading according to mitotic index and neurofilament immunostaining. Grading criteria to distinguish PPTIDs are difficult to define, particularly when using small specimens. The Ki67 labelling index (LI) might be helpful in distinguishing between grade II and III PPTIDs. Our study was performed to assess the predictive value of the Ki67 LI in a large cooperative series of PPTs and to evaluate whether inclusion of this data would improve and refine the World Health Organization classification. METHODS: A retrospective analysis of 33 PPTs was performed. The histological features of the tumours were reviewed and Ki67 LI scoring was evaluated by immunohistochemistry. Data were correlated with the patients' survival. RESULTS: The mean Ki67 LI was significantly different for tumour grades (0 in PC, 5.2 ± 0.4 in PPTID grade II, 11.2 ± 2.0 in PPTID grade III, 36.4 ± 6.2 in PB; P < 0.0001). However, there was no statistically significant difference in either overall or disease-free survival evaluated by the Kaplan-Meier method for patients with different grade tumours or Ki67 LI, possibly due to the different clinical management of patients in different centres. CONCLUSIONS: The Ki67 LI may be a useful additional tool for grading PPTs, more particularly in small tumour samples.

DNA from soil mirrors plant taxonomic and growth form diversity.

Ecosystems across the globe are threatened by climate change and human activities. New rapid survey approaches for monitoring biodiversity would greatly advance assessment and understanding of these threats. Taking advantage of next-generation DNA sequencing, we tested an approach we call metabarcoding: high-throughput and simultaneous taxa identification based on a very short (usually <100 base pairs) but informative DNA fragment. Short DNA fragments allow the use of degraded DNA from environmental samples. All analyses included amplification using plant-specific versatile primers, sequencing and estimation of taxonomic diversity. We tested in three steps whether degraded DNA from dead material in soil has the potential of efficiently assessing biodiversity in different biomes. First, soil DNA from eight boreal plant communities located in two different vegetation types (meadow and heath) was amplified. Plant diversity detected from boreal soil was highly consistent with plant taxonomic and growth form diversity estimated from conventional above-ground surveys. Second, we assessed DNA persistence using samples from formerly cultivated soils in temperate environments. We found that the number of crop DNA sequences retrieved strongly varied with years since last cultivation, and crop sequences were absent from nearby, uncultivated plots. Third, we assessed the universal applicability of DNA metabarcoding using soil samples from tropical environments: a large proportion of species and families from the study site were efficiently recovered. The results open unprecedented opportunities for large-scale DNA-based biodiversity studies across a range of taxonomic groups using standardized metabarcoding approaches.

MS imaging and absorption methods visualizing sun filter skin spatial distribution and penetration.

Sunscreens must now be effective in protecting skin from ultraviolet, as well as visible/infrared radiation. Here, TriAsorB, a new broad-spectrum sun filter, was formulated with three other sunscreens and their distribution on human skin was studied using a standard penetration protocol and two novel mass spectrometry imaging techniques: atmospheric pressure matrix assisted laser desorption ionization (AP-MALDI) coupled to high resolution mass spectrometry and time of flight - secondary ion mass spectrometry (ToF-SIMS). The standard penetration protocol showed that sun filters absorption was very low, with most of the dose recovered at the surface (none entered the receptor fluid). Absorption was not increased in damaged skin. The results were confirmed by AP-MALDI and ToF-SIMS imaging of the spatial distribution of molecular species in cross-section samples of human skin. Each sun filter was detected on or in the stratum corneum, with a good homogenous coverage over the valleys and peaks of the skin, and correlated well with the distribution of endogenous biomarkers. In conclusion, conventional and novel imaging analysis methods showed that the sun filters remained mainly on the skin surface after topical application. Mass spectrometry imaging is a promising complementary approach to traditional skin penetration studies to visualize penetration of compounds.

[Evolution of third-generation cephalosporin resistance in Enterobacteriaceae from 2000 to 2008 in a Perpignan hospital]. / Evolution de la résistance des entérobactéries aux céphalosporines de troisième génération de 2000 à 2008 au centre hospitalier de Perpignan.

