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BACKGROUND: Little is known about prognostic factors of brain metastases (BM) from colorectal cancer (CRC). HER2 amplification/overexpression (HER2+) was previously described; its impact on prognosis remains uncertain. METHODS: In the translational study HEROES, extensive molecular analysis was performed on primary CRC (prCRC) and their matched resected BM by means of NGS comprehensive genomic profiling and HER2 status as assessed by immunohistochemical/ in situ hybridization. Count of tumour-infiltrating lymphocytes (TILs) was also performed. PRIMARY OBJECTIVE: to describe the molecular landscape of paired BM/prCRC. SECONDARY OBJECTIVES: to search for new prognostic biomarkers of outcome after BM resection: intracranial-only Progression-Free Survival (BM-iPFS), Progression-Free Survival (BM-PFS), and Overall Survival (BM-OS). RESULTS: Out of 22 patients having paired samples of prCRC and BM, HER2+ was found on 4 (18%) BM, 3 (75%) of which also HER2+ in matched prCRC. Lower tumour mutation burden (HR 3.08; 95%CI 1.06-8.93; p = 0.0386) and HER2-negative BM (HER2neg) (HR 7.75;95%CI 1.97-30.40; p = 0.0033) were associated with longer BM-iPFS; HER2neg BM (HR 3.44; 95%CI 1.03-11.53; p = 0.0449) and KRASmut BM (HR 0.31; 95%CI 0.12-0.80; p = 0.0153) conferred longer BM-PFS. Longer BM-OS was found in pts with TILs-enriched (≥1.6/HPF) BM (HR 0.11; 95%CI0.01-0.91; p = 0.0403). CONCLUSIONS: This study shows HER2+ enrichment in both BM and their prCRC. TILs-enriched BM conferred better BM-OS.
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Neoplasias Encefálicas , Neoplasias Colorretais , Humanos , Prognóstico , Genômica , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/cirurgia , Neoplasias Encefálicas/metabolismo , Neoplasias Colorretais/genética , Neoplasias Colorretais/cirurgiaRESUMO
BACKGROUND: Chronic rhinosinusitis with nasal polyps (CRSwNP) is a predominantly type 2 inflammation-mediated disease of the nasal mucosa and paranasal sinuses that often coexists with asthma. The role of atopy in the development and severity of CRSwNP is still a controversial issue. OBJECTIVE: The aim of our study was to propose a systematic allergy workup to identify atopic patients in the context of CRSwNP and to characterize their allergen sensitization profile (sources/molecules). METHODS: Patients with a diagnosis of CRSwNP (n = 97) were studied in the otorhinolaryngologist and allergy settings. Demographic and clinical data were collected for each patient. Different allergen sensitization profiles (sources/molecules) were evaluated in atopic CRSwNP patients by using component-resolved diagnosis (CRD). RESULTS: In our cohort of patients, the CRSwNP was frequently diagnosed during adulthood with significant impact on health-related quality of life. Asthma and atopy were the most common comorbidities with a prevalence of asthma in the atopic group. In CRSwNP patients sensitized to grass pollens and/or to house dust mites, the CRD analysis revealed a prevalence of sensitization to species-specific allergens of Phleum pratense (Phl p1, Phl p2, and Phl p5) or Dermatophagoides pteronyssinus (Der p1 and Der p2) rather than to cross-reactive ones. CONCLUSION: To define the allergen sensitization profile in atopic CRSwNP patients by CRD, it may be useful to better characterize type 2 inflammation, thus providing a personalized endotype-driven treatment.
