RESUMEN
Breast cancer is the most common cancer among women worldwide. Molecular and clinical evidence indicated that Fragile X Messenger Ribonucleoprotein 1 (FMRP) plays a role in different types of cancer, including breast cancer. FMRP is an RNA binding protein that regulates the metabolism of a large group of mRNAs coding for proteins involved in both neural processes and in epithelial-mesenchymal transition, a pivotal mechanism that in cancer is associated to tumor progression, aggressiveness and chemoresistance. Here, we carried out a retrospective case-control study of 127 patients, to study the expression of FMRP and its correlation with metastasis formation in breast cancer. Consistent with previous findings, we found that FMRP levels are high in tumor tissue. Two categories have been analyzed, tumor with no metastases (referred as control tumors, 84 patients) and tumor with distant metastatic repetition, (referred as cases, 43 patients), with a follow-up of 7 years (mean). We found that FMRP levels were lower in both the nuclei and the cytoplasm in the cases compared to control tumors. Next, within the category cases (tumor with metastases) we evaluated FMRP expression in the specific sites of metastasis revealing a nuclear staining of FMRP. In addition, FMRP expression in both the nuclear and cytoplasmic compartment was significantly lower in patients who developed brain and bone metastases and higher in hepatic and pulmonary sites. While further studies are required to explore the underlying molecular mechanisms of FMRP expression and direct or inverse correlation with the secondary metastatic site, our findings suggest that FMRP levels might be considered a prognostic factor for site-specific metastasis.
Asunto(s)
Neoplasias de la Mama , Síndrome del Cromosoma X Frágil , Neoplasias Mamarias Animales , Animales , Humanos , Femenino , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/metabolismo , Estudios de Casos y Controles , Estudios Retrospectivos , Proteínas/metabolismo , Neoplasias de la Mama/genética , Síndrome del Cromosoma X Frágil/genéticaRESUMEN
OBJECTIVE: Breast cancer (BC) is the leading diagnosis in premenopausal patients. Lockdown measures during COVID-19 pandemic reduced facilities for premenopausal patients, impairing oncological and reproductive health. To reduce its effect, a telehealth program called insenoallasalute.it was designed in Italy. PATIENTS AND METHODS: A national-based multicentric observational study was undertaken by insenoallasalute.it study group (Italian Ministry of Health, Modena Hospital and Tor Vergata University Hospital) to raise awareness among women on a) BC and its negative role on reproductive health; b) increase adherence to screening programs and self-examination; c) present oncofertility strategies. A web-based platform with two sections was designed: an informative section and a telehealth application activated with a mobile one-time password. After a self-evaluation test to select premenopausal women with maternal desire and family or personal history for BC or ovarian cancer, and premenopausal women with maternity desires with prior medically assisted procreation, a dedicated agenda for telehealth evaluation was displayed and planned. In case the patients fulfilled the criteria for further evaluation, they were invited to perform an outpatient evaluation in one of the pilot centers. RESULTS: From July 2021 to December 2021, 2,830 single accounts were activated, and 2,450 (86.57%) completed the tests. 53 patients were selected to undergo telehealth consultation and 40 (80.0%) scheduled the telehealth visit. 6 patients underwent surgery in the study centers. CONCLUSIONS: In our experience insenoallasalute.it embodied an innovative solution to spread BC awareness, BC screening program, and oncofertility opportunities in the oncological population.
Asunto(s)
Neoplasias de la Mama , COVID-19 , Preservación de la Fertilidad , Telemedicina , Humanos , Femenino , Embarazo , Neoplasias de la Mama/epidemiología , COVID-19/epidemiología , Pandemias/prevención & control , Control de Enfermedades TransmisiblesRESUMEN
Chronic degenerative non-communicable diseases (CDNCDs), in particular chronic kidney disease, induce gut microbiota (GM) dysbiosis, which, in turn, worsens the progression of CDNCDs and patients' quality of life. We analyzed literature studies to discuss the possible positive and beneficial impact of physical activity on GM composition and CV risk in CKD patients. Regular physical activity seems to be able to positively modulate the GM, reducing the systemic inflammation and consequently the production of uremic gut-derived toxins, which are directly correlated with the increase of cardiovascular risk. In particular, the accumulation of indoxyl sulphate (IS) seems to be able to induce vascular calcifications, vascular stiffness and cardiac calcifications, while p-Cresyl sulphate (p-CS) seems to be able to exert a cardiotoxic action through metabolic pathways, capable of inducing oxidative stress. In addition, trimethylamine N-oxide (TMAO) can alter lipid metabolism, inducing the production of foam cells and causing an accelerated atherosclerosis process. In this context, a regular physical activity program seems to represent an adjuvant non-pharmacological approach to the clinical management of CKD patients.
