Achondroplasia (ACH) is a common inherited skeletal dysplasia (inherited dwarfism) that compromises quality of life across the lifespan. In 2021, vosoritide became the first approved precision therapy for ACH and is now available in more than 40 countries. Compared with prior symptomatic measures, vosoritide has demonstrated favorable efficacy and a reassuring safety profile. Nevertheless, existing international ACH guidelines largely emphasize complication management and symptomatic care, and there is no unified consensus on pharmacologic therapy. To address this gap, an international expert group developed the International Consensus Guidelines for the Implementation and Monitoring of Vosoritide Therapy in Patients with Achondroplasia providing systematic recommendations that span the continuum of care - from initial patient contact and pre-treatment assessment to medication counseling, injection training, and long-term outcome monitoring. These recommendations complement and refine current management and nursing protocols for individuals with ACH and offer practical guidance for clinicians across diverse regions. This article highlights key elements of the guideline to provide evidence-based support and clinical direction for healthcare professionals in China treating children with ACH using vosoritide.
Humans ; Achondroplasia/drug therapy* ; Consensus ; Practice Guidelines as Topic ; Child

Objective To observe CT and MRI manifestations of gastritis cystica profunda(GCP).Methods Seventeen patients with GCP confirmed by operation or biopsy pathology were enrolled,and lesions'CT and MRI manifestations were observed.Results Among 17 cases,16 cases(16/17,94.12％)were found with single lesion and 1(1/17,5.88％)with diffuse multiple lesions.The lesion located in the fundus of stomach in 5 cases(5/17,29.41％),in the body of stomach in 4 cases(4/17,23.53％),in the cardia and antrum of stomach each in 3 cases(3/17,17.65％)and in the pylorus in 1 case(1/17,5.88％),while 1 case(1/17,5.88％)was found with diffused multiple lesions within stomach.Non-enhance CT showed local thickening of gastric wall in 10 cases(10/17,58.82％),all were isodensities,and the mucosa uniformly enhanced in contrast enhance CT(CECT).Predominately cystic lesion in 5 cases(5/17,29.41％)presented as submucosal cystic protrusions,and grew into the stomach cavity with circular or oblong low density in non-enhanced CT,while sandwich enhancement of mucosa was observed in CECT.Among these 5 cases(5/17,29.41％),MRI showed lesion confined to the submucosa with low signal on T1WI and high signal on T2WI,while diffusion weighted imaging showed unrestricted diffusion,and the enhancement pattern was consistent with that of CT in 2 cases.In other 2 cases(2/17,11.77％)with cystic-solid lesion,non-enhanced CT showed soft tissue density,while CECT showed lump-like stratified enhancement.Conclusion CT and MRI manifestations of GCP had certain characteristics.

Objective To observe CT and MRI manifestations of gastritis cystica profunda(GCP).Methods Seventeen patients with GCP confirmed by operation or biopsy pathology were enrolled,and lesions'CT and MRI manifestations were observed.Results Among 17 cases,16 cases(16/17,94.12％)were found with single lesion and 1(1/17,5.88％)with diffuse multiple lesions.The lesion located in the fundus of stomach in 5 cases(5/17,29.41％),in the body of stomach in 4 cases(4/17,23.53％),in the cardia and antrum of stomach each in 3 cases(3/17,17.65％)and in the pylorus in 1 case(1/17,5.88％),while 1 case(1/17,5.88％)was found with diffused multiple lesions within stomach.Non-enhance CT showed local thickening of gastric wall in 10 cases(10/17,58.82％),all were isodensities,and the mucosa uniformly enhanced in contrast enhance CT(CECT).Predominately cystic lesion in 5 cases(5/17,29.41％)presented as submucosal cystic protrusions,and grew into the stomach cavity with circular or oblong low density in non-enhanced CT,while sandwich enhancement of mucosa was observed in CECT.Among these 5 cases(5/17,29.41％),MRI showed lesion confined to the submucosa with low signal on T1WI and high signal on T2WI,while diffusion weighted imaging showed unrestricted diffusion,and the enhancement pattern was consistent with that of CT in 2 cases.In other 2 cases(2/17,11.77％)with cystic-solid lesion,non-enhanced CT showed soft tissue density,while CECT showed lump-like stratified enhancement.Conclusion CT and MRI manifestations of GCP had certain characteristics.

