A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy.
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Adolescent↗
Biomedical subjects
O Valle
Publications and source records attributed to O Valle.
Classification of fish-pathogenic vibrios based on comparative 16S rRNA analysis.
No systematic classification of fish-pathogenic vibrios has been accomplished previously despite the use of serological, physiological, and genetical classification systems. In this study, a comparative 16S rRNA analysis of 34 strains (representing seven species) of fish-pathogenic vibrios was performed. The 16S rRNA sequences were obtained by using reverse transcriptase. Nearly complete sequences were obtained for nine strains. On the basis of the results of this analysis, the remaining strains were investigated by analyzing selected stretches containing a total of 560 nucleotides. With the exception of a few strains, including ATCC 43313 (serovar O9), our comparative 16S rRNA analysis confirmed that strains preliminarily identified as Vibrio anguillarum were phylogenetically closely related. Strains of V. anguillarum could be divided into groups, with the main group containing serotype O1 and O2 strains isolated from Atlantic salmon, rainbow trout, turbot, cod, and saithe. The other distinctive group was represented by type strain NCMB 6. This strain was nearly indistinguishable from the type strains of Vibrio ordalii and Vibrio damsela on the basis of the 16S rRNA stretches compared. The results of a comparative 16S rRNA analysis justified the status of Vibrio salmonicida as a distinct species. Originally, this species was characterized biochemically as a very homogeneous species. However, two strains, which were isolated from diseased halibut and from the intestines of healthy cod, could not be distinguished from V. salmonicida strains phylogenetically, although they differed from the original species description in several phenotypic traits. Our results indicate that V. salmonicida and Vibrio fischeri form a cluster that is clearly separated from the cluster that includes V. anguillarum.
Animals↗
[Mallory-Weiss syndrome. Clinical cases and review of the literature].
Once considered rare, Mallory-Weiss syndrome is today more frequently reported due to the introduction of endoscopy which reveals this syndrome in up to 15% of hemorrhages of the upper digestive tract. The etiopathogenesis is not limited to the three factors reported by Mallory and Weiss in 1929: vomit, alcohol and hematemesis. An important role is also played by ASA and the like. This syndrome is also frequently associated with hiatus hernia in which it appears to be a complication since the lesion seems to be caused by the difference between intragastric (above all in the pocket of the hiatus hernia) and intrathoracic transmural pressure. Every increase in the pressure gradient at this level appears to cause fissuration at the cardioesophageal junction. Even endoscopy using rigid instruments and unsufflation may provoke the onset. Anamnesis and an objective examination, common to other pathologies, are not of great value to diagnosis. Radiology also contributes little, unless an arteriography is performed within the context of a highly selective angiography. Endoscopy is the prime method of diagnosis and, in addition to revealing the site and extent of hemorrhage, may be used to achieve hemostasis. Preendoscopic hemostasis currently uses a wide range of methods ranging from sclerotherapy to the injection of drugs or chemical substances, such as ethanol, adrenalin and thrombin; monopolar and bipolar electrocoagulation, thermal probe, hemoclips and Nd:YAG laser are also used. According to the majority of authors, the course of the syndrome is benign unless there are complications such as mediastinitis, pneumonia ab ingestis or hepatic insufficiency. The degree of bleeding is also decisive and the number of blood units transfused is of particular importance in determining the prognosis. The authors report a 10-year survival rate of approximately 70%.
Aged↗
[Lipoma of the small intestine as a rare cause of intestinal occlusion].
Lipoma is a benign tumour of mesenchymal origin which is not frequently localized in the gastroenteric tract; in anatomopathological statistics it is less rare: this is due to the fact that it rarely reaches dimensions which warrant surgical treatment. It is usually either an occasional finding during the course of laparotomy due to other motives or is the cause of complications, as in the present case of intestinal occlusion due to ileocolic invagination, resulting in emergency surgery. As a cause of occlusion tumours of the small bowel are second in terms of incidence to adhesive factors, volvuli and hernias. Invaginations account for 2/3 of small bowel occlusions caused by up to 80% of tumours: the lipoma is the most frequent benign tumour to cause invagination in its submucous polypoid and more or less scissile form. Symptoms are not specific and this causes a delay in diagnosis. Patients are often young subjects with a history of recurrent abdominal colic and sensitivity to anti-spastic drugs so much so that in the past they were diagnosed as "chronic colic" sufferers. Sometimes the only symptom is dyspepsia, or nausea and vomiting, or occasionally abdominal distension with constipation or attacks of diarrhoea. Radiology is not of great value in the diagnosis except for indicating the possible need for emergency surgery. There are no radiological tests, with or without contrast mediums, echography, CAT or MNR which can diagnose this pathology. The decision to operate is usually triggered by the presence of a complication, but perioperative extemporary histological tests are advisable for a correct surgical approach: if the form is scissile, segmentary resection of the small bowel is necessary.(ABSTRACT TRUNCATED AT 250 WORDS)
Humans↗
[Symmetry, ptosis and a new infra-mammary border in the reconstruction of the breast with a tissue expander].
