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OBJECTIVE: The purpose of this manuscript is to highlight the behaviour of mucus inside the ducts of the major salivary glands, in presence of typical pathologies, through images obtained with sialendoscopy. SUBJECT: The authors present and comment on some sialendoscopies that show mucous plug in the ducts of the major salivary glands. RESULTS: In primary Sjogren's syndrome, mucous plugs confirm the qualitative anomaly of the mucins and acidification saliva. Instead, salivary calculations behave like foreign bodies that generate mechanical pressure and friction on the duct walls of major salivary glands, so mucus deposits in the duct in its defence; in case of infected stone, mucous plugs are formed also with the function of protecting the ducts from the aggression of germs. During sialadenitis, there is a conflict between mucus and bacteria which explains sialendoscopic evidence such as white duct walls and mucous plugs. CONCLUSIONS: The study of the salivary ducts through sialendoscopy often confirms the clinical diagnosis or hypothesize it. During its execution, it is necessary not only to liberate the ducts of the major salivary glands but also analyse the appearance of the mucous plugs and the ductal walls as they are useful to guide the physician towards diagnosis.
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Sialadenitis , Síndrome de Sjögren , Endoscopía/métodos , Humanos , Mucinas , Moco , Saliva , Conductos Salivales , Sialadenitis/patología , Síndrome de Sjögren/diagnósticoRESUMEN
To assess the relationship between resilience and several diseases and individual features in primary SjÓ§gren's Syndrome (SS) patients. Resilience was assessed using the Resilience Scale (RS-14). Disease activity, damage, and reported symptoms were assessed by means of ESSDAI (EULAR Sjögren's syndrome disease activity index), SSDDI (SjÓ§gren's Syndrome Disease Damage Index) and ESSPRI (EULAR SjÓ§gren's Syndrome Patient Reported Index). EuroQol, HADS (Hospital Anxiety and Depression Scale), SF-12 (Short-form 12 health survey), FAS (Fatigue Assessment Scale), FACIT-F (Functional Assessment of Chronic Illness Therapy - Fatigue), and IPAQ (International Physical Activity Questionnaire) questionnaires were submitted to evaluate physical and mental well-being of the recruited patients. Data about the autoimmune profile, systemic manifestations, and current therapy were collected. Educational qualifications and work activities were also considered. Descriptive, correlational, and linear regression analysis were performed. 74 consecutive women with primary SS and 74 sex and age-matched healthy subjects as a control group were recruited. SS patients displayed a moderate value of resilience (median 78.5) with no significant difference compared to controls (p = 0.38). An inverse relationship was found between resilience and mood disorders such as anxiety (p = 0.038) and depression (p < 0.001). Greater resilience was associated with a better perception of the quality of life (p = 0.02) and general health (p < 0.001), as well as with less fatigue (p = 0.008) and a more physically active lifestyle (p = 0.001). No significant relationship was found neither between resilience and age, socio-demographic and disease characteristics, nor with ESSDAI (p = 0.26), ESSPRI (p = 0.83) and SSDDI (p = 0.67). This is the first study assessing resilience in a large group of unselected primary SS patients. Most resilient primary SS patients are less depressed and show a better perception of their health. Greater resilience tends to correlate with less anxiety, physical and mental fatigue, and a more active lifestyle, while no association with disease activity and duration, damage, and socio-demographic features was detected. Considering the well-known role of resilience in helping to better cope with chronic illnesses, its assessment in SS patients should not be overlooked and the possible strategies for its improvement should be better explored and further implemented.
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Resiliencia Psicológica , Síndrome de Sjögren/psicología , Adulto , Anciano , Anciano de 80 o más Años , Ansiedad/etiología , Ansiedad/psicología , Estudios Transversales , Depresión/etiología , Depresión/psicología , Fatiga/etiología , Femenino , Humanos , Italia , Persona de Mediana Edad , Calidad de Vida , Síndrome de Sjögren/complicaciones , Encuestas y CuestionariosRESUMEN
OBJECTIVES: SS is an autoimmune condition characterized by systemic B-cell activation, autoantibody production and ectopic germinal centres' formation within the salivary gland (SG). The extent of SG infiltrate has been proposed as a biomarker of disease severity. Plasma levels of CXCL13 correlate with germinal centres' activity in animal models and disease severity in SS, suggesting its potential use as a surrogate serum marker to monitor local B-cell activation. The aim of this study was to evaluate the potential role of CXCL13 as a biomarker of SG pathology in two independent SS cohorts. METHODS: 109 patients with SS were recruited at Sapienza University of Rome (Italy) (n = 60), or at Queen Elizabeth Hospital in Birmingham and Barts Health NHS Trust in London (n = 49). Both sera and matched minor SG biopsy were available. Sicca (n = 57) and healthy subjects' (n = 19) sera were used as control. RESULTS: CXCL13 serum level was higher in SS patients compared with controls. Correlations between its serum levels and a series of histomorphological parameters, including size of the aggregates and the presence germinal centres', were observed. CONCLUSION: Our data foster the use of CXCL13 to monitor the extent of local pathology in SS and its validation in longitudinal clinical studies.
