Evaluation of quality of life and depression in family caregivers of patients with type 1 diabetes in Iran: A case-control study.

Objective: Diabetes as a silent epidemic and one of the top four causes of death in the world. This study was designed to evaluate the quality of life and depression in family caregivers of patients with type 1 diabetes in Iran. Methods: The study was case-control study (cases, n = 50; controls, n = 50). The cases consisted of family caregivers of patients with type 1 diabetes who referred to the endocrinology clinic of Kosar Hospital in Semnan in 2020. The controls were a random sample from among family caregivers of non-diabetic patients who had referred to the same center in the same year. Demographic and family variables, the 36-Item Short Form Survey questionnaire, and Beck's Depression Inventory were used to collect data. Univariate and multivariable logistic regression models with receiver operator characteristic (ROC) curve were used to data analysis in STATA 14. Results: The multivariable logistic regression model showed a significant association between existence of a patient with type 1 diabetes with number of caregivers' children (odds ratio (OR) = 1.77; 95% confidence interval (CI): 1.06-2.94), quality of life (OR = 0.82; 95% CI: 0.74-0.90), sex (OR = 10.04; 95% CI: 2.29-43.99), and income level of caregivers (OR = 6.49; 95% CI: 1.35-31.08); however, it did not show a significant relationship with depression (OR = 1.02; 95% CI: 0.94-1.10). Conclusion: The quality of life in family caregivers of type 1 diabetics is low and gender, income level, and number of caregivers' children were the most important factors predicting it. Therefore, psychological interventions to manage stress and improve the quality of life of family caregivers are recommended.

Relationship between subclinical hypothyroidism and distal-symmetric diabetic polyneuropathy in type 2 diabetes mellitus referred to Kosar Hospital in Semnan and related indicators in 2019-2020.

Introduction: Diabetes is one of the most common metabolic diseases and one of its important complications is diabetic neuropathy. Due to the relationship between diabetes and thyroid disorders, the present study was performed to determine the association between subclinical hypothyroidism and end-stage diabetic polyneuropathy in patients with type 2 diabetes. Materials and Methods: In this descriptive, analytical study, 154 patients with type 2 diabetes referred to Kosar Hospital in Semnan were evaluated. After recording their demographic information, samples were received for biochemical testing. The patients' neuropathy was then evaluated based on the United Kingdom screening test (UKST). The results were recorded in the data collection form and then analyzed using SPSS Statistics 22 software. Results: In this study, 154 patients were studied, including 49 with subclinical hypothyroidism and 105 with euthyroid. The results of the present study showed that the mean age of patients in the subclinical hypothyroid group was 60.08 years and in the euthyroid group was 60.77 years. Mean ± standard deviation (SD) of the patients' age, blood pressure, duration of diabetes, body mass index, fasting blood sugar (FBS) and Glucose, and 2-hour post prandial (2HPP) were not statistically significant between the two groups. The frequency of neuropathy severity based on clinical signs during examination and symptoms mentioned by the patients in the two groups was statistically significant (P = 0.005 and P = 0.001, respectively). The severity of neuropathy was not significantly associated with thyroid-stimulating hormone (TSH) levels (P > 0.05). Conclusion: From the results of the present study, it can be concluded that the severity of neuropathy based on the clinical signs during examination and the symptoms mentioned by the patient in diabetic patients is related to subclinical hypothyroidism. Further studies are recommended.

Prediction of Absorbed Dose to Normal Organs with Endocrine Tumors for I-131 by use of 99mTC Single Photon Emission Computed Tomography/Computed Tomography and Geant4 Application for Tomographic Emission Simulation.

INTRODUCTION: This study aimed to predict the dose absorbed by normal organs with neuroendocrine tumors for 131I using single photon emission computed tomography/computed tomography (SPECT/CT) images and Geant4 application for tomographic emission (GATE) simulation. MATERIALS AND METHODS: Four to 5 whole-body planar scan series, along with one SPECT/CT image, were taken from four patients following 99mTc-hynic-Tyr3-octreotide radiotracer injection. After image quantification, the residence time of each organ was calculated using the image analysis and the activity time curves. The energy deposit and dose conversion (S-value) were extracted from the GATE simulation for the target organs of each patient. Using the residence times and S-values, the mean absorbed dose for the target organs of each patient was calculated and compared with the data obtained from the standard method. RESULTS: Very close agreement was obtained between the S-value of the self-organ irradiation. The mean percentage difference between the two methods (i.e. GATE and Medical Internal Radiation Dose [MIRD]) was 1.8%, while a weak agreement was observed for cross-organ irradiation. The percentage difference between the total absorbed doses by the organs was 2%. The percentage difference between the absorbed doses obtained for tumors and three considered normal organs estimated by the GATE method was slightly higher than the MIRD method (about 11% on average for tumors). CONCLUSION: Regardless of the small difference between the obtained results for the organs and absorbed doses of the tumors in the present study, patient-specific dosimetry by the GATE methods is useful and essential for therapeutic radionuclides such as 131I due to high cross-dose effects, especially for young adult patients, to ensure the radiation safety and increase the effectiveness of the treatment.

A Homozygous Truncating Mutation in NALCN Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature.

