Rapid single-step detection of the inversion hotspot of mutation in hemophilia A by real-time PCR.
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Chromosome Inversion↗
Biomedical subjects
L Ramírez
Publications and source records attributed to L Ramírez.
Sensorineural deafness in two infants: a novel feature in the 22q distal duplication syndrome. Cardinal signs in trisomies 22 subtypes.
Sensorineural deafness in two infants: a novel feature in the 22q distal duplication syndrome. cardinal signs in trisomies 22 subtypes: Distal trisomy 22 has been described in more than 15 individuals. The features are severe mental and growth retardation, failure to thrive, congenital hypotonia, hydrocephalus, microcephaly, cleft palate, epicanthic folds, low-set ears, broad prominent nasal bridge, long philtrum, micrognathia, finger-like thumbs, cryptorchidism. We describe a girl deceased at the age of 12 years and an 11 year old boy, both with a duplication of distal 22q due to a parental pericentric inversion (22) (p13q12). Their phenotypes are compatible with distal trisomy of chromosome 22. However, they did not present cleft palate, but the survival of both patients permitted us to discover sensorineural deafness not previously reported in this chromosomal duplication.
Abnormalities, Multiple↗
Use of molecular markers to differentiate between commercial strains of the button mushroom Agaricus bisporus.
Agaricus bisporus is an edible basidiomycete cultivated industrially for food production. Different spawn and mushroom producers use genetically related A. bisporus strains frequently marketed as different products. In this paper we show that the use of suitable molecular markers reveals the high level of genetic homology of commercial strains of A. bisporus, and allows, at the same time, to distinguish between them. In the course of this work, a molecular marker potentially linked to the agronomic character 'mushroom weight' has been identified by bulked segregant analysis.
Agaricus↗
Synthesis, isolation and characterization of Plasmodium falciparum antigenic tetrabranched peptide dendrimers obtained by thiazolidine linkages.
Different chemical alternatives were evaluated for obtaining immunogenic polypeptidic macromolecules which could then be used as vaccines. These were based on the ligation reaction between an unprotected immunogenic peptide and an unprotected multifunctional core peptide; polyantigens, designated dendrimers because their form resembles that of dendritic cells, were thus obtained. The antigen-core ligation alternatives, studied by indirect synthesis, were the formation of oxime, hydrazone and thiazolidine linkages, making use of the reaction between a weak base (acting as nucleophile) and an alkyl aldehyde. The other alternative was the formation of a thioether linkage between a sulfydryl and an alkyl halide. Finally, a multiple antigen peptide (MAP) was synthesized by direct synthesis. All reactions were monitored by SEC-HPLC and SDS-PAGE. Dendrimer molecular mass obtained was confirmed by MS MALDI-TOF. Dendrimer purification was first carried out by concentrating crude reaction products with CP-5000 centricons and (using SEC-HPLC) pure tetramers were then obtained. A 20-residue 9376 immunogenic sequence, from Plasmodium falciparum apical merozoite antigen protein (AMA-1), was used to study the best alternative for chemical ligation. It was observed that thiazolidine formation proceeded with greater yield and in less time than the others. A tetramer has been simultaneously synthesized via thiazolidine with the SPf-66 antimalarial vaccine 45-residue monomer, proving the technique's versatility. The 9376 peptide disulfide bound polymer and SPf-66 (as well as their tetrameric thiazolidine dendrimers) were inoculated in rabbits to evaluate their antibody response. It was observed that titers for tetrameric thiazolidine dendrimers were not just greater but were also sustained over time. Western blot for pre-immune and immune sera showed that dendrimer sera recognized specific Plasmodium falciparum proteins as well as disulfide-bound polymers.
Aldehydes↗
Efficacy, safety and predictive factors of therapeutic success with sildenafil for erectile dysfunction in patients with different spinal cord injuries.
