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BACKGROUND: Several studies have shown that in patients treated with vitamin K antagonists (VKAs) time spent in therapeutic range (TTR) is lower in females than in males. This retrospective study has evaluated a possible association among over-anticoagulation and gender, type and indications to VKAs, TTR and bleeding. Moreover, the decrease of the INR level, after VKAs withdrawal, was considered. METHODS: From December 2020 to January 2004, 1230 patients with venous thromboembolism or atrial fibrillation were enrolled. Age, gender, type of VKAs, clinical indications, INR values and bleeding events were recorded. TTR was calculated considering the entire period of treatment. RESULTS: A total of 1616 and 1759 over-anticoagulation episodes were found in males and females, respectively. The median INR value was 4.5 (4.0-19.04). Thirty-two percent of the patients did not have an overdose throughout the observation period. The median number of over-anticoagulation per year was significantly higher in females (0.39-year) than in males (0.28-year). After 24 h of VKAs withdrawal, INRs were similar in both genders. Logistic regression analysis showed that the episodes of over-anticoagulation per year were associated with females, atrial fibrillation, warfarin therapy, follow-up length longer than 4 years, and TTR <73%, but were not associated to bleeding episodes. CONCLUSION: The higher number of over-anticoagulation can explain the lower TTR in females. An excess of anticoagulation is not associated with bleeding events. The recovery of INR performs better when acenocoumarol is used, therefore, in patients who present several episodes of over-anticoagulation, acenocumarolo could replace warfarin.
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Fibrilación Atrial , Warfarina , Acenocumarol/efectos adversos , Anticoagulantes , Fibrilación Atrial/complicaciones , Femenino , Fibrinolíticos/uso terapéutico , Hemorragia/inducido químicamente , Hemorragia/epidemiología , Humanos , Relación Normalizada Internacional , Masculino , Estudios Retrospectivos , Factores Sexuales , Vitamina K , Warfarina/efectos adversosRESUMEN
An atmospheric-pressure plasma-enhanced spatial atomic layer deposition (PE-s-ALD) process for SiO2 using bisdiethylaminosilane (BDEAS, SiH2[NEt2]2) and O2 plasma is reported along with an investigation of its underlying growth mechanism. Within the temperature range of 100-250 °C, the process demonstrates self-limiting growth with a growth per cycle (GPC) between 0.12 and 0.14 nm and SiO2 films exhibiting material properties on par with those reported for low-pressure PEALD. Gas-phase infrared spectroscopy on the reactant exhaust gases and optical emission spectroscopy (OES) on the plasma region are used to identify the species that are involved in the ALD process. Based on the identified species, we propose a reaction mechanism where BDEAS molecules adsorb on -OH surface sites through the exchange of one of the amine ligands upon desorption of diethylamine (DEA). The remaining amine ligand is removed through combustion reactions activated by the O2 plasma species leading to the release of H2O, CO2, and CO in addition to products such as N2O, NO2, and CH-containing species. These volatile species can undergo further gas-phase reactions in the plasma as indicated by the observation of OH*, CN*, and NH* excited fragments in OES. Furthermore, the infrared analysis of the precursor exhaust gas indicated the release of CO2 during precursor adsorption. Moreover, this analysis has allowed the quantification of the precursor depletion yielding values between 10 and 50% depending on the processing parameters. Besides providing insights into the chemistry of atmospheric-pressure PE-s-ALD of SiO2, our results demonstrate that infrared spectroscopy performed on exhaust gases is a valuable approach to quantify relevant process parameters, which can ultimately help evaluate and improve process performance.