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Linfocitos B/inmunología , Quimiocina CXCL13/sangre , Inmunidad Celular , Glándulas Salivales Menores/patología , Síndrome de Sjögren/sangre , Adulto , Linfocitos B/patología , Biomarcadores/sangre , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Retrospectivos , Síndrome de Sjögren/inmunología , Síndrome de Sjögren/patologíaRESUMEN
PURPOSE: Sudden sensorineural hearing loss (SSNHL) has similarities to conditions with vascular etiologies such as myocardial infarction and cerebral stroke. Thus, it could be considered as an early sign of a vascular disease and not only a specific local condition. Chronic hypoperfusion in the brain districts leads to a chronic ischemic damage, called cerebral small vessel disease (CSVD), detectable with brain magnetic resonance imaging (MRI). METHODS: The authors used CSVD to establish the presence of vascular risk factors in individuals with SSNHL and used the Fazekas score scale to classify them. RESULTS: Our study showed that individuals with SSNHL aged between 48 and 60 years have 26% more probability to have a Fazekas score higher than 1 compared to the general population. Individuals younger than 28 years showed a statistically significant negative correlation to have a Fazekas score higher than 0. The higher is the Fazekas score, the less is the probability of hearing recovery. The medium hearing-recovery probability is 46%. This decreases by 16% for every increase of score in the Fazekas scale. In the present study, the recovery probability decreased from 80% in individuals younger than 48 years with a score of 0 to 14% in individuals with a Fazekas scores of 3 and 4. CONCLUSIONS: The authors assessed a higher prevalence of CSVD compared to the general population in patients aged between 48 and 60 years with SSNHL. Moreover, they assessed that the presence of CSVD is related to a decreased probability of recovery, as it has already been demonstrated for stroke.
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Encéfalo/patología , Enfermedades de los Pequeños Vasos Cerebrales/complicaciones , Enfermedades Cocleares/etiología , Pérdida Auditiva Sensorineural/etiología , Pérdida Auditiva Súbita/etiología , Imagen por Resonancia Magnética , Sustancia Blanca/patología , Adolescente , Adulto , Factores de Edad , Anciano , Encéfalo/diagnóstico por imagen , Estudios de Casos y Controles , Enfermedades de los Pequeños Vasos Cerebrales/diagnóstico por imagen , Enfermedades de los Pequeños Vasos Cerebrales/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Estudios Retrospectivos , Factores de Riesgo , Índice de Severidad de la Enfermedad , Sustancia Blanca/diagnóstico por imagen , Adulto JovenRESUMEN
In the original publication, fifth author's surname was incorrectly published as "Diacinto". The correct surname should read as "Diacinti".
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OBJECTIVE: To evaluate olfactory function and clinical-neurological characteristics in a group of patients with mild head trauma. METHODS: A total of 352 patients with MTBI underwent olfactory function evaluation. The site of head trauma, loss of consciousness <20 min, memory loss, subjective presence or absence of olfaction and other clinical, neurological and radiological aspects were evaluated and compared with the olfactory dysfunction. RESULTS: A total of 33.5% patients enrolled in the study had an olfactory dysfunction. Eighty-seven percent of the patients had a diagnosis of anosmia whereas 13% had a diagnosis of hyposmia. Statistical analysis did not show a correlation between radiologically detected head lesions and different types of olfactory dysfunction (p > 0.05). Besides, no difference between head lesion site and different olfactory dysfunction was reported (p = 0.5). Regarding olfactory sub-tests a low detection threshold was present in these patients. CONCLUSION: The possibility of olfactory dysfunction should be considered in any case of MTBI appears differently than expected, a minor head injury causes anosmia much more frequently than hyposmia.