STUDY DESIGN: Multicenter, open, prospective, before-after study. OBJECTIVE: To assess the efficacy and safety of sildenafil therapy for erectile dysfunction in patients with spinal cord injury, and the association between the response to sildenafil and factors such as causes and levels of spinal cord injury, grade of ASIA deficit, time since injury, orgasmic perception, and degree of baseline erection. SETTING: Homes of outpatients of 16 spinal cord injury units in Spain. METHOD: One hundred and seventy patients with erectile dysfunction secondary to spinal cord injury, from whom baseline data were collected on their sexual function, and who started treatment with sildenafil 50 mg. An efficacy assessment was made by the patient and his partner, and the score of the International Index of Erectile Function (IIEF) was recorded. RESULTS: It was reported by 88.2% of the patients and 85.3% of their partners that treatment with sildenafil had improved their erections, regardless of the baseline characteristics of the spinal cord injury and erectile function. In responders, this improvement was confirmed by an increase from 12.5 to 24.8 points (P<0.001) of the Erectile Function Domain of IIEF. A significant improvement was also seen in patients' satisfaction with sexual activity and general satisfaction derived from sexual life. Preservation of orgasmic perception and a baseline degree of erection of 3 or 4 (P=0.006) were predictors of therapeutic success. No serious adverse events occurred. CONCLUSION: Sildenafil is an effective, well-tolerated treatment for erectile dysfunction caused by spinal cord injury, regardless of the cause, neurological level, ASIA grade, and time since injury. SPONSORSHIP: Spanish Society of Paraplegia.
Adult↗
Decremental atriofascicular accessory pathway with bidirectional conduction: delineation of atrial and ventricular insertion by radiofrequency current application.
A 17-year-old girl with a corrected complex congenital heart disease and recurrent episodes of supraventricular tachycardia was referred for catheter ablation. Electrophysiologic studies revealed the presence of an accessory pathway (AP) with bidirectional conduction and decremental properties. We demonstrated a course parallel to the node-His AV conduction system. Transient abolition of the bidirectional conduction through the AP was obtained by radiofrequency application to the ventricular insertion located in the distal right bundle branch and to the atrial insertion, located in the mid-anterior atrial septum. Radiofrequency application at the low anterior atrial septum, above the His bundle, successfully abolished AP conduction without affecting AV nodal conduction. Demonstration of the course and insertions of the AP, its bidirectional decremental conduction properties, and the association with a complex congenital heart disease are exceptional and interesting findings and raise the possibility of an accessory AV node with a parallel conduction pathway to the right bundle branch.
Adolescent↗
Effects of an exercise program on the rehabilitation of patients with spinal cord injury.
OBJECTIVES: To evaluate the impact of directed physical exercise in patients with spinal cord injury (SCI) and to measure functional independence before and after an exercise program. DESIGN: Case series. SETTING: Tertiary care center. PARTICIPANTS: Thirteen volunteers with thoracic SCI. INTERVENTION: Patients participated in a 16-week exercise program, consisting of 3 weekly 120-minute sessions. They performed mobility, strength, coordination, aerobic resistance, and relaxation activities. MAIN OUTCOME MEASURES: The FIM instrument, arm crank exercise test, wheelchair skills, maximum strength, anthropometry (body composition measurements), and lipid levels. The results were processed by using nonparametric statistical tests. RESULTS: After comparing the values at the beginning and end of the program, patients showed a significant increase in the following parameters: average FIM score (p < .001) 113 +/- 7.1; weight lifted in the bench press exercise (46%, p < .0001), military press (14%, p < .0002), and butterfly press exercise (23%, p < .0001), and number of repetitions for biceps (10%, p <.0001), triceps (18%, p < .0001), shoulder abductors (61%, p < .0001), abdominals (33%, p <.009), and curl back neck exercise (19%, p < .0001). The maximum resistance achieved during the arm crank exercise test increased (p < .001), and heart rate 6 minutes after the exercise test decreased (p <.05). The time required for the wheelchair skill tests significantly decreased in all the tasks. No statistically significant changes occurred in body weight (p < .154), percentage of body fat (p < .156), lean body weight (p < .158), cholesterol/high-density lipoprotein cholesterol ratio (p < .076), or maximum heart rate (p < .20). The only complication arose in a patient who developed transient sinus bradycardia and hypotension after the arm crank exercise test. CONCLUSION: The directed exercise program had a positive impact for most of the variables of the study.
