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Biomedical subjects

J A Blanco

Publications and source records attributed to J A Blanco.

17 recordsLinked to original sources
PubMed2005

[Laparoscopy in chronic abdominal pain in children].

UNLABELLED: The recurrent chronic abdominal pain (RAP) is one of the most usual pathologies in pediatrics. It may appear in the form of periodical or continuous sharp crisis. In order to be accepted as chronic, the presence of this pain must last at least 3 months. In many of the reference publications, only between 5 and 1% of the cases are considered to have an organic ethiology and the rest are labelled as functional processes of psychological origin. The reason for our communication is to show our experience on 304 RAP patients from 1995 to 2001. We also want to highlight the usefulness of laparoscopy in order to diagnose and treat 14.45% (44) of cases of this group of patients. MATERIAL AND METHODOLOGY: 304 patients between 5 and 14 years old were studied from 1995 to 2001. We followed a protocol of: medical and personal medical record, specific anamnesis for RAP, detailed description of the diet and intestinal habits, physical exploration. Laboratory: 1) blood analysis, hepatic profile, glucose, cholesterol, creatinine, amylase, 2) urine sediment and may be urine culture, 3) faeces analysis and 4) vaginal flow analysis. Image diagnosis is: simple abdomen radiography, ultrasonography and intestinal Rx. Guided and specific determinations: spired urea test, gastric chemism, lactose test, gastroscopy and biopsy, colonoscopy and biopsy, laparoscopy. RESULTS: In short, we can say: 74 patients (23.4%) come with inappropiate feeding diets, 31 (10.1%) with helicobacter pilori, 20 (6.5%) with adenoids, pharynx and pharyngeal processes, the same figure from gynaecologic origin, 18 (5.9%) from psychological origin, and in 44 cases (14.45%) laparoscopy was indicated. CONCLUSIONS: The anatomopathological study in the cases in which we carried out laparoscopic appendicectomy does not allow us to accept the symptoms of chronic appendicitis. The exploratory laparoscopy and the appendectomy have meant benefits for the solution to this pathology in 14.45% of patients. It is essential to carry out a long-term follow-up, at least 12 months, to be sure RAP is cured. We must carry on looking for aetiological cause of RAP.

Abdominal Pain↗
PubMed2004

[Surgical treatment of a pheocromocytoma bilateral in a 5 year old patient with the von Hippel-Lindau disease].

INTRODUCTION: The disease of Von Hippel Lindau (VHL) is hereditary and causes a predisposition to the development of tumours. Organs such as the cerebellum, the pancreas, the kidney, the suprarenal glands and the retina are more usually affected by this disease. CLINICAL CASE: We present the case of a 5-year-old patient who suffers from asiymptomatic high blood pressure. In the family antecedents, it is relevant the case of the father, with pheocromocytoma bilateral, which led us to carry out a genetic study of his two sons. Our patient, the younger; presented a mutation of the VHL gene in the short arm of the chromosome 3. In one of the periodic controls, it could be detected high blood pressure of 160/100 mm. Hg, clinically asymptomatic. The other child did not present a genetic mutation and has no disease. The presence of high catecholamines, the detection of a 3 cm left suprarenal mass through the ecography, the TAC that did not show a right suprarenal pathology and the MBIG scintigraphy confirmed the diagnostic of pheocromocytoma. The RNM showed another 0.8-cm mass which confirmed a pheocromocytoma bilateral. We started the treatment against high blood pressure with fenoxibenzamine and diltiazem, and we controlled this problem. We also prepared the pre-and-post operation anesthetic strategy, which is so important for the surgical success. The operation started by a laparoscopic, we made left adrenalectomy and we had to reconvert to laparotomy to make partial right adrenalectomy. Six months after the operation, the patient is free from symptomatology and follows a treatment with glucocorticoides with smaller and smaller doses. COMMENTS: The case is exceptional because it embodies the following characteristics: early diagnostic age, family affectation and discovery of asymptomatic high blood pressure. It needed an appropriate preanesthetic and anesthetic preparation, which gave way to an operation without complications. The postoperation was also stable and presented no complications.