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Cannabis sativa is the most used controlled substance in Europe. With the advent of new and less restrictive European laws on cannabis sale for recreational use (including in Italy), an increase in indoor cannabis crops were observed. This increase was possible due to the availability of cannabis seeds through the internet market. Genetic identification of cannabis can link seizures and if in possession then might aid in an investigation. A 13-locus multiplex STR method was previously developed and validated by Houston et al. A collaborative exercise was organized by the Italian Forensic Geneticists - International Society of Forensic Genetics (Ge.F.I. - ISFG) Working Group with the aim to test the reproducibility, reliability and robustness of this multiplex cannabis STR kit. Twenty-one laboratories from three European countries participated in the collaborative exercise and were asked to perform STR typing of two cannabis samples. Cannabis DNA samples and the multiplex STR kit were provided by the University of Barcelona and Sam Houston State University. Different platforms for PCR amplification, capillary electrophoresis (CE) and genotyping software were selected at the discretion of the participating laboratories. Although the participating laboratories used different PCR equipment, CE platforms and genotyping software, concordant results were obtained from the majority of the samples. The overall genotyping success ratio was 96%. Only minor artifacts were observed. The mean peak height ratio was estimated to be 76.3% and 78.1% for sample 1 and sample 2, respectively. The lowest amount of -1 / + 1 stutter percentage produced, when the height of the parent allele was higher than 8000 RFU, resulted to be less than 10% of the parent allele height. Few common issues were observed such as a minor peak imbalance in some heterozygous loci, some artifact peaks and few instances of allelic drop-out. The results of this collaborative exercise demonstrated the robustness and applicability of the 13-locus system for cannabis DNA profiling for forensic purposes.
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Cannabis , Cannabis/genética , ADN , Dermatoglifia del ADN , Humanos , Repeticiones de Microsatélite , Reacción en Cadena de la Polimerasa , Reproducibilidad de los ResultadosRESUMEN
AIM: In the literature, no single therapeutic approach is preferred for treating dental pulp responses such as pulp canal obliteration (PCO). Some authors still recommend preventive endodontic treatment, whereas others choose not to intervene, to avoid causing possible iatrogenic complications. This review was conducted to explore, in the current scientific literature, the degree of knowledge concerning the onset and development of PCO and pulp necrosis (PN) following dental trauma (i.e. extrusive luxation and lateral luxation) in children and young adults (6-20 years). The authors also evaluated whether and to what extent the stage of dental root development at the time of traumatic dental injury (TDI) influences these pulp responses, and whether PN can arise in teeth already affected by PCO. MATERIALS AND METHODS The literature search was carried out during the period October 2019 to January 2020, using the following databases: PubMed/MEDLINE, SCOPUS and Web of Science. Articles in English reporting on young patients with PCO or PN in permanent teeth affected by trauma were included. Theresearch, whose questions were summarised according to the PICO method, considered the following aspects: patient age, type of TDI, stage of root development, initial treatment, presence of calcification or necrosis, time to onset of the two outcomes (PCO and PN), and duration of follow-up. The articles found were evaluated by two reviewers; in the event of disagreement regarding the inclusion of an article, a third reviewer was called upon to decide. RESULTS: The initial screening of the databases, using the selected search keywords, yielded a total of 343 articles. After exclusion of duplicates and articles not meeting the inclusion criteria, 11 articles remained. Of these, only four completely met the inclusion criteria. Closer analysis of these four publications revealed that they would not easily yield standardised sets of clinical data that might be homogenised in order to produce clear meta-analytical data. Hence the need to limit the data collected to the following seven items: number and type of injuries, type of initial intervention, duration of follow-up, main pulp responses, number and type of pulp responses. CONCLUSIONS: PCO is a physiological pulp response associated with a traumatic event, usually a luxation injury. It is diagnosed on the basis of combined radiographic and clinical-anamnesticdata. Signs of PCO start to appear at around one year after the traumatic event, and its development reaches completion by about five years post-trauma. PN, on the other hand, is clearly apparent within the first year. Endodontic treatment, be it carried out as a preventive measure or following detection of PCO, is inappropriate and can cause serious iatrogenic damage. Treatment is indicated only in cases of definite PN.
