Prader-Willi syndrome diagnosed in adulthood: A case report / 中华内分泌代谢杂志

This article reports a case of Prader-Willi syndrome(PWS) diagnosed in adulthood. PWS is a rare genetic disease with most of the reported cases being diagnosed in infancy and childhood, and adulthood case is rarely reported. The patient had insidious symptoms in infancy and was diagnosed as PWS using genetic test in adulthood due to diabetes and menstrual disorders. This article focuses on the patient′s clinical manifestations in adulthood, and reviews relevant literature to improve the understanding of the disease.

The Effect of bifidobacterium tetravaccine tablets combined with low-dose erythromycin on the efficacy and motilin levels in the treatment of children with functional dyspepsia / 中国医师进修杂志

Objective:To explore the effect of bifidobacterium tetravaccine tablets combined with low-dose erythromycin on the efficacy and motilin (MTL) levels in the treatment of children with functional dyspepsia (FD).Methods:One hundred and fifty children with FD admitted to Shanghai Public Health Clinical Center from January 2019 to June 2020 were selected and were divided into two groups by random number table, with 75 cases in each group. The control group was treated with bifidobacterium tetravaccine tablets, and the observation group was treated with low-dose erythromycin on the basis of control group. The clinical efficacy and the disappearance time of the clinical symptoms of the two groups were compared. The changes in the frequency of gastric antrum contraction (ACF), the amplitude of gastric antrum contraction (ACA), the gastric antral movement index (MI) were detected by ultrasonic developing-out unit before and after treatment. The levels of 5-hydroxytryptamine (5-HT), nitric oxide (NO), gastrin (GAS) and MTL were detected before and after the treatment using enzyme linked immunosorbent assay. The incidence of adverse reactions was counted. The recurrence rate was recorded after 6 months of the treatment.Results:The total effective rate in the observation group was higher than that in the control group:93.33% (70/75) vs. 78.67% (59/75), and the difference was statistically significant ( χ2 = 6.700, P<0.05). The disappearance time of symptoms of nausea and vomiting, loss of appetite, abdominal distension, and abdominal pain in the observation group were shorter than those in the control group: (2.58 ± 0.45) d vs. (3.22 ± 0.68) d, (3.56 ± 0.62) d vs. (4.10 ± 0.70) d, (2.54 ± 0.46) d vs. (3.24 ± 0.69) d, (2.66 ± 0.56) d vs. (3.40 ± 0.67) d, and the differences were statistically significant ( P<0.05). The levels of ACF, ACA and MI in the observation group after the treatment were higher than those in the control group: (4.32 ± 0.90) times/min vs. (3.58 ± 0.83) times/min, (0.34 ± 0.12) vs. (0.30 ± 0.10) mm, (1.33 ± 0.42) vs. (1.14 ± 0.30), and the differences were statistically significant ( P<0.05). The levels of 5-HT and NO in the observation group after the treatment were lower than those in the control group: (164.77 ± 30.34) mg/L vs. (184.45 ± 28.90) mg/L, (38.27 ± 10.20) mmol/L vs. (46.54 ± 9.48) mmol/L; and the levels of GAS and MTL were higher than those in the control group: (115.23 ± 15.70) ng/L vs. (98.50 ± 14.29) ng/L, (266.67 ± 32.76) ng/L vs. (238.40 ± 28.97) ng/L, and the differences were statistically significant ( P<0.05). Conclusions:The treatment of pediatric FD with bifidobacterium tetravaccine tablets combined with low-dose erythromycin can significantly improve the efficacy, quickly improve the clinical symptoms of children, promote physical recovery, and regulate MTL levels to improve gastric motility. The recurrence rate is low.

Clinicopathological characteristics between papillary thyroid microcarcinoma and papillary thyroid carcinoma of diameter≥2 cm / 中华内分泌代谢杂志