The aim of this work was to evaluate the evolution of Enterobacteriaceae resistance to third generation cephalosporin (3CG) from 2000 to 2008 at Perpignan hospital. Were observed: the percentage of strains isolated from short stay wards, intensive care unit and medium and long-term care facility. The percentage of strains isolated from: urine, suppuration, tracheal aspiration, and blood have been evaluated. The proportion of Escherichia coli (E. coli) strains among the Enterobacteriaceae strains intermediate (I) or resistant (R) to 3GC was also evaluated.The number of Enterobacteriaceae intermediated (I) or resistant (R) to 3GC increased (402 %).The distribution of species I or R to 3GC has changed, decrease of Klebsielle pneumoniae and Enterobacter aeorogenes species, Escherichia.coli and Enterobacter cloacae became dominant in 2008. We noted the change of isolated species distribution, urines represent the main source of multiresistant Enterobacteriaceae (MRE), 72 % of strains. The profile of patients colonised or infected by MRE has changed. Patients mainly infected with hospital acquirred MRE changed to MRE colonised patients carrying the strain into the hospital. The association of fluorinated quinolone resistance and Extended-Spectrum Beta-Lactamase Enterobacteriaceae represented 51 % in 2000, became stable at 73 % from 2002. The association of fluorinated quinolone resistance and high-level Enterobacteriaceae cephalosporinase has increased from 21 % in 2000 to be stable at 50 % since 2006. The mesures to contain the spread of MRE strains remained inefficient because of outpatients circulation, multiresistant E. coli being community species.

Interdisciplinary consensus document for the treatment of fibromyalgia.

Backgrounds. The elevated prevalence and enormous clinical and social impact of fibromyalgia, together with the complexity of its treatment, require action consensuses that guide health care professionals. Although there are some similar documents in our language, most have been made from the perspective of a single discipline.Objective. To develop a consensus on the treatment of fibromyalgia made by selected representatives and supported by the principal medical associations that intervene in its treatment (rheumatology, neurology, psychiatry,rehabilitation and family medicine) and representatives of the associations of patients. On the other hand, understanding the disease not as a homogenous disorders but also as the sum of different clinical subtypes,having specific symptomatic characteristics and different therapeutic needs is stressed. This approach represented a need perceived by the clinicians and a novelty regarding previous consensuses.Methods. The different clinical classifications proposed in fibromyalgia and the scientific evidence of the treatments used in this disease were reviewed. For the selection of the classification used and performance of the therapeutic recommendations, some of the usual techniques to obtain the consensus (nominal group and brainstorming) were used.Conclusion. The classification of Giesecke of fibromyalgia into 3 subgroups seems to have the greatest scientific evidence and the most useful for the clinician. The guide offers a series of general recommendations for all the patients with fibromyalgia. However, in addition, for each subgroup, there are a series of specific pharmacological and psychological-type recommendations and those of modification of the environment, which will make it possible to have a personalized approach to the patient with fibromyalgia in accordance with their individual clinical characteristics (pain, catastrophizing levels, etc.).

Frequent alteration of DNA damage signalling and repair pathways in human colorectal cancers with microsatellite instability.

Accumulation of frameshift mutations at genes containing coding mononucleotide repeats is thought to be the major molecular mechanism by which mismatch repair-deficient cells accumulate functional alterations. These mutations resulting from microsatellite instability (MSI) can affect genes involved in pathways with a putative oncogenic role, but may also arise in genes without any expected role in MSI carcinogenesis because of the high mutation background of these tumours. We here screened 39 MSI colorectal tumours for the presence of mutations in 25 genes involved in DNA damage signalling and repair pathways. Using a maximum likelihood statistical method, these genes were divided into two different groups that differed significantly in their mutation frequencies, and likely represent mutations that do or do not provide selective pressure during MSI tumour progression. Interestingly, the so-called real-target mutational events were found to be distributed among genes involved in different functional pathways of the DNA metabolism, for example, DNA damage signalling (DNA-PKcs, ATR), double-strand break (DSB) repair (DNA-PKcs, RAD50), mismatch repair (MSH3, MSH6, MBD4) and replication (POLD3). In particular, mutations in MRE11 and/or RAD50 were observed in the vast majority of the tumours and resulted in the concomitant loss of immunohistochemical expression of both proteins. These data might explain why MSI colorectal cancers (CRC) behave differently in response to a wide variety of chemotherapeutic agents, notably those targeting DNA. More generally, they give further insights into how MSI leads to functional changes with synergistic effects in oncogenic pathways.

