Objective To investigate a Chinese pedigree suffering from Leydig cell hypoplasia ( LCH) based on clinical data and genetic diagnosis. Methods The patient was diagnosed by means of clinical data, hormone profiles, and human chorionic gonadotropin ( hCC) test. The luteinizing hormone/chorionic gonadotropin receptor(LHCGR) gene of the patient and family members was amplified and sequenced. Results The patient presented with male pseudohermaphroditism, low level of testosterone, which did not respond to hCG. Genetic analysis of the LHCGR revealed two novel mutations: a missense mutation located in exon 5, resulting in Ile replaced by Thr in the extracellular domain; and a splice site mutation in the 3' terminal of intron 6( IVS6-3 C→A). Proband's sister (46, XX) who lacked clinical manifestations showed the identical genotype with the patient. Conclusions A mutation in the consensus sequence of 3' splice site, in addition to a missense mutation (Ile 152Thr)in the extracellular ligand-binding domain is the cause of inactivation of the LHCGR gene in patient with Leydig cell hypoplasia.

Objective Differences in the activated coagulation time (ACT) during ablation and adequate heparin dosing were observed among atrial fibrillation (AF) patients undergoing AF catheter ablation receiving different anticoagulation therapies and the suitable heparin dosing during ablation among patients treated with different anticoagulation therapies was explored. Methods Patients who received warfarin (n=100), low?molecular?weight heparin (n=100), dabigatran etexilate (n=98, 110 mg, Bid) and rivaroxaban (n=48, 20 mg, Qd) were included. All of them underwent the first AF ablation during January 2016 to December 2017 and patients with hepatic and renal dysfunction were excluded. Initial bolus heparin (100 U/kg, intravenous) was applied to all patients. Additional heparin dosage was added according to the ACT, which was measured in 15?minute interval to maintain the ACT within 250-350 seconds until the end of ablation. Patient characteristics, ACT and complications were compared among various groups. Results The baseline general characteristics among patients were similar. The baseline ACTs in the dabigatran groups were significantly longer than those in the rivaroxaban group ((133±36) seconds vs. (113±22) seconds, P<0.05). The 15 min ACT in the warfarin group was longer than in the dabigatran group ((259 ± 56) seconds vs. (243 ± 43) seconds, P<0.05). The 15?minute ACTs were significantly longer in the warfarin ((259 ± 56) seconds) and dabigatran ((243±43) seconds) groups compare with low?molecular?weight heparin group ((224± 40) seconds) and rivaroxaban group ((226±32) seconds) (all P<0.05). The same trend was also observed in the rate of reaching ACT goal after initial?standard?dosage of heparin (warfarin (53%, 53/100), dabigatran (45%,44/98),low?molecular?weight heparin (28%,28/100), rivaroxaban (23%,11/48), P<0.05). The 1 hour ACT in the warfarin group ((254 ± 49) seconds) was significantly longer than the other three groups (dabigatran (233 ± 33) seconds, low?molecular?weight heparin (226 ± 34) seconds, rivaroxaban (231 ± 30) seconds, all P<0.01). The rate of reaching ACT goal at 1 hour were significantly higher in the warfarin group (66%,35/53) than in the dabigatran group (41%,18/44), and rivaroxaban group (27%,3/11) (all P<0.05). The total heparin required was significantly higher in rivaroxaban group than in the dabigatran and warfarin groups (all P<0.05). During the perioperative period, no patient exhibited any thromboembolic complications, and only a few minor bleeding complications was observed among patients, which was similar between the four groups (P>0.05). Conclusion Higher dosage of heparin is required during AF ablation to achieve the satisfactory anticoagulant intensity for AF patients under dabigatran etexilate (110 mg, Bid), low?molecular?weight heparin and rivaroxaban (20 mg, Qd) anticoagulation therapy before AF ablation.

Objective To explore the effects of bundle care on preventing cannula dislocation for tracheotomy in patients with inhalation injury. Methods Totally 51 patients who received tracheotomy in the First Affiliated Hospital of PLA General Hospital between January 2010 and December 2014 were selected as a control group, while another 36 patients with inhalation injury who were admitted and received tracheotomy from January 2015 to May 2017 were selected as an observation group. Patients in the control group received conventional nursing after tracheotomy, while patients in the observation group received safely managed bundle care on the basis of conventional nursing. The incidence of unanticipated cannula dislocation after tracheotomy and before extubation were then observed between the patients in the two groups. Results The incidence of unanticipated cannula dislocation of the patients in the observation group and the control group was 2.8% (1/36) and 19.6% (10/51), respectively (χ2=5.412,P< 0.05). Conclusions Bundle care, when applied in the management of cannula for tracheotomy in patients with inhalation injury, can reduce the incidence of unanticipated cannula dislocation.

Objective: Differences in the activated coagulation time (ACT) during ablation and adequate heparin dosing were observed among atrial fibrillation (AF) patients undergoing AF catheter ablation receiving different anticoagulation therapies and the suitable heparin dosing during ablation among patients treated with different anticoagulation therapies was explored. Methods: Patients who received warfarin (n=100), low-molecular-weight heparin (n=100), dabigatran etexilate (n=98, 110 mg, Bid) and rivaroxaban (n=48, 20 mg, Qd) were included. All of them underwent the first AF ablation during January 2016 to December 2017 and patients with hepatic and renal dysfunction were excluded. Initial bolus heparin (100 U/kg, intravenous) was applied to all patients. Additional heparin dosage was added according to the ACT, which was measured in 15-minute interval to maintain the ACT within 250-350 seconds until the end of ablation. Patient characteristics, ACT and complications were compared among various groups. Results: The baseline general characteristics among patients were similar. The baseline ACTs in the dabigatran groups were significantly longer than those in the rivaroxaban group ((133±36) seconds vs. (113±22) seconds, P<0.05). The 15 min ACT in the warfarin group was longer than in the dabigatran group ((259±56) seconds vs. (243±43) seconds, P<0.05). The 15-minute ACTs were significantly longer in the warfarin ((259±56) seconds) and dabigatran ((243±43) seconds) groups compare with low-molecular-weight heparin group ((224±40) seconds) and rivaroxaban group ((226±32) seconds) (all P<0.05). The same trend was also observed in the rate of reaching ACT goal after initial-standard-dosage of heparin (warfarin (53%, 53/100), dabigatran (45%,44/98), low-molecular-weight heparin (28%,28/100), rivaroxaban (23%,11/48), P<0.05). The 1 hour ACT in the warfarin group ((254±49) seconds) was significantly longer than the other three groups (dabigatran (233±33) seconds, low-molecular-weight heparin (226±34) seconds, rivaroxaban (231±30) seconds, all P<0.01). The rate of reaching ACT goal at 1 hour were significantly higher in the warfarin group (66%,35/53) than in the dabigatran group (41%,18/44), and rivaroxaban group (27%,3/11) (all P<0.05). The total heparin required was significantly higher in rivaroxaban group than in the dabigatran and warfarin groups (all P<0.05). During the perioperative period, no patient exhibited any thromboembolic complications, and only a few minor bleeding complications was observed among patients, which was similar between the four groups (P>0.05). Conclusion Higher dosage of heparin is required during AF ablation to achieve the satisfactory anticoagulant intensity for AF patients under dabigatran etexilate (110 mg, Bid), low-molecular-weight heparin and rivaroxaban (20 mg, Qd) anticoagulation therapy before AF ablation.