Adrenal Gland Neoplasms↗
PubMed2003

[Usefulness of transrectal ultrasonography in the diagnosis of anomalies of intersexual conditions].

INTRODUCTION: Between the external genital exploration and the internal genital direct vision, through laparoscopia, there is a black point which is the pelvic floor; we have to know whether there is a vagina or not, what it is like and where it arrives at. The reason for this research is to present our experience with the transrectal ecography, which allows us a very good exploration of the pelvic floor. MATERIAL AND METHODS: We present 6 patients, the youngest is 16 months old and the oldest is 19 years old, who have a diagnostic of 3 congenital adrenal hyperplasia (HSC), 2 gonadal dysgenesis and 1 vaginal agenesis (S. Rokitanski). Under sedation, we carried out a transrectal ecography with Aloka SSD650 ecograph and 7.5 MHz vaginal scanner. Ultrasone. RESULTS: In case of HSC (16 months old), the transrectal ecography showed the vaginal arrival at the urethra and we were able to measure the distance from the external sphincter. In the other two HSC, which had been surgically corrected, the transrectal ecography clearly showed the vagina (length and calibre). In the two gonadal dysgenesis (two 11-and-19-year-old sisters, the first of whom had undergone vulvo-vaginoplasty, we appreciated the length of the vagina and, in the case of the sister with a relatively normal vagina, we confirmed the presence of the vagina connected to the uterus. In the vaginal agenesis, in which a neovagina with amnion membrane had been carried out, which, in its turn, ended in a situation of hematometra due to a stenosis, the transrectal ecography was really helpful to obtain vaginal dilatations. CONCLUSIONS: Ecography is an easily available technique and provides both through and detailed information of the genital structures going through the pelvic floor, a zone which is otherwise difficult to explore. It was done under sedation for the patient's age and idiosyncrasy. The experience has just started but we are sure that in the future it will replace the genitograma.

Adolescent↗
PubMed2003

[Intestinal myopathy in Steinert's disease].

The myothonic dystrophy or Steinert's disease is a congenital, autosomal, dominant disorder which seriously affects the striated muscle and also to a certain extent, several organs and systems and on rare occasions, the intestinal smooth muscle. In the case, we treated a four years old girl in whom Steinert's disease was diagnosed when she was born and who developed the characteristics of severe constipation after a few months of life. The ano-rectal manometry showed a paradoxical reaction of external Sphincter with a normal inhibitory reflex. The rectal biopsy revelated a miophathy which affected the muscularis propia with the normal neuronal innervation. The X-ray studies showed that motility disorder was stopped in the distal area of the left colon. A colostomy in the healthy zone worked extremely well. Six months later, the normal colon was brought down retro-rectal. Only a partial incontinence remained in the external sphincter caused by Steinert's disease. The interest of this case lies in the pathological association, striade muscle and smooth muscle, in such an early age of life. It is a new contribution to the complex chapter of the intestinal pseudo-obstruction.

Child, Preschool↗
PubMed2001

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↗
PubMed2000

4'-N-methyl-5'-hydroxystaurosporine and 5'-hydroxystaurosporine, new indolocarbazole alkaloids from a marine Micromonospora sp. strain.

Two new indolocarbazole alkaloids, 4'-N-methyl-5'-hydroxystaurosporine (2) and 5'-hydroxystaurosporine (3), were isolated together with the known staurosporine (1) from the culture broth of a marine Micromonospora sp. (strain L-31-CLCO-002). The fermentation, structural data and cytotoxic activities of these compounds against various tumor cell lines are given.

Alkaloids↗
PubMed2000

[Choroidal tubercles in miliary tuberculosis].

OBJECTIVE/METHOD: We present 2 cases of miliary tuberculosis with choroidal tubercles. RESULTS/CONCLUSIONS: Miliary tuberculosis is a severe disease that may cause death in case of misdiagnosis, but might be resolved with an adequate mycobacterial therapy. The diagnosis was based on a combínation of findings and the presence of choroidal tubercles may play an important role in the final diagnosis and correct treatment.

