RESUMEN

AIMS: The aim of this study was to investigate the incidence, risk factors, and outcome of venous thromboembolism (VTE) following anterior cruciate ligament (ACL) reconstruction in a nationwide cohort. PATIENTS AND METHODS: All ACL reconstructions, primary and revision, that were recorded in the Swedish Knee Ligament Register (SKLR) between 2006 and 2013 were linked with data from the Swedish National Board of Health and Welfare. The incidence of VTE was determined by entries between the day of surgery until 90 days postoperatively based on diagnosis codes and the prescription of anticoagulants. Risk factors, outcome, and the use of thromboprophylaxis were analyzed. Descriptive statistics with multivariate analysis were used to describe the findings. RESULTS: The cohort consisted of 26 014 primary and revision ACL reconstructions. There were 89 deep venous thromboses (DVTs) and 12 pulmonary emboli (PEs) with a total of 95 VTEs (0.4 %). Six patients with a PE had a simultaneous DVT. The only independent risk factor for VTE was age greater than or equal to 40 years (odds ratio 2.31, 95% confidence interval 1.45 to 3.70; p < 0.001). Thromboprophylaxis was prescribed to 9461 patients (36%) and was equally distributed between those with and those without a VTE (37.9% vs 36.4%). All patient-reported outcome measures (PROMs) one and two years postoperatively were significantly lower in those with VTE. CONCLUSION: The incidence of VTE following ACL reconstruction is 0.4%, and the only significant risk factor is age. Patients with VTE had worse postoperative clinical outcome than patients without VTE. We recommend against the routine use of thromboprophylaxis, but it should be considered in older patients.

Asunto(s)

Reconstrucción del Ligamento Cruzado Anterior/efectos adversos , Complicaciones Posoperatorias/etiología , Embolia Pulmonar/etiología , Trombosis de la Vena/etiología , Adolescente , Adulto , Anciano , Reconstrucción del Ligamento Cruzado Anterior/métodos , Niño , Estudios de Cohortes , Femenino , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/epidemiología , Embolia Pulmonar/epidemiología , Factores de Riesgo , Suecia/epidemiología , Transferencia Tendinosa/efectos adversos , Transferencia Tendinosa/métodos , Trombosis de la Vena/epidemiología , Adulto Joven

RESUMEN

BACKGROUND: We wanted to elucidate the value of Borrelia antibodies in serum and cerebrospinal fluid (CSF) for the diagnosis of Lyme neuroborreliosis (LNB). MATERIAL AND METHODS: We analyzed the serological findings, by anti-flagellin assay, in 267 patients with neurological symptoms from the Stockholm area, where Lyme borreliosis is endemic. RESULTS: In the 70 children with LNB, intrathecal Borrelia antibody production was diagnostic and found in 50 (71%). Sixteen (23%) showed an elevated antibody titer in serum only, and 4 (7%) had no serologic findings. Borrelia IgG in serum, with or without concomitant IgM, was a specific (98%), but insensitive (43%) marker of infection. Isolated, false-positive serum IgM titers were common and found in 10 of 67 children (15%) with viral meningitis, as well as in 28 of 111 (25%) with various neurological symptoms and normal CSF. The specificity of an isolated Borrelia IgM titer in serum was 81%, and the positive predictive value for Borrelia infection only 50% in our material. On the other hand, absence of antibodies in blood had a negative predictive value of 94%, which increased to 97% if also CSF findings were included. CONCLUSIONS: Intrathecal antibody production is strongly supportive of an LNB diagnosis. Conversely, isolated, elevated levels of Borrelia IgM in serum occur in up to one-fourth of children with various neurological complaints, and should be interpreted with caution, especially in nonendemic areas.