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Asma , Hipersensibilidade Imediata , Hipersensibilidade , Pólipos Nasais , Sinusite , Adulto , Alérgenos , Asma/diagnóstico , Asma/epidemiologia , Doença Crônica , Humanos , Hipersensibilidade/epidemiologia , Inflamação , Pólipos Nasais/complicações , Pólipos Nasais/diagnóstico , Pólipos Nasais/epidemiologia , Qualidade de Vida , Sinusite/diagnóstico , Sinusite/epidemiologiaRESUMO
Malignant glioma (MG) is a devastating neurological disease with a uniformly poor prognosis and a clinical course characterized by progressive functional and cognitive impairment. A small body of literature addresses patients' and caregivers' prognostic awareness (PA), or understanding of prognosis in patients with cancer. Studies that examine PA and desire for prognostic information among patients with MG are limited. We sought to review the existing literature on PA and communication of prognostic information to patients with MG. Fourteen studies examining PA or experience and preferences regarding communication of prognostic information were included. The definition and measurement of PA across studies varied, and the prevalence of accurate PA ranged from 25 to 100 % of participants. There is likely a subset of patients who do not desire accurate prognostic information, although the patient and disease characteristics that predict this preference are currently unknown. This review suggests that patients with MG desire prognostic information communicated in a manner that preserves hope. Systematic investigation to define communication needs for prognostic information in the unique clinical setting of MG is needed.
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Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/psicologia , Comunicação , Glioma/diagnóstico , Glioma/psicologia , Atitude Frente a Saúde , Conscientização , Humanos , Relações Médico-Paciente , PrognósticoRESUMO
Activated phosphoinositide 3-kinase (PI3Kδ) Syndrome (APDS) is an inborn error of immunity (IEI) with a variable clinical presentation, characterized by infection susceptibility and immune dysregulation that may overlaps with other Primary Immune Regulatory Disorders (PIRDs). The rarity of the disease, its recent discovery, and the multiform /multifaced clinical presentation make it difficult to establish a correct diagnosis, especially at an early stage. As a result, the true prevalence of the pathology remains unknown. There is no treatment protocol for APDS, and drug therapy is primarily focused on treating symptoms. The most common therapies include immunoglobulin replacement therapy, antimicrobial prophylaxis, and immunosuppressive drugs. Hematopoietic stem cell transplantation (HSCT) has been used in some cases, but the risk-benefit balance remains unclear. With the upcoming introduction of specific medications, such as selective inhibitors for PI3Kδ, clinicians are shifting their attention towards target therapy.This review provides a comprehensive overview of APDS with a focus on diagnostic and treatments procedures available. This review may be useful in implementing strategies for a more efficient patients' management and therapeutic interventions.Main Text.
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Classe I de Fosfatidilinositol 3-Quinases , Doenças da Imunodeficiência Primária , Humanos , Doenças da Imunodeficiência Primária/diagnóstico , Doenças da Imunodeficiência Primária/terapia , Itália , Transplante de Células-Tronco HematopoéticasRESUMO
Initially described as a triad of immunodeficiency, congenital heart defects and hypoparathyroidism, 22q11.2 deletion syndrome (22q11.2DS) now encompasses a great amount of abnormalities involving different systems. Approximately 85% of patients share a 3 Mb 22q11.2 region of hemizygous deletion in which 46 protein-coding genes are included. However, the hemizygosity of the genes of this region cannot fully explain the clinical phenotype and the phenotypic variability observed among patients. Additional mutations in genes located outside the deleted region, leading to "dual diagnosis", have been described in 1% of patients. In some cases, the hemizygosity of the 22q11.2 region unmasks autosomal recessive conditions due to additional mutations on the non-deleted allele. Some of the deleted genes play a crucial role in gene expression regulation pathways, involving the whole genome. Typical miRNA expression patterns have been identified in 22q11.2DS, due to an alteration in miRNA biogenesis, affecting the expression of several target genes. Also, a methylation epi-signature in CpG islands differentiating patients from controls has been defined. Herein, we summarize the evidence on the genetic and epigenetic mechanisms implicated in the pathogenesis of the clinical manifestations of 22q11.2 DS. The review of the literature confirms the hypothesis that the 22q11.2DS phenotype results from a network of interactions between deleted protein-coding genes and altered epigenetic regulation.
