OBJECTIVE: To investigate the clinical characteristics and genetic etiology of eight members from a pedigree affected with epidermolysis bullosa (EB). METHODS: A girl presented with recurrent, unexplained blisters on the palmar and plantar skin for 8 years and sought medical care in October 2024 was enrolled as the study subject. A retrospective study was conducted to collect the child's clinical data, and a detailed medical history was taken for her family members. Peripheral venous blood samples were collected from the child and her parents for genomic DNA extraction. Whole-exome sequencing (WES) was performed. Candidate variant was validated by Sanger sequencing. The pathogenicity of the candidate variants was classified in accordance with the Standards and Guidelines for the Interpretation of Sequence Variants issued by the American College of Medical Genetics and Genomics (ACMG, hereinafter referred to as the "ACMG Guidelines"). This study was approved by the Medical Ethics Committee of the 980th Hospital of the Joint Logistics Support Force of the Chinese People's Liberation Army (Ethics No.: 2019-KY-01). RESULTS: The proband was an 8-year-and-4-month-old female. Four months after birth, she had developed recurrent blisters on the palmar and plantar skin without obvious triggers, accompanied by significant pain. Symptoms were more severe in summer and slightly relieved in winter. Although symptomatic treatment could alleviate the symptoms, she was unable to participate in physical activities. A detailed family history revealed that her great-grandfather, grandfather, father, half-brother, great-aunt, great-aunt's son and two grandsons, as well as her aunt and aunt's son, had similar clinical manifestations. WES revealed that she has harbored a heterozygous c.556-16(IVS1)C>G (NM_000424.4) variant in the KRT5 gene, which was identified as a splice site mutation. Reverse transcription sequencing confirmed that this variant can disrupt normal splicing, resulting in retention of a 15 bp sequence in the first intron. Sanger sequencing demonstrated that the variant was inherited from the father, and the 6 aforementioned relatives with similar phenotypes have all carried the same variant (the great-grandfather, grandfather, and great-aunt had declined genetic testing due to advanced age). Based on the ACMG guidelines, this variant was classified as pathogenic (PS3+PM2_Supporting+PP3+PP1_strong). CONCLUSION Patients with epidermolysis bullosa simplex may exhibit clinical features including blistering on the skin or mucous membranes of friction-prone sites (e.g. hands, feet, elbows, and knees) following minor trauma or friction, as well as increased skin fragility. The c.556-16(IVS1)C>G (rs376462752) variant of the KRT5 gene probably underlay the pathogenesis of EB in this child. Above findings have enriched the mutational spectrum of the KRT5 gene.
Child ; Female ; Humans ; Infant ; Male ; China ; Epidermolysis Bullosa Simplex/genetics* ; Exome Sequencing ; Keratin-5/genetics* ; Mutation ; Pedigree ; Retrospective Studies ; East Asian People/genetics*

The carotid web is a double-layered membranous structure protruding into the lumen,primarily affecting the carotid bifurcation and bulb.It is considered as a potential risk factors for ischemic stroke.Carotid web can alter the structure of the carotid artery lumen,leading to hemodynamic abnormalities that increase the risk of thrombus formation.Once detached,it can cause intracranial arterial embolism,making it a common cause of stroke in young adults.This case report presents a case of restenosis after mechanical thrombectomy and carotid endarterectomy for carotid web-induced ectopic embolism.It provides references and insights for clinicians to recognize,diagnose and treat this disease.

The carotid web is a double-layered membranous structure protruding into the lumen,primarily affecting the carotid bifurcation and bulb.It is considered as a potential risk factors for ischemic stroke.Carotid web can alter the structure of the carotid artery lumen,leading to hemodynamic abnormalities that increase the risk of thrombus formation.Once detached,it can cause intracranial arterial embolism,making it a common cause of stroke in young adults.This case report presents a case of restenosis after mechanical thrombectomy and carotid endarterectomy for carotid web-induced ectopic embolism.It provides references and insights for clinicians to recognize,diagnose and treat this disease.

