Objective To explore the clinical therapeutic effects of intravenous infusion of dihiazem in com-bination with metoprolol for treating aortic dissection. Method From June 2005 to January 2008, fourteen patients with aortic dissection (male 8, female 4) in the First Hospital of Yichang,were treated with diltiazen 1～5 μg/(kgrate 30 min,60 min, 120 min,6 h, 1 d and 7 d after treatment were recorded. All data were analyzed using self-matching t test. Results The heart rate reduced significantly 60 min after treatment. The heart rate reduced (21±5) beats/min from the baseline. The total effective rate was 100% .The blood pressure reduced significantly 30min after treatment. The systolic pressure reduced to (126.2±11.1 ) mmHg and diastolic pressure declined to (80.3±8.1) mmHg. No severe cardiac side-effect observed. Conclusions Dihiazem in combination with meto-prolol can reduce heart rate and blood pressure markedly and safely in aortic dissection patients.

Circulating tumor DNA (ctDNA) detection is one of "liquid biopsy"analysis. It has shown promising clinical application in cancer precise medicine due to its noninvasive sampling and real-time observation. Nowadays, ctDNA analysis has been clinically validated and successfully applied in advanced cancer, including selecting personalized treatment, monitoring treatment responses, minimal residual disease and recurrence. Although there has been rapidly increasing interests in ctDNA, its clinical application in cancer precise medicine is still facing few challenges, especially in screening and diagnosing cancer at early stages. Here, the latest progress in the applications and challenges of ctDNA in advancedstage tumor therapy were reviewed to provide references for future studies on ctDNA.

OBJECTIVETo detect mutation in the rhodopsin gene (RHO) in a Chinese family with autosomal dominant retinitis pigmentosa (ADRP).

METHODSA total of 25 family members from a Chinese family were investigated. All the subjects were examined clinically by direct funduscopy, perimetry and vision test. Evaluation of the proband included electroretinography (ERG). Genomic DNA was extracted using standard method. The complete coding regions of RHO were amplified by polymerase chain reaction (PCR) and the PCR products were subjected to automatic DNA sequencing.

RESULTS512 C>T (P171L), a recurrent missense mutation was detected in the proband. All 12 affected subjects in the family were heterozygous for the mutation. The affected individuals had night blindness at the age of 5-6 years. They had relatively severe impairment of visual acuity and suffered a gradual loss of peripheral visual field at the age of 20-30 years. And they went blind at the age of 40-50 years. Rod and cone ERG were not detectable in the proband.

CONCLUSIONA recurrent missense mutation, 512C>T (P171L), was detected in a Chinese family with ADRP.

Adolescent ; Adult ; Base Sequence ; China ; DNA Mutational Analysis ; Family Health ; Female ; Humans ; Male ; Middle Aged ; Mutation, Missense ; Pedigree ; Polymerase Chain Reaction ; Retinitis Pigmentosa ; genetics ; pathology ; Rhodopsin ; genetics

Binding Sites ; Cysteine Endopeptidases ; metabolism ; Humans ; Isoxazoles ; chemistry ; pharmacology ; Protease Inhibitors ; chemistry ; metabolism ; pharmacology ; Protein Structure, Tertiary ; Pyrrolidinones ; chemistry ; pharmacology ; Rhinovirus ; drug effects ; SARS Virus ; drug effects ; enzymology ; Severe Acute Respiratory Syndrome ; virology ; Viral Proteins ; antagonists & inhibitors ; metabolism

With the rapid development and adaptation of high-throughput sequencing in clinical settings, application of exome sequencing (ES) has been gradually expanded from pediatric to prenatal diagnosis in recent years. There is an urgent need to establish criteria for clinical grade ES in order to facilitate such a complex testing. The standardization of pre- and post-test consultation, quality control for sample processing process and validation of bioinformatics data analysis, and more importantly data interpretation and reporting, as well as appropriate reporting scope, is of great importance for health care stakeholders. To achieve this, a committee composed of a wide range of healthcare professionals has proposed an ES standard for prenatal diagnosis. This has provided expert opinion on the genetic counseling and reporting standards of prenatal ES for the purpose of applying ES technology in prenatal setting.

Objective:To evaluate the efficacy and safety of modified FC/ATG pretreatment in the treatment of severe aplastic anemia(SAA).Methods:From June 2012 to June 2020, clinical data of 64 patients with severe aplastic anemia undergoing allogeneic hematopoietic stem cell transplantation with modified FC/ATG(Flu 30 mg·m -2·d -l, -5~-2 d、CTX 50 mg·kg -1·d -1~-2 d、ATG: 2.5 mg·kg -1·d -1, -5~-2 d) pretreatment were retrospectively analyzed.There were MSD-HSCT ( n=29) and Haplo-HSCT ( n=35). Results:One patient died of intracerebral hemorrhage before transplantation and the remainders were completely implanted.During a median follow-up period of 14.5(1-95) months, overall survival (OS) rate of 92.2%.It was significantly higher than OS rate of 67.2% in the treatment of SAA by foreign pretreatment regimens containing low-dose TBI.And pretreatment scheme containing FC+ BU/TBI had an OS of slightly >91.3% in the treatment of SAA.The 3-year OS rates were 85.7% and 93.5% in Haplo-HSCT and MSD-HSCT groups ( P=0.058). The OS rate of SAA Haplo-HSCT/MSD-HSCT group was similar to that of " Beijing Protocol" (BU/CY+ ATG) (89%, 91%). The viral infection rates of EB and CMV were significantly higher in haplo-HSCT group than those in MSD-HSCT group and inter-group difference was statistically significant ( P<0.05). However, univariate analysis showed that two groups had no effect on survival time ( P=0.403, P=0.132). Univariate analysis showed that survival time was significantly associated with the presence of Ⅲ-Ⅳ° aGVHD and the presence of severe complications ( P=0.007, P=0.001). Further multivariate analysis revealed that severe complication was an independent risk factor for survival ( P=0.003). Conclusions:The efficacy of improved FC/ATG pretreatment in the treatment of SAA in MSD-HSCT or Haplo-HSCT is higher than other domestic and international pretreatment schemes in OS rate, safety and effectiveness.Onset of severe complication and association with Ⅲ ~ Ⅳ ° aGVHD are the influencing factors for patient survival.The efficacy of Haplo-HSCT group is similar to that of MSD-HSCT group.It may be employed as an alternative donor for SAA patients without fully congruent donors.