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Síndrome de DiGeorge , Cardiopatias Congênitas , MicroRNAs , Humanos , Síndrome de DiGeorge/genética , Epigênese Genética , Fenótipo , Cardiopatias Congênitas/genéticaRESUMO
BACKGROUND: The TOPAZ-1 phase III trial reported a survival benefit with the anti-programmed cell death ligand 1 (anti-PD-L1) durvalumab in combination with gemcitabine and cisplatin in patients with advanced biliary tract cancer (BTC). OBJECTIVE: The present study investigated for the first time the impact on survival of adding durvalumab to cisplatin/gemcitabine compared with cisplatin/gemcitabine in a real-world setting. PATIENTS AND METHODS: The analyzed population included patients with unresectable, locally advanced, or metastatic BTC treated with durvalumab in combination with cisplatin/gemcitabine or with cisplatin/gemcitabine alone. The impact of adding durvalumab to chemotherapy in terms of overall survival (OS) and progression free survival (PFS) was investigated with univariate and multivariate analysis. RESULTS: Overall, 563 patients were included in the analysis: 213 received cisplatin/gemcitabine alone, 350 received cisplatin/gemcitabine plus durvalumab. At the univariate analysis, the addition of durvalumab was found to have an impact on survival, with a median OS of 14.8 months versus 11.2 months [hazard ratio (HR) 0.63, 95% confidence interval (CI) 0.50-0.80, p = 0.0002] in patients who received cisplatin/gemcitabine plus durvalumab compared to those who received cisplatin/gemcitabine alone. At the univariate analysis for PFS, the addition of durvalumab to cisplatin/gemcitabine demonstrated a survival impact, with a median PFS of 8.3 months and 6.0 months (HR 0.57, 95% CI 0.47-0.70, p < 0.0001) in patients who received cisplatin/gemcitabine plus durvalumab and cisplatin/gemcitabine alone, respectively. The multivariate analysis confirmed that adding durvalumab to cisplatin/gemcitabine is an independent prognostic factor for OS and PFS, with patients > 70 years old and those affected by locally advanced disease experiencing the highest survival benefit. Finally, an exploratory analysis of prognostic factors was performed in the cohort of patients who received durvalumab: neutrophil-lymphocyte ratio (NLR) and disease stage were to be independent prognostic factors in terms of OS. The interaction test highlighted NLR ≤ 3, Eastern Cooperative Oncology Group Performance Status (ECOG PS) = 0, and locally advanced disease as positive predictive factors for OS on cisplatin/gemcitabine plus durvalumab. CONCLUSION: In line with the results of the TOPAZ-1 trial, adding durvalumab to cisplatin/gemcitabine has been confirmed to confer a survival benefit in terms of OS and PFS in a real-world setting of patients with advanced BTC.
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Anticorpos Monoclonais , Protocolos de Quimioterapia Combinada Antineoplásica , Neoplasias do Sistema Biliar , Cisplatino , Desoxicitidina , Gencitabina , Humanos , Cisplatino/uso terapêutico , Cisplatino/farmacologia , Cisplatino/administração & dosagem , Desoxicitidina/análogos & derivados , Desoxicitidina/uso terapêutico , Desoxicitidina/farmacologia , Desoxicitidina/administração & dosagem , Masculino , Feminino , Neoplasias do Sistema Biliar/tratamento farmacológico , Neoplasias do Sistema Biliar/patologia , Estudos Retrospectivos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/farmacologia , Idoso , Pessoa de Meia-Idade , Anticorpos Monoclonais/uso terapêutico , Anticorpos Monoclonais/farmacologia , Anticorpos Monoclonais/administração & dosagem , Adulto , Idoso de 80 Anos ou maisRESUMO
