Objective:To conduct the genetic analysis of a family with one patient suffering from juvenile Parkinson's disease(JP)and discuss the clinical manifestations,genetic mutation characteristics,and treatment plans prompted by PRKN gene compound heterozygous mutations,and to enhance the clinicians'awareness of this disease.Methods:The clinical data of one patient with JP caused by PRKN gene mutations was analyzed,the clinical manifestations and genetic mutation features of the patient were summarized,and the related literatures were reviewed.Results:The patient,a 16-year-old male,was admitted to the hospital due to unstable gait,trembling limbs with rigidity in both lower limbs for three years.The examination results revealed a panic gait,clear consciousness,fluent speech,normal muscle strength in limbs,increased"gear-like"muscle tone in both upper limbs,and"lead-pipe"rigidity in both lower limbs;the sensory functions and tendon reflexes were normal.The head,neck,and thoracic magnetic resonance imaging(MRI)results showed no abnormalities.18F-fluorodeoxyglucose(18F-FDG)positron emission tomography/computed tomography(PET/CT)results showed that the head size and shape were normal,the glucose metabolism in the left cerebellum and middle temporal gyrus was slightly decreased,and the glucose metabolism in bilateral thalami,right frontal lobe,parietotemporal lobe,and left medial frontal lobe was increased.The dopamine transporter(DAT)PET/CT results showed that there was no radioactive distribution in the brain cortex and the DAT distribution in the posterior part of both striata was decreased.The whole-exome sequencing results showed the patient had two PRKN gene mutations,such as codons c.8T>A and c.850G>C compound heterozygous mutations,and each mutation was from one parent;the patient's father carried the c.8T>A mutation,the patient's mother carried the c.850G>C mutation,and the patient's sister had the same genetic mutation site as the patient's father.Conclusion:PRKN gene compound heterozygous mutations may be the basis of the disease in this family.Identification of the mutation c.8T>A expands the mutation spectrum of the PRKN gene,and provides the valuable information for the research on the pathogenic genetic mutations of the JP patients.

Health security for rare diseases has aroused much attention in the society nowadays, In this article, we analyzed in-depth the construction of rare diseases health security in China by studying the literature reviews, expert interviews, and reports of pilot policy investigations. We conclude in the study that it is an important step to constructing a multiple health security system for the rare disease making the basic health security as the cornerstone. For rare medications and treatments that cannot be covered by the current national health insurance, it is necessary to build an specific funding for rare disease funding as a means of safeguard. Finally, for those who are financially disadvantages, the system should involve relief and philanthropy to help them. By constructing a multiple health security system, rare diseases patients in our country will get a well-covered health care.

Humans ; Aminoquinolines/therapeutic use* ; Carcinoma, Non-Small-Cell Lung/genetics* ; Lung Neoplasms/genetics* ; Mutation/genetics* ; Standard of Care

Objective To analyze the disease burden status, trends and possible influencing factors of pancreatic cancer in Chengde of Hebei from 2010 to 2020, in order to provide theoretical basis for the preventionof pancreatic cancer. Methods Using the global burden of disease open database, the incidence rate, mortality, years of life lost (YLL), years of life lost with disability (YLD) and disability adjusted life year (DALY) of pancreatic cancer in the region are obtained,average annual percent change (AAPC) was calculated using joinpoint model to test the trend of disease burden change of pancreatic cancer patients from 2010 to 2020. At the same time, the patient characteristics such as hypertension, diabetes and other categorical variables were set as dummy variables, and the risk factors affecting the mortality of patients with pancreatic cancer were analyzed by linear regression. Results In 2010, there were 15 new cases of pancreatic cancer and 13 deaths in Chengde District , Hebei Province. The YLLs caused by pancreatic cancer accounted for 70.67% of DALY. In 2020, there were 160 new cases of pancreatic cancer and 147 deaths in Chengde, Hebei Province. The YLLs caused by pancreatic cancer accounted for 96.02% of DALY. From 2010 to 2020, the incidence of pancreatic cancer increased by 9.79%, and the incidence rate increased by 7.81%, showing an obvious upward trend (APCC =2.20%, P<0.05); The number of deaths increased by 11.38%, and the mortality rate increased by 8.39%, showing an upward trend (APCC=2.81%, P<0.05). In addition, from 2010 to 2020, the DALY caused by pancreatic cancer increased by 20.10%, and the DALY rate increased by 309.41% (APCC=4.83); YLL increased by 7.94% and YLL rate increased by 210.42% (APCC=2.20); At the same time, YLD increased by 5.71% and YLD rate increased by 11.03% (APCC=2.32), showing an upward trend (P<0.05).The results of linear regression showed that diabetes (OR= 1.430,95% CI: 1.192-2.016), BMI > 28.0 and pancreatitis (OR=1.574 , 95% CI: 1.328-3.045) were all risk factors for death of patients with pancreatic cancer (OR>1) . Conclusion From 2010 to 2020, the incidence and mortality of pancreatic cancer among local residents in Chengde of Hebei showed an upward trend, and the disease burden was also increasing year by year. The basic diseases of diabetes and chronic pancreatitis increase the death risk and should be protected.

