Clinical practice guidelines represent the best recommendations for patient care. They are developed through systematically reviewing currently available clinical evidence and weighing the relative benefits and risks of various interventions. However, clinical practice guidelines have to go through a long translation cycle from development and revision to clinical promotion and application, facing problems such as scattered distribution, high duplication rate, and low actual utilization. At present, the clinical practice guideline information platform can directly or indirectly solve the problems related to the lengthy revision cycles, decentralized dissemination and limited application of clinical practice guidelines. Therefore, this paper systematically examines different types of clinical practice guideline information platforms and investigates their corresponding challenges and emerging trends in platform design, data integration, and practical implementation, with the aim of clarifying the current status of this field and providing valuable reference for future research on clinical practice guideline information platforms.

Objectives:To summarize the clinical and genetic characteristics of the patients with isolated methylmalonic acidemia and investigate the strategies for the diagnosis, treatment and prevention.Methods:Three hundred and fourteen patients (180 males, 134 females) with isolated methylmalonic acidemia were ascertained from 26 provinces or cities across the mainland of China during January 1998 to March 2020. Genetic analysis was performed by Sanger sequencing, gene panel sequencing, whole exome sequencing, multiplex ligation-dependent probe amplification or quantitative PCR. According to the age of onset, the patients were divided to early-onset group (≤12 months of age) and the late-onset group (>12 months of age). They were treated by cobalamin, L-carnitine and (or) special diet and symptomatic treatment. Statistical analysis was done using Chi-square test.Results:Fifty-eight of 314 (18.5%) patients were detected by Newborn screening using liquid chromatography tandem mass spectrometry. Five cases (1.6%) had a postmortem diagnosis. Two hundred and fifty-one patients (79.9%) were clinically diagnosed with an age of onset ranged from 3 hours after birth to 18 years. One hundred and fifty-nine patients (71.0%) belonged to early-onset groups, 65 patients (29.0%) belonged to the late-onset group. The most common symptoms were metabolic crises, psychomotor retardation, epilepsy, anemia and multiple organ damage. Metabolic acidosis and anemia were more common in early-onset patients than that in late-onset patients (20.8%(33/159) vs. 9.2% (6/65), 34.6% (55/159) vs. 16.9% (11/165), χ 2=4.261, 6.930, P=0.039, 0.008). Genetic tests were performed for 236 patients (75.2%), 96.2%(227/236) had molecular confirmation. One hundred and twenty-seven variants were identified in seven genes (MMUT, MMAA, MMAB, MMADHC, SUCLG1, SUCLA2, and MCEE), of which 49 were novel. The mut type, caused by the deficiency of methylmalonyl-CoA mutase, was the most common ( n=211, 93%) cause of this condition. c.729_730insTT, c.1106G>A and c.914T>C were the three most frequent mutations in MMUT gene. The frequency of c.914T>C in early-onset patients was significantly higher than that in late-onset patients (8.3% (18/216) vs. 1.6% (1/64), χ 2=3.859, P=0.037). Metabolic crisis was more frequent in mut type than the other types (72.6% (114/157) vs. 3/13, χ 2=13.729, P=0.001),developmental delay and hypotonia were less frequent in mut type (38.2% (60/157) vs. 9/13, 25.5% (40/157) vs. 8/13, χ 2=4.789, 7.705, P=0.030, 0.006). Of the 58 patients identified by newborn screening, 44 patients (75.9%) who were treated from asymptomatic phase developed normally whereas 14 patients (24.1%) who received treatment after developing symptoms exhibited varying degrees of psychomotor retardation. Conclusions:The characteristics of phenotypes and genotypes among Chinese patients with isolated methylmalonic acidemia were analyzed. Expanded the mutation spectrum of the associated genes. Because of the complex clinical manifestations and severe early onset of isolated methylmalonic acidemia, Newborn screening is crucial for early diagnosis and improvement of prognosis. MMUT gene is recommended for carrier screening as an effort to move the test earlier as a part of the primary prevention of birth defects.

