Objective:To study the clinical and genetic features of neonatal Smith-Kingsmore syndrome (SKS).Methods:The clinical data of a newborn with SKS admitted to our hospital in November 2021 were reviewed. Using "Smith-Kingsmore", "rapamycin gene", "newborn", "premature infant", "the mammalian target of rapamycin", "MTOR", "mTOR", "Smith-Kingsmore syndrome", "megalencephaly", "macrocephaly" and "hemimegalencephaly" as keywords, databases including CNKI, Wanfang Database, VIP database, PubMed, Embase, Web of Science and the Cochrane Library were searched from the date of establishment to January 1, 2022. The clinical and genetic features of neonatal SKS from published literature were summarized.Results:The case admitted to our hospital was a male preterm infant. The presenting symptoms were groan and hypotonia. The facial abnormalities included macrocrania, ocular hypertelorism, depressed nasal bridge and low-set ears. Brain MRI showed lateral ventricle enlargement. Whole-genome sequencing (WGS) showed mTOR gene nonsense heterozygous mutation (NM_004958.4:c.7255G>A:p.Glu2419Lys). Neither father nor mother had any pathogenic gene mutations. The infant had seizure at 2-month and phenobarbital was effective reducing seizure. Gross motor delay was present at 3-month. Sixteen related articles were retrieved, including eight articles with 10 neonatal cases. Among them, 6 cases were male. The main clinical features were megalencephaly or hemimegalencephaly (9/10), facial developmental malformation (8/10), hypotonia (6/10), large-for-gestational age (LGA) infants (5/10), cerebral ventricle dilation (4/10) and abnormal corpus callosum (4/10). All the gene mutations were missense mutations, including c.5395G>A(p.Glu1799Lys) mutation in 5 cases, c.4448G>T(p.Cys1483Phe) mutation in 1 case, c.4448G>T(p.Cys1483Tyr) mutation in 1 case, c.7235A>T(p.Asp2412Val) mutation in 1 case, c.5663T>G(p.Phe1888Cys) mutation in 1 case, c.5390C>T(p.Thr1799IIe) mutation in 1 case.Conclusions:The clinical phenotypes of neonatal SKS are diverse, including megalencephaly, facial malformation, LGA and hypotonia. The brain MR findings included (hemi) megalencephaly, cerebral ventricle dilation and corpus callosum hypoplasia. Most of the gene mutations are missense mutations and c.5395G>A(p.Glu1799Lys) is the hotspot.

Hepatolithiasis is a common biliary tract disease in China and other Asian countries.It has insidious onset,recurrent disease,and may lead to biliary cirrhosis or even cancer in the late stage without inter-vention.At present,surgery is considered to be the best choice for treatment.In the 21st century of minimally inva-sive surgery,traditional procedures such as partial hepatectomy,choledochotomy,cholangioenterostomy and liver transplantation can be performed with the assistance of laparoscopy and da Vinci robots,and emerging endoscopic techniques such as endoscopic retrograde cholangiopancreatography(ERCP)and percutaneous transhepatic cho-ledochoscopic lithotripsy(PTCSL)have also been developed,bringing better treatment for patients with hepatoli-thiasis.As treatment options are becoming more varied,there are also some clinical problems that need to be addressed.In this article,we would like to briefly review the current surgical treatment modalities in order to provide a theoretical basis for optimizing the treatment modalities.

