The challenges of androgen insensitivity syndrome

Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic syndrome that occurs as result of an androgen receptor mutation; it affects the normal masculinization process in chromosomal male patients. More than 900 androgen receptor mutations that can lead to AIS have been identified. The complete androgen insensitivity is characterized by a total lack of response to androgens, usually in patients with 46XY karyotype but with feminine phenotype. Primary amenorrhoea and inguinal swellings in female patients are the main signs that could raise suspicion for this syndrome. Patients with partial androgen insensitivity have ambiguous genitalia at birth and gynecomastia during puberty, whereas those with mild androgen insensitivity present a normal male phenotype but altered spermatogenesis during adulthood and pubertal gynecomastia. The diagnosis of AIS often proves to be a challenge; its management is complex and requires a multidisciplinary approach to meet decision-making challenges in sex assignment, fertility and timing of gonadectomy, psychological outcomes and genetic counselling.     

The effects of early pregnancy loss on health outcomes and health care utilization and costs

ObjectiveTo evaluate the effects of early pregnancy loss on subsequent health care use and costs.Data SourcesLinked administrative health databases from Manitoba, Canada.Study DesignThis was a population‐based cohort study. The exposure of interest was first recorded ectopic pregnancy or miscarriage (EPM). Outcomes included visits to all ambulatory care providers, family physicians (FPs), specialists, and hospitals, as well as the costs associated with these visits. We also assessed the impact of EPM on a global measure of health service utilization and the incidence and costs of psychotropic medications.Data Collection/Extraction MethodsWe identified women who experienced their first recorded loss (EPM) from 2003–2012 and created a propensity score model to match these women to women who experienced a live birth, with outcome measures available through 31 December 2014. We used a difference in differences approach with multivariable negative binomial models and generalized estimating equations (GEE) to assess the impact of EPM on the aforementioned health care utilization indicators.Principal FindingsEPM was associated with a short‐term increase in visits to, and costs associated with, certain ambulatory care providers. These findings were driven in large part by increased visits/costs to FPs (rate difference [RD]: $19.92 [95% CI: $16.33, $23.51]) and obstetrician‐gynecologists (OB‐GYNs) (RD $9.41 [95% CI: $8.42, $10.40]) in the year immediately following the loss, excluding care associated with the loss itself. We also detected an increase in hospital stays and costs and a decrease in the use of psychotropic medications relative to matched controls.ConclusionPregnancy loss may lead to subsequent increases in certain types of health care utilization. While the absolute costs associated with post‐EPM care are relatively small, the observed patterns of service utilization are informative for providers and policy makers seeking to support women following a loss.     

The diagnostic efficacy of diffusion tensor imaging generated by gadolinium-based magnetic resonance imaging for patients with chronic kidney disease

Background:Chronic kidney disease (CKD) can lead to systemic inflammatory responses and other cardiovascular disease. Diffusion tensor imaging findings generated by gadolinium-based MRI (DTI-GBMRI) is regarded as a standard method for assessing the pathology of CKD. To evaluate the diagnostic value of DTI-GBMRI for renal histopathology and renal efficiency, renal fibrosis and damage, noninvasive quantification of renal blood flow (RBF) were investigated in patients with CKD.Methods:CKD patients (n = 186) were recruited and underwent diagnosis of renal diffusion tensor imaging findings generated by MRI (DTI-MRI) or DTI-GBMRI to identify the pathological characteristics and depict renal efficiency. The cortical RBFs and estimated glomerular filtration rate were compared in CKD patients undergone DTI-GBMRI (n = 92) or DTI-MRI (n = 94).Results:Gadolinium enhanced the diagnosis generated by DTI-MRI in renal fibrosis, renal damage, and estimated glomerular filtration rate. The superiority in sensitivity and accuracy of the DTI-GBMRI method in assessing renal function and evaluating renal impairment was observed in CKD patients compared with DTI-MRI. Outcomes demonstrated that DTI-GBMRI had higher accuracy, sensitivity, and specificity than DTI-MRI in diagnosing patients with CKD.Conclusion:In conclusion, DTI-GBMRI is a potential noninvasive method for measuring renal function, which can provide valuable information for clinical CKD diagnosis.     

Decreased expression of claudin-18.2 in alpha-fetoprotein-producing gastric cancer compared to conventional gastric cancer

