RESUMEN
BACKGROUND: The LUX-Dx™ is a novel insertable cardiac monitor (ICM) introduced into the European market since October 2022. PURPOSE: The aim of this investigation was to provide a comprehensive description of the ICM implantation experience in Europe during its initial year of commercial use. METHODS: The system comprises an incision tool and a single-piece insertion tool pre-loaded with the small ICM. The implantation procedure involves incision, creation of a device pocket, insertion of the ICM, verification of sensing, and incision closure. Patients receive a mobile device with a preloaded App, connecting to their ICM and transmitting data to the management system. Data collected at European centers were analyzed at the time of implantation and before patient discharge. RESULTS: A total of 368 implantation procedures were conducted across 23 centers. Syncope (235, 64%) and cryptogenic stroke (34, 9%) were the most frequent indications for ICM. Most procedures (338, 92%) were performed in electrophysiology laboratories. All ICMs were successfully implanted in the left parasternal region, oriented at 45° in 323 (88%) patients. Repositioning was necessary after sensing verification in 9 (2%) patients. No procedural complications were reported, with a median time from skin incision to suture of 4 min (25th-75th percentiles 2-7). At implantation, the mean R-wave amplitude was 0.39 ± 0.30 mV and the P-wave visibility was 91 ± 20%. Sensing parameters remained stable until pre-discharge and were not influenced by patient characteristics or indications. Procedural times were fast, exhibited consistency across patient groups, and improved after an initial experience with the system. Operator Operator feedback on the system was positive. Patients reported very good ease of use of the App and low levels of discomfort after implantation. CONCLUSIONS: LUX-Dx™ implantation appears efficient and straightforward, with favorable post-implantation sensing values and associated with positive feedback from operators and patients.
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BACKGROUND: The evolution of endoscopic skull base approaches has enabled surgeons to manage selected skull base tumors through a transnasal endoscope-assisted approach. On the other side, more extensive lesions may require a combined cranioendoscopic approach. In this paper, we analysed and compared the incidence of frontal lobe sagging after endoscopic multilayer (EM) reconstruction versus pericranial flap (PF) reconstruction. METHODOLOGY: Subjects were selected retrospectively according to specific inclusion and exclusion criteria. The degree of frontal lobe sagging after surgery was calculated based on the most inferior position of the frontal lobe relative to the nasion-sellar line defined on preoperative and postoperative imaging. A positive value signified upward displacement, and a negative value represented frontal lobe sagging. RESULTS: Twenty subjects were enrolled in our study. In the EM technique group the average frontal lobe displacement was -2,34 ± 1,55 mm. The average postoperative frontal lobe sagging was -0,45 ± 8,92 mm in subjects reconstructed with the PF. The skull base defect size correlated with the degree of frontal lobe sagging in subjects reconstructed with the PF, but not in the other group and when merging the two groups. CONCLUSIONS: In conclusion, the EM technique and the PF reconstruction showed a good reliability for the closure of anterior skull base defects. Moreover the PF seemed to prevent frontal lobe sagging but, for larger skull base defects, it could be useful to be combined with other autologous or heterologous materials to avoid the frontal lobe falling.
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Craneotomía , Endoscopía , Procedimientos de Cirugía Plástica , Neoplasias de la Base del Cráneo , Lóbulo Frontal/cirugía , Humanos , Reproducibilidad de los Resultados , Estudios Retrospectivos , Base del Cráneo/diagnóstico por imagen , Base del Cráneo/cirugía , Neoplasias de la Base del Cráneo/cirugíaRESUMEN
BACKGROUND: Myocardial perfusion imaging (MPI) with single photon emission tomography (SPET) is widely used in coronary artery disease evaluation. Recently major dosimetric concerns have arisen. The aim of this study was to evaluate if a pre-test scoring system could predict the results of stress SPET MPI, thus avoiding two radionuclide injections. METHODS: All consecutive patients (n=309) undergoing SPET MPI during the first 6 months of 2014 constituted the study group. The scoring system is based on these characteristics: age >65 years (1 point), diabetes (2 points), typical chest pain (2 points), congestive heart failure (3 points), abnormal ECG (4 points), male gender (4 points), and documented previous CAD (5 points). The patients were divided on the basis of the prediction score into 3 classes of risk for an abnormal stress-first protocol. RESULTS: An abnormal stress SPET MPI was present in 7/31 patients (23%) with a low risk score, in 24/90 (27%) with an intermediate score risk, and in 124/188 (66%) with an high score risk. ROC curve analysis showed good prediction of abnormal stress MPI. CONCLUSIONS: Our results suggest an appropriate use of a pre-test clinical prediction formula of abnormal stress MPI in a routine clinical setting.