Objective: To detect the arthropathies on no bleeding history joints in pre-school hemophilia A children in order to provide evidence for further prevention and control of joint disease in children with hemophilia A. Methods: This study was a cross-sectional study based on China Hemophilia Individualized prophylaxis study (CHIPS). The basic data of outpatients with hemophilia in Beijing Children's Hospital and Chengdu Women's and Children's Central Hospital between August 2016 and June 2017 were collected and a three-month follow-up was conducted. The target joints (six joints of bilateral elbows, knees and ankles) of thirty-four children aged 1-7 years old with severe hemophilia A were examined by ultrasound, X-ray and joint function examination (4-7 years old, hemophilia joint health score (HJHS)). To find out whether there are arthropathies in patient's joints with no bleeding history and analyze the relevant factors by chi-square test, rank sum test and other statistical methods. Results: There were 32 analyzable cases with 112 no-bleeding history target joints, 42.9% (48/112) were elbow joints. Arthropathies were revealed in 34.8% (39/112) of them by joint structural and functional examination and 46.2% (18/39) were ankles (χ²=8.379, P=0.015) . Ultrasound showed abnormalities in 18.3% (20/109) joints, X-ray showed abnormalities in 3.8% (3/79) joints and HJHS showed abnormalities in 25.3% (20/79) joints. There was no correlation between ultrasound and HJHS (r=0.015, P=0.895), no correlation was found between X-ray and HJHS (r=-0.101, P=0.390) either, which suggested that joint structural and functional examination could not replace each other. The related risk factors of arthropathies in this group were >4.91 years old (OR=3.917, 95%CI:1.610-9.528) and combining with target joint (OR=3.530, 95%CI:1.316-9.465). Conclusions Detecting the joint structure and function on no bleeding history joints in pre-school hemophilia A children could reveal the arthropathies and majority of them were ankle arthropathies. Joint structural and functional examinations could not replace each other. For patients more than 5 years old and those with target joints, the joints with no complaint of bleeding should be examined regularly to reveal the arthropathies in time.

Objective:To evaluate the acute effects of different foot-strike patterns of running on knee cartilage in amateur marathon runners using the T 2* mapping technique. Methods:From November 2021 to February 2022, 29 amateur marathon runners were recruited in Hangzhou. The gait analysis was performed to determine their landing patterns, then the runners were divided into the fore-foot strike (FFS) group (11 cases) and the rear-foot strike (RFS) group (18 cases). The MRI of the knee joint of the dominant leg was performed before and 30 min after running, and the volume, thickness, and T 2* value of each division of knee cartilage were measured. Independent samples t-tests were used to compare the differences in baseline data before running between the groups, and paired samples t-tests were used to compare the differences before and after running within the groups. Results:The difference in knee cartilage volume and thickness between the FFS and RFS groups before running was not statistically significant ( P>0.05), and the T 2* value of the femur medial posterior in the RFS group was higher than that of the FFS group ( t=-2.47, P=0.020). Compared with pre-running, cartilage thickness of the tibia lateral posterior decreased in the FFS group after running ( t=-2.96, P=0.016), and cartilage thickness of the tibia lateral posterior and patella lateral central decreased in the RFS group ( t=-3.25, -3.02, P=0.004, 0.007). Cartilage volume of the tibia lateral posterior decreased in the FFS group after running ( t=-2.58, P=0.030), and the cartilage volume of the patella lateral central decreased in the RFS group ( t=-2.74, P=0.013). The differences in T 2* values of cartilage in each region before and after running were not statistically significant in the FFS group ( P>0.05), whereas in the RFS group, the cartilage T 2* values in the femur medial posterior, femoral trochanter central, femoral trochanter lateral, femur lateral central, tibia lateral anterior, tibia medial posterior, tibia medial central, and tibia medial anterior decreased ( P<0.05). Conclusions:After running, FFS showed changes in morphology and biochemical composition only in some subregions of tibial cartilage, whereas most of the femoral cartilage, patellar cartilage, and tibial cartilage regions were altered by RFS. The RFS pattern introduces greater acute changes in cartilage in the knee joint.

Objective Conduct routine microbiological monitoring of laboratory rats and mice from vendors to provide an important basis for the scientific management of laboratory animal facility and ensure the reliability of relevant experimental data obtained from laboratory animals.Methods Taking the Department of Laboratory Animal Science of Fudan University as an example, between April 2021 and April 2023, rats and mice purchased from 7 vendors were sampled for microbiological quality according to the principle of simple random sampling on the arrival days of animal delivery. Then, surveillance tests were conducted to examine the microbiological contaminations according to the national standards of SPF laboratory animals.Results The total qualified rate was 80.36%, with 52.63% in SD rat, 82.76% in inbred mice, 86.67% in outbred mice and 86.36% in immunodeficient mice in details. The most frequent bacteria isolated were Staphylococcus aureus, Pseudomonas aeruginosa, Klebsilla pneumoniae and Rodentibacter heylii, and their detection rates were 10.76%, 3.16%, 2.53% and 0.63%, respectively. Serological assays demonstrated the highest prevalence for virus was Sendai virus, and the detection rate was 2.53%. In addition to the pathogens those must be excluded from SPF rodents, Entamoeba muris and Enterobacter spp. were also detected in inbred mice, and Klebsiella oxytoca was detected in immunodeficient mice, with the detection rates of 1.15%, 2.30% and 4.55%, respectively.Conclusion There are certain incidences of pathogen infections in laboratory rats and mice from vendors, and an efficient microbiological monitoring of laboratory animals should be implemented in animal facilities, in order to eliminate pathogen infections in laboratory animals, which is required for improving the accuracy of research results and protecting the occupational health of laboratory animal practitioners as well.

