A family presenting with multiple endocrine neoplasia type 2B: A case report

<p>Abstract</p> <p>Introduction</p> <p>Multiple endocrine neoplasia 2B, a rare autosomal dominant syndrome, is characterized by early onset of medullary thyroid carcinoma, pheochromocytoma, marfanoid habitus and mucosal neuromas of the tongue, lips, inner cheeks and inner eyelids. Gangliomatosis of the gastrointestinal tract and its complications may also occur in patients with this disease.</p> <p>Case presentation</p> <p>We present the case of a 16-year-old Persian man diagnosed as having a non-invasive form of multiple endocrine neoplasia 2B (medullary thyroid cancer, mucosal neuroma of the tongue, lips and inner eyelids). Our patient, who had a positive family history of medullary thyroid cancer, was of normal height with no signs of marfanoid habitus.</p> <p>Conclusions</p> <p>Ophthalmological and oral manifestations of multiple endocrine neoplasia 2B, as in the case of our patient, are rare presentations of the disease; unfortunately in the case of our patient his condition had not been noted and acted upon until he presented to our department. The diagnosis in our patient's case was made only after his mother presented with the same condition. As a result, we emphasize that physicians should pay more attention to the oral and ocular signs of multiple endocrine neoplasia 2B in order to diagnose this fatal syndrome at an earlier phase.</p

Uniform Approximation Is More Appropriate for Wilcoxon Rank-Sum Test in Gene Set Analysis

Gene set analysis is widely used to facilitate biological interpretations in the analyses of differential expression from high throughput profiling data. Wilcoxon Rank-Sum (WRS) test is one of the commonly used methods in gene set enrichment analysis. It compares the ranks of genes in a gene set against those of genes outside the gene set. This method is easy to implement and it eliminates the dichotomization of genes into significant and non-significant in a competitive hypothesis testing. Due to the large number of genes being examined, it is impractical to calculate the exact null distribution for the WRS test. Therefore, the normal distribution is commonly used as an approximation. However, as we demonstrate in this paper, the normal approximation is problematic when a gene set with relative small number of genes is tested against the large number of genes in the complementary set. In this situation, a uniform approximation is substantially more powerful, more accurate, and less intensive in computation. We demonstrate the advantage of the uniform approximations in Gene Ontology (GO) term analysis using simulations and real data sets

A survey of relationship between anxiety, depression and duration of infertility

BACKGROUND: A cross sectional study was designed to survey the relationship between anxiety/depression and duration/cause of infertility, in Vali-e-Asr Reproductive Health Research Center, Tehran, Iran. METHODS: After obtaining their consents, 370 female patients with different infertility causes participated in, and data gathered by Beck Depression Inventory(BDI) and Cattle questionnaires for surveying anxiety and depression due to the duration of infertility. This was studied in relation to patients' age, educational level, socio-economic status and job (patients and their husbands). RESULTS: Age range was 17–45 years and duration and cause of infertility was 1–20 years. This survey showed that 151 women (40.8%) had depression and 321 women (86.8%) had anxiety. Depression had a significant relation with cause of infertility, duration of infertility, educational level, and job of women. Anxiety had a significant relationship with duration of infertility and educational level, but not with cause of infertility, or job. Findings showed that anxiety and depression were most common after 4–6 years of infertility and especially severe depression could be found in those who had infertility for 7–9 years. CONCLUSIONS: Adequate attention to these patients psychologically and treating them properly, is of great importance for their mental health and will improve quality of their lives

Colorimetric detection of Helicobacter pylori DNA using isothermal helicase-dependent amplification and gold nanoparticle probes