Infantile hypotonia, with psychomotor retardation and characteristic facies 1 (IHPRF1), is a rare disorder characterized by global developmental delay and dysmorphic features. This syndrome is caused by genetic anomalies within the NALCN gene. The current report examines a 9-year-old female IHPRF1 patient. Our objective was to contribute to the delineation of the underlying factors influencing this rare condition. Whole exome sequencing (WES) was utilized to identify the disease-causing mutation in the affected individual. Subsequently, Sanger sequencing was performed for the patient, her parents, and two close relatives in order to confirm the detected mutation. Moreover, detailed clinical examinations including EEG, echocardiography, and biochemical/physical tests were carried out to elucidate the effects of the mutation. WES identified a homozygous nonsense mutation in the NALCN gene (c.2563C>T p.R855X). This mutation was confirmed by Sanger sequencing in the patient and her family members and segregated with the autosomal recessive inheritance pattern of IHPRF1. Moreover, genotype-phenotype correlation analysis confirmed the disease-causing nature of this mutation. The current report provides the first detailed description of a patient with this homozygous nonsense mutation (c.2563C>T p.R855X) and expands the clinical spectrum of IHPRF1 disease. Possible influences of sex and other factors on this disease are discussed and a review of the literature is also provided.

A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature.

BACKGROUND: The SLC29A3 gene, encoding a nucleoside transporter protein, is found in intracellular membranes. Based on the literatures, mutations in this gene cause a wide range of clinical manifestations including H syndrome, pigmented hypertrichosis with insulin dependent diabetes, Faisalabad histiocytosis, and dysosteosclerosis. However, all these disorders with their different names and terminologies are actually the same entity termed H syndrome. CASE PRESENTATION: We report four GJB2 and GJB6 negative deaf patients from two Iranian related families who present the associated symptoms of SLC29A3-disorder. Whole Exome Sequencing (WES) using Next Generation Illumina Sequencing was used to enrich all exons of protein-coding genes as well as some other important genomic regions in one of studied patients. A novel homozygous frame-shift mutation c.307-308delTT (p.Phe103fs) in exon 3 of SLC29A3 gene was identified in a 35 years old man with profound hearing loss, camptodactyly, rheumatoid arthritis and delayed puberty without any skin changes, short stature and insulin dependent diabetes mellitus. The mutation found was also confirmed by Sanger sequencing in other studied patients and their healthy parents. In compared to proband, however the clinical manifestations of these patients were different, indicating variable expressivity of mutant SLC29A3 gene as well as possible involvement of other modifier genes. CONCLUSION: The present study uncovered a rare novel homozygous frame-shift mutation c.307-308delTT in SLC29A3 gene of four related patients with various manifestation of SLC29A3-disorder. Such studies can help to conduct genetic counseling and subsequently, prenatal diagnosis more accurately for individuals at the high risk of these types of genetic disorders.

The Effect of Fine needle aspiration on Detecting Malignancy in Thyroid Nodule.

Introduction The prevalence of thyroid nodules is 4-7% in adults. Although less than 5% of nodules in adults are malignant, most nodules are non-neoplastic or benign. Fine needle aspiration (FNA) is a diagnostic technique for evaluation of non-toxic nodules, which has been widely accepted. Its primary objective is the patient triage in order to identify those who need surgery and aid in the decision of the appropriate surgical procedures. Materials and Methods This retrospective study was conducted on 116 patients who underwent thyroidectomy in Semnan's Kowsar Hospital during 2011-2018 in Iran. The data were recorded before and after the surgery in the checklist. The data were compared and the sensitivity, specificity and diagnostic accuracy of FNA were calculated. Data were analyzed by SPSS software (version 18.0) and analyzed by Chi-Square test and Independent Samples test. Results The sensitivity of FNA was 96.9%; its specificity was 81.7%; its positive predictive value (PPV) was 73.8%; its negative predictive value (NPV) was 98%; and its diagnostic accuracy was 86.9%. For the nodules smaller than 4 cm, FNA was calculated with higher sensitivity, specificity, PPV, NPV, and diagnostic accuracy compared to nodules larger than 4 cm. Conclusion FNA is a reliable screening method for preoperative assessment that can accurately detect malignant cases from benign cases, especially if the size of the nodule is smaller than 4 cm.

Comparison of the effect of vitamin D on osteoporosis and osteoporotic patients with healthy individuals referred to the Bone Density Measurement Center.

Objective Osteoporosis is the most common metabolic disease of the bones. Osteoporosis reduces bone density, predisposes a person to fractures, and imposes high costs on societies. Osteoporosis develops from a variety of causes, one of the most significant is vitamin D deficiency. This study investigates the impact of vitamin D on osteoporosis. Materials and Methods In this clinical trial, 400 patients referred to the Bone Density Clinic of Kowsar Hospital in Semnan were selected by convenience sampling method. Bone densitometry tests were carried out using DEXA (x-ray absorptiometry) and serum vitamin D levels were measured by the ELISA method. Subjects with vitamin D deficiency were treated for 8 weeks with (50,000 Vitamin D units per week. At the end of the treatment period, all subjects were evaluated for bone density and the results of both groups were compared. Results 13% of subjects had osteoporosis and 14.2% had osteopenia. 19% of subjects had vitamin D deficiency, 38.8% had insufficient levels of vitamin D, and 42.3% had sufficient vitamin D levels. The level of vitamin D in patients with osteoporosis (5.50 ± 5.5 ng/ml) was less than those with osteopenia (7.83 ± 4.8 ng/ml) and those with normal bone mineral density (23.88 ± 18.42 ng/ml) (P <0.001). The prevalence of osteoporosis in the intervention group after intervention with vitamin D was significantly lower than the control group (32.3 versus 67.7 and P <0.001). Conclusion The prevalence of serum vitamin D deficiency in osteopenic and osteoporotic individuals was higher than in normal subjects, with a significant relationship between age and sex. Thus, treatment with vitamin D improves bone density indices.