Sneddon syndrome is a rare neurocutaneous disorder that primarily affects small-and medium-sized arteries.Its clinical manifestations include livedo racemosa and recurrent cerebral ischemic events,and it may also involve multiple organs such as the heart,spleen,and kidneys.This disease can lead to early-onset stroke,making it a rare cause of stroke in young adults.This article reported a case of a young female patient who experienced two cerebral infarctions within one month.Genetic testing identified a homozygous mutation in the adenosine deaminase 2 gene,confirming the diagnosis of Sneddon syndrome.This case serves as a reference to improve clinical recognition of this disease.

Sneddon syndrome is a rare neurocutaneous disorder that primarily affects small-and medium-sized arteries.Its clinical manifestations include livedo racemosa and recurrent cerebral ischemic events,and it may also involve multiple organs such as the heart,spleen,and kidneys.This disease can lead to early-onset stroke,making it a rare cause of stroke in young adults.This article reported a case of a young female patient who experienced two cerebral infarctions within one month.Genetic testing identified a homozygous mutation in the adenosine deaminase 2 gene,confirming the diagnosis of Sneddon syndrome.This case serves as a reference to improve clinical recognition of this disease.

Objective To investigate whether embolization surgery can improve mid-to-long-term outcomes related to quality of life,anxiety and depression in patients with unruptured intracranial aneurysms(UIA).Methods This prospective study included patients diagnosed with UIA within 30 days.Patients were divided into two groups based on treatment:the embolization group and the conservative group.The assessments of quality of life,depression,and anxiety were conducted using the medical outcome study short form-36(SF-36),self-rating depression scale(SDS),and self-rating anxiety scale(SAS)at baseline,3 months,and 5 years after treatment.In the embolization group,psychological trauma was assessed using the impact of event scale-revised(IES-R)at 3 months and 5 years post-surgery.Results A total of 113 patients were involved in the analysis including 76 in the embolization group and 37 in the conservative group.Compared to the conservative group,SF-36 data showed that the embolization group had a lower physical function(80.3±16.4 vs.86.1±12.8,P=0.046)and role-physical(47.37±43.32 vs.67.57±34.29,P=0.015)scores at 3 months,but a higher mental health score(68.16±18.80 vs.61.62±14.62,P=0.048).At 5 years,all dimensions of SF-36 improved significantly compared to baseline(all P<0.05).The SDS and SAS scores in the embolization group were significantly lower at both 3 months and 5 years compared to baseline(both P<0.05).The decrease in SDS(-2.8±10.6 vs.0.5±6.5)and SAS(-2.7±11.8 vs.1.2±5.4)scores in the embolization group at 3 months was greater than in the conservative group(both P<0.05).Subgroup analysis showed that patients with depression or anxiety at baseline in the embolization group experienced a significant decrease in SDS and SAS scores at 3 months and 5 years compared to baseline(both P<0.05).Additionally,in the embolization group,the IES-R score at 3 months was 37.5±13.8,which was significantly higher than the critical threshold(P=0.005),but decreased to 33.8±13.3 at 5 years post-surgery.Conclusions Patients with unruptured intracranial aneurysms experienced long-term improvements in quality of life after embolization surgery.Embolization surgery also helped alleviate depression and anxiety.

