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The coexistence of mutations in the dual oxidase maturation factor 2 (DUOXA2) and dual oxidase 2 (DUOX2) genes is rarely identified in congenital hypothyroidism (CH). This study reports a boy with CH due to a novel splice-site mutation in the DUOXA2 gene and a missense mutation in the DUOX2 gene. A four-year-old boy was diagnosed with CH at neonatal screening and was enrolled in this study. The DUOXA2, DUOX2, thyroid peroxidase (TPO), and thyrotropin receptor (TSHR) genes were considered for genetic defects screening. Genomic DNA was extracted from peripheral blood leukocytes, and Sanger sequencing was used to screen the mutations in the exon fragments. Family members of the patient and the controls were also enrolled and evaluated. The boy harbored compound heterozygous mutations including a novel splice-site mutation c.554+5C>T in the maternal DUOXA2 allele and c.2654G>A (p.R885Q) in the paternal DUOX2 allele. The germline mutations from his parents were consistent with an autosomal recessive inheritance pattern. No mutations in the TPO and TSHR genes were detected. A novel splice-site mutation c.554+5C>T in the DUOXA2 gene and a mutation p.R885Q in the DUOX2 gene were identified in a 4-year-old patient with goitrous CH. [ABSTRACT FROM AUTHOR]

Introduction: To investigate whether serum levels of butyrylcholinesterase activity, cystatin C, and pre-albumin has the potential value as γ-glutamyl transferase in reflecting gestational diabetes mellitus and its fetal outcome. Materials and Methods: Seventy-six gestational diabetes mellitus women and 76 pregnancies with normal glucose tolerance in the second trimester were enrolled. Maternal serum parameters of butyrylcholinesterase activity, γ-glutamyl transferase, cystatin C, and pre-albumin were detected and evaluated. The pregnant complications and fetal outcome were also evaluated. Results: Levels of butyrylcholinesterase activity, γ-glutamyl transferase, cystatin C, pre-albumin and glycemic variables were higher in the gestational diabetes mellitus patients than in the controls. Levels of butyrylcholinesterase activity were significantly correlated to the levels of fasting plasma glucose, cystatin C, and γ- glutamyl transferase (p < 0.05) in the gestational diabetes mellitus group. There were statistical differences in cases of preterm delivery, preeclampsia and postpartum hemorrhage. Higher levels of γ-glutamyl transferase and pre-albumin were risk markers for gestational diabetes mellitus (p < 0.05). The diagnosis curve demonstrated that γ-glutamyl transferase had a significant advantage over other markers (p < 0.001) but no significance compared with pre-albumin (p = 0.096). None of the detected markers showed predictive value for fetal outcome. Conclusion: Serum levels of butyrylcholinesterase activity, γ-glutamyl transferase, cystatin C and pre-albumin were correlated with gestational diabetes mellitus status but not with the fetal outcome. Pre-albumin can be equivalent as γ-glutamyl transferase in reflecting the presence of gestational diabetes mellitus. [ABSTRACT FROM AUTHOR]

Overview: To investigate whether serum ischemia-modified albumin or C-reactive protein is reliable for predicting type 2 diabetic patients with ketosis. Approach: One hundred and four diabetic patients, 48 with diabetic ketosis, and 33 controls were enrolled in the study. Serum ischemiamodified albumin and C-reactive protein were measured and evaluated for their ability to distinguish diabetic ketosis. Results: Compared to the controls, the ischemia-modified albumin and C-reactive protein levels were higher in patients with diabetic ketosis and type 2 diabetes at the baseline. The levels of ischemia-modified albumin were higher in patients with type 2 diabetes than in the controls. C-reactive protein and ischemia-modified albumin levels were reduced after insulin treatment. The level of ischemiamodified albumin was an independent risk marker for diabetic ketosis (OR = 1.085, P = 0.008, 95% CI: 1.022-1.152). Receiver operating characteristic curves revealed that the areas under the curve were 0.917 for the modified albumin and 0.357 for C-reactive protein. Conclusion: This study indicates that ischemia-modified albumin was significantly associated with diabetic ketosis and was more sensitive than C-reactive protein in reflecting diabetic ketosis. [ABSTRACT FROM AUTHOR]