[Nontumoral epileptogenic lesions]. / Les lésions épileptogènes non tumorales.

Nontumoral epileptogenic lesions account for the major pathological group of surgical specimens obtained from patients with temporal or extratemporal drug-resistant epilepsy. Hippocampal sclerosis remains the predominant etiology, but cerebral cortical dysplasias actually make up the second major cause of nontumoral epilepsy and are increasingly recognized. The percentage of vascular lesions or glial/glio-mesodermal scars remains stable, but the minor or nonspecific lesion group is decreasing because of imaging investigation technique improvement.

Microsatellite instability and mutation analysis of candidate genes in urothelial cell carcinomas of upper urinary tract.

A subset of upper urinary tract urothelial cell carcinomas (UUC), arising sporadically or as a manifestation of hereditary non-polyposis colorectal cancer, displays microsatellite instability (MSI). MSI tumours are characterized by defective mismatch repair and accumulation of frameshift mutations in numerous genes harbouring repeats in their coding sequences. We have evaluated the incidence of MSI in UUC and the intratumoral distribution of mutations in 13 candidate target genes. A total of 58 unselected UUC were screened for MSI using the panel of five mononucleotide markers recently recommended by the National Cancer Institute for a precise MSI assessment. Four tumours displayed MSI (7%), among which at least three had alterations in the genes MSH3, BAX, MRE11, RAD50. Mutations in genes involved in key cellular pathways (ATR, DNA-PKcs, MBD4, TCF-4, MSH6, and BLM) were further detected. BAX and MRE11 mutations tend to present homogeneously within the three MSI UUC. Immunohistochemistry (MLH1, MSH2, MSH6) showed that loss of mismatch repair protein expression occurred in all MSI UUC defining the gene defect and that MRE11 and RAD50 mutations were associated with their concomitant loss expression. In conclusion, MSI UUC represent a small proportion of UUC in which BAX and MRE11 mutations are frequent and may play a role early in UUC tumorigenesis.

Herlitz junctional epidermolysis bullosa keratinocytes display heterogeneous defects of nicein/kalinin gene expression.

Previous studies have correlated the Herlitz junctional epidermolysis bullosa (H-JEB) to an altered expression of the basement membrane component nicein/kalinin. This heterotrimeric glycoprotein appears to be present in H-JEB tissues in an abnormal form, because a number of antibodies specific to the protein either do not react with or weakly stain the epidermal basement membranes of most of the patients. With cDNA probes encoding each subunit of nicein and polyclonal antibodies raised against bacterial fusion polypeptides corresponding to the individual chains of the protein, we have molecularly analyzed the expression of nicein in H-JEB tissues and cultured keratinocytes. By immunohistochemistry, Northern blot, and protein analysis, we show a defective synthesis of one of the nicein subunits in six cases of H-JEB from five different consanguineous families. In two patients, the disease correlates with an impaired synthesis of the nicein B2 (nic B2) chain, in three others with that of the B1 (nic B1) chain, and in a sixth patient with that of the heavy A (nic A) chain. In this report, we thus demonstrate that H-JEB is a genetically heterogeneous disease and we provide strong evidence that the genes of nicein are the candidates for this genodermatosis.

Controversies in the current management of lumbar hernias.

