86 research outputs found
Clinical pitfalls of leishmaniasis and Whippleâs disease hidden behind systemic lupus erythematosus: A case series
Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease that can affect major organs possibly leading to life-threatening complications and appears with heterogeneous clinical picture. SLE could present with broad spectrum of clinical and laboratory features that can resemble those of other diseases, such as hemopoietic malignancies, infections, or immune-mediated disorders. Its complexity and protean features overlap with many other diseases, hindering the differential diagnosis. Rarely, true overlap with other diseases may occur. Herein, we report a case series of two patients affected by infectious diseases, namely visceral leishmaniasis and Whippleâs disease (WD), intertwined with clinical or serological features of SLE. In both cases, several confounding factors have led to a delay in the diagnosis. Moreover, we first describe the persistent elevation of autoantibodies and a monoclonal gammopathy in a patient with WD. Awareness of unusual presentations of infections or other rare disorders, which may be encountered in clinical practice when taking care of SLE patients, is essential for timely diagnosis and treatment of potentially lethal diseases
Management of thyroid Hurthle cell neoplasms: a single centre experience and literature review = Management delle neoplasie a cellule di Hurthle della tiroide: esperienza di un singolo centro e revisione della letteratura
Aim. We report our experience on the management
of Hurthle cell neoplasms (HCNs) of the thyroid and a review of the literature in order to describe the most relevant clinical, diagnostic, biologic and therapeutic aspects. Materials and Methods. We retrospectively reviewed the clinical records of 15 consecutive patients with HCN. The male/female ratio was 1:4 and the mean age was 53.8 years. Fourteen patients underwent total thyroidectomy and one patient lobectomy. Two patients were lost to follow up. The mean follow up time was 54 months. Results. Eleven Hurthle cell adenomas and 4 carcinomas were found. At
the time of initial surgical evaluation 9 patients (60%) were symptomatic, with hyperthyroidism and dysphagia being the most frequent manifestations. Only in 6 (40%) cases the diagnosis was obtained by preoperative fine needle aspiration biopsy. Among patients with Hurthle cell adenoma and carcinoma the mean age was 51 and 62 years respectively and the mean lesion size 1.6 and 3.8 cm respectively. No cases of death or recurrence were registered. Conclusions. Clinical manifestations are similar to those for other differentiated thyroid neoplasms. Patients with Hurthle cell carcinoma presented a mean age and a mean tumor size greater than those with Hurthle cell adenoma. Our data suggest that adenomas have not a malignant potential; nevertheless surgical resection is necessary to obtain a precise evaluation of eventual infiltrative events. Surgical resection is also the treatment of choice for the treatment of carcinomas with total thyroidectomy representing the best surgical option.
Obiettivo. Riportiamo in questo articolo la nostra esperienza nel management delle neoplasie a cellule di Hurthle (HCNs) ed una revisione della letteratura allo scopo di sottolineare i piĂč importanti aspetti clinici, diagnostici, biologici e terapeutici.
Materiali e metodi. Abbiamo esaminato i dati clinici di 15 pazienti consecutivi con HCN. LâetĂ media dei pazienti era di 53,8 anni e il rapporto maschi/femmine 1:4. Quattordici pazienti sono stati sottoposti a tiroidectomia totale ed uno a lobectomia. Due pazienti sono stati persi al follow up. Il tempo medio di follow up era di 54 mesi.
Risultati. Undici pazienti sono stati trovati affetti da adenoma a cellule di Hurthle e 4 da carcinoma. Nove pazienti (60%) erano sintomatici, e solo in 6 (40%) casi la diagnosi Ăš stata ottenuta tramite biopsia con ago aspirato. LâetĂ media dei pazienti affetti da adenoma era 51 anni e di quelli con carcinoma 62. La dimensione media delle lesioni era superiore nei pazienti con carcinoma (3,8 cm verso 1,6 in quelli con adenoma). Non sono stati osservati decessi o recidive.
