RESUMEN
OBJECTIVE: Characterization of a new type of late-onset autosomal dominant lower motor neuron disease. METHODS: Patients from 2 families underwent detailed neurologic, electrophysiologic, muscle biopsy, and laboratory investigations. MRI of lower limbs was performed in selected patients. DNA samples from leukocytes were used for molecular genetic linkage studies. RESULTS: First symptoms were muscle cramps and fasciculations after age 25-30, followed by a slowly progressive proximal and distal weakness without overt atrophy during the first decades of symptoms. Nerve conduction velocities were within normal range and EMG showed widespread neurogenic alterations. Muscle biopsy revealed characteristic neurogenic findings: fiber type grouping and group atrophy. MRI showed diffuse fatty-degenerative changes, marked in medial gastrocnemius. CONCLUSION: Exactly the same clinical phenotype has not previously been described, and linkage studies showed exclusion of known chromosomal loci for hereditary motor neuropathies, suggesting the disease we report may represent a new disorder.
Asunto(s)
Trastornos de los Cromosomas/epidemiología , Trastornos de los Cromosomas/genética , Enfermedad de la Neurona Motora/epidemiología , Enfermedad de la Neurona Motora/genética , Adulto , Edad de Inicio , Trastornos de los Cromosomas/complicaciones , Trastornos de los Cromosomas/diagnóstico , Trastornos de los Cromosomas/patología , Trastornos de los Cromosomas/fisiopatología , Electromiografía , Femenino , Ligamiento Genético , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de la Neurona Motora/complicaciones , Enfermedad de la Neurona Motora/diagnóstico , Enfermedad de la Neurona Motora/patología , Enfermedad de la Neurona Motora/fisiopatología , Músculo Esquelético/patología , Atrofia Muscular/complicaciones , Conducción Nerviosa/fisiología , Linaje , FenotipoRESUMEN
Limb-girdle muscular dystrophy 2J caused by mutations in C-terminal titin has so far been identified in Finnish patients only. This may in part be due to limited availability of diagnostic tests for titin defects. In this report, a French family with an autosomal-dominant late-onset distal myopathy of the tibial muscular dystrophy phenotype segregating in several members of the family was described. One deceased patient in the family proved to be homozygous for the C-terminal truncating titin mutation because of consanguinity. According to available medical records, the patient had a clearly more severe generalised muscle weakness and atrophy phenotype not recognised as a distal myopathy at the time. Autopsy findings in one of the original Finnish limb-girdle muscular dystrophy 2J patients were reported and the early phenotype in a newly identified young patient with homozygous Finnish C-terminal titin mutation (FINmaj) was detailed.
Asunto(s)
Proteínas Musculares/genética , Distrofia Muscular de Cinturas/genética , Distrofia Muscular de Cinturas/fisiopatología , Mutación Puntual , Proteínas Quinasas/genética , Anciano de 80 o más Años , Niño , Conectina , Resultado Fatal , Femenino , Finlandia , Francia , Homocigoto , Humanos , Masculino , Persona de Mediana Edad , Proteínas Musculares/química , Linaje , Fenotipo , Proteínas Quinasas/química , Estructura Terciaria de ProteínaRESUMEN
The aetiology of lichen planus is unknown, but it is often connected with infections. In recent years peptic ulcer disease has also been closely linked with an infectious agent, Helicobacter pylori. A case-control study was conducted in 78 patients with lichen planus to find out a previous history of peptic ulcer disease, using a questionnaire and a medical record review. Patients were also asked about family history in first- and second-degree relatives. Fifty-seven patients with other skin diseases were interviewed as controls. The prevalence of H. pylori infection in patients with lichen planus was compared to that of 39 patients with other skin diseases and to the overall prevalence rates of H. pylori infection in Finland. Our findings are consistent with an approximately three-fold increased risk of peptic ulcer in patients with chronic/repeating lichen planus, when compared to the control patients (p = 0.04) and also to the overall peptic ulcer prevalence rates in Finland. Forty-one percent of the patients with chronic/repeating lichen planus had a first- or second-degree family member with a peptic ulcer, while the corresponding rate in the control group was only 12% (p=0.003). The prevalence of H. pylori infection in patients with chronic/repeating lichen planus and transient lichen planus was not significantly different from that in patients with other skin diseases.
