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.

Purpose To analyze the clinical pathological characteristics and pathological diagnosis and prognosis of spindle cell carci-noma of the breast. Methods Three cases of spindle cell carcinoma of the breast were studied by morphological and immunohisto-chemical EnVision techniques. Results The females were 48, 63 and 71 years old. The tumors located in the right breast with 4. 0 cm × 3. 0 cm × 3. 0 cm, 3. 0 cm × 2. 0 cm × 2. 0 cm and 3. 5 cm × 2. 8 cm × 2. 3 cm in size and showed cystic lesion. The neoplasm was composed of bland spindle cells and mimicking fibromatosis. Immunohistochemical staining showed that spindle cells were positive for CK(AE1/AE3), CK(34βE12), CK14, CK5/6, p63 and vimentin, negative for ER, PR and c-erbB-2. Ki-67 was positive in 20%, 25% and 20% of the cells. Conclusion Spindle cell carcinoma of the breast is a rare subtype of the metaplastic carcinoma which tend to show cystic changes. It is important to make a definite diagnosis which combine histopathologic features and immunophe-notyping.

A total of 1 870 patients who had undergone thyroidectomy were investigated.The mean TSH level in patients with differentiated thyroid cancer (DTC) was significantly higher than that in patients with benign thyroid nodules[(1.95±1.69 vs 1.40±1.98)mIU/L,P＜0.01].DTC patients who had lymphatic metastasis or the diameter of tumor more than 10 mm had higher serum TSH level.Serum thyrotropin is an independent risk predictor for DTC.

Objective To understand the cases of allergic shock induced by iohexol injection,analyze the characteristics of adverse drug reactions(ADRs),and identify potential influencing factors,ensureing the safety of clinical medication.Methods A literature review and bibliometric analysis were conducted on 23 cases of allergic reactions induced by iohexol injections reported in China from 2010 to 2023.Results Among the cases of allergic reactions induced by iohexol injections,17 cases(73.91% )occurred in males,while 6 cases(26.09% )occurred in females.Individuals aged from 41 to 80 years accounted for a significant proportion(82.61% ).Systemic damage was observed in 8 cases(34.78% ),neurological damage in 7 cases(30.43% ),respiratory and circulatory system damage in 5 cases(21.74% ),and skin and appendage involvement in 3 cases(13.04% ).The majority of allergic reactions had a rapid onset(72.91% ).Patients with pre-existing chronic illnesses and other medical conditions had a higher occurrence rate(82.61% ).Conclusions Iohexol injection can lead to allergic reactions influenced by multiple factors.Healthcare professionals should closely monitor adverse reactions,especially severe ones like allergic shock.

Objective To investigate the relationship between serum thyrotrophin(TSH)and dyslipidemia in subclinical hypothyroid and euthyroid subjects. Methods An epidemiological study on diabetes and thyroid diseases was performed in Dadong community, Shenyang city, in 2007. 110 subjects with subclinical hypothyroidism(SCH)and 1 240 euthyroid subjects were enrolled in the study. Neither history of thyroid diseases nor administration of thyroid-related and lipid-regulating medicines were reported in these subjects. The levels of serum thyroid hormones, lipids, fasting plasma glucose(FPG), and insulin were determined. Results (1)Patients with SCH had significantly lower HDL-C levels than those who were euthyroid.(2)According to the guideline of treatment of adult dyslipidemia in China, the lipid profiles were each categorized. Mean TSH levels were higher in subjects in the dyslipidemia subclass than subjects in the normal subclass. The differences were significant in high LDL-C subclass in overweight individuals. In euthyroid overweight women, mean TSH levels were significantly higher in high LDL-C subclass. In the euthyroid population, TSH was positively associated with total cholesterol in overweight population. The association was not modified by the homestasis model assessment for insulin resistance(HOMA-IR)values.(3)TSH was associated positively with serum triglycerides and negatively with serum HDL-C in women. TSH was positively associated with total cholesterol in overweight population and positively associated with total cholesterol and LDL-C in overweight women after adjustment for age, sex, and body mass index. Conclusion Raised serum TSH seems to be a risk factor of dyslipidemia in subclinical hypothyroid and euthyroid subjects, which is independent of insulin sensitivity.

OBJECTIVETo investigate the prevalence of thyroid diseases in a community which did not use iodized salt.

METHODSThe 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.

RESULTSThe 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%).

CONCLUSIONIn 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.

Adolescent ; Adult ; Aged ; Autoantibodies ; analysis ; China ; epidemiology ; Female ; Goiter ; epidemiology ; Health Surveys ; Humans ; Hyperthyroidism ; epidemiology ; Hypothyroidism ; epidemiology ; Iodine ; deficiency ; urine ; Male ; Middle Aged ; Prevalence ; Residence Characteristics ; Sodium Chloride, Dietary ; Thyroid Diseases ; epidemiology ; immunology ; metabolism ; Thyroid Nodule ; epidemiology

Objective To explore the relationship between serum thyrotropin and the components of metabolic syndrome.Methods A total of 1534 adult inhabitants in Dadong district of Shenyang were asked to fulfill the questionnaires and have physical examination and oral glucose tolerance test(OGTT).The vein blood was drawn to measure thyrotropin(TSH),fasting plasma glucose(FPG),OGTT 2hPG,fasting insulin,triglyceride(TG) and high density lipoprotein cholesterol(HDL-C).Results Serum TSH in the MS group was higher than in the Non-MS group(2.54 vs 2.22 mU/L,P

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.

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.

Objective:To explore effective schemes for improving cognitive function in patients with subjective cognitive decline (SCD) by EEG neurofeedback (NF) technique.Methods:Ten SCD patients recruited in Department of Neurology, Xuanwu Hospital, Capital Medical University from April 2019 to August 2019, were chosen in our study; all patients were subjected to neuro-regulation of mismatched negativity (MMN) for 5 times in 2 weeks by EEG NF technique. By using the midlines of frontal zone (Fz), central zone (Cz) and peak zone (Pz) as training electrodes, auditory tones (1000 Hz as standard stimulus, individual hearing discrimination threshold as deviation stimulus) were used to induce MMN characteristics of event-related potential (ERP) via Oddball paradigm. SCD patients received visual disc stimulation feedback with dynamic neural signal activity. ERP waveforms and standard MMN characteristics (amplitude and latency) before and after training were used to evaluate the changes in neural activity of these patients; nine N-Back working memory tasks (three types×three gradients) and hearing discrimination ability tests were used in these patients to evaluate the improvement of cognitive competence.Results:ERP analysis showed that the MMN waveforms in SCD patients after training were obviously different as compared with those before training; their standard stimulus and deviant stimulus in the point-by-point paired t-test analysis were significant different ( P<0.05). The MMN amplitudes at the Fz, Cz and Pz electrodes in these patients after training were significantly higher than those before training ( P<0.05). The accuracy of auditory tone 3-Back task in SCD patients was statistically significant before and after training ( P<0.05). Conclusion:NF based on MMN can significantly improve the MMN amplitude and accuracy of auditory working memory task in patients with SCD, which might provide a potentially effective cognitive intervention method for patients with early AD and the elderly with normal memory decline.