Objective:To study the levels and variation of equilibrium factor in indoor environment.Methods:A one-year continuous measurement of radon concentration and equilibrium equivalent radon concentration was carried out in an indoor office building of Nanning city. The effective data acquisition rates of radon gas and radon progeny were 99.9% and 86.7%, respectively.Results:The annual average activity concentration and equilibrium equivalent radon concentration in indoor environment were (50.9±20.7)and (15.5±10.1)Bq/m 3, both of which had the same diurnal and seasonal variation. The average annual value of equilibrium factor was 0.30±0.12, showing no obvious diurnal variation. The distribution of monthly mean value of equilibrium factor showed a similar trend to that of radon and radon progeny. The highest and the lowest value appeared in November and June, respectively, with 0.47±0.24 and 0.19±0.06. Conclusions:Due to the large variation range of monthly mean value of equilibrium factor in indoor environment, when annual effective dose of radon exposure was estimated based on radon gas concentration, attention should be paid to choose the quantity value of equilibrium factor and the uncertainty caused by the change of equilibrium factor should be considered.

Background:As one of the most popular traditional Chinese medicines (TCMs) for the treatment of various liver diseases,virgate wormwood herb (Artemisia capillaris Thunb.) has a long application history in TCM practices.It has been well established that the chemical composition is responsible for the pronounced therapeutic spectrum of A.capillaris.Although they are comprehensive,the time-intensive liquid chromatography coupled to tandem mass spectrometry (LC-MS/MS) assays cannot fully satisfy the analytical measurement workload from many test samples.Direct infusion-MS/MS (DI-MS/MS) may be the optimal choice to achieve high-throughput analysis if the mass spectrometer can universally record MS2 spectra.Methods:According to the application of gas phase ion fractionation concept,the MS/MSALL program enables to gain MS2 spectrum for each nominal m/z value with a data-independent acquisition algorithm via segmenting the entire MS1 ion cohort into sequential ion pieces with 1 Da width,when sufficient measurement time is allowed by DI approach.Here,rapid clarification of the chemical composition was attempted for A.capillaris using DI-MS/MSALL.A.capillaris extract was imported directly into the elec-trospray ionization interface to obtain the MS/MSALL measurement.After the MS1-MS2 dataset was well organized,we focused on structural characterization through retrieving information from the available databases and literature.Results:Twenty-six compounds were found,including 12 caffeoyl quinic acid derivatives,7 flavonoids,and 7 compounds belonging to other chemical families.Among them,24 ones were structurally iden-tified.Compared with the LC-MS/MS technique,DI-MS/MSALL has the advantages of low-costing,solvent-saving,and time-saving.Conclusions:Chemical profiling of A.capillaris extract was accomplished within 5 min by DI-MS/MSALL,and this technique can be an alternative choice for chemical profile characterization of TCMs due to its extraordinary high-throughput advantage.