BACKGROUND: Abdominal wall surgery has changed dramatically in recent years. The current management of lumbar hernias should reflect the development of modern imaging techniques and new forms of noninvasive treatment. OBJECTIVE: To review and update knowledge on lumbar hernias. DATA SOURCES: Literature review using MEDLINE with the key words "lumbar hernia" for the years 1950 through 2004. For an analysis prior to this date (1750-1950), we used cases reported by Thorek. Our own study of 28 patients was also included. STUDY SELECTION: All articles reporting clinical cases on lumbar hernia. DATA EXTRACTION: Two reviewers analyzed the epidemiological, clinical, and treatment data of the articles. DATA SYNTHESIS: One hundred thirty-five clinical case articles and 8 studies with more than 5 patients, together with our personal experience of 28 cases, were analyzed. Nine percent of acquired lumbar hernia cases presented for emergency surgery, which means that a clinical diagnosis was completed with computed tomography in more than 90% of the cases. None of the published classifications has a therapeutic orientation. We present an original classification based on 6 categories and 4 types. In our study, there was a predominance of incisional hernias (79%), with no difference with regard to sex or location but with a predominance in the upper space (47%). Laparoscopic treatment accounts for 9% of the publications' cases and there is only 1 prospective comparative study. CONCLUSIONS: The use of a complete classification and tomography must be standard practice in the preoperative protocol of patients with lumbar hernia. The laparoscopic approach seems to be the best option for treating small or moderate defects; open surgery can be reserved for large defects and to salvage failures with the laparoscopic approach.

High-throughput microsatellite genotyping in ecology: improved accuracy, efficiency, standardization and success with low-quantity and degraded DNA.

Microsatellite markers have played a major role in ecological, evolutionary and conservation research during the past 20 years. However, technical constrains related to the use of capillary electrophoresis and a recent technological revolution that has impacted other marker types have brought to question the continued use of microsatellites for certain applications. We present a study for improving microsatellite genotyping in ecology using high-throughput sequencing (HTS). This approach entails selection of short markers suitable for HTS, sequencing PCR-amplified microsatellites on an Illumina platform and bioinformatic treatment of the sequence data to obtain multilocus genotypes. It takes advantage of the fact that HTS gives direct access to microsatellite sequences, allowing unambiguous allele identification and enabling automation of the genotyping process through bioinformatics. In addition, the massive parallel sequencing abilities expand the information content of single experimental runs far beyond capillary electrophoresis. We illustrated the method by genotyping brown bear samples amplified with a multiplex PCR of 13 new microsatellite markers and a sex marker. HTS of microsatellites provided accurate individual identification and parentage assignment and resulted in a significant improvement of genotyping success (84%) of faecal degraded DNA and costs reduction compared to capillary electrophoresis. The HTS approach holds vast potential for improving success, accuracy, efficiency and standardization of microsatellite genotyping in ecological and conservation applications, especially those that rely on profiling of low-quantity/quality DNA and on the construction of genetic databases. We discuss and give perspectives for the implementation of the method in the light of the challenges encountered in wildlife studies.

Health education for prevalent problems in prison, Ocaña-I proyect (Spain).

OBJECTIVE: Pilot project focusing on the implementation and evaluation of a health education (HE) program for inmates of the prison of Ocaña I (Spain). The objective was to analyze the intentions for change in health habits and perceptions, and to assess whether the HE-program had differential effects depending on whether the participants belonged to the PAIEM or not and their socio-demographic characteristics. METHODOLOGY: The participants were 65 men, who answered an ad hoc questionnaire at the end of each session. Data analysis applied was univariate and bivariate (one-way ANOVA, t-test for Equality of Means and Chi-Square test). RESULTS: The average rating of the sessions was 3.51 out of 4 (SD = 0.62). The percentage of positive answers about the intention to adopt healthy habits was higher among non-PAIEM subjects (84.8%) than among those who were part of this program (57.9%). All subjects having a couple indicated an intention to change negative habits, compared to 67.3% for those without a couple. The percentage of subjects who said that their perception on the issue had changed was highest among those without education (89.7%) than among those with education (61.5%). CONCLUSIONS: The evaluation of implanted HE-program implemented in the Ocaña I prison was very positive, there are differences between subjects belonging to the PAIEM and those who do not.

Mental disorder prevalence and associated risk factors in three prisons of Spain.

