Pseudohypoparathyroidism(PHP) is a rare genetic disorder.The main character is parathyroid hormone resistance,and some with typical Albright's Hereditary Osteodystrothy malformation.The wide range of PHP symptom spectrum may lead to miss or misdiagnosis.This paper reviewed and summarized the pathogenesis,manifestation and the progress on the diagnosis and treatment of PHP Ⅰ,so as to improve the diagnostic level of this disease.

Objective To investigate the impact of rivaroxaban and low molecular weight heparin on hidden blood loss after unilateral first half artificial hip replacement surgery.Methods According to the digital table,a total of 80 cases because of femoral neck fractures in elderly patients with unilateral arthroplasty artificial hip and a half after surgery were randomly divided into the rivaroxaban group and low molecular weight heparin (LMWH) group,40 cases in each group.In both groups,respectively,after 12 h begin daily oral rivaroxaban 10 mg and subcutaneous low molecular weight heparin 5 000 u,compared the two groups around the actual amount of perioperative blood loss,blood loss was dominant,recessive blood loss and hidden blood loss accounts,the actual percentage of total blood loss,and recorded 35d bleeding events.Results The total amount of blood loss,dominant blood loss,hidden blood loss and the hidden blood loss accounted for the actual percentage of the total amount of blood loss of the rivaroxaban group were (671.00 ± 55.61) mL,(313.88 ± 14.53) mL,(350.00 ± 29.41) mL,(52.00 ± 5.22) ％,respectively,which of the the LMWH group were (662.00 ± 30.19) mL,(288.87 ± 15.33) mL,(372.00 ± 35.10) mL,(56.00 ± 6.71) ％,there were no significant differences between the two groups (t =0.93,0.93,0.83,1.03,all P ＞ 0.05).Conclusion For patients first underwent unilateral hip replacement surgery artificial half,perioperative using rivaroxaban or LMWH has no significantly differences in hidden risk of bleeding and bleeding event rate.

Objective To summarize the experience of mammotome minimally invasive biopsy in detection of early breast cancer.Methods 1000 cases with breast lesions underwent minimally invasive surgery under imaging guided mammotome.Results By intraoperative frozen section,10 cases of early breast cancer was found,with 3 millimetre as the minimum lesion diameter,among whom 4 cases were intraductal carcinoma,5 cases were infiltrating ductal carcinoma,and 1 case was mixed carcinoma.Axillary lymph node metastasis was found in only 1 case.Conclusions Non-palpable small lesions cant be ignored.Ultrasound-guided mammotome minimally invasive surgery can accurately position and specifically diagnose non-palpable small lesions or multiple lesions,as well as suspicious malignant lesions.Benign lesions can be directly resected by uhrasound-guided mammotome minimally invasive surgery,which is of great value in detection of early breast cancer.

Objective To investigate the feasibility and plan quality of the image-guided volumetric modulated arc therapy (VMAT) based voluntary deep exhale breath-holding technique in the stereotactic ablative body radiotherapy (SABR) for liver tumors.Methods Fifteen patients with liver tumors were involved in this study.All patients were immobilized with voluntary deep exhale breath hold (vDEBH) combined with real-time position management (RPM) respiratory gating system.Treatment was planned using VMAT with 2 modified partial arc and re-planned using intensity modulated radiation therapy (IMRT) technique for comparison.Dosimetric parameters were calculated for plan quality assessment.Quality assurance studies included absolute dose and multiple planar dose verifications,total monitor units and delivery time analysis.Daily cone beam computed tomography imaging was used to verify the motions.Results There were no significant dosimetric differences between VMAT and conventional IMRT plans (P ＞0.05).Both techniques were able to minimize doses to organs at risk including normal liver,kidneys,spinal cord,and stomach.However,the average monitor units with VMAT were significantly lower 28.1％ than those with IMRT(t =3.064,P ＜0.05).The average beam-on time in VMAT plans was 31.6％ shorter than that in IMRT plans(t =2.278,P ＜ 0.05).Conclusions The utilization of VMAT in the treatment planning of SABR for liver tumors under breath control mode has better dosimetrics.In comparison to conventional IMRT plans,VMAT plans have higher efficiency and feasibility.