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Lesiones Traumáticas del Encéfalo/complicaciones , Trastornos del Olfato/diagnóstico , Trastornos del Olfato/etiología , Adolescente , Adulto , Lesiones Traumáticas del Encéfalo/diagnóstico por imagen , Niño , Preescolar , Trastornos de la Conciencia/etiología , Femenino , Escala de Coma de Glasgow , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Trastornos de la Memoria/diagnóstico , Trastornos de la Memoria/etiología , Examen Neurológico , Estudios Retrospectivos , Tomógrafos Computarizados por Rayos X , Adulto JovenRESUMEN
There is a growing awareness that children may experience hyperacusis, a condition that is often associated with behavioral and developmental disorders. This preliminary study was aimed to investigate the effects of hyperacusis alone on various components of speech and language in children without developmental disorders. This study was conducted on 109 children aged between 4 and 7 years attending kindergarten and primary school. Hyperacusis was assessed through behavioral observation of children and questionnaires for parents. Different components of speech and language were assessed through specific tests. Hyperacusis was diagnosed in fifteen children (13.8%); ten (66.7%) were attending primary school and five (33.3%) kindergarten. A significant difference between children with and without hyperacusis was found for tests evaluating the average number of words in a sentence and phonemic fluency; older children appeared to have more difficulties. Several differences in education profiles were found: parents of children with hyperacusis spent less time with their children compared to parents of children without hyperacusis. Our preliminary results suggest some difficulties in lexical access and the use of shorter sentences by children with hypersensitivity to sound; however, the small size of our sample and the largely unknown interactions between hyperacusis and developmental disorders suggest caution when interpreting these results. Further studies on larger samples are necessary to gain additional knowledge on the effects of hyperacusis on speech and language in children without developmental disorders.
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Lenguaje Infantil , Hiperacusia/fisiopatología , Fonación/fisiología , Habla/fisiología , Factores de Edad , Niño , Preescolar , Humanos , Hiperacusia/diagnóstico , Relaciones Padres-Hijo , Encuestas y Cuestionarios , Factores de TiempoRESUMEN
Acute rhinosinusitis (ARS) is defined as an inflammation of the mucosa of the nose and paranasal sinuses and affects 1-5 % of general population in Europe. Sinonasal diseases represent the main cause of smell alterations in adult patients and lead to mucosal congestion, increased quantity and density of secretions and altered mucociliary transport. For this reason the odorous molecules contained in the inspired air, cannot interact with the olfactory epithelium. Medical therapy of ARS has to reduce the severity and duration of symptoms and prevent complications. Recent studies have shown that Sodium hyaluronate modulate inflammation and has a reparative effect on the nasal mucosa. 48 patients affected by acute rhinosinusitis proven by CT scan, were enrolled. They were submitted to nasal endoscopy, olfactometric and mucociliary transport evaluation (MCTt), Visual Analogue Scale Questionnaire (VAS) at T0, after 14-18 days (T1) and after 30-35 days (T2). The patients were randomized into two treatment groups, A and B, and were treated for 30 days; each group was composed of 24 subjects. All patients received Levofloxacin (500 mg for 10 days) and Prednisone (50 mg for 8 days, 25 mg for 4 days and 12, 5 mg for 4 days). Moreover, Group A received twice a day for 30 days high molecular weight Sodium Hyaluronate (3 %) plus saline solution (3 mL sodium chloride-NaCl-0.9 %) using a nebulizer ampoule for nasal douche. Group B received twice a day for 30 days saline solution (6 mL sodium chloride-NaCl-0.9 %) using a nebulizer ampoule for nasal douche. At T1 Group A shown lower values in MCTt and threshold score was significantly higher than in Group B. VAS showed statistically significant differences between the two groups, in particular for smell, nasal obstruction and for nasal discharge. At T2 Group A MCTt was significantly lower than in Group B; odour threshold improved in both groups but in Group A was still significantly higher than in Group B. No statistical differences between two groups regarding odour discrimination and odour identification were confirmed at T1 and T2. VASy score showed statistically significant differences between the two groups only for nasal discharge.
