RESUMEN
PURPOSE: To characterize the clinical phenotype, with emphasis on electrophysiology, of members of a Swedish family with autosomal dominant retinitis pigmentosa due to a novel mutation, F211L, in the peripherin/RDS gene. METHODS: Nine patients with autosomal dominant retinitis pigmentosa and two healthy family members underwent a full clinical evaluation including kinetic visual field testing, measurement of dark adaptation threshold, and full-field electroretinography. Blood samples were collected and DNA analysis was performed using denaturing gradient gel electrophoresis (DGGE). RESULTS: The grandfather, six of seven siblings from the middle generation, and two young boys carried the mutation F211L in the peripherin/RDS gene. The mutation segregated with the clinical presentation of disease. Fundus examination revealed mainly macular atrophy. All assessed parameters of retinal function (visual acuity, dark adaptation threshold, visual fields, and full-field electroretinograms) demonstrated a successive reduction with increasing age. Full-field electroretinograms showed a diminished rod response in all affected individuals and a reduction of the cone b-wave amplitudes with increasing age, indicating retinitis pigmentosa. In the affected family members, the disease seems to progress at a similar rate with increasing age. CONCLUSIONS: The peripherin/RDS gene mutation F211L is associated with a clinical phenotype and includes early loss of rod function and successive reduction of cone function with increasing age, but impressively well-preserved visual acuity and visual fields in young and middle-aged patients and moderately reduced vision in the old patient. Compared to previously described phenotypes segregating with mutations in the peripherin/RDS gene, the present family demonstrates a more benign clinical phenotype, which is concordant within the family.
Asunto(s)
Genes Dominantes , Variación Genética/genética , Proteínas de Filamentos Intermediarios/genética , Glicoproteínas de Membrana , Proteínas del Tejido Nervioso/genética , Retinitis Pigmentosa/genética , Adolescente , Adulto , Anciano , Secuencia de Aminoácidos , Niño , Adaptación a la Oscuridad/fisiología , Electrorretinografía , Fondo de Ojo , Humanos , Datos de Secuencia Molecular , Mutación/genética , Linaje , Periferinas , Fenotipo , Refracción Ocular/fisiología , Retinitis Pigmentosa/patología , Retinitis Pigmentosa/fisiopatología , Umbral Sensorial/fisiología , Agudeza Visual/fisiología , Campos Visuales/fisiologíaRESUMEN
Restriction fragment length polymorphisms of the 16S rRNA genes of Erysipelothrix strains were studied by cleavage of the chromosomal DNA with restriction endonuclease EcoRI, followed by hybridization to a 420-bp internal fragment of the 16S rRNA gene. Thirty-two Erysipelothrix type and reference strains were classified, together with seven field strains. Reference strains of all serotypes and the type strains of Erysipelothrix rhusiopathiae and Erysipelothrix tonsillarum were included. Nine ribopatterns were observed. Pattern A was represented by 16 strains and included strains of serotypes 1b, 2 to 8, 11 to 13, 15 to 17, 19, and 23. Pattern B was represented by two strains (serotypes 1a and 9). Pattern C was represented by five strains (serotypes 5, 6, and 21). Pattern D was represented by one strain of serotype 4. Pattern E was represented by 11 strains of serotypes 2, 7, 10, 20, 22, 24, and 25. Patterns F, G, H, and I were each represented by a single strain of serotypes 26, 2, 18, and 3, respectively. All the different ribopatterns had some bands in common. Patterns B, C, and D were most similar to pattern A, while patterns F, G, H, and I resembled pattern E. Partial sequencing of the 16S rRNA gene of nine selected strains resulted in three different sequences, i.e., the typical E. rhusiopathiae sequence, the E. tonsillarum sequence, and a third sequence found for two strains. Strains of the same serotype were found to have different ribopatterns as well as different partial 16S rDNA sequences.
Asunto(s)
Erysipelothrix/clasificación , Polimorfismo de Longitud del Fragmento de Restricción , Animales , Secuencia de Bases , ADN Bacteriano/genética , Erysipelothrix/genética , Datos de Secuencia Molecular , ARN Bacteriano/genética , ARN Ribosómico 16S/genética , Homología de Secuencia de Ácido Nucleico , SerotipificaciónRESUMEN
We studied children born in 1986-1989 with severe retinopathy of prematurity (ROP) defined as stage 3 "plus" or more. Sixteen children from the southern and central areas of Sweden were identified and 15 of these were referred to Orebro Medical Center Hospital for surgical treatment of ROP. The incidence of severe ROP was estimated as 0.8 per 10,000 newborns per year. All children were born before 29 weeks' gestation and weighed less than 1310 g; they also needed ventilatory support for a long time. The overall neonatal morbidity was high. A model for eye examination in premature newborns is suggested.