Asunto(s)

Anticuerpos Antibacterianos/sangre , Anticuerpos Antibacterianos/líquido cefalorraquídeo , Borrelia/inmunología , Neuroborreliosis de Lyme/diagnóstico , Neuroborreliosis de Lyme/inmunología , Niño , Preescolar , Femenino , Humanos , Inmunoglobulina G/sangre , Inmunoglobulina G/líquido cefalorraquídeo , Inmunoglobulina M/sangre , Inmunoglobulina M/líquido cefalorraquídeo , Neuroborreliosis de Lyme/sangre , Neuroborreliosis de Lyme/líquido cefalorraquídeo , Masculino , Estudios Retrospectivos , Suecia

RESUMEN

RATIONALE: This study aimed to expand the utilization of a simplified flow cytometric approach that employing SYBR-14/PI staining into broader flow cytometry applications, including (i) measurement of the DNA content; (ii) performing cell cycle analysis on mammalian cells; and (iii) sorting of live SYBR-14-stained mammalian cells based on DNA content. MATERIAL AND METHODS: Cell lines of human origin were stained with SYBR-14 and propidium iodide (PI) and assessed by a dual-color flow cytometry. Finally, sorting of living SYBR-14-stained human cell lines was performed. RESULTS: Dual staining with SYBR-14 and PI of human cells followed by flow cytometry analysis demonstrates that in addition to quality assessment, this staining could be utilized to determinate the DNA content on mammal cells. In addition, it resolves the diploid, tetraploid, and aneuploid DNA content. Furthermore, the SYBR-14-stained mammal cells were efficiently sorted based on DNA content and live cells were obtained. All these features have not been previously described with the utilization of this staining approach. CONCLUSIONS: Results of this study demonstrate that this flow cytometric approach not only allows assessment of the viability of cells, but also the DNA content of mammal cells. In addition, this approach allows one to sort viable cells stained with SYBR-14. These findings open-up unexpected and unrestricted avenues for sorting of living mammal cells and provide significant advantages over the traditionally cumbersome sorting approaches for living cells, which demand very specialized and expensive UV light sources as well as sophisticated sorting procedures.

Asunto(s)

Ciclo Celular , ADN/análisis , Citometría de Flujo/métodos , Colorantes Fluorescentes , Neoplasias/patología , Línea Celular Tumoral , Separación Celular , Supervivencia Celular , Humanos , Cariotipificación , Compuestos Orgánicos , Ploidias , Coloración y Etiquetado

Asunto(s)

Inversión Cromosómica , Cromosomas Humanos Par 16/genética , Variación Genética , Leucemia Mielomonocítica Aguda/genética , Proteínas de Fusión Oncogénica/genética , Adulto , Rotura Cromosómica , Análisis Mutacional de ADN , Reordenamiento Génico , Humanos , Cariotipificación , Masculino , Pronóstico , ARN Neoplásico/genética

RESUMEN

Metanephric neoplasms are uncommon renal tumors that arise in both children and adults. They may be composed of small epithelial cells or benign stroma, or both, and are termed metanephric adenoma, metanephric stromal tumor, or metanephric adenofibroma, respectively. Thus far, these tumors have been known for their benign behavior. We present the case of a 21-year-old woman who developed a neoplasm composed of a renal epithelial component identical to metanephric adenoma combined with a malignant spindle cell sarcoma. The epithelial component was positive for pankeratin AE1/3, whereas the sarcomatous component was negative for epithelial markers and positive for vimentin, CD34, and CD117. No smooth muscle differentiation was apparent in the sarcoma by immunohistochemistry or ultrastructural analysis. By fluorescent in situ hybridization analysis of the sarcomatous component there was monosomy of the X chromosome, but no apparent variation from the normal diploid pattern for chromosomes 3, 7, 12, and 17. We conclude that the spectrum of metanephric neoplasia should be expanded to include malignant stromal variants, and we propose the term "metanephric adenosarcoma" for the present case.