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Adyuvantes Inmunológicos/uso terapéutico , Ácido Hialurónico/uso terapéutico , Trastornos del Olfato/tratamiento farmacológico , Rinitis/cirugía , Sinusitis/cirugía , Enfermedad Aguda , Administración Intranasal , Adulto , Quimioterapia Adyuvante , Enfermedad Crónica , Endoscopía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Depuración Mucociliar , Mucosa Nasal , Trastornos del Olfato/etiología , Rinitis/complicaciones , Sinusitis/complicaciones , Cloruro de Sodio/administración & dosificación , Encuestas y CuestionariosRESUMEN
OBJECTIVES: To assess the sleep quality in primary Sjögren's syndrome (pSS) patients and evaluate its relationship with the disease, quality of life and mood disorders. METHODS: The sleep quality of 29 pSS women and 29 matched controls was assessed by the Pittsburgh Sleep Quality Index (PSQI). Seven domains are grouped according to three factors: F1 perceived sleep quality (subjective sleep quality, sleep latency, use of sleeping medication), F2 sleep efficiency (sleep duration, habitual sleep efficiency) and F3 daily disturbances (sleep disturbances, daytime dysfunction). These domains are scored as a single factor of global sleep quality. The Short Form Health Survey (SF-36), Functional Assessment of Chronic Illness Therapy (FACIT) fatigue scale and Hospital Anxiety and Depression Scale (HADS) were also administered. Disease activity and damage were evaluated with the EULAR Sjögren's syndrome disease activity index (ESSDAI), the Sjögren's Syndrome Disease Activity and Damage Indexes (SSDAI, SSDDI). RESULTS: The mean PSQI global score had higher pathological values (8.6±4.6) compared with controls (5.6±2.2) (p=0.002). F1 and F3 were significantly worse in cases (p=0.01, p=0.009). A negative correlation was found between SF-36 subscales and the global PSQI, F2 and F3. The anxiety HADS correlated with F2 and F3, while depression only with F3. No correlation with FACIT and disease indexes emerged. CONCLUSIONS: Using PSQI, an impaired sleep quality was demonstrated in pSS patients, especially with perceived quality and the daily disturbances. It is associated with a reduced quality of life but not with disease-related variables.
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Trastornos del Humor , Calidad de Vida , Síndrome de Sjögren , Trastornos del Sueño-Vigilia , Adulto , Anciano , Estudios de Casos y Controles , Femenino , Humanos , Italia , Masculino , Persona de Mediana Edad , Trastornos del Humor/diagnóstico , Trastornos del Humor/etiología , Trastornos del Humor/fisiopatología , Escalas de Valoración Psiquiátrica , Síndrome de Sjögren/diagnóstico , Síndrome de Sjögren/psicología , Trastornos del Sueño-Vigilia/diagnóstico , Trastornos del Sueño-Vigilia/etiología , Trastornos del Sueño-Vigilia/fisiopatología , Encuestas y CuestionariosRESUMEN
Radiofrequency volumetric tissue reduction is a minimally invasive technique in the treatment of turbinate hypertrophy and is generally performed under local anesthesia. However, perioperative discomfort and pain are common side effects and studies concerning the technique of choice to anesthetize the nasal mucosa in this procedure are lacking. The aim of this prospective controlled trial is to assess the effectiveness of EMLA(®) cream as a topical anesthetic for radiofrequency volumetric tissue reduction of inferior turbinates comparing its effect with that obtained using a traditional anesthetic technique. 200 consecutive patients undergoing volumetric tissue reduction with topical anesthesia were enrolled. Patients were divided into two groups: Group A included 100 patients treated by placing cotton pledgets soaked with lidocaine 10% in the inferior meatus followed by the injection of 2% lidocaine into the head of the inferior turbinate; Group B included 100 patients treated with EMLA(®) cream. Patients were evaluated before and after surgery using rhinomanometry for obstructive symptoms. Four VAS about pain, troublesome swallowing, choking sensation and intraoperative anxiety were submitted to each patient immediately after surgery and after 2 months to assess various aspects of perioperative discomfort. A significant increase of nasal airflow was observed without differences between the two groups. Subjective evaluation regarding perioperative discomfort showed significant differences between Groups A and B immediately after surgery although it was less pronounced 2 months later. The results of this study suggest that EMLA(®) cream is an efficient tool in obtaining an adequate anesthetic effect in this procedure.