BACKGROUND: The thyroperoxidase (TPO) genetic variants in thyroid carcinoma is scarcely reported. OBJECTIVE: We report on a pedigree of thyroid papillary carcinoma and hypoechoic thyroid nodules with the TPO gene mutations. METHODS: The compound heterozygotic mutations of the TPO gene (c.2268-2269 insT and c.2090 G>A) in two patients with congenital goiters hypothyroidism were demonstrated. Fifteen family members of the proband and 105 control individuals were enrolled. The participants underwent clinical examination and molecular screening for TPO mutation. The hypoechoic thyroid nodules underwent fine needle aspiration biopsy. RESULTS: The mutation c.2268-2269 insT was detected in the four family members with normal thyroid hormone levels. The other two members harbored the c.2090 G>A mutation. The heterozygotes had degeneratively hypoechoic thyroid nodules. The control individuals showed no mutation. The maternal grandfather developed a multifocal papillary thyroid carcinoma with lymph gland and nerve invasion in the left lobe of the thyroid gland. The maternal grandfather harbored the TPO c.2268-2269 insT mutation but without BRAFV 600E mutation. Malignant cells were not observed in other members by fine needle aspiration biopsy. CONCLUSION: TPO genetic variants may be associated with thyroid carcinoma and hypoechoic thyroid nodules in a few cases. Long-term follow-up in the pedigree with congenital goiter is reasonable. [ABSTRACT FROM AUTHOR]

Background: The influence of Hashimoto's thyroiditis (HT) with subclinical hypothyroidism or euthyroid status on the alteration of glucagon-like peptide (GLP)-1 and GLP-2 levels remains uncertain. Materials and Methods: Twenty-four untreated HT patients with subclinical hypothyroidism, 24 euthyroid HT patients, and 24 age- and gender-matched controls were enrolled in the study. The levels of GLP-1, GLP-2, glucose, glycated albumin, insulin, thyroid hormone, and thyroid autoantibodies were measured and evaluated. Results: The levels of GLP-1, blood glucose, and triglyceride were higher in HT patients with subclinical hypothyroidism than in controls (all P < 0.05, respectively). However, the above variables, including GLP-2, were similar in euthyroid patients and controls. Neither GLP-1 nor GLP-2 was correlated with thyroid hormone, thyroid autoantibodies or metabolic parameters. Conclusion: The serum levels of GLP-1, not GLP-2, were increased in patients with subclinical hypothyroidism. Our data suggest that subclinical hypothyroidism affects circulating GLP-1 levels. [ABSTRACT FROM AUTHOR]

Introduction: The right thyroid lobe has a little bigger size and a few more number of cells than the left lobe. It is uncertain whether this anatomical variation may reflect the distribution differences of the malignant thyroid nodules. Aim: To investigate the location differences and clinical characteristics of the benign and malignant thyroid nodules. Materials and Methods: A total of 2194 participants with thyroid nodules were enrolled in this study. Colour Doppler was used to observe the parameters, including the number of nodules, nodule size, nodule shape, nodule capsule, internal echo and haemodynamics . The malignant thyroid nodules were diagnosed by thyroid ultrasonography and pathology. Statistical analysis was conducted with SPSS 16.0 software. results: The right lobes (46.5%) were more frequently encroached by Papillary Thyroid Carcinoma (PTC) than the left lobes and isthmus. The ratio of envelopes invaded by tumours was 45.6% for the right lobe, 40.4% for the left lobe, and 14% for the bilateral lobes. The ratio of lymph node metastases, which were encroached by PTC was approximately 24.2%. Adenoma, cyst and calcification were observed more frequently in the right lobes than in the left lobes. conclusion: The right lobe suffered from benign and malignant thyroid diseases more frequently than the left lobe. The right envelopes and lymph glands were more frequently encroached by PTC. More attention should be paid to the nodules on the right lobes. [ABSTRACT FROM AUTHOR]

Studies on the alterations of liver and kidney function parameters in patients with diabetic ketoacidosis (DKA) and diabetic ketosis (DK) were limited. Participants with DKA, DK, non-DK, and healthy controls were enrolled in the current study. Parameters of liver and kidney function were measured and evaluated. The patients with DKA had higher levels of plasma glucose, hemoglobin A1c (HbA1c), uric acid, and creatinine but lower levels of transferases and protein compared with the other three groups (p < 0.05 for all). The patients with DK had higher levels of plasma glucose and HbA1c but lower levels of glutamyl transpeptidase and protein compared with the non-DK and control groups (p < 0.05). Prealbumin levels were significantly reduced in the severe DKA patients compared with the mild/moderate DKA patients. Serumprealbumin levels were correlated with albumin levels (r = 0.401, p= 0.010),HCO3 (r = 0.350, p = 0.027), and arterial pH (p = 0.597, p < 0.001) in the DKA patients. Adiagnostic analysis showed that lower prealbumin levels significantly reflected the presence of hyperglycemic emergencies (p < 0.001). Liver and kidney function parameters deteriorated, especially in DKA. Prealbumin levels can be of value in detecting the presence of hyperglycemic crisis. [ABSTRACT FROM AUTHOR]