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Avulsión de Diente , Niño , Cavidad Pulpar , Necrosis de la Pulpa Dental/etiología , Dentición Permanente , Humanos , Adulto JovenRESUMEN
OBJECTIVE: Carotid endarterectomy has traditionally been the strategy for the surgical management of carotid stenosis. Alongside the usual techniques, this study presents another technique: endarterectomy with systematized resection-anastomosis. MATERIAL AND METHODS: A retrospective study from January 2006 to December 2018, included all patients managed for carotid stenosis at Meaux hospital with the "endarterectomy with systematized resection-anastomosis" technique. The perioperative death and stroke rate were evaluated according to the judgment criterion "homolateral ischemic stroke and any stroke or perioperative death". Statistical analysis of the data was performed using SPSS software. RESULTS: For 415 carotids operated, we identified 240 managed with this technique. The average age was 71.7±9.6 years, 70% men and 30% women. The main cardiovascular risk factor was hypertension (76.7%), 24.2% of patients had an ischemic heart disease history, 43.7% homolateral ischemic stroke and 29% transient ischemic attack. Bilateral lesions were diagnosed in 6.2% of patients and 7.5% had contralateral occlusion. Carotid stenosis was symptomatic in 52.9% of patients. The average stenosis rate observed was 82.9±8.1% on computed tomography angiogram and 83.7±7.7% on magnetic resonance angiogram. The shunt was used in 45.4% of procedures. The average length of stay was 5.9±2.3 days. All patients had satisfactory results in terms of patency and anatomical appearance on the 1st check. In the post-operative period during the first month, complications occurred in 12.5% of patients (1.6% acute coronary syndrome, 0.8% neurological event, 0.8% death, 0.4% infection, 12.1% hematoma, 1.6% recovery for bleeding). The overall perioperative death and stroke rate was 2.6%. Myocardial infarction and sepsis were the causes of death for the 2 patients in the peri operative period. The mean duration of follow-up was 21.2 months, without any restenosis or occurrence of neurological complications. One patient died beyond the 1st month of follow-up without established cause, and the overall mortality rate was 1.3%. CONCLUSION: Thromboendarterectomy with "systematized" anastomosis resection represents an angioplasty method for carotid stenosis surgical management under visual control.
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Arterias Carótidas/cirugía , Estenosis Carotídea/cirugía , Endarterectomía Carotidea , Anciano , Anciano de 80 o más Años , Anastomosis Quirúrgica , Isquemia Encefálica/etiología , Arterias Carótidas/diagnóstico por imagen , Estenosis Carotídea/complicaciones , Estenosis Carotídea/diagnóstico por imagen , Estenosis Carotídea/mortalidad , Endarterectomía Carotidea/efectos adversos , Endarterectomía Carotidea/mortalidad , Femenino , Humanos , Ataque Isquémico Transitorio/etiología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Factores de Riesgo , Accidente Cerebrovascular/etiología , Factores de Tiempo , Resultado del TratamientoRESUMEN
BACKGROUND: Heparin-induced thrombocytopenia (HIT) is a transient, antibody-mediated thrombocytopenia syndrome that usually follows exposure to unfractioned heparin (UFH) or low-molecular-weight heparin (LMWH). In contrast to other pathological conditions which lead to thrombocytopenia and bleeding complications, HIT results in a paradoxical prothrombotic state. It is caused by antibodies directed to complexes containing UFH or LMWH and a self-platelet protein: the platelet factor 4 (PF4). The heparin-PF4 immune complex leads to activation of platelets, monocytes, and endothelial cells which release procoagulant proteins and tissue factor with subsequent blood coagulation activation. Case Report. We describe the case of a woman undergone to knee replacement and affected by urosepsis who developed a HIT after exposure to enoxaparin. The thrombotic burden was very impressive involving the arterial and venous cerebral vessel and the venous pulmonary, hepatic, and inferior legs vascular beds. The patient was successfully treated with fondaparinux without recurrent thrombosis or bleeding. The clinical scenario could be named "catastrophic HIT" like the catastrophic antiphospholipid syndrome since they have a similar pathogenetic mechanism involving both platelets and monocytes procoagulant activities and a similar clinical manifestation with a life-threatening multiple arterial and/or venous thromboses. CONCLUSION: Patients presenting with HIT could show a very impressive thrombotic burden resembling to that of the catastrophic antiphospholipid syndrome. A careful differential diagnosis should be made towards other pathological conditions which lead to thrombocytopenia to avoid an unnecessary and potentially harmful platelet transfusion. Although fondaparinux is off-label, its use in patients with HIT is simple and seems to be effective.