Asunto(s)
Enfermedades Cardiovasculares , Microbioma Gastrointestinal , Insuficiencia Renal Crónica , Humanos , Calidad de Vida , Factores de Riesgo , Ejercicio Físico , Factores de Riesgo de Enfermedad CardiacaAsunto(s)
COVID-19/epidemiología , COVID-19/cirugía , Toma de Decisiones , Brotes de Enfermedades , HumanosRESUMEN
PURPOSE: During the past months, the Italian Government has reduced the restrictions and access to hospitals. Since then, up to 40% of non-traumatic abdominal emergencies have had unusual delayed treatment. Given the rapidly evolving situation and the absence of evidence to support recommendations during the pandemic, it is useful to assess how the current situation is influencing the management of elderly with acute appendicitis. METHODS: Between February 2020 and December 2020, all patients older than 68 years old undergone appendectomy were included. Surgical approach, hospital stay, post-operative complications, radiology reports, and histologic examination were included in the retrospective analysis and compared with a same sample of the same period before the pandemic. RESULTS: Twenty-seven patients underwent appendectomy for acute appendicitis during the pandemic and 34 patients in the pre-outbreak period. Laparoscopic approach was completed in 51.8% of the cases, while conversion to laparotomy in 22.3% of patients and open procedure in the 25.9%, before the pandemic 73.6%, 14.7%, and 11.7%, respectively. During the pandemic, complicated appendicitis occurred in 59.3% of the cases (26.5% before the outbreak). One patient was treated for a pelvic abscess, while no minor complications were detected. No mortality rate was reported, with a mean hospital stay of 5.64 days during the outbreak and 4.21 days before the pandemic. CONCLUSION: Our data highlighted a partial delay in diagnosis in the elderly group, and an increase in complicated appendicitis also demonstrated by the need for conversion to laparotomy.
Asunto(s)
Apendicitis , COVID-19 , Laparoscopía , Anciano , Apendicectomía , Apendicitis/epidemiología , Apendicitis/cirugía , Humanos , Tiempo de Internación , Pandemias , Complicaciones Posoperatorias/epidemiología , Estudios Retrospectivos , SARS-CoV-2RESUMEN
OBJECTIVE: To assess the magnitude of COVID-19 spread and the associated risk factors among health care workers (HCWs), we conducted an in-hospital survey in a central Italian COVID Hospital. METHODS: Participants underwent nasopharyngeal swab and/or serum collection for SARS-CoV-2 IgG examination. We divided participants according to working status, into rotating-night shift workers (r-NSW) and day-workers. RESULTS: We found 30 cases of COVID-19 infection in a total of 1180 HCWs (2.5%). Most COVID-19-positive hospital employees were r-NSWs with significantly higher BMI than that of individuals who tested negative. After adjustment for covariates, night work and BMI > 30 were associated with a markedly greater risk of COVID-19 diagnosis (OR 3.049 [95%CI 1.260-7.380] and OR 7.15 [95%CI 2.91-17.51], respectively). CONCLUSIONS: Our results describe a low prevalence of COVID-19 infection among HCWs at a central Italian COVID Hospital. COVID-19 infection risk appears to be associated with obesity and night shift work, thus supporting the need for careful health surveillance among frontline HCWs exposed to COVID-19.
