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.

Objective To investigate the effect of osimertinib combined with aspirin on the survival pe-riod of the advanced lung adenocarcinoma patients with epidermal growth factor receptor(EGFR)mutation.Methods Sixty lung adenocarcinoma patients with EGFR mutation in advanced non-small cell lung cancer(NSCLC)first diagnosed in Banan District Second People's Hospital of from August 2020 to October 2021 were selected as the study subjects and divided into the observation group and control group by the random number table method,30 cases in each group.The observation group adopted osimertinib combined with aspi-rin,and the control used osimertinib merely.The overall response rate(ORR),disease control rate(DCR),progression-free survival(PFS),overall survival(OS)and the adverse reactions occurrence were compared between the two groups.Results ORR and DCR after 3,6,12 months medication in the observation group were higher than those in the control group,but the differences were not statistically significant(P＞0.05).Compared with the control group,PFS and OS in the observation group were longer,and the differences were statistically significant[14.9(11.8,17.2)m vs.10.5(8.9,12.5)m;24.1(19.5,27.4)m vs.18.1(16.1,21.1)m,P＜0.05].In addition,PFS and OS in male and female patients with brain metastasis,EGER19 and 21 ex-on mutation in the observation group were longer than those in the control group,and the differences were statistically significant(P＜0.05).There was no statistically significant difference in overall and≥Ⅲ degree adverse reactions between the two groups(P＞0.05).Conclusion Osimertinib combined with aspirin could prolong PFS and OS of the advanced lung adenocarcinoma patients with EGFR mutation without increasing the risk of adverse reactions.

Objective To establish a Nomogram model for predicting the occurrence of stigma in elderly patients with colostomy after colorectal cancer (CRC) surgery. Methods A total of 123 elderly patients with colostomy after CRC surgery in the Northern Jiangsu People's Hospital Affiliated to Yangzhou University from June 2022 to December 2023 were selected as research objects, and they were divided into stigma group (n=62) and non-stigma group (n=61) according to the occurrence of stigma. Logistic regression analysis was used to screen risk factors, and a Nomogram was drawn and evaluated for its discrimination and consistency. Results Score of the Social Impact Scale (SIS) in 123 elderly patients with colostomy after CRC surgery ranged from 34 to 90, with an average score of (60.14±12.08) and a median score of 48. Female (95%CI, 2.467 to 20.978, P < 0.001), presence of stoma complications (95%CI, 1.766 to 10.093, P=0.001), moderate to low level of perceived social support (95%CI, 1.654 to 12.710, P=0.003), and moderate to low level of psychosocial adaptation (95%CI, 1.568 to 10.869, P=0.004) were identified as independent risk factors for stigma in elderly patients with colostomy after CRC surgery. The area under the receiver operating characteristic curve was 0.816 (95% CI, 0.744 to 0.889); the calibration curve had a slope close to 1, and the Hosmer-Lemeshow goodness-of-fit test showed better results (χ²=7.722, P=0.461). Conclusion Female, presence of stoma complications, moderate to low level of perceived social support, and moderate to low level of psychosocial adaptation are independent risk factors for stigma in elderly patients with colostomy after CRC surgery. Nomogram model established based on these factors can help identify high-risk populations for stigma, so as to obtain individualized precise intervention and reduce the incidence of stigma.

The paper reported a case of a young male patient, with graft-versus-host disease (GVHD) multi-organ involvement lesions after allo-hematopoietic stem cell transplantation. The patient had diverse clinical manifestations, and overlapping acute and chronic disease processes. Acute GVHD were mainly hyperbilirubinemia, with or without elevated transaminase, bloody watery stools; chronic GVHD were highlighted by extensive skin depigmentation, oral mucosal ulcer, sick nails, etc., and chronic signs, such as membranous nephropathy, polyserositis and pulmonary restrictive ventilatory insufficiency. The diagnosis of chronic GVHD mainly relies on medical history combined with clinical manifestations, and it's needed to exclude infections, drugs and tumors. Besides, the rate of missed diagnosis and misdiagnose is high, and it requires multidisciplinary diagnosis and treatment. Combined with the literature review, it indicates that there is a greater risk of GVHD in the male recipient with female donor, and peripheral blood stem cell transplant patients have a higher incidence than bone marrow transplant patients after hematopoietic stem cell transplantation, but the effect of the graft-versus-leukemia exists. Currently, glucocorticoids therapy with or without calcineurin inhibitors are the first-line treatment for GVHD, but the overall prognosis is poor.

Objective:To investigate the effects and potential mechanism of vitamin D supplementation on testicular function in aging rats induced by D-galactose.Methods:The aging rats were induced by D-galactose with subcutaneous injection. The animals were randomly divided into 6 groups: aging rats (DG), aging rats with low-dose vitamin D supplementation (LD), aging rats with high-dose vitamin D supplementation (HD), normal control rats(NC), normal rats with low-dose vitamin D supplementation(LN), normal rats with high-dose vitamin D supplementation (HN). The body weight, testicular weight, serum testosterone concentrations and sperm quality of the rats in each group were measured. The testis morphological changes were detected using light microscopy. The activity of superoxide dismutase (SOD) and level of malondialdehyde(MDA) were determined with spectrophotometer. The expression levels of Nrf2, GCLC, SOD2 and VDR in testis were detected by western blot.Results:At baseline, compared with NC group, testicular weight, serum testosterone level, SOD activity, Nrf2, GCLC and SOD2 expression levels were significantly decreased in DG group, while MDA level was significantly increased. After vitamin D supplementation, testicular weight, testosterone levels and SOD activity in both of HD and LD groups were significantly increased, while the MDA level was significantly decreased. The expression levels of Nrf2, GCLC, SOD2 and VDR were significantly increased.Conclusion:Vitamin D supplementation may enhance the testicular antioxidant capacity through activating Nrf2-ARE signaling pathway, and improve the testicular function in D-galactose-induced aging rats.