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OBJECTIVE: The aim of this review is to describe the "hot points" of current clinical governance for oral HPV comprising the use of new diagnostic molecular procedures, namely, Pyrosequencing and Next Generation Sequencing. MATERIALS AND METHODS: The data on oral HPV was collected through two levels of research. First for all, we used the canonical medical search engines, PubMed, and Medline, followed by the study of current commercial tools for HPV diagnosis, particularly within commercial companies involved in the molecular procedures for HPV detecting and genotyping. RESULTS: Different medical procedures are now described and used throughout the world in HPV diagnosis and treatment. However, the laboratory methods are often validated and used for genital infections, and, in these cases, data are missing in the literature as regards the clinical approach for oral lesions. CONCLUSIONS: Dental care units are often the front line for a clinical evaluation of a possible HPV lesion in the oral cavity, which means that correct clinical governance could avoid a viral neoplastic progression of this disease with great advantages for the patient. In this case, the problem is due to the difficulty in lesion recognition but also and more especially the absence of correct laboratory diagnosis and subsequent treatment in the clinical course.
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Enfermedades de la Boca/diagnóstico , Enfermedades de la Boca/terapia , Infecciones por Papillomavirus/diagnóstico , Infecciones por Papillomavirus/terapia , Carcinoma Verrugoso/diagnóstico , Carcinoma Verrugoso/terapia , Carcinoma Verrugoso/virología , Criocirugía , Hiperplasia Epitelial Focal/diagnóstico , Hiperplasia Epitelial Focal/terapia , Hiperplasia Epitelial Focal/virología , Humanos , Terapia por Láser , Leucoplasia Bucal/diagnóstico , Leucoplasia Bucal/terapia , Leucoplasia Bucal/virología , Liquen Plano Oral/diagnóstico , Liquen Plano Oral/terapia , Liquen Plano Oral/virología , Enfermedades de la Boca/virología , Neoplasias de la Boca/diagnóstico , Neoplasias de la Boca/terapia , Neoplasias de la Boca/virología , Papiloma/diagnóstico , Papiloma/terapia , Papiloma/virología , Papillomaviridae/genética , Infecciones por Papillomavirus/virología , Fotoquimioterapia , Carcinoma de Células Escamosas de Cabeza y Cuello/diagnóstico , Carcinoma de Células Escamosas de Cabeza y Cuello/terapia , Carcinoma de Células Escamosas de Cabeza y Cuello/virología , Verrugas/diagnóstico , Verrugas/terapia , Verrugas/virologíaRESUMEN
Avulsion of one or more permanent teeth represents an emergency in dentistry. The main treatment is the replantation of the tooth/teeth as soon as possible to decrease possible complications. However, this is not always possible, and, in many cases, the patient undergoes a delayed replantation and subsequently prosthetic and implant treatments.
