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Background: Although a nodular thyroid disease is higher in patients with pituitary adenoma, concurrent thyroid cancer with pituitary tumor is uncommon. Case Presentation: We report a young woman with discovered papillary thyroid carcinoma after 1-year transsphenoidal surgery for Cushing’s disease. Thyroidectomy was done and patient is well after three years follow-up. Conclusion: We suggest the patient with functional pituitary adenoma be evaluated for thyroid tumor.

Here we report a single-center cohort of 6 patients (4 kidney only, and 2 simultaneous liver/kidney transplants) diagnosed with COVID-19 at a median of 1.9 years (range = 0.2-9.3 years) post transplant. Five (of 6) patients required inpatient admission, 2 patients (mortality = 33%) died. Among those with mortality, an increased concentration of inflammatory biomarkers (interleukin-6 and C-reactive protein) was noted with a lack of response to interleukin-6 blockade, remdesivir, and/or convalescent plasma. None of the kidney-only transplants (4/6; 67%) had elevation in plasma donor-derived cell-free DNA above the previously published cut-off of 1%, suggesting absence of significant allo-immune injury. Four (of 5) admitted patients had detectable SARS-CoV-2 (severe acute respiratory syndrome-coronavirus 2) in blood on samples obtained at/during hospitalization. Of the 4 discharged patients, 2 patients with undetectable virus on repeat nasopharyngeal swabs had seroconversion with positive SARS-CoV-2 IgG formation at 30 to 48 days post infection. One patient had prolonged shedding of virus on nasopharyngeal swab at 28 days post discharge despite lack of symptoms. In this preliminary report, we find that immunocompromised transplant patients had higher rates of RNAemia (67%) than reported in the general population (15%), seeming absence of allo-immune injury despite systemic inflammation, and formation of IgG overtime after recovery from infection.

Aim Regular physical activity can reduce the chance of developing type 2 diabetes in women with a history of gestational diabetes. The present study investigated the relationship between the constructs of the health action process approach and regular physical activity in women with a history of gestational diabetes. Design This was a cross‐sectional study. Methods A total of 150 women who had given birth 6–24 months prior to the study and had experienced gestational diabetes in their recent pregnancy were selected using multistage cluster sampling. Data were collected from December 2018 to May 2019 using a researcher‐made questionnaire including constructs of health action process approach. Results The common fit indices revealed that health action process approach had an acceptable fit to the observations (root mean square error of approximation = 0.054, Tucker–Lewis index = 0.95, comparative fit index = 0.955). The model's constructs predicted 48% of intention variance and 35% of physical activity variance. Action self‐efficacy and coping planning were the most important predictors of intention and behaviour, respectively.

Background: Hashimotochr('39')s thyroiditis can be present with a localized palpable nodule though presentation as a hyperfunction "nodule" is extremely rare. The first case of Hashimotochr('39')s thyroiditis and hot nodule was reported in 1971 by warner. Case Presentation: We reported a 26-year-old hypothyroid woman in Hashimotochr('39')s thyroiditis background with a hyperactive thyroid nodule in both 99mTc and I131scintigraphy. The nodule disappeared after eight months sufficient thyroid hormone replacement therapy. Conclusion: Toxic adenoma in hypothyroid patients can be resolved after the thyroxin replacement therapy.

BACKGROUND: Metabolic syndrome is defined by co-incidence of multiple metabolic disorders such as central obesity, high triglycerides, low HDL, hyperglycemia and high blood pressure, which increases the risk of cardiovascular disease and diabetes. The aim of this study was to estimate the prevalence of metabolic syndrome using Adult Treatment Panel III (ATP-III), International Diabetes Federation (IDF) and Iranian criteria in large-scaled population based cohort study and to determine the concordance between these criteria. METHODS: In the present study all information collected in Tabari cohort study(TCS) were utilized. These information were collected using a structural questionnaire and taking blood samples from all the participants. Blood pressure and anthropometric indices were measured for all participants by trained practitioners. Categorical variables were compared using chi-square test. In addition, the quantitative variables were compared between the two the groups using independent t-test. Kappa coefficient was estimated to show the agreement between the results of the three criteria. RESULTS: The prevalences of Metabolic syndrome were 41.10%(CI 95%:40.10–42.02), 44.60%(CI 95%:43.61–45.54), and 30.80% (CI 95%:29.89–31.69) based on ATPIII, international IDF and IDF Iranian criteria respectively. The Kappa agreement coefficients between Iranian IDF with ATPIII definition and international IDF were estimated as 61.80% and 71.20% in the total population respectively. CONCLUSION: Kappa coefficient showed that the Iranian IDF had a good agreement with International IDF and an intermediate agreement with the ATP-III. Considering more emphasis of international and Iranian IDF on waist circumference (WC), a better agreement between these two criteria is plausible. Regarding the high prevalence of abdominal obesity among Iranian population, applying these criteria to identify high risk persons might be helpful.

Background: Persistent thyroglossal duct leads to a fibrous cyst formation named thyroglossal cyst which is the most common form of congenital cyst and usually located in the midline neck below the hyoid bone. Rarely the thyroglossal cyst is associated with thyroid cancer. Although the Sistrunk procedure is often considered adequate, currently there is no clear consensus on the optimal management of thyroglossal duct cyst especially duct cyst carcinoma. In addition, there is no consensus about concurrent thyroidectomy in patients with thyroglossal cyst duct carcinoma. Case presentation: In this article, we present four patients with thyroglossal duct cyst and papillary thyroid cancer. Papillary thyroid cancer was located into the thyroglossal duct cyst (thyroglossal duct carcinoma) in two patients and two patients had thyroglossal duct cyst with thyroid carcinoma in thyroid tissue. Cervical lymph nodes were involved in one of the three patients. Sistrunk procedure and total thyroidectomy were performed for all. The thyroid lobes were not involved in patients with thyroid duct cyst carcinoma. Tumor or thyroglossal duct cyst recurrence did not occur in any of the patients in follow-up. Conclusion: The correlation between thyroglossal cyst and papillary thyroid carcinoma is high. In subjects with thyroglossal duct cyst, in addition to cyst assessment, thyroid gland and neck lymph nodes should be evaluated for malignancy.