BACKGROUND: The TOPAZ-1 phase III trial showed a survival benefit with durvalumab plus gemcitabine and cisplatin in patients with advanced biliary tract cancer (BTC). To understand this combination's real-world efficacy and tolerability, we conducted a global multicenter retrospective analysis of its first-line treatment outcomes. METHODS: We included patients with unresectable, locally advanced, or metastatic BTC treated with durvalumab, gemcitabine, and cisplatin at 39 sites in 11 countries (Europe, the United States, and Asia). The primary endpoint was overall survival (OS). RESULTS: 666 patients were enrolled. Median OS was 15.1 months and median PFS was 8.2 months. The investigator-assessed overall response rate was 32.7 %, with stable disease in 45.2 % of patients. High baseline CEA levels, ECOG PS > 0, metastatic disease, and NLR > 3 were associated with poor survival. Any grade adverse events (AEs) occurred in 92.9 % of patients (grade >2: 46.6 %). Immune-related AEs (irAEs) occurred in 20.0 % (grade >2: 2.5 %). Three deaths (0.5 %) were deemed treatment-related, none linked to immunotherapy. Common irAEs were rash (8.2 % all grades; 0.3 % grade >2), itching (10.3 % all grades; 0.2 % grade >2), and hypothyroidism (5.1 % all grades; 0.3 % grade >2). Durvalumab discontinuation rate due to AEs was 1.5 %. ESMO-recommended genes were analyzed and no outcome differences were found. A comparative analysis with a historical cohort of patients treated with chemotherapy alone confirmed the positive survival impact of durvalumab in combination with cisplatin/gemcitabine. CONCLUSION: This first global real-world analysis largely confirmed the TOPAZ-1 findings, supporting gemcitabine, cisplatin, and durvalumab as a first-line standard of care for patients with advanced BTC.
Assuntos
Anticorpos Monoclonais , Protocolos de Quimioterapia Combinada Antineoplásica , Neoplasias do Sistema Biliar , Cisplatino , Desoxicitidina , Gencitabina , Humanos , Masculino , Cisplatino/administração & dosagem , Cisplatino/uso terapêutico , Neoplasias do Sistema Biliar/tratamento farmacológico , Neoplasias do Sistema Biliar/patologia , Neoplasias do Sistema Biliar/mortalidade , Feminino , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Desoxicitidina/análogos & derivados , Desoxicitidina/administração & dosagem , Desoxicitidina/efeitos adversos , Desoxicitidina/uso terapêutico , Pessoa de Meia-Idade , Idoso , Estudos Retrospectivos , Adulto , Anticorpos Monoclonais/administração & dosagem , Anticorpos Monoclonais/efeitos adversos , Anticorpos Monoclonais/uso terapêutico , Idoso de 80 Anos ou maisRESUMO
Background and aims: Wiskott-Aldrich syndrome (WAS) is an X-linked recessive primary immunodeficiency disorder characterized by severe eczema, recurrent infections, and micro-thrombocytopenia. Allogeneic hematopoietic stem cell transplantation (HSCT) is a potentially curative therapeutic option for patients with classic form. The risk of developing post-transplant tumors appears to be higher in patients with WAS than in other inborn errors of immunity (IEIs), but the actual incidence is not well defined, due to the scarcity of published data. Methods: Herein, we describe a 10-year-old patient diagnosed with WAS, treated with HSCT in the first year of life, who subsequently developed two rare solid tumors, kaposiform hemangioendothelioma and desmoid tumor. A review of the literature on post-HSCT tumors in WAS patients has been performed. Results: The patient received diagnosis of classic WAS at the age of 2 months (Zhu score = 3), confirmed by WAS gene sequencing, which detected the nonsense hemizygous c.37C>T (Arg13X) mutation. At 9 months, patient underwent HSCT from a matched unrelated donor with an adequate immune reconstitution, characterized by normal lymphocyte subpopulations and mitogen proliferation tests. Platelet count significantly increased, even though platelet count never reached reference values. A mixed chimerism was also detected, with a residual WASP- population on monocytes (27.3%). The patient developed a kaposiform hemangioendothelioma at the age of 5. A second abdominal tumor was identified, histologically classified as a desmoid tumor when he reached the age of 10 years. Both hematopoietic and solid tumors were identified in long-term WAS survivors after HSCT. Conclusion: Here, we describe the case of a patient with WAS who developed two rare solid tumors after HSCT. An active surveillance program for the risk of tumors is necessary in the long-term follow-up of post-HSCT WAS patients.