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Resorción Radicular , Reimplante Dental , Adolescente , Niño , HumanosRESUMEN
Atomic layer etching (ALE) provides Ångström-level control over material removal and holds potential for addressing the challenges in nanomanufacturing faced by conventional etching techniques. Recent research has led to the development of two main classes of ALE: ion-driven plasma processes yielding anisotropic (or directional) etch profiles and thermally driven processes for isotropic material removal. In this work, we extend the possibilities to obtain isotropic etching by introducing a plasma-based ALE process for ZnO which is radical-driven and utilizes acetylacetone (Hacac) and O2 plasma as reactants. In situ spectroscopic ellipsometry measurements indicate self-limiting half-reactions with etch rates ranging from 0.5 to 1.3 Å/cycle at temperatures between 100 and 250 °C. The ALE process was demonstrated on planar and three-dimensional substrates consisting of a regular array of semiconductor nanowires (NWs) conformally covered using atomic layer deposition of ZnO. Transmission electron microscopy studies conducted on the ZnO-covered NWs before and after ALE proved the isotropic nature and the damage-free characteristics of the process. In situ infrared spectroscopy measurements were used to elucidate the self-limiting nature of the ALE half-reactions and the reaction mechanism. During the Hacac etching reaction that is assumed to produce Zn(acac)2, carbonaceous species adsorbed on the ZnO surface are suggested as the cause of the self-limiting behavior. The subsequent O2 plasma step resets the surface for the next ALE cycle. High etch selectivities (â¼80:1) over SiO2 and HfO2 were demonstrated. Preliminary results indicate that the etching process can be extended to other oxides such as Al2O3.
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AIM: The aim of this study is to produce a clinical therapy protocol for a group of 20 athletes between the ages of 8 and 14, who all suffered traumas affecting hard dental and periodontal tissues. MATERIALS AND METHODS: This study involves a group of 20 athletes (10 male and 10 female) who had suffered dental traumas of varying severity. In order to collect the data, two classification systems were used: one for hard tissue traumas and another for periodontal lesions. The athletes were subdivided into lesion groups, treated depending on the type of lesions and then followed-up over a period of 5 years. A statistical analysis was carried out to study the association between type of lesions, types of sports and the number of teeth involved. RESULTS: We found that recovery time ranged from 3 to 5 days for uncomplicated fractures and up to 14 days for luxations. Only four complications were registered during the follow-up period and these were most likely due to the severity of the trauma. Out of the 20 athletes, 16 had begun and maintained the habit of using mouth protection devices when practicing their sport. The statistical analysis focused on the possible association between the risk levels of a sport and the typical lesions and complications that usually occur. Due to their high frequency, the two types of lesions taken into account in our study were complicated fractures (FP) and luxated/fractured teeth (LF). The average number of teeth involved varied according to the sport's risk level (medium or high) with averages of 1.6 teeth involved for medium-risk sports and 2.0 teeth for high-risk sports. CONCLUSIONS: What emerged in particular was the regular progress in the recovery time needed for the injuries sustained, with few complications or delays in rehabilitation; we also noted that the numerous athletes who habitually used mouthguards while competing during the recovery period did not suffer any recurrences of injuries or further complications. Regarding the results of our statistical analysis, no association was found between the sport's risk, the types of lesions and the occurrence of complications. In addition, analysis of the average number of teeth involved showed that there is no statistical evidence to reject the hypothesis that the ratios remain the same in the two groups.
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Atletas , Protectores Bucales/estadística & datos numéricos , Traumatismos de los Dientes/clasificación , Traumatismos de los Dientes/terapia , Adolescente , Niño , Femenino , Estudios de Seguimiento , Humanos , Italia , Masculino , Factores de RiesgoRESUMEN
A method to avoid the stiction failure in nano-electro-opto-mechanical systems has been demonstrated by coating the system with an anti-stiction layer of Al2O3 grown by atomic layer deposition techniques. The device based on a double-membrane photonic crystal cavity can be reversibly operated from the pull-in back to its release status. This enables to electrically switch the wavelength of a mode over ~50 nm with a potential modulation frequency above 2 MHz. These results pave the way to reliable nano-mechanical sensors and optical switches.