Introduction Although the relationship between personality traits and sexual self‐efficacy has received theoretical and empirical support, there is little information on how personality affects the sexual self‐efficacy of diabetic women. This study aimed to investigate the mediating role of marital satisfaction and sexual function in the relationship between personality traits and sexual self‐efficacy in diabetic women. Methods Using a two‐stage sampling method, 410 reproductive‐aged Iranian women with type 2 diabetes were recruited in this descriptive‐analytical study. The participants completed self‐administered questionnaires, including the Vaziri Sexual Self‐Efficacy Questionnaire, the Female Sexual Function Index, ENRICH Marital Satisfaction Scale, and the Goldberg's Big Five Questionnaire. To analyze the data, structural equation modeling was employed in Amos software version 24. Results Results indicated an acceptable fit of the model to the data. Personality trait of openness to experience was associated with sexual self‐efficacy directly (β = .02, p = .030) and indirectly through the mediators of marital satisfaction (β = .06, p = .009) and sexual function (β = .18, p = .014). Furthermore, sexual function was associated with sexual self‐efficacy directly (β = .50, p = .025) and indirectly through the mediator of marital satisfaction (β = .36, p = .012). Conclusion Due to the mediating role of marital satisfaction and sexual function, this study has some practical implications for improving the sexual self‐efficacy of diabetic women with different personality traits., The relationship between personality traits and sexual self‐efficacy has received theoretical and empirical support, although there is little information on how personality affects the sexual self‐efficacy of diabetic women.

Background Appropriate service delivery, access to high quality of cares and optimal management of type 2 diabetes mellitus (T2DM) can decrease the risk of micro and macro vascular complications and mortality. Therefore, monitoring the quality of diabetes care, including keeping glycemic levels at an optimal level, is crucial. The aim of this study was to evaluate processes and outcome-related quality of care indicators, in T2DM using retrospective patient-level data from 2013 to 2017 in 15 Tertiary Diabetes Care Centers in Iran. Method A retrospective observational study was conducted among 1985 T2DM patients at public, semipublic and private diabetes centers. Annual tests for HbA1c, serum lipid (LDL), and screening for nephropathy were used to evaluate process-related indicators; and intermediate biomedical markers including HbA1c, blood pressure (BP), and LDL cholesterol, were used to assess outcome-related indicators. Results Data were extracted from 15 diabetes centers in five provinces in Iran. 62.7% of the patients were female, and the mean duration of diabetes in the patients was 14.7 years. Evaluation of process-related indicators showed that only 9% of patients took the HbA1c test. The percentage of the patients without annual low-density lipoprotein (LDL) test decreased from 13% in 2013 to 7% in 2017. The results of achieving to all indicators concurrently (ABC care) showed that less than 2% of the patients met the criteria of optimal process-related quality indicators. The mean percentage of the patients with HbA1c under 7%, blood pressure (BP) less than 130/80 mmHg, and LDL less than 100 mg/dl in the selected provinces were 32.4, 55, and 71 respectively. However, the average of total achievement in ABC goals was 14.2%. Conclusion Our findings showed that the management of T2DM in all selected provinces was far from the optimal control in both processes and outcome-related indicators and therefore needs serious consideration and improvement.

Introduction: Inflammatory state is considered as the pathogenesis of Gestational Diabetes Mellitus (GDM). Cytokines can cause insulin resistance and maybe the molecular basis of inflammation in Diabetes Mellitus (DM). Aim: To assess the level of Interleukin-10 (IL-10) in addition to a new anti-inflammatory cytokine marker Interleukin-35 (IL-35) in pregnant women with and without GDM. Materials and Methods: Participants in the study included 29 pregnant women with GDM (case group) and 29 healthy pregnant women (control group). Blood levels of IL-10, IL-35, Erythrocyte Sedimentation Rate (ESR) and C-Reactive Protein (CRP) were measured in all participants. Independent t-test and Chi-square test were used for data analysis. Quantitative data between three gestational subgroups (32 weeks) in each GDM and control group were compared by ANOVA test. The p-value 32 weeks) (p=0.04), but this was not true in the control group. There was no significant difference between the mean level of IL-35 at different gestational ages in both GDM and control groups. Conclusion: The present study showed the decreased level of anti-inflammatory marker IL-10 in the late stage of pregnancy in diabetic women especially during the last weeks of gestation. New inflammatory marker IL-35 was not statistically significant in GDM subjects.

Objectives Different factors are responsible for the silent epidemic of diabetes mellitus in developing and developed countries. This study aimed to determine the role of demographic factors, lipid profile, family history (the estimation of genetic association) and anthropometric factors on diabetes onset. Methods Data from the enrolment phase of the Tabari Cohort study was applied for this study and included 10,255 participants aged between 35-70 years. Anthropometric variables were measured by trained staff using standard tools. Blood specimens were collected for lipid profile and blood glucose measurements. Data analyses were performed using SPSS version 24, with univariate and multivariate logistic regression. Results The prevalence of diabetes mellitus was estimated to be 17.2% in the cohort population, 15.6% in men, and 18.3% in women. The adjusted odds ratios (95% confidence intervals) for age groups 40-49, 50-59 and over 60 were 2.58 (2.20-3.69), 5.80 (4.51-7.48) and 8.72 (6.67-11.39), respectively. In addition, the odds ratios (95% confidence intervals) for 2 (or more), and 1 affected family member were 4.12 (3.55-4.90) and 2.34 (2.07-2.65), respectively. Triglyceride concentrations more than 500, and abnormal high-density lipoprotein levels increased the odds of diabetes mellitus by 3.29- and 1.18-fold, respectively. Conclusion The current study showed that old age and a family history were strong predictors for diabetes mellitus.

Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder and characterized by hypercholesterolemia and early onset atherosclerosis. It may be misdiagnosed as rheumatoid arthritis (RA) because of swelling in joints and periarticular area can mimic arthritis or rheumatoid nodules. This report presents the case of a patient with FH manifested by seropositive RA. Treatment included lipid lowering therapy and management of RA. It is important to recognize the association between rheumatologic manifestations and familial hypercholesterolemia for diagnostic and therapeutic reasons.

Introduction Chromosomal abnormalities are frequent events in hematological malignancies. The degree of HLA compatibility between donor and recipient in hematopoietic stem cell transplantation is critical. Purpose of the study In this report, we describe an acute myeloid leukemia case with loss of heterozygosity (LOH) encompassing the entire HLA. Materials and methods HLA molecular typing was performed on peripheral blood (PB) and buccal swabs (BS). Chromosomal microarray analysis (CMA) was performed using a whole genome platform. Results Typing results on PB sample collected during blast crisis demonstrated homozygosity at the -A, -B, -C, -DR, and -DQ loci. A BS sample demonstrated heterozygosity at all loci. A subsequent PB sample drawn after count recovery confirmed heterozygosity. The CMA performed on PB samples collected during and after blast crisis revealed a large terminal region of copy-neutral LOH involving chromosome region 6p25.3p21.31, spanning approximately 35.9 Mb. The results of the CMA assay on sample collected after count recovery did not demonstrate LOH. Conclusions LOH at the HLA gene locus may significantly influence the donor search resulting in mistakenly choosing homozygous donors. We recommend confirming the HLA typing of recipients with hematological malignancies when homozygosity is detected at any locus by using BS samples, or alternatively from PB when remission is achieved.

