The diagnosis and treatment resources for rare diseases in China are highly imbalanced. The basic diagnosis and treatment capabilities are weak, the diagnosis period for patients is long, and the rates of missed diagnosis and misdiagnosis are relatively high. The establishment of a hierarchical diagnosis and treatment system is the inevitable approach to enhancing the diagnosis and treatment standards of rare diseases. Currently, the implementation of the domestic hierarchical diagnosis and treatment system for rare diseases still confronts numerous challenges, such as ambiguous referral standards and processes of primary medical institutions, and ineffective information interaction among institutions at all levels. Thus, it is essential to facilitate high-level information construction for the hierarchical diagnosis and treatment of rare diseases. This paper explores the process of constructing a multidisciplinary joint remote diagnosis and treatment platform and a health management platform through informatization, with the hope of establishing two closed loops of digital diagnosis and treatment services and health follow-up management for patients with rare diseases, as well as achieving timely diagnosis and lifelong health management for patients. It integrates and optimizes auxiliary diagnostic tools, promotes the rapid dissemination of rare disease diagnosis and treatment experiences to the grassroots, enhances the information construction level of the hierarchical diagnosis and treatment system, and endeavors to address the practical predicament of weak diagnosis and treatment capabilities of rare diseases in grassroots medical institutions. Additionally, this paper proposes an essential approach for multi-dimensional independent innovation to guide the popularization of efficient and high-quality rare disease diagnosis and treatment services. By encompassing innovating the rare disease diagnosis and treatment collaboration network and multidisciplinary diagnosis and treatment model, facilitating the application of the latest biomedical and informatics technologies to the grassroots, and constructing a national intelligent data platform for rare disease innovation, a new model for rare disease services with Chinese characteristics will be established. This will significantly enhance the medical treatment level of rare diseases in China and strive for more benefits for patients.

"The Expert Group on Tumor Ablation Therapy of Chinese Medical Doctor Association, The Tumor Ablation Committee of Chinese College of Interventionalists, The Society of Tumor Ablation Therapy of Chinese Anti-Cancer Association and The Ablation Expert Committee of the Chinese Society of Clinical Oncology" have organized multidisciplinary experts to formulate the consensus for thermal ablation of pulmonary subsolid nodules or ground-glass nodule (GGN). The expert consensus reviews current literatures and provides clinical practices for thermal ablation of GGN. The main contents include: (1) clinical evaluation of GGN, (2) procedures, indications, contraindications, outcomes evaluation and related complications of thermal ablation for GGN and (3) future development directions.
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Objective:To analyze the learning effect of laparoscopic radical cystectomy(LRC)+ modified ileal conduit(MIC).Methods:From 2014 to 2019, 42 patients underwent MIC and their clinical data was retrospectively analyzed. 34 operations were performed by surgeon 1 and 8 operations by surgeon 2. We divided the 34 patients of surgeon 1 into three groups according to their surgical sequence (group A, 1st to 12th; group B, 13th to 23th; group C, 24 th to 34 th), the 8 cases of surgeon 2 was regarded as group D. The history of abdomen surgery in the 4 groups were 0, 1, 4, 3 cases, respectively ( P<0.05). There was no significant difference of the other baseline characteristics, such as age, BMI, American Society of Anesthesiologists. Then we compared several variables between the 4 groups like operation time, time of ileal conduit construction, blood loss, complication rate, lymph node yield, surgical margin, etc. The key steps of the MIC included isolating terminal ileum when the mesentery was transilluminated, performing end-to-end reflux ureterointestinal anastomosis after the efferent loop was fixed, closing the rent of the retroperitoneum. Results:All operations were performed intracorporeally with no transition to open surgery. The operative time for group A, B, C were 330.0(320.0, 360.0)min, 300.0(250.0, 308.0)min, 270.0(216.0, 324.0)min, respectively ( P =0.010). The time of ileal conduit construction of the 3 groups were 136.5(131.3, 147.5)min, 92.0(79.0, 119.0)min, 79.0(72.0, 115.0)min, respectively ( P <0.001). In addition, the difference of the two variables above between A and B, A and C groups separately reached statistical significance ( P<0.05), while the difference between B and C groups did not ( P>0.05). Other variables, such as blood loss, complication rate, lymph node yield, surgical margin, between the 3 groups reached no statistical significance ( P>0.05). The operative time of group D was 420.0(350.0, 450.0)min, and it reached statistical significance ( P<0.05) when compared with group A. There were no significant differences in other variables, such as blood loss, complication rate, lymph node yield, surgical margin, among the 2 groups ( P>0.05). Conclusions:The learning effect of LRC+ MIC was obvious. When surgeon volume increased, the operative time decreased significantly. Variables like estimated blood loss and complication rate of the 2 surgeons did not reached significant difference, which indicated reproductivity and safety of this procedure.

The 30th International Symposium on Amyotrophic Lateral Sclerosis-Motor Neuron Disease was held in Perth, Australia from December 4 to 6, 2019. This article mainly introduces the clinical research of this meeting, including epidemiology, non-motor symptoms, auxiliary examinations and biomarkers, etc., while the basic research includes genomics and genetics, protein metabolism abnormalities, neuroimmunity and inflammation, synapse pathology and preclinical treatment strategies,