BackgroundAlpha-fetoprotein-producing gastric cancer (AFPGC) is a subtype of gastric cancer (GC) with more aggressive biological behavior. As a highly specific tight junction component exclusively present in gastric mucosa and gastric adenocarcinomas, claudin-18.2 (CLDN18.2) has become an emerging target in GC. In this study, we aimed to provide insight into AFPGC and investigate the expression and the clinical implications of CLDN18.2 in AFPGC.MethodsWe retrospectively collected 98 cases of AFPGC and reviewed their clinical, morphological, and immunohistochemical features. Another 356 patients with stage-matched conventional GC (cGC) were enrolled as a control group. We further surveyed CLDN18.2 expression by immunohistochemistry (IHC) in 51 AFPGC tissues and explained its association with the clinicopathological parameters of AFPGC.ResultsOur results showed that AFPGC was a unique GC type with elevated serum alpha-fetoprotein (AFP), which was a predictor of a worse prognosis. AFPGC showed typical morphological features and positive staining of at least 1 hepatocytic or enteroblastic marker. The expression rate of CLDN18.2 was low, with a positivity rate of 21.6%, which was much lower than that observed in cGC tissues (38.5%). A significant correlation was found between CLDN18.2 expression and the differentiation of AFPGC. CLDN18.2 expression was negatively correlated with the serum AFP level of AFPGC. We also found that AFPGC with a hepatoid type (HPT) component showed a significantly lower CLDN18.2 expression than those without.ConclusionsThis study demonstrated that CLDN18.2 was significantly decreased in AFPGC and was negatively correlated with the patient’s preoperative serum AFP level. The negative correlation between AFP and CLDN18.2 could be explained by retro-differentiation of AFPGC. Special treatment strategies might be needed for this unique tumor type.     

2型糖尿病男性患者血清骨膜蛋白水平与骨质疏松的相关性研究

目的 探索骨膜蛋白水平2型糖尿病男性患者骨质疏松的关系.方法 收集了2016年3月至2017年3月在我院门诊诊断为2型糖尿病男性病人90例,体检中心健康男性人群中随机选取30例作为正常对照组,记录患者的年龄、腹围、身高、体重,计算BMI,测定甘油三酯、总胆固醇、高密度脂蛋白、低密度脂蛋白、糖化血红蛋白,血清骨膜蛋白水平...     

抢救车分级管理方案的应用效果

目的 探讨抢救车分级管理方案的应用效果。方法 回顾性分析2018年1月至12月萍乡矿业集团有限责任公司总医院和萍乡市第二人民医院分级管理实施前71辆抢救车的使用情况,据此制订抢救车分级管理方案,并于2020年1月至12月正式投入临床应用,比较分级管理方案实施前后抢救车过期药品的损耗数量、损耗金额、抢救车管理工作总耗时及医护人员对管理方案的满意度。结果 分级管理方案实施后,抢救车药品过期数量及损耗金额均低于实施前,差异有统计学意义（P<0.05）;抢救车科室质控次数、护理部质控次数和科室护理人员质控耗时均低于实施前,差异有统计学意义（P<0.05）;共有71名医护人员参与本研究方案的满意度评价工作,分级管理方案实施后,医护人员的总满意度高于实施前,差异有统计学意义（P<0.05）。结论 抢救车分级管理方法具有临床应用价值,该方案能够减少药品损耗、提高质控工作效率,医护人员对该方案满意度较高。     

新型抗生素磷酸泰地唑胺的药理作用与临床评价

磷酸泰地唑胺(tedizolid phosphate)为新型第2代唑烷酮类抗生素,美国FDA于2014年6月20日批准其用于治疗金黄色葡萄球菌(包括耐甲氧西林菌株、甲氧西林敏感菌株)和各种链球菌属和粪肠球菌等革兰阳性细菌引起的急性细菌性皮肤和皮肤结构感染(ABSSSI)。临床研究表明,该药与利奈唑胺相比具有非劣效性,且安全性较好。本文对磷酸泰地唑胺的药理学、药动学、临床评价和安全性等作一综述。     

喉神经内分泌癌九例临床病理分析

目的 总结喉神经内分泌癌患者的临床表现、治疗方法及预后.方法 回顾性分析2005年5月至2011年6月共收治9例喉神经内分泌癌患者的临床资料,男6例,女3例;年龄35～65岁,中位年龄58岁.结果 治疗方法采取单纯手术5例,手术加术后放化疗4例.2例喉典型类癌患者随访28、30个月未复发;3例喉不典型类癌患者,其中1例在随访至36个月时复发,再次手术后已随访30个月,未见局部复发及远处转移,另2例分别随访15、20个月,均未复发;3例喉小细胞神经内分泌癌患者,1例随访18个月仍存活,另2例分别于术后11及14个月死亡;喉副神经节瘤1例,随访32个月未复发.结论 喉神经内分泌癌诊断有赖于临床特点、组织病理学及免疫组化检查.本病并无统一治疗方案,不同病理亚型的治疗方法及预后不同,对恶性程度较高的亚型主张采取以手术为主的综合治疗方案.     

喉颗粒细胞瘤的临床分析

目的:讨论喉颗粒细胞瘤的组织发生、形态学特点和生物学行为。方法:对我科收治的3例喉颗粒细胞瘤组织形态学、组织化学及免疫组织化学染色检查进行回顾性分析,并复习国内外相关文献。结果:喉颗粒细胞瘤组织学形态学特点与其他软组织颗粒细胞瘤基本一致,但50%～60%的肿瘤表面鳞状上皮呈假上皮瘤样增生,S-100呈阳性表达,该肿瘤多起源于雪旺细胞。结论:喉部颗粒细胞瘤为罕见肿瘤,多为良性,恶性少见,预后好,多采用手术治疗。