This study describes a nanodiagnostic method using thermophilic helicase-dependent isothermal amplification (tHDA) and gold nanoparticle probes for colorimetric detection of Helicobacter pylori DNA. The primers targeting ureC gene were used for the amplification of bacterial DNA by the isothermal tHDA reaction, resulting in the accumulation of DNA amplicons. The amplicons were hybridized with specific gold nanoparticle probes. The hybrids were colorimetrically detected by the assembly of gold nanoparticles. Using this method, we detected as little as 10 CFU mL-1 of H. pylori within less than 1 h. Results obtained from the gastric biopsy samples showed 92.5 and 95.4 of sensitivity and specificity, respectively, in comparison with culture results, and 100 and 98.8 of sensitivity and specificity, respectively, in comparison with those of the histologic studies. Owing to its ease of operation, this assay significantly reduces the time and cost needed for the molecular diagnosis of H. pylori and has the potential to facilitate early detection of this pathogen. © 2008 Elsevier Inc. All rights reserved

Finite element analysis of shot-peening effect on fretting fatigue parameters

Shot peening is widely used to improve the fretting fatigue strength of critical surfaces. Fretting fatigue occurs in contacting parts that are subjected to fluctuating loads and sliding movements at the same time. This paper presents a sequential finite element simulation to investigate the shot peening effects on normal stress, shear stress, bulk stress and slip amplitude, which are considered to be the controlling parameters of fretting damage. The results demonstrated that among the modifications related to shot peening, compressive residual stress has a dominant effect on the fretting parameters. (C) 2010 Elsevier Ltd. All rights reserved

Evaluation of sternal wound infection after median sternotomy using 99mTc-labeled Ubiquicidin 29-41

Aims- Previous studies have demonstrated that 99mTc-labeled Ubiquicidin 29-41 (99mTc-UBI) can be used for the detection of bacterial infections as an accurate method.1 This study was conducted to evaluate the clinical use of 99mTc-UBI for the evaluation of sternal wound infection (SWI) after cardiac surgery. Materials and Methods - Twenty-one patients with suspected SWI after median sternotomy were included. Qualitative and quantitative voxel-based analyses of 99mTc-UBI images were performed by two experienced nuclear physicians and the images were reported as negative, positive for superficial, or positive for deep SWI on the basis of the uptake patterns. SWI was defined according to the Centres for Disease Control and Classifications' guideline. Results- Among the cases, only one subject with a final diagnosis of non-infectious inflammation was reported as superficial SWI in 99mTc-UBI scintigraphy. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for distinguishing SWI from sterile inflammation were equal to 100, 83.3, 93.8, and 100. After implicating a threshold of 3.08 for the target-to-background ratio, the specificity and PPV reached 100. The sensitivity, specificity, positive, and negative predictive values for the detection of superficial and deep SWI were 100, 92.9, 87.5, and 100 and 100, 100, 100, and 100, respectively. There was also a high interobserver agreement with all the kappa values exceeding 0.8. Conclusions- The results of the present study suggest that 99mTc-UBI could be of great use as an accurate method for the evaluation of suspected postoperative SWI and could help in the selection of appropriate treatment strategies for these patients

Health status in the Islamic Republic of Iran, middle east and North Africa countries: Implications for global health

Background: The aim of this study was to evaluate the health status of the Iranians following the sustainable development goals� (SDGs) introduction and the recent health reform implementation in Iran and to compare with those of the Middle East and North Africa region (MENA) and global average. Methods: This comparative study used secondary data to investigate socio-demographic and health status indicators. The sources included census, population-based surveys and death registries. Global and regional health status indicators were obtained from international databases including WHO, the World Bank and the Institute for Health Metric and Evaluation (IHME). Results: Life expectancy and human development index improved following the reform implementation. Among causes of death, 74.6 were attributed to non-communicable diseases (NCDs). There was an increasing trend in risk factors for NCDs in Iran, while at the same time neonatal, infant and under-5 mortality rates reduced. Compared to the MENA, Iran has a lower maternal mortality ratio, neonatal, infant, and under-5 mortality rates, and a higher life expectancy. NCDs and road traffic injuries accounted for a larger portion of disability-adjusted life years in Iran compared to the MENA and worldwide. Conclusion: Actions against communicable diseases and road traffic injuries are required together with continued efforts to address NCDs. Although based on the results, Iran has relatively high rankings, there is a need to develop a roadmap to accelerate achieving global health goals and SDGs targets. © 2020, Iranian Journal of Public Health. All rights reserved