Assuntos
Fibromatose Agressiva , Transplante de Células-Tronco Hematopoéticas , Sarcoma de Kaposi , Síndrome de Wiskott-Aldrich , Masculino , Humanos , Lactente , Criança , Síndrome de Wiskott-Aldrich/diagnóstico , Síndrome de Wiskott-Aldrich/terapia , Síndrome de Wiskott-Aldrich/genética , Fibromatose Agressiva/etiologia , Sarcoma de Kaposi/etiologia , Transplante de Células-Tronco Hematopoéticas/efeitos adversosRESUMO
PURPOSE: Differentiated thyroid cancer (DTC) is the most common endocrine neoplasm, with a rising incidence and a long life expectancy. It has recently been suggested that patients with low- and intermediate-risk DTC with a good response to treatment at one year could be followed up using only highly sensitive immunoassays for thyroglobulin (Tg). The aim of this study was to examine the serum Tg levels in a series of DTC patients with histologically proven persistent or recurrent diseases. METHODS: The study involved 50 consecutive patients being routinely followed up at our center, whose clinical, histological, and biochemical data were retrospectively collected. RESULTS: The false-negative rate of ultrasensitive serum Tg assay was 14.3% (5/35) overall, and limited to anti-thyroglobulin autoantibodies (TgAb)-negative patients. Among them, only one patient had an excellent response to treatment at one-year follow-up and was diagnosed with a 4 mm recurrence, after more than seven years of periodic ultrasounds. The size of the neck lesion documented in the histological report was slightly larger in patients with detectable as opposed to negative Tg values (P < 0.05). CONCLUSIONS: Serum highly sensitive Tg is undetectable in a proportion of patients with a proven persistent or recurrent DTC. The reasons behind this phenomenon are still unknown. However, in low/intermediate-risk patients cured at one-year follow-up, highly sensitive Tg without neck US seems an appropriate strategy for patients' management.
Assuntos
Tireoglobulina , Neoplasias da Glândula Tireoide , Autoanticorpos , Seguimentos , Humanos , Imunoensaio , Recidiva Local de Neoplasia/diagnóstico , Estudos Retrospectivos , Neoplasias da Glândula Tireoide/diagnósticoRESUMO
The epigenome bridges environmental factors and the genome, fine-tuning the process of gene transcription. Physiological programs, including the development, maturation and maintenance of cellular identity and function, are modulated by intricate epigenetic changes that encompass DNA methylation, chromatin remodeling, histone modifications and RNA processing. The collection of genome-wide DNA methylation data has recently shed new light into the potential contribution of epigenetics in pathophysiology, particularly in the field of immune system and host defense. The study of patients carrying mutations in genes encoding for molecules involved in the epigenetic machinery has allowed the identification and better characterization of environment-genome interactions via epigenetics as well as paving the way for the development of new potential therapeutic options. In this review, we summarize current knowledge of the role of epigenetic modifications in the immune system and outline their potential involvement in the pathogenesis of inborn errors of immunity.
RESUMO
For proper and fair comparison of the performance of Oxygen reduction reaction (ORR) electrocatalysts an un-biased method to determine an onset potential value is needed. Here we report an easy mathematical approach based on the second derivative of linear sweep voltammetry curves, referred to as a second order discrete differentiation method (SODDM) that allows to accurately provide the onset potential. Analysis of the published results showed that the reported values might be affected by an intrinsic human error associated with the application of the most common approaches addressed as a tangent method or those relaying on a visual estimation of the onset potential based on the shape of a linear scan voltammetry (LSV) curve. We have also demonstrated that by using SODDM, electrochemical data collected on different instruments by different researchers leads to comparable results in terms of the ORR onset potential values.