Adolescent↗
Relationship between monokaryotic growth rate and mating type in the edible basidiomycete Pleurotus ostreatus.
The edible fungus Pleurotus ostreatus (oyster mushroom) is an industrially produced heterothallic homobasidiomycete whose mating is controlled by a bifactorial tetrapolar genetic system. Two mating loci (matA and matB) control different steps of hyphal fusion, nuclear migration, and nuclear sorting during the onset and progress of the dikaryotic growth. Previous studies have shown that the segregation of the alleles present at the matB locus differs from that expected for a single locus because (i) new nonparental B alleles appeared in the progeny and (ii) there was a distortion in the segregation of the genomic regions close to this mating locus. In this study, we pursued these observations by using a genetic approach based on the identification of molecular markers linked to the matB locus that allowed us to dissect it into two genetically linked subunits (matBalpha and matBbeta) and to correlate the presence of specific matBalpha and matA alleles with differences in monokaryotic growth rate. The availability of these molecular markers and the mating type dependence of growth rate in monokaryons can be helpful for marker-assisted selection of fast-growing monokaryons to be used in the construction of dikaryons able to colonize the substrate faster than the competitors responsible for reductions in the industrial yield of this fungus.
Alleles↗
Left ventricular function and autonomic nervous system balance during two different stages of the menstrual cycle.
We studied the left ventricular function and cardiac autonomic nervous system balance variations during two different stages of the menstrual cycle. These two variables, as well as plasmatic estradiol and progesterone concentrations, were measured in a drug-free state in 20 women (29+/-6 year-old) with regular menstrual periods. A clinical evaluation, an echo-Doppler and a Valsalva manoeuvre were performed in all the patients on the third day of their menstrual cycle (follicular phase) and three days prior to their next menstrual cycle (luteinizing phase). When comparing the results obtained in these two phases, a statistically significant increase was put forward in plasmatic estradiol (50.6+/-24 vs. 127.3+/-52.8 pg/ml) and progesterone (0.37+/-0.42 vs. 11.92+/-10.8 ng/ml) concentrations, Valsalva index (1.55+/-0.22 vs. 1.67+/-0.33; P=0.044) and E/A mitral wave ratio (1.63+/-0.36 vs. 1.75+/-0.35, P=0.02). The right and left atrial volumes, left ventricular volumes and ejection fraction were similar in the two menstrual phases studied. We conclude that the autonomic nervous system balance and the left ventricular diastolic function suffer significant changes during the luteinizing phase of the menstrual cycle in normal women.
Adult↗
[Cardioinhibitory vagal response not related to pain, and induced by radiofrequency application during ablation of right posteroseptal accessory pathway].
Inappropriate sinus tachycardia is the most common arrhythmia induced by radiofrequency energy delivery in the posteroseptal area. It has been suggested that this could be secondary to parasymphathetic nerve injury. We report a patient with extreme sinus bradycardia and PR interval prolongation induced by radiofrequency energy delivered in the coronary sinus ostium area, but not related to any other stimulus. The most probable mechanism of the disorder was transient stimulation of the vagal afferent nerve fibers located in this anatomical area.
Autonomic Pathways↗
[Oblique orientation of the accessory pathway demonstrated by radiofrequency application].
Activation mapping of atrial and ventricular insertion has suggested an oblique orientation of some accessory pathways. However, this aspect has not been demonstrated by radiofrequency application. This report presents two patients with Wolff-Parkinson-White syndrome and an accessory pathway with bidirectional conduction and oblique orientation. The accessory pathway oblique orientation was demonstrated by transient and permanent conduction abolition following radiofrequency application in two separate ventricular and atrial sites. These findings may explain the failure to ablate accessory pathway by radiofrequency application in the ventricular side of the mitral annulus guided by retrograde atrial activation occasionally observed in patients with a concealed accessory pathway.