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Anticoagulantes/administración & dosificación , Arritmias Cardíacas/tratamiento farmacológico , Astenia/etiología , Anciano , Anticoagulantes/uso terapéutico , Arritmias Cardíacas/diagnóstico por imagen , Conducta de Elección , Manejo de la Enfermedad , Fondaparinux , Heparina/administración & dosificación , Heparina/uso terapéutico , Humanos , Masculino , Polisacáridos/administración & dosificación , Polisacáridos/uso terapéutico , Rivaroxabán/administración & dosificación , Rivaroxabán/uso terapéutico , Resultado del TratamientoRESUMEN
BACKGROUND: Before cryopreservation is routinely used, its effect on the trueness-to-type of the regenerated plant material needs to be evaluated. OBJECTIVE: In this work, we studied the effect of seed cryopreservation on the phenotypic and molecular characteristics of wild Solanum lycopersicum Mill. plants. METHODS: Thirty-five morphological traits of plants regenerated from cryopreserved seeds were compared to those measured on plants regenerated from non-cryopreserved seeds. RESULT: No statistically significant differences were observed between cryopreserved and non-cryopreserved samples, either in the first or in the second generation post-liquid nitrogen exposure. However, at the molecular level, the genetic analyses performed on the second generation plants germinated from control and cryopreserved seeds using 14 nuclear Simple Sequences Repeats (SSR) markers uncovered some changes in microsatellite length between control and cryopreserved samples. These results confirm at the botanical phenotype level the effectiveness of seed cryostorage for conservation and regeneration of true-to-type S. lycopersicum plants. CONCLUSION: Further experiments are required to clarify potential phenotypic effects of the changes observed in the DNA.
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Criopreservación , Semillas/crecimiento & desarrollo , Semillas/genética , Solanum lycopersicum/crecimiento & desarrollo , Solanum lycopersicum/genética , ADN de Plantas/genética , Solanum lycopersicum/anatomía & histología , Repeticiones de Microsatélite , Fenotipo , Semillas/anatomía & histologíaAsunto(s)
Endocarditis/diagnóstico por imagen , Marcapaso Artificial/efectos adversos , Infecciones Relacionadas con Prótesis/diagnóstico por imagen , Adulto , Endocarditis/etiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Marcapaso Artificial/microbiología , Infecciones Relacionadas con Prótesis/etiología , UltrasonografíaAsunto(s)
Fibrilación Atrial/complicaciones , Neoplasias de la Mama/terapia , Trombosis Coronaria/complicaciones , Trombosis Intracraneal/etiología , Trombosis Intracraneal/prevención & control , Anciano , Neoplasias de la Mama/cirugía , Quimioradioterapia , Trombosis Coronaria/diagnóstico por imagen , Femenino , Humanos , Accidente Cerebrovascular/etiología , Accidente Cerebrovascular/prevención & control , UltrasonografíaAsunto(s)
Síndrome de QT Prolongado/complicaciones , Estrés Psicológico/complicaciones , Fibrilación Ventricular/etiología , Estimulación Cardíaca Artificial , Electrocardiografía Ambulatoria , Estudios de Seguimiento , Humanos , Estilo de Vida , Síndrome de QT Prolongado/fisiopatología , Síndrome de QT Prolongado/terapia , Masculino , Persona de Mediana Edad , Estrés Psicológico/sangre , Estrés Psicológico/psicología , Fibrilación Ventricular/psicología , Fibrilación Ventricular/terapiaAsunto(s)
Anticoagulantes/administración & dosificación , Cardiopatías/tratamiento farmacológico , Heparina de Bajo-Peso-Molecular/administración & dosificación , Trombosis/tratamiento farmacológico , Anciano , Cardiopatías/diagnóstico por imagen , Humanos , Masculino , Trombosis/diagnóstico por imagen , Insuficiencia del Tratamiento , UltrasonografíaRESUMEN