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We present the clinical case of a man of 68 years who was admitted for dizziness and sensation of loss of conscience. The clinical examination revealed a body temperature of 37.5 degrees C and a murmur of mitral regurgitation. The echocardiogram showed a severe mitral regurgitation and left cavitie's dilatation; transesophageal echocardiogram showed a vegetation in the anterior leaflet of the mitral valve. In blood cultures grew a Gram-negative bacteria identified as Bartonella spp. A PCR demonstrated that it was a Bartonella quintana. The patient was treated with gentamicin, doxiciclin and ceftriaxone with satisfactory evolution. The remaining mitral insufficiency awaits surgical treatment.
Assuntos
Bartonella quintana/isolamento & purificação , Infecções por Bartonellaceae , Endocardite Bacteriana/microbiologia , Idoso , Antibacterianos/uso terapêutico , Infecções por Bartonellaceae/tratamento farmacológico , Ceftriaxona/uso terapêutico , Endocardite Bacteriana/tratamento farmacológico , Gentamicinas/uso terapêutico , Humanos , Masculino , Insuficiência da Valva Mitral/microbiologia , Reação em Cadeia da PolimeraseRESUMO
Most acute respiratory infections (ARIs) in children are due to viral etiology, and represent an important cause of mortality and morbidity in children <5 years old in developing countries. The pathogens that cause ARIs vary geographically and by season, and viruses serve a major role. In the present study, the distribution of the seven respiratory viruses that are more prevalent in Southern European countries were retrospectively analyzed in a Southern Italy Hospital, that centralizes pediatric diseases from the Naples province. Viruses were categorized by a FilmArray Respiratory Panel, and demonstrated no substantial differences in sex, age and seasonal viruses distribution. However, all the investigated viruses had a higher detection rate in the surrounding municipalities than in the metropolitan area of Naples. In recent years, the association between air pollution and respiratory infections has become an increasing public health concern. The data in this study support this association in the surrounding areas of Naples extensively contaminated by environmental toxic agents. In these areas, characterization of the epidemiology of ARIs is required to implement a prevention and control program.
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Intravenous drug-addiction is one of the susceptible factors for the development of infectious endocarditis and cocaine, especially when administered intravenously, can produce damage at the level of the valvular endothelium. We have studied a group of cocaine addicts to evaluate the possible existence of valvular alterations. Ninety-eight patients, addicts to intravenous injection and/or nasal insufflation, have been studied with Doppler and echocardiography and they were compared with a non-addict group of fifty persons. Valvular lesions were defined as valvular enlarging and "beaded appearance" lesions. The average age of drug-addicts was 29.1 years (SD 8.31) with a maximum of 66 year and a minimum of 14 years. Ninety-three of them were males and forty-five of them admitted to be intravenous addicts. Twenty cases showed positive serology for HIV. All of them, except one, recognized having used the intravenous route. The control group was 27.78 years old (SD 3.49) and 96% were males. Valvular lesions were found in 22.45% of addicts while no one in the control group showed any lesion (p = 0.0007). Lesions were significantly larger in the tricuspid valve (p = 0.0004). No valvular dysfunction was detected in any of the studied cases. No differences have been noticed in valvular alterations among HIV infected patients with and without reactivity to the treatment. The prevalence of valvular affection considering the way of drug administration was significantly higher in patients with intravenous addiction compared to nasal insufflation addicts, 40% versus 7.5% (p = 0.0001). A percentage of cocaine addicts here studied presented valvular alterations research being the tricuspid valve the most frequently involved. No significant valvular failure has been detected. The observed lesions could correspond to the anatomic substratum of an endocardiac infection, frequently observed in intravenous drug-addicts with lesions, usually located in the tricuspid valve.
