Objective:Through comprehensive analysis of symptoms and signs, biochemistry, imaging, and dynamic tests, to explore the diagnosis and differential diagnosis of thyrotropin-secreting pituitary adenoma(TSH adenoma) and syndrome of resistance to thyroid hormone(RTH).Methods:A retrospective analysis was conducted on clinical data from 14 patients who visited the First Affiliated Hospital of Zhengzhou University from July 2016 to September 2022, exhibiting elevated levels of free thyroxine(FT4) and free triiodothyronine(FT3) in the presence of increased TSH.Results:There were 7 cases of TSH adenoma and 7 cases of RTH, with the average age of diagnosis at 40.0 years and 26.6 years, respectively. Thirteen patients showed thyrotoxicosis or occasional palpitation, some with pituitary occupancy manifestations or abnormal growth and development; One patient presented with neck thickening. Sex hormone binding globulin was elevated in 3 cases of TSH adenoma. Pituitary magnetic resonance imaging showed that all 7 cases of TSH adenoma were macroadenomas and 1 case of RTH was microadenoma. The octreotide suppression test in 13 patients was inhibited, but there was a significant difference in the inhibition rate of 24 h/2 h TSH inhibition rate of TSH adenoma and RTH, ranging from 46.6% to 83.9% and 4.6% to 28.8% respectively. Six cases of RTH had thyroid hormone receptor β mutation.Conclusion:Syndrome of inappropriate secretion of thyrotropin is a rare condition, mainly including TSH adenoma and RTH. The diagnosis and differentiation of the two conditions require comprehensive assessment incorporating family history, symptoms and signs, laboratory tests, dynamic test, and genetic test. Among these, the 24 h/2 h TSH inhibition rate of octreotide suppression test can effectively distinguish TSH adenoma from RTH.

This article presents a case of primary hypomagnesemia with secondary hypocalcemia in an adult. The patient′s medical history and treatment were reviewed. Following oral magnesium supplementation, the patient′s clinical symptoms improved and the blood magnesium level increased. This report aims to raise clinical awareness of primary hypomagnesia with secondary hypocalcemia.

Objective:To summarize the clinical manifestations and molecular genetic characteristics of 5 families with maturity-onset diabetes mellitus of the young 2 (MODY2) caused by glucokinase (GCK) gene mutations.Methods:Clinical data and biochemical results of probands were collected. Peripheral blood samples of probands and first-degree family members were collected and whole exome gene was detected using second-generation sequencing. After comparing against the database, the suspected pathogenic sites were selected for Sanger sequencing verification.Results:All the 5 probands presented with mild fasting hyperglycemia, HbA 1C<7.5%, and no symptoms of thirst, polydipsia or polyuria. There were 6 mutants in 5 families, including M1: c.555delT (P.leu186CysFS Ter19) and M3: c. 263T>A (p.Met88Lys) which haven′t been reported before. During the follow-up, all probands received life-style intervention, except 2 pregnant women who should consider insulin treatment if necessary according to fetal genotypes. Conclusion:Among patients who meet the diagnostic criteria for MODY, MODY2 screening should be performed for children or pregnant women with mild hyperglycemia and family history. GCK gene detection is the gold standard for diagnosis, and accurate diagnosis will be conducive to the selection of appropriate treatment.

The data of 10 patients with pituitary metastases were retrospectively analyzed, including tumor origin, clinical features, imaging characteristics, diagnosis and differential diagnosis, treatment and prognosis. The results showed that the average age of 10 patients at the time of consultation was 62.0 years. Nine metastases were originated from lung cancer and one from breast cancer. All patients started with central diabetes insipidus, and some of them accompanied with hypopituitarism, as well as occupancy manifestations such as headache, blurred vision, etc. MRI showed abnormalities in the pituitary stalk and posterior pituitary, four of which showed characteristic " dumbbell-shaped" changes. Three patients with epidermal growth factor receptor(EGFR)-mutated lung adenocarcinoma revealed improvement in both primary lesion and pituitary metastases after targeted therapy.