Asunto(s)
Infecciones por Helicobacter/epidemiología , Helicobacter pylori/aislamiento & purificación , Liquen Plano/epidemiología , Úlcera Péptica/epidemiología , Adulto , Distribución por Edad , Anciano , Estudios de Casos y Controles , Comorbilidad , Finlandia/epidemiología , Infecciones por Helicobacter/diagnóstico , Humanos , Liquen Plano/diagnóstico , Masculino , Persona de Mediana Edad , Úlcera Péptica/diagnóstico , Prevalencia , Probabilidad , Valores de Referencia , Medición de Riesgo , Muestreo , Distribución por SexoRESUMEN
We report fingernail onychomycosis caused by Trichophyton equinum in a farmer who breeds racehorses. In addition to the thumbnail, T. equinum had infected one of the racehorses. Oral terbinafine cured the infection in the farmer.
Asunto(s)
Enfermedades de los Caballos/transmisión , Enfermedades Profesionales/microbiología , Onicomicosis/transmisión , Anciano , Crianza de Animales Domésticos , Animales , Antifúngicos/uso terapéutico , Caballos , Humanos , Masculino , Naftalenos/uso terapéutico , Onicomicosis/veterinaria , Terbinafina , Trichophyton/aislamiento & purificación , ZoonosisRESUMEN
Antimicrobial resistance of faecal aerobic Gram-negative bacteria to eight different antimicrobials was determined by a velvet replica-plating method in 1988 and 1933. Faecal samples were taken from 131 geriatric inpatients in the Turku City Hospital with a hospitalization of more than 7 days. From 1987 to 1992 the use of first and second generation cephalosporins and ciprofloxacin increased from 3.32 defined daily doses (DDD) per bed to 24.25 DDD/bed and from 0.63 DDD/Bed to 28.11 DDD/bed, respectively. A statistically significant increase was observed in the frequency of samples resistant (with >= 1% of resistant colonies) to cefuroxime (p = 0.0004) and ceftazidime (p = 0.037) in patients who received antimicrobial therapy and to ampicillin (p = 0.046) in patients who had not received antimicrobial therapy. In addition, despite the decreased use of sulphonamides and trimethoprim (from 17.11 DDD/bed to 5.54 DDD/bed) no significant changes in the frequency of resistant faecal samples were observed. Use of ciprofloxacin has been found to cure resistance plasmids from bacteria in vitro. However, despite the increased use of ciprofloxacin, no decrease in faecal bacteria resistant to any of the other antimicrobials (i.e. trimethoprim) studied was observed.
Asunto(s)
Antibacterianos/uso terapéutico , Infección Hospitalaria/tratamiento farmacológico , Heces/microbiología , Bacterias Aerobias Gramnegativas/efectos de los fármacos , Infecciones por Bacterias Gramnegativas/tratamiento farmacológico , Anciano , Anciano de 80 o más Años , Ampicilina/uso terapéutico , Ceftazidima/uso terapéutico , Cefuroxima/uso terapéutico , Infección Hospitalaria/microbiología , Relación Dosis-Respuesta a Droga , Farmacorresistencia Microbiana , Femenino , Finlandia , Geriatría , Infecciones por Bacterias Gramnegativas/microbiología , Hospitales Especializados , Humanos , Masculino , Persona de Mediana Edad , Trimetoprim/uso terapéuticoRESUMEN
We tested the skin staphylococcal flora of inpatients and hospital staff in the orthopedic unit of Turku University Central Hospital (Turku, Finland) for susceptibility to ciprofloxacin. Ciprofloxacin-resistant coagulase-negative staphylococci were detected on the skin of 14 (61%) of the 23 inpatients and 16 (53%) of the 30 members of the hospital staff. Plasmid profiles were highly similar for most of these resistant isolates, thus suggesting that cross infection was responsible for the spread of ciprofloxacin-resistant strains in the orthopedic unit. Colonization of inpatients with ciprofloxacin-resistant coagulase-negative staphylococci was significantly associated with hospitalization longer than 6 days (P = .006) and the use of antibiotics during the hospital stay (P = .009). Twelve of 30 outpatients with venous leg ulcers were treated with ciprofloxacin, and all of these 12 were colonized with ciprofloxacin-resistant coagulase-negative staphylococci; in contrast, only three (33%) of the nine outpatients who were treated with trimethoprim (P = .004) and three (33%) of the nine outpatients who were treated with placebo (P = .004) were colonized with these strains. The ciprofloxacin-resistant strains from the outpatients had distinctly different plasmid profiles, a finding that suggests that, in the community, ciprofloxacin resistance may have emerged in isolates from each treated individual.