Asunto(s)

Adenosarcoma/secundario , Neoplasias Renales/patología , Sarcoma/secundario , Adenosarcoma/química , Adenosarcoma/terapia , Adulto , Antígenos de Neoplasias/análisis , Biomarcadores de Tumor/análisis , Terapia Combinada , ADN de Neoplasias/análisis , Resultado Fatal , Femenino , Humanos , Inmunofenotipificación , Hibridación Fluorescente in Situ , Neoplasias Renales/química , Neoplasias Renales/terapia , Sarcoma/química , Sarcoma/genética , Sarcoma/terapia , Cromosoma X

RESUMEN

We report here a case of meningitis caused by Salmonella virchow in a woman without signs or history of immunosuppression. Salmonella meningitis is a rare complication of human salmonellosis. The patient was successfully treated with ciprofloxacin. To our knowledge, this is the first reported case of confirmed meningitis in an adult caused by this serotype.

Asunto(s)

Meningitis Bacterianas/etiología , Infecciones por Salmonella/etiología , Ciprofloxacina/uso terapéutico , Femenino , Humanos , Meningitis Bacterianas/tratamiento farmacológico , Persona de Mediana Edad , Infecciones por Salmonella/tratamiento farmacológico

RESUMEN

Duplications of proximal 15q have been found in individuals with autistic disorder (AD) and varying degrees of mental retardation. Often these abnormalities take the form of a supernumerary inverted duplicated chromosome 15, more properly described as an isodicentric chromosome 15, or idic(15). However, intrachromosomal duplications also have been reported. In a few cases, unaffected mothers, as well as their affected children, carry the same duplications. During the course of the genotyping of trios of affected probands with AD and their parents, at the positional candidate locus D15S122, an intrachromosomal duplication of proximal 15q was detected by microsatellite analysis in a phenotypically normal mother. Microsatellite and methylation analyses of the pedigree in the following report show that, among three children, the two with autism or atypical autism have maternal inheritance of a 15q11-q13 duplication whereas the third child, who is unaffected, did not inherit this duplication. Their mother's 15q11-q13 duplication arose de novo from her father's chromosomes 15. This finding documents, for the first time, the significance of parental origin for duplications of 15q11-q13. In this family, paternal inheritance leads to a normal phenotype, and maternal inheritance leads to autism or atypical autism.

Asunto(s)

Aneuploidia , Trastorno Autístico/genética , Cromosomas Humanos Par 15 , Trastorno Autístico/diagnóstico , Niño , Preescolar , Metilación de ADN , Femenino , Humanos , Hibridación Fluorescente in Situ , Entrevistas como Asunto , Masculino , Repeticiones de Microsatélite , Madres , Linaje

RESUMEN

Neurofibromatosis-1 (NF1) is an autosomal dominant disorder with marked variability of expression. Analysis of the NF1 gene (NF1) has detected a variety of mutations without any clear correlation with phenotype. However, deletions which remove all of NF1 have been reported in a small number of patients who have minor facial abnormalities, mental retardation, learning disabilities, and early or excessive burden of cutaneous or plexiform neurofibromas. The purpose of this study was to determine whether these phenotypic traits are associated with whole gene deletions. Out of 406 of our NF1 patients, 70 patients had manifestations previously associated with gene deletions. Thirty-five of these patients from 26 families were available for study. By fluorescence in situ hybridization (FISH) analysis, 4 were found to have deletions of the entire gene, including 2 sporadic cases, 1 familial case, and 1 case where family history could not be verified. In addition, the mother of the familial case was found to be mosaic for the deletion. Our results suggest that although large NF1 deletions occur with relatively high frequency in patients with certain findings, the presence of a deletion cannot be predicted solely on the basis of clinical phenotype.

Asunto(s)

Eliminación de Gen , Neurofibromatosis 1/genética , Proteínas/genética , Anomalías Múltiples , Adolescente , Adulto , Niño , Preescolar , Humanos , Persona de Mediana Edad , Neurofibromatosis 1/patología , Neurofibromina 1 , Fenotipo

RESUMEN

This review has briefly considered some of the vast amount of information that has been gathered on genomic imprinting and its role in PWS, AS, BWS and Russell-Silver syndrome. The pace of investigation into the phenomenon of imprinting will undoubtedly continue, because our understanding remains far from complete. Newer approaches to identifying imprinted genes based on their expression rather than their location are likely to uncover currently unknown genes. We can also look forward to more insight into the fascinating complexities of the imprinting process.