Our aim was to evaluate the desmin content in the myocardial tissue of patients with end-stage heart failure of ischaemic origin and to assess its role on cardiac function. We studied 18 explanted hearts from patients transplanted for end-stage heart failure due to ischaemic cardiomyopathy (ICM). Control myocardial tissue was obtained from the cardiac biopsies of six women with breast cancer taken prior to commencing chemotherapy with anthracyclines, four male donors for heart transplantation and two autoptic hearts from patients who died due to non-cardiac events. Myocardial tissue, obtained from the left ventricle (remote zone from infarcted area), was analyzed by light and confocal immunochemistry (desmin) microscopy. The desmin content of myocardial tissue was obtained by real-time PCR. Cardiac function was evaluated by echocardiographic and right heart catheterization data, obtained before heart transplantation. Confocal microscopy evaluation showed a significant decrease in the number of desmin-positive myocytes (P<0.01) in ICM hearts compared to controls. At real-time PCR evaluation, there was a reduction (P<0.01) in desmin content in the ICM patients compared to controls. A negative correlation was found between desmin-free cardiomyocytes and ejection fraction (EF) (r=-0.834; P<0.02) on echocardiogram. A negative relationship (r=-0.688) was also found between desmin-negative myocytes and capillary wedge pressure. In conclusion, the myocardial tissue of patients with end-stage heart failure of ischaemic origin, shows a decreased number in desmin-positive myocytes at immunochemistry evaluation compared to normal individuals. This deficiency in cytoskeletal intermediate filament content is associated with reduced cardiac function.
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Desmina/metabolismo , Insuficiencia Cardíaca/fisiopatología , Miocardio/citología , Miocardio/patología , Miocitos Cardíacos/patología , Cardiomiopatía Dilatada/complicaciones , Cardiomiopatía Dilatada/fisiopatología , Angiografía Coronaria , Ecocardiografía Doppler , Femenino , Insuficiencia Cardíaca/diagnóstico , Insuficiencia Cardíaca/etiología , Trasplante de Corazón , Ventrículos Cardíacos/diagnóstico por imagen , Ventrículos Cardíacos/patología , Humanos , Inmunohistoquímica , Masculino , Microscopía de Polarización , Infarto del Miocardio/complicaciones , Infarto del Miocardio/fisiopatología , Miocardio/metabolismo , Miocitos Cardíacos/metabolismo , Índice de Severidad de la Enfermedad , Coloración y Etiquetado , Volumen Sistólico/fisiología , Resultado del TratamientoRESUMEN
Familial adenomatous polyposis (FAP) is a dominantly inherited colorectal tumor predisposition that results from germ-line mutations in the APC gene (chromosome 5q21). FAP shows substantial phenotypic variability: classical polyposis patients develop more than 100 colorectal adenomas, whereas those with attenuated polyposis (AAPC) have fewer than 100 adenomas. A further group of individuals, so-called "multiple" adenoma patients, have a phenotype like AAPC, with 3-99 polyps throughout the colorectum, but mostly have no demonstrable germ-line APC mutation. Routine mutation detection techniques fail to detect a pathogenic APC germ-line mutation in approximately 30% of patients with classical polyposis and 90% of those with AAPC/multiple adenomas. We have developed a real-time quantitative multiplex PCR assay to detect APC exon 14 deletions. When this technique was applied to a set of 60 classical polyposis and 143 AAPC/multiple adenoma patients with no apparent APC germ-line mutation, deletions were found exclusively in individuals with classical polyposis (7 of 60, 12%). Fine-mapping of the region suggested that the majority (6 of 7) of these deletions encompassed the entire APC locus, confirming that haploinsufficiency can result in a classical polyposis phenotype. Screening for germ-line deletions in APC mutation-negative individuals with classical polyposis seems warranted.