Objective To study the effect of Sildenafil in the treatment of hypoxemia after operation of cyanotic congenital heart disease.Methods A total of 34 cases with hypoxemia after operation of cyanotic congenital heart disease were collected between January 2009 to January 2015.They took Sildenafil with the dosage of 0.3-0.5 mg/kg every 6 hour.The change of heart rate (HR),systolic blood pressure (SBP),central venous pressure (CVP),pulmonary artery pressure (PAP),arterial partial pressure of oxygen [pa (O2)],arterial partial pressure of carbon dioxide [Pa (CO2)],oxygenation index [pa (O2)/FiO2],peak airway pressure (Ppeak),positive inotropic drug score (PIDS) and the lower bound of liver were observed at 4 time points,including before taking the medicine,after taking the medicine for 1 hour,after taking the medicine 1 day and after the ventilator was removed.Based on the data,the therapeutic effects of Sildenafil were studied.Results All 34 cases were cured.At the time point of 1 hour after taking Sildenafil,PAP,CVP and Ppeak decreased significantly,but pa (O2) and pa (O2)/FiO2 increased significantly (P ＜ 0.05).At the time point of 1 day after taking Sildinafil,SBP increased steadily,but PAP and CVP continued to get lower,and PIDS decreased significantly,while the liver lower bound was significantly reduced (P ＜ 0.05).At the time point of removing the ventilator,pa (O2) reached to (144.12 ± 26.25) mmHg,and hypoxemia was corrected,but PAP was reduced to (37.47 ± 3.77) mmHg,PIDS decreased to (17.56-± 1.94) scores,and heart failure was corrected.Compared with the previous 3 time points,there were statistically significant differences (P ＜ 0.05).Conclusion Sildenafil can highly selectively decrease pulmonary vascular resistance and obviously promote the correction of hypoxemia after operation of cyanotic congenital heart disease.

Objective To compare the primary clinical results of the anteromedial portal (AMP) and accessory anteromedial portal (AAMP) techniques for femoral tunnel drilling in single-bundle anterior cruciate ligament (ACL) reconstruction.Methods Data of isolated ACL rupture patients who had undergone single-bundle ACL reconstruction with autologous semitendinosus and gracilis tendons from March of 2012 to February of 2014 were retrospectively analyzed.The femoral tunnels were drilled with AMP techniques in 14 patients (group AMP) and with AAMP techniques in 23 patients (group AAMP).All the patients were followed up for 6 to 29 months.At the latest follow-up the Lysholm,Tegner and international knee documentation committee (IKDC) scores were used to estimate knee joint function,while the Lachman test and Pivot-shift test were used to estimate knee joint instability.Results The average follow-up time was 16.07±7.31 months in group AMP and 13.35±5.92 months in group AAMP.In group AMP,the Lysholm,Tegner and IKDC average scores were 89.86±7.90,8.64±1.65 and 89.31±8.16,respectively.While they were 92.17±6.72,8.91±1.16 and 90.89±7.80 in group AAMP,respectively.In group AMP the Lachman test was negative in 11 patients and positive in 3 patients.In group AAMP the Lachman test was negative in 20 patients and positive in 3 patients.The Pivotshift test was negative in 9 patients,positive in 5 patients and negative in 20 patients,positive in 3 patients in group AMP and AAMP,respectively.There were no significant differences in Lysholm,Tegner,IKDC scores,the negative rates of Lachman and Pivot-shift tests between two groups.Conclusion Single-bundle ACL reconstructions using AMP and AAMP techniques for femoral tunnel drilling have similar excellent primary clinical results.

Objective To investigate the diagnosis and treatment of sequential diffuse large B-cell lymphoma (DLBCL) after peripheral T-cell lymphoma (PTCL).Methods A case with sequential DLBCL after PTCL was reported,and the characteristics and responses of this case were analyzed.The previous literature was reviewed in order to explain the mechanism and prognosis of such type of disease.Results This patient was diagnosed as PTCL not otherwise specified (PTCL-NOS) definitely,but after a period of treatment,DLBCL was developed as a second tumor.The characteristics and onset interval were just similar to those described in the literature,in which the mechanisms were mentioned as common effects of tumor cell,microenviroment and therapies.This patient got effects through the initial treatment,but considering the poor outcome by former researchers,the prognosis needed to be closely followed up.Conclusion Sequential development of EBV-unrelated DLBCL after PTCL-NOS is very rare,and the mechanism,therapy and prognosis need further investigation.