Objective:To determine the factors related to postoperative 1-year and 5-year mortalities in elderly patients with hip fracture plus chronic obstructive pulmonary disease (COPD).Methods:A retrospective study was conducted of the elderly patients with hip fracture who had sought medical attention at Department of Orthopaedics, The 7th Medical Center of PLA General Hospital from January 2012 to December 2016.Of them, 103 were complicated with COPD, and another 103 without COPD were selected as controls who were matched in age, gender and fracture site. The 2 groups were compared in terms of postoperative 30-day, 1-year and 5-year mortalities; the risk factors were explored for postoperative 1-year and 5-year mortalities in patients with hip fracture plus COPD.Results:The postoperative 30-day, 1-year and 5-year mortalities in the COPD group were 7.8%(8/103), 29.1%(30/103) and 48.5%(50/103), significantly higher than those in the control group except for the 30-day value [1.9%(2/103), 13.6%(14/103) and 31.1%(32/103)] ( P<0.05). Advanced age ( P=0.003), cardiovascular disease ( P=0.006), respiratory disease ( P=0.009), acute exacerbation of COPD (AECOPD) ( P<0.01), American Society of anesthesiologists (ASA) grades Ⅲ+Ⅳ ( P=0.001), delayed surgery (>48 h) ( P=0.015), pre-injury activities of daily living (ADL) score ( P=0.002) and mobility ( P=0.010) were related to an increased risk for 1-year mortality after operation. Advanced age ( OR=1.106, 95% CI: 1.016 to 1.210, P=0.021), AECOPD ( OR=5.053, 95% CI: 1.520 to 16.800, P=0.008), and ASA grades Ⅲ+Ⅳ ( OR=1.657, 95% CI: 1.072 to 3.912, P=0.040) were the risk factors for 5-year mortality in patients with COPD; pre-injury ADL ( OR=0.974, 95% CI: 0.987 to 0.967, P=0.043) was negatively correlated with 5-year mortality. Conclusions:COPD can significantly increase the short-term and long-term mortalities in elderly patients with hip fracture.Cardiovascular disease, AECOPD and ASA grades Ⅲ+Ⅳ are factors related to postoperative 1-year mortality in patients with hip fracture plus COPD. Advanced age, AECOPD and ASA grades Ⅲ+Ⅳ and delayed surgery (>48 h) are risk factors for postoperative 5-year mortality in patients with hip fracture plus COPD. ADL score before injury is negatively correlated with postoperative 1-year and 5-year mortalities.

Abstract: To explore the inflammatory changes and the changes of β-amyloid in the brain of rats with experimental periodontitis induced by ligation. Methods: Eighteen Sprague Dawley rats were randomly divided into 3 groups(n=6): the negative control group, chronic periodontitis group and chronic periodontitis treated with intraperitoneal injection of TAK-242 group. The experimental periodontitis model was established by ligation of the necks of bilateral maxillary first molar and inoculation ofPorphyromonas gingivalis(P.gingivalis). At the end of the second month after the successful modeling, the samples were collected from the rats. The damage of the alveolar bone was analyzed by Micro-CT. The mRNA expression levels of interleukin(IL)-6, IL-1β and tumor necrosis factor-α(TNF-α) in gingival tissue and hippocampal tissue, the mRNA expression level of Toll like receptors-4(TLR4), leukocyte differentiation antigen 14(CD14) and NF-κB in hippocampal tissue of rats were detected by qPCR. The protein expression levels of IL-6, IL-1β, TNF-α, myloid-beta protein-40(Aβ40) and Aβ42in hippocampal tissue of rats were evaluated by ELISA. Results: Experimental periodontitis model of rats could be successfully established by ligation of the neck of the rat's bilateral maxillary first molars and inoculation with porphyromonas gingivalis. The results of qPCR and ELISA showed that experimental periodontitis up-regulated the expression levels of inflammatory factors(IL-6, IL-1β and TNF-α) in hippocampus of rats and the result of ELISA showed that the level of Aβ42in hippocampus of experimental periodontitis rats increased. But the pretreatment with TAK-242 intraperitoneal injection could reduce the up-regulated the expression of inflammatory factors and Aβ42by down-regulating the TLR4/NF-κB signaling pathway. Conclusion Experimental periodontitis in rats induced by ligation combined with inoculation of porphyromonas gingivalis can result in inflammation in the brain and promote the accumulation of Aβ42in the brain, and it is reasonable to speculate that inflammation may play an important role in the correlation between periodontitis and systemic diseases such as Alzheimer's disease.

