Hutchinson-Gilford progeria syndrome (HGPS) is a rare disease mainly characterized by accele-rated aging, with an incidence rate of 1 in 8 million to 1 in 4 million.It can affect the skin, fat, cardiovascular, bone and other organ systems.Most HGPS children can only live to 6-20 years old, with an average life expectancy of only 14.6 years.HGPS has distinctive clinical features, such as severe growth retardation, special skin manifestations, and craniofacial manifestations.The prognosis of this disease is poor, and no treatment has been proven effective so far.Upon the diagnosis, the progress of the disease should be observed and monitored via long-term and careful follow up, so as to extend the life span of the children as much as possible.In this article, the disease type, clinical manifestations, pathogenesis and clinical examination of HGPS were reviewed.

The incidence of venous thromboembolism after spinal cord injury is high, and its diagnosis and prevention received much attention in clinical research in recent years. Because of the special characteristics, the prevention of venous thrombosis should be combined with basic prevention, physical prevention and drug prevention. According to the different situations of venous thromboembolism in patients with spinal cord injury, the prevention methods need to adjust to carry out multidisciplinary comprehensive treatment.

Objective To evaluate the relationship between sternum protection and bone marrow suppression in postoperative radiotherapy for esophageal carcinoma. Methods Total of 98 postoperative patients with thoracic esophageal carcinoma were randomly divided into experimental group (52 cases) and control group (46 cases). All patients were given intensity-modulated radiotherapy (IMRT), with the dose of 50-50.4 Gy. The patients in experimental group were irradiated by 6 fields (4-fields in front, 2-fields behind) which were crossed to avoid direct exposure to the sternum. The patients in control group were irradiated by 5 fields (3-fields in front, 2-fields behind) with front-middle of the field passing through the sternum. Concurrently all patients received 2 cycles of cisplatin chemotherapy. Results Dmean, V20 and V30 of the sternum in the experimental group were (20.21 ±3.60) Gy, (40.78 ±7.19) % and (33.78 ±9.44) %, which were lower than those in the control group [(30.91±5.21) Gy, (81.01±4.81) %, (51.60±6.84) %], respectively (P<0.05). However, the volume and dose distribution of lung, spinal cord and heart were similar between the two groups (P> 0.05). Both the incidence rates of bone marrow suppression at 14th day and 35th day after radiotherapy were significantly higher in the control group (52.2%, 73.9%) than those in the experimental group (28.8 %, 50.0 %) (P< 0.05), and the incidence rate of bone marrow suppression at 7th day after radiotherapy was similar between the two groups. Conclusion Protecting and sketching for sternum in postoperative radiotherapy for esophageal carcinoma can reduce the incidence of bone marrow suppression effectively, which would not increase the radiation dose in the lung, heart and spinal cord.

Objective To explore the effects of low dose amitriptyline (AMT) on gastrointestinal function and its adverse effects in healthy volunteers.Methods In this randomized,double-blind,placebo-controlled cross-over study,28 healthy volunteers were divided into AMT with placebo group (n=14) and placebo with AMT group (n=14).The former took AMT for seven days at first stage,followed with a 14 days wash out stage and then took placebo for seven days at second stage.Patients of the latter group took medication in reverse order.The dose of medication was 12.5 mg three times per day.The subjects underwent drinking-ultrasonography test and lactulose hydrogen breath test before taking medication and between the seventh and eighth day of first and second stage.The data were analyzed by two stages cross-over analysis,Wilcoxon signed-rank test and chi-square test.Results The results of drinking-ultrasonography test showed that there were no significant differences in proximal gastric cross-sectional area between AMT and placebo after drinking 200,400,600 and 800 mL water (all P＞ 0.05).After drinking 800 mL water,there were no significant differences in gastric liquid emptying rate between AMT and placebo at the fifth and the tenth minutes (both P＞0.05).After drinking 600 mL and 800 mL water,the visual analogue scale (VAS) of AMT was significantly lower than that of placebo (2.98±0.85 vs 3.57±0.94,Z=4.412,P＜0.01; 4.57±0.98 vs 5.57±0.82,Z=4.170,P＜0.01).The results of lactulose hydrogen breath test revealed that orocecal transit time of AMT was obviously longer than that of placebo ((109.29±29.68) min vs (96.61±23.90) min,F=9.918,P＜0.01)).The common adverse effects were mild sleepiness,bitter taste and dry mouth.Conclusions Low dose AMT can prolong orocecal transit time and improve gastric sensitivity,but can not significantly affect proximal gastric accommodation and gastric liquid emptying.The adverse effects are mild and the safety is good.