Asunto(s)
Infección Hospitalaria/epidemiología , Infecciones Cutáneas Estafilocócicas/epidemiología , Antiinfecciosos/uso terapéutico , Portador Sano/epidemiología , Portador Sano/microbiología , Ciprofloxacina/uso terapéutico , Coagulasa/metabolismo , Infección Hospitalaria/microbiología , Infección Hospitalaria/prevención & control , Farmacorresistencia Microbiana , Finlandia/epidemiología , Humanos , Pacientes Internos , Pacientes Ambulatorios , Personal de Hospital , Infecciones Cutáneas Estafilocócicas/tratamiento farmacológico , Infecciones Cutáneas Estafilocócicas/microbiología , Staphylococcus/efectos de los fármacos , Staphylococcus/enzimología , Úlcera Varicosa/tratamiento farmacológico , Úlcera Varicosa/microbiologíaAsunto(s)
Ciprofloxacina/uso terapéutico , Infecciones Estafilocócicas/tratamiento farmacológico , Trimetoprim/uso terapéutico , Úlcera Varicosa/tratamiento farmacológico , Úlcera Varicosa/microbiología , Adulto , Anciano , Anciano de 80 o más Años , Método Doble Ciego , Femenino , Humanos , Masculino , Persona de Mediana Edad , Proyectos Piloto , Infecciones Estafilocócicas/epidemiología , Factores de Tiempo , Úlcera Varicosa/epidemiologíaRESUMEN
We have studied the resistance of urinary strains of Escherichia coli in relation to patients' age. A total of 4146 samples of urine was collected during 1984-1990 from patients staying in an acute care university hospital and in a long-term care city hospital in Finland. In the city hospital, the proportion of strains resistant to either ampicillin, trimethoprim, sulphonamides, or to all of these simultaneously (multi-resistant), correlated with increase in age of the patients. In the university hospital, a clear increase was observed in trimethoprim-resistant and multiresistant isolates. Such correlation with age was not observed among catheterised patients in either hospital. Whether this is due to cumulative lifetime use of antimicrobials remains to be studied. We conclude that the incidence of resistant strains of E. coli correlates with patients' age among both chronic and acute care patients who are not catheterised. This is important in the choice of empirical treatment for urinary tract infections of elderly people.