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Proteína de la Poliposis Adenomatosa del Colon/genética , Poliposis Adenomatosa del Colon/genética , Genes APC/fisiología , Adenoma/genética , Neoplasias Colorrectales/genética , Cartilla de ADN , Exones , Eliminación de Gen , Pruebas Genéticas/métodos , Humanos , Reacción en Cadena de la Polimerasa/métodosRESUMEN
Peutz-Jeghers syndrome is a rare autosomal dominantly inherited condition with an incidence of 1/120.000 liveborns, characterized by the presence of hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. This syndrome predisposes to various clinical problems such as intussusception and cancer development in different loci (gastrointestinal tract, breast and ovary). For this reason, PJS patients should undergo a surveillance protocol of the genital and gastrointestinal apparatus. Therefore, the early diagnosis of PJS in at-risk family members is very important in preventing cancer development. Germline mutations within the LKB1 or Serine Threonine Kinase (STK11) gene, located on chromosome 19p13.3, are responsible for most cases of PJS so far studied. The existence of a second locus is suspected on chromosome 19q13.4 in a minority of families. The LKB1 gene, recently cloned, encodes the Serine Threonine Kinase LKB1 and is ubiquitously expressed. The identification of the disease-causing mutation in each family makes it possible to perform a presymptomatic diagnosis; therefore, only the mutation carriers will undergo the clinical surveillance program. In this paper, the case of a PJS patient who has been surgically treated is presented. The DNA screening of the LKB1 gene in this patient has led to the identification of the causing mutation. A critical review of the literature and is also presented as well as the proposal to establish an Italian Registry of PJS.
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Síndrome de Peutz-Jeghers/diagnóstico , Síndrome de Peutz-Jeghers/terapia , Adulto , Femenino , HumanosRESUMEN
PURPOSE: Genotype-phenotype correlations in familial adenomatous polyposis are only partially understood and, in particular, little is known about the biomolecular characteristics of desmoid tumors, which are one of the most serious and frequent manifestations of familial adenomatous polyposis. In the present study, we describe a family with familial adenomatous polyposis, with peculiar clinical characteristics (i.e., frequency and severity of desmoid neoplasms) associated with an unusual mutation of the adenomatosis polyposis coli gene. If confirmed by other investigations, these findings might help to understand the biologic mechanisms by which specific adenomatosis polyposis coli mutations predispose to desmoid tumors. METHODS: The family with familial adenomatous polyposis, living in southern Italy, was studied from 1985 to the end of 1999; at this date, 15 individuals have been affected by histologically verified familial adenomatous polyposis, 11 of whom had desmoid tumors. A total of 19 family members were studied for adenomatosis polyposis coli gene mutations; 13 of them tested positive and 6 negative. The analytical procedure-previously described-consisted of the extraction of peripheral blood cell DNA, amplification of exon 15 by polymerase chain reaction, single-strand conformation polymorphism analysis, and direct sequencing of the DNA fragment containing the mutation. RESULTS: The main clinical features of the family were 1) a high frequency of desmoid tumors and, consequently, a high penetrance of the desmoid trait in all branches of the family and in 11 (73.3 percent) of 15 affected individuals and 2) severity of desmoids in at least 4 family members, 2 of whom died for causes related to the presence of these tumors. The molecular basis of the disease was an uncommon mutation of the adenomatosis polyposis coli gene, consisting of a large deletion of 310 base pairs at codon 1,464, with duplication of the breakpoint (4,394ins15del310), leading to a stop codon at position 1,575. CONCLUSIONS: The present study shows that a truncating mutation in the adenomatosis polyposis coli gene at the beginning of the region frequently associated with desmoids induced a familial adenomatous polyposis phenotype featured by a high penetrance of the desmoid trait, with severe disease in several affected members of both sexes. The study may help to understand the biologic mechanisms of genotype-phenotype correlations in adenomatosis coli.