AIMS: To determine the lifetime and monthly prevalence of people with mental disorders and its association with sociodemographic factors and criminal risk in three Spanish prisons (Ocaña, Madrid I, II and VI). METHOD: Cross-sectional epidemiological study of a sample of 184 inmates. Socio-demographic and criminal data were collected by an ad hoc interview. Mental disorders were assessed with the clinical version of the Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders Axis I Disorders (SCID-I). RESULTS: Life prevalence of mental disorders was 90.2%. The most common mental disorders and substance abuse or dependence was 72.3%, followed by mood disorder (38.5%) and psychotic disorders (34.2%). Moreover, the prevalence of any mental disorder in the last month was 52.2%. The main psychotic disorder (20.7%) was followed by substance abuse or dependence (18.5%), and mood disorder state (13%). A socio-demographic profile as a risk for each disorder was found. DISCUSSION: The prevalence of people with mental disorders is very high in Spanish prisons, and is associated with a distinct demographic profile. It is essential to continue researching this reality, translating the results into therapeutic and preventive action adapted to the status of inmates to reduce social inequalities in this high priority public health situation.

[Criteria of diagnosis and grading of oligodendrogliomas or oligo-astrocytomas according to the WHO and Sainte-Anne classifications]. / Oligodendrogliomes et oligo-astrocytomes critères diagnostiques et grading de malignité selon l'OMS et l'hôpital Sainte-Anne.

Two main classification systems are used in France for the histological typing and grading of oligodendrogliomas: the WHO and Sainte-Anne Hospital (SA) classifications. According to the WHO, the typing of diffuse gliomas is based on the predominant cell type, oligodendroglial versus astrocytic. In contrast, the SA classification is based on the distinction of two patterns of tumor growth, solid tumor tissue versus isolated tumor cells and also relies on imaging and clinical features. According to this approach, the SA classification includes in the category of oligodendrogliomas, the fibrillary or gemistocytic diffuse astrocytomas (WHO grade II) as well as a substantial proportion of astrocytomas WHO grade III, 2) the WHO uses multiple histological criteria for the grading of oligodendrogliomas (grade II versus grade III), including the degree of differentiation, cellular atypia, mitotic activity and necrosis. In contrast, the SA grading of these tumors (grade A versus B) only uses two criteria: the presence or absence of endothelial hyperplasia, and the presence or absence of contrast enhancement. This last criterion allows overcoming the problems related to the representativeness of surgical samples. Difficulties and discrepancies regarding the diagnosis of oligodendrogliomas are in part due to the lack of immunomarker for the identification of tumoral oligodendrocytes. The potential interest of new markers of oligodendroglial precursors for the diagnosis of these tumors will further be discussed.

[Reappraisal of the Sainte-Anne Hospital classification of oligodendrogliomas in view of retrospective studies]. / Classification des oligodendrogliomes de l'hôpital Sainte-Anne. Mise au point à l'usage des études rétrospectives.