Objective To explore the effects of cognitive behavioral therapy based on 5G internet of things(IOT)on rehabilitation and kinesiophobia in elderly patients after percutaneous coronary intervention(PCI)for coronary artery disease.Methods Sixty elderly postoperative PCI patients with coronary artery disease admitted from June to December 2023 were selected as study subjects and randomly divided into the control group and the 5G group,with 30 cases in each group.The control groupreceived conventional nursing intervention,while the 5G group receivedcognitive behavioral therapy based on 5G IOT in addition to traditional nursing.Left ventricular ejection fraction(LVEF),6-minute walking distance(6MWD),the Tampa Scale for kinesiophobia Heart(TSK-SV Heart)scores,the Seattle Angina Questionnaire(SAQ)scores,and rehabilitation compliance were compared between the two groups.Results 12 weeks afterintervention,LVEF and 6MWD in the 5G groupwere significantly improved as compared with those in the control group(P＜0.05).The TSK-SV Heart scores in the 5G group werelower than those in the control group(P＜0.05),but the SAQ scores were higher(P＜0.05).And the rate of better rehabilitation compliance in the 5G group was significantly higher than thatin the control group(P＜0.05).Conclusions Cognitive behavioral therapy based on 5G IOT helps to improve the rehabilitation effect in elderly patients with coronary artery disease after PCI,reduce kinesiophobia,improve quality of life,and enhance reha-bilitationcompliance,thus promoting the rehabilitation process of the patients.

Objective To explore the effects of cognitive behavioral therapy based on 5G internet of things(IOT)on rehabilitation and kinesiophobia in elderly patients after percutaneous coronary intervention(PCI)for coronary artery disease.Methods Sixty elderly postoperative PCI patients with coronary artery disease admitted from June to December 2023 were selected as study subjects and randomly divided into the control group and the 5G group,with 30 cases in each group.The control groupreceived conventional nursing intervention,while the 5G group receivedcognitive behavioral therapy based on 5G IOT in addition to traditional nursing.Left ventricular ejection fraction(LVEF),6-minute walking distance(6MWD),the Tampa Scale for kinesiophobia Heart(TSK-SV Heart)scores,the Seattle Angina Questionnaire(SAQ)scores,and rehabilitation compliance were compared between the two groups.Results 12 weeks afterintervention,LVEF and 6MWD in the 5G groupwere significantly improved as compared with those in the control group(P＜0.05).The TSK-SV Heart scores in the 5G group werelower than those in the control group(P＜0.05),but the SAQ scores were higher(P＜0.05).And the rate of better rehabilitation compliance in the 5G group was significantly higher than thatin the control group(P＜0.05).Conclusions Cognitive behavioral therapy based on 5G IOT helps to improve the rehabilitation effect in elderly patients with coronary artery disease after PCI,reduce kinesiophobia,improve quality of life,and enhance reha-bilitationcompliance,thus promoting the rehabilitation process of the patients.

Recent studies have found that in the development of epilepsy, cyclic adenosine monophosphate response element binding protein (CREB) may cause recurrent epilepsy by inhibiting the expression of γ-aminobutyric acid, resulting in neuron damage and weakened effect of antiepileptic drug targets. Antiepileptic drugs can not control the extent or frequency of seizures, and then the patients are in a persistent state, hence the development of drug-resistant epilepsy. Therefore, the mechanism of CREB leading to drug-resistant epilepsy was reviewed in this paper, hoping to provide ideas for the treatment of drug-resistant epilepsy patients.

Objective:To study disease spectrum and genetic profiles of inborn errors of metabolism (IEM) among newborns in selected areas of Nanning city.Methods:From July 2019 to December 2021, neonates born and received IEM screening in our hospital were prospectively enrolled. Heel blood samples were tested using tandem mass spectrometry as IEM screening. Neonates with positive results were called back for recheck. Whole exome sequencing was used to detect possible pathogenic genes in suspected cases and IEM was diagnosed combining clinical manifestations. Sanger sequencing method was used for the diagnosed neonates and their parents to confirm the diagnoses.Results:A total of 16 207 live-birth neonates were enrolled. For initial IEM screening, 1 423 neonates were positive (8.8%) and 1 311 were called back (92.1%). 15 cases were suspected with IEM and 8 were diagnosed. The overall detection rate was 1∶2 026. Among 8 confirmed cases, 4 cases had amino acid metabolism disorders (2 cases of phenylketonuria, 1 case of Citrin deficiency and 1 case of tyrosinemia), 2 cases had organic acid metabolism disorders (1 case of methylmalonic acidemia and 1 case of glutaric acidemia) and 2 cases had fatty acid oxidation disorders (1 case of carnitine palmitotransferaseⅡdeficiency and 1 case of primary carnitine deficiency). 5 cases had homozygous genetic variants (2 in PAH, and 1 in SLC25A13, SLC22A5 and FAH, respectively) and 3 had heterozygous genetic variants (1 in CPT2, MUT, and GCDH, respectively). During follow-up, all 8 cases had normal growth and developmental outcomes after standardized treatment.Conclusions:The overall detection rate of IEM is high, with varied genetic profiles in selected areas of Nanning. Timely genetic testing may lead to early diagnosis and treatment and improve the quality of life of neonates.