Conclusioni. Abbiamo osservato una differenza di etĂ e di dimensione delle lesioni tra i pazienti affetti da adenoma e quelli affetti da carcinoma. I nostri dati suggeriscono che gli adenomi a cellule di Hurthle non hanno potenziale maligno, tuttavia lâasportazione chirurgica Ăš necessaria per la valutazione di eventuali eventi infiltrativi. Il trattamento chirurgico con tiroidectomia totale o resezioni piĂč ampie ove necessario rappresenta il trattamento di scelta
per i carcinomi
Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans
Spinocerebellar ataxia type 8 (SCA8) (MIM 608768) is a dominantly inherited ataxia typically occurring in adulthood, with onset of the disease that may range from age 1 to 65 years. Common initial symptoms are scanning dysarthria with a characteristic drawn-out slowness of speech and gait instability. Some individuals present with nystagmus, dysmetric saccades and, occasionally ophthalmoplegia. Hyperreflexia and extensor plantar responses are present in some severely affected individuals. Life span is typically not shortened
Corticotroph tumor progression after bilateral adrenalectomy (Nelsonâs syndrome):systematic review and expert consensus recommendations
Corticotroph tumor progression (CTP) leading to Nelson's syndrome (NS) is a severe and difficult-to-treat complication subsequent to bilateral adrenalectomy (BADX) for Cushing's disease. Its characteristics are not well described, and consensus recommendations for diagnosis and treatment are missing
Lymphangioleiomyomatosis biomarkers linked to lung metastatic potential and cell stemness
Lymphangioleiomyomatosis (LAM) is a rare lung-metastasizing neoplasm caused by the proliferation of smooth muscle-like cells that commonly carry loss-of-function mutations in either the tuberous sclerosis complex 1 or 2 (TSC1 or TSC2) genes. While allosteric inhibition of the mechanistic target of rapamycin (mTOR) has shown substantial clinical benefit, complementary therapies are required to improve response and/or to treat specific patients. However, there is a lack of LAM biomarkers that could potentially be used to monitor the disease and to develop other targeted therapies. We hypothesized that the mediators of cancer metastasis to lung, particularly in breast cancer, also play a relevant role in LAM. Analyses across independent breast cancer datasets revealed associations between low TSC1/2 expression, altered mTOR complex 1 (mTORC1) pathway signaling, and metastasis to lung. Subsequently, immunohistochemical analyses of 23 LAM lesions revealed positivity in all cases for the lung metastasis mediators fascin 1 (FSCN1) and inhibitor of DNA binding 1 (ID1). Moreover, assessment of breast cancer stem or luminal progenitor cell biomarkers showed positivity in most LAM tissue for the aldehyde dehydrogenase 1 (ALDH1), integrin-Ă3 (ITGB3/CD61), and/or the sex-determining region Y-box 9 (SOX9) proteins. The immunohistochemical analyses also provided evidence of heterogeneity between and within LAM cases. The analysis of Tsc2-deficient cells revealed relative over-expression of FSCN1 and ID1; however, Tsc2-deficient cells did not show higher sensitivity to ID1-based cancer inhibitors. Collectively, the results of this study reveal novel LAM biomarkers linked to breast cancer metastasis to lung and to cell stemness, which in turn might guide the assessment of additional or complementary therapeutic opportunities for LAM
Low dose rate brachytherapy (LDR-BT) as monotherapy for early stage prostate cancer in Italy: practice and outcome analysis in a series of 2237 patients from 11 institutions
OBJECTIVE:
Low-dose-rate brachytherapy (LDR-BT) in localized prostate cancer is available since 15 years in Italy. We realized the first national multicentre and multidisciplinary data collection to evaluate LDR-BT practice, given as monotherapy, and outcome in terms of biochemical failure.
METHODS:
Between May 1998 and December 2011, 2237 patients with early-stage prostate cancer from 11 Italian community and academic hospitals were treated with iodine-125 ((125)I) or palladium-103 LDR-BT as monotherapy and followed up for at least 2 years. (125)I seeds were implanted in 97.7% of the patients: the mean dose received by 90% of target volume was 145âGy; the mean target volume receiving 100% of prescribed dose (V100) was 91.1%. Biochemical failure-free survival (BFFS), disease-specific survival (DSS) and overall survival (OS) were estimated using Kaplan-Meier method. Log-rank test and multivariable Cox regression were used to evaluate the relationship of covariates with outcomes.
RESULTS:
Median follow-up time was 65 months. 5- and 7-year DSS, OS and BFFS were 99 and 98%, 94 and 89%, and 92 and 88%, respectively. At multivariate analysis, the National Comprehensive Cancer Network score (pâ<â0.0001) and V100 (pâ=â0.09) were correlated with BFFS, with V100 effect significantly different between patients at low risk and those at intermediate/high risk (pâ=â0.04). Short follow-up and lack of toxicity data represent the main limitations for a global evaluation of LDR-BT.
CONCLUSION:
This first multicentre Italian report confirms LDR-BT as an excellent curative modality for low-/intermediate-risk prostate cancer.