The association between liver enzymes and metabolic syndrome (MetS) has been evaluated in several studies with different results. The purpose of this study is to determine the association between the serum levels of these liver enzymes and MetS in Tabari cohort population.In this case-control study, data collected from the enrolment phase of the Tabari cohort population have been used. MetS was defined based on IDF (international diabetes federation) standards. Then, 476 patients with MetS (case group) and 476 age-sex matched controls were selected randomly.Mean aspartate aminotransferase (AST) and alanine aminotransferase (ALT) levels were higher in case group than control group (20.59 vs. 19.99 respectively, p = 0.339 and 24.64 vs. 20.16 respectively, p 0.001). The chance of having MetS, high triglyceride, and fasting blood glucose (FBG) was significantly higher in people with ALT ≥ 40 (1.63, 2.35, and 2.02, respectively). The chance of having MetS in people with AST ≥ 40 was 1.45 times higher than that among those with normal AST level (p 0.05).This study showed that there is an association between liver enzymes and MetS as well as some of its components. Liver enzymes, especially ALT, can be used as an early indicator of MetS in the at risk population.

The application of nanotechnology in medicine and pharmaceutical purpose suggested a novel procedure in the nanotechnology terminology as nanomedicine. There is a wide range of applications for nanotechnology in medicine, such as the use of nanocarriers in drug delivery systems. Recently a remarkable attention to DNA has been made through its amazing functionality and its nature as a nanomaterial in biological systems. Since DNA is a biocompatible, the use of DNA as a nanomaterial in medicine has shown a great perspective of rational engineering of DNA nanostructures. According to new approaches in treatment of diseases in gene levels, gene therapy, using DNA as a nanomedicine possesses an important role in the medical sciences as the researchers published enormous papers and patents in the fields, for instance, the applications of DNA and DNA-based nanostructures as drug or gene nanocarriers, DNA-based diagnostics and DNA nanovasccines. Here, some examples of DNA-based nanomedicine in the patent frame were reviewed.

Introduction: Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), a new strain of RNA viruses causes coronavirus disease in human. Though some studies suggested different blood group types as risk factors for Coronavirus Disease 2019 (COVID-19) infection, the association between blood groups and the COVID-19 infection may not be the same in various societies with different genetic statuses. Also, no studies so far have investigated the relationship between COVID-19 severity and ABO blood groups in Iran and developing countries according to the World Health Organisation (WHO) criteria. Aim: To evaluate the association between blood types and the severity of COVID-19 infection. Materials and Methods: This cross-sectional study enrolled 171 patients infected with SARS-CoV-2 {49 severe (severe or critical) and 122 non severe (mild to moderate)}, who were admitted to hospitals of Mazandaran University of Medical Sciences, Sari, Iran from April 2020 to June 2020. To evaluate the distribution of the blood group, 171 COVID-19 patients were compared with the reported data of Iranian population blood groups. The severity of COVID-19 infection was determined based on WHO criteria including clinical symptoms, radiological findings, and signs of organ dysfunction. The associations between ABO blood groups and the severity of COVID-19, were evaluated using Pearson’s Chi-square. Results: The distribution of the blood group in 171 patients with COVID-19 was not different compared to the reported general Iranian population blood group (p-value=0.344). Evaluation of the association between ABO blood groups and the severity of COVID-19 showed that patients with blood group type B developed severe COVID-19 infection compared to other blood types who showed mild or moderate conditions (p-value=0.048). Mortality due to COVID-19 was not statistically different between the ABO blood group and Rh (p-value=0.96, p-value=0.27 respectively), but the frequency of patients with Rh-negative that needed intubation and mechanical ventilation was higher compared to Rh-positive patients (p-value=0.003). Conclusion: A positive correlation was found between blood type B and COVID-19 severity. Also, mechanical ventilation was significantly more in Rh-negative patients.

Background and aims: Women with a history of gestational diabetes mellitus are the main high-risk group for type 2 diabetes; however, a healthy nutrition style can reduce the risk of developing diabetes in this group. The present study aimed to determine the psycho-social factors that affect the adoption of a healthy nutrition style in women with a history of gestational diabetes. Materials and Methods: This cross-sectional study was conducted based on the Health Action Process Approach (HAPA) in the west of Mazandaran province, Iran in 2019. A total of 165 women with a history of gestational diabetes in a recent pregnancy were selected using the convenience sampling method. The required data were collected using a demographic characteristic form, a healthy nutrition style questionnaire, and a researcher-made questionnaire based on HAPA model constructs. Moreover, structural equation modeling was used for data analysis. Results: Based on the results, the data were fit to the model (Tucker–Lewis index=0.924, comparative fit index=0.928, root mean square error of approximation=0.045, χ2/degrees of freedom=1.332). The model constructs predicted 23% and 51% of intention variance and nutrition style variance, respectively. Action self-efficacy and risk perception were the most important predictors of intention. In addition, planning and recovery self-efficacy significantly predicted a healthy nutrition style. Conclusion: As the first step, using the HAPA for the prediction of the nutrition style of women with a history of gestational diabetes was confirmed. Therefore, this model can be used to design educational interventions to prevent diabetes.

Background: Diabetes mellitus (DM) is a chronic disease inducing short-term and long-term complications including sexual dysfunction (SD) which can consequently reduce patients’ quality of life. Given the limited literature on frequency of SD in men experiencing diabetes in northern Iran, the present study was conducted in the city of Sari in Mazandaran Province, with the aim of investigating SD in men with type II diabetes. Methods: Using a descriptive cross-sectional research design, a total number of 350 male patients suffering from type II diabetes referring to endocrinology clinics in the city of Sari in. The patients were requested to fill out the demographic questionnaire, depression, anxiety and stress scale-21 items (DASS-21) and the 15-question International Index of Erectile Function (IIEF). The data were analyzed using the IBM SPSS statistics software Results: The average period of time in which the patients were facing diabetes was 3.65±5.75 years. The IIEF mean score was equal to 16.98±43.79. Erectile dysfunction (ED) was also evident in 152 patients (62.2%). Moreover, increase in age had significantly decreased the IIEF scores (p

BACKGROUND: Osteocalcin (OC) is the most common noncollagenous protein in bone matrix, which is synthesized only in bone tissue and by osteoblasts. The potential role of osteocalcin on glucose and fat metabolism has been previously reported. The aim of this study was to compare the serum OC level in pregnant women with and without gestational diabetes mellitus (GDM).METHODS: In the present case-control study, all pregnant women who were referred to a obstetrics and gynecology clinic in Sari, Iran, and met the inclusion criteria underwent an overall screening with a 75-g glucose tolerance test (GTT) at week 24 to 28 of gestation. The study was conducted between September 2018 and February 2019. Based on criteria, the pregnant women with confirmed GDM were matched with pregnant women without GDM in terms of baseline characteristics such as chronological age and BMI. The serum OC levels were also measured if vitamin D and calcium levels were normal. All data were analyzed using SPSS 21.RESULTS: The two groups with and without GDM had no significant difference in terms of age, BMI and OC level. There was no significant correlation between age and BMI with OC level in healthy pregnant women, respectively (P=0.49 and P=0.58). The correlation between BMI and age with OC level in GTT-positive pregnant women was 0.05 and -0.172, respectively, which was not significant (P=0.77 and P=0.36).CONCLUSION: According to the results of this study, there is no significant difference of serum OC levels in pregnant women with GDM compared to healthy pregnancy. Given that the levels of serum insulin or insulin resistance have not been assessed, these indices are recommended to be evaluated in future studies.