ObjectiveTo investigate the impact of icariin （ICA） on autophagy in glucocorticoid-induced bone microvascular endothelial cells （BMECs） mediated by the phosphatidylinositol 3-kinase/protein kinase B/mammalian target of rapamycin （PI3K/Akt/mTOR） signaling pathway. MethodBMECs were isolated and cultured from femoral heads obtained during total hip arthroplasty and identified using immunofluorescence staining. The experimental cells were divided into four groups： A control group， a glucocorticoid group （100 mg·L^-1 hydrocortisone）， an ICA group （100 mg·L^-1 hydrocortisone+6.7×10^-3 mg·L^-1 ICA）， and a Rapamycin group （100 mg·L^-1 hydrocortisone+6.7×10^-3 mg·L^-1 ICA+1 mg·L^-1 rapamycin）. Autophagy in BMECs was induced using 100 mg·L^-1 hydrocortisone. LC3 fluorescence staining was used to observe the peak of autophagy at different time points. Western blot analysis was employed to analyze the expression of autophagy-related proteins and PI3K/Akt/mTOR pathway proteins in each group. Electron microscopy was used to observe autophagosomes and autolysosomes in the cells. ResultHydrocortisone at 100 mg·L^-1 induced autophagy in BMECs， reaching a peak at around 5 hours， which then declined with further intervention. Compared to the control group， the glucocorticoid group showed cell membrane damage， disordered organelle arrangement， and a large number of autophagosomes and autolysosomes. Compared to the glucocorticoid group， the ICA group had more intact cell membranes， sparser organelle arrangement， and fewer autophagosomes and autolysosomes. Compared to the ICA group， the Rapamycin group showed cell membrane damage， disordered organelle arrangement， and more autophagosomes and autolysosomes. Compared to the control group， the glucocorticoid group had significantly increased expression of light chain 3B （LC3B）， Atg4B， and p62 （P<0.01）. Compared to the glucocorticoid group， the ICA group showed significantly decreased expression of LC3B， Atg4B， p62， and Beclin-1 （P<0.01）. Compared to the ICA group， the Rapamycin group had significantly increased expression of Atg4B and p62 （P<0.01）. Compared to the control group， the glucocorticoid group had significantly decreased expression of p-PI3K/PI3K， p-Akt/Akt， and p-mTOR/mTOR （P<0.01）. Compared to the glucocorticoid group， the ICA group showed significantly increased expression of p-PI3K/PI3K， p-Akt/Akt， and p-mTOR/mTOR （P<0.01）. Compared to the ICA group， the Rapamycin group had significantly decreased expression of p-PI3K/PI3K， p-Akt/Akt， and p-mTOR/mTOR （P<0.01）. Ubiquitination levels were significantly decreased in the glucocorticoid group compared to the control group （P<0.01）. Compared to the glucocorticoid group， ubiquitination levels were significantly increased in the ICA group （P<0.01）， and significantly decreased in the Rapamycin group compared to the ICA group （P<0.01）. ConclusionThe glucocorticoid-induced autophagy in BMECs is time-dependent. ICA inhibits glucocorticoid-induced autophagy in BMECs， and this effect may be related to the regulation of the PI3K/Akt/mTOR pathway.