ADVANCES IN KNOWLEDGE:
Multidisciplinary teams may help to select adequately patients to be treated with brachytherapy, with a direct impact on the implant quality and, possibly, on outcome
Antinutritional factors, nutritional improvement, and future food use of common beans : a perspective
Common bean seeds are an excellent source of protein as well as of
carbohydrates, minerals, vitamins, and bioactive compounds reducing, when
in the diet, the risks of diseases. The presence of bioactive compounds
with antinutritional properties (e.g., phytic acid, lectins, raffinosaccharides,
protease inhibitors) limits, however, the beanâs nutritional value and its wider
use in food preparations. In the last decades, concerted efforts have been,
therefore, made to develop new common bean genotypes with reduced
antinutritional compounds by exploiting the natural genetic variability of
common bean and also applying induced mutagenesis. However, possible
negative, or positive, pleiotropic effects due to these modifications, in
terms of plant performance in response to stresses or in the resulting
technological properties of the developed mutant genotypes, have yet not
been thoroughly investigated. The purpose of the perspective paper is to first
highlight the current advances, which have been already made in mutant bean
characterization. A view will be further provided on future research directions
to specifically explore further advantages and disadvantages of these bean
mutants, their potential use in innovative foods and representing a valuable
genetic reservoir of combinations to assess the true functional role of specific
seed bioactive components directly in the food matrix.The ERA-NET co-funding on Food Systems and Climate (FOSC) BIO-BELIEF project.https://www.frontiersin.org/journals/plant-sciencedm2022Plant Production and Soil Scienc
Acromegaly is associated with increased cancer risk: A survey in Italy
It is debated if acromegalic patients have an increased risk to develop malignancies. The aim of the present study was to assess the standardized incidence ratios (SIRs) of different types of cancer in acromegaly on a large series of acromegalic patients managed in the somatostatin analogs era. It was evaluated the incidence of cancer in an Italian nationwide multicenter cohort study of 1512 acromegalic patients, 624 men and 888 women, mean age at diagnosis 45 \uc2\ub1 13 years, followed up for a mean of 10 years (12573 person-years) in respect to the general Italian population. Cancer was diagnosed in 124 patients, 72 women and 52 men. The SIRs for all cancers was significantly increased compared to the general Italian population (expected: 88, SIR 1.41; 95% CI, 1.18-1.68, P < 0.001). In the whole series, we found a significantly increased incidence of colorectal cancer (SIR 1.67; 95% CI, 1.07-2.58, P = 0.022), kidney cancer (SIR 2.87; 95% CI, 1.55-5.34, P < 0.001) and thyroid cancer (SIR 3.99; 95% CI, 2.32-6.87, P < 0.001). The exclusion of 11 cancers occurring before diagnosis of acromegaly (all in women) did not change remarkably the study outcome. In multivariate analysis, the factors significantly associated with an increased risk of malignancy were age and family history of cancer, with a non-significant trend for the estimated duration of acromegaly before diagnosis. In conclusion, we found evidence that acromegaly in Italy is associated with a moderate increase in cancer risk
The âDiabetes Comorbidomeâ: A Different Way for Health Professionals to Approach the Comorbidity Burden of Diabetes
(1) Background: The disease burden related to diabetes is increasing greatly, particularly in older subjects. A more comprehensive approach towards the assessment and management of diabetesâ comorbidities is necessary. The aim of this study was to implement our previous data identifying and representing the prevalence of the comorbidities, their association with mortality, and the strength of their relationship in hospitalized elderly patients with diabetes, developing, at the same time, a new graphic representation model of the comorbidome called âDiabetes Comorbidomeâ. (2) Methods: Data were collected from the RePoSi register. Comorbidities, socio-demographic data, severity and comorbidity indexes (Cumulative Illness rating Scale CIRS-SI and CIRS-CI), and functional status (Barthel Index), were recorded. Mortality rates were assessed in hospital and 3 and 12 months after discharge. (3) Results: Of the 4714 hospitalized elderly patients, 1378 had diabetes. The comorbidities distribution showed that arterial hypertension (57.1%), ischemic heart disease (31.4%), chronic renal failure (28.8%), atrial fibrillation (25.6%), and COPD (22.7%), were the more frequent in subjects with diabetes. The graphic comorbidome showed that the strongest predictors of death at in hospital and at the 3-month follow-up were dementia and cancer. At the 1-year follow-up, cancer was the first comorbidity independently associated with mortality. (4) Conclusions: The âDiabetes Comorbidomeâ represents the perfect instrument for determining the prevalence of comorbidities and the strength of their relationship with risk of death, as well as the need for an effective treatment for improving clinical outcomes
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