Objective To analysis the clinical features, diagnosis and treatment of Hutchinson-Gilford progeria syndrome (HGPS). Methods The clinical data and gene testing results of HGPS in two brothers in the same family were retrospectively analyzed. The related literatures were reviewed. Results The proband was 15 years old, and his younger brother was 6 years old. Both of them presented premature appearance at 4 years old and 1 year-old respectively. Both of them suffered from underweight, short stature, reduced subcutaneous fat, bird face (prominent eyes, facial skin, scalp veins exposure, hook and prominent nose, mandibular stenosis). In addition, their trunk and limbs skin was relaxation, and they had ankylosis,and shrill voice etc.In both of them,the compound heterozygous mutation of NBAS gene(c.4081C>T,c.5741C>T)were found by full sequence exon sequencing, which were inherited from their father and mother respectively. The literature review suggested that NBAS gene mutation was associated with the diseases with main phenotype of short stature and optic atrophy.Conclusions It is reported two cases of HGPS caused by NBAS gene mutation.It is rare that two brothers have HGPS.

Objective To investigate the feasibility of reducing CT scanning dose in the process of 125I radioactive seed implantation.Methods GEMS phantom and 062 M phantom were scanned using GE Lightspeed RT large hole CT with 120 kV,100 kV and 80 kV separately,and 150-10 mA (20 mA decreased progressively).The scanning dose,CT value and noise of the region of interest were recorded and the image quality was evaluated.Image signal-to-noise ratio (SNR) and contrast to noise ratio (CNR) values were calculated.Results With the decreasing of tube voltage and current,the SNR values were reduced accorgingly.The values had significant difference with those of standard images except the images acquired with 120 kV,150-70 mA and 100 kV,150-90 mA (t =-9.294-3.717,P ＜0.05).With the decreasing of the tube voltage and current,the CNR decreased significantly.The image quality was too low to evaluate while CNR lower than 2.The high contrast resolution of the CT images were not affected obviously with the tube voltage and current lowering.Conclusions In the process of 125I radioactive seed implantation,it is feasible to choose lower tube voltage and tube current(100 kV,70 mA) to scan the same area repeatedly except for the first scan with standard chest scanning parameters.The patient radiation dose has fallen dramatically.

Objective:To analyze the correlation between nutritional status and frailty and sarcopenia in geriatric inpatients (GIPs) planning to receive major hepatopancreatobiliary (HPB) surgery.Methods:From December, 2020 to September, 2022, GIPs who were planning to receive major HPB surgery were recruited. Nutritional assessment was performed using nutritional risk screening 2002 (NRS-2002) and Global Leadership Initiative on Malnutrition (GLIM) criteria. Frailty and sarcopenia assessment were performed using Fried frailty phenotype (FFP) and Asian Working Group for Sarcopenia (AWGS) 2019 consensus on sarcopenia diagnosis and treatment. The prevalence and concurrence of malnutrition, frailty and sarcopenia were investigated, and the correlation between nutritional status and frailty and sarcopenia was analyzed.Results:A total of 144 participants at the mean age of (70.10±7.44) years were included. The prevalence of nutritional risk, malnutrition, and severe malnutrition were 73.6% ( n ?=?106), 68.1% ( n ?=?98), and 34.7% ( n ?=?50) respectively. The prevalence of frailty was 20.8% ( n ?=?30) and that of sarcopenia was 35.4% ( n ?=?51). The prevalence of severe malnutrition increased significantly in older participants and the prevalence of nutritional risk, malnutrition and severe malnutrition decreased significantly with higher BMI. The prevalence was 35.4% (51/144) for concurrent sarcopenia and malnutrition, 19.4% (28/144) for frailty and malnutrition, 14.6% (21/144) for sarcopenia and weakness, and 14.6% (21/144) for sarcopenia, malnutrition, and weakness. There was a positive correlation between nutritional risk and frailty ( r = 0.603, P < 0.001). The risk of pre-frailty and frailty in the nutritional risk group was higher than that in the non-nutritional risk group ( χ 2 = 31.830, P < 0.001). The risk of pre-frailty and frailty in the malnutrition group was higher than that in the normal nutrition group ( χ 2 = 36.727, P < 0.001). Logistic regression analysis showed that the risk of frailty in patients with severe malnutrition was 12.303 times higher than that in patients with normal nutrition status (95% CI: 2.592 to 58.409, P = 0.002). The risk of sarcopenia in the nutritional risk group was higher than that in the non-nutritional risk group ( χ 2 = 13.982, P < 0.001). The risk of sarcopenia in the malnutrition group was higher than that in the normal nutrition group ( χ 2 = 37.066, P < 0.001). Conclusions:The prevalence and concurrence rate of malnutrition, frailty, and sarcopenia are high in GIPs undergoing major HPB surgery. GIPs with malnutrition are susceptible to frailty.

Objective To evaluate the clinical experience of extracorporeal membrane oxygenation (ECMO) treatment on two cases of infection with the critical Corona Virus Disease 2019 (COVID-19) complicated by fulminant myocarditis (FM) . Methods This study selects two COVID-19 cases comorbid with fulminant myocarditis and had been treated with ECMO in Shenzhen Third People's Hospital from January 2020 to February 2020. We compare the index of inflammation, immunization, D-dimer and lactic acid before and after ECMO treatment in 24 and 96 hours, cardiopulmonary function before and after ECMO treatment in 24, 48, 72, 96 hours,. We also analyze the complications and clinical outcomes of the two cases during the ECMO treatment. Results Both patients were elderly obese men with chronic cardiopulmonary disease. Comparing the laboratory test results and imaging data of the two patients, the acute lung injury score, oxygenation index, albumin level, hypersensitive C-reactive protein, lactate and lactate dehydrogenase levels in 2 patients after ECMO treatment were improved as compared with those before ECMO treatment. Finally, case 1 died of multiple organ failure and his cardiac function continued to deteriorate, while, case 2 successfully withdrew and his cardiac function gradually improved. Conclusions For critical COVID-19 patients with fulminant myocarditis, ECMO treatment can improve pulmonary function in the short term, provide valuable time for rescuing COVID-19 patients with fulminant myocarditis.