Asunto(s)
Ampicilina/farmacología , Escherichia coli/efectos de los fármacos , Sulfonamidas/farmacología , Trimetoprim/farmacología , Adolescente , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Resistencia a la Ampicilina , Niño , Preescolar , Farmacorresistencia Microbiana , Escherichia coli/clasificación , Escherichia coli/aislamiento & purificación , Finlandia , Hospitales Municipales , Hospitales Universitarios , Humanos , Lactante , Pruebas de Sensibilidad Microbiana , Persona de Mediana Edad , Resistencia al Trimetoprim , Orina/microbiologíaAsunto(s)
Bacterias/aislamiento & purificación , Biopsia con Aguja , Legrado , Citodiagnóstico , Úlcera de la Pierna/microbiología , Anciano , Anciano de 80 o más Años , Femenino , Bacterias Gramnegativas/aislamiento & purificación , Humanos , Masculino , Persona de Mediana Edad , Manejo de Especímenes , Staphylococcus/aislamiento & purificaciónRESUMEN
BACKGROUND: The use of erythromycin in Finland nearly tripled from 1979 to 1989. In 1988, we observed an unusually high frequency of resistance to erythromycin in group A streptococci in one geographic region. Because routine testing does not detect the sensitivity of these organisms to antibiotics, we initiated a national study to evaluate the extent of this resistance. METHODS: We studied 272 isolates of group A streptococci obtained from blood cultures from 1988 through 1990. In 1990 we collected from six regional laboratories 3087 consecutive isolates from throat swabs and 1349 isolates from pus samples. Resistance was indicated by growth on blood agar containing 2 micrograms of erythromycin per milliliter after incubation in 5 percent carbon dioxide. We also evaluated the clinical importance of erythromycin resistance in a retrospective study of consecutive patients with pharyngitis. RESULTS: The frequency of resistance to erythromycin in group A streptococci from blood cultures increased from 4 percent in 1988 to 24 percent in 1990. From January to December 1990, the frequency of resistance in isolates from throat swabs increased from 7 percent to 20 percent, and resistance in isolates from pus increased from 11 percent to 31 percent. In four communities within 50 km of each other, the frequency of erythromycin resistance ranged from 2 to 5 percent to 26 to 44 percent. Several distinct DNA restriction profiles and serotypes were found among resistant isolates from the same area, suggesting a multiclonal origin. The treatment of pharyngitis with erythromycin failed in 9 of 19 patients infected with erythromycin-resistant group A streptococci, as compared with 1 of 26 patients with erythromycin-susceptible isolates (47 percent vs. 4 percent, P = 0.008). CONCLUSIONS: In Finland since 1988 there has been a rapid and substantial increase in resistance to erythromycin in group A streptococci. The extent of this resistance is particularly serious since there are only a few alternative antibiotics available for peroral treatment of group A streptococcal infections.
Asunto(s)
Eritromicina/farmacología , Streptococcus pyogenes/efectos de los fármacos , Sangre/microbiología , Farmacorresistencia Microbiana , Eritromicina/uso terapéutico , Finlandia , Humanos , Faringitis/tratamiento farmacológico , Faringitis/microbiología , Faringe/microbiología , Estudios Retrospectivos , Infecciones Estreptocócicas/tratamiento farmacológico , Streptococcus pyogenes/genética , Streptococcus pyogenes/aislamiento & purificación , Supuración/microbiologíaRESUMEN
The susceptibility of 455 Escherichia coli blood culture isolate to piperacillin was tested with the disk diffusion test. The presence of different beta-lactamase genes in these strains was also studied using DNA hybridization. Of the TEM beta-lactamase producing isolates, 64% (61/95) were interpreted as intermediately susceptible to piperacillin. Because piperacillin is hydrolyzed by TEM-type beta-lactamases, we suggest that the intermediate susceptibility category should be reduced or omitted in testing piperacillin susceptibility of Escherichia coli isolates.
Asunto(s)
Escherichia coli/efectos de los fármacos , Pruebas de Sensibilidad Microbiana , Piperacilina/farmacología , beta-Lactamasas/metabolismo , Farmacorresistencia Microbiana/genética , Hibridación de Ácido Nucleico , beta-Lactamasas/biosíntesis , beta-Lactamasas/genéticaRESUMEN
From 1983 to 1989, 520 Escherichia coli blood culture pathogens were isolated from two hospitals in Turku, Finland. Ampicillin resistance (MIC greater than or equal to 16 micrograms/ml) of these isolates increased from 33% in 1983 to 66% in 1987, but decreased to 38-49% in 1988-1989. Occurrence of TEM-1 beta-lactamase producing isolates increased only slightly from 14% in 1983 to 25% in 1989 among all Escherichia coli strains studied. Strains with ampicillin MIC values of 16 micrograms/ml and 32 micrograms/ml were mostly responsible for the increase in resistance. Among these isolates, TEM-1 or any other of the well known plasmid-mediated beta-lactamases were not found by hybridization or isoelectric focusing.