Objective: To explore the clinical application value of enhanced recovery after surgery (ERAS) in the laparoscopic surgery for cholecystolithiasis comorbid with choledocholithiasis. Methods: The prospective study was conducted. The clinicopathological data of 52 patients with cholecystolithiasis comorbid with choledocholithiasis who were admitted to the Third Affiliated Hospital of Zunyi Medical University from September 2016 to September 2018 were collected. Patients were divided into 2 groups by random number table: patients in observation group received laparoscopic cholecystectomy + choledocholithotomy + choledochoscopic exploration + T-tube drainage (or primary suture of common bile duct) and perioperative management guided by the concept of enhanced recovery after surgery (ERAS), and patients in control group received traditional perioperative management. Observation indicators: (1) surgical situations; (2) postoperative situations; (3) postoperative complications; (4) postoperative pain scores; (5) changes in hepatic function and blood routine during perioperative period. Follow-up using outpatient examination and telephone interview was performed to detect complications during the postoperative 6 months up to March 2019. Measurement data with normal distribution were represented as Mean±SD, and comparison between groups was analyzed using the paired t test or repeated ANOVA. Count data were described as absolute numbers and percentages, and comparison between groups was analyzed using the chi-square test or Fisher exact probability. Results: Fifty-two patients were screened for eligibility, including 20 males and 32 females, aged 25-68 years, with an average age of 53 years. There were 30 patients in the observation group and 22 in the control group. (1) Surgical situations: the operation time and volume of intraoperative blood loss were (133±19)minutes and (47±21)mL in the observation group, and (136±22)minutes and (49±23)mL in the control group, respectively, showing no significant difference between the two groups (t=-0.386, -0.211, P>0.05). (2) Postoperative situations: time to out-of-bed activity, time to initial food intake, time to first anal flatus, duration of postoperative hospital stay, and hospital expenses were (18±4)hours, (19±5)hours, (28±2)hours, (4.0±1.0)days, and (1.82±0.22)×10⁴ yuan in the observation group, and (29±7)hours, (46±9)hours, (37±4)hours, (6.6±1.6)days, and (2.25±0.29)×10⁴ yuan in the control group, respectively, showing significant differences between the two groups (t=-7.054, -14.169, -9.426, -6.582, -5.809, P<0.05). (3) Postoperative complications: 1 of 30 patients in the observation group had postoperative biliary leakage, with a postoperative complication rate of 3.3%, and was cured after symptomatic support treatment. Six of 22 patients in the control group had postoperative complication, with a postoperative complication rate of 27.3%, including 2 of biliary leakage, 1 of hemorrhage, 1 of abdominal infection, 1 of pulmonary infection, 1 of urinary infection, and they were cured after symptomatic support treatment. There was a significant difference between the two groups (χ²=4.358, P<0.05). (4) Postoperative pain scores: from postoperative 6 hours to 48 hours, the postoperative pain score changed from 2.4±0.7 to 1.9±0.9 in the observation group, and from 4.1±0.7 to 2.9±0.9 in the control group, respectively, showing a significant difference in the changing trend between the two groups (F=78.053, P<0.05). (5) Changes in hepatic function and blood routine during perioperative period: from preoperation to postoperative 3 days, levels of alamine aminotransferase (ALT), aspartate transaminase (AST), gamma-glutamyltransferase (GGT), total bilirubin (TBil), and count of white blood cells in the observation group changed from (77±20)U/L to (53±12)U/L, from (85±22)U/L to (61±17)U/L, from (166±39)U/L to (55±24)U/L, from (40±13)μmol/L to (29±12)μmol/L, from (7.0±2.0)×10⁹/L to (6.8±1.9)×10⁹/L, and changed from (79±23)U/L to (62±14)U/L, from (88±24)U/L to (64±17)U/L, from (179±34)U/L to (74±29)U/L, from (45±13)μmol/L to (35±12)μmol/L, from (7.9±2.4)×10⁹/L to (7.5±1.9)×10⁹/L in the control group, respectively. The levels of ALT, AST, GGT, TBiL, and count of WBC showed increasing at postoperative 1 day, and decreasing at postoperative 3 days. There was no significant difference in the changing trend between the two groups (F=0.058, 0.471, 3.021, 1.593, 2.172, P>0.05). Conclusion ERAS is safe and effective in the laparoscopic surgery for choledocholithiasis comorbid with cholecystolithiasis.