Adult↗
PubMed1999

Post-Paget telangiectatic osteosarcoma of the skull.

Sarcomatous transformation is the most dreaded complication of Paget's disease. We report on a case of post-Paget telangiectatic osteosarcoma of the skull, a variant of osteogenic osteosarcoma, in a 79-year-old woman. We discuss the radiological pattern in relationship to the differential diagnosis.

Aged↗
PubMed1999

[Radio-guided surgery with MIBG in a case of abdominal neuroblastoma].

Radio-guided surgery is a new technique which can provide benefits for pediatric oncology, as in our patient with neuroblastoma in stage IV, that after a chemotherapy, surgical, radiotherapy and autologous bone marrow transplant treatment kept showing, at 2 years, residual tumoral fragments and increase of catecholamines. Radio-guided surgery allowed an easy and exact location. This technique decreases surgery time and let us find residual tumoral tissue no matter how small. With radio-guided surgery we can obtain higher survival and even cure the patient.

3-Iodobenzylguanidine↗
PubMed1997

[The mixed gonadal dysgenesis. Diagnostic criteria and surgical treatment].

The Mixed Gonadal Dysgenesis represents the 7.6% of all our patients with intersexual states. We report 14 patients who present Mixed Gonadal Dysgenesis. We have studied: diagnosis age; external genitalia description; sex assigned in birth and if has changed; the karyotype; sex chromatine; hormonal study; genitography; internal genitalia and internal Mullerians ducts structures; gonadal histologycal study; surgical treatment and hormonal treatment. The results show that 50% of the cases presents a 46XY karyotype and the other 50% mosaicisme 45XO/46XY. The histological study is very distinctive. A vulvovagynoplasty and clitoroplasty was made in all the cases. Four patients must follow an hormonal treatment after reaching puberal age. Summing up, with patients having ambiguous genitalia we can suspect it consists of a Mixed Gonadal Dysgenesis. The diagnosis must be precocious. And this diagnosis will be based in an ambiguous genitalia, with a karyotype 46XY or 45XO/46XY, the persistence of the internal Müllerian duct structures, and the histological study with a dysgenetic testis. These patients should be raised as females because they can obtain a good morphological and functional development like a normal female.

Child, Preschool↗
PubMed1994

[Pubertal idiopathic gynecomastia].

14 boys with pubertal gynecomastia, aged 9 to 16 years, were presented. Physical assessment, including pubertal maturation, height, weight, bone age, pubic hair stage, testicular and penis calibre and degree of gynecomastia was determined. Sexual steroids, LH-FSH, prolactin, were studied. All patients had psychological stress. 11 patients had been treated surgically by mastectomy with success.

Adolescent↗
PubMed1992

The role of the TATA-binding protein in the assembly and function of the multisubunit yeast RNA polymerase III transcription factor, TFIIIB.

The Saccharomyces cerevisiae RNA polymerase III transcription factor (TF)IIIB has been assembled from three components. An assembly pathway of these polypeptides, which specifies their interactions, has been determined. The TATA-binding protein, TBP, and the TFIIB-related BRF1 gene product BRF, together reconstitute the transcription factor activity and TFIIC-dependent DNA-binding activity of the B' component of TFIIIB. BRF alone weakly binds to a TFIIIC-tRNA gene complex; TBP greatly stabilizes this interaction. B" transcription factor activity is recovered with its previously identified 90 kd polypeptide from SDS-polyacrylamide gels. Incorporation of the 90 kd B" protein into the transcription complex requires TBP. The heparin-resistant TFIIIB-DNA complex retains all three of its constituent proteins, TBP, BRF, and B".

Base Sequence↗
PubMed1992

Formation of open and elongating transcription complexes by RNA polymerase III.

