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Biomedical subjects

M Goycoolea

Publications and source records attributed to M Goycoolea.

12 recordsLinked to original sources
PubMed2004

Template bleeding time and PFA-100 have low sensitivity to screen patients with hereditary mucocutaneous hemorrhages: comparative study in 148 patients.

OBJECTIVES AND PATIENTS: We compared the template bleeding time (BT) and closure time (CT) in the PFA-100 as screening tests in 148 consecutive patients with unequivocal mucocutaneous bleeding and positive family history. EXCLUSION CRITERIA: drug intake, concomitant diseases including minor infections, low platelet count, diseases of secondary hemostasis. RESULTS: Type 1 von Willebrand disease (VWD-1) was diagnosed in 26 patients, primary platelet secretion defect (PSD) in 33, VWD-1 + PSD in nine, whereas 80 patients did not comply with the criteria for known hemostatic disorders (UD, unknown diagnosis). BT and CT were prolonged in 35.8% and 29.7% of all the patients, respectively (P = 0.23). Sensitivity increased to 48% if an abnormality of BT and/or CT was considered. Same comparisons for BT and CT in each diagnostic category were, respectively: 42 vs. 61.5% in VWD-1 (P = 0.18), 42 vs. 24% in platelet secretion defects (P = 0.11), 67 vs. 89% in VWD-1 + PSD (P = 0.50), and 27.5 vs. 15% in UD (P = 0.06). CONCLUSION: Both tests were relatively insensitive and not significantly different in detecting incoming patients with mucocutaneous hemorrhages. In patients with VWD-1, the PFA-100 performed slightly better, whereas the opposite occurred in those patients with platelet secretion defects. In the UD group, both tests lost sensitivity, but the BT detected 1.8 times more patients than the PFA-100. Given the large proportion of undiagnosed bleeders and the overall low sensitivity of these tests, clinical decisions still rely on the medical history and etiological diagnosis of the bleeding disorder.

Bleeding Time↗
PubMed1999

Surgical treatment of vertigo by utriculostomy: an experimental study in sheep.

The objective of this study was to develop and test an endolabyrinthic microsurgical procedure for treatment of vertigo, the utriculostomy. This involves the application of local heat for obtaining a fistula in the membranous labyrinth, so as to establish communication between the endolymphatic and perilymphatic spaces at the utricle level. Before the procedure, an experimental model using quail eggs was built for pre-evaluation, and macroscopic and histological studies were performed in the temporal bones of three healthy sheep. Following this, the utriculostomy was performed through the oval window in 12 sheep. A microthermocautery was conceived by the first author and developed at Hospital de Clinicas de Porto Alegre. This equipment allows for control of temperature and duration of exposure to heat. Three months after the surgery, the animals were killed. A histological study of the temporal bones was performed to assess whether communication had been created between the endolymphatic and perilymphatic spaces, or whether a neomembrane had developed in the cauterized region. Histological sections of the vestibule of eight animals (three normal, five surgical) were analysed. All non-surgical cases presented a normal utricle wall. Three surgical cases (60%) presented a neomembrane. The absence of identifiable perforations in the utricle wall and the presence of neomembrane areas in 60% of the operated bones suggest that utriculostomy is a promising procedure for the treatment of Meniere's disease.

Animals↗
PubMed1996

[Activated C protein resistance: laboratory study and prevalence of the defect in the Chilean population].

Activated protein C resistance (APCR) or Factor V Leiden has been recently described as the most prevalent hemostatic abnormality associated with venous thrombosis. In patients with familial thrombophilia, the prevalence of APCR is 19-60% and around 20% in sporadic venous thrombosis. APCR is usually measured by the degree of prolongation of Activated Partial Thromboplastin Time (APTT) on patient's plasma, induced by addition of APC in comparison to normal plasma. At the molecular level the defect is caused by a single-point mutation in the gene for factor V (FV) (G1.691-->A), that predicts the replacement of Arg506 by Glutamine. This mutation makes activated factor V resistant to inactivation by APC. Since the prevalence of the defect is highly variable among different populations, the objective of this work was to study its frequency in our population and in patients with thrombophilia. We defined the normal range for APTT ratio (APTT + APC/APTT - APC) in a group of 73 healthy volunteers in whom the presence of FV Q506 mutation was searched using Mull enzyme digestion of PCR amplified genomic fragment containing the nucleotide 1.691. The lower limit of APTT ratio established in this group was 2.13. APCR was found in 6 out of 159 control subjects (3.8%) and in 14/50 (28%) of patients with thrombosis. In 13 cases as a single defect and in one associated to type I protein C deficiency. All the APCR patients and control subjects were heterozygotes by gene analysis. The results demonstrate that in our population APCR is also the most common defect associated with thrombosis, in accordance with a high prevalence in the population. The ability to screen for this defect will permit the identification of carriers that would benefit of preventive therapy at risk situations.

Base Sequence↗
PubMed1996

[Hemophilia A: analysis of intron 18 and intron 7 of factor VIII gene and their role in a diagnostic strategy for carrier detection in a Chilean population].

Hemophilia A is an X-linked disorder of coagulation caused by a deficiency of factor VIII. A larger number of different mutations in the VIII gene have been identified. Thus, the detection of female carriers, depends upon the analysis of DNA polymorphisms in and near the factor VIII gene. Our aim was to develop a strategy, earlier reported, for carrier testing in families at risk of hemophilia A. In this study, we analyzed the DNA polymorphisms in 26 affected families, with use of the factor VIII intragenic polymorphisms identified by the restriction enzymes BclI and AlwNI, and by differential hybridization with sequence-specific oligonucleotide probes recognizing BclI and AlwNI polymorphism. While the DNA polymorphism detected by BcilI site in intron 18 of the factor VIII gene was informative for 38% families studied, the AlwNI/intron 7 polymorphism provided additional information (4%). The carrier status of the remaining 58% could be determined utilizing the other polymorphisms suggested by strategy. The two polymorphic sites used combined with the other polymorphisms, intragenic and extragenic, can generate levels of informativeness greater than 98%. We concluded that the strategy for carrier testing would be a good alternative in genetic counselling for hemophilia A, but its limitations must be carefully taken into account.