A case of familial hypocalciuric hypercalcemia type 1 (FHH1) was reported detailing the course of diagnosis and treatment. The main clinical manifestations of the patient were recurrent pancreatitis with moderate hypercalcemia and low urinary calcium. The C→T heterozygous missense mutation at nucleotide 2 393 with conversion of codon Pro798 to Leu (p.P155L) in CaSR gene was identified. Serum calcium and parathyroid hormone levels of the patient were decreased significantly after treatment with cinacalcet.

Objective:This study aimed to compare the detection efficacy of transrectal ultrasound-guided transrectal cognitive fusion targeted+ systematic prostate biopsy and transperineal cognitive fusion targeted + systematic biopsy in patients with suspected prostate cancer (PCa). In addition, the relative clinical characteristics of PCa were evaluated.Methods:A total of 385 patients with suspected prostate cancer in the affiliated hospital of Qingdao University from May 2019 to November 2019 were retrospectively analyzed. All patients met the prostate biopsy criterion, who underwent transrectal(n=275)and transperineal(n=110)prostate biopsy respectively. There were no significant differences of mean age [(70.7±7.3)years vs.(69.2±8.4) years], PSA [(55.12±116.96)ng/ml vs. (63.41±315.34)ng/ml], prostate volume [(55.96±35.26)ml vs. (64.35±55.99)ml] between two groups. According to preoperative prostate magnetic resonance imaging combined with intraoperative ultrasound, 2-4 needles targeted puncture of suspected lesion were performed, followed by 12 needle systematic prostate biopsy. The detection rate of prostate cancer between two biopsy ways were compared. The related factors of PCa including age, prostate volume and PSA level were collected for univariable and multivariable logistic analysis. The cancer detection rate was compared and logistic regression was used to assess the impact of patient characteristics on PCa detection.Results:For all patients, the detection rate with cancer between transrectal group and transperineal group were 121/275(40.0%) and 67/110(60.9%), respectively. The transperineal group detected a higher rate of PCa ( P=0.003)and more clinically significant prostate cancers (csPCa) (54.6% vs.36.7%, P=0.001) than that of the transrectal group, there were significant differences between two groups ( P<0.05). Univariate and multivariate logistic regression analysis revealed that PSA( OR=1.025, P=0.001) and prostate volume( OR=0.984, P=0.001)were two independent factors for the detection rate of prostate cancer between two biopsy ways( P<0.05). The effect of age on the detection rate of PCa in the transperieal group was significantly lower than that of the transrectal group( OR=0.037, P=0.238 vs. OR=0.053, P=0.002). Conclusion:The transperieal biopsy could find more PCa than the transrectal biopsy. PSA level and prostate volume could affect the detection rate of cancer between two prostate biopsy ways.

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.

Objective:To report the diagnosis, treatment, and follow-up of a 21-hydroxylase deficiency boy with central precocious puberty caused by complex heterozygous mutation of CYP21A2 gene.Methods:The child was symptomatic of rapid growth and secondary sexual characteristics at the age of 6. The diagnosis of central precocious puberty was confirmed by serum testosterone, gonadotropin levels, and gonadotropin-releasing hormone (GnRH) stimulation test. 21-hydroxylase deficiency was diagnosed clinically based on the serum adrenocorticotropic hormone (ACTH), 17-hydroxyprogesterone levels, and images on the computed comography (CT) of the adrenal glands.Results:The CYP21A2 gene was detected to have a compound heterozygous mutation by Sanger sequencing and multiplex ligation-dependent probe amplification. During the 3 years follow-up, the effects of glucocorticoids, GnRH analogs, and recombinant human growth hormone were regularly monitored and evaluated.Conclusions:Glucocorticoid replacement followed the principle of the lowest effective dose. GnRH analogs showed an effective inhibition of the hypothalamus-pituitary-gonadal axis, while recombinant human growth hormone had no such growth-promoting effect.

Three cases of Langerhans cell histiocytosis (LCH)with central diabetes insipidus as the first manifestation were reported, with the summary of their clinical manifestations, laboratory examinations, imaging examinations, pathological results, diagnosis process, and treatment response. All three patients presented with central diabetes insipidus in the early stage. The pituitary magnetic resonance imaging (MRI)showed thickened pituitary stalks, and all lost the normal high signal of the posterior pituitary. Two patients showed isolated hypothalamic-pituitary lesions, while one case showed pituitary and thyroid systems involvement. Pathological findings showed typical Langerhans cells, immunohistochemistry showed positive for S-100, CD1a, Langerin. The clinical manifestations of LCH manifested distinct heterogeneity, which is easy to be misdiagnosed and left out. The diagnosis should be confirmed by pathological examination. The biopsy of isolated hypothalamic-pituitary lesions is difficult. It is recommended to actively screen other organs to increase the probability of biopsy. LCH-induced neurohypophysis requires life-long hormone replacement therapy.