Background Socioeconomic inequality in mental health in Iran is poorly understood. This study aimed to assess socioeconomic inequality in poor mental health among Iranian adults. Methods The study used the baseline data of PERSIAN cohort study including 131,813 participants from 17 geographically distinct areas of Iran. The Erreygers Concentration index (E) was used to quantify the socioeconomic inequalities in poor mental health. Moreover, we decomposed the E to identify factors contributing to the observed socioeconomic inequality in poor mental health in Iran. Results The estimated E for poor mental health was − 0.012 (95% CI: − 0.0144, − 0.0089), indicating slightly higher concentration of mental health problem among socioeconomically disadvantaged adults in Iran. Socioeconomic inequality in poor mental health was mainly explained by gender (19.93%) and age (12.70%). Region, SES itself, and physical activity were other important factors that contributed to the concentration of poor mental health among adults with low socioeconomic status. Conclusion There exists nearly equitable distribution in poor mental health among Iranian adults, but with important variations by gender, SES, and geography. These results suggested that interventional programs in Iran should focus on should focus more on socioeconomically disadvantaged people as a whole, with particular attention to the needs of women and those living in more socially disadvantaged regions.

Background: Fasting has certain effects on metabolic and anthropometric parameters in diabetic patients. It is, therefore, necessary for patients to receive proper education related to their physical activities, eating habits, blood glucose monitoring, and medications. The aim of this study was to investigate the effects of Ramadan fasting on metabolic and anthropometric indices in type ΙΙ diabetic patients.Methods: This prospective observational study was performed during Ramadan 2018. The study population consisted of diabetic patients who desired to fast and received information on physical activity, eating habits, blood glucose monitoring, and taking their medications before Ramadan. Fasting blood sugar (FBS), blood sugar 2-hour postprandial (BS2hpp), glycosylated hemoglobin (HbA1C), and the lipids profile were assessed before and after Ramadan month. FBS and BS2hpp were also evaluated on the fifteenth day of Ramadan. The significance level for data analysis was considered p

Purpose: The present study aimed to investigate the role of librarians, information services and information literacy skills of graduate students of Ferdowsi University of Mashhad (FUM) in decreasing their information seeking anxiety. Methodology: This was an applied study conducted through survey method. The statistical population included 12260 graduate students consisting of 8100 master’s students and 4160 doctoral students. Of these, 236 students were selected by non-proportional stratified random sampling method. Data were gathered using questionnaires and were analyzed through descriptive and inferential statistics using SPSS software. Results: The students’ information seeking anxiety level was moderate. In addition, students' information literacy status was lower than average. On the other hand, students' use of information services was moderate. There was a significant relationship between their information seeking anxiety and information literacy. The findings showed that the role of librarians in decreasing the information seeking anxiety of graduate students was at moderate level. Also, participation in related workshops did not have any effect on students’ information seeking anxiety. There was also a significant positive correlation between the students' score on librarians’ communication skills and their level of information anxiety. There was a significant positive correlation between the use of information services and the information seeking anxiety of graduate students. The findings also showed that there was no significant difference between the mean scores of students' information seeking anxiety and their gender and academic field, but their educational level. In addition, there was no significant difference between the mean scores of the students’ information literacy skills and their gender, academic field and educational level. Conclusion: Awareness of the various factors that can affect the process of people’s informing seeking to the point where they are anxious is necessary. The results of this study, with emphasis on the role of librarians, the students’ use of information services and information literacy skills can be addressed by librarians and university authorities in order to recognize the effective factors and to take the needed steps for removing them.

It is widely assumed that Gitelman syndrome is a rare genetic disorder with such electrolyte imbalance as hypokalemia and hypomagnesaemia. The impact of hypothyroidism on Gitelman syndrome and its management is not clear. In this case study, a hypothyroid young woman referred to our endocrine clinic for muscle cramp after the hypothyroidism management. Based on Laboratory and clinical findings, the woman was diagnosed to have been suffering from Gitelman syndrome and the treatment with magnesium, potassium and oral Spironolactone began immediately. After two years of treatment, the woman experienced a successful planned pregnancy.

Recent advances in sequencing technologies have enabled us to scrutinize the versatile underlying mechanisms of cancer more precisely. However, adopting these new sophisticated technologies is challenging for clinical labs as it involves complex workflows, and requires validation for diagnostic purposes. The aim of this work is towards the analytical validation of a next generation sequencing (NGS) panel for cancer hotspot mutation analysis. Characterized formalin-fixed paraffin-embedded (FFPE) samples including biopsy specimens and cell-lines were examined by NGS methods utilizing the Ion Torrent™ Oncomine™ Focus DNA Assay and the PGM™ platform. Important parameters for somatic mutations including the threshold for differentiation of a positive and a negative result, coverage, sensitivity, specificity, and limit of detection (LoD) were analyzed. Variant calls with coverage of

Introduction: Lujan-Fryns syndrome (LFS) is an X-linked disorder characterized by varying degrees of symptoms, including mental retardation, Marfanoid habitus, facial deformities, hyper nasal speech, and psychopathology and related behavioral abnormalities. The prevalence and full spectrum of LFS’s clinical symptoms remain unknown, but the disease is reportedly caused by at least one mutation in the mediator complex subunit 12 (MED12) gene. Case Presentation: This study reports the case of an 18-year-old male with moderate mental disability, a height exceeding the 97th percentile, marfanoid characteristics, obvious craniofacial appearance, and psychiatric and behavioral disorders. Adults with LFS are usually tall, but their heights still fall within the normal range. Conclusions: The higher-than-normal mean height of the young man and psychosis led us to conclude that patients with LFS may be those taller than the normal range. The results provided insights into clinical and therapeutic remedies and highlighted the need to carefully examine the psychological and neuropsychological symptoms of LFS.

