Advances in diagnosis and treatment of Wolfram syndrome and related molecular mechanism / 中华预防医学杂志

Wolfram syndrome is a rare genetic spectrum disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, accompanied by other variable clinical manifestations. At present, the prognosis of this syndrome is very poor, the specific molecular mechanism is not clear, effective treatments are lacking to delay, prevent or reverse the development of Wolfram syndrome, and many patients die prematurely due to severe neurological dysfunction. This increases the urgency of the research on the pathogenic molecular mechanism related to Wolfram syndrome and the development of new therapies. This article summarizes the research progress on the pathogenic molecular mechanism and treatment status of Wolfram syndrome, in order to provide reference for the further mechanism research, prevention and treatment of Wolfram syndrome.

Application guidelines and research progress of biomarkers for Alzheimer's disease / 中华预防医学杂志

Alzheimer's disease (AD) is an age-related neurodegenerative disorder. It is expected that the incidence of AD will increase exponentially in the coming decades. The clinical and research application of AD biomarkers has gone through a long process. At present, the clinical diagnostic criteria for AD mainly include the IWG-2 criteria developed by International Working Group (IWG), the NIA-AA criteria formulated by the National Institute on Aging and Alzheimer's Association (NIA-AA) and the "Guidelines for the Diagnosis and Treatment of Alzheimer's Disease in China (2020 version)" released by the Professional Committee on Alzheimer's Disease and Related Diseases of the Chinese Geriatric Health Care Association (Alzheimer's Disease Chinese, ADC). Cerebrospinal fluid biomarkers such as Aβ42, T-tau and P-tau are recognized as central biomarkers for AD, besides, the development of new molecules in other pathophysiological pathway that can be used as biomarkers for the diagnosis of AD have made great progress in the last decade. This article elaborates studies of the application guidelines of AD biomarkers and highlights the research progress of biomarkers in AD pathophysiological pathway.

External Quality Analysis of Quality Indicators on Specimen Acceptability / 现代检验医学杂志

Objective To analyze the status of quality indicators(QI) on specimen acceptability and establish preliminary qual ity specification.Methods Web based External Quality Assessment system was used to collect data of laboratories partici pated in "Medical quality control indicators in clinical laboratory" from 2015 to 2017,including once in 2015 and 2017 and twice in 2016.Rate and sigma scales were used to evaluate incorrect sample type,incorrect sample container,incorrect fill level and anticoagulant sample clotted.The 25th percentile (P25) and 75th percentile (P75) of the distribution of each QI were employed to establish the high,medium and low specification.Results 5 346,7 593,5 950 and 6 874 laboratories sub mitted the survey results respectively.The P50 of biochemistry (except incorrect fill level),immunology and microbiology reach to 6σ.The P50 of clinical laboratory is 4 to 6σ except for incorrect sample container.There is no significant change of the continuous survey results.Based on results in 2017 to establish the quality specification,the P25 and P75 of the four QIs is 0 and 0.084 4 ％,0 and 0.047 6 ％,0 and 0.114 2 ％,0 and 0.078 4 ％,respectively.Conclusion According to the results of the survey,most laboratories had a faire performance in biochemistry,immunology and microbiology,and clinical laboratory needs to be strengthened.Laboratories should strengthen the laboratory information system construction to ensure the actual and reliable data collection,and make a long time monitoring to achieve a better quality.

Numerical simulation on the flow characteristics of upper airway in a representative male OSAHS patient / 医用生物力学

Objective To study the flow characteristics of the upper airway and force dynamics of the soft palate and uvula in a representative male OSAHS (obstructive sleep apnea hypopnea syndrome) patient during normal respiration. Methods A CT image-based reliable geometry model of the upper airway was established. Numerical simulation boundary conditions were determined by clinical data of sleep monitoring, and the low-Reynolds number turbulence model was adopted to calculate the flow movement during a complete respiration period. Results The flow characteristics of the upper airway were obviously different in the breathing process of OSAHS patient. During inspiration, the maximum velocity of airflow in the upper airway reached 9.808 m/s, and the maximum negative pressure of airflow reached -78.856 Pa. Backflow districts were found at top of the nasal cavity. The maximum pressure on the soft palate was -10.884 Pa, and that on the uvula was -51.946 Pa. The maximum shear stress on the soft palate and uvula was 78 and 311 mPa, respectively. During expiration, the maximum velocity of airflow in the upper airway was 10.330 m/s, and the maximum negative pressure was -51.921 Pa. Backflow was observed to appear both at the oropharynx and top of the nasal cavity. Specifically, clockwise backflow was remarkable at the oropharynx. The maximum pressure on the soft palate was 2.603 Pa, and that on the uvula was -18.222 Pa. The maximum shear stress on the soft palate and uvula was 51 and 508 mPa, respectively. Conclusions Oropharynx is most likely to collapse in the upper airway. Numerical simulation on the respiratory cycle can capture the salient backflow features of the flow field in the upper airway. The backflow in the upper airway directly affects the forces on the soft palate and uvula and the breathing fluency of OSAHS patients.

Numerical analysis on rat model of OSAHS and its upper airflow characteristics simulation / 医用生物力学

Objective To study the modeling method of rat model and the air flow characteristicwith its upper stenosis-airway. Methods Thirty-two 3-month old rats were randomly divided into two groups: the control group and the model group. For the model group, sodium hyaluronte of 0.1 mL was injected into mucosa of the soft palate and uvula in each rat under the anesthetic state. After feeding under the same condition for 3 months, CT scans and respiratory experimental examinations were performed on the two groups, respectively. The computational fluid dynamic (CFD) method was then employed to simulate the airflow in their upper airway. The flow characteristics were compared between the control rat and the model rat. Results (1) The minimum cross-sectional area of pharyngeal in the model group was reduced remarkably than that of the control group, showing that the airway of the model rats was significantly narrower than that of the control rats (P<0.05). (2) The model rats became breathless, and their respiratory period became unsteady. The breath intensity of the model rat on the pharynx fluctuated more rapidly. (3) The maximum wall shear stress on the pharynx of the control rat was scattered at the respiratory phase while it was concentrated for the model rat. Conclusions The injection of sodium hyaluronte into mucosa of the soft palate and the uvula can induced the narrowness of the upper airway in the model rat, which is similar to patients with obstructive sleep apnea-hypopnea syndrome (OSAHS) in pathology. The narrowness of the upper airway can cause dyspnea and extend respiratory period. The shear stress on the pharynx of the upper stenosis-airway induces stronger damage to the pharynx tissue, especially to the soft palate and uvula, which aggravates reconstruction of the pharynx tissue.

Establishment of perfusion technique for isolated rat pancreas / 中华内分泌代谢杂志

Objective To establish an isolated rat pancreas perfusion technique,a method for the precise measurement of insulin secretion in vitro.Methods An isolated rat pancreas perfusion technique was applied in the study of insulin secretion from?-cells in 10 high-fat diet-induced obese Wistar rats.Results For the assessment of the functional integrity of the perfused pancreas,the isolated pancreas of 6 rats met all the criteria: (1)The constancy of perfusion pressure was kept over the whole experiment time[(70?5)mm Hg,1 mm Hg= 0.133 kPa].(2)The duodenal peristaltic activity of isolated pancreas and duodenum block was present after perfusion experiment.(3)Total insulin response to arginine stimulation was significantly increased as compared with glucose stimulation[maximum insulin secretion rate:(987?100)?U/min vs(545?50)?U/min,P