Objective: To study the clinical characteristics, image findings, therapeutic method and prognosis of metanephric adenoma. Method: The clinical characteristic, image findings, operation methods and prognosis of 16 metanephric adenoma patients treated at Department of Urology, Peking University First Hospital from January 2004 to March 2016 were analyzed retrospectively. Results: There were 6 male and 10 female patients in the study. The mean age of patients was 33.7 years (ranging from 14 to 83 years). Two patients came to the hospital because of fever, while other 14 patients had no symptoms and found renal tumor by medical examination. One case was found polythemia vera and another 1 case showed mild anemia. Serum creatine of all the cases were in normal range. The tumor of 11 cases were at left side and 5 cases were at right. All patients took urinary tract ultrasound. Fifteen patients took CT examination. Among them, 14 cases were solid mass and 1 case was cystosolid.CT value was (41±4) HU. CT scan showed that the tumor was slight enhanced and CT value increased to (77±9) HU. Six patients took MRI examination. The MRI showed high or low signal of T1WI or T2WI scans.Tumor size was (4.7±3.9)cm (ranging from 1.7 to 17.5 cm). All 16 patients took operation and 11 of them took laparoscopic surgery while the other 5 cases took open surgery. Eleven cases took partial nephrectomy, 4 cases took nephrectomy and 1 case took nephroureterectomy. The surgical procedures were all successful and no complications occured during perioperative period. All cases were all confirmed metanephric adenoma by postoperative pathology and surgery cut edge were all negative. Immunohistochemical study showed that the positive rate of Vimentin, CD57, AE1/AE3, WT1, CK7 and AMACR respectively were 16/16, 15/16, 12/16, 10/16, 3/16 and 2/16. The median follow-up time of 16 cases was 44 months (ranging from 8 to 125 months) and none had recurrence or metastasis.One case died 125 months after surgery because of advanced age(83 years old). Conclusions Metanephric adenoma is difficult to be diagnosed relying on clinical characteristics and image features. Pathology can help confirm the diagnosis. Partial nephrectomy is the first choice for operation and can achieve good prognosis. But it still needs a regular follow-up.

Objective:To detect 11 kinds of illegally added chemicals in anti-fatigue health foods including sildenafil ,tadalafil, vardenafil , acetildenafil , homosildenafil , hydorxyhomosildenafil , norneosildenafil , aminotadalafil , pseudovardenafil , thioaildenafil and noracetildenafil.Methods:An HPLC-MS/MS method was used with LUNA C18(250 mm ×4.6 mm, 5μm)as the analysis column and triethylamine phosphate , acetonitrile and methanol as the mobile phase with gradient elution at the flow rate of 1ml.min-1 .An ESI+scan and an MS/MS mode were applied .The qualitative and quantitative analysis were carried out by HPLC-MS/MS.Results:Through the detection of 100 batches of samples , 85 batches were only found illegally added chemical substance sildenafil mainly at the concentration of 5-15 mg per granule .Conclusion:The method of HPLC-MS/MS can be used as a powerful screening tool for the rapid drug screening in basic level drug control laboratories to reduce chemical substances illegally added in anti -fatigue health foods .

Objective To understand the status of soil?transmitted nematode infections in Xiding Township,Menghai Coun?ty,Yunnan Province,so as to provide the reference for formulating the strategy of soil?transmitted nematodosis control. Meth?ods Soil?transmitted nematode eggs in feces were detected by the Kato?Katz method,and the eggs of Enterobius vermicularis were detected by the cellophane tape method in children. The soil samples were collected from vegetable ,fruit and other crop fields of 15 residents randomly to detect hookworm. Results The stool samples from 1 002 residents were examined and the soil?transmitted nematode infection rate was 20.06%(201/1 002). The infection rates of hookworm,Ascaris lumbricoides and Trichu?ris trichura were 18.96%(190 cases),1.70%(17 cases)and 0.90%(9 cases)respectively. The percentages of people with light infection of hookworm,A. lumbricoides and T. trichura were 97.37%(185/190),88.24%(15/17)and 100%(9/9)respec?tively. No infection of E. vermicularis was found. Fifteen soil samples were tested,and no hookworm was found in the soil. Con?clusion The infection rate of soil?transmitted nematode in Xiding Township,Menghai County is high,but the infectiosity is light. The control and monitoring of soil?transmitted nematodosis should be strengthened in this area.