Background The object of this study was to evaluate the quality of care indicators (process- and outcome-related) in patients with type 2 diabetes using patient-level data during the last 5 years in Iran, in private and public diabetes centers in five provinces (Tehran, Isfahan, Yazd, Mazandaran, and Kurdistan).Method Our study was a cross-sectional study carried out on patients with type 2 diabetes at 13 diabetes centers (private and public). Annual tests for hemoglobin A1C, serum lipid (LDL) and screening for nephropathy (urine protein or urine albumin quantitative test) were used to evaluate process-related and hemoglobin A1C, blood pressure and lipids levels were used to assess outcome-related outcomes.Findings Among 1976 patients, 54% were women with an average of 15 years of diabetes duration and approximately 83% of patients were obese or overweight. About 9% of patients had a hemoglobin A1C test every three months. The values obtained were favorable for controlling lipid profile but less than standard for screening for nephropathy and only about 30% of patients were within the optimal range for simultaneous control of process-related indicators. Findings for outcome- related indicators show that the achievement of blood glucose, blood pressure, and low-density lipoprotein targets were 31, 49 and 70%, respectively and concurrent achievement was 13.8% in the last year.Conclusion The performance of the health system has much room for improvement and diabetes control programs have not been favorable in any of the provinces studied and have not led to optimal control.

BACKGROUND: Cortisol is one of the important enzymes of saliva. Control of this hormone is an effective way to adjust the glucose level in diabetic patients. AIM: The aim of this research is to compare the salivary cortisol level in type 2 diabetic patients and pre-diabetics with healthy people. METHODS: In this case-control study (2018), the unstimulated salivary samples were collected from 44 patients with type 2 diabetes, 44 pre-diabetic people (case group), and 44 healthy subjects (control group), matched for age and gender. The samples were transferred to the laboratory, and salivary cortisol level was measured using ELISA. Data were analysed using SPSS 22 and Chi 2 tests. RESULTS: The mean salivary cortisol level in type 2 diabetic patients was 3.14 ± 1.17, in pre-diabetic cases was 1.83 ± 0.68, and in healthy controls was 0.86 ± 0.43 (P < 0.001). The mean DMFT in type 2 diabetic patients was 19.6 ± 6.5, in the pre-diabetic group was 13.43 ± 4.5, and in healthy controls was 9.38 ± 3.72 (P < 0.001). CONCLUSION: With regards to the results, salivary cortisol level in type 2 diabetic patients is more than pre-diabetic people, and in pre-diabetic people is more than healthy people. Also, there was a significant relation between salivary cortisol level and DMFT index.

Oxidant-antioxidant imbalance is involved in the etiology of different diseases, including cardiovascular diseases (CVDs), liver disorders, kidney diseases, cancers and diabetes mellitus. Antioxidant enzymes play a key role in striking an oxidant-antioxidant balance. Moreover, paraoxonase 1 (PON1) is an antioxidant enzyme that binds with high-density lipoprotein (HDL) in the circulation, and antioxidant and antiaterogenic properties of this lipoprotein are significantly associated with PON1. Research suggests PON1 contributes to the pathogenesis of certain human diseases such as type 2 diabetes (T2D). The association between PON1 and T2D appear to be reciprocal so that the disease significantly decreases PON1 levels and in turn, the genetics of PON1 may have a role the risk of susceptibility to T2D. Several factors that reduce the activity and concentration of PON1 in patients with T2D include increased glycation and loss-of-function polymorphisms. The genotypic and phenotypic evaluations of PON1 are therefore crucial for assessing the risk of cardiovascular complications in these patients, and strategies for increasing or restoring PON1 levels are useful for reducing or preventing their cardiovascular complications as their main cause of mortality. The present review aimed at discussing and emphasizing the key role of PON1 in T2D as a silent and dangerous disease.

Sexual dysfunction is known as one of the chronic complications of Type 2 diabetes, having its own negative effects on marital relationships as well as quality of life. Thus, the main objective of the present study is to review nonpharmacological interventions to promote sexual function in women affected with Type 2 diabetes. This review was conducted on the studies published within early 1990–2019. The search was performed using the available databases including Scopus, Science Direct, PubMed, Google Scholar, Magiran, Barakat, and SID. The keywords used include Diabetes, Lifestyle, and Sexual function. A total of 675 articles were obtained based on the inclusion criteria; however, eight articles were found to be completely relevant to the topic of interest. The main results were divided into two main categories: Category I: lifestyle modifications (two articles) and Category II: training/counseling intervention programs (six articles). Moreover, the research instrument utilized in all studies was the Female Sexual Function Index. The results of the selected articles further revealed that lifestyle modifications and training/counseling intervention programs were effective in promoting sexual function among women with Type 2 diabetes. However, the retrieved documents were not adequate to reach a definitive conclusion. Therefore, further interventional studies using different types of counseling methods and lifestyle modifications are suggested to promote sexual function in women with Type 2 diabetes.

Conventional assessment of renal transplant rejection and injury through use of histology, C4d staining, and HLA antibody testing, has been the standard approach to transplant management. By many measures, these methods of conventional assessment may be considered flawed, particularly with the subjective nature of histologic diagnoses. The Alberta Transplant Applied Genomics Center has developed the Molecular Microscope diagnostic system, which uses microarrays to measure gene expression. These data are analyzed using classifiers (weighted equations) that compare the tested biopsy to a proprietary reference set of biopsies to provide objective measures of the status of the renal transplant.

Background & Aim: Tuberculosis is the major cause of morbidity and mortality among HIV patients. Thus, early diagnosis of Tuberculosis among these patients is important. The purpose of the present study was to determine the Sensitivity, Specificity, PPV and NPV for tools of diagnosing TB among HIV patients referred to behavioral disorder counseling center of Shiraz city. Methods & Materials: In this cross sectional study, 250 HIV+ patients in Shiraz were evaluated. For each patient, three sputum smears and a Chest X-ray and PPD was taken. Sensitivity, specificity, and positive and negative predictive values were determined based on the results of sputum cultures as a gold standard. Results: Among 250 HIV+ individuals who entered the study, 8 (3.2 %) were diagnosed with tuberculosis. The sensitivity, specificity, PPV and NPV for chest x-ray were 62.5%, 96%, 38% and 98.7%, respectively. Also they were 62.5%, 98.7%, 62.5% and 98.7% for AFB 1, and 25%, 99.5%, 66% and 97.5% for AFB 2. Finally, these factors were 99.5%, 99.5%, 66% and 97.5% for AFB 3. Conclusion: The prevalence of TB among HIV+ patients referring to the behavioral disease counseling center in Shiraz was lower than in other endemic areas of developing countries. The screening tools for diagnosis of tuberculosis included the chest x-ray and Acid Fast Bacilli and PPD test in order to find out the important role of detecting TB disease among HIV-infected people.