Asunto(s)

Impresión Genómica/genética , Trastornos del Crecimiento/genética , Síndrome de Angelman/genética , Animales , Síndrome de Beckwith-Wiedemann/genética , Humanos , Ratones , Síndrome de Prader-Willi/genética

RESUMEN

Cytogenetic studies of ovarian sex cord stromal cell tumors, although limited in number, have found trisomy 12 to be a recurring abnormality, especially in fibromas and granulosa cell tumors (GCTs). However, recent fluorescence in situ hybridization (FISH) studies have failed to confirm a high prevalence of trisomy 12 in GCTs. We describe the karyotypic findings in one adult and one juvenile GCT. Only the juvenile GCT had an extra, abnormal chromosome 12, but both the adult and juvenile GCT had monosomy 22. In light of these findings and the data in the literature, we suggest that monosomy 22 may be important in the genesis of these relatively rare tumors.

Asunto(s)

Cromosomas Humanos Par 22 , Tumor de Células de la Granulosa/genética , Monosomía , Neoplasias Ováricas/genética , Adulto , Aberraciones Cromosómicas , Cromosomas Humanos Par 12 , Femenino , Tumor de Células de la Granulosa/patología , Humanos , Cariotipificación , Neoplasias Ováricas/patología

RESUMEN

An outbreak of hepatitis B virus (HBV) infection in a haemodialysis unit is described. Four patients in the unit contracted subclinical HBV infection within three months. DNA sequence analysis of the S gene of HBV isolates from chronic carriers and newly infected patients in the unit aided in tracing possible transmission pathways. Three newly infected patients had received partial or complete HBV vaccination previously. HBV was rapidly cleared from all three although the anti-HBs titre had not reached 10 IU L-1 in any of them at the time of infection.

Asunto(s)

Infección Hospitalaria/epidemiología , Brotes de Enfermedades , Virus de la Hepatitis B/genética , Hepatitis B/epidemiología , Análisis de Secuencia de ADN , Infección Hospitalaria/prevención & control , Infección Hospitalaria/virología , ADN Viral , Unidades de Hemodiálisis en Hospital , Hepatitis B/prevención & control , Hepatitis B/virología , Vacunas contra Hepatitis B , Virus de la Hepatitis B/aislamiento & purificación , Humanos , Suecia/epidemiología , Vacunación

RESUMEN

In order to compare the clinical and microbiological efficacy and safety of meropenem with imipenem/cilastatin, 249 patients with intra-abdominal infections participated in an open randomised comparative multicentre trial. Seventy-five men and 57 women (mean age 51 years) were enrolled in the meropenem group and 67 men and 50 women (mean age 52 years) in the imipenem/cilastatin group. The patients received either meropenem, 500 mg q 8 h, or imipenem/cilastatin, 500 mg/500 mg q 8 h by intravenous infusion for up to 17 days (mean 5 days). Ninety-seven of 99 patients (98%) receiving meropenem were clinically cured while 86 of 90 patients (96%) in the imipenem/cilastatin group were clinically cured. The microbiological response was satisfactory in 89 of 94 evaluable patients (95%) receiving meropenem and in 78 of 81 evaluable patients (96%) receiving imipenem/cilastatin. There was no significant difference in clinical and microbiological efficacy between the two treatment groups. Adverse reactions were noted in 26 patients receiving meropenem and in 36 patients receiving imipenem/cilastatin. The present study shows that meropenem is effective and well tolerated in the treatment of intra-abdominal infections.

