1.Investigation and analysis of iodine nutritional statusin healthy adults in Urumqi of Xinjiang Uyghur Autonomous Region
Xinling WANG ; Aihemai TUHUTI ; Fuhui MA ; Yanying GUO ; Hongli ZHAO ; Reziwan OSIMAN ; Munila ABUDUNAIYIMU ; Xiaoping JIN ; Huili WANG ; Shuqing XING
Chinese Journal of Health Management 2015;(4):297-300
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.
2.Analysis of a patient with Kallmann syndrome and a 45,X/46,XY karyotype.
Fuhui MA ; Xinling WANG ; Wusiman REZIWANGULI ; Yuan CHEN ; Yanying GUO
Chinese Journal of Medical Genetics 2022;39(11):1275-1278
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
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Genetic Testing
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Hypogonadism/genetics*
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Kallmann Syndrome/genetics*
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Karyotype
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Mutation
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Exome Sequencing
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Chromosomes, Human, X/genetics*
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Chromosomes, Human, Y/genetics*
3. Standardized diagnosis and treatment program for type 2 diabetes mellitus in a community in Urumqi
Fuhui MA ; Yunzhi LUO ; Lan WU ; Jie ZHANG ; Munila ABUDUNAIYIMU ; Nurongguli MAIMAITI ; Xinling WANG
Chinese Journal of Health Management 2018;12(4):355-359
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;
4.Changes of thyroid function, thyroid antibodies and urinary iodine among permanent residents of Urumqi in Xinjiang.
Xinling WANG ; Reziwan OSIMAN ; Fuhui MA ; Yanying GUO ; Email: GUOZEYANG@126.COM. ; Hemai TUHUTI ; Hongli ZHAO ; Munila ABUDUNAIYIMU ; Xiaoping JIN ; Huili WANG ; Shuqing XING
Chinese Journal of Epidemiology 2015;36(8):811-814
OBJECTIVETo understand the rates of diagnosis on thyroid disease and the differences in the distribution of age groups among those permanent residents, to analyze the relationships among thyroid function, thyroid antibodies and urinary iodine.
METHODSA cross-sectional survey was performed in 1 995 permanent residents in Urumqi, Xinjiang in May, 2013, Among them, 1 906 were healthy adults aged 18-84 age, with mean age as (46.3 ± 14.2) years and 30.4% of them were men. One time 10 ml random urine and blood samples were drown to examine urinary iodine (UI) thyroid stimulating hormone (TSH), free thyroxine (FT4), free triiodothyronine (FT3), anti-thyroglobulin (TgAb) and anti-thyroid peroxidase (TPOAb).
RESULTS1) 213 residents were newly diagnosed as having thyroid dysfunction (11.2%, including 78.4% women), hyperthyroidism (clinical and subclinical hyperthyroidism) that accounted for 2.7%, hypothyroidism (clinical and subclinical hypothyroidism) was accounted for 8.5%. Positive rates of TgAb (23.2%), TPOAb (16.6%) were noticed. The median urinary iodine was 134.5 µg/L, with 32% of the subjects were having iodine deficiency, 58% having adequate iodine and another 10% as under excessive iodine. No differences were observed on urine iodine between thyroid dysfunction and euthyroidism or between subjects with positive and negative antibodies. 2) TSH appeared different among age-groups of 18-, 45- and over 60. TSH showed higher in women than in men, with P value as < 0.001. For people with euthyroidism, TSH level in the antibody positive group was significantly higher than the antibody negative group (P < 0.000 1). 3) For people over 60 of age, morbidity of hypothyroidism was significantly higher than those under 60 but with no differences related to hyperthyroidism or the antibody positive rate.
CONCLUSIONUI levels were not significantly related with thyroid function and thyroid antibodies among residents of Urumqi, women showed higher on thyroid dysfunction or the rate of positive antibody. In the antibody positive group, TSH levels were significantly higher than in the antibody negative group. Hypothyroidism was seen higher in the over 60-years-of-age population. Monitoring programs on thyroid function, thyroid antibodies and urinary iodine among people over 60-years-of-age, should be strengthened.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Autoantibodies ; blood ; Autoantigens ; blood ; China ; epidemiology ; Cross-Sectional Studies ; Female ; Humans ; Hypothyroidism ; epidemiology ; Immunologic Tests ; Iodide Peroxidase ; blood ; Iodine ; urine ; Iron-Binding Proteins ; blood ; Male ; Middle Aged ; Thyroid Diseases ; epidemiology ; Thyroid Function Tests ; Thyroid Gland ; physiology ; Thyrotropin ; blood ; Thyroxine ; blood ; Triiodothyronine ; blood ; Young Adult