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Allele frequencies of 17 Y-chromosome short tandem repeat (STR) loci, included in the AmpFlSTR® Y-FilerTM amplification kit, were analyzed for the first time in different samplings (N=268) from Sardinia, Italy. Samples were collected from three isolated populations (N=139) and three open populations (N=129). A total of 230 unique haplotypes were detected; the observed haplotype diversity and discrimination capacity were 0.998 and 0.858, respectively. The data presented confirm that Sardinian population is well differentiated from other Italian and Mediterranean populations. Although regarded as a homogeneous population, substantial heterogeneity was detected when Sardinian isolated villages or microareas were analyzed. Our results highlights the importance of building a Sardinia-own database, organized by small areas, as a powerful tool for both forensic applications and population genetics studies.
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Cromosomas Humanos Y , Etnicidad/genética , Genes Ligados a Y , Repeticiones de Microsatélite , Frecuencia de los Genes , Genética de Población , Haplotipos , Humanos , Italia , MasculinoRESUMEN
Marfan syndrome is an autosomal dominant disorder with rheumatoid, ophthalmological, neurological, cutaneous and cardiovascular manifestations. Aneurysmal lesions affecting both the abdominal aorta and the peripheral arteries are not often described in the literature. We report a case associating a bilateral popliteal aneurysm and an aneurysm of the infra-renal abdominal aorta.
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Aneurisma/etiología , Aneurisma de la Aorta Abdominal/etiología , Síndrome de Marfan/complicaciones , Arteria Poplítea/patología , Aneurisma/cirugía , Aneurisma de la Aorta Abdominal/cirugía , Prótesis Vascular/efectos adversos , Implantación de Prótesis Vascular , Fibrinolíticos/uso terapéutico , Humanos , Claudicación Intermitente/tratamiento farmacológico , Claudicación Intermitente/etiología , Masculino , Persona de Mediana Edad , Arteria Poplítea/cirugía , Complicaciones Posoperatorias/tratamiento farmacológico , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/cirugía , Recurrencia , Reoperación , Trombosis/tratamiento farmacológico , Trombosis/etiologíaRESUMEN
BACKGROUND: Optimal management of aorta mural thrombus (AMT) continues to be controversial. The aim of this study was to describe the management of AMT in the thoracic aorta with either conservative or stent-graft treatment and to analyze the role of morphological characteristics of thrombus in the selection of suitable candidates for intervention. METHODS: A retrospective review was conducted of all patients admitted for thoracic AMT. Clinical data, treatment used, and outcomes were recorded. Patients were divided in two groups according to the treatment used: either conservative or stent-graft. Morphological features of thrombus, including size, sessile or pedunculated aspect and mobility, were compared between the two groups. RESULTS: From January 2006 to March 2013, 13 consecutive patients (nine male, mean age 53, range 37-76) were admitted for symptomatic (n = 8) or asymptomatic AMT (n = 5). All patients received unfractionated heparin. Management of primary aortic thrombus required stent-graft in seven patients, aortic thrombectomy in one, and anticoagulation therapy alone in five. Indications for intervention were recurrent embolism (n = 4), occurrence of embolism under heparin (n = 1), or persistent thrombus (n = 2). Endovascular exclusion of AMT was successful in all cases, with no complications or deaths at 30 days and no recurrence at midterm. Analysis of the morphological features of the thrombus identified solely the high degree mobility as associated with adverse outcome (p = .048). CONCLUSION: In our experience, stent-graft exclusion of AMT is an effective approach. Systematic evaluation of thrombus mobility by a real-time imaging study can be helpful to better define the indications for radical treatment of the aortic lesion.
