ABSTRACT
OBJECTIVE@#To explore the clinical features and genetic basis for a patient with hereditary hypophosphatemic rickets with hypercalciuria(HHRH).@*METHODS@#Clinical data of the patient was collected. The patient was subjected to whole exome capture and next generation sequencing (NGS). Suspected variants were verified by Sanger sequencing.@*RESULTS@#The patient presented with hypophosphatemic rickets, short stature, hypercalciuria, and renal stones. NGS showed that he has carried compound heterozygous variants of the SLC34A3 gene, namely c.532_533delCA(p.Q178Vfs*6) and c.894_925+69del(splicing). His parents were asymptomatic heterozygous carriers of one of the variants. Based on ACMG guidelines, both variants were classified as pathogenic.@*CONCLUSION@#The compound heterozygous variants c.532_533delCA (p.Q178Vfs*6) and c.894_925+69del(splicing) of the SLC34A3 gene probably underlie the disease in this child. Above finding has enriched the variant spectrum for HHRH. Based on the results, prenatal diagnosis may be provided for the family.
ABSTRACT
Objective To investigate the safety and efficacy of 177Lu-prostate specific membrane antigen (PSMA)-617 in the treatment of metastatic castration-resistant prostate cancer (mCRPC).Methods From August 2017 to September 2018,11 patients(average age 70.6 years) with mCRPC who underwent 177Lu-PSMA-617 therapy in Nanjing First Hospital were studied.All patients underwent 68Ga-PSMA-11 PET/CT before therapy to assess the tumor radioactive uptake.Blood routine examination and renal function test results were documented before and after therapy to assess the safety.The efficacy was reflected by the changes of prostate specific antigen (PSA) levels and maximum standardized uptake value (SUVmax) on 68Ga-PSMA-11 PET/CT imaging.Paired t test and Wilcoxon's sign rank test were used to analyze the data.Results No acute side effects were observed after therapy of 177Lu-PSMA-617.There were no statistically significant differences after therapy in WBC counts,RBC counts,and PLT,as well as Hb levels (t values:-0.28-1.11,all P＞ 0.05).No kidney toxicity was found.The PSA level after 177Lu-PSMA-617 therapy was significantly lower than that before therapy (80.70 (14.29,1 538.00) μg/L vs 604.60 (88.41,3 980.00) μg/L;u =59,P =0.023).Of the 11 patients,only 2 had elevated PSA levels and disease progression,while the other 9 patients had varying decreases,of which 2/11 decreased by ＞30％ and 7/11 decreased by ＞50％.After therapy,SUVmax of metastatic lesions and metastatic lymph nodes were decreased in 9 and 2 patients respectively.Conclusions 177Lu-PSMA-617 has a good therapeutic value for mCRPC.It is safe and has no obvious side effects.
ABSTRACT
Objective To investigate the clinical efficacy of laparoscopic resection for retroperitoneal tumor via transabdominal approach.Methods The retrospective cross-sectional study was conducted.The clinicopathological data of 37 patients with retroperitoneal tumor who underwent laparoscopic resection via transabdominal approach at Fujian Medical University Union Hospital between January 2011 and August 2017 were collected.The surgical approach of resection for retroperitoneal tumor at the left hypochondriac region,left iliac region,right hypochondriac region and right iliac region referred to laparoscopic distal pancreatectomy,laparoscopic left hemicolectomy,laparoscopic pancreatoduodenectomy and laparoscopic right hemicolectomy respectively.Observation indicators:(1) intra-and post-operative recovery situations;(2) follow-up and survival situations.Follow-up using outpatient examination and telephone interview was performed to detect postoperative tumor recurrence,metastasis and survival of patients up to November 2017.Measurement data with normal distribution were represented as (x)±s.Measurement data with skewed distribution were described as M (range).Results (1) Intra-and post-operative recovery situations:37 patients underwent successfully laparoscopic resection for retroperitoneal tumor via transabdominal approach.Among 37 patients,4 were converted to open surgery,4 were completed surgery with assisted small incision,4 were combined with adjacent organ resection and other 25 underwent totally laparoscopic resection for retroperitoneal tumor.The operation time,volume of intraoperative blood loss,postoperative gastrointestinal recovery time,postoperative drainage-tube removal time and duration of postoperative hospital stay were respectively (181±73) minutes,(160±87) mL,(3.0± 1.0) days,(3.0±2.0) days and (7± 4)days.Of 37 patients,3 with postoperative complications including 2 of chylous fistula and 1 of delayed gastric emptying were improved by symptomatic treatment.There was no perioperative death.(2) Follow-up and survival situations:37 patients were followed up for 3-82 months,with a median time of 30 months.During the follow-up,1 patient with inflammatory myofibroblastic tumor had recurrence at 15 months postoperatively and underwent surgical resection,however,the patient had liver metastasis at 9 months after the second operation and underwent interventional therapy repeatly.One patient with Castleman and 5 with lymphoma underwent regular chemotherapy and achieved disease-free survival.The other patients had disease-free survival.Conclusion Laparoscopic resection for retroperitoneal tumor via transabdominal approach is safe and feasible.