Asunto(s)

Abdomen , Infecciones Bacterianas/tratamiento farmacológico , Quimioterapia Combinada/uso terapéutico , Tienamicinas/uso terapéutico , APACHE , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Infecciones Bacterianas/clasificación , Infecciones Bacterianas/microbiología , Cilastatina/administración & dosificación , Cilastatina/efectos adversos , Cilastatina/uso terapéutico , Combinación Cilastatina e Imipenem , Combinación de Medicamentos , Quimioterapia Combinada/administración & dosificación , Quimioterapia Combinada/efectos adversos , Femenino , Humanos , Imipenem/administración & dosificación , Imipenem/efectos adversos , Imipenem/uso terapéutico , Infusiones Intravenosas , Masculino , Meropenem , Persona de Mediana Edad , Tienamicinas/administración & dosificación , Tienamicinas/efectos adversos

RESUMEN

Duplications of chromosome 9q are rare. We describe the cytogenetic and phenotypic findings in 2 patients, one with a large duplication covering most of 9q(q12-q33.2) and one with a smaller duplication (q21.12-q22.1) who had Di George sequence (DGS). The chromosome 9 origin of the extra material in the second case was confirmed by fluorescence in situ hybridization (FISH) analysis with a whole chromosome 9 paint. Microdeletions of chromosome 22 are common in DGS and have been reported in CHARGE association. This is the first report of an association of a chromosome 9 abnormality with DGS in the absence of a chromosome 22 abnormality and the seventh report of a patient with a duplication of a large portion of 9q (q11-q13 to q32-q33).

Asunto(s)

Anomalías Múltiples/genética , Encéfalo/anomalías , Aberraciones Cromosómicas/genética , Cromosomas Humanos Par 9/ultraestructura , Síndrome de DiGeorge/genética , Cara/anomalías , Cardiopatías Congénitas/genética , Discapacidad Intelectual/genética , Familia de Multigenes , Aberraciones Cromosómicas/patología , Trastornos de los Cromosomas , Hipotiroidismo Congénito , Resultado Fatal , Femenino , Humanos , Hipotiroidismo/genética , Hibridación Fluorescente in Situ , Recién Nacido , Cariotipificación , Disco Óptico/anomalías , Hueso Paladar/anomalías

RESUMEN

We have studied three patients, one with extensive polyposis of the colon, who have constitutional interstitial deletions of the long arm of chromosome 5. High-resolution banding studies indicated that the deletion in the patient with polyposis spans the region 5q21-q22, which includes APC, a gene involved in familial adenomatous polyposis and sporadic colon cancer. Molecular analysis with probes for sequences flanking APC confirmed this conclusion. The deletions in the other two patients, who are too young to have developed polyposis, had breakpoints within this region, precluding the use of cytogenetic analysis alone in making definitive predictions about their risks. Molecular studies resolved the uncertainty; in situ and quantitative Southern hybridizations of four probes for polymorphic segments revealed that one of the patients has a deletion of MCC, a gene which is approximately 150 kb proximal to APC, and two flanking markers. He is at increased risk for polyposis, while the other patient is not. The physical descriptions of these patients, in conjunction with cases in the literature, begin to allow delineation of two distinct 5q-syndromes. These studies also provide precise physical mapping data for D5S71, D5S81, D5S84, and MCC on 5q.

Asunto(s)

Anomalías Múltiples/genética , Poliposis Adenomatosa del Colon/genética , Deleción Cromosómica , Cromosomas Humanos Par 5 , Adolescente , Adulto , Secuencia de Bases , Southern Blotting , Sondas de ADN/genética , Femenino , Marcadores Genéticos/genética , Humanos , Lactante , Discapacidad Intelectual/genética , Masculino , Datos de Secuencia Molecular , Síndrome

RESUMEN

OBJECTIVE: To determine the conceptional events resulting in a 46,XX/46,XY true hermaphrodite and to report the first pregnancy in a 46,XX/46,XY true hermaphrodite with an ovotestis. DESIGN: Chromosome studies were performed on patient lymphocytes and fibroblasts. Red cell antigens, human leukocyte antigens, and presence of Y-chromosome deoxyribonucleic acid were analyzed. Findings were compared with parental and sibling blood group data. SETTING: Genetics clinic and laboratories of a university hospital. RESULTS: These studies demonstrated that our patient is a chimera, with dual maternal and paternal contributions. In addition, despite the presence of an ovotestis, she conceived and delivered a child. CONCLUSIONS: The mechanism for chimerism in this case could be fertilization of (1) the secondary oocyte and first polar body; (2) the ovum and first polar body; (3) the ovum and second polar body; or (4) fusion of two embryos.