Catheter Ablation↗
Genetic linkage map of the edible basidiomycete Pleurotus ostreatus.
We have constructed a genetic linkage map of the edible basidiomycete Pleurotus ostreatus (var. Florida). The map is based on the segregation of 178 random amplified polymorphic DNA and 23 restriction fragment length polymorphism markers; four hydrophobin, two laccase, and two manganese peroxidase genes; both mating type loci; one isozyme locus (est1); the rRNA gene sequence; and a repetitive DNA sequence in a population of 80 sibling monokaryons. The map identifies 11 linkage groups corresponding to the chromosomes of P. ostreatus, and it has a total length of 1,000.7 centimorgans (cM) with an average of 35.1 kbp/cM. The map shows a high correlation (0.76) between physical and genetic chromosome sizes. The number of crossovers observed per chromosome per individual cell is 0.89. This map covers nearly the whole genome of P. ostreatus.
Chromosome Mapping↗
Pregnancy-related mortality in Guatemala, 1993-1996.
To select the proper interventions that could prevent maternal mortality, adequate and appropriate maternal mortality data are needed. Nevertheless, the quality and quantity of information and the scope of maternal health- and death-related data are inadequate in many countries, particularly in the developing world. From January 1993 to December 1996 a surveillance program in maternal mortality was developed to conduct surveillance studies in the department of Guatemala, Guatemala. With an active surveillance system, our approach gave a more complete picture of maternal death and produced information on the specific causes of maternal mortality. Using multiple sources of information, we reviewed and analyzed all deaths of women of childbearing age (10 to 49 years). Each death was investigated to determine whether it was pregnancy-related or not. The maternal mortality ratio for the four-year study period was 156.2 deaths per 100,000 live births. Women 35 and older had a higher risk of maternal death than women under that age. Women who were 35-39 years old had a maternal death risk almost three times as high as women aged 20-24. For women who were 40 or older the risk was more than double that of women 20-24 years old. Overall, the two leading causes of maternal mortality were infection and hemorrhage. Vaginal deliveries where there was medical assistance had the highest rate of delivery-related maternal death from general infection. In deliveries attended by nonmedical personnel, delivery-related maternal deaths from hemorrhage were most frequently associated with retained placenta. Developing countries are called on to implement systems that can provide continuous and systematic data collection so that policymakers and health managers have adequate information to design proper interventions to save women's lives.
Adolescent↗
[Improving the quality of clinical interview teaching: evaluation of an intervention with medical students].
BACKGROUND: Quality of clinical interview is a key issue both for patient satisfaction and for diagnostic efficiency. Its adequacy relates to better clinical diagnosis treatment plans and patient compliance. AIM: To measure the quality of interviews performed by medical students in three Chilean medical schools before receiving specific training on the subject and to compare the scores obtained after introductory courses on interview. MATERIAL AND METHODS: The interviews were videotaped and then evaluated using an objective scale, that measures 33 skills grouped in six areas: opening, problem exploration, non verbal facilitation, interpersonal patient reaction and closing. The students were assigned to an experimental group that received an interactive workshop with role-plays, vignettes and videotape feedback, and to a non intervention group that received the usual bedside training on medical interviews. RESULTS: Both groups shared the same skill level before the training, with better scores on nonverbal, patient reaction and problem exploration, and worse ones on closing and interpersonal skills. Comparing pre and post-test results, the overall score improved in the experimental group (from 33.2 to 38.3, p = 0.002) and worsened among non intervened students. There were statistically significant changes for opening (p < 0.002), problem exploration (p < 0.05), non verbal facilitation (p < 0.0001) and closing (p < 0.0001). CONCLUSIONS: It is important to train students not only in specific knowledge contents but in the process of interview. This training should encourage the development of empathy and closing skills.
