Objective:To investigate the clinical and genetic characteristics of peroxisome D-bifunctional protein deficiency (PDBPD) associated with HSD17B4 mutation. Methods:The clinical and genetic characteristics of 2 cases of PDBPD in August 2020, at Children′s Hospital Affiliated to Nanjing Medical University caused by HSD17B4 gene mutation were retrospectively analyzed. Results:Male proband and his sister suffered from neonatal epilepsy, psychomotor development disorders, ataxia, myasthenia, hearing impairment, and foot deformity.The very long chain fatty acids in serum were normal, and brain magnetic resonance imaging (MRI) showed bilateral cerebellar hemisphere atrophy.Electromyography suggested changes in the myoelectricity of multiple peripheral neurogenic lesions.Auditory evoked potential displayed severe bilateral sensorineural hearing loss.Exome sequencing identified compound heterozygous mutations (c.1171G > C, c.686-2A>T) in HSD17B4.The clinical diagnosis was PDBPD, aged 8 and 14 years, respectively. Conclusions:Two cases of HSD17B4 mutation-induced PDBPD were first reported in Chinese mainland, which was in line with its typical clinical manifestations.The newly discovered c. 1171G> C and c. 686-2A>T mutations enriched the HSD17B4 mutation spectrum.

Objective To investigate the incidence and related risk factors of post-traumatic stress disorders (PTSD) after acci-dents in the Pearl River Delta .Methods Inpatients after accidents from April 2009 to February 2010 in seven hospitals of the Pearl River Delta cities ,such as Guangzhou ,Shenzhen and Zhuhai ,were surveyed with PTSD Checklist-Civilian Version (PCL-C) and self-made questionnaire .Results In a total of 554 post traumatic patients ,a prevalence of 28 .5% of PTSD symptoms were found in this region with 7 .8% (marks≥50) of severe degree and 20 .8% (marks :38-49) of mild to moderate degree .In the severe PTSD symptoms group ,the top three items were getting nervous and upset once faced similar situation ,difficulty sleeping or easy to be a-wake ,and the trauma experience caused recurring disturbing memory ,ideas or image .Multivariate analysis showed that female ,una-ble self-care ,incapable of working ,lack help from friends ,multiple injury ,and injury time longer were all associated with the PTSD symptom incidence .Conclusion The prevalence of PTSD symptoms is relatively high in injured patients after accidents in the Pearl River Delta .Early identification and intervention of PTSD symptoms in post-traumatic patients are important for the prevention of PTSD .

Objective:To study the effect of macrophage colony stimulating factor (M-CSF) in the nucleus on the proliferation and invasion ability of cervical cancer cells and its possible mechanisms.Methods:Using the HeLa cell line with stable expression of M-CSF in the nucleus as the model, the proliferation ability of the cells was detected using bromodeoxyuridine (BrdU) labeled deoxyribonucleic acid (DNA) replication analysis, and the invasiveness of the cells was detected using Transwell cells; Western blot was used to detect the expression of nuclear protein transcription factor κB p65 (NF-κB p65) and total cell protein matrix metalloproteinase-2 (MMP-2).Resultsl:The proliferation and invasion ability of HeLa cells stably expressing MCSF in the nucleus were significantly enhanced ( P<0.05, P<0.01), and the expression of NF-κB p65 and MMP-2 was increased (all P<0.05). Conclusions:Intranuclear MCSF can promote the proliferation and invasion ability of cervical cancer cells, and its mechanism is related to the upregulation of NF-κB p65 and MMP-2 expression.

Extracorporeal membrane oxygenation(ECMO),an effective extracorporeal circulation support system,holds significant importance in the treatment of severe cardiovascular and pulmonary diseases.Effective fixation of ECMO catheters can prevent adverse events such as displacement and accidental extubation,thereby ensuring the effectiveness and continuity of ECMO treatment.At present,various tools such as transparent dressings,surgical dressings,and bandages are commonly used in clinical practice.However,there are problems such as insufficient fixation,unattractive and tidy appearance,and inconvenient replacement.There is still a lack of specific and effective dressings to fix ECMO catheters.Therefore,the medical staff from department of critical care medical of Hospital of Chengdu University of Traditional Chinese Medicine designed ECMO dressing,and obtained the National Utility Model Patent of China(patent number:ZL 202120543021.3),which includes 3 parts:upper dressing,middle dressing,and lower dressing with weak connections in sequence.The top surface of the upper dressing is the upper dressing layer,which is marked with a first scale.The middle part of the bottom surface of the upper dressing layer is fixed with a gauze layer.The top surface of the middle dressing is the middle dressing layer,and the bottom surface of the middle dressing layer is fixedly equipped with a mesh layer along the edges of the 2 length directions.There is a cutting gauze between the 2 mesh layers,and the 2 length edges of the cutting gauze are fixedly connected to the mesh layer.There is a plastic film between the cutting gauze and the middle dressing layer,and cracks are evenly spaced along the length direction of the cutting gauze.The top surface of the middle dressing layer is marked with a second scale.There is an opening at the connection between the lower dressing and the middle dressing,and the bottom surface of the lower dressing is an adhesive layer.This utility model,simple design,good fixing effect,convenient replacement,can avoid catheter slippage and displacement,reduce the occurrence of pressure-related injuries to instruments,and improve the quality of clinical work.It is worth promoting and applying in clinical practice.