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Anestesia Local/métodos , Enfermedades Óseas/cirugía , Ablación por Catéter/métodos , Lidocaína/administración & dosificación , Procedimientos Quirúrgicos Otorrinolaringológicos/métodos , Prilocaína/administración & dosificación , Cornetes Nasales/cirugía , Adolescente , Adulto , Anciano , Anestésicos Locales/administración & dosificación , Femenino , Estudios de Seguimiento , Humanos , Hipertrofia/cirugía , Combinación Lidocaína y Prilocaína , Masculino , Persona de Mediana Edad , Pomadas , Estudios Prospectivos , Resultado del Tratamiento , Adulto JovenRESUMEN
INTRODUCTION: Statins, in the role of anti-cancer agents, have been used in many types of cancers with results in some cases promising while, in others, disappointing. AREAS COVERED: The purpose of this review is to identify and highlight data from literature on the successes or failure of using statins as anti-cancer agents. We asked ourselves the following two questions:1. Could statins, which are taken mostly to reduce cardiovascular risk, guarantee a lower incidence or a better cancer disease prognosis, concerning local recurrence, metastasis or mortality?2. Does statins intake (before and/or after cancer diagnosis) improve the prognosis or increase the chemotherapeutic action when combined with other anticancer therapies? For the first question twenty-seven manuscripts have been selected, for the second one, twenty-eight. EXPERT OPINION: There are data which correlate statins with a possible tumor suppressive action among the following cancers: breast, lung, prostate and head and neck. Lastly, for gastric cancer and colorectal there is no evidence of a correlation. The onco-suppressive efficacy of statins is mainly related to the histopathological and/or molecular characteristics of the tumor cells, which have different characteristics.
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Antineoplásicos , Inhibidores de Hidroximetilglutaril-CoA Reductasas , Neoplasias , Animales , Humanos , Antineoplásicos/farmacología , Antineoplásicos/administración & dosificación , Inhibidores de Hidroximetilglutaril-CoA Reductasas/farmacología , Inhibidores de Hidroximetilglutaril-CoA Reductasas/administración & dosificación , Recurrencia Local de Neoplasia , Neoplasias/tratamiento farmacológico , Neoplasias/patología , PronósticoRESUMEN
BACKGROUND: The association between KFD and autoimmune diseases, not only with systemic lupus erythematosus, has been repeatedly described. OBJECTIVE: The aim of this review is to evaluate whether an overlap syndrome is present between KFD and autoimmune diseases, whether there is a chronological and a casual relationship between the pathologies. METHODS: The databases used for the overlap case search were Medline and Embase from which we extrapolated the studies of interest. The search queries used were: Kikuchi-Fujimoto Syndrome and juvenile idiopathic arthritis or systemic lupus erythematosus or Systemic Sclerosis or Antiphospholipid Syndrome or Sjogren's Syndrome. All study types were considered (n = 103). RESULTS: Total number of included studies are 43. We have shown that there is an "overlap" syndrome between KFD and other autoimmune diseases. The chronology of disease onset was variable; autoimmune disease may be "preceding" (n = 11 cases) or "simultaneous" (n = 20 cases) or "post" (n = 8 cases). Kikuchi-Fujimoto Syndrome. Also, the autoimmune disease can present with a complete clinical picture or only with the presence of autoantibodies. CONCLUSION: the different pathologies associated with KFD with different chronologies would suggest that there is an alteration of the immune system that allows the pathologies to occur in different temporal relationships.
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Síndrome Antifosfolípido , Artritis Juvenil , Linfadenitis Necrotizante Histiocítica , Lupus Eritematoso Sistémico , Síndrome de Sjögren , Humanos , Linfadenitis Necrotizante Histiocítica/diagnóstico , Linfadenitis Necrotizante Histiocítica/complicaciones , Linfadenitis Necrotizante Histiocítica/patología , Lupus Eritematoso Sistémico/complicaciones , Síndrome Antifosfolípido/complicaciones , Síndrome de Sjögren/complicaciones , Artritis Juvenil/complicacionesRESUMEN
Primary Sjögren's Syndrome (pSS) is a systemic autoimmune disease that primarily attacks the lacrimal and salivary glands, resulting in impaired secretory function characterized by xerostomia and xerophthalmia. Patients with pSS have been shown to have impaired salivary gland innervation and altered circulating levels of neuropeptides thought to be a cause of decreased salivation, including substance P (SP). Using Western blot analysis and immunofluorescence studies, we examined the expression levels of SP and its preferred G protein-coupled TK Receptor 1 (NK1R) and apoptosis markers in biopsies of the minor salivary gland (MSG) from pSS patients compared with patients with idiopathic sicca syndrome. We confirmed a quantitative decrease in the amount of SP in the MSG of pSS patients and demonstrated a significant increase in NK1R levels compared with sicca subjects, indicating the involvement of SP fibers and NK1R in the impaired salivary secretion observed in pSS patients. Moreover, the increase in apoptosis (PARP-1 cleavage) in pSS patients was shown to be related to JNK phosphorylation. Since there is no satisfactory therapy for the treatment of secretory hypofunction in pSS patients, the SP pathway may be a new potential diagnostic tool or therapeutic target.