Objective:To compare the efficacies of 3D printed guide plate assisted positioning and C-arm X-ray machine fluoroscopic positioning for femoral tunnel reconstruction of medial patellofemoral ligament in treating recurrent patellofemoral dislocation.Methods:A retrospective cohort study was performed on the clinical data of 60 patients with recurrent patellar dislocation admitted to the First Affiliated Hospital of Kunming Medical University from January 2018 to December 2022. The patients included 29 males and 31 females, with age range of 14-40 years [(28.6±7.6)years]. The 3D printed guide plate was used to locate the femoral tunnel in 30 patients for medial patellofemoral ligament reconstruction (3D guide group), and C-arm X-ray machine was used for another 30 patients (conventional group). (1) CT data of the knee joint were collected before surgery and at 7 days after surgery. Mimics 19.0 software was introduced to measure the distance between the center of femoral tunnel and Sch?ttle point after surgery. (2) Knee Lysholm score and Kujala score were used to evaluate the knee function before and at 3, 6, 9 and 12 months after surgery. (3) At the same time points, Opti-Knee TM 3D knee kinematics analysis system was used to collect the forward and backward displacement, up and down displacement, internal and external displacement, internal and external flipping angle, internal and external rotation angle, and flexion and extension angle of the affected knee joint. The range of each freedom degree was calculated and 6 freedom degree items of 30 healthy people were subjected to knee kinematics analysis. Results:All patients were followed up for 12-15 months [(12.3±0.7)months]. (1) The distance between the center of femoral tunnel and Sch?ttle point in the 3D guide group was (5.5±2.3)mm, smaller than that in the conventional group [(7.6±2.5)mm] ( P<0.01). (2) The Lysholm score and Kujala score of the 3D guide group and conventional gruop gradually increased after surgery (all P<0.01). There were no significant differences in the Lysholm score or Kujala score between the 3D guide group and conventional gruop before surgery and at 12 months after surgery (all P>0.05). At 3, 6 and 9 months after surgery, the Lysholm score of the 3D guide group [(70.4±4.5)points, (86.4±3.1)points, (91.2±3.2)points] and Kujala score [(74.2±5.3)points, (80.9±3.5)points, (85.2±3.2)points] were higher than those of the conventional group [Lysholm score: (67.3±5.2)points, (81.8±2.5)points, (86.2±1.9)points; Kujala score: (69.8±5.2)points, (77.6±2.1)points, (82.7±2.6)points] ( P<0.05 or 0.01). (3) Before surgery, the forward and backward displacement in the 3D guide group and conventional group [(0.6±0.1)cm, (0.6±0.2)cm], up and down displacement [(0.5±0.1)cm, (0.6±0.0)cm], internal and external displacement [(0.7±0.1)cm, (0.6±0.2)cm], and flexion and extension angle [(50.6±10.3)°, (51.6±8.5)°] were less than those in the healthy controls [(1.6±0.3)cm, (1.7±0.5)cm, (1.0±0.4)cm, (63.2±5.1)°] (all P<0.05), while the internal and external flipping angle [(17.5±4.0)°, (17.1±3.8)°] and internal and external rotation angle [(17.9±1.9)°, (17.5±1.5)°] were greater than those in the healthy controls [(11.8±3.6)°, (15.8±4.9)°] (all P<0.05). At other time points, the results of front and back displacement, up and down displacement, internal and external displacement, internal and external rotation angle in the 3D guide group and conventional group were not significantly different compared with the healthy controls (all P>0.05). The flexion and extension angle in the 3D guide group and conventional gruop were smaller than those in the healthy controls at 3 months after surgery (all P<0.05). At 6 and 9 months after surgery, the flexion and extension angle in the conventional group [(55.0±3.7)°, (57.7±4.8)°] were smaller than those in the healthy controls [(63.2±5.1)°, (63.2±5.1)°] (all P<0.05), but no significant difference was found between the 3D guide group [(61.0±4.8)°, (61.8±4.9)°] and the healthy controls (all P>0.05). The flexion and extension angle in the 3D guide group and conventional gruop was similar with that in the healthy controls at 12 months after surgery (all P>0.05). Conclusions:Compared with the C-arm X-ray machine, the 3D printed guide plate assisted positioning of femoral tunnel is more simple and accurate for the medial patellofemoral ligament reconstruction in treating recurrent patellofemoral dislocation, together with better early knee function recovery, better satisfaction of the patients, and better and faster restoration of the flexion and extension angle of knee joint kinematic function.