Asunto(s)
Retinopatía de la Prematuridad/epidemiología , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Retinopatía de la Prematuridad/terapia , Suecia/epidemiologíaRESUMEN
Among all children registered at the two educational resource centres in Sweden for visually impaired, we found 61 children with ROP causing their visual dysfunction, born 1975-89. Six children had a birthweight exceeding 1460 g, four of these were educationally blind. Sixty children had a gestational age of 30 weeks or less, one child had a gestational age of 31 weeks. Forty-one children had a visual acuity < or = 0.05 while 20 had visual acuity of 0.06-0.3 in the best eye. Twenty-four children had additional handicaps. Seven blind children had developed autistic features. Vitreoretinal surgery had been performed in 27 children. When the retina preoperatively was totally detached surgery failed to restore useful vision. We conclude that it is safer to define the risk group for ROP by gestational age than by birthweight. If the retina already is totally detached it seems advisable to refrain from vitreoretinal surgery.
Asunto(s)
Retinopatía de la Prematuridad/complicaciones , Trastornos de la Visión/etiología , Adolescente , Niño , Preescolar , Femenino , Edad Gestacional , Humanos , Incidencia , Lactante , Recién Nacido de Bajo Peso , Recién Nacido , Recien Nacido Prematuro , Masculino , Sistema de Registros , Desprendimiento de Retina/cirugía , Retinopatía de la Prematuridad/epidemiología , Retinopatía de la Prematuridad/cirugía , Estudios Retrospectivos , Factores de Riesgo , Suecia/epidemiología , Trastornos de la Visión/epidemiología , Trastornos de la Visión/cirugía , Agudeza VisualRESUMEN
Between 1987-89 fifteen premature infants with severe retinopathy of prematurity (ROP), at the age of ten months or less, were admitted as outpatients to the Department of Ophthalmology at the Orebro Medical Center Hospital. Initial examination of the infants showed that 6 eyes had stage 3+, 3 eyes had stage 4B and 21 eyes had stage 5 ROP. All 15 infants were born at gestational week 24-28 (mean value 26) and had a birth weight between 600 and 1310 g (mean 907 g). For stage 3+ cryotherapy was performed. For stage 4B and 5 buckling procedure and vitreous surgery was performed in an attempt to re-attach the retina. The children were followed 2-5.5 years. Postoperatively, the retinas of all eyes in stage 3+ and 4B were attached. Four retinas out of seventeen stage 5 eyes were later found to be centrally re-attached. One eye with stage 3+ and four eyes with stage 5 were not treated at all. At follow-up of stage 3+ and 4B, visual acuity was measurable in all eyes; in stage 5 only two out of four eyes with anatomically reattached retinas had perception of light.
Asunto(s)
Retinopatía de la Prematuridad/cirugía , Preescolar , Criocirugía , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido de Bajo Peso , Recién Nacido , Recien Nacido Prematuro , Estudios Longitudinales , Masculino , Pronóstico , Desprendimiento de Retina/cirugía , Retinopatía de la Prematuridad/fisiopatología , Curvatura de la Esclerótica , Agudeza Visual , VitrectomíaRESUMEN
Retail pork (38 samples), cod (10 samples) and herring (10 samples) were obtained from 12 stores in the area of Lund in southern Sweden during September and October 1990. Erysipelothrix rhusiopathiae was isolated from 50% of the pork samples, 60% of the cod samples and from 30% of the samples from herring. Serotype 2 dominated on retail pork as well as on fish samples constituting 53% of the pork isolates (10 strains) and 33% of the cod isolates (2 strains). All E. rhusiopathiae isolates originating from herring were serotype 2 (3 strains). Serotypes 1b, 6, and 8 were isolated from retail pork only (6, 2 and 1 strains, respectively). Serotype 5 was isolated from cod only (3 strains) and so was serotype 9 (1 strain). The public health hazards with the occurrence of virulent strains of Erysipelothrix rhusiopathiae in retail pork and fish are discussed.
Asunto(s)
Erysipelothrix/aislamiento & purificación , Peces/microbiología , Microbiología de Alimentos , Carne/microbiología , Animales , Erysipelothrix/clasificación , Serotipificación , Suecia , PorcinosRESUMEN
One hundred and fifty-nine Gram-negative strains isolated from refrigerated fish, taken from the Baltic Sea or Swedish inland waters, together with 32 reference strains of Shewanella, Pseudomonas, Aeromonas and Alcaligenes, were phenotypically classified using 124 unit characters. Data were processed by the Simple Matching (SSM) and Jaccard (SJ) coefficients, and unweighted pair group algorithm with arithmetic averages. Fourteen clusters were defined at the 75% SJ similarity level which correspond to the SSM level of 86%. SJ-based clusters containing field strains were designated Pseudomonas fragi (cluster 1; 31% of the field strains), Ps. lundensis (cluster 2; 2% of the field strains), Ps. fluorescens biovar III (cluster 4; 4% of the field strains), Ps. putida biovar A (cluster 5; 3% of the field strains), Ps. fluorescens/putida (clusters 3 and 6; 6% of the field strains), Psychrobacter (clusters 8 and 9; 3% of the field strains), Shewanella putrefaciens (clusters 10, 11, 12 and 13; 44% of the field strains) and Aer. sobria (cluster 14; 6% of the field strains, all isolated from fresh water fish). Each field strain represented the spoilage flora of refrigerated fish at a total aerobic count of about 10(8) cfu/g. Phenotypic characteristics of major clusters are given. The four S. putrefaciens clusters may be separated by key characteristics. Shewanella putrefaciens ATCC 8071T and reference strains from sources other than fish, did not group in any of the clusters. The mol % guanine + cytosine content was on average 47.6 for cluster 10, and 45.3 for cluster 13.