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Síndrome de Sjögren , Humanos , Sustancia P/metabolismo , Receptores de Neuroquinina-1/metabolismo , Glándulas Salivales/metabolismoRESUMEN
Early decannulation, performed within the first ten days after supracricoid partial laryngectomy, can result in a more rapid recovery of swallowing function with a semisolid bolus in the short term, about 30 days. We selected 20 patients with squamous cell carcinoma of larynx, who underwent supracricoid laryngectomies: 10 cricohyoidopexy (CHP) and 10 cricohyoidoepiglottopexy (CHEP). Staging was pT2 (10 pts), and pT3 (10 pts). Fiberoptic endoscopic evaluation of swallowing was used to assess postoperative swallowing function after a mean of 12 and 22 days from surgery. A modified PAS score (penetration-aspiration scale) was assigned for subtotal laryngectomies. Decannulation occurred after 6.7 ± 2.1 days. Univariate analysis showed that the type of surgery (CHP or CHEP), pT, resection of one arytenoid, and decannulation time are significantly associated with the 12-day PAS score. The 22-day PAS score is significantly associated with only 3 variables: type of surgery, pT, and resection of one arytenoid. From the data presented, the factors that most delay an effective recovery of swallowing are T3 and the resection of one arytenoid. Early decannulation has been shown statistically to improve PAS score in the short term, but not in the long term.
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Rheumatoid arthritis rarely involves the cricoarytenoid joint. The possible consequent symptom includes hoarseness, dysphagia, odynophagia, dysfunctional dysphonia, and acute dyspnea. Etiologic diagnosis is possible with high-resolution computed tomography, which can show spacing of the articular cartilage, density and volume alterations, and subluxation of the cartilage. However, these radiologic signs are not pathognomonic for rheumatoid arthritis, and they should be combined with anamnestic data.
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Artritis Reumatoide/diagnóstico por imagen , Cartílago Aritenoides/diagnóstico por imagen , Cartílago Cricoides/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Diagnóstico Diferencial , Femenino , Humanos , Persona de Mediana EdadRESUMEN
OBJECTIVE: This aim of this study was to determine the prevalence of thrombophilic risk factors in sudden sensorineural hearing loss, central retinal vein occlusion, and stroke associated with small vessel disease, with the purpose of investigating and reinforcing the vascular hypothesis in the pathogenesis of sudden sensorineural hearing loss. DESIGN: Case-control study. Genetic and acquired risk factors of these three groups were compared with healthy controls. STUDY SAMPLE: Forty-nine, 60, and 101 patients affected respectively by sudden sensorineural hearing loss, central retinal vein occlusion, or stroke associated with small vessel disease, enrolled during a three-year period were compared with 210 healthy controls. RESULTS: The frequency of hyperhomocysteinemia (homocysteine ≥ 15 µmol/L) was higher in each disease group than in controls. A statically significant, albeit weak, correlation between the MTHFR C677T mutation and hyperhomocysteinemia was found in all three diseases. CONCLUSIONS: Hyperhomocysteinemia proved to be a risk factor for sudden sensorineural hearing loss. Based on these results, we propose to analyse homocysteine in sudden sensorineural hearing loss patients and, if its values are high, to evaluate the presence of MTHFR C677T mutation.
