Erdheim-Chester disease as complex clinical presentation and diagnosis: A case report and concise review of literature.

RATIONALE: Erdheim-Chester disease (ECD) is a rare multisystemic disease characterized by the infiltration of multiple organs by foamy CD68 + CD1a-histiocytes. The genetic background consists of gain-of-function somatic mutations in the mitogen-activated protein kinase pathway. The purpose of the present paper is to make a contribution to the scientific literature on ECD by reporting our experience with a complex clinical case report, along with a concise review of the literature. We discussed the unusual clinical presentation, the complex diagnostic process and the comparison with other published cases. PATIENT CONCERNS: A 70-year-old man presented with arthralgia due to multiple bone areas of sclerosis, first diagnosed with metastases of a prostatic neoplasm. Sequential thorax-abdomen, femoral and homer contrast-enhanced computed tomography (CT) showed pericardial effusion, pulmonary fibrosis, and perirenal fibrous tissue as "hairy kidneys." He underwent. Three bone biopsies were unsuccessful to reach diagnosis. DIAGNOSES: A xanthelasma biopsy showed histopathological signs compatible with ECD; genetic analysis showed the mutation BRAFV600E. INTERVENTIONS: The patient underwent targeted therapy with vemurafenib (BRAF-inhibitor), discontinued 2 weeks later due to the onset of a diffuse erythematous papular rash on the trunk and limbs. OUTCOMES: At the 1-year follow-up, there was only progression of chronic kidney disease (CKD). LESSONS: The present case report describes how ECD diagnosis could represent a challenge for clinicians, owing to its heterogeneous clinical presentation. Early diagnosis followed by prompt therapy is essential for modifying the natural history of the disease.

Derivation and validation of a predictive mortality model of in-hospital patients with Acinetobacter baumannii nosocomial infection or colonization.

PURPOSE: Acinetobacter baumannii (Ab) is a Gram-negative opportunistic bacterium responsible for nosocomial infections or colonizations. It is considered one of the most alarming pathogens due to its multi-drug resistance and due to its mortality rate, ranging from 34 to 44,5% of hospitalized patients. The aim of the work is to create a predictive mortality model for hospitalized patient with Ab infection or colonization. METHODS: A cohort of 140 sequentially hospitalized patients were randomized into a training cohort (TC) (100 patients) and a validation cohort (VC) (40 patients). Statistical bivariate analysis was performed to identify variables discriminating surviving patients from deceased ones in the TC, considering both admission time (T0) and infection detection time (T1) parameters. A custom logistic regression model was created and compared with models obtained from the "status" variable alone (Ab colonization/infection), SAPS II, and APACHE II scores. ROC curves were built to identify the best cut-off for each model. RESULTS: Ab infection status, use of penicillin within 90 days prior to ward admission, acidosis, Glasgow Coma Scale, blood pressure, hemoglobin and use of NIV entered the logistic regression model. Our model was confirmed to have a better sensitivity (63%), specificity (85%) and accuracy (80%) than the other models. CONCLUSION: Our predictive mortality model demonstrated to be a reliable and feasible model to predict mortality in Ab infected/colonized hospitalized patients.

Statin-induced autoimmune myositis: a proposal of an "experience-based" diagnostic algorithm from the analysis of 69 patients.

Statin-induced autoimmune myositis (SIAM) represents a rare clinical entity that can be triggered by prolonged statin treatment. Its pathogenetic substrate consists of an autoimmune-mediated mechanism, evidenced by the detection of antibodies directed against the 3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR Ab), the target enzyme of statin therapies. To facilitate the diagnosis of nuanced SIAM clinical cases, the present study proposes an "experience-based" diagnostic algorithm for SIAM. We have analyzed the clinical data of 69 patients diagnosed with SIAM. Sixty-seven patients have been collected from the 55 available and complete case records regarding SIAM in the literature; the other 2 patients represent our direct clinical experience and their case records have been detailed. From the analysis of the clinical features of 69 patients, we have constructed the diagnostic algorithm, which starts from the recognition of suggestive symptoms of SIAM. Further steps provide for CK values dosage, musculoskeletal MR, EMG/ENG of upper-lower limbs and, Anti-HMGCR Ab testing and, where possible, the muscle biopsy. A global evaluation of the collected clinical features may suggest a more severe disease in female patients. Atorvastatin proved to be the most used hypolipidemic therapy.