Objective:To investigate the clinical effect of minimally invasive plate osteosynthesis (MIPO) through anterolateral approach in treatment of middle-distal humeral shaft fracture.Methods:A retrospective case series study was conducted to analyze the clinical data of 21 patients with middle-distal humeral shaft fracture admitted to 7th Medical Center of Chinese PLA General Hospital from August 2015 to March 2018, including 12 males and 9 females, aged 18-68 years [(31.3±3.6)years]. All were closed fracture. According to AO classification, the fracture were classified as type A in 6 patients, type B in 10 and type C in 5. All patients were treated with anterolateral minimally invasive plate fixation. The operation time, intraoperative blood loss and hospital stay were recorded. The fracture healing was observed after operation. The visual analogue scale (VAS), University of California at Los Angeles (UCLA) shoulder rating scale, and Mayo elbow performance score (MEPS) were used to evaluate the effectiveness before operation and at 2 weeks, 3 months and 12 months after operation.Results:All patients were followed up for 12-26 months [(18.2±2.4)months]. The operation time was 50-82 minutes [(68.2±19.4)minutes], with intraoperative blood loss of 40-95 ml [(60.2±21.3)ml]. The hospital stay was 6-16 days [(6.8±1.2)days]. There was no iatrogenic vascular or nerve injury during operation. The patients with radial nerve injury before operation were all adventitia contusion. The nerve function returned to normal within 3 months after operation. All fractures were healed within 5-10 months [(5.3±1.2)months]. At 2 weeks, 3 months and 12 months after operation, the VAS [(3.6±0.8)points, (2.1±0.4)points, (1.8±0.3)points] was lower than that before operation [(8.3±1.6)points] ( P<0.05); UCLA shoulder rating scale [(31.2±1.5)points, (33.6±0.8)points, (34.6±0.5)points] was higher than that before operation [(28.4±2.3)points] ( P<0.05); and MEPS [(80.2±3.4)points, (93.4±2.2)points, (96.4±3.5)points] was higher than that before operation [(60.5±4.5)points] ( P<0.05). At the last follow-up, the UCLA shoulder rating scale and MEPS showed excellent results. Conclusion:For middle and lower humeral shaft fracture especially for the fracture line relatively distal to the shaft, MIPO technique through anterolateral approach can attain satisfactory results in terms of pain, range of motion of shoulder and elbow joint, and joint function.

Objective:To investigate the prognosis of severe hyperbilirubinemia in full-term infants who met the exchange transfusion criteria and were treated by blood exchange transfusion and phototherapy.Methods:A total of 168 full-term infants with severe hyperbilirubinemia who met the criteria for exchange transfusion and were hospitalized in the Neonatology Department of seven tertiary hospitals in Hebei Province from June 2017 to December 2018 were retrospectively included. According to the treatment protocol, they were divided into two groups: exchange transfusion group (38 cases) and phototherapy group (130 cases). Two independent sample t-test and Chi-square test were used to compare the clinical manifestations and follow-up results between the two groups. Multivariate logistic regression was used to analyze the risk factors for poor prognosis. Results:Neonatal severe hyperbilirubinemia in the exchange transfusion and phototherapy group were both mainly caused by hemolytic disease [42.1%(16/38) and 29.2%(38/130)], sepsis [28.9%(11/38) and 11.5%(15/130)] and early-onset breastfeeding jaundice [15.8%(6/38) and 11.5%(15/130)]. Total serum bilirubin level on admission in the exchange transfusion group was significantly higher than that in the phototherapy group [(531.7±141.3) vs (440.0±67.4) μmol/L, t=3.870, P<0.001]. Moreover, the percentage of patients with mild, moderate and severe acute bilirubin encephalopathy in the exchange transfusion group were higher than those in the phototherapy group [15.8%(6/38) vs 3.8%(5/130), 7.9%(3/38) vs 0.8%(1/130), 13.2%(5/38) vs 0.0%(0/130); χ2=29.119, P<0.001]. Among the 168 patients, 135 were followed up to 18-36 months of age and 12 showed poor prognosis (developmental retardation or hearing impairment) with four in the exchange transfusion group (12.9%, 4/31) and eight in the phototherapy group (7.7%, 8/104). Multivariate logistic regression analysis showed that for full-term infants with severe hyperbilirubinemia who met the exchange transfusion criteria, phototherapy alone without blood exchange transfusion as well as severe ABE were risk factors for poor prognosis ( OR=14.407, 95% CI: 1.101-88.528, P=0.042; OR=16.561, 95% CI: 4.042-67.850, P<0.001). Conclusions:Full-term infants who have severe hyperbilirubinemia and meet the exchange transfusion criteria should be actively treated with blood exchange transfusion, especially for those with severe ABE, so as to improve the prognosis.