The clinical data of patients with hepatocellular carcinoma who underwent anatomical hepatectomy at the Affiliated Huaian No.1 People’s Hospital of Nanjing Medical University from June 2021 to January 2022 were retrospectively analyzed. Of 4 patients, there were 3 males and 1 female, aged (52.0±3.7) years. These patient underwent anatomical hepatectomy using the " target territory hepatic artery dye-injection" method. There were 2 patients with right hemi liver tumors with portal vein tumor thrombus, and 1 patient with a right anterior section tumor which involved the ventral segment of right anterior branch of portal vein. One patient had a left hemi liver tumor with portal vein tumor thrombus. The surgical operations were right hemihepatectomy combined with thrombectomy of portal vein in 2 patients, right anterior sectionectomy in 1 patient, and left hemihepatectomy combined with thrombectomy of portal vein in 1 patient. There were no postoperative complications including bile fistula or bleeding. The "Target territory hepatic artery dye-injection" method could be used in appropriate by selected patients.

Objective: To explore the early failure of narrow-diameter implants (NDIs) and to provide a reference for clinical implant restoration. Methods: From April 2017 to April 2020, data from a total of 725 patients (with 1 001 NDIs) who accepted implant restoration due to dentition defects were collected from the department of dental implantology in a stomatological hospital; 353 males and 372 females were included. The early failure rate of 1 001 NDIs was retrospectively analyzed. Univariate generalized estimated equation (GEE) and multivariate GEE were used to explore risk factors, including age, sex, implant location, materials, surface modification, length, bone augmentation and healing procedure, associated with early failure of NDIs. Results: There were 34 cases of early failure among 725 patients, including 38 NDIs. The early failure rate of NDIs was 4.69% at the patient level and 3.80% at the implant level. There was no significant difference in the early failure rate of NDIs among different age groups, sexes, implant materials, surface modifications, lengths, and healing procedures (P>0.05). Univariate analysis showed that there was a significant difference between the early failure rate of NDIs in the anterior maxilla group (2.16%) and the anterior mandible group (8.64%) at the implant level (P<0.001). However, there was no significant difference in the early failure rate between the anterior maxilla group and the posterior group (3.35%) (P>0.05). In addition, in the anterior region, the early failure rate of NDIs in the group with simultaneous bone augmentation was significantly lower than that of the group without bone augmentation (P<0.05). However, multivariate GEE analysis showed that the early failure rate of NDIs was only significantly positively correlated with implants in the mandibular anterior region (P<0.01). Conclusion The overall early survival rate of Straumann 3.3 mm NDIs is greater than 95%. The early failure of NDIs in the anterior mandible region is much higher than that in the anterior maxilla region and posterior region.