Assuntos
Transtornos Relacionados ao Uso de Cocaína/complicações , Endocardite/diagnóstico por imagem , Doenças das Valvas Cardíacas/diagnóstico por imagem , Abuso de Substâncias por Via Intravenosa/complicações , Adolescente , Adulto , Idoso , Ecocardiografia , Endocardite/etiologia , Feminino , Infecções por HIV/diagnóstico , Doenças das Valvas Cardíacas/etiologia , Valvas Cardíacas/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Valva Tricúspide/diagnóstico por imagemRESUMO
The study evaluated the illness behavior of patients with celiac disease and the influence of the disease and its treatment on key personality components and adherence to dietary recommendations. Twenty-nine adult patients with celiac disease and 47 matched healthy comparison subjects participated in the study. More than 70% of the celiac disease group scored in the pathological range on at least one scale of the Illness Behavior Questionnaire. Patients who received the diagnosis in adulthood had a lower score for nonconformism, a greater tendency to pretend to be sociable, and higher levels of psychophysiological reactiveness, relative to the comparison subjects. The results suggest that celiac disease may be associated with changes in personality that may interfere with patients' adaptation to living with a chronic disease.
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Doença Celíaca/psicologia , Papel do Doente , Adulto , Sintomas Afetivos/diagnóstico , Sintomas Afetivos/epidemiologia , Idade de Início , Doença Celíaca/dietoterapia , Doença Celíaca/epidemiologia , Comorbidade , Feminino , Humanos , Itália/epidemiologia , Masculino , Cooperação do Paciente/psicologia , Determinação da Personalidade , Escalas de Graduação Psiquiátrica , Estatísticas não ParamétricasRESUMO
Psychic alterations have been reported in celiac disease. Our aim was to evaluate the emotional impact of celiac disease diagnosis in adulthood, the patient/doctor relationship, and the patients' cooperation with disease treatment and diet. The patients were 114 adult celiac patients on a gluten-free diet, there were 25 untreated celiac patients. Self-administered questionnaires aimed to evaluate the patients' level of knowledge of disease, the emotional impact at diagnosis, and feelings during follow-up. Celiac patients showed good knowledge of the disease, directly correlated to their socioeconomic level (P = 0.011). At diagnosis, relief was most intense feeling (Mean +/- SD, 10.82 +/- 7.63), demographics, time latency of diagnosis, and the duration of the disease had no effect on the intensity of all feelings. The scores of the self-rated emotions were entered into a principal component analysis that generated three factors: 1 (fear, anger, anxiety and sadness), 2 (reassurance and resignation), and 3 (relief); patients judged the clinicians presenting the disease "in the right way" (F = 33.279; P < 0.0001). The right way correlated with relief and reassurance (P = 0.0009; P = 0.0008 respectively). At follow-up, anger was the predominant emotion that induced patients to transgress. A positive correlation was observed between feeling different and the sadness, anger, fear (P < 0.0001 for all). Anger was inversely correlated with actual compliance to diet (P = 0.0005). In conclusion, in adult patients, adaptive and psychological aspects must be taken into account to understand the celiac patient and for better clinical management.
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Adaptação Psicológica , Doença Celíaca/psicologia , Cooperação do Paciente , Relações Médico-Paciente , Adulto , Estudos de Casos e Controles , Doença Celíaca/dietoterapia , Emoções , Feminino , Humanos , Masculino , Fatores Socioeconômicos , Inquéritos e QuestionáriosRESUMO
Presentamos el caso de un hombre de 68 años que ingresó por mareos y sensación de pérdida de la conciencia. El examen clínico reveló una temperatura de 37.5 °C y un soplo de regurgitación mitral. El ecocardiograma mostró una insuficiencia mitral grave con dilatación de las cavidades izquierdas, y el ecocardiograma transesofágico una vegetación en la valva anterior de la mitral. Los hemocultivos demostraron una bacteria Gram-negativa que luego se identificó como Bartonella spp. La PCR demostró que se trataba de una Bartonella quintana. Se trató con gentamicina, doxiciclina y ceftriaxona, evolucionando satisfactoriamente. La insuficiencia mitral remanente espera el tratamiento quirúrgico.