Background We aimed to evaluate the effects of a hydroalcoholic extract of Juglans regia L. leaves on blood glucose level and cardiovascular risk factors in type 2 diabetic patients. Methods In this randomized, double-blind, placebo-controlled, parallel-group (2 arms) clinical trial, 50 diabetic patients were divided into two groups: treatment group (receive the capsules containing 100 mg J. regia leaf extract) and control group (receive the capsules containing placebo, microcrystallin cellulose). Baseline participant data were matched between the two arms of the study. We administered the prepared capsules to the patients twice daily for 8 weeks. Blood glucose level, glycosylated hemoglobin (HbA1c) level, body weight, body mass index, blood pressure, lipid profile, serum insulin, and insulin resistance were compared between the two groups before and after the intervention. P

Introduction: Diabetes Mellitus (DM) is a chronic multisystem disease characterised by persistent hyperglycaemia that lead to a wide range of complications, including Musculoskeletal Disorders (MSD). Quality Of Life (QOL) in chronic diseases such as DM has an important role in mental, physical and social performance of patients and plays an important role in health care. Aim: To study the impact of upper limbs MSD on QOL in diabetic patients. Materials and Methods: A cross-sectional study was conducted at Department of Internal Medicine in Imam Khomeini Hospital, Sari, North of Iran from March 2013 to April 2016, on 50 patients with type 2 DM suffering from upper limb MSD and 50 age and sex matched diabetic patients with no upper limb problems. QOL was evaluated using the Mental and Physical Components Scores (MCS and PCS) of the Short Form-36 and Diabetes Quality of Life (DQOL). In patients with MSD, Arthritis Impact Measurement Scales 2-Short Form (AIMS2-SF) was completed. Comparisons between groups were undertaken using Chisquare test for categorical data and t-tests for continuous data. Statistical significance was taken at p≤0.05. Results: Patients with MSD showed significantly lower mean of PCS (36.05±6.8 vs. 41.52±10.4, p=0.003), and higher DQOL (2.76±0.41 vs. 2.45±0.6, p=0.006), but MCS scores were not significantly different. Conclusion: Upper limb MSDs could reduce quality of life in diabetic patients. Physicians are required to be aware of these complications and manage them effectively.

Background: Levothyroxine is commonly used in the treatment of patients with hypothyroidism. Levothyroxine is often administered in the morning, on an empty stomach, to increase its absorption. However, many patients have trouble for taking levothyroxine in the morning. The aim of this study was to evaluate the effect of changing administration time of levothyroxine from before breakfast to before dinner on serum levels of TSH and T4. Methods: Fifty hypothyroidism patients aged 18-75 years old were included in the study and randomly divided into two groups. Each group received two tablets per day blindly (one levothyroxine tablet and one placebo tablet) before breakfast and before dinner. After two months, the administration time for the tablets was changed for each group, and the new schedule was continued for a further two-month period. The serum TSH and T4 levels were measured before and after treatment in each group. Results: Changing the levothyroxine administration time, resulted in 1.47±0.51 µIU/mL increase in TSH level (P=0.001) and 0.35±1.05µg/dL decrease in T4 level (P=0.3). Conclusion: Changing the levothyroxine administration time from before breakfast to before dinner minimally reduced the therapeutic efficacy of levothyroxine.

In this study, the aim was to determine whether adding vitamin D to the standard therapeutic regimen of schizophrenic male patients with inadequate vitamin D status could improve some aspects of the symptom burden or not. This study was an open parallel label randomized clinical trial. Eighty patients with chronic stable schizophrenia with residual symptoms and Vitamin D deficiency were recruited randomly and then received either 600000 IU Vitamin D injection once along with their antipsychotic regimen or with their antipsychotic regimen only. Serum vitamin D was measured twice: first at the baseline and again on the fourth month. Positive and Negative Syndrome Scale (PANSS) was assessed at the baseline and on the fourth month. During the study, the vitamin D serum changes in vitamin group and control group were 22.1 ± 19.9(95%CI = 15.9-28.8) and 0.2 ± 1.7(95%CI = 0.2-0.8) (ng/mL) (p

Extended molecular characterization of HLA genes in the IHWG reference B-lymphoblastoid cell lines (B-LCLs) was one of the major goals for the 17(th) International HLA and Immunogenetics Workshop (IHIW). Although reference B-LCLs have been examined extensively in previous workshops complete high-resolution typing was not completed for all the classical class I and class II HLA genes. To address this, we conducted a single-blind study where select panels of B-LCL genomic DNA samples were distributed to multiple laboratories for HLA genotyping by next-generation sequencing methods. Identical cell panels comprised of 24 and 346 samples were distributed and typed by at least four laboratories in order to derive accurate consensus HLA genotypes. Overall concordance rates calculated at both 2- and 4-field allele-level resolutions ranged from 90.4% to 100%. Concordance for the class I genes ranged from 91.7 to 100%, whereas concordance for class II genes was variable; the lowest observed at HLA-DRB3 (84.2%). At the maximum allele-resolution 78 B-LCLs were defined as homozygous for all 11 loci. We identified 11 novel exon polymorphisms in the entire cell panel. A comparison of the B-LCLs NGS HLA genotypes with the HLA genotypes catalogued in the IPD-IMGT/HLA Database Cell Repository, revealed an overall allele match at 68.4%. Typing discrepancies between the two datasets were mostly due to the lower-resolution historical typing methods resulting in incomplete HLA genotypes for some samples listed in the IPD-IMGT/HLA Database Cell Repository. Our approach of multiple-laboratory NGS HLA typing of the B-LCLs has provided accurate genotyping data. The data generated by the tremendous collaborative efforts of the 17(th) IHIW participants is useful for updating the current cell and sequence databases and will be a valuable resource for future studies.

Background Impaired fasting glucose (IFG), and impaired glucose tolerance (IGT) are two prediabetes conditions which have some correlation with macrovascular disorders. The risk of microvascular complications in these groups is not clear. Objectives The prevalence of albuminuria in subjects with IFG and IGT was evaluated in the present study. Patients and methods In this study three groups of subjects were entered (45 subjects in each group): IFG, IGT, and normal glucose tolerance as control. The urine albumin-creatinine ratio was studied in morning spot urine samples to detect microalbuminuria. The subjects were followed up for two years, and blood sugar and urine albumin and glycosylated hemoglobin (HbA1C) were measured every 6 months. Results The prevalence rate of microalbuminuria was 15.5% in the prediabetic groups, while no one had microalbuminuria in the control group (P = 0.005). The prevalence of microalbuminuria in patients with IFG or IGT was not significantly different (17.8% vs. 13.3%) (P = 0.4). Fourteen subjects (4 in IFG group and 10 in IGT group) developed diabetes mellitus within a 2-year follow-up period (P = 0.1). Thirty six percent of subjects with albuminuria, and twelve percent of subjects without albuminuria progressed to diabetes mellitus during a 2-year follow-up (P = 0.02, odd ratio = 4.1; CI95%, 1.13-15.1). Conclusions The risk of microalbuminuria in prediabetic subjects is high, and probably prediabetic subjects are at higher risk of progression to diabetes mellitus. We suggest periodically evaluation of albuminuria in prediabetic patients after the diagnosis.