The aim of this procedure is to obtain a permanent prosthesis (after mastectomy and the insertion of a tissue expander) that is similar to the contralateral breast in volume, morphology and inframammary border. The technique involves aspiration of the tissue expander fluid until the desired volume is obtained and the measurement of the fluid which indicates the volume of the prosthesis to be inserted. Given the satisfactory results obtained, the intention is to continue adopting this procedure.
Adult↗
Prevalence of simple and capsular glaucoma in the Central Hospital District of Kotka.
The observed total prevalences of simple and capsular glaucoma, based on hospital records in a district with a population of about 190,000 are presented. All open-angle glaucoma patients receiving glaucoma medication are included. The total combined prevalence of simple and capsular glaucoma in the population was 0.60. The prevalences of both simple and capsular glaucoma were almost the same, 0.32 and 0.28, respectively. 47% of the open-angle glaucoma patients had exfoliation syndrome. The prevalences are age-dependent with a maximum of 4.5% combined (2.1% simple, 2.4% capsular) in the age group of 75 to 84 years. The mean annual increase in the prevalence of open-angle glaucoma was nearly linear in the age groups 65 to 84 years (0.19%), being higher in the exfoliation syndrome group (0.11%) than in the simple glaucoma group (0.08%). The results are compared to some previous population surveys.
Adolescent↗
The IOP-lowering effect of timolol in simple and capsular glaucoma. A multicenter study in Finland.
Timolol maleate eye drops (0.25% and 0.5%) were used alone or in combined treatment in 220 patients with simple or capsular glaucoma. A highly significant (P less than 0.001, mean -9.4 mm Hg,-29%) decrease in the intraocular pressure (IOP) was seen in 196 (164 simple, 32 capsular) patients in the beginning of the study using timolol alone. (Inadequate control timing, deviation from the treatment definition, or adverse reactions caused the exclusion of the data of 24 patients). A total of 180 patients (151 simple, 29 capsular) completed the 6-month study. At the end of the study an IOP less than 22 mm Hg was seen in 103 (57.2%, 91 simple, 12 capsular) patients treated with timolol alone. During the follow-up period there was no significant difference in the IOP-lowering effect of timolol in the simple and the capsular group using timolol alone. Combined treatment was needed by 39 of 180 patients who completed the study. It was needed more than twice as often in the capsular group (12 patients, 41.4%) as in the simple group (27 patients, 17.9%). The IOP increased above 25 mm Hg in one-fourth of these 39 patients during the follow-up period, but there was no significant difference between the simple and the capsular group. Six patients dropped out of the study because of side-effects possibly related to timolol therapy.
Acetazolamide↗
Timolol treatment of chronic open-angle glaucoma and ocular hypertension. A 2.5-year multicenter study.
Maintenance effect of topical timolol was investigated for 2 years in a group of 125 glaucomatous and ocular hypertensive patients (231 eyes) who had been successfully treated with timolol alone during a 6-month period preceding this trial. Intraocular pressure (IOP) was controlled with timolol alone in 135 of 183 eyes (74%) that completed the study. At the end of the trial 142 eyes (78%) showed an IOP of less than 22 mmHg. Other glaucoma medication had to be added to timolol treatment in 18% of ocular hypertensive and 35% of glaucomatous eyes because of IOP elevation. Elevation of IOP seemed to be due to worsening of glaucoma rather than to decreased efficacy of timolol. None of the ocular hypertensive patients developed visual field defects but in ten glaucomatous patients progression of existing visual field defects was observed in association with elevated IOP. Transient adverse effects were observed in 13% of cases, but timolol treatment had to be stopped in only five cases (4%) because of side effects.
Adult↗
Fluorometric determination of DNA and RNA in Chlamydomonas using ethidium bromide.