The purpose of this study was to improve the ability to visualize and diagnose congenital nephrogenic diabetes insipidus (CNDI). The clinical manifestations, laboratory examination findings, imaging features and treatment outcomes of 22 patients with CNDI admitted to the First Affiliated Hospital of Zhengzhou University from May 2013 to May 2020 were retrospectively analyzed. Among the 22 patients with CNDI, 86.4% (19 cases) were male. The age of the 22 patients ranged from 2 months to 47 years old, in which 20 cases were younger than 30 years old and 2 cases were older than 30 years old. The clinical manifestations were polydipsia and polyuria, accompanied with various degrees of fever, defects in growth and development, and increased serum creatinine in some patients. Fifteen patients (68.2%) had different degrees of bilateral kidney and ureteral hydronephrosis, and increased residual urine volume in the bladder. Pituitary magnetic resonance imaging (MRI) enhanced scan showed that the high signal intensity in the posterior pituitary lobe was not detectable in 5 cases (22.7%), and blurred in 6 cases (27.3%). Seven tested patients were all found AVPR2 gene mutation. For patients with suspected CNDI, water-inhibiting vasopressin test and genetic testing should be performed in time so as to confirm diagnosis and treat as early as possible.

Objective: To examine associations of 25-hydroxyvitamin D [25(OH)D] concentrations with sex hormone levels and cardiovascular risk factors. Methods: A total of 697 male subjects were obtained from the thyroid disorders, lodine status and diabetes: a national epidemiological survey-2014 (TIDE) research--Henan sub-center survey through multistage stratified cluster random sampling from December 2015 to March 2016. The associations between 25(OH)D and sex hormones or cardiovascular risk factors were analyzed by linear regression analyses. Results: The age of the subjects was (46.6±15.9) years (19-85 years). Proportions of vitamin D deficient, vitamin D intermediate and vitamin D optimal were 9.3%, 13.1% and 77.6%, respectively. More subjects with vitamin D deficient were in urban area than in rural area (13.3% vs. 5.7%, P=0.001). After fully adjusting for age, residence area, economic status, education, body mass index, waist circumference, homeostasis model assessment of insulin resistance (HOMA-IR), hypertension, diabetes, triglyceride, high-density lipoproteincholesterol, total cholesterol, low-density lipoprotein cholesterol and uric acid, linear regression analyses showed that every 25 nmol/L increase in 25(OH)D levels increased lg FT(FT=free testosterone) by 0.013ng/L (β=0.013, P=0.036), lg DHT (DHT=dihydrotestosterone) by 0.030 ng/L (β=0.030, P=0.019), and lg AD (AD=androstenedione) by 0.019 μg/L (β=0.019, P=0.008). After fully adjusting for age, residence area, economic status and education, every 25 nmol/L increase in 25(OH)D levels lowered glycosylated hemoglobin A1c (HbA1c) by 0.051% (β=-0.051, P=0.027). Conclusions Higher 25(OH)D concentrations in men were associated with higher FT, DHT, AD and lower HbA1c levels.