It is widely assumed that Gitelman syndrome is a rare genetic disorder with such electrolyte imbalance as hypokalemia and hypomagnesaemia. The impact of hypothyroidism on Gitelman syndrome and its management is not clear. In this case study, a hypothyroid young woman referred to our endocrine clinic for muscle cramp after the hypothyroidism management. Based on Laboratory and clinical findings, the woman was diagnosed to have been suffering from Gitelman syndrome and the treatment with magnesium, potassium and oral Spironolactone began immediately. After two years of treatment, the woman experienced a successful planned pregnancy.

Background: Cabergoline is a long-acting agonist of dopamine, which has a high affinity to dopamine receptors (type 2). Treatment using a dopaminergic agonist reduces hypothalamic stimulation that increases during liver gluconeogenesis, lipids synthesis, and insulin resistance. Our aim was to evaluate the effects of cabergoline on blood glucose levels in patients with type 2 diabetes mellitus (DM). Methods: This study was a double-blind, controlled clinical trial in patients with type 2 DM. The patients received treatments of a placebo (control group; n = 20) or cabergoline 0.5 mg (cabergoline group; n = 20) using the sequential method, once per week for 3 months, while using previously prescribed glucose-lowering drugs. All tests, such as levels of fasting blood glucose, 2-hour post-prandial glucose, complete lipid profile, prolactin, alanine amino transferase, aspartate amino transferase, creatinine, blood urea nitrogen, and serum insulin, and homeostasis model assessment insulin resistance were measured at baseline and at 3-month follow-up. Results: The fasting blood sugar levels were significantly different between placebo and cabergoline groups after 3 months of treatment (P = 0.004). The prolactin levels were significantly different from beginning of the treatment to 6 months later (P = 0.001). In the cabergoline group, there was a significant decrease in glycosylated hemoglobin (HbA1C) levels after 3 months (P = 0.003). Overall, 65%and 45% patients in the cabergoline and control groups, respectively, responded to treatment (HbA1C

A renal transplant patient sample was submitted in order to characterize an unresolved HLA-DPB1 allele. Sanger sequence-based typing (SBT) resulted in DPB1*04:02:01 and a number of equally possible candidates for the second allele, each with a single nucleotide mismatch. Removing all exons except exon 2 from analysis resulted in a perfect match with homozygous DPB1*04:02:01G. However, several heterozygous positions leading to non-synonymous mutations were present in the excluded exons, contradicting this apparent homozygosity. One next-generation sequencing (NGS) platform then typed the sample as DPB1*04:02:01 for the first allele and various ambiguous alleles for the second. However, this was due to low coverage in a 19-nucleotide region of exon 2 rather than a mismatch. The low coverage pattern was replicated on a repeat run. DPB1*414:01 with one mismatch in exon 2 was called as the second allele when the minimum read depth was lowered. Interestingly, none of the possible second alleles were part of DPB1*04:02:01G. Upon testing on a second NGS platform, DPB1*04:02:01, DPB1*463:01:01 was obtained with novel mutations in exon 4 and introns. Comparing this result to the Sanger SBT data revealed the same heterozygous mismatch in exon 4. A third NGS platform verified this typing and associated mismatches. Therefore, if potential intronic mutations are ignored, the typing may be reported in two ways: as DPB1*04:02:01, DPB1*463:01 with a mutation in exon 4, or as DPB1*04:02:01, DPB1*414:01 with a mutation in exon 2. The first combination may lead to the assumption of homozygosity for treatment purposes, since DPB1*463:01 is part of DPB1*04:02:01G. This is currently the practice in the HLA field when exons 3 and 4 are not included in analysis. Ignoring heterozygous positions in exons that make up regions outside the antigen binding groove could lead to development of antibodies. This may be an important consideration in the renal transplant setting, depending on patient-donor matching and determination of immunogenicity.

(Received 23 Jul, 2008 ; Accepted 12 Nov, 2008)AbstractBackground and purpose: Pruritus is one of the common problems in hemodialysis patients with end stage renal disease. Approximately, 60% of these patients suffer from this condition. There are several causes for pruritus, thus, various treatments are applied in order to control it. The aim of this study was to evaluate the therapeutic effect of capsaicin on pruritus, compared with placebo, in hemodialysis patients.Materials and methods: This randomized double blind cross over clinical trial study, was performed on 34 hemodialysis patients with uremic pruritus in 1386. All patients were divided in two groups. One group received Caspian 0.03%, while the other, placebo for four weeks. Treatment was stopped for two weeks and continued as cross over technique. Pruritus scores were analyzed with Paired t-test and Repeated measurement ANOVA.Results: In this study, the difference between Mean of pruritus score before capsian treatment and in weeks following 1 to 4 was statistically significant (P=0.0001). In placebo group, the difference between pruritus score before treatment and in weeks 1 to 4 was statistically significant (P=0.0001). There was no significant difference before treatment in two groups, however, after each week, the difference was significant (P=0.0001). Repeated measurement test showed that reduction in pruritus severity in capsian group was more than placebo group, during treatment period (P=0.0001).Conclusion: Although our study indicated the appropriate effects of Capsian in pruritus, the placebo also has a good effect in controlling hemodialysis related pruritus. Our placebo had emollient property; therefore, we can apply it to control the pruritus in these patients.J Mazand Univ Med Sci 2009; 19(69): 7-13 (Persian)

(Received 19 May, 2008; Accepted 14 Jan, 2008) Abstract Background and purpose: Measurement of height and weight of children and adolescents are important sources of information and the best index for evaluation of their growth and nutritional and health status of society. This study performed to evaluate weight, height and pubertal stage of girls in sari. Materials and methods: This cross – sectional study was performed on 1320 6-18 years old school girls in elementary guidance and high school of Sari. Their height, weight and pubertal stage were evaluated and recorded by educated personas . Also Body Mass Index was calculated and recorded. Then Z score (SDS) of weight, height and the Body Mass Index studied people was compared by using calculated standard curve and findings in NCHS curve and findings of 1997 in Sari.For analyzing data, descriptive statistics, Mean±SD, Frequency and percent were used.Results: By using NCHS curve 1256 persons ( 95. 2 % ) from total persons that were studied , had normal height ( 5 – 95 percentile ) and the weight of 1254 persons ( 95 % ) were in 5 - 95 percentile . 2/5 centemers increasing in height and 2.5 Kg increasing in weight were seen in comparison to 1997 study .BMI of persons in all age groups ( expect 17 year old with ± 0.05 SD )were over than 50 percentile and mean age of beginning of menarche was 11.4 ± 1.1 .Conclusion: Our study in Sari shows the improvement in growth index in comparison to 1997 study which become near to standard curve in developed country.