Asunto(s)
Bacterias Aerobias/clasificación , Peces/microbiología , Microbiología de Alimentos , Pseudomonas/clasificación , Animales , Análisis por ConglomeradosRESUMEN
The phenetic taxonomy of 110 fluorescent bacterial strains, isolated from the roots of tomatoes and other plants was numerically studied through 97 features including 69 assimilation tests. Thirty-two reference strains of various Pseudomonas spp. were additionally included. The strains clustered into 16 clusters at the 74% similarity level when using Jaccard similarity coefficients. Almost all field strains belonged to the P. fluorescens/P. putida-complex while none clustered with P. syringae and allied bacteria. The biovar II branch, as well as the newly described biovar VI of P. fluorescens, made up 55% and 20% respectively, of the field strains; two % were allocated to P. fluorescens biovar I and three % to biovar IV. Eleven % of the root associated strains were designated P. putida; six strains were biovar A, three strains biovar B while four strains could not be referred to any known biovar. The continuum within the P. fluorescens/P. putida-complex as well as the taxonomic status of the six biovars of P. fluorescens and the three biovars of P. putida are discussed.
Asunto(s)
Plantas/microbiología , Pseudomonas/clasificación , Recuento de Colonia Microbiana , Corynebacterium/clasificación , Fluorescencia , Pseudomonas fluorescens/clasificaciónRESUMEN
The microbial development on fillets of herring from the Baltic Sea was studied at temperatures from 0-15 C in air or 100% carbon dioxide (96-100% CO2). The shelf-life of the fillets , defined as the time for the 'total aerobic count' to reach 1 X 10(7) c.f.u./g increased with decreased temperature from 1 d at 15 degrees C to 7 d at 0 degrees C (air). The corresponding values in CO2 were 3 d and 33 d, respectively. The initial flora of the herring fillets was dominated by Alteromonas putrefaciens and Pseudomonas spp. and so was the spoilage flora after storage in air (together 62-95% of the flora: all temperatures). Alteromonas putrefaciens predominated slightly at 2 degrees C to 15 degrees C, while Pseudomonas spp. dominated at 0 degrees C. The Pseudomonas flora was mainly split between Ps. fragi , Ps. fluorescens and a heterogenous group of unidentified Pseudomonas spp. The proportions were not influenced by temperature. In 100% CO2 at the time of spoilage the flora consisted of a significant number of Lactobacillus spp. Below 4 C the domination was almost complete while at 10 degrees C and 15 degrees C. Enterobacteriaceae, Vibrionaceae and Alt. putrefaciens was also found. It was concluded that the microbiological shelf-life of herring fillets is improved by refrigeration storage in 100% CO2 but for good results the temperature should not exceed 2 degrees C.
Asunto(s)
Bacterias/aislamiento & purificación , Dióxido de Carbono/farmacología , Productos Pesqueros , Microbiología de Alimentos , Conservación de Alimentos/métodos , Temperatura , Animales , Lactobacillus/aislamiento & purificación , Pseudomonas/aislamiento & purificaciónRESUMEN
Herring fillets from the Baltic Sea were stored in glass vessels in air, nitrogen or carbon dioxide (CO2) at 2 degrees C and the microbial development was studied. The microbiological shelf-life of the herring (the time to reach 10(7) organisms/g) was prolonged by a factor of 3.5 in CO2 as compared to air. The corresponding factor in nitrogen was 1.5. The microflora of fresh and spoiled herring was classified. The initial microflora was dominated by coryneforms, Flavobacterium spp., Moraxella-like organisms and Pseudomonas spp. The spoilage-flora in air (after 9 d) was dominated by Pseudomonas spp. and Moraxella-like organisms, and in nitrogen (14 d) Enterobacteriaceae, Vibrionaceae and Lactobacillus spp. were dominant. Homofermentative Lactobacillus spp. were the only organisms isolated from fillets stored in CO2 (28 d). It was concluded that storing fresh fish in pure CO2 at low refrigeration temperatures is a method with industrial potential. The method (1) improves the microbiological stability and (2) reduces the microbiological health hazards of the fish.