We present the clinical case of a man of 68 years who was admitted for dizziness and sensation of loss of conscience. The clinical examination revealed a body temperature of 37.5 °C and a murmur of mitral regurgitation. The echocardiogram showed a severe mitral regurgitation and left cavitie's dilatation; transesophageal echocardiogram showed a vegetation in the anterior leaflet of the mitral valve. In blood cultures grew a Gram-negative bacteria identified as Bartonella spp. A PCR demonstrated that it was a Bartonella quintana. The patient was treated with gentamicin, doxiciclin and ceftriaxone with satisfactory evolution. The remaining mitral insufficiency awaits surgical treatment.
Assuntos
Idoso , Humanos , Masculino , Infecções por Bartonellaceae , Bartonella quintana/isolamento & purificação , Endocardite Bacteriana/microbiologia , Antibacterianos/uso terapêutico , Infecções por Bartonellaceae/tratamento farmacológico , Ceftriaxona/uso terapêutico , Endocardite Bacteriana/tratamento farmacológico , Gentamicinas/uso terapêutico , Insuficiência da Valva Mitral/microbiologia , Reação em Cadeia da PolimeraseRESUMO
La discinesia apical transitoria es una entidad infrecuente, de descripción reciente, que se presenta como un síndrome coronario agudo, generalmente ST pero sin lesiones coronarias significativas que lo justifiquen. Se presenta un caso clínico con revisión bibliográfica actualizada.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Doença Aguda , Ecocardiografia , SíndromeRESUMO
Introducción: Debido al implante de marcapasos (MP) y cardiodesfibriladores (CDI) se ha registrado un número creciente de endocarditis infecciosa (EI) asociada con estos tipos de dispositivos. El presente estudio se realizó con el objetivo de analizar las características de esta enfermedad y compararlas con las del resto de las EI tratadas por nuestro grupo. Material y métodos: Se incorporaron pacientes de ambos sexos y cualquier edad con EI tratados en nuestro servicio en forma consecutiva desde octubre de 1994 hasta octubre de 2003. El diagnóstico de EI se efectuó con los criterios de la Duke University y su modificación para los pacientes con MP o CDI. La población se dividió en dos grupos: el grupo I estuvo constituído por los que tenían colocado un MP o CDI y el grupo II estuvo conformado por el resto de pacientes. Se estudiaron las características clínicas y bacteriológicas del grupo I y luego se compararon con el grupo II. Se utilizaron las pruebas de Student y de chi cuadrado, se calcularon los OR y el IC 95 y se aceptó como significativa una p < 0,05. Resultados: De los 85 pacientes con EI, 22 (26 por ciento) pertenecían al grupo I, 21 tenían colocado MP y 1 CDI, habiéndose efectuado el implante en nuestra institución solamente en 3 pacientes. Los pacientes del grupo I tenían una media de 62,4 años (± 17,1) y 13 (59 por ciento) eran hombres. No hubo diferencias de edad entre ambos sexos. Los pacientes del grupo II tenían una edad media de 45 años (± 19), significativamente menor que la del grupo I (p = 0,000014) y 46 (73 por ciento) eran hombres. En el grupo I la EI fue causada por S. epidermidis en el 45 por ciento de los casos y por S. aureus en el 23 por ciento. La fiebre estuvo presente en el 86,3 por ciento, los síntomas respiratorios (tos, expectoración, hemoptisis, opacidad pulmonar en la radiografía, etc., sugestivos de embolias pulmonares sépticas) en el 50 por ciento, la flogosis del bolsillo en el 36 por ciento y en el 32 por ciento se observó supuración de éste. El tiempo transcurrido desde el implante y el diagnóstico de la enfermedad fue de 1310 días de media con un rango de 7 a 3540 y solamente en 3 pacientes el diagnóstico se hizo dentro de las 6 semanas del implante (forma aguda) y el resto luego de este período (forma crónica). La sensibilidad del ecocardiograma transtorácico (ETT) y del ecocardiograma transesofágico (ETE) fue del 23 por ciento y 59 por ciento, respectivamente, y en el 67 por ciento de los casos las ...