(Received 14 Jul, 2008; Accepted 12 Nov, 2008) Abstract Background and purpose: Hypothyroidism is one of the most common diseases in endocrinology Thyroid hormone deficiency effects on nerve and muscle fibers, pulmonary system and alveolar ventilation. The aim of this study was to evaluate the effect of Levothyroxine therapy on pulmonary function in hypothyroidism patients in Imam Hospital.Materials and methods: This study was performed on 50 patients with hypothyroidism in Imam Hospital, Sari, Iran, 2006-2007. After a detailed clinical history and systemic examination, level of TSH, T4 and ABG test, chest radiography and spirometery was performed in all patients. The spirometery indexes including FVC, FEV1, FEV1/FVC, FEF 25-75, PEF were recorded. All patients treated with Levothyroxine 1.6μg/kg. After that all systemic and clinical examination, and chest radiography and spirometery performed again. Results analyzed by means of SPSS (11) software and paired t test. The p value less than 0.05 was considered to be significant statisticallyResults: 50 female patients, with mean age of 34.98±13.4 years were studied. The mean of TSH, T4 before treatment were 51.44±25.3 mIu/l and 2.8± 0.9 μg/dl and after treatment were 3.64±2.4 mIu/l and 9.80±4.9 μg/dl respectively (P= 0.0001). The ABG parameters were in normal range and there was no statistically significant difference between before and after treatment. Statistical analysis demonstrated significant differences between mean of FVC, FEV1, FEV1/FVC, FEF 25-75, and PEF before and after treatment.Conclusion: Our study demonstrates that treatment of hypothyroidism with Levothyroxine can improves the pulmonary function according to spirometery findings.

(Received 18 May,2008 ; Accepted 10 Sep, 2008) Abstract Leptospirosis is a Zoonotic disease that rarely manifests in a severe manner, (Weil's syndrome). Regarding epidemiology of this disease, in some rural areas of Mazandaran Province we encountered a rare case of acute pancreatitis during progression of severe Leptosprosis is presented herein. Patient is a 50 year old male farmer who was admitted to the hospital due to experiencing 10 days of fever, myalgia, vomiting, jaundice and abdominal pain. He underwent haemo-dialysis due to acute renal failure only once. Direct bilirubin was 31.7 mg/dl with serum amylase, while lipase was three times more than normal levels. The CT-Scan demonstrated diffuse pancreatic enlargement. The IgM titer fourfold which was more than normal level against leptospirosis (ELISA) confirmed the diagnosis. Patient was cured completely through supportive care and antibiotic therapy, thus, this case was reported in drawing attention to Leptospira infections, which should be considered in the differential diagnosis of patients with jaundice and pancreatitis. J Mazand Univ Med Sci 2008; 18(66):92-97(Persian)

We present human leukocyte antigen (HLA) haplotype and allele/antigenic group frequencies derived from a data set of 920 umbilical cord blood units collected in Central Chile. HLA-A and -B genotypes were typed using sequence specific oligonucleotide probe methods while HLA-DRB1 genotypes were obtained from sequencing-based typing. The most frequent haplotype is A*29~B*44~DRB1*07:01 with an estimated frequency of 2.1%.

Background. Levothyroxine is commonly used in the treatment of patients with hypothyroidism. Levothyroxine is most often administered in the morning, on an empty stomach, in order to increase its oral absorption. However, many patients have difficulties taking levothyroxine in the morning.Aim. The aim of this study was evaluating the effect of changing levothyroxine administration time from before breakfast to before dinner on the serum levels of TSH and T4.Subjects and Methods. Fifty patients between 18 and 75 years old with hypothyroidism were included in the study and were randomly divided into two groups. Each group received two tablets per day (one levothyroxine tablet and one placebo tablet) 30 minutes before breakfast and 1 hour before dinner. After two months, the administration time for the tablets was changed for each group, and the new schedule was continued for a further two-month period. The serum TSH and T4 levels were measured before and after treatment in each group.Results. Changing the levothyroxine administration time resulted in 1.47 ± 0.51 µIU/mL increase in TSH level (p=0.001) and 0.35 ± 1.05 µg/dL decrease in T4 level (p=0.3).Conclusions. Changing the levothyroxine administration time from before breakfast to before dinner reduced the therapeutic efficacy of levothyroxine.

Background This study was designed to determine relationship between the glucose metabolism disorder (the insulin resistance and the impaired glucose tolerance) and α-thalassemia. Methods In this historical cohort study, 80Alpha-thalassemia carriers and 80 healthy people were enrolled. The participants had no diabetes familial history and the waist circumference and blood pressure were in normal range (waist circumference of less than 102 cm in men, 88 cm in women and blood pressure 3.59). Conclusions The possibility of risk enhancement of the impaired glucose tolerance (pre-diabetes and diabetes mellitus) in patients with α-thalassemia is almost three times greater than the normal population without relationship with insulin resistance. Diabetic and pre-diabetic Alpha-thalassemia carrier state is younger than the general population suffering of these disorders.

Blood from a 64 year-old Caucasian male patient was HLA typed using NGS. He was determined to be homozygous for A*02:01, and this was confirmed on SSO. Buccal swab testing of the patient on SSO and SBT also confirmed the A locus homozygosity. The patient’s extracted DNA from the original blood sample was also run on high resolution SSP, confirming he was a homozygote for A*02:01. Three of the family member’s haplotypes were extrapolated by a haploidentical sibling’s HLA typing result. A blood sample from the patient’s CMV-matched, ABO-matched 29-year old son was a haploidentical match for all of the HLA loci except for the A locus. The son was a homozygote for A*03:01, missing the paternal A allele. We suspected the difference was due to a crossover phenomenon, but we could not reliably determine that due to the limited number of family members tested. The other probability was the patient had an allelic dropout. A week later, we tested the 26-year old daughter who was typed as identical to her brother. To determine the cause of the paternal missing allele in the children, we typed the patient’s second sibling. Though typing the additional family member established all 4 haplotypes in the patient’s family, the A*03:01 was not present. The hospital confirmed all family members’ biological relationship and confirmed the patient did not have a prior transplant. One more blood sample from the patient was submitted and run on all platforms, obtaining the same result. At this time, we had ruled out technology/manufacturer-related allelic dropout, crossover phenomenon, and hematological malignancy driven LOH. Although NGS produced a sequence for the entire gene of the A locus, we wondered if there could be unrecognized (blank) allele that accounted for the patient’s and children’s homozygosity? Was there possibly a germ-line mutation in a primer binding region? To ensure the two children were suitable haplo-donors for the patient, we decided it was in the patient’s best interest to run STR to confirm biological relationships. Our reasoning was that if related, the two children would be the most suitable donors considering the blank allele would be present in all three. Eleven out of 21 polymorphic genes throughout the genome excluded the patient as the biological father leading us to conclude that the two children were mismatched unrelated donors.