Objective:To compare the differences in clinicopathological characteristics between papillary thyroid microcarcinoma (PTMC) and papillary thyroid carcinoma (PTC) with a diameter≥2 cm.Methods:Clinicopathological and follow-up information of 1 404 PTC cases with diameter≤9 cm who received surgery and were confirmed pathologically from January 2010 to May 2017 in the First Hospital of China Medical University were analyzed retrospectively. All cases were divided into PTMC group and diameter ≥2 cm PTC group according to tumor diameter. The diameter of ≥2 cm PTC group was further categorized into two subgroups with 4 cm as the boundary. Clinical and pathological characteristics were analyzed. Meanwhile, risk factors that affected lymph node metastasis and postoperative recurrence of tumor were analyzed as well.Results:(1) A total of 1 404 eligible patients were included, consisting of 1 001 cases (71.3%) of PTMC and 403 cases (28.7%) of PTC of diameter≥2 cm with a median follow-up time of 43.00 (8.00-94.00) months. There were statistical differences in gender, age, serum thyroid stimulating hormone (TSH) level, bilobe, multifocality, cervical lymph node metastasis, extrathyroidal extension, body mass index, postoperative death, postoperative recurrence, and 131I treatment rate between two groups. Age, serum TSH level, bilobe, multifocality, cervical lymph node metastasis, extrathyroidal extension, postoperative recurrence, and 131I treatment rate were found statistically different among the PTMC group, 2 cm≤diameter≤4 cm PTC group, and 4 cm<diameter≤9 cm PTC group. (2) The univariate analysis showed that the influencing factors of PTMC with cervical lymph node metastasis included male, younger age, larger tumor diameter, bilobe, multifocality, and extrathyroidal extension. The factors influencing 2 cm≤diameter≤4 cm PTC with cervical lymph node metastasis were younger age and extrathyroidal extension. Extrathyroidal extension and cervical lymph node metastasis were associated with recurrence of PTMC, while older age and larger tumor diameter were related to recurrence of 2 cm≤diameter≤4 cm PTC. (3) After multivariate analysis, age<45 years and larger tumor diameter were independent risk factors for PTMC with cervical lymph node metastasis. Age<45 years was an independent risk factor for 2 cm≤diameter≤4 cm PTC with cervical lymph node metastasis. Larger tumor diameter was an independent risk factor for 2 cm≤diameter≤4 cm PTC with recurrence. Conclusion:Clinicopathological characteristics between PTMC and diameter ≥2 cm PTC were significantly different. Age<45 years and larger tumor diameter were independent risk factors influencing prognosis.

Papillary thyroid microcarcinoma in adults may initiate from childhood / 中华内分泌代谢杂志

A total of 298577 children aged<18 years old in Fukuaka in Japan were screened for thyroid cancer after less than 3 years after nuclear accident. 110 children were diagnosed as thyroid cancer by fine needle aspiration cytology ( FNAC) and 87 cases received thyroid operation. The prevalence of thyroid cancer was 36. 8 / 100000 in population of<18 year old and 120 / 100000 at age of 16-18 years old. The 5th international expert symposium in Fukushima on radiation and health concluded that the high prevalence of thyroid cancer was not related with nuclear accident but to the screening. According to the findings, Willimas propsed a hypothesis: thyroid cancer in adults might originate from childhood. They had three stages for initiation and development of thyroid cancer: initial mutation stage, constraint growth stage, and non-constraint growth stage. The growth of thyroid cancer were stopped in the constraint stage, which was thyroid microcarcinoma.

Papillary thyroid microcarcinoma in adults may initiate from childhood / 中华内分泌代谢杂志

A total of 298577 children aged<18 years old in Fukuaka in Japan were screened for thyroid cancer after less than 3 years after nuclear accident. 110 children were diagnosed as thyroid cancer by fine needle aspiration cytology ( FNAC) and 87 cases received thyroid operation. The prevalence of thyroid cancer was 36. 8 / 100000 in population of<18 year old and 120 / 100000 at age of 16-18 years old. The 5th international expert symposium in Fukushima on radiation and health concluded that the high prevalence of thyroid cancer was not related with nuclear accident but to the screening. According to the findings, Willimas propsed a hypothesis: thyroid cancer in adults might originate from childhood. They had three stages for initiation and development of thyroid cancer: initial mutation stage, constraint growth stage, and non-constraint growth stage. The growth of thyroid cancer were stopped in the constraint stage, which was thyroid microcarcinoma.

"""Overdiagnosis"" and ""overtreatment"" in thyroid cancer" / 中华内分泌代谢杂志

The incidence of thyroid cancer in South Korea increased 15 times over the past twenty years, that made South Korea became a country of the highest reported incidence in thyroid cancer all over the world. But the mortality of thyroid cancer was stable and unchanged. The incidence of thyroid cancer in our country was growing at an annual percentage change of 20. 1%. It is a generally accepted that the sharply increased incidence is attributed tooverdiagnosis. Here we introduced the definition of overdiagnosis of cancer and the current understanding in tumor field. The corresponding strategy in our country was proposed.

The analysis of the changes of maternal thyroid autoantibodies during early pregnancy / 中华内分泌代谢杂志

Objective To investigate the changes and related factors of maternal thyroid autoantibodies during early pregnancy. Methods Urinary iodine concentration( UIC) , serum thyroid stimulating hormone( TSH) , free thyroxine ( FT4 ) , thyroid-peroxidase antibody ( TPOAb ) , thyroglobulin antibody ( TgAb ) concentrations were determined in 7 190 women during early pregnancy in an iodine-sufficient region of China. Results The prevalence of TPOAb positivity and TgAb positivity were 8. 7% and 12. 0% respectively. The prevalence of overt hypothyroidism and subclinical hypothyroidism increased significantly in group of thyroid antibody positivity. The prevalence of TPOAb positivity and TgAb positivity presented a U-shaped curve, ranging from mild iodine deficiency to iodine excess, especially increased significantly in the group with UIC<100 μg/L. Conclusion Prevalence of thyroid antibodies positivity became higher during early pregnancy. The positive thyroid autoantibodies during pregnancy were significantly associated with maternal hypothyroidism. Both iodine excess and iodine deficiency are risk factors of positive thyroid antibodies.