Asunto(s)
Resistencia a la Ampicilina/genética , Escherichia coli/enzimología , beta-Lactamasas/biosíntesis , Bacteriemia/microbiología , Escherichia coli/genética , Escherichia coli/aislamiento & purificación , Infecciones por Escherichia coli/microbiología , Humanos , Focalización Isoeléctrica , Pruebas de Sensibilidad Microbiana , Hibridación de Ácido Nucleico , Plásmidos/genética , beta-Lactamasas/genéticaRESUMEN
Plasmid-mediated beta-lactamases were characterized by DNA hybridization in 371 aminoglycoside resistant gram-negative bacilli with known aminoglycoside resistance mechanism. Positive hybridization was detected in 50% to a TEM-1 probe, in 2% to a SHV-1 probe, and in 3% to both probes simultaneously. No hybridization was obtained to OXA-1, OXA-2, PSE-1/PSE-4/CARB-3 or PSE-2 beta-lactamase probes. TEM-1 beta-lactamase occurred simultaneously in 82% of strains showing the AAC(3)-V type of aminoglycoside resistance mechanism. Using isoelectric focusing as a control method, we found potentially plasmid-encoded beta-lactamases, other than TEM-1 and SHV-1, at various pIs in 13% of 288 randomly selected strains. The pIs of these strains or strains showing positive hybridizations did not fit to pIs of recently characterized plasmid-mediated enzymes against third-generation cephalosporins (e.g. CTX-1). In addition, the strains did not show resistance to cefotaxime or ceftazidime. According to the in vitro susceptibility data ceftazidime and cefotaxime were active against most of the aminoglycoside resistant strains studied. In contrast, the activity of piperacillin was much lower than that of the cephalosporins tested.
Asunto(s)
Antibacterianos/farmacología , Bacterias Gramnegativas/enzimología , Plásmidos , beta-Lactamasas/análisis , Aminoglicósidos , Cefotaxima/farmacología , Ceftazidima/farmacología , Sondas de ADN , Farmacorresistencia Microbiana , Bacterias Gramnegativas/efectos de los fármacos , Bacterias Gramnegativas/genética , Piperacilina/farmacología , beta-Lactamasas/genética , beta-Lactamasas/metabolismoRESUMEN
A modified isoelectric focusing method for rapid semiquantitative identification of plasmid-mediated beta-lactamases by use of the Pharmacia PhastSystem (Uppsala, Sweden) is described. Sonication of bacterial colonies collected directly from growth plates decreased the time required for the procedure. With sonic extracts of known beta-lactamase-producing strains used as controls, the assay could be completed in less than 2 h.
Asunto(s)
Focalización Isoeléctrica/métodos , beta-Lactamasas/análisis , ADN/análisis , Hibridación de Ácido Nucleico , Plásmidos , beta-Lactamasas/genéticaRESUMEN
The frequency of beta-lactam resistance was determined among 313 strains of Escherichia coli, 119 of Enterobacter/Klebsiella/Proteus spp., and 48 of Pseudomonas spp. isolated from blood cultures (at Turku University Central Hospital and Turku City Hospital) in 1983-1987. During this period the MIC50 of ampicillin for Escherichia coli increased from 8 to 32 micrograms/ml, the MIC90 of piperacillin from 16 to greater than 32 micrograms/ml and the MIC90 of cefuroxime from 4-8 to 16 micrograms/ml. Among 172 ampicillin-resistant isolates beta-lactamase-mediated resistance was characterized by DNA hybridization with TEM-1, SHV-1, OXA-1, OXA-2, PSE-1, PSE-2 and PSE-4 beta-lactamase probes and by isoelectric focusing. Beta-lactamase types found were TEM-1, TEM-2, SHV-1 and OXA-1. Isoelectric focusing did not show any other plasmid-mediated beta-lactamase varieties. Piperacillin-resistant strains showed mostly TEM-1 activity, but also produced OXA-1 and chromosomal beta-lactamase. Interestingly, a decrease in cefuroxime susceptibility in Escherichia coli occurred in a few OXA-1 producing strains as well as in strains that produced only chromosomal beta-lactamase. Two Escherichia coli strains that overproduced chromosomal beta-lactamase had increased ceftazidime MIC values (8-16 micrograms/ml).