Asunto(s)
Índice de Masa Corporal , COVID-19/epidemiología , Personal de Salud/estadística & datos numéricos , Horario de Trabajo por Turnos , Anciano , Prueba de COVID-19 , Femenino , Humanos , Inmunoglobulina G/inmunología , Italia/epidemiología , Masculino , Persona de Mediana Edad , Obesidad/complicaciones , Obesidad/epidemiología , Personal de Hospital , Prevalencia , Factores de Riesgo , Encuestas y CuestionariosRESUMEN
Psychotherapy is the cornerstone of treatment for borderline personality disorder (BPD) while pharmacotherapy should be considered only as an adjunctive intervention. In clinical practice, however, most of BPD patients only receive medication. The aim of the study is to first describe pharmacological treatment in BPD patients in Italy and secondly to evaluate if comorbidity or illness severity are associated with the prescription of different class compounds. Data on pharmacological treatment and clinical evaluation of 75 BPD patients were collected in 5 clinical settings. The association between comorbidity and medication was assessed. Moreover, we evaluated the association between pharmacotherapy and severity, defined by a cluster analysis aimed at detecting different groups of patients. Most of the participants (82.7%) were characterized by polypharmacy, with a mean of 2.4 medications per person. Interestingly, the prescription didn't seem to depend on/be based on the severity of the disorder and was only partially determined by the presence of comorbidity. In conclusion, our findings are similar to what described in other clinical studies, supporting the idea that medication management for BPD is only partially coherent with international guidelines. This pilot study confirms the need for more rigorous studies to gain greater understanding of this topic and diminish the gap between guidelines and the real clinical world.
Asunto(s)
Trastorno de Personalidad Limítrofe/terapia , Prescripciones de Medicamentos/estadística & datos numéricos , Guías de Práctica Clínica como Asunto , Pautas de la Práctica en Medicina/estadística & datos numéricos , Psicoterapia/métodos , Psicotrópicos/uso terapéutico , Adulto , Anciano , Trastorno de Personalidad Limítrofe/epidemiología , Trastorno de Personalidad Limítrofe/psicología , Comorbilidad , Femenino , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , Proyectos Piloto , Polifarmacia , Índice de Severidad de la EnfermedadRESUMEN
OBJECTIVE: Breast conserving surgery (BCS) followed by radiotherapy is the standard of care for most patients with early breast cancers; however, the aesthetic outcomes of this procedure is not always desirable. Oncoplastic breast surgery is an innovative approach that aims at the safe and effective treatment of the cancerous lesion while achieving the best possible aesthetic outcome. The aim of this study was to evaluate and compare oncoplastic and non-oncoplastic procedures. PATIENTS AND METHODS: A retrospective observational study was conducted on a group of patients who underwent oncoplastic or non-oncoplastic breast surgery at the Breast Unit of the University of Rome Tor Vergata. RESULTS: Out of 211 patients, 154 (73%) underwent non-oncoplastic surgery, while 61 (27%) underwent an oncoplastic procedure. The percentage of patients requiring re-excision was twice greater for women in the non-oncoplastic group: 12.9% vs. 6.5% in the oncoplastic group. The rate of complications was higher in the oncoplastic group compared to the non-oncoplastic one (4.9% vs. 1.3%). The size of the tumor, the number of the patients receiving post-operative radiation, the interval between surgery and radiotherapy and follow-up were similar between the two groups. CONCLUSIONS: Oncoplastic surgery represents a valid alternative to breast conserving surgery for patients with breast cancer, with only minimal differences in long-term complications and similar results in terms of local recurrence and number of metastasis.
Asunto(s)
Neoplasias de la Mama/cirugía , Mastectomía Segmentaria , Recurrencia Local de Neoplasia/cirugía , Femenino , Humanos , Mamoplastia , Mastectomía , Estudios RetrospectivosRESUMEN
An optical detection method, Raman chemical imaging spectroscopy (RCIS), is reported, which combines Raman spectroscopy, fluorescence spectroscopy, and digital imaging. Using this method, trace levels of biothreat organisms are detected in the presence of complex environmental backgrounds without the use of amplification or enhancement techniques. RCIS is reliant upon the use of Raman signatures and automated recognition algorithms to perform species-level identification. The rationale and steps for constructing a pathogen Raman signature library are described, as well as the first reported Raman spectra from live, priority pathogens, including Bacillus anthracis, Yersinia pestis, Burkholderia mallei, Francisella tularensis, Brucella abortus, and ricin. Results from a government-managed blind trial evaluation of the signature library demonstrated excellent specificity under controlled laboratory conditions.