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Pérdida Auditiva Sensorineural/etiología , Pérdida Auditiva Súbita/etiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , Enfermedades de los Pequeños Vasos Cerebrales/epidemiología , Femenino , Homocigoto , Humanos , Hiperhomocisteinemia/epidemiología , Masculino , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Persona de Mediana Edad , Análisis Multivariante , Mutación , Oclusión de la Vena Retiniana/epidemiología , Estudios Retrospectivos , Factores de Riesgo , Accidente Cerebrovascular/epidemiología , Adulto JovenRESUMEN
OBJECTIVE: Salivary gland epithelial cells (SGECs) are key cellular drivers in the pathogenesis of primary Sjögren's syndrome (SS); however, the mechanisms sustaining SGEC activation in primary SS remain unclear. We undertook this study to determine the role of autophagy in the survival and activation of SGECs in primary SS. METHODS: Primary SGECs isolated from the minor SGs of patients with primary SS or sicca syndrome were evaluated by flow cytometry, immunoblotting, and immunofluorescence to assess autophagy (autophagic flux, light chain 3 IIB [LC3-IIB], p62, LC3-IIB+/lysosome-associated membrane protein 1 [LAMP-1] staining), apoptosis (annexin V/propidium iodide [PI], caspase 3), and activation (intercellular adhesion molecule, vascular cell adhesion molecule). Focus score and germinal center presence were assessed in the SGs from the same patients to assess correlation with histologic severity. Human SG (HSG) cells were stimulated in vitro with peripheral blood mononuclear cells (PBMCs) and serum from primary SS patients in the presence or absence of autophagy inhibitors to determine changes in autophagy and epithelial cell activation. RESULTS: SGECs from primary SS patients (n = 24) exhibited increased autophagy (autophagic flux [P = 0.001]; LC3-IIB [P = 0.02]; p62 [P = 0.064]; and as indicated by LC3-IIB/LAMP-1+ staining), increased expression of antiapoptotic molecules (Bcl-2 [P = 0.006]), and reduced apoptosis (annexin V/PI [P = 0.002]; caspase 3 [P = 0.057]), compared to samples from patients with sicca syndrome (n = 16). Autophagy correlated with histologic disease severity. In vitro experiments on HSG cells stimulated with serum and PBMCs from primary SS patients confirmed activation of autophagy and expression of adhesion molecules, which was reverted upon pharmacologic inhibition of autophagy. CONCLUSION: In primary SS SGECs, inflammation induces autophagy and prosurvival mechanisms, which promote SGEC activation and mirror histologic severity. These findings indicate that autophagy is a central contributor to the pathogenesis of primary SS and a new therapeutic target.
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Síndrome de Sjögren , Anexina A5 , Autofagia , Caspasa 3/metabolismo , Moléculas de Adhesión Celular/metabolismo , Humanos , Leucocitos Mononucleares/metabolismo , Factores de Transcripción/metabolismoRESUMEN
The methylenetetrahydrofolate reductase C677T mutation, factor V G1691A (factor V Leiden) mutation, prothrombin G20210A mutation and 8 other laboratory values associated with increased thrombotic risk were analyzed in 40 patients with sudden sensorineural hearing loss (SSHL). The results were compared with those obtained from 120 controls not affected by SSHL. We found a statistically significant higher frequency of hyperhomocysteinemia in the SSHL group compared with controls, and that this was also associated with the presence of homozygosity for the MTHFR C677T mutation. The study results suggest that SSHL might be caused, among other factors, by a combination of these 2 variables. We suggest that this analysis of the MTHFR C677T mutation should be further investigated to establish the etiology of SSHL, and that the same analysis should be taken into account in those patients with high levels of homocysteine.
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Factor V/genética , Predisposición Genética a la Enfermedad , Pérdida Auditiva Sensorineural/genética , Pérdida Auditiva Súbita/genética , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Protrombina/genética , Adulto , Anciano , Alelos , Femenino , Genotipo , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Mutación , Factores de RiesgoRESUMEN
BACKGROUND: We assessed the cases of intraoperative spillage of primary pleomorphic adenomas (PPAs) of the parotid gland in the literature, comparing them with our own cases. We aim to explain how the surgeon should manage a spillage during surgery (i.e., how to avoid spreading the contents that are coming out of the tumor). We also aim to investigate whether or not spillage is linked to a higher rate of PPA recurrence. METHODS: We collected surgical and pathological reports, taking data on capsular ruptures and the spillage of tumors. RESULTS: Intraoperative tumor spillage and tumor rupture occurred in 34/202 cases. There were three recurrences after a mean of 3.7 years (mean follow-up duration: 10.3 years). One recurrence happened to a patient who had an intraoperative tumor spillage, and two more recurrences happened to patients who did not have spillage. CONCLUSION: We believe that the real number of the events of spillage is underestimated and underreported by surgeons. Capsular rupture must always be avoided, and secure resection margins must always be pursued, independent of the type of parotidectomy being performed. Features that increase the risk of recurrence are an intraoperative rupture and the presence of satellite nodules (as recorded in the pathologist's report). In these cases, patients need a longer follow-up period.