To examine associations of 25?hydroxyvitamin D [25(OH)D] concentrations with sex hormone levels and cardiovascular risk factors. Methods A total of 697 male subjects were obtained from the thyroid disorders, lodine status and diabetes: a national epidemiological survey?2014 (TIDE) research??Henan sub?center survey through multistage stratified cluster random sampling from December 2015 to March 2016. The associations between 25(OH)D and sex hormones or cardiovascular risk factors were analyzed by linear regression analyses. Results The age of the subjects was (46.6 ± 15.9) years (19?85 years). Proportions of vitamin D deficient, vitamin D intermediate and vitamin D optimal were 9.3%, 13.1% and 77.6%, respectively. More subjects with vitamin D deficient were in urban area than in rural area (13.3% vs. 5.7%, P=0.001). After fully adjusting for age, residence area, economic status, education, body mass index, waist circumference, homeostasis model assessment of insulin resistance (HOMA?IR), hypertension, diabetes, triglyceride, high?density lipoproteincholesterol, total cholesterol, low?density lipoprotein cholesterol and uric acid, linear regression analyses showed that every 25 nmol/L increase in 25(OH)D levels increased lg FT(FT=free testosterone) by 0.013ng/L (β=0.013, P=0.036), lg DHT (DHT=dihydrotestosterone) by 0.030 ng/L (β=0.030, P=0.019), and lg AD (AD=androstenedione) by 0.019 μg/L (β=0.019, P=0.008). After fully adjusting for age, residence area, economic status and education, every 25 nmol/L increase in 25(OH)D levels lowered glycosylated hemoglobin A1c (HbA1c) by 0.051% (β=-0.051, P=0.027). Conclusions Higher 25(OH)D concentrations in men were associated with higher FT, DHT, AD and lower HbA1c levels.

A mangiferin aglycon derivative J99745 has been identified as a potent xanthine oxidase (XOD) inhibitor by previous study. This study aimed to evaluate the hypouricemic effects of J99745 in experimental hyperuricemia mice, and explore the underlying mechanisms. Mice were orally administered 600 mg/kg xanthine once daily for 7 days and intraperitoneally injected 250 mg/kg oxonic acid on the 7th day to induce hyperuricemia. Meanwhile, J99745 (3, 10, and 30 mg/kg), allopurinol (20 mg/kg) or benzbromarone (20 mg/kg) were orally administered to mice for 7 days. On the 7th day, uric acid and creatinine in serum and urine, blood urea nitrogen (BUN), malondialdehyde (MDA) content and XOD activities in serum and liver were determined. Morphological changes in kidney were observed using hematoxylin and eosin (H&E) staining. Hepatic XOD, renal urate transporter 1 (URAT1), glucose transporter type 9 (GLUT9), organic anion transporter 1 (OAT1) and ATP-binding cassette transporter G2 (ABCG2) were detected by Western blot and real time polymerase chain reaction (PCR). The results showed that J99745 at doses of 10 and 30 mg/kg significantly reduced serum urate, and enhanced fractional excretion of uric acid (FEUA). H&E staining confirmed that J99745 provided greater nephroprotective effects than allopurinol and benzbromarone. Moreover, serum and hepatic XOD activities and renal URAT1 expression declined in J99745-treated hyperuricemia mice. In consistence with the ability to inhibit XOD, J99745 lowered serum MDA content in hyperuricemia mice. Our results suggest that J99745 exerts urate-lowering effect by inhibiting XOD activity and URAT1 expression, thus representing a promising candidate as an anti-hyperuricemia agent.

The process of intervertebral disc degeneration,which could result in intervertebral disc structural and functional change,is a chronic one with multiple factors.The pathophysiologic process is still not completely find out.More and more research reports manifest that certain gene polymorphism also lead to increased risk of intervertebral disc degeneration except environmental factors.Discussions about related genetic factors and their pathophysiological role in the process of degeneration could have a further understanding to disease development.Elucidating genetic components which are associated with degeneration could not only provide insights into the mechanism of the process,but also have clinical significance for early diagnosis and prevention.In order to have a thorough understanding of functional role played by different genes,this paper summarize polymorphism and disease correlation by selecting 15 genes after reviewed the related literature published in recent years.Genetic polymorphisms in 15 genes have been analyzed in association with intervertebral disc degeneration,including aggrecan,collagen Types Ⅰ,Ⅸ and Ⅺ,fibronectin,HAPLN 1,CILP,MMP-1,2 and 3,PARK2,IL-1,6 and VDR.Each genetic polymorphism codes for a protein which has a functional role in the pathogenesis of disease.Among the 15 genes analyzed,polymorphisms in aggrecan,Type Ⅸ collagen,MMP3,IL1,IL6 and VDR show the most promise as functional variants.Genetic studies are necessary for understanding the mechanism of the degeneration.Relevant genetic information could be used as a predictive model for determining individuals' risk for intervertebral disc degeneration eventually.