By using the fluorescence enhancement of ethidium bromide bound to nuclei acid, a very rapid, simple and sensitive assay of DNA in the green alga Chlamydomonas has been devised. Total fluorescence (DNA + RNA) was determined by complex formation with ethidium bromide in a cell lysate made by mixing cell samples with lauroyl sarcosinate, EDTA and NaOH and incubating the mixture for 5 min at room temperature followed by neutralization. For determination of DNA the RNA was digested by incubating the cell sample in te alkaline lysis solution for 45 min at 60 degrees C followed by neutralization, and complex formation with ethidium bromide. Quenching of the fluorescence due to cellular pigments was corrected for using an internal DNA standard.
Chlamydomonas↗
Dominant progressive cone-rod dystrophy.
The report describes a Finnish family in which retinal lesions associated with a considerable visual loss have been found in 19 probands in 5 consecutive generations. The progressive cone-rod dystrophy diagnosed in the probands shows an autosomal dominant mode of inheritance. The onset of the disease was noticed in most of the probands early during the first decade of life. In the young diseased probands the fundal lesions showed the pattern found in pure cone dystrophies. Elder probands, however, had lesions and dysfunctions indicating an obvious rod involvement in addition to the cone dystrophic pattern. The fundal lesions included very extensive pigmentation in most of the elder probands with the disease. In addition to the retinal lesions, considerable astigmatism and lens opacities at the level of the posterior capsule were found in a great proportion of the probands.
Adolescent↗
[Timolol maleate in the treatment of chronic open-angle glaucoma].
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Adult↗
[Chamber angle examination in the diagnosis and treatment of glaucoma].
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Anterior Chamber↗
The cyclopentolate provocative test in suspected or untreated open-angle glaucoma. I. Effect on intraocular pressure.
The mydriasis provocative test with 1% cyclopentolate (CPT) was performed on 218 patients with suspected or untreated open-angle glaucoma, on 431 eyes in all. Gonioscopy was performed before and during the test to ensure that te chamber angles were open throughout. The effect of cyclopentolate on intraocular pressure (10P) in these eyes is reported in the present paper. The mean change in IOP (+/-SD) During CPT was +2.5 +/- 3.1 mmHg in the glaucoma group (196 eyes), +0.4 +/- 2.5 mmHg in the group with suspicion of open-angle glaucoma (235 eyes), and +1.4 +/- 2.9 mmHg in the total series. The difference in IOP change between the groups with glaucoma and suspected glaucoma is statistically highly significant. The incidence of positive responses (IOP rise larger than or equal to 8 mmHg) in the glaucoma group (8.7%: 17 eyes) was significantly higher than in the suspicion group (1.7%: 4 eyes). Significant IOP elevations in the total series were demonstrated in 21 eyes of 18 patients (4.9%). Including the borderline cases, IOP elevations larger than or equal to 5 mmHg were also significantly more frequent in eyes with glaucoma (24.0%: 47 eyes) than in eyes with suspected glaucoma (11.9%: 28 eyes). The occurrence and magnitude of positive responses were not dependent on the initial IOP level. Further analysis of the responder group and clinical studies of the mechanism of IOP elevation on the same patients are presented in parts II and III.
Adult↗
The cyclopentolate provocative test in suspected or untreated open-angle glaucoma. II. Clinical studies on the mechanism of intraocular pressure elevations.
The mydriasis provocative test with 1% cyclopentolate (CPT) was performed on 218 patients with suspected or untreated open-angle glaucoma, on 431 eyes in all. Significant IOP elevations (larger than or equal to 8 mmHg) were demonstrated in 21 eyes of 18 patients. The present paper analyses the responder group and presents some other investigation results and clinical findings to throw additional light on the mechanism of IOP elevation in responders. The responders did not differ from the other patients of the material in age or sex. Patients with capsular glaucoma constituted the biggest group among the responders. 48% of the significant IOP elevations during CPT were encountered in eyes with pseudoexfoliation (PE) and open-angle glaucoma. A positive response during CPT was statistically significantly more common in PE eyes than in eyes without PE. Capsular glaucoma was diagnosed immediately or later in all PE eyes which displayed a larger than or equal to 5 mmHg IOP elevation during the CPT. In addition to the importance of pigment in PE eyes, PE material may play a certain role in the elevation of IOP . The mechanism of this role is not known. No correlation was established between the results of the water drinking test and the CPT. The mechanism that causes the elevation of IOP must be quite different in these two tests. Nor was a statistically significant difference observed in the incidence of cataract, the maximal variation of IOP in the 48-h tension curve, the occurrence of cupping of the optic disc or visual field defects between the responder and non-responder eyes in the glaucomatous group.