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Aorta Torácica/cirugía , Stents , Trombosis/terapia , Adulto , Anciano , Anticoagulantes/uso terapéutico , Aorta Torácica/diagnóstico por imagen , Enfermedades de la Aorta/complicaciones , Enfermedades de la Aorta/cirugía , Embolia/etiología , Embolia/terapia , Femenino , Humanos , Masculino , Persona de Mediana Edad , Radiografía , Estudios Retrospectivos , Prevención Secundaria , Trombosis/complicaciones , Resultado del TratamientoRESUMEN
INTRODUCTION: MacLeod syndrome, also known as Swyer-James syndrome, is a rare syndrome characterized by unilateral lung hyperlucency. It is a form of constrictive bronchiolitis which is caused by repeated acute bronchiolitis and/or pulmonary infections during infancy. CASE REPORT: The patient was a 26-year-old man who had had a first left pneumothorax at the age of 21. He smokes tobacco. When he was 1-year-old he had experienced repeated episodes of acute bronchiolitis. At age 26, he suffered from a second left pneumothorax which was wrongly diagnosed as a recurrent drain-resistant pneumothorax. Misdiagnosed, he underwent a chemical pleurodesis during thoracoscopy. As a hyperlucency remained in the left upper part of the lung on chest X-ray, further investigations were undertaken and a diagnosis of MacLeod syndrome was made. CONCLUSIONS: MacLeod syndrome is rare. It can be associated with pneumothorax which can be a source of misdiagnosis and error in the management of these patients. Therefore, the diagnostic criteria and therapeutic indications are reiterated. The probable mechanism of association between pneumothorax and Macleod syndrome is also discussed.
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Pulmón Hiperluminoso/diagnóstico por imagen , Neumotórax/diagnóstico por imagen , Adulto , Bronquiolitis/complicaciones , Dolor en el Pecho/etiología , Terapia Combinada , Drenaje , Disnea/etiología , Humanos , Pulmón Hiperluminoso/etiología , Pulmón Hiperluminoso/cirugía , Masculino , Pleurodesia , Neumotórax/etiología , Neumotórax/cirugía , Neumotórax/terapia , Recurrencia , Fumar , Tomografía Computarizada por Rayos XRESUMEN
We reviewed data collected during several studies concerning the genetic isolate of Carloforte (Sardinia, Italy) and analyzed new data on Y-chromosome markers. Carloforte is also a language island, where people still speak Tabarchino, an archaic form of Ligurian dialect. Demographic data indicate that, in the early years of its history, the Carloforte population was characterized by a high degree of endogamy and consanguinity rates that started to decrease around 1850, when marriages with Sardinian people began to occur more frequently. Cultural factors, mainly language, account for the high endogamy. Genetic data from classical markers, mtDNA, and Y-chromosome markers confirmed the strong isolation of the Carloforte population, which appears significantly different from the neighboring population of Sardinia. Analysis of mtDNA emphasizes the crucial aspect of sampling strategy-two different samplings of the same population (one based on founder surnames; the other based on grandparents' criterion) gave different results. Founder surnames sampling is not affected by recent events, and therefore it better describes the ancestral population, whereas, grandparents' criterion sampling gives a picture of the present population, shaped by more recent events, such as migration and gene flow. This review further supports the notion that a comprehensive approach, including a detailed knowledge of the history of the population and the collection of different samplings, is essential in anthropology for reconstructing past and recent events that contributed to establishing the present genetic structure of the population. Likewise, it is essential in medical genetics to identify genes involved in complex diseases. An ideal scenario is offered by a genetic isolate with a recent, and well-documented, history, such as Carloforte, that can ba a paradigm for this type of investigation.