Objective:To investigate the effect of Demodex palpebralis infestation and meibomian gland dysfunction(MGD) on the incidence of recurrent corneal erosion syndrome (RCES).Methods:A case-control study was performed.Thirty eyes of 30 RCES patients were enrolled from January to June 2018 in Hanyang Hospital of Wuhan Aier Eye Hospital, and served as the RCES group.Thirty-one eyes of 31 simple ametropia patients with matched age and gender were enrolled at the same time and served as the control group.Eyelash microscopic examination was performed for Demodex counting, slit-lamp examination was performed to observe the condition of meibomian gland.Keratograph 5M examination was performed to detect the morphological changes in the meibomian glands.This study was approved by the Ethics Committee of Wuhan Aier Eye Hospital.All subjects were aware of the method and purpose of this study.Results:The average meibomian glands score was 4(3, 4) in the RCES group, which was significantly higher than 2(1, 3) in the control group (Z=-4.55, P=0.00). The average meibomian gland secretion score was 15.5(11.0, 16.8) in the RCES group, which was significantly higher than 8.0(5.5, 10.0) in the control group (Z=-3.97, P=0.00). The average Demodex numbers was 8(4, 9) and 0(0, 2) in the RCES and control groups, respectively, with a significant difference between them (Z=-4.13, P<0.00). The average Demodex infection rate was 83.3% (25/30) and 38.7% (12/31) in the RCES and the control groups, respectively (χ 2=7.60, P<0.01). The recurrence frequency showed a positive correlation with the meibomian glands scores (r s=0.70, P<0.01), meibomian gland secretion scores (r s=0.47, P=0.04) and Demodex numbers (r s=0.73, P<0.01). Conclusions:The infection rate of Demodex palpebralis and the degree of MGD are obviously elevated in RCES patients, and are associated with the relapse frequency of RCES.

A 35-year-old female patient with a history of significant epidemiological exposure firstly visited eye doctor due to acute tarsadenitis in the right eye.Subsequently, she developed subconjunctival hemorrhage, fever and cough and received topical administration of antibiotics and systemic treatment of antiviral drug.Shortly thereafter, both his mother and father, who denied COVID-19 associated epidemiological history, appeared fever, fatigue and other symptoms and diagnosed as COVID-19.This female patient was diagnosed as COVID-19 by CT image of lung and COVID-19 RNA detection 17 days and 24 days after firstly visited eye doctor, respectively, and received specialized isolation treatment.The symptoms of COVID-19 are very varied, eye doctors should keep alert and pay attention to personal protection.

The 29th International Symposium on Amyotrophic Lateral Sclerosis (ALS)?Motor Neuron Disease was held in Glasgow from December 7 to 9, 2018. The symposium was divided into 23 topics, with 109 special reports and paper′s exchange and 515 posters exchange. This article briefly introduces some topics of the symposium, involving basic researches, clinical researches and clinical trials. Among these, basic researches include genetics and genomics, axonal degeneration, disease models, and preclinical therapeutic strategies; Clinical researches include epidemiology, clinical progression, cognitive and psychological change, neuropathology, neurophysiology, neuroimaging and biomarkers.

The 29th International Symposium on Amyotrophic Lateral Sclerosis (ALS)-Motor Neuron Disease was held in Glasgow from December 7 to 9, 2018. The symposium was divided into 23 topics, with 109 special reports and paper′s exchange and 515 posters exchange. This article briefly introduces some topics of the symposium, involving basic researches, clinical researches and clinical trials. Among these, basic researches include genetics and genomics, axonal degeneration, disease models, and preclinical therapeutic strategies; Clinical researches include epidemiology, clinical progression, cognitive and psychological change, neuropathology, neurophysiology, neuroimaging and biomarkers.

OBJECTIVETo perform a prospective,multicenter,open,randomized study to determine a treatment regimen for treatment-naive patients with refractory chronic hepatitis C (RHC) using the predictive value (PV) of early virological response (EVR).

METHODSA total of 438 patients from 18 hospitals were recruited between December 2008 and December 2010 and administered peg-interferon/ribavirin treatment for 12 weeks. Patients who achieved complete EVR (cEVR) were assigned to group A for a 48-week course of treatment, while patients without cEVR were randomly allocated to either group B 1 for a 72-week course of treatment or to group B2 for a 96-week course of treatment. Serum hepatitis C virus RNA levels at baseline,treatment weeks 4, 12 and 24, end of treatment, and post-treatment week 24 were measured and used to evaluate the efficiency of therapy.

RESULTSThe overall sustained virological response (SVR) rate was 85.1%. In all, 91.0% of patients achieved cEVR and were assigned to group A, which had an SVR rate of 90.8%. There was no statistically significant difference in the SVR rates of groups B1 and B2 (29.4% vs. 25.0%, P more than 0.05). The positive PV of rapid virological response (RVR), cEVR and delayed virological response (DVR) for SVR was 93.4%, 90.8% and 77.8% respectively, and the negative PV of RVR, EVR and DVR for SVR was 28.0%, 93.3% and 100% respectively. Overall, 66.9% of the patients experienced adverse events (AEs), but only 1.9% of patients experienced sevcre AEs.

CONCLUSIONThe majority of Chinese RHC treatmentna(i)ve patients (91.0%) can achieve cEVR and a high SVR rate with a low rate of severe AEs using the cEVR guided personal treatment regimen.

Hypoxia-inducible factor-1 (HIF-1) is a key transcription factor on hypoxia responses in mammalian tissues. HIF-1 plays as a positive factor in solid tumor and leads to hypoxia-driven responses that enhance its downstream gene expression for tumor growth and survival. LXY6099 was obtained by the structural modification and optimization of manassantin A (MA) as a high potent HIF-1 inhibitor. Antitumor activity of LXY6099 was observed in this study. LXY6099 with an IC50 value of 2.46 x 10(-10) mol x L(-1) showed more sensitive inhibition activity to HIF-1 than that of MA detected by reporter gene assay (> 100 folds). It showed strong inhibition on the growth of human solid tumor cell lines. Furthermore, LXY6099 exhibited significant antitumor activity against established human tumor xenografts in nu/nu mice with treatment of MX-1 breast cancer. Thus, LXY6099 as a novel HIF-1 inhibitor could be further developed into anti-cancer agents.