Asunto(s)

Quimera/genética , Trastornos del Desarrollo Sexual/genética , Adulto , Secuencia de Bases , Mapeo Cromosómico , ADN/genética , Femenino , Genitales Femeninos/anomalías , Humanos , Datos de Secuencia Molecular , Sondas de Oligonucleótidos/genética , Fenotipo , Embarazo

RESUMEN

Cytogenetic and molecular techniques were employed to determine the origin of marker chromosomes in five patients with mosaic 45,X karyotypes. The markers were shown to be derived from the X chromosome in three female patients and from the Y chromosome in one female and one male. One of the female patients, with a very small, X-derived ring chromosome, had additional phenotypic abnormalities not typically associated with Turner syndrome. In this patient, both the ring and the normal X chromosomes replicated early; perhaps the unusual phenotype is the result of both chromosomes remaining transcriptionally active. These studies illustrate the power of resolution and utility of combined cytogenetic and molecular approaches to some clinical cases.

Asunto(s)

Aberraciones Cromosómicas , Trastornos de los Cromosomas , Mosaicismo , Síndrome de Turner/genética , Cromosoma X , Adolescente , Adulto , Southern Blotting , Preescolar , Bandeo Cromosómico , ADN/genética , ADN/aislamiento & purificación , Femenino , Marcadores Genéticos , Humanos , Lactante , Cariotipificación , Linfocitos/patología , Masculino

RESUMEN

As a means of characterizing the distal long arm of chromosome 5, in particular, the region spanning 5q23-->q31, we analyzed somatic cell hybrids prepared from cells with overlapping chromosomal rearrangements. In one hybrid, the derivative chromosome 5 from a patient with acute myeloid leukemia (AML) de novo, whose bone marrow cells had a balanced translocation, t(5;7)(q31;q22), involving chromosome band 5q31, was isolated in a somatic cell hybrid (B294). In addition, we prepared somatic cell hybrids from a lymphoblastoid cell line (CC) derived from a patient who has a constitutional interstitial deletion of chromosome 5 spanning 5q23.1-->q31.1. By a combination of Southern hybridization analysis and fluorescent in situ hybridization, we constructed a map dividing 5q23-->q31 into four regions. We can assign genes to these regions and relate them to anonymous RFLP markers that have been genetically mapped.

Asunto(s)

Cromosomas Humanos Par 5 , Hematopoyesis/genética , Leucemia Mieloide/genética , Enfermedad Aguda , Adulto , Médula Ósea/patología , Línea Celular , Células Cultivadas , Bandeo Cromosómico , Mapeo Cromosómico , Sondas de ADN , Femenino , Humanos , Células Híbridas , Leucemia Mieloide/patología

RESUMEN

Monosomy for chromosome 5 or a portion of the long arm is a common finding in acute nonlymphocytic leukemia (ANLL) and myelodysplastic syndrome (MDS), especially when the disorder is therapy related [1,2]. If only a portion of chromosome 5 is missing, the loss is usually accomplished by interstitial deletion of various bands, most frequently q12-14 to q31-33 [3]. Occasionally monosomy for 5q is the result of a translocation between chromosome 5 and another chromosome, with the loss of the derivative chromosome that contains 5q. A previously described unbalanced translocation involves chromosome 7: [der(5)t(5;7)(q11.2;p11.2)] and appears to be a recurring abnormality in these disorders [4]. We report here one case of therapy related MDS, one case of MDS which may be therapy related, and two cases of MDS with another "variant" 5q - abnormality, namely a derivative chromosome 3 composed of most of the short arm of chromosome 5 and the long arm of chromosome 3: [der(3)t(3;5)(?p11;?p11)].

Asunto(s)

Cromosomas Humanos Par 3 , Cromosomas Humanos Par 5 , Síndromes Mielodisplásicos/genética , Anciano , Bandeo Cromosómico , Humanos , Translocación Genética