Asunto(s)
Antibacterianos/farmacología , Escherichia coli/enzimología , Plásmidos , beta-Lactamasas/genética , Ampicilina/farmacología , Cefuroxima/farmacología , Farmacorresistencia Microbiana , Enterobacteriaceae/efectos de los fármacos , Enterobacteriaceae/enzimología , Enterobacteriaceae/genética , Escherichia coli/efectos de los fármacos , Escherichia coli/genética , Escherichia coli/aislamiento & purificación , Humanos , Piperacilina/farmacología , Pseudomonas/efectos de los fármacos , Pseudomonas/enzimología , Pseudomonas/genética , Sepsis/microbiología , beta-Lactamasas/biosíntesisRESUMEN
Utilizing an improved method for colony hybridization developed by Haas & Fleming, biotin and 32P-labelled TEM-1 probes were compared for sensitivity and specificity in identifying the type of beta-lactamase made by over 100 clinical bacterial isolates. The new procedure was more reliable than a standard one, but still gave more than 20% false positive and false negative reactions.
Asunto(s)
Bacterias/enzimología , Proteínas Bacterianas/análisis , ADN Recombinante , Hibridación de Ácido Nucleico , beta-Lactamasas/análisis , Bacterias/clasificación , Proteínas Bacterianas/genética , Biotina , Farmacorresistencia Microbiana , Focalización Isoeléctrica , Valor Predictivo de las Pruebas , beta-Lactamasas/genéticaRESUMEN
beta-Lactamase identification by colony hybridization with 32P-labeled DNA probes for TEM-1, SHV-1, OXA-1, OXA-2, PSE-1, PSE-2, and PSE-4 was compared with isoelectric focusing in 122 clinical isolates making a variety of enzyme types. All strains producing a probe-type enzyme gave a positive hybridization reaction. Cross-hybridization was observed between TEM-1 and TEM-2 or TLE-1, between SHV-1 and SHV-2, between OXA-1 and OXA-4, between OXA-2 and OXA-3 (weak), between PSE-2 and OXA-6 or OXA-5 (weak), and among PSE-1, PSE-4, and CARB-3. With allowance for such cross-hybridization, only six strains gave false-positive reactions, and the procedure was 99% specific.
Asunto(s)
Bacterias/enzimología , ADN Bacteriano/genética , Plásmidos , beta-Lactamasas/análisis , Bacterias/genética , Reacciones Falso Positivas , Genes Bacterianos , Focalización Isoeléctrica , Hibridación de Ácido Nucleico , Valor Predictivo de las Pruebas , beta-Lactamasas/genéticaRESUMEN
The nucleotide sequence of PSE-2 beta-lactamase, an enzyme that readily hydrolyzes both carbenicillin and oxacillin, has been determined. The deduced sequence of 266 amino acids contained 93 residues identical to those of OXA-2 beta-lactamase and the Ser-Thr-Phe-Lys tetrad also found in the active site of TEM-1 beta-lactamase.
Asunto(s)
Genes Bacterianos , Pseudomonas aeruginosa/genética , beta-Lactamasas/genética , Secuencia de Aminoácidos , Secuencia de Bases , ADN Bacteriano/genética , Datos de Secuencia Molecular , Homología de Secuencia de Ácido NucleicoRESUMEN
The emergence of trimethoprim (TMP) resistance in fecal flora was compared in patients with urinary tract infection treated with TMP or TMP-sulfamethoxazole. No significant differences were found in the occurrence of TMP-resistant fecal aerobic bacteria in the two treatment groups before and after treatment.