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Poliposis Adenomatosa del Colon/genética , Fibroma/genética , Genes APC , Mutación Puntual , Poliposis Adenomatosa del Colon/patología , Adolescente , Adulto , Análisis Mutacional de ADN , Femenino , Fibroma/patología , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Linaje , Fenotipo , Reacción en Cadena de la Polimerasa , Polimorfismo Conformacional Retorcido-SimpleRESUMEN
Germline mutations of the Adenomatous polyposis gene (APC) are responsible for Familial Adenomatous Polyposis (FAP), an inherited condition that predisposes to the development of hundreds to thousands benign adenomas in the colo-rectum. If not surgically removed, they inevitably progress into malignant adenocarcinoma. To date more than 450 germline mutations have been described allowing the establishment of genotype/phenotype correlation between the site and type of molecular defects and their morbid consequences. Authors reviewed their experience concerning 22 FAP affected patients and their 26 first degree relatives, in whom the mutational analysis of the APC gene had been carried out. Site and type of mutations were associated with clinical parameters (age of onset, rectal involvement, extracolonic manifestations, presence of colorectal cancer) and treatments. The impact of mutational analyses on the clinical approach could be very interesting in the future, modifying both surveillance programs and therapeutical choices.
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Poliposis Adenomatosa del Colon/diagnóstico , Poliposis Adenomatosa del Colon/cirugía , Poliposis Adenomatosa del Colon/genética , Análisis Mutacional de ADN , Genes APC , HumanosRESUMEN
Turcot's syndrome is a genetic disease characterized by the concurrence of primary brain tumors and colon cancers and/or multiple colorectal adenomas. We report a Turcot family with no parental consanguinity, in which two affected sisters, with no history of tumors in their parents, died of a brain tumor and of a colorectal tumor, respectively, at a very early age. The proband had a severe microsatellite instability (MIN) phenotype in both tumor and normal colon mucosa, and mutations in the TGFbeta-RII and APC genes in the colorectal tumor. We identified two germline mutations within the PMS2 gene: a G deletion (1221delG) in exon 11 and a four-base-pair deletion (2361delCTTC) in exon 14, both of which were inherited from the patient's unaffected parents. These results represent the first evidence that two germline frameshift mutations in PMS2, an MMR gene which is only rarely involved in HNPCC, are not pathogenic per se, but become so when occurring together in a compound heterozygote. The compound heterozygosity for two mutations in the PMS2 gene has implications for the role of protein PMS2 in the mismatch repair mechanism, as well as for the presymptomatic molecular diagnosis of at-risk family members. Furthermore, our data support and enlarge the notion that high DNA instability in normal tissues might trigger the development of cancer in this syndrome.
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Adenoma/genética , Adenosina Trifosfatasas , Neoplasias Encefálicas/genética , Pólipos del Colon/genética , Neoplasias Colorrectales/genética , Enzimas Reparadoras del ADN , Reparación del ADN/genética , Proteínas de Unión al ADN , Genes Recesivos , Heterocigoto , Síndromes Neoplásicos Hereditarios/genética , Neuroblastoma/genética , Oligodendroglioma/genética , Proteínas/genética , Regiones Terminadoras Genéticas/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Codón/genética , Neoplasias del Colon/genética , Análisis Mutacional de ADN , Femenino , Humanos , Repeticiones de Microsatélite , Persona de Mediana Edad , Endonucleasa PMS2 de Reparación del Emparejamiento Incorrecto , Lóbulo Parietal , Linaje , Polimorfismo Conformacional Retorcido-Simple , Proteínas/fisiología , Neoplasias del Recto/genética , Eliminación de Secuencia , Neoplasias del Colon Sigmoide/genética , SíndromeRESUMEN
We describe three unrelated kindreds, affected by familial adenomatous polyposis (FAP), with 5q submicroscopic deletions that encompass the entire adenomatous polyposis coli (APC) gene and the adjacent DP1 gene. In one family the deletion encompasses also the MCC (mutated in colon cancer) gene. Affected members of these families had dysplastic adenomatous polyps and congenital hypertrophy of the retinal pigment epithelium (CHRPE); no individual was affected by mental retardation or facial dysmorphism. The deletions were detected by linkage analysis with several intragenic and closely flanking polymorphic markers and confirmed by a quantitative PCR analysis. This procedure could have an impact on the detection of the molecular defect in FAP patients in whom mutational analysis fails to identify the specific mutation.