Objective To investigate the intra-splenic blood cell count of posthepatitic cirrhotic portal hypertension,and compare it with patients' peripheral blood cell count to explore the role the spleen plays in peripheral cytopenia often seen in posthepatitic cirrhotic portal hypertension.Methods A prospective study was made on 15 cases with post hepatitis B cirrhotic portal hypertension undergoing splenectomy.Intrasplenic blood was sampled from upper pole,hilus (central pole),and lower pole of the spleen respectively for blood cell count.Results were compared with that of preoperative peripheral blood.Results There were significant statistical differences in the WBC count between splenic blood and peripheral blood,(11.20 ± 4.73) × 109/L vs.(4.06 ± 1.75) × 109/L,t =5.05,P ＜ 0.05),and in PLT count,(182.45±66.57) × 109/L vs.(63.54 ±28.40) × 109/L,t =7.285,P ＜0.05.There was no differences in the RBC count,(3.55 ± 0.94) × 1012/L vs.(3.01 ± 0.62) × 1012/L,t =1.874,P ＞ 0.05.Positive correlations were found between splenic PLT count and peripheral PLT count (r =0.610,P ＜0.05).Conclusions In posthepatitic B cirrhotic portal hypertension patients the intra-megalosplenic PLT and WBC count are significantly higher than that in peripheral blood.Megalosplenic PLT count correlates positively with peripheral PLT count.

OBJECTIVESince glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary hemolytic erythrocyte enzyme deficiency, most cases have single nucleotide mutations in the coding region, and current test methods for gene mutation have some missed detections, this study aimed to investigate the feasibility of RT-PCR sequencing in the detection of gene mutation in G6PD deficiency.

METHODSAccording to the G6PD/6GPD ratio, 195 children with anemia of unknown cause or who underwent physical examination between August 2013 and July 2014 were classified into G6PD-deficiency group with 130 children (G6PD/6GPD ratio <1.00) and control group with 65 children (G6PD/6GPD ratio≥1.00). The primer design and PCR amplification conditions were optimized, and RT-PCR sequencing was used to analyze the complete coding sequence and verify the genomic DNA sequence in the two groups.

RESULTSIn the G6PD-deficiency group, the detection rate of gene mutation was 100% and 13 missense mutations were detected, including one new mutation. In the control group, no missense mutation was detected in 28 boys; 13 heterozygous missense mutations, 1 homozygous same-sense mutation (C1191T) which had not been reported in China and abroad, and 14 single nucleotide polymorphisms of C1311T were detected in 37 girls. The control group showed a high rate of missed detection of G6PD deficiency (carriers) in the specimens from girls (35%, 13/37).

CONCLUSIONSRT-PCR sequencing has a high detection rate of G6PD gene mutation and a certain value in clinical diagnosis of G6PD deficiency.

Adolescent ; Child ; Child, Preschool ; Female ; Glucosephosphate Dehydrogenase ; genetics ; Glucosephosphate Dehydrogenase Deficiency ; diagnosis ; genetics ; Humans ; Infant ; Male ; Mutation ; Reverse Transcriptase Polymerase Chain Reaction ; methods ; Sequence Analysis, DNA