BACKGROUND: Since the diagnostic value of aldosterone to renin ratio (ARR) calculated by plasma renin concentration (PRC) or plasma renin activity (PRA) is still inconclusive, we conducted a meta-analysis by systematically reviewing relevant literature to explore the difference in the diagnostic efficacy of ARR calculated by PRC or PRA, so as to provide guidance for clinical diagnosis. METHODS: We searched PubMed, Embase, and Cochrane Library from the establishment of the database to March 2021. We included studies that report the true positive, false positive, true negative, and false negative values for the diagnosis of primary aldosteronism, and we excluded duplicate publications, research without full text, incomplete information, or inability to conduct data extraction, animal experiments, reviews, and systematic reviews. STATA 15.1 was used to analyze the data. RESULTS: The pooled results showed that ARR (plasma aldosterone concentration [PAC]/PRC) had a sensitivity of 0.82 (95% confidence interval [CI]: 0.78-0.86), a specificity of 0.94 (95% CI: 0.92-0.95), a positive-likelihood ratio (LR) of 12.77 (95% CI: 7.04-23.73), a negative LR of 0.11 (95% CI: 0.07-0.17), and symmetric area under the curve (SAUC) of 0.982, respectively. Furthermore, the diagnostic odds ratio (DOR) of ARR (PAC/PRC) was 180.21. Additionally, the pooled results showed that ARR (PAC/PRA) had a sensitivity of 0.91 (95% CI: 0.86-0.95), a specificity of 0.91 (95% CI: 0.90-0.93), a positive LR of 7.30 (95% CI: 2.99-17.99), a negative LR of 0.10 (95% CI: 0.04-0.26), and SAUC of 0.976, respectively. The DOR of ARR (PAC/PRA) was 155.52. Additionally, we conducted a subgroup analysis for the different thresholds (<35 or ≥35) of PAC/PRC. The results showed that the DOR of the cut-off ≥35 groups was higher than the cut-off <35 groups (DOR = 340.15, 95% CI: 38.32-3019.66; DOR = 116.40, 95% CI = 23.28-581.92). CONCLUSIONS The research results suggest that the determination of ARR (PAC/PRC) and ARR (PAC/PRA) was all effective screening tools for PA. The diagnostic accuracy and diagnostic value of ARR (PAC/PRC) are higher than ARR (PAC/PRA). In addition, within a certain range, the higher the threshold, the better the diagnostic value.
Aldosterone ; Area Under Curve ; Humans ; Hyperaldosteronism/diagnosis* ; Hypertension ; Renin

Small intestine

A novel coronavirus pneumonia (NCP) epidemic has occurred in Wuhan, Hubei Province since December 2019, caused by a novel coronavirus (2019-nCoV) never been seen previously in human. China has imposed the strictest quarantine and closed management measures in history to control the spreading of the disease. However, severe trauma can still occur in the NCP patients. In order to standardize the emergency treatment and the infection prevention and control of severe trauma patients with hidden infection, suspected or confirmed infection of 2019-nCoV, Trauma Surgery Branch of Chinese Medical Doctors' Association organized this expert consensus. The consensus illustrated the classification of the NCP patients, severe trauma patients in need of emergency surgery, emergency surgery type, hierarchical protection for medical personnel and treatment places. Meanwhile, the consensus standardized the screening, injury severity evaluation, emergency surgical treatment strategy and postoperative management strategy of severe trauma patients during the epidemic period of NCP, providing a basis for the clinical treatment of such kind of patients.

The novel coronavirus pneumonia (NCP) has cost a great loss to the health and economic property of Chines people. Under such a special circumstance, how to deal with such patients with acute aortic syndrome has become a serious challenge. Rapid diagnosis of concomitant NCP, safe and effective transportation, implementation of the interventional procedure, protection of vascular surgical team and postoperative management and follow-up of such patients have become urgent problems for us. Combined with the latest novel government documents, the literature and the experiences from Wuhan, we answered the above questions briefly and plainly. It also hopes to inspire the national vascular surgeons to manage critical emergencies in vascular surgery and even routine vascular diseases with NCP, as a final point to limit the severe epidemic situation, and minimize the damage of NCP.

Cytochrome P450 1A (CYP1A), one of the major CYP subfamily in humans, not only metabolizes xenobiotics including clinical drugs and pollutants in the environment, but also mediates the biotransformation of important endogenous substances. In particular, some single nucleotide polymorphisms (SNPs) for genes may affect the metabolic ability of endogenous substances, leading to some physiological or pathological changes in humans. This review first summarizes the metabolism of endogenous substances by CYP1A, and then introduces the research progress of SNPs, especially the research related to human diseases. Finally, the relationship between SNPs and diseases is discussed. In addition, potential animal models for gene editing are summarized. In conclusion, CYP1A plays an important role in maintaining the health in the body.

The 2019 coronavirus disease(COVID-19) has cost a great loss to the health and economic property of Chines people. Under such a special circumstance, how to deal with such patients with acute aortic syndrome has become a serious challenge. Rapid diagnosis of concomitant COVID-19, safe and effective transportation, implementation of the interventional procedure, protection of vascular surgical team and postoperative management and follow-up of such patients have become urgent problems for us. Combined with the latest novel government documents, the literature and the experiences from Wuhan, we answered the above questions briefly and plainly. We also hope to inspire the national vascular surgeons to manage critical emergencies in vascular surgery and even routine vascular diseases with COVID-19, as a final point to limit the severe epidemic situation, and minimize the damage of COVID-19.