Objective To summarize experience of nursing for thoracic breathing reconstruction in patients after cervical spinal cord in-jury (CSCI). Methods 6 cases accepting thoracic breathing reconstruction in our hospital from March 2013 to June 2014 were reviewed from 1 week before operation to 4 weeks after operation. Results All the patients, aged (41.7 ± 16.2) years, received tracheotomy (6.0 ± 5.8) days after injury because of weakened cough, retention of respiratory secretions and dyspnea;the ventilator was used for (45.3±25.9) days, and they received thoracic breathing reconstruction surgery (84±26.7) days after injury. Their vital capacity was (1085±92) ml before opera-tion and was (1680±283) ml 2 weeks after operation with 55%increment (P<0.01). Only 1 patient underwent a delayed wound healing. No pulmonary infection, urinary tract infections and pressure sore occurred until 4 weeks after operation. Conclusion Enhancement of airway care and prevention of pressure sore are the keys to reduce postoperative complications of thoracic breathing reconstruction.

OBJECTIVETo investigate the expression of beta-dystroglycan (beta-DG) and the roles of tissue inhibitor of metalloproteinases (TIMPs) on beta-DG in salivary adenoid cystic carcinoma (SACC).

METHODSbeta-DG in highly lung metastatic cell line ACC-M and lowly lung metastatic one ACC-2 was tested by immunocytochemistry with different concentrations (10, 15, 20, 25 micromol x L(-1)) of TIMPs, and that without the regulation of TIMPs was served as controls. beta-DG was detected in seven specimens of SACC and ten cases of normal salivary gland tissues which were considered as a comparison group by immunohistochemistry.

RESULTSThere was no positive beta-DG immune-staining at the ACC-2 and ACC-M cell lines without TIMPs in the cell culture. beta-DG expressed after the regulation of TIMPs. beta-DG expression was localized predominantly in basement membrane of the acinus, while the negative results were distributed in the carcinoma cells and around the cancer cell nests.

CONCLUSIONBeta-DG is widely expressed by transmembrane protein that plays important roles in connecting the extracellular matrix to the cytoskeleton, the fracture of this structure means that it is easy to invade and transfer, so restoration of beta-DG expression by TIMPs is considered to be critical for successful treatment of SACC.

Objective To analyze the clinical and pathological characteristics of Alport syndrome in children. Methods Clinical and pathological information gathered from 62 patients during March 1989 to August 2012 was retrospectively analyzed. Results Four autosomal recessive Alport syndromes (AR-AS) and 58 X-linked Alport syndromes (XL-AS) were analyzed. Of the XL-AS, 47 were boys and 11 were girls. Most of patients induced by upper respiratory tract infections, and onset with hematuria and proteinuria. There was no signiifcant gender difference in family history, impaired renal tubular proteins, hypertension, im-paired renal function, hearing loss, ocular abnormalities or renal pathological changes under light microscopy. However, extensive lamination and split of glomerular basement membrane (GBM) dense layers were found in 83.0%male and 18.2%female patients (P=0.000) and the rest patients were presented with limited distribution of typical GBM changes. Proteinuria progressed signiif-cantly with age in XL-AS males (r=0.501, P=0.000). Five XL-AS patients developed to end stage renal disease (ESRD) between 11 to 16 years old. Conclusions XL-AS is the main inherited type and severe changes of GBM are common in XL-AS males. Proteinuria increases remarkably with age. The detection of type IV collagen in renal tissue or skin is helpful to diagnose Alport syndrome and conifrm inheritance modes.

A simple, reliable and sensitive liquid chromatography-isotope dilution mass spectrometry (LC-ID/MS) was developed and validated for quantification of olanzapine in human plasma. Plasma samples (50 microL) were extracted with tert-butyl methyl ether and isotope-labeled internal standard (olanzapine-D3) was used. The chromatographic separation was performed on XBridge Shield RP 18 (100 mm x 2.1 mm, 3.5 microm, Waters). An isocratic program was used at a flow rate of 0.4 m x min(-1) with mobile phase consisting of acetonitrile and ammonium buffer (pH 8). The protonated ions of analytes were detected in positive ionization by multiple reactions monitoring (MRM) mode. The plasma method, with a lower limit of quantification (LLOQ) of 0.1 ng x mL(-1), demonstrated good linearity over a range of 0.1 - 30 ng x mL(-1) of olanzapine. Specificity, linearity, accuracy, precision, recovery, matrix effect and stability were evaluated during method validation. The validated method was successfully applied to analyzing human plasma samples in bioavailability study.

Blockchain technology has the advantages of decentralization, secure sharing and tamper resistance, and high privacy, which can solve the current problem of sharing electronic medical records in medical institutions in China. A tertiary hospital established an electronic medical record sharing services convenience service platform based on blockchain in collaboration with China mobile gansu company in September 2021. The hardware architecture of the platform consisted of a hospital data warehouse, a local front-end computer and a blockchain platform. The functional architecture included platform front-end services, the blockchain electronic medical record archiving and service platform. The technical architecture included the underlying blockchain, service layer, interface layer and application layer, which was embedded with asymmetric encryption technology, hash algorithm, smart contract and other technical means, ensuring data ownership and on-demand, controllable, real-time and secure sharing of data. Since the operation of the platform in September 2021, as of October 2022, a tertiary hospital had accumulated 21 545 patient medical records on the chain. The overall operation of the platform was smooth, achieving reliable storage and secure sharing of patient electronic medical records, providing reference for further promoting the interconnection trusted sharing of electronic medical records in medical institutions in China.