Chile↗
PubMed1993

[Evaluation of the determination of total cholesterol in Chilean clinical laboratories].

The precise and accurate measurement of total cholesterol is necessary to correctly identify hypercholesterolemia. The aim of this study was to assess the measurement of serum cholesterol in clinical laboratories using as acceptability criteria the recommendations of the "National Cholesterol Education Program" (that consider acceptable a deviation < 5% from the real value and ideal a deviation < or = 3%). In each of three assessments, three pools of lyophilized sera with different levels of cholesterol were used method. Twenty nine to 42.3% of laboratories had results within the ideal interval and 49.5 to 60% within the acceptable range of deviation. In the last assessment, only 17% of laboratories had their three values within the ideal range. Only 39.4% of laboratories use 200 mg/dl as the cut off point to diagnose hypercholesterolemia. It is concluded that the standardization of cholesterol measurement and the use of a common cut off point to diagnose hypercholesterolemia must be emphasized.

Chile↗
PubMed1989

Review of round window membrane permeability.

The round window membrane (RWM) is permeable to certain biological substances. Those substances that can pass through the RWM have the potential to cause inner ear damage, leading to functional disturbances. The RWM is permeable to water, and the existence of osmotically active substances in the middle ear cavity can induce an alteration of inner ear fluid osmolality, leading to membrane displacement. However, several limiting factors exist that prevent free passage of substances from the middle ear to the inner ear. These include the morphological barrier of the three-layered RWM, the molecular weight of the substances, and the nature and concentration of substances in the middle ear cavity. The degree and duration of the inflammation in the middle ear cavity, as well as the morphological integrity of the RWM, also play an important role in controlling the passage of noxious substances into the inner ear. Further characterization of the factors involved in RWM permeability, and clarification of the mechanisms of the inner ear damages caused by substances passing into the inner ear through the RWM, are necessary for an understanding of the inner ear dysfunction caused by middle ear inflammation.

Animals↗
PubMed1986

Silent otitis media: clinical applications.

Silent (masked) otitis media refers to usually chronic pathological conditions behind an intact tympanic membrane which may be clinically "undetected" or "undetectable." Correlations are described for pathological changes in temporal bones and clinical considerations for silent otitis media associated with Hemophilus influenzae meningitis in infants, silent otitis media--the continuum, silent otitis media--sequelae, and chronic silent otitis media.

Haemophilus influenzae↗
PubMed1981

The round window membrane following application of staphylococcal exotoxin: an electron microscopic study.

The round window membrane has been considered as a pathway for the passage of toxic substances from the middle ear cavity to the vestibular labyrinth in cases of otitis media. To determine the role of the round window membrane in this passage, chinchillas were given intrabullar inoculations with staphylococcal exotoxin and the round window membranes were examined electron microscopically. We observed cytoplasmic vacuolization, intercellular edema, cellular and nuclear swelling of the surface epithelia and polymorphonuclear leukocyte (PMN) infiltration of the fibrous layer. Light microscopic observation of the labyrinth revealed PMN infiltration of the most basal portion of the scala tympani. These findings demonstrate a chemotactic effect of the toxin for PMNs and support the concept of the round window membrane as an important avenue of entry.

Animals↗
PubMedDate not supplied

Diagnosis of typhoid fever by two serologic methods. Enzyme-linked immunosorbent assay of antilipopolysaccharide of Salmonella typhi antibodies and Widal test.

Serum samples from 85 patients with proven typhoid fever, 11 patients with p-typhoidal fever, 101 patients with febrile non-typhoidal, and 130 healthy subjects were tested for immunoglobulin G (IgG), IgA, and IgM antilipopolysaccharide (LPS) of Salmonella typhi antibodies by enzyme-linked immunosorbent assay (ELISA) and Widal test. The levels of all three classes of immunoglobulin anti-LPS of S. typhi were higher in typhoid patients than in healthy or febrile nontyphoidal groups; we selected various combinations between the three classes of immunoglobulin to obtain the best combination of sensitivity and specificity. The sum of the absorbance values obtained from the ELISA assay for IgG+IgA+IgM (sigma lgs) was the best choice for diagnostic utility for typhoid fever. We selected a positive test at a decision level of sigma lgs > or = 1.2 with a sensitivity of 94% and a specificity of 92% with a frequency of false negative of 5.9%. The frequency of false positives for healthy controls was 7.7% and, for the febrile nontyphoidal group, it was 7.9%. We also compared receiver (or relative) operating characteristic (ROC) curves for the diagnostic usefulness of the ELISA with that of the Widal test, whose merits and limitations, especially in endemic regions, are discussed. The ELISA assay was much more sensitive and specific than any combination of the Widal test, and hence it could be a useful tool for the serologic diagnosis of typhoidal fever with a single blood sample.

Agglutination Tests↗
PubMedDate not supplied

Panel of Menière's disease. Endolymphatic sac enhancement surgery for Menière's disease: an extension of conservative therapy.

It is out hypothesis that the primary goal of endolymphatic sac surgery in cases of intractable Menière's disease or syndrome is for the purpose of enhancing absorption of endolymph. Our experience includes 251 cases over a period of 15 years. In this report we discuss rationale, current methods, and results in a series of 176 cases since 1974.

Ear, Inner↗