Objectives To observe the effect of amphiregulin (Areg) via lateral ventricle injection on focal cerebral ischemia/reperfusion (I/R) injury in rats and to investigate its possible mechanism. Methods A total of 96 3-month old health specified pathogen free SD rats were randomly divided into 6 groups (n=16 in each group):sham operation group (sham group),only exposure of common carotid artery and bifurcation;I/R group,making I/R model;solvent control group,lateral ventricle injection of standard protein solution(5 μl);Areg group,lateral ventricle injection of Areg(2 μg/5 μl);AG1478 group [AG1478,a blocker of Areg receptor epidermal growth factor receptor(EGFR),lateral ventricle injection of AG1478 (2.5 μg/5 μl);Areg combined AG1478 (AAG) group,lateral ventricle giving AG1478 (2.5 μg/5 μl),and then giving Areg (2 μg/5 μl) after 30 mm.The model of focal cerebral I/R injury was induced after 30 min administration of the above last 4 groups.After 24 h of reperfusion,the volume of cerebral infarction, the neurobehavioral score and the number of apoptotic cells in the brain tissue were compared among the groups. After 6 h of reperfusion,the phosphorylation levels of EGFR and protein kinase B(Akt)in ischemic brain tissue were detected. Results Compared with the sham group,the cerebral infarction volume and the number of apoptotic cells in brain tissue were increased significantly,while the neurobehavioral score was decreased(all P<0.05).Compared with the I/R group,the volume of cerebral infarction,the number of apoptotic cells in the brain tissue were decreased significantly,and the neurobehavioral score was increased in the Areg group,the levels of EGFR and Akt phosphorylation were significantly higher (all P <0. 05). Compared with the I/R group,the volume of cerebral infarction and the number of apoptotic cells of the AG1478 group were increased,the levels of EGFR and Akt phosphorylation were decreased(all P<0.05);Compared with the Areg group,the volume of cerebral infarction and the number of apoptotic cells of the AAG group and AG1478 group were increased significantly,and the levels of EGFR and Akt phosphorylation were decreased significantly(all P<0.05). Conclusions Areg reduces the infarct volume in ischemic brain tissue,improves nerve function,and inhibits apoptosis by activating EGFR-Akt signaling pathway. Therefore,it has some protective effect for cerebral I/R injury.

Objective To explore the efficacy and safety of double dosage of SHUGANJIEYU capsule on mod?erate depression. Methods The study was conducted by a multicenter, random, double-blind and parallel-controlled trial. Trial group received SHUGANJIEYU capsules 4# twice a day. Control group got two SHUGANJIEYU capsules and two simulated ones twice a day. The study lasted 56 days (8 weeks) for both groups. Primary efficacies were evalu? ated by the total score and score changed rate of Hamilton depression scale-17 (HAMD-17)and Hamilton anxiety scale (HAMA) as well safety by reported adverse events and laboratory tests for patients. Results One hundred twenty patients were recruited in trial group and 120 patients in control group. After a 8-week treatment, the remission ratio was 84.2% and 63.3% for the trial group and the control group, respectively according to the HAMD-17. The differ?ence in the remission ratio was significant (P<0.05). Furthermore, the reduction rate of the total scores of HAMD-17 was 35.4% and 27.1% for the trial group and the control group at the 14th day of treatment, respectively, whereas 79.0%and 65.9%for the trial group and the control group at the 56th day. The reduction ratio was significantly higher in trial group than control group (P<0.01). The median time to response was 14 days in both groups. Based on the HA?MA, the remission ratio was 93.3%and 77.5%for the trial group and the control group respectively after 8 weeks and the difference in the remission ratio was significant between the two groups (P<0.05). Incidences of adverse effect were not significantly different between the two groups (17.5%vs. 11.7%, P>0.05). Conclusion SHUGANJIEYU capsule ex?hibits a good therapeutic effect on the depressive symptoms and anxiety symptoms in patients with moderate depres?sion. Double doses of SHUGANJIEYU capsule can increase the effect of SHUGANJIEYU and accelerates SHUGAN?JIEYU-induced improvement of depression symptoms with an acceptable safety.

