A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation.

Cohen syndrome (CS) is a rare autosomal recessive disorder. CS includes a range of clinical symptoms including retinal dystrophy and myopia. The new VPS13B mutation could cause CS-induced neutropenia and petechiae in patients with CS.

Locally private frequency estimation of physical symptoms for infectious disease analysis in Internet of Medical Things.

Frequency estimation of physical symptoms for peoples is the most direct way to analyze and predict infectious diseases. In Internet of medical Things (IoMT), it is efficient and convenient for users to report their physical symptoms to hospitals or disease prevention departments by various mobile devices. Unfortunately, it usually brings leakage risk of these symptoms since data receivers may be untrusted. As a strong metric for health privacy, local differential privacy (LDP) requires that users should perturb their symptoms to prevent the risk. However, the widely-used data structure called sketch for frequency estimation does not satisfy the specified requirement. In this paper, we firstly define the problem of frequency estimation of physical symptoms under LDP. Then, we propose four different protocols, i.e., CMS-LDP, FCS-LDP, CS-LDP and FAS-LDP to solve the above problem. Next, we demonstrate that the designed protocols satisfy LDP and unbiased estimation. We also present two approaches to implement the key component (i.e., universal hash functions) of protocols. Finally, we conduct experiments to evaluate four protocols on two real-world datasets, representing two different distributions of physical symptoms. The results show that CMS-LDP and CS-LDP have relatively optimal utility for frequency estimation of physical symptoms in IoMT.

Prolactin receptor expression as a novel prognostic biomarker for triple negative breast cancer patients.

Prolactin receptor (PRLR) is a novel emerging prognostic biomarker in different cancers, especially in breast cancer. However, there is limited information about the association of PRLR expression and triple-negative breast cancers (TNBC) prognosis. In this study, 80 TNBC patients were evaluated for PRLR expression by immunohistochemistry. The correlation of PRLR expression with clinicopathological features, patient recurrence, and survival was investigated. PRLR expression was considered positive if >10% of tumor cells were stained. The Fisher's exact test was used to analyze PRLR expression relation with the clinicopathological parameters. Survival distribution was estimated by the Kaplan-Meier method. Positive immunoreactivity for PRLR was observed in 50 out of 80 (62%) specimens. Although expression of PRLR was associated with TNBC patients' stage, no-correlation was observed between its expression and tumor size, grade, lymph node status, and Ki-67 expression. In addition, patients with positive expression of PRLR exhibited lower recurrence (P = 0.0027) and higher overall survival (P = 0.0285) in comparison with negative expression group. In multivariate analyses, positive expression of PRLR was an independent prognostic marker for lower recurrence (P < 0.001) and higher overall survival (P < 0.001). Therefore, PRLR plays a crucial role in TNBC and has to be considered as an independent prognostic biomarker for TNBC patients.

The impact of generic form of Clopidogrel on cardiovascular events in patients with coronary artery stent: results of the OPCES study.

BACKGROUND: To compare the early and late cardiovascular events as well as side effects of Osvix, a generic form of Clopidogrel versus Plavix regimens in patients with chronic stable angina, undergoing bare metal stent (BMS) or drug eluting stent (DES) placement, this study was carried out. METHODS: A total of 442 patients with chronic stable angina who were scheduled for elective percutaneous coronary intervention (PCI) were included in a randomized, double blind, multi-centric clinical trial being performed in 6 distinct university hospitals in 5 cities of Iran from March 2007 to November 2009. Baseline, demographic and history of risk factors were recorded using the patients' medical charts. Stenting procedure was performed via transfemoral approach using low osmolar contrast agents. Patients underwent BMS or DES placements based on the physician selection and were randomly assigned to Osvix or Plavix groups. Patients were followed by telephone in 0 and 6 months intervals regarding the major adverse cardiovascular events (MACE) including death, myocardial infarction, in-stent thrombosis, stroke, target lesion revascularization, and target vascular revascularization. Angina episodes, bleeding, liver enzymes, neutrophils and platelets count were also assessed in these intervals. RESULTS: There was not any significant difference between these two groups regarding the baseline characteristics. In the DES group, the 6-month mortality rate and the incidence of MACE in Osvix and Plavix groups were 0.9% and 1.9% (p = 0.61) and 1.8% and 4.9% (p = 0.26), respectively. During the follow up period after DES or BMS placement, there wasn't any significant difference regarding neutrophil and platelet counts or liver enzymes between study groups. CONCLUSIONS: Using Osvix and Plavix are followed by similar major cardiovascular events and side-effect profile in patients undergoing PCI.