Objective To investigate the indications and clinical efficacy of combined application of laparoscope,choledochoscope and duodenoscope in the treatment of extrahepatic cholangiolithiasis.Methods The retrospective cohort study was adopted.The chnical data of 2 364 patients with extrahepatic cholangiolithiasis who were admitted to the First Hospital of Jilin University from January 2008 to December 2015 were collected.Of the 2 364 patients,861 patients had cholecystolithiasis combined with extrahepatic cholangiolithiasis and the diameter of common bile duct ≥ 8 mm,720 patients had cholecystolithiasis combine with extrahepatic cholangiolithiasis and the diameter of common bile duct ＜ 8 mm,783 patients had only extarhepatic cholangiolithiasis.In the patients diagnosed as cholecystolithiasis combined with extrahepatic changiolithiasis,laparoscopic cholecystectomy (LC) + laparoscopic common bile duct exploration (LCBDE) were applied to patients with the diameter of common bile duct≥8 mm,and the T-tube placement or primary suture was used intraoperatively according to the status of individualized patients;endoscopic sphincterotomy (EST) or endoscopic papillary balloon dilation (EPBD) + LC were applied to patients with the diameter of common bile duct ＜ 8 mm.For patients with only extrahepatic cholangiolithiasis or recurrent stones after cholecystectomy,EST or EPBD was applied,and LCBDE was applied to patients with multiple stones and maximum diameter ＞ 2 cm and unsuitable for EST or EPBD.If residual stones were found after operation in patients with T-tube placement,choledochoscope was used to extract stone;otherwise,EST or EPBD was used.Treatment outcomes including treatment method,success rate of minimally invasive lithotomy,operation time,incidence of complication,duration of postoperative hospital stay and treatment expenses,and the results of follow-up including 1-,3-year recurrence rate of stones were recorded.The follow-up was done by outpatient examination and telephone interview till January 2016.All the patients were reexamined blood routine,liver function and color doppler ultrasonography of the abdomen at 1 month,3 months,6 months,1 year and 3 years after operation.Suspected residual cholangiolithiasis found by ultrasound was varified by computer tomography (CT) or magnetic resonanced cholangiopancreatography (MRCP) imaging examination.For patients with T-tube placement,CT scan and biliary photography were performed at 2-3 months postoperatively to determine whether residual stones existed and T tube could be pulled out.Measurement data were presented as mean (range).Results Of 2 364 patients,2 271 patients received minimally invasive lithotomy successfully.Of 861 patients of cholecystolithiasis combined with extrahepatic cholangiolithiasis and the diameter of common bile duct≥8 mm,836 succeeded in minimally invasive lithotomy,with a success rate of 97.10％ (836/861),the other 25 patients were converted to open surgery.Seven hundred and three patients of 836 patients received T-tube placement in LCBDE,and the mean operation time,incidence of complications,duration of postoperative hospital stay and treatment expenses were 97 minutes (range,41-167 minutes),3.70％ (26/703),6.7 days (range,3.0-32.0 days) and 3.4 × 104 yuan (range,1.5 × 104-6.7 × 104 yuan),respectively.One hundred and thirtythree patients of 836 patients received primary suture,and the mean operation time,incidence of complications,duration of postoperative hospital stay and treatment expenses were 89 minutes (range,39-123 minutes),3.01％ (4/133),4.1 days (range,2.0-17.0 days),2.1 × 104 yuan (range,1.6 × 104-3.4 × 104 yuan),respectively.Of 720 patients with the diameter of common bile duct ＜ 8 mm who underwent EST or EPBD + LC,687 succeeded in minimally invasive lithotomy,with a success rate of 95.42％ (687/720),the other 33 patients were converted to open surgery.The mean operation time,incidence of complications,duration of postoperative hospital stay and treatment expenses of 687 patients were 101 minutes (range,69-163 minutes),2.91％ (20/687),5.6 days (range,2.0-15.0 days) and 2.8 × 104 yuan (range,2.0 × 104-6.4 × 104 yuan),respectively.In 783 patients with only extrahepatic cholangiolithiasis or recurrent stones after cholecystectomy,701 of 725 patients who were treated with EST or EPBD succeeded in minimally invasive lithotomy,with a success rate of 96.69％ (701/ 725),and the mean operation time,incidence of complications,duration of postoperative hospital stay and treatment expenses of 701 patients were 47 minutes (range,11-79 minutes),2.28％ (16/701),3.7 days (range,2.0-19.0 days),1.7 × 104 yuan (range,1.3 × 104-5.5 × 104 yuan),respectively;47 of 58 patients who were treated with LCBDE succeeded in lithotomy,with a success rate of 81.03％ (47/58),and the mean operation time,incidence of complications,duration of postoperative hospital stay and treatment expenses were 124 minutes (range,94-170 minutes),8.51％ (4/47),7.9 days (range,5.0-21.0 days) and 3.8 × 104 yuan (range,2.3 × 104-7.9 × 104 yuan),respectively.Of 2 364 patients,2 207 were followed up for a mean time of 38 months (range,1-72 months).The 1-,3-year recurrence rates were 2.74％ (19/693) and 5.08％ (24/472) in patients receiving LC + LCBDE,3.10％ (21/677) and 5.69％ (30/527)in patients receiving EST or EPBD +LC for cholecystolithiasis combined with extrahepatic cholangiolithiasis.The 1-,3-year recurrence rates were 3.22％ (20/621) and 6.11％ (25/409) in patients receiving EST or EPBD + LC,7.32％ (3/41) and 11.11％(2/18) in patients receiving LCBDE for only extrahepatic cholangiolithiasis or recurrent stones after cholecystectomy.Conclusions It is safe and effective to treat extrahepatic cholangiolithiasis based on combined application of laparoscope,choledochoscope and duodenoscope,with choosing appropriate indications as the key to improve the therapeutic effect.Primary suture in the LCBDE is recommended because it can protect patients from T-tube placement.