We represented a 22-year-old male patient who developed rhabdomyolysis,acute kidney failure and acute hepatic failure and was finally diagnosed as multiple acyl-CoA dehydrogenase deficiency.The patient appeared temporary stable status after high dose vitamine-B2 supplement whereas deterioration was still fatal with pulmonary infection,acute respiratory failure and acute heart failure.

OBJECTIVETo organize the clinical practice guidelines (CPGs) related to acupuncture included in the National Guideline Clearinghouse (NGC) to systematically summarize the diseases and disorders most commonly treated with acupuncture, the strength of recommendations for acupuncture and the quality of evidence.

METHODSThe NGC database was systematically searched for guidelines that included acupuncture as an intervention. Two independent reviewers studied the summaries and the full texts of the guidelines and included guidelines based on the inclusion and exclusion criteria. Thirty-nine guidelines were collected with 80 recommendations. The Appraisal of Guidelines for Research and Evaluation (AGREE) II instrument was used to assess the quality of these guidelines.

RESULTSOf the 80 recommendations on acupuncture, 49 recommendations were clearly for acupuncture, 25 recommendations were against acupuncture and 6 recommendations did not indicate any clear recommendations, 37 recommendations were for painful diseases/disorders, and 12 recommendations were for non-painful diseases/disorders. Locomotor system disorders were the most common in the painful diseases/disorders category. Out of all the recommendations for acupuncture, most recommendations (87.76%) were weak in strength, and most of the evidence (40.84%) was of low quality.

CONCLUSIONSIn the National Guideline Clearinghouse, the recommendations for acupuncture focus on painful diseases/disorders. The recommendations in the guidelines are not high in strength, and most of the evidence is moderate or low in quality.

Objective To investigate the differences in platelet and platelet parameters between patients with different types and etiologies of acute-on-chronic liver failure (ACLF) and the influence of platelet and its dynamic change on the prognosis of ACLF patients. Methods Clinical data, liver function parameters, platelet, and platelet parameters were collected from 364 patients with ACLF who attended Tianjin Third Central Hospital from January 2014 to December 2018. Platelet level and platelet parameters (platelet distribution width and mean platelet volume) were compared between the patients with different types and etiologies of ACLF, and their influence on the 90-day mortality rate of ACLF patients was analyzed, as well as the association of the dynamic change of platelet at baseline and on days 7 and 14 after admission with the prognosis of patients. The chi-square test was used for comparison of categorical data between groups; the Kruskal-Wallis H test or Mann-Whitney U test was used for comparison of continuous data between groups; the Kaplan-Meier method was used for survival analysis; the univariate and multivariate Cox regression analyses were used to analyze the parameters associated with prognosis; the repeated measures analysis of variance was used to analyze the dynamic change of platelet; receiver operating characteristic (ROC) curve was plotted based on platelet level and overall survival. Results The patients with type C ACLF had a significantly lower platelet level than those with type A/B ACLF (all P < 0.001). Compared with the ACLF patients with hepatitis B, the ACLF patients with autoimmune liver diseases had a significant reduction in mean platelet volume ( P =0.035). Based on the cut-off value obtained by the ROC curve analysis, the patients with a platelet level of < 60.5×10 9 /L had a significantly higher mortality rate than those with a platelet level of ≥60.5×10 9 /L ( P =0.006). Platelet level was an independent protective factor against 90-day death in ACLF patients (hazard ratio=0.995, 95% confidence interval: 0.990-0.999, P =0.026), and the mortality rate increased with the reduction in platelet level. The patients with type C ACLF had a significantly higher mortality rate than those with type A ACLF ( P < 0.05), and the death group tended to have a significantly greater reduction in platelet level ( P < 0.05). Compared with the survival group, the 90-day death group had a significantly greater reduction in platelet ( P =0.032). Conclusion There is a difference in platelet level between ACLF patients with different types. Platelet level is an important indicator for the 90-day prognosis of ACLF patients, and patients with a greater dynamic reduction in platelet tend to have a higher 90-day mortality rate.

BACKGROUNDMedullary cystic kidney disease (MCKD) is clinically indistinguishable from several other autosomal-dominant renal diseases; thus, molecular genetic testing is needed to establish a definitive diagnosis. A specific type of single cytosine insertion in the variable number tandem repeat (VNTR) of the mucin 1 (MUC1) gene is the only known cause of MCKD1; however, genetic analysis of this mutation is difficult and not yet offered routinely. To identify the causative mutation/s and establish a definitive diagnosis in a Chinese family with chronic kidney disease, clinical assessments and genetic analysis were performed, including using a modified genotyping method to identify the MUC1- VNTR single cytosine insertion.

METHODSClinical data from three patients in a Chinese family with chronic kidney disease were collected and evaluated. Linkage analysis was used to map the causative locus. Mutation analysis of uromodulin (UMOD) gene was performed using polymerase chain reaction (PCR) and direct sequencing. For MUC1 genotyping, the mutant repeat units were enriched by MwoI restriction, and then were amplified and introduced into pMD-18T vectors. The 192 clones per transformant were picked up and tested by colony PCR and second round of MwoI digestion. Finally, Sanger sequencing was used to confirm the MUC1 mutation.

RESULTSClinical findings and laboratory results were consistent with a tubulointerstitial lesion. Linkage analysis indicated that the family was compatible with the MCKD1 locus. No mutations were found in UMOD gene. Using the modified MUC1 genotyping method, we detected the MUC1-VNTR single cytosine insertion events in three patients of the family; and mutation-containing clones were 12/192, 14/192, and 5/96, respectively, in the three patients.

CONCLUSIONSClinical and genetic findings could support the MCKD1 diagnosis. The modified strategy has been demonstrated to be a practical way to detect MUC1 mutation.