ObjectiveTo analyze and compare the difference and prognosis between vascular embolization and craniotomy occlusion in patients suffering from aneurysmal subarachnoid hemorrhage (aSAH) with Hunt-Hess levelⅢ-Ⅳ, and acute postoperative hydrocephalus.Methods A retrospective study was conducted on 767 patients who had undergone vascular embolization (vascular embolization group,n = 403) or craniotomy occlusion operation (craniotomy occlusion operation group,n = 364), and the patients with postoperative acute hydrocephalus were screened. The clinical data of patients of both groups was analyzed. By judging short-term prognosis in patients with hydrocephalus with Glasgow outcome scale (GOS) score estimated at discharge, the advantages and disadvantages of two surgical procedures were compared.Results The number of cases with postoperative hydrocephalus in vascular embolization group was 56 (13.90%), while that in craniotomy occlusion group was 33 (9.07%). The difference between the two groups of incidence of hydrocephalus was statistically significant (χ2= 4.350,P = 0.037 ). In 767 patients with aSAH, the incidence of hydrocephalus among the patients after the hematoma removal operation was significantly lower than that of patients without hematoma removal [3.07% (11/358) vs. 19.07% (78/409),χ2 = 47.635,P = 0.000]. The incidence of hydrocephalus among the patients after ventricular drainage was significantly lower than that of patients without the drainage [2.77% (19/685) vs. 85.37% (70/82),χ2 = 487.032,P = 0.000]. In 403 cases of vascular embolization group, the incidence of hydrocephalus in the patients after the hematoma removal operation was lower than that of patients without it [8.06% (5/62) vs. 14.96% (51/341),χ2 = 2.082,P = 0.168]. The incidence of hydrocephalus in the patients after the ventricular drainage was lower than that of patients without drainage [2.59% (9/347) vs. 83.93% (47/56),χ2 = 266.599,P = 0.000]. In 364 cases of craniotomy occlusion operation group, the incidence of hydrocephalus in the patients after hematoma removal operation was significantly lower than that of patients did not receive [2.03% (6/296) vs. 39.71% (27/68),χ2 = 95.226,P = 0.000]. The incidence of hydrocephalus among the patients after the ventricular drainage was significantly lower than that of patients without drainage [2.96% (10/338) vs. 88.46% (23/26),χ2 = 203.852,P = 0.000]. The difference in incidence of hydrocephalus between the patients who had hematoma removal surgery between vascular embolization group and craniotomy occlusion operation group was statistically significant [8.06% (5/62) vs. 2.03% (6/296),χ2 = 4.411,P = 0.027], while no statistically difference was present in ventricular drainage patients [2.59% (9/347) vs. 2.96% (10/338),χ2 = 0.085,P = 0.819]. There were 23 patients (41.07%) with good outcome (GOS score 4-5), while 33 (58.93%) with poor outcome (GOS score 1-3) in 56 patients undergone vascular embolization operation. Good result (GOS score 4-5) was shown in 21 (63.64%) and 12 (36.36%) with poor outcome (GOS score 1-3) among 33 patients with hydrocephalus after craniotomy occlusion operation, and the difference was statistically significant (χ2 = 4.230,P = 0.039).Conclusions Hematoma is one of the main factor contributing to the differences in the incidence of postoperative hydrocephalus of Hunt-Hess gradeⅢ-Ⅳ patients either receiving vascular embolization or craniotomy occlusion operation. Lateral ventricle drainage may not be the factor that contributes to the difference in incidence of hydrocephalus formation between the vascular embolization and craniotomy occlusion operation groups in Hunt-Hess levelⅢ-Ⅳ patients. The short term prognosis in the craniotomy occlusion operation group is superior to that of endovascular intervention embolization group.