Asunto(s)
Bacillus anthracis/química , Brucella abortus/química , Burkholderia mallei/química , Francisella tularensis/química , Espectrometría Raman/métodos , Yersinia pestis/química , Bacillus anthracis/clasificación , Brucella abortus/clasificación , Burkholderia mallei/clasificación , Francisella tularensis/clasificación , Procesamiento de Imagen Asistido por Computador/instrumentación , Procesamiento de Imagen Asistido por Computador/métodos , Microscopía Fluorescente/instrumentación , Microscopía Fluorescente/métodos , Tamaño de la Partícula , Ricina/química , Sensibilidad y Especificidad , Espectrometría Raman/instrumentación , Yersinia pestis/clasificaciónRESUMEN
BACKGROUND: Foramen of Morgagni's hernia is an uncommon congenital diaphragmatic hernia. Repair is mostly performed through laparotomy. We prefer the transthoracic approach, which allows better and safer control during thoracic dissection, although it is considered more painful and related to greater morbidity. In recent years we introduced the transxiphoid hand-assisted videothoracoscopic approach, which combines the advantages of the thoracic route with a mini-invasive procedure facilitated by one hand inside the chest. METHODS: A retrospective review was performed over a 20-year period (1985-2005). Twenty-two patients who had a foramen of Morgagni's hernia repaired were identified and relevant data were collected. Average age was 57 +/- 10 years and one half of the patients were asymptomatic. Chest roentgenograms, chest computerized tomography, and barium enema were used as diagnostic utilities. Posterolateral thoracotomy was performed in 17 (15 right-sided) patients, whereas in 5 (all right-sided) the defect was repaired by transxiphoid hand-assisted videothoracoscopy. Operative time, pain scored by visual analog scale, hospital stay, and cosmetic results by acceptance score were reviewed for every patient. RESULTS: Hernial sac was present in all cases and contained only omentum (n = 13), omentum plus transverse colon (n = 7), omentum plus transverse colon and small bowel (n = 2). In 6 patients (2 videothoracoscopy) we repaired the large defects with polypropylene mesh. Videothoracoscopy achieved significant good results compared to thoracotomy in operative time (85 +/- 7.9 versus 110 +/- 11.3 min, p < 0.01), 24-h visual analog scale (3.5 +/- 1.1 versus 6.7 +/- 3.9, p < 0.01), hospital stay (2.6 +/- 0.5 versus 6.4 +/- 1.2 days, p < 0.01), and acceptance score (4.3 +/- 0.5 versus 3.1 +/- 0.8, p < 0.05). Postoperative course was always uneventful. Patients were followed for an average period of 58.6 +/- 14.7 and 109.7 +/- 43.5 months, respectively: no recurrences were found in any group. CONCLUSIONS: We believe that the transthoracic approach is a safe and effective method for repairing Morgagni's hernia. The videothoracoscopic approach is a promising alternative and it may be facilitated by introducing a hand inside the chest.
Asunto(s)
Hernia Diafragmática/cirugía , Cirugía Torácica Asistida por Video/métodos , Toracotomía/métodos , Adulto , Anciano , Procedimientos Quirúrgicos Electivos/métodos , Femenino , Estudios de Seguimiento , Hernia Diafragmática/diagnóstico , Hernias Diafragmáticas Congénitas , Humanos , Masculino , Registros Médicos , Persona de Mediana Edad , Procedimientos Quirúrgicos Mínimamente Invasivos/métodos , Complicaciones Posoperatorias/fisiopatología , Probabilidad , Estudios Retrospectivos , Medición de Riesgo , Sensibilidad y Especificidad , Índice de Severidad de la Enfermedad , Cirugía Torácica Asistida por Video/efectos adversos , Toracoscopía/métodos , Resultado del TratamientoRESUMEN
BACKGROUND: The SRY gene encodes for a testis-specific transcription factor (TDF, testis determining factor) that plays a key role in sexual differentiation and development in males. Several SRY mutations have been described in patients with gonadal dysgenesis, accounting for 10-15% of the sex reversal cases. The reported mutations are both point mutations and deletions, mostly involving the high mobility group (HMG) box domain of SRY, which is a conserved region through the evolution, suggesting that SRY function strictly depends on the HMG box. CASE PRESENTATION: Here we describe the clinical, endocrinological and molecular data of a patient with complete 46, XY gonadal dysgenesis caused by SRY mutation located within the conserved HMG box. Using DNA direct sequencing of the SRY coding region, we identified a single nucleotide insertion at codon 89 with subsequent frameshift of the reading frame sequence, which results in a truncated protein as consequence of an introduction of a stop codon at the position 103. CONCLUSION: A novel SRY mutation has been described in a female with a gonadal dysgenesis associated with a 46, XY karyotype. The described case is of importance for genetic counseling.