Education, Medical, Undergraduate↗
Molecular tools for breeding basidiomycetes.
The industrial production of edible basidiomycetes is increasing every year as a response to the increasing public demand of them because of their nutritional properties. About a dozen of fungal species can be currently produced for food with sound industrial and economic bases. Notwithstanding, this production is threatened by biotic and abiotic factors that make it necessary to improve the fungal strains currently used in industry. Breeding of edible basidiomycetes, however, has been mainly empirical and slow since the genetic tools useful in the selection of the new genetic material to be introduced in the commercial strains have not been developed for these fungi as it was for other organisms. In this review we will discuss the main genetic factors that should be considered to develop breeding approaches and tools for higher basidiomycetes. These factors are (i) the genetic system controlling fungal mating; (ii) the genomic structure and organisation of these fungi; and (iii) the identification of genes involved in the control of quantitative traits. We will discuss the weight of these factors using the oyster mushroom Pleurotus ostreatus as a model organism for most of the edible fungi cultivated industrially.
Alleles↗
Identification of incompatibility alleles and characterisation of molecular markers genetically linked to the A incompatibility locus in the white rot fungus Pleurotus ostreatus.
Pleurotus ostreatus is a hetertothallic homobasidiomycete whose mating is controlled by a bifactorial tetrapolar genetic system. Although this mechanism is well accepted, there is a lack of knowledge about its molecular basis, as the incompatibility loci have not been cloned and sequenced. As a first step towards the elucidation of the molecular structure of the A-type incompatibility locus, molecular markers have been isolated which correspond to genomic sequences present in different strains of P. ostreatus but not in other higher basidiomycetae. These markers reveal single-copy genetic regions in which some degree of genetic variability can be detected.
Alleles↗
Molecular karyotype of the white rot fungus Pleurotus ostreatus.
The white rot fungus Pleurotus ostreatus is an edible basidiomycete with increasing agricultural and biotechnological importance. Genetic manipulation and breeding of this organism are restricted because of the lack of knowledge about its genomic structure. In this study, we analyzed the genomic constitution of P. ostreatus by using pulsed-field gel electrophoresis optimized for the separation of its chromosomes. We have determined that it contains 11 pairs of chromosomes with sizes ranging from 1.4 to 4.7 Mbp. In addition to chromosome separation, the use of single-copy DNA probes allowed us to resolve the ambiguities caused by chromosome comigration. When the two nuclei present in the dikaryon were separated by protoplasting, analysis of their karyotypes revealed length polymorphisms affecting various chromosomes. This is, to our knowledge, the clearest chromosome separation available for this species.
Base Sequence↗
Identification, characterization, and In situ detection of a fruit-body-specific hydrophobin of Pleurotus ostreatus.
Hydrophobins are small (length, about 100 +/- 25 amino acids), cysteine-rich, hydrophobic proteins that are present in large amounts in fungal cell walls, where they form part of the outermost layer (rodlet layer); sometimes, they can also be secreted into the medium. Different hydrophobins are associated with different developmental stages of a fungus, and their biological functions include protection of the hyphae against desiccation and attack by either bacterial or fungal parasites, hyphal adherence, and the lowering of surface tension of the culture medium to permit aerial growth of the hyphae. We identified and isolated a hydrophobin (fruit body hydrophobin 1 [Fbh1]) present in fruit bodies but absent in both monokaryotic and dikaryotic mycelia of the edible mushroom Pleurotus ostreatus. In order to study the temporal and spatial expression of the fbh1 gene, we determined the N-terminal amino acid sequence of Fbh1. We also synthesized and cloned the double-stranded cDNA corresponding to the full-length mRNA of Fbh1 to use it as a probe in both Northern blot and in situ hybridization experiments. Fbh1 mRNA is detectable in specific parts of the fruit body, and it is absent in other developmental stages.
Agaricales↗