The Saccharomyces cerevisiae transcription factors (TF) IIIB and IIIC assemble onto their respective DNA-binding sites on the SUP4 tRNA(Tyr) gene at 0 degrees C. RNA polymerase III specifically associates at 0 degrees C with this TFIIIC-TFIIIB-DNA complex to form a stable "closed" promoter complex in which the DNA surrounding the transcriptional start retains its duplex form. Promoter "opening" is a temperature-dependent and readily reversible process that involves up to 22 unwound base-pairs of DNA, and can be followed by analyzing the hyperreactivity of thymine to KMnO4 oxidation. This promoter opening increases progressively from 10 degrees C to 40 degrees C, with at least two regions within the transcription bubble appearing to melt independently. In contrast, the temperature dependence of forming an initiated transcription complex containing a 17 nucleotide nascent RNA chain displays a sharp transition between 10 degrees C and 15 degrees C. When RNA polymerase initiates transcription under conditions that limit the nascent RNA chain to less than six nucleotides, there is no displacement of the transcription bubble. These transcription complexes are distinguishable from "open" promoter complexes in their maintenance of the transcription bubble at 0 degrees C, and from transcription complexes with more extended (17 nucleotide) RNA chains in their sensitivity to disruption by heparin. In light of recent results by others that demonstrate a requirement for an RNA transcription factor in a Bombyx mori-based in vitro RNA polymerase III transcription system, we have searched for a comparable component in the S. cerevisiae-derived system. We show that if an RNA component is required in the yeast-derived system, it is not susceptible to inactivation by massive amounts of micrococcal nuclease, RNase A, or RNase T1.

Base Sequence↗
PubMed1991

Two essential components of the Saccharomyces cerevisiae transcription factor TFIIIB: transcription and DNA-binding properties.

RNA polymerase III transcription factor TFIIIB from Saccharomyces cerevisiae contains at least two polypeptides, with apparent masses of 90 and 70 kDa, that were previously identified by photocrosslinking to DNA. It is shown here that TFIIIB can be chromatographically separated into two components, each of which is required for efficient tRNA gene transcription. DNA-protein photocrosslinking experiments show these two components separately contain the 90- and 70-kDa TFIIIB-specific polypeptides. The 70-kDa component forms a heparin-sensitive complex with transcription factor TFIIIC and DNA, stabilizes TFIIIC interaction with the tRNA gene promoter elements, and protects against DNase I digestion in the 3' portion of the upstream DNA sequence that is occupied by TFIIIB. The 90-kDa component of TFIIIB, which only detectably interacts with the TFIIIC-DNA complex when the 70-kDa component is also present, generates the complete DNase I protection pattern of TFIIIB and bestows heparin-insensitivity on the TFIIIB-DNA complex. The resolution of TFIIIB into two functional components further defines the probable steps and interactions involved in the formation of stable transcription complexes.

Chromatography, Ion Exchange↗
PubMed1986

[First infantile liver transplants in Spain].

For the first time in Spain, authors report the experience, started by the Hospital Infantil "Valle de Hebron" of Barcelona on pediatric liver transplant in terminal liver disease in childhood which means a new opportunity for these patients otherwise facing a fatal out come in a short time. We show the 4 first pediatric liver transplants performed in our country and we point out some of the most important factors of a pediatric liver transplant program in a consolidation phase.

Biliary Atresia↗
PubMed1982

[Cytodiagnosis of prostatic and testicular neoplasms].

Struck by delays in the diagnosis of carcinomas of the prostate and testis, the authors have developed a method for cytological study by puncture of those organs. During a 7 year period, they saw 100 carcinomas of the prostate, 94% of which had already spread beyond the prostate with bone metastases in 48%. During the same period, 18 carcinomas of the testis were seen, with several erroneous differential diagnoses which led to a delay in diagnosis (mean: 12 weeks). The authors use a Franzen-type aspiration needle which makes possible puncture and aspiration of the tumour zone without hospitalisation of the patient. Cytological diagnosis implies the need for considerable experience, bearing in mind that in particular certain excessively deep punctures of the prostate may yield cells from the seminal vesicles which lead to an incorrect diagnosis of carcinoma of the prostate. Such aspiration cytology may be used to differentiate between benign and malignant tumours, as well as providing a more accurate diagnosis in terms of the type of tumour and the degree of differentiation.

Biopsy, Needle↗