Two Novel Complex Mutations of CYP21A2 Gene Causing Simple Virilizing 21-hydroxylase Deficiency / 中国医科大学学报

Objective To investigate the clinical manifestations,laboratory findings and genetic characteristics of two cases with simple virilizing (SV)21-hydroxylase(21OHD). Methods Clinical manifestations and laboratory data were obtained. The promoter and coding areas of CYP21A2 gene were directly sequenced. In silico analysis were used to predict the function of mutations. Results Two patients presented severe virilism. The laboratory examinations showed that plasma ACTH,aldosterone,androstendione and testosterone were significantly increased compared with normal individuals. VCT scan showed hyperplasia of bilateral adrenal. Direct sequencing of CYP21A2 gene showed two complex mutations-H62L/V69L and I2g/10InsL,which were not reported previously. In silico analysis(Polyphen)showed the novel mutation V69L could probably damage the function of CYP21A2 protein. Conclusion The combined mutations,H62L/V69Land I2g/10InsL,could be associated with SV type 21-OHD phenotype.

Effect of iodine intake on serum thyroglobulin——A five-year prospective epidemiological study / 中华内分泌代谢杂志

Objective To clarify the effect of iodine intake on serum thyroglobulin (Tg). Methods A 5-year prospective study was conducted in the 3 different iodine intake areas in China [Panshan (miht deficiency) ,Zhangwu (more than adequate) and Huanghua (excess)]. A total of 3 099 people with normal serum levels of Tg in 1999 were followed and 2 448 of these participants were feasible to be observed in 2004 and included in the present study. The serum levels of Tg, thyraglobulin antibody(TgAb), thyroid peroxidase antibody(TPOAb) and TSH, thyroid volume, family and personal histories of thyroid diseases were measured and inquried. The general linear model (GLM) was used to explore the determinants of Tg. Results Among the study population at baseline, serum Tg were significantly different in three areas [7.5 (4.4-13. 1) μg/L at Panshan, 6.8 (3.6-11.2)μg/L at Huanghua, 5.9 (3.2-10.7) μg/L at Zhangwu, P<0.01]. They were associated with age, sex and the rate of positive TgAb, abnormal thyroid volume, abnormal TSH and positive personal history of thyroid diseases, in order to control the effects of confounding factors, the data from 1856 subjects with thyroid-related indexes all in normal range and without personal history of thyroid diseases were analyzed to clarify the effect of iodine intake on Tg. The serum Tg among three areas were significantly different in both 1999 and 2004, they were all increased in 5 years with significant augment (△ Tg) among the three areas[3.1 (-0.2-8.0) μg/L at Panshan, 3.5 (0.5-9.0)μg/L at Huanghua vs 2. 5(0.3-6.1) μg/L at Zhangwu,P<0.01]. The GLM analysis revealed that age, Tg and TSH levels at baseline were the determinants of △Tg in addition to iodine intake. Conclusion Iodine intake is a dominant determinant of serum Tg. Age and TSH should also be considered while indicating iodine intake by serum Tg.

Effect of iodine supplement on thyroid of iodine-deficient rats / 中国实用内科杂志

Objective To study the effect of chronic iodine supplement on thyroid of iodine-deficient rats.Methods Iodine-deficient rat models were made by giving 4- week-old rats iodine-deficient fodder for 3 months.These iodine-deficient rats were then supplemented for 8 months 1-,3- and 6- fold iodine which corresponded to the 3 levels of iodine intake found in our epidemiological study in 3 rural communities.Then changes of thyroid after iodine supplement were observed.Results After supplement of 1-,3- and 6- fold iodine to iodine-deficient rats for 8 months,thyroid relative weight did not recover,and iodine accumulated in thyroid.The ultrastructure injuries of swelling mitochondria and dilating endoplasmic reticulum in epithelial cells of iodine-deficient thyroid did not recover,but became worse with iodine supplement increase.Conclusion Iodine supplement alone can not correct the injuries resulting from iodine deficiency;moreover,a sub-pathological state might occur.

The study of thyroid diseases in a community not using iodized salt / 中华预防医学杂志

<p><b>OBJECTIVE</b>To investigate the prevalence of thyroid diseases in a community which did not use iodized salt.</p><p><b>METHODS</b>The survey was conducted in Panshan, Liaoning Province. 1 103 inhabitants aged 14 years or more attended the examinations, which included questionnaire, physical examination and serum analysis. Iodine in the urine and thyroid B ultrasound examination were also conducted.</p><p><b>RESULTS</b>The prevalence of overt hyperthyroidism and hypothyroidism was 16.3 per thousand and 2.7 per thousand, respectively. Subclinical hyperthyroidism and hypothyroidism were detected in 37.2 per thousand and 9.1 per thousand of the subjects, respectively. Serum autoantibodies to thyroid were detected in 10.9% of the entire population. The prevalence of goiter was 20.7% (diffuse goiter 16.8% and nodular goiter 3.9%).</p><p><b>CONCLUSION</b>In the iodine deficient areas, perhaps autoimmununization is not only related to the development of goiter but is also the main cause of subclinical hyperthyroidism and hypothyroidism.</p>