ABSTRACT
This study was ai med to observe the taste-masking effects of Neotame on bitter Chinese herbal ingredients. Five kinds of herbal ingredients, which include Scutellaria baicalensis Georgi, Cortex Phellodendri chinensis, Coptis chinensis Franch, Gentiana scabra Bunge, Andrographis paniculata, were selected to measure the bitterness degree of decoctions with berberine solution as the benchmark. The decreasing of bitterness degree was used as index. Healthy volunteers were recruited to taste and compare the changes of bitterness of decoctions with the taste-masking effects of Neotame. Different concentrations of Neotame were selected in the determination of the influence on changes of bitterness. The results showed that when the concentration of Neotame was at 0.012 5‰-0.4‰, taste-masking effects of Neotame on selected herbal decoctions were in a concentration-dependent fashion. When the concentration of Neotame was 0.4‰, the reduced bitterness of S. baicalensis Georgi and Cortex P. chinensis decoctions were 1.22 and 1.77, by 70.11% and 71.88%, respectively. Three highly-bitter herbal ingredients C. chinensis Franch, G. scabra Bunge and A . paniculata were also reduced in bitter taste by 49.12%, 50.87% and 38.39%, with the bitter reduced value (△I) of 1.78, 2.02 and 1.43, respectively. It was concluded that Neotame exerted taste masking potential on bitter herbal ingredients with different bitter degrees.
ABSTRACT
Objective To observe the influence of Shenkang injection with Irbesartan on urinary albumin excretion rate(UAER)in 24 hours,serum lipid and blood rheology in early diabetic nephropathy.Methods One hundred and fifty normotensive early diabetic nephmpathy were randomly divided into control group,Shenkang injection group and Shenkang injection with Irbesartan group.Three groups were treated with diabetic education,dietary regimen,suitable physical activity and oral anti-hyperglycemic agents till their fasting blood glucose(FBG)was less than 7.0 mmol/L and postprandial blood glucose(PBG)was less than 10.0 mmol/L.The control group was treated with oral anti-hyperglycemic agents or/and insulin.Shenkang injection group was additionally treated with Shenkang solution.Shenkang solution was mixed by Shenkang injection 100 ml,5% glucose 250 ml and insulin 2-3 U.Shenkang solution was intravenously guttaed once a day.Shenkang injection with Irbesartan group was additionally treated with Irbesartan 0.15 g,once a day,taken orally.A course was taken for 3 weeks.The levels of UAER,serum lipid and blood rheology were detected immediately and 9 weeks after treatment.Results In the Shenkang injection group,compared with those before treatment,them were significant difference in UAER (87.44 ±10.06)μg/min vs.(116.55 ± 33.42)μg/min),serum lipid( (4.22 ± 0.70)mmol/L vs.(4.88 ± 0.69 )mmol/L)and blood rheology( (5.77 ±0.53)mPa·s vs.(7.38 ± 0.41)mPa·s)(P ＜ 0.05).In the Shenkang injection with Irbesartan group,compared to those before treatment,there were also significant difference in UAER ( (61.90 ±28.02)μg/min vs.(123.37 ± 29.98)μg/min),serum lipid( (4.00 ± 0.14)mmol/L vs.(4.90 ± 0.12)mmol/L)and blood rheology( (5.11 ±0.41)mPa·s vs.(7.27 ± 0.44)mpa·s)(P ＜ 0.05).Whearas in the control group,no significant difference were found compared with those before treatment.Furthermore,the improvements in the Shenkang injection with Irbesartan group were better than those in the Shenkang injection group(P ＜ 0.05).Conclusions Shenkang injection can reduce UAER,decrease serum lipid and improve renal blood rheology.Iteffectively prevents diabetic nephropathy in earlier period and maybe have synergy with Irbesartan.
ABSTRACT
To investigate the historical origins of folk herbal medicine "Tian qie er",the origin of "Tian qie er" was confirmed by textural,botanical characteristics research,and field survey.The"Tian qie er" which was originally recorded in"L? Chan Yan Ben Cao"should be "Longzhu"(Tubocapsicum anomalum) of Solanaceae family.