Asunto(s)
Mutación del Sistema de Lectura , Genes sry , Disgenesia Gonadal 46 XY/genética , Adolescente , Secuencia de Aminoácidos , Secuencia de Bases , ADN/genética , Femenino , Humanos , Masculino , Datos de Secuencia Molecular , Proteína de la Región Y Determinante del Sexo/química , Proteína de la Región Y Determinante del Sexo/genéticaRESUMEN
Nineteen children born to patients with panic disorder and a comparison group of 16 children born to unaffected, non-psychiatric patient subjects exposed to novel and mildly stressful situations (visiting an unfamiliar place and watching a movie containing anxiogenic scenes) were assessed for their behaviors, heart rate, respiratory rate and salivary cortisol secretion. At arrival children born to patients with panic disorder had significantly longer latency of first spontaneous verbal comment, fewer prosocial behavior, and increased distress and attachment behavior. During the projection of the movie, children of the two groups differed for attachment, distress, and exploration behaviors. During the anxiogenic scenes children born to patients with panic disorder showed increased behavioral inhibition and higher heart rate. Autonomic modulation, respiratory rates and cortisol secretion were similar in the two groups. Some distinct psychophysiological patterns may constitute early manifestations of the transmitted liability to panic disorder.
Asunto(s)
Nivel de Alerta/genética , Hijo de Padres Discapacitados/psicología , Trastorno de Pánico/genética , Estrés Psicológico/complicaciones , Adaptación Psicológica/fisiología , Nivel de Alerta/fisiología , Sistema Nervioso Autónomo/fisiopatología , Niño , Preescolar , Femenino , Frecuencia Cardíaca/genética , Frecuencia Cardíaca/fisiología , Humanos , Hidrocortisona/metabolismo , Masculino , Trastorno de Pánico/fisiopatología , Trastorno de Pánico/psicología , Determinación de la Personalidad , Valores de Referencia , Respiración/genética , Respiración/fisiología , Factores de Riesgo , Saliva/metabolismo , Conducta SocialRESUMEN
The sources of errors which may occur when cytophotometric analysis is performed with video microscopy using a charged-coupled device (CCD) camera and image analysis are reviewed. The importance of these errors in practice has been tested, and ways of minimizing or avoiding them are described. Many of these sources of error are known from scanning and integrating cytophotometry; they include the use of white instead of monochromatic light, the distribution error, glare, diffraction, shading distortion, and inadequate depth of field. Sources of errors specifically linked with video microscopy or image analysis are highlighted as well; these errors include blooming, limited dynamic range of grey levels, non-linear responses of the camera, contrast transfer, photon noise, dark current, read-out noise, fixed scene noise and spatial calibration. Glare, contrast transfer, fixed scene noise, depth of field and spatial calibration seem to be the most serious sources of errors when measurements are not carried out correctly. We include a table summarizing all the errors discussed in this review and procedures for avoiding them. It can be concluded that if accurate calibration steps are performed and proper guidelines followed, image cytometry can be applied safely for quantifying amounts of chromophore per cell or per unit volume of tissue in sections, even when relatively simple and inexpensive instrumentation is being used.
Asunto(s)
Técnicas Citológicas , Técnicas Citológicas/normas , ADN/análisis , Procesamiento de Imagen Asistido por Computador/métodos , Microscopía , Fotometría , Coloración y Etiquetado/métodos , Grabación en VideoRESUMEN
The authors examined postural sway in 112 normal subjects by means of a computerized force platform system. The performances of 14 subjects (7 males and 7 females) for each of these age groups: 12-15, 16-19 and the six next decades until 79 years were considered. The posturographic test requires two trials, one with eyes open and another with eyes closed, with patients in Romberg's position. On the average eyes-closed measurements have always been greater than those with eyes open. Moreover this study shows that during the growth the characteristics of postural control are different between the two sexes and as regards adult performances. During ageing a progressive significant stability impairment, especially upon visual deprivation, was shown.