With the development of digital technology， an increasing number of artificial intelligence （AI） technologies are being applied in the field of public health， significantly improving the efficiency of healthcare systems. However， such technological advancement also introduces a series of ethical risks. In this article， we conducted a systematic review by searching nine domestic and international databases and analyzing the ethical issues related to AI in public health， ultimately including 158 articles. Based on the analysis of the included literature， ethical risks were categorized into four aspects： data， algorithms， rights and responsibilities， and social impact. A total of 15 key issues were identified， among which privacy and confidentiality， informed consent， data security， and fairness， justice and inclusion emerged as the most prominent issues. The ethical challenges posed by AI in the field of public health cannot be ignored， and it is necessary to formulate ethical guidelines and practical recommendations for AI in this field， establish sound regulatory and review mechanisms， thereby ensuring the healthy development of AI research in public health.

Objective:To understand the relationship between joint bleeding and joint disease in hemophilia children, and to provide a theoretical basis for clinical treatment and prognosis.Methods:The patients with severe hemophilia A between 1 and 7 years old and with relevant nodal bleeding records were selected.All the patients admitted in Beijing Children′s Hospital, Capital Medical University, and Chengdu New Century Women′s and Children′s Hospital since June 2016 to January 2017.All the joint bleeding of each child was taken as the study joint, and the joint bleeding was collected during the last 3 months.The joints were assessed by using ultrasound, X-ray, magnetic resonance imaging(MRI) and Hemophilia Joint Health Score (HJHS) scoring systems.The correlation analysis was conducted between the joint bleeding, ultrasound, X-ray, MRI and HJHS scores.The correlation analysis was conducted for baseline ultrasound, X-ray, MRI and HJHS scores.Results:(1) There were 18 patients enrolled.The mean age was (5.6±1.8) years old.There were 30 joints bleeding in the observation period in total, with the annul median joint bleeding times of 4 (4-16 times), and the annul median target joint bleeding times of 8 (4-16 times). (2) Joint bleeding times of was correlated with ultrasound and X-ray evaluation ( r=0.390, P=0.033; r=0.517, P=0.008), and not correlated with HJHS or MRI(all P>0.05). (3) There was significantly positive correlation among ultrasound, X-ray, HJHS and MRI [ r=0.815(ultrasound vs.X-ray), r=0.510(ultrasound vs.HJHS), r=0.812(ultrasound vs.MRI), r=0.666(X-ray vs.HJHS), r=0.911(X-ray vs.MRI), r=0.781(HJHS vs.MRI), all P<0.01]. (4) There was no correlation between times and assessment for joints whose ultrasound and /or MRI in joints with abnormal ultrasound and /or MRI evaluation( P>0.05). Conclusions:The results of joint bleeding and joint evaluation are inconsistent.Joint bleeding can not truly reflect the situation of joint diseases.The assessment of hemophilia should include comprehensive evaluation of joint structure, function, activity ability and other aspects to guide the treatment of haemophi-lia children.

Brain-computer interface (BCI) is a revolutionizing human-computer Interaction, which is developing towards the direction of intelligent brain-computer interaction and brain-computer intelligent integration. However, the practical application of BCI is facing great challenges. The maturity of BCI technology has not yet reached the needs of users. The traditional design method of BCI needs to be improved. It is necessary to pay attention to BCI human factors engineering, which plays an important role in narrowing the gap between research and practical application, but it has not attracted enough attention and has not been specifically discussed in depth. Aiming at BCI human factors engineering, this article expounds the design requirements (from users), design ideas, objectives and methods, as well as evaluation indexes of BCI with the human-centred-design. BCI human factors engineering is expected to make BCI system design under different use conditions more in line with human characteristics, abilities and needs, improve the user satisfaction of BCI system, enhance the user experience of BCI system, improve the intelligence of BCI, and make BCI move towards practical application.
Brain ; Brain-Computer Interfaces ; Electroencephalography ; Ergonomics ; Humans ; User-Computer Interface