ObjectiveTo study the effects of group BStreptococcus (GBS) colonization in late pregnancies on neonatal GBS infection.MethodsA total of 17 019 pregnant women who received antenatal care and delivered in Xiamen Maternal and Child Care Hospital from June 1, 2014 to May 31, 2015 were enrolled in this study. Secretions from the lower third of the vagina in the pregnant women at 35-37 weeks of gestation or having premature baby(regardless of gestational age) were obtained to test GBS by standard bacterial culture, and 1 472 cases underwent GBS DNA test by real-time fluorescent quantitative-polymerase chain reaction (PCR) meanwhile. The pregnant women colonized with GBS (GBS culture and/or PCR DNA test positive) were given intrapartum antibiotic prophylaxis (IAP) during parturition or rupture of fetal membranes. Detection rate of the two methods was compared, and the effects of GBS colonization and IAP on neonatal GBS infection were analyzed to identify the risk factors of neonatal early-onset GBS disease (GBS-EOD). Two independent samplest-test,Chi-square test and Logistic regression analysis were used for statistical analysis. ResultsThe detection rate of GBS culture and PCR DNA test was 14.43% (2 456/17 019) and 14.13%(288/1 472), respectively. The total colonization rate was 14.52%(2 472/17 019). Based on the culture results as golden criteria, the sensitivity, specificity, positive predictive value and negative predictive value of PCR assay were 95.05%, 98.74%, 92.31% and 99.21%, respectively. There were 17 332 deliveries from the 17 019 pregnant women, of which 31 cases had GBS-EOD. The incidence of neonatal GBS-EOD in maternal GBS colonization [1.05%(26/2 472)] was 31 times higher than in pregnant women without GBS colonization [0.34‰(5/14 547)]. Among the 31 infants with GBS-EOD, 24 had pneumonia, five had sepsis, and two had meningitis. The case fatality rate was 6.45%(2/31). Logistic regression analysis found that chorioamnionitis was an independent risk factor of neonatal GBS-EOD (OR=40.425, 95%CI: 7.514-379.782,P=0.000). Compared with the non-IAP group,IAP group had a lower incidence of GBS-EOD among the pregnant women colonized with GBS [0.94%(23/2 443) vs 10.34%(3/29),χ2=24.350,P<0.01].ConclusionsGBS colonization in late pregnant women has adverse effects. Therefore, routine maternal rectovaginal culture of GBS may be necessary and IAP should be applied in those with GBS colonization.

Humans ; Muscular Dystrophies, Limb-Girdle ; pathology

Objective To explore the clinical signiifcance of combined detection of thyroid stimulating hormone (TSH) and free thyroxin (FT4) in dried blood spots in screening for congenital hypothyroidism (CH) in neonates. Methods The TSH and FT4 levels in dried blood spot were measured by time-resolved lfuorescence immunity in live born neonates from June to December 2013. If the screening was positive, the blood was drawn and the serum TSH and FT4 were measured and compared with the results from dried blood spots. Results In a total of 31 199 neonates screened, 12 cases were diagnosed with CH and the prevalence rate of CH was 1/2 600;4 cases were hyperthyropinemia and no pituitary CH was detected. There was no signiifcant difference between TSH or FT4 levels in dried blood spot and those in serum in neonates diagnosed with CH (P>0.05). Conclusions Combined detection of TSH and FT4 in dried blood spot can be used for neonatal screening of CH. It can be applied for early distinguishing CH from hyperthyropinemia, and also helpful for early diagnosis and treatment of central CH.

