Differentiating benign and malignant thyroid nodules: A cross-sectional study on the comparison of diagnostic value of ultrasound elastography and fine needle aspiration biopsy.

Background and Aim: This study examines the comparison of ultrasound elastography and fine needle aspiration (FNA) in diagnosing thyroid cancers and investigates the use of elastography as the initial diagnostic test of thyroid cancers to avoid the need for invasive diagnostic tests. Methods: In this study, 28 patients with 48 thyroid nodules (TNs) who were candidates for FNA or surgery were examined within a period of 18 months. Cut-off and subsequently sensitivity and specificity for elastography results, compared to pathology results as the gold standard, were calculated using the receiver operating characteristic curve (ROC). Results: Based on ROC, the cut-off point differentiating the tissue stiffness between benign and malignant TNs was 25.400 kilopascal (kPa) (sensitivity of 90.9% and specificity of 78.4%). It was observed that age affects the tissue stiffness; therefore, the cut-off was defined as 65.625 kpa for age groups under 50 years old (sensitivity of 100% and specificity of 100%) and 25.400 kpa for the age group above 50 years old (sensitivity of 88.9% and specificity of 70.4%). Conclusion: Based on the high sensitivity and specificity of shear wave elastography in the differentiation of benign and malignant TNs, it can be employed as a stand-alone or in combination with other diagnostic techniques to reduce the need for inessential surgical operations. However, future studies or developments are needed on this promising diagnostic technique.

Study on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism Patients with X-Linked Recessive Inheritance.

Idiopathic hypogonadotropic hypogonadism (IHH) is a condition caused by low doses of hypothalamic gonadotropin-releasing hormone (GnRH) leading to absence or incomplete sexual maturation. One of the disorders leading to IHH is Kallmann syndrome which is characterized by GnRH deficiency with anosmia or hyposmia. This disorder generally occurs as a hereditary syndrome with X-linked recessive inheritance pattern. However, autosomal dominant or recessive and sporadic cases have also been reported. KAL1 is the most common mutated gene among these patients. The aim of this study was to determine the mutation spectrum of KAL1 gene in twenty patients. KAL1 exons were amplified by PCR method and the products were assessed by high resolution melting (HRM) technique. In addition, for one of the patients, all coding exons of the KAL1 gene were sequenced. Deletion of exons 4, 5 and 6 were evident in 5%, 10%, and 10% of patients, respectively. Furthermore, HRM results showed hemizygous mutation of exon 12 with more than 95% probability in 25% of patients. Finding these mutations could be helpful in the early diagnosis and presymptomic treatment of Kallman syndrome.

Association between vitamin D receptor gene polymorphisms and type 1 diabetes mellitus in Iranian population.

Type 1 diabetes mellitus (T1DM) is one of the T-cell mediated autoimmune diseases and vitamin D suppresses activation of T-cell and has immunomodulatory effects. In this study the association between four vitamin D receptor (VDR) gene polymorphisms, at positions FokI, BsmI, ApaI and TaqI, and susceptibility to T1DM was investigated. We assessed 87 Iranian patients with T1DM and one hundred healthy controls with no history of diabetes or other autoimmune diseases. Our results demonstrated that genotypes frequency of the TaqI VDR polymorphism differed significantly between T1DM patients and controls, TT genotype and T allele was more frequent in healthy controls compared with TIDM patients (P = 0.003; OR = 0.51, 95% CI = 0.31-0.84). Therefore, allele t is the risk-allele for developing TIDM in this study. No significant association was observed between others VDR SNPs and disease susceptibility. In conclusion, our case-control study indicated that the VDR TaqI polymorphism is associated with TIDM in Iranian population.

Mutations in the coding regions of the hepatocyte nuclear factor 4 alpha in Iranian families with maturity onset diabetes of the young.

Hepatocyte nuclear factor 4alpha (HNF4alpha) is a nuclear receptor involved in glucose homeostasis and is required for normal beta cell function. Mutations in the HNF4alpha gene are associated with maturity onset diabetes of the young type 1 (MODY1). The aim of the present study was to determine the prevalence and nature of mutations in HNF4alpha gene in Iranian patients with a clinical diagnosis of MODY and their family members. Twelve families including 30 patients with clinically MODY diagnosis and 21 members of their family were examined using PCR-RFLP method and in case of mutation confirmed by sequencing techniques. Fifty age and sex matched subjects with normal fasting blood sugar (FBS) and Glucose tolerance test (GTT) were constituted the control group and investigated in the similar pattern. Single mutation of V255M in the HNF4alpha gene was detected. This known mutation was found in 8 of 30 patients and 3 of 21 individuals in relatives. Fifty healthy control subjects did not show any mutation. Here, it is indicated that the prevalence of HNF4alpha mutation among Iranian patients with clinical MODY is considerable. This mutation was present in 26.6% of our patients, but nothing was found in control group. In the family members, 3 subjects with the age of

Evaluation of sexual function in women with type 2 diabetes mellitus.

Sexual health is an important, but often neglected, component of diabetes care. In contrast to erectile dysfunction among men with diabetes, female sexual dysfunction has not been well studied among diabetic women. The aim of this study was to assess the prevalence of sexual dysfunction in women with type 2 diabetes compared to that in an age-matched control group. In all, 50 married women with type 2 diabetes attending the outpatient endocrine clinic of Ghaem Hospital between April 2007 and March 2008 were selected. Fasting plasma glucose and glycosylated haemoglobin were measured and sexual function was assessed by questionnaire. Scores in each domain of sexual function were compared with those of 40 non-diabetic controls. Sexual function scores for the sexual drive, arousal, vaginal lubrication, orgasm and overall satisfaction domains were all lower in the diabetic women (p value < 0.05). Duration of diabetes and age correlated negatively with all domains of sexual function. There was no significant relationship between sexual function and body mass index (BMI), glycaemic control, education or employment status. Diabetes significantly impairs the sexual performance of diabetic women. Determinants of sexual function include age and duration of diabetes.