Research progress on the interrelation between multiple chronic conditions and sleep disorders / 中华全科医师杂志

Multiple chronic conditions have become prominent health problems nowadays. There is a positive correlation between the number of chronic diseases and the risk of sleep disorders. Patients with sleep disorders will also be more difficult to control chronic diseases they have. Therefore, more attention should be paid to the sleep problems in patients with multimorbidity. This article discusses the interrelation between multimorbidity and sleep disorders from various dimensions, to provide a new vision for the prevention and treatment of sleep disorders in patients with multimorbidity.

Role of intestinal flora in metabolic-associated fatty liver disease / 临床肝胆病杂志

In recent years, more and more studies have shown that intestinal flora is critical to the development and progression of metabolic-related fatty liver disease (MAFLD). This article summarizes MAFLD-related intestinal flora and metabolites and their possible mechanisms of action in disease process. Although related intestinal flora and metabolites are expected to become new noninvasive diagnostic markers and therapeutic targets for MAFLD, their clinical application still requires more in-depth research. The development of modern high-throughput sequencing technology provides new ideas for research. The integrated analysis of multi-omics, such as genes, proteins, transcription, and metabolism, allows us to establish a comprehensive understanding of the microbial factors affecting MAFLD under the precision medicine system, so as to lay a foundation for targeted transplantation of intestinal flora and drug development for liver metabolic homeostasis.

A case of glycogen storage disease type Ⅰa with gout as the main clinical manifestation / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic etiology of a patient with glycogen accumulation type Ⅰa with gout as the main clinical feature.@*METHODS@#Clinical data of the patient was collected. The patient and her parents were subjected to next generation sequencing (NGS). Suspected pathogenic variation was verified by Sanger sequencing.@*RESULTS@#The patient, a 30-year-old women, mainly manifested hyperuricemia, chronic gouty arthritis, fasting hypoglycemia, hypertriglyceridemia, hyperlactatemia, hepatomegaly, urolithiasis, and gradually developed liver nodules and renal dysfunction. NGS revealed that she has carried c.648G>T (exon 5) and c.260delG (exon 2) compound heterozygous variants of the G6PC gene, which were respectively inherited from her father (phenotypically normal) and mother (with hyperuricemia). The c.260delG variant was unreported previously. Bioinformatic analysis indicated that both variants are pathogenic.@*CONCLUSION@#The compound heterozygous variants of the G6PC gene probably underlay the glycogen storage disease Ⅰa in this patient. G6PC gene mutations should be excluded in young women with hyperuricemia and /or gout.

Phylogenetic study of drug resistance genes from clinical isolates of Helicobacter pylori / 中华医学遗传学杂志

<p><b></b>To carry out phylogenetic analysis for drug-resistance genes from clinical isolates of Helicobacter pylori (Hp) among patients with gastric diseases from Tibet, China.</p><p><b>METHODS</b>Hp strains were isolated and cultured from saliva and gastric mucosal tissues derived from patients with gastric diseases. Nine strains (including 5 isolated from oral tissues, 1 isolated from gastric tissues, and 3 representative strains of SS international standard strains used for animal models) were tested for common antibiotic resistance. Together with an ACTT 11637 international standard strain, these were subjected to re-sequencing to obtain drug-resistance genes. Such genes from various sources were compared with the resistance genes of Hp strains recorded by the NCBI website. Combined with results of drug-resistance experiments, correlation between molecular evolution and drug-resistance was analyzed.</p><p><b>RESULTS</b>Testing of gastric mucosal tissues and salivary samples from 217 patients has found 89 Hp strains, which yielded a total infection rate of 41.01%. The resistance rates of 9 representative Hp strains for clarithromycin, amoxicillin, metronidazole, levofloxacin and tetracycline were 77.8%, 77.8%, 44.4%, 77.8%, and 77.8%, respectively. Compared with the reference strain, the similarity between clarithromycin-resistance genes was 99%, and that between amoxicillin- and metronidazole-resistance genes was 96%-97%. A2143G mutation was also found in clarithromycin-resistant genes of three Hp strains.</p><p><b>CONCLUSION</b>The sensitivity of Hp to metronidazole is much higher in patients from Tibet region, and the sensitivity of Hp to clarithromycin, amoxicillin, levofloxacin and tetracycline is poor. Resistance mutations are consistent with drug resistance.</p>

Establishment of electrochemiluminescence immunoassay to detect proinsulin levels in human serum / 中华检验医学杂志

]. Conclusions The monoclonal-based ECLIA is a sensitive, specific, and rapid method and no radiocontamination. It can be used to detect hanum serum proinsulin in type 2 diabetes.

Evaluation of aldosterone-renin ratio in the diagnosis for primary aldosteroulsm / 中华检验医学杂志

Objective To evaluate the diagnostic value of the aldosterone-renin ratio (ARR) for primary aldosteronism (PA). Methods Serum aldosteronos ( ALD ) and plasma renin activities (PRA)among 44 subjects with primary aldosteronism, 9 subjects with phecchromocytoma, 8 subjects with nonfunctional adrenal tumors, 12 subjects with Cushing syndrome, 4 subjects with stenosis of renal artery and 13 subjects with primary hypertension were retrospectively reviewed. ARR was calculated. The receiver operating characteristics (ROC) curves for every index were used to evaluate diagnostic value. Results The area under the curve(AUC) in the ROC curve of ALD in a supine position was 0. 947, the cut-off value of diagnosis of PA. The AUC for the ROC curve of ALD in upright position was 0. 889, the cut-off value of ALD diagnosis of PA. The AUC for the ROC curve of ARR in a supine position was 0. 978, the cut-off value of diagnosis of PA. The AUC for the ROC curve of ARR in upright position was 0. 981, the cut-off value of specificity. If ARR was combined with ALD in upright position was used, the diagnostic value was better than either index. When ALD > 275 ng/L and the AUC for the ROC curve in upright position was 0. 989,specificity. Conclusions The diagnostic value of ARR in diagnosis of primary aldosteronism is higher than ALD and PRA. ARR in upright position is better than that in supine position, especially when combined with ALD > 275 ng/L in upright position.

Different frequencies of B lymphocytes committed to produce anti-thyrotropin receptor antibodies in patients at different clinical stages of Graves' disease / 免疫学杂志

Objective To investigate the relationship between the TRAb-producing cell precursors and different clinical stages of Graves' disease.Methods Peripheral lymphocytes were infected with Epstein-Barr virus,a kind of lymphocyte precursor stimulator,and were stimulated to produce TRAb.Results Of the total wells containing Ig-producing B cell precursors,there were 34.6% and 29.1% from 2 untreated patients,30% from 1 relapsing patient and only 1.3% and 3.8% from 2 healthy controls that secreted TRAb,respectively.As for the wells containing B cell precursors from 2 remission patients with undetectable TRAb in circulation,the percentage (10.7%) of TRAb-containing wells from one was higher than that from the other (5.3%).And the latter had similar percentage of TRAb-positive wells with the controls.The isotype of TRAb in supernatants of our EBV-transformed B lymphocytes was predominantly IgM.Conclusion The frequencies of TRAb-specific precursors were different at three distinct clinical stages of the disease.