ABSTRACT:In recent years ,there has been high prevalence of murine typhus in Yunnan Province ,People's Republic of China .A large outbreak of murine typhus occurred in Xishuangbanna Prefecture ,Yunnan Province in 2010 .However ,not all cases were confirmed by laboratory assays ;therefore ,field epidemiologic and laboratory investigations of murine typhus in Xishuangbanna Prefecture were conducted in 2011 .Blood samples were collected from clinical diagnostic cases at the acute and convalescence stages of murine typhus in Xishuangbanna Prefecture ,Yunnan Province ,from June to September of 2011 ,and blood and spleen samples were collected from mice sharing the same habitats as the patients .Immunofluorescence assays were used to test for the presence of IgM and IgG antibodies against Rickettsia typhi in sera from patients and mice .Real‐time PCR was used to detect the groEL gene of R .typhi in blood clots from patients at the acute stage and in spleen tissue from mice .A total of 1 157 clinically diagnosed murine typhus cases occurred in Xishuangbanna Prefecture ,Yunnan Province in 2011 ,with an incidence of 102 .10/100 000 .Of these cases ,80 were investigated by laboratory assays and 74 of 80 patients were confirmed to have murine typhus .The coincidence rate between the clinical diagnosis and laboratory detection was 92 .50% .The positivi‐ty rate for IgG antibodies against R .typhi was 14 .0% (14/100) for Rattus f lavipectus ,while the rate by PCR was 9 .0%(9/100) .That laboratory diagnoses confirmed that the severity of the murine typhus outbreak in Xishuangbanna cannot be ig‐nored .The distribution of host animals transmitting R .typhi underscores this conclusion .

OBJECTIVE: To observe the effect of hypothermia plasma radiofrequency ablation to the adhesion of nasal cavity after radiotherapy of nasopharyngeal carcinoma. METHOD: The subjective score combined with nasal ventilation function test were used to reflect the degree of patients with nasal adhesion. RESULT: There is a significant improvement in subjective feeling after treatment. Nasal cavity volume began to increase and nasal expiratory resistance decrease obviously 3M later. CONCLUSION Hypothermia plasma radiofrequency ablation technology can improve the nasal cavity adhesion in patients with nasopharyngeal carcinoma after radiotherapy, and also the patients quality of life.
Carcinoma ; Catheter Ablation ; methods ; Female ; Humans ; Hypothermia, Induced ; Male ; Nasal Cavity ; Nasopharyngeal Carcinoma ; Nasopharyngeal Neoplasms ; radiotherapy ; Nose ; Nose Diseases ; surgery ; Quality of Life ; Tissue Adhesions ; surgery

Objective To study the clinical efficacy of naloxone combined with edaravone on acute alcoholism. Methods One hundred and twenty-five patients with acute alcoholism were randomly divided into the control and treatment groups. The control group accepted conventional treatment and taking naloxone, while the treatment group accepted edaravone on the basis. Before and after treatment,the treatment recovery time,recovery respiratory rate time and symptom disappearance time were recorded. The malondialdehyde (MDA), superoxide dismutase (SOD), glutathione (GSH), neuron-specific enolase (NSE), S-100βand vascular cell adhesion points-1 (VCAM-1) were detected. Results After treatment,the recovery time and recovery respiratory rate time of the treatment group were significantly shorter than those of the control group ( <0.05) . In the control group, S-100β was significantly improved after treatment ( <0.05) . NSE, S-100β, VCAM-1 and MDA have significantly decreased ( <0.05) after treatment in the treatment group. Compared with the control group, there were significant differences of S-100β,VCAM-1 and MDA in the treatment group before and after treatment (<0.05) . While SOD and GSH have significantly increased ( <0.05) after treatment and showed significant differences compared with the control group ( <0.05) . Conclusion Naloxone and edaravone combination therapy can improve oxidative stress and nerve damage, which help early rehabilitation in patients with acute alcoholism.