Adult↗
The cyclopentolate provocative test in suspected or untreated open-angle glaucoma. III. The significane of pigment for the result of the cyclopentolate provocative test in suspected or untreated open-angle glaucoma.
Significant elevations of IOP, i. e. responses, occurred in eyes with suspected or untreated open-angle glaucoma during the mydriasis test with 1% cyclopentolate (CPT). The possible role of pigment in the IOP elevations seen in the responders was studied. Pigment was liberated in the aqueous, sometimes very profusely, in 88 (31.9%) of 276 eyes during CPT. The maximal IOP elevations, ad 20 mmHg, were seen in just these eyes. They were eyes with capsular or pigmentary glaucoma or eyes in which exceptionally heavy pigment was demonstrated in the chamber angle for other reasons. There was a statistically significant correlation between pigment liberation and IOP elevation during CPT. Evidently profuse pigment liberation may have caused transient blocking of the trabecular meshwork, obstruction of aqueous outflow and elevation of IOP. Liberation of pigment in the aqueous during CPT was statistically highly significantly more profuse in eyes with pseudoexfoliation than in eyes without pseudoexfoliation. An equally significant correlation with demonstrated between the grade of chamber angle pigmentation and the degree of pigment liberation during CPT. The significance of pigment for IOP elevation was seen also in the statistically highly significantly more profuse pigmentation of the chamber angle in the responder than in the non-responder eyes.
Aqueous Humor↗
The cyclopentolate provocative test in suspected or untreated open-angle glaucoma. IV. Fluorescein angiography of the vessels of the iris in open-angle glaucoma eyes with a positive cyclopentolate response.
Fluorescein angiography of the iris (IFAG) was performed on 15 patients with a positive cyclopentolate response (IOP elevation greater than or equal to 8 mmHg) in 17 eyes to the cyclopentolate provocative test. The chamber angles were open in all the eyes. Seven of the responder eyes had capsular glaucoma undergoing treatment, six had simple glaucoma, two had pigmentary glaucoma and two suspicion of open-angle glaucoma. The object was to study with IFAG whether vascular changes can be established in the iris of the responder eyes such as could have a role in the elevation of IOP. All the eyes with capsular glaucoma displayed vascular changes, vasoproliferation and fluorescein leakage from the iris vessles. No other vascular changes were seen in the irises of the responder eyes. IFAG revealed no differences in the iris vasculature between responder and non-responder eyes. A vascular aetiology for the IOP elevation in responders is improbable.
Cyclopentolate↗
The cyclopentolate provocative test in suspected or untreated open-angle glaucoma. V. Statistical analysis of 431 eyes.
The mydriasis provocative test with 1% cyclopentolate (CPT) was performed on 431 eyes with suspected or untreated open-angle glaucoma. Tonography was performed both before and during CPT to study the changes in aqueous dynamics during the test. Statistical analysis of the results yielded the following mean trends and correlations at a highly significant level (P less than 0.001) in the alterations: Intraocular pressure (IOP) rose (deltaP +/- SD) (+ 1.4 +/- 2.9 mmHg) and aqueous outflow facility decreased (deltaC) (-10%) during CPT. The distribution of deltaP and deltaC did not follow the normal Gaussian distribution. The change in deltaP deviated from the Gaussian distribution in 5-10% of the eyes. The deviating values concur with those of the responder eyes in which IOP rose greater than or equal to 8 mmHg during CPT. deltaP was linearly dependent on the initial IOP level Po and the absolute change was always almost constant, approximately +1.4 mmHg. Both the total series and the responder eyes displayed the same trend for the change in aqueous outflow facility in relation to the initial C value (Co): low Co values changed less on average and high Co values changed more and diminished. It is not known why the deltaC change was different depending on the Co value. The change in IOP correlated statistically highly significantly in the initial C value (Co). The loqwe the Co value, the higher was the mean IOP elevation during CPT. In contrast, the change in aqueous outflow (deltaC) did not corrrelate (N.S.) with the initial IOP level (Po) before CPT.
Aqueous Humor↗