PURPOSE: Definition of homogeneous tumor groups of oligodendrogliomas or oligo-astrocytomas is a basic condition for an adequate evaluation and comparison of the results of treatments in patients from various institutions. However, increasing discordances are observed in the histological diagnosis of these tumors. The main goal of this study is to assess whether, for retrospective studies, MRI data may serve as a common basis for encompassing asymmetry in diagnosis established according to the WHO or Ste-Anne (SA) classification. PATIENTS AND METHODS: This study included 251 adult patients in whom a SA grade A or B oligodendroglioma or oligo-astrocytoma was newly diagnosed at our institution from 1984 to 2003. Routine histological preparations and post-contrast preoperative MRI/CT-scan were simultaneously reviewed in order to assess the impact on survival of the following features: presence or absence of a polymorphous or gemistocytic astrocytic component, of necrosis and of contrast enhancement (CH); endothelial hyperplasia (EH) assessed as absent, present minor (HE+) or (HE++) when conform to the threshold of HE defined in the SA grading system of oligodendrogliomas. The tumors were graded A: no CH and no EH; in B: CH and /or HE++, and A/B: EH + but no CE. RESULTS: 70.1% of the tumors were classified as "pure" oligodendroglioma, 19.5% as "polymorphous oligo-astroastrocytoma" and 10.3% as "gemistocytic oligo-astrocytoma". In grade A, or B tumors, the presence of a polymorphous or a gemistocytic component had no significant influence on survival; however respectively 53% and 65% of these tumours versus 32% of "pure" oligodendrogliomas were grade B at the time of diagnosis. In either histological subtypes, survival was not significantly different when HE was absent or minor (HE+). After regrouping of the histological subtypes and of the tumors with HE+ or absent, the series included 153 oligodendrogliomas grade A and 98 grade B. Survival in patients with grade A versus grade B tumors was respectively 142 versus 52 months (p<0.0001). In grade B tumors, necrosis had no significant influence on survival. Ring-shaped contrast enhancement surrounding large foci of necrosis was observed in only 4 cases. In tumors with or without CE, patient survival was respectively 148 versus 40 months (p<0.0001). On post contrast MRI done in 235 patients, only 7 tumors (3%) were grade A/B (EH++ but no CH). CONCLUSIONS: From these results and our previous observation that, according to the SA classification of gliomas, only oligodendrogliomas or oligo-astrocytomas may not show CE, we propose that for retrospective studies: 1) tumors diagnosed according to the Ste-Anne classification as oligodendroglioma or oligo-astrocytoma be regrouped in a unique category, 2) independent of their histological type and grade according to the WHO, gliomas that do not show CE be regrouped with SA oligodendrogliomas grade A, 3) concerning gliomas that show CE on MRI: oligodendrogliomas or oligo-astrocytomas WHO grade II or III, as well as WHO secondary glioblastomas or glioblastomas with an oligodendroglial component, be regrouped with SA oligodendrogliomas grade B; however tumors that show ring-like CE surrounding large foci of necrosis and finger-like "peritumoral" edema should be excluded or analysed separately.

Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence.

Herlitz junctional epidermolysis bullosa, a severe epidermal blistering disorder, is inherited in an autosomal recessive manner. It has recently been shown that, in kindreds with junctional epidermolysis bullosa, the disorder results from mutations in the gamma 2 chain of laminin-5, a basement membrane protein synthesized by the basal cells of stratifying squamous epithelia. In this report we describe a mutation identified in the beta 3 chain gene of laminin-5 in a family with Herlitz junctional epidermolysis bullosa. The disease is caused by a homozygous deletion of 1 bp that leads to a frameshift and premature termination codon. The segregation of the mutated allele in the family is consistent with the pathogenic role of the mutation. We also report a direct DNA-based prenatal exclusion of Herlitz junctional epidermolysis bullosa in a pregnancy at risk using a chorionic villus biopsy and allele-specific oligomer hybridization from polymerase chain reaction-amplified genomic DNA.

[Guided coronary atherectomy: preliminary results]. / Aterectomía coronaria dirigida: resultados preliminares.

Coronary atherectomy implies removing atheromatous material from the diseased coronary arterial wall. This technique has emerged as an attractive alternative to conventional percutaneous transluminal coronary angioplasty procedures, in an attempt to diminish both initial procedural failure and restenosis rate. Among different technologies, the Simpson's atherotome provides a means of performing directional (i.e. selective) coronary atherectomy (DCA). This device implements a coaxial catheter which is advanced into the lesion over a steerable guidewire. Its distal tip includes a hollow metallic cylinder with a lateral window. Removal of the material is accomplished by a rotating cutter which can be moved distally, once the device's window has been orientated facing the lesion. We have performed 14 DCA in 14 patients. Mean age was 58 years and 12 patients were male. The technique was indicated for unstable angina (7 patients), stable angina (4 patients) and silent myocardial ischemia (3 patients). Fifteen lesions were attempted (13 original and two with restenosis), located as follows: nine in the left anterior descending coronary artery, three in the right coronary artery and three in the left circumflex artery. Eleven lesions were proximal and four were located in mid coronary segments. Twelve lesions (80%) were eccentric, and five (33%) were irregular. Initial angiographic success (residual stenosis less than 50%) was obtained in all 15 lesions (100%). Pre-DCA stenosis was 84 +/- 5% and post-DCA stenosis was 16 +/- 6%. There was no need for urgent coronary artery by-pass surgery and no patient developed an acute myocardial infarction in relation to the procedure. A 82-year-old woman died after the procedure in cardiogenic shock.(ABSTRACT TRUNCATED AT 250 WORDS)