Objective To investigate iodine nutrition status in healthy adults in Xinjiang Urumqi city and their relationship to ethnicity, gender and age. Method A cross-sectional survey was performed in 2 100 residents of Xinjiang Urumqi 2 communities in May 2013, of which 1 835 healthy adults aged 18-84 years, mean age 46.3 ± 14.2 years were enrolled. Urine iodine with arsenic-cerium catalytic spectrophotometry and salt iodine and water iodine of the residents were measured. Result The water iodine content was 3.14 μg/L, salt iodine was 27.75 mg/kg, 1 835 urine samples were collected, the urinary iodine median(MUI) was133.4 μg/L, iodine deficiency accounted for 32.37% (595 cases), iodine sufficient 42.94% (788 cases), iodine super-sufficient 14.44%(265 cases), iodine excess 10.19%(187 cases). The urine iodine level in Han ethnic group was higher than those in Uygur adults, no significant difference was observed between men and women (P>0.05). Urinary iodine levels among different age groups had no statistical difference, but in the older groups the level was lower than that in young or middle age adults. The urinary iodine level decreased gradually with the age increasing. Conclusion There was a sufficient pattern of iodine nutrition levels in healthy adults in Xinjiang Urumqi; there was a correlation between the level of iodine nutrition and the ethnicity but not with gender;iodine nutrition level in older age group was lower than those in younger age groups. Monitoring the urinary iodine continually and decreasing iodine intake may be necessary for part of iodine excess population.

Objective:To explore the genetic basis and pathogenesis for a child with type Ⅰ Hereditary hemorrhagic telangiectasia (HHTⅠ) and Splenic sinus shore cell hemangioma (LCA).Methods:A child with HHT complicated with LCA diagnosed at the First Affiliated Hospital of Dali University in April 2022 was selected as the study subject. Clinical data of the child and her relatives were collected, and pathogenic variants were screened by whole exome sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis.Results:The patient, a 16-year-old female, had recurrent epitaxis since childhood, which sometimes necessitated hemostasis treatment. She also had splenectomy due to splenic rupture and was diagnosed with LCA. Her father and grandmother also had a history of recurrent epitaxis. Her father had deceased due to cerebral vascular rupture. The child was found to harbor a c. 360+ 1G>A variant in the ENG gene. The same variant was not found in her asymptomatic mother and brother. Conclusion:The c.360+ 1G>A variant of the ENG gene probably underlay the pathogenesis in this child.

OBJECTIVE: To explore the etiology of a patient with Kallmann syndrome (congenital hypogonadism and anosmia) and a 45,X/46,XY karyotype. METHODS: Peripheral venous blood samples were collected from the proband and his parents and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: The proband was found to harbor compound heterozygous variants of the PROKR2 gene, namely c.533G>C (p.W178S) and c.308C>T (p.A103V), which were inherited from his father and mother, respectively. The two variants were respectively predicted to be likely pathogenic and variant of unknown significance, respectively. CONCLUSION The reduced chromosomal mosaicism might have caused no particular clinical manifestations in this patient. For patients with features of Kallmann syndrome, genetic testing is conducive to early diagnosis and can provide a basis for genetic counseling and clinical treatment.
Humans ; Genetic Testing ; Hypogonadism/genetics* ; Kallmann Syndrome/genetics* ; Karyotype ; Mutation ; Exome Sequencing ; Chromosomes, Human, X/genetics* ; Chromosomes, Human, Y/genetics*

Objective To investigate the correlation between abdominal obesity and autoimmune thyroid disease in the view point of helper T cells and cytokines.Methods Clinical and laboratory data were collected from 108 pa-tients with Hashimoto's thyroiditis(HT)plus abdominal obesity and 122 patients of Hashimoto's thyroiditis without abdominal obesity who visited the People's Hospital of Xinjiang Uygur Autonomous Region and also from the control population.Abdominal circumference was measured,and patients in the HT patients were grouped according to whether they were abdominally obese or not.The thyroglobulin antibody(TgAb)and thyroid peroxidase antibody(TPOAb)were detected,and the ratio of helper T cells and related cytokines were detected by flow cytometry and enzyme-linked immunosorbent assay.Results The abdominal circumference of the TgAb-positive group was higher than that of the TgAb-negative group(P＜0.05).Correlation analysis suggested that abdominal circumference was significantly and positively correlated with TgAb and IL-4 but negatively correlated with Th1.After correcting for gender and age,and abdominal obesity and IL-4 were risk factors for TgAb antibody positivity OR=3.080(95％CI:1.022-9.284)and OR=1.296(95％CI:1.022-9.284),both with P＜0.05.Conclusions Abdominal obesity may be an influential factor in TgAb antibody positivity,with larger abdominal circumference having higher TgAb antibody titers,lower Th1 levels,and higher IL-4 levels.Visceral adiposity may exacerbate autoimmune dam-age of thyroid tissue by disruption of helper T cell pathway.

Objective: To study the effects of a standardized diagnosis and treatment program for type 2 diabetes mellitus patients, in a community in Urumqi. Methods: In March 2016, 1 000 patients with type 2 diabetes at the Urumqi Xinhua Road community health service center and affiliated communities were selected to participate in a questionnaire survey and in a promotion for a 12-month standardized treatment. T-test and χ² test were used to compare the blood sugar, blood pressure, blood lipids, ratio of urine microalbumin and creatinine (urine A/C) and other metabolic indices in patients before and after the promotion. Results: In a total of 112 finalists, after a 4-month follow-up, rates of regular exercise, diet control, taking medication on time and regular blood glucose monitoring all improved significantly from 35.7%, 40.2%, 13.7%, 29.5% to 56.3%, 68.8%, 56.3%, 45.5%, respectively (χ²=9.508, 8.643, 45.319, 6.171; P < 0.05). The rates of smoking and drinking were lower after the promotion (χ²=4.291, 4.56; P < 0.05). Body mass index (BMI), fasting blood glucose (FPG), glycated hemoglobin (HbA1c), systolic blood pressure, total cholesterol (TC), creatinine, and urine A/C decreased significantly, while there was no significant difference in the diastolic blood pressure. The percentage of participants with normal blood sugar, lipids and blood pressure, significantly improved from 38.4%, 37.5%, 23.6%, 8.9% to 63.4%, 66.4%, 43.7%, 23.2%, respectively. The rate of urine A/C positivity decreased from 40.2% to 26.8% (χ²=14.004, 18.309, 10.604, 8.473, 4.510, P < 0.05). Conclusion Standardized type 2 diabetes treatment programs can improve the blood levels of glucose and lipids, as well as lower blood pressure and the positive rate of urine A/C. It can help reduce the multiple risk factors and long-term complications by improving the self-management of diabetes.