Inflammatory bowel disease and infertility: analysis of literature and future perspectives.

BACKGROUND: inflammatory bowel diseases (IBD) are chronic disorders that affect the gastrointestinal tract but which also present extraintestinal manifestations. One of the problems related to IBD is the presence of both female and male infertility. AIM: determine the correlation between IBD and male and female infertility by analyzing the literature. MATERIAL AND METHODS: Studies carried out in the last twenty years have been selected through the pubmed search engine. Only studies were selected that in their conclusions showed a real correlation between IBD and infertility. RESULTS: the first cause of infertility in both sexes is related to the surgical interventions that patients have to face during the course of the disease, but there are also psychological causes or causes related to the use of drugs used for therapy. CONCLUSIONS: further studies are needed to understand what are the real mechanisms underlying infertility in subjects suffering from IBD.

Extracellular vesicles derived from gut microbiota in inflammatory bowel disease and colorectal cancer.

The human gut microbiome encompasses inter alia, the myriad bacterial species that create the optimal host-microorganism balance essential for normal metabolic and immune function. Various lines of evidence suggest that dysregulation of the microbiota-host interaction is linked to pathologies such as inflammatory bowel disease (IBD) and colorectal cancer (CRC). Extracellular vesicles (EVs), found in virtually all body fluids and produced by both eukaryotic cells and bacteria are involved in cell-cell communication and crosstalk mechanisms, such as the immune response, barrier function and intestinal flora. This review highlights advancements in knowledge of the functional role that EVs may have in IBD and CRC, and discusses the possible use of EVs derived from intestinal microbiota in therapeutic strategies for treating these conditions.

Postoperative outcomes, lymph node dissection and effects on costs among thoracotomy, video-assisted and robotic-assisted lobectomy for clinical stage I non-small cell lung cancer.

BACKGROUND: Thoracotomy, video-assisted thoracoscopic surgery (VATS) and robotic assisted thoracoscopic surgery (RATS)-lobectomy are widely accepted procedures for the surgical treatment of clinical (c)stage I non- small cell lung cancer (NSCLC). In the current literature which procedure gives more benefits is still debated. We present a comparison between these three procedures in term of advantages and postoperative outcomes. METHODS: A multicentric study about 259 lobectomies from 2013 to 2019: 128 patients underwent TL, 96 VATS and 35 RATS. Different variables were retrospectively analyzed among these three cohorts of patients with diagnosis of cStage I NSCLC. RESULTS: Rate of major complications comparable in VATS, RATS and TL; Advantages for RATS in minor complications (TL 34.4% vs. VATS 18.75% vs. RATS 8.57%. P=0.0015), postoperative days in Intensive Care Unit, days to chest tube removal, length of postoperative hospitalization (P<0.0001) and number of lymph nodes dissected (P=0.0257). Operating times are shorter in VATS than RATS (P<0.05). Pain (NRS Scale) is comparable. CONCLUSIONS: TL remains the conventional approach for stage II-IIIA(N2) NSCLC. RATS showed great advantages, but its higher operating time and costs, mostly, today don't justify its adoption as gold standard for the surgical treatment of cStage I NSCLC, instead of VATS.

CT-guided transthoracic needle biopsy: advantages in histopathological and molecular tests.

Aim: The present study aimed to demonstrate that computed tomography-guided transthoracic needle biopsy (TTNB) is a safe procedure that gives a more accurate pre-operative tissue diagnosis for peripheral lung nodules than transthoracic needle aspiration, obtaining suitable samples for molecular test in lung adenocarcinomas. Patients & methods: Between December 2016 and March 2018 at Thoracic Surgery Department of the University of Palermo - Policlinico Paolo Giaccone hospital, TTNB was performed in 42 patients with computed tomography-detected peripheral lung nodules >10 mm, using 16-18-Gauge Tru-Cut needles. Results: With TTNB, we have estimated an accuracy for tissue diagnosis of 97.6%. At the molecular test, EGFR overexpression and ALK mutation resulted positive for 12/23 patients with lung adenocarcinoma. Conclusion: TTNB has showed a low rate of complications and it is adoptable as standard diagnostic procedure for peripheral lung nodules.