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Marcadores Genéticos/genética , Genética de Población , Cromosomas Humanos Y , Consanguinidad , ADN Mitocondrial/genética , Femenino , Efecto Fundador , Variación Genética , Haplotipos , Humanos , Italia , Lingüística , Masculino , Reacción en Cadena de la PolimerasaRESUMEN
OBJECTIVE: To review prevalence, risk factors and mechanisms of thrombosis in rheumatoid arthritis (RA). METHODS: Available medical literature on PubMed was reviewed and relevant information summarized. RESULTS: Patients affected by RA present an increased risk of thromboembolism, an important cause of morbidity and mortality. Research is focused on the role of disease-associated risk factors and predisposing conditions such as endothelial dysfunction, hypercoagulability, pro-thrombotic conditions, inflammatory markers, immobility and complications following major knee or hip replacement. CONCLUSION: Thrombosis is a possible manifestation in RA patients. A number of factors are suspected to play a role in the increased thromboembolic risk. The mechanisms responsible for thrombosis in these patients remain unclear, however, the identification of the thrombophilic risk factors is clinically useful to determine in which patients occurrence is more likely.
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Artritis Reumatoide/complicaciones , Trombofilia/complicaciones , Trombosis/etiología , Antiinflamatorios no Esteroideos/uso terapéutico , Artritis Reumatoide/fisiopatología , Humanos , Factores de Riesgo , Trombofilia/fisiopatología , Trombosis/fisiopatología , Trombosis/prevención & controlRESUMEN
Infected aneurysm of the abdominal aorta is an uncommon and highly lethal disease, with a >80% rate of death. It is uncommonly associated with spondylodiscitis. Management of this rare association of pathology remains controversial. This report details the case of a patient with a large vascular past history, presenting a scarce association of disease: a ruptured infected aneurysm of the abdominal aorta with a spondylodiscitis due to Gemella haemolysans. The patient recovered quickly and durably, thanks to an unusual cooperation of both vascular surgeons and orthopedists: He underwent an in situ graft replacement and a front vertebral fixation in a single-step surgery. Good immediate and midterm outcome shows a new way of treatment in this rare but severe situation.
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Aneurisma Infectado/cirugía , Aneurisma de la Aorta Abdominal/cirugía , Rotura de la Aorta/cirugía , Implantación de Prótesis Vascular , Trasplante Óseo , Discitis/cirugía , Osteotomía , Staphylococcaceae/aislamiento & purificación , Anciano , Aneurisma Infectado/microbiología , Aneurisma Infectado/patología , Antibacterianos/uso terapéutico , Aneurisma de la Aorta Abdominal/microbiología , Aneurisma de la Aorta Abdominal/patología , Rotura de la Aorta/microbiología , Rotura de la Aorta/patología , Aortografía/métodos , Prótesis Vascular , Implantación de Prótesis Vascular/instrumentación , Tornillos Óseos , Trasplante Óseo/instrumentación , Terapia Combinada , Conducta Cooperativa , Desbridamiento , Discitis/microbiología , Discitis/patología , Humanos , Fijadores Internos , Angiografía por Resonancia Magnética , Masculino , Osteotomía/instrumentación , Grupo de Atención al Paciente , Vacunas Neumococicas , Diseño de Prótesis , Tomografía Computarizada por Rayos X , Resultado del TratamientoRESUMEN
OBJECTIVE: Analysis of the association between psoriatic arthritis (PsA) clinical forms and MICA gene transmembrane polymorphisms. METHODS: Patients were classified as having peripheral asymmetric oligoarthritis (AO), peripheral symmetric poly-arthritis (PA) and spondylitis (SP), or disease combinations (PA/SP, OA/SP). Two hundred and twenty-six patients with PsA were typed for MICA exon 5 microsatellite (TM) by heteroduplex analysis and compared with 225 normal controls. RESULTS: MICA-TM microsatellite typing revealed that, among the different clinical forms of PsA, only the combined PA/SP subset shows a significant positive association with MICA-A9 and a lower frequency of MICA-A4, A5 genotype in PsA patients with a decrease, only in the PA/SP cohort, of all MICA-A5 combinations except MICA-A5, -A9. CONCLUSION: These results suggest a role for genes within the HLA region in the pathogenesis of PsA, and reinforce the idea that the different forms of PsA may have heterogeneous genetic basis.