Objective:To compare the long-term oncological outcomes between laparoscopic and abdominal surgery in stage Ⅰa1 （lymph-vascular space invasion-positive, LVSI +）- Ⅰb1 cervical cancer patients with different tumor sizes. Methods:Based on the Big Database of Clinical Diagnosis and Treatment of Cervical Cancer in China (1538 project database), patients with stage Ⅰa1 （LVSI +）-Ⅰb1 cervical cancer who treated by laparoscopic or abdominal surgery were included. The 5-year overall survival (OS) and 5-year disease-free survival (DFS) between the two surgical approaches were compared under 1∶1 propensity score matching (PSM) in different tumor diameter stratification. Results:(1) A total of 4 891 patients with stage Ⅰa1 （LVSI +）-Ⅰb1 cervical cancer who underwent laparoscopy or laparotomy from January 1, 2009 to December 31, 2016 were included in the 1538 project database. Among them, 1 926 cases in the laparoscopic group and 2 965 cases in the abdominal group. There were no difference in 5-year OS and 5-year DFS between the two groups before matching. Cox multivariate analysis suggested that laparoscopic surgery was associated with lower 5-year DFS ( HR=1.367, 95% CI: 1.105-1.690, P=0.004). After 1∶1 PSM matching, 1 864 patients were included in each group, and there was no difference in 5-year OS between the two groups （94.1% vs 95.4%, P=0.151）. While, the inferior 5-year DFS was observed in the laparoscopic group (89.0% vs 92.3%, P=0.004). And the laparoscopic surgery was associated with lower 5-year DFS ( HR=1.420, 95% CI: 1.109-1.818, P=0.006). (2) In stratification analysis of different tumor sizes, and there were no difference in 5-year OS and 5-year DFS between the laparoscopic group and abdominal group in tumor size ≤1 cm, >1-2 cm and >2-3 cm stratification (all P>0.05). Cox multivariate analysis showed that laparoscopic surgery were not related to 5-year OS and 5-year DFS ( P>0.05). In the stratification of tumor size >3-4 cm, there was no difference in 5-year OS between the two groups ( P>0.05). The 5-year DFS in the laparoscopic group was worse than that in the abdominal group (75.7% vs 85.8%, P=0.025). Cox multivariate analysis suggested that laparoscopic surgery was associated with lower 5-year DFS ( HR=1.705, 95% CI: 1.088-2.674, P=0.020). Conclusions:For patients with stage Ⅰa1 （LVSI +）-Ⅰb1 cervical cancer, laparoscopic surgery is associated with lower 5-year DFS, and the adverse effect of laparoscopic surgery on oncology prognosis is mainly reflected in patients with tumor size >3-4 cm. For patients with tumor sizes ≤1 cm, >1-2 cm and >2-3 cm, there are no difference in oncological prognosis between the two surgical approaches.

Objective: The clinical characteristics of dural arteriovenous fistula with pulsatile tinnitus were analyzed to deepen the understanding of the disease. Methods: The clinical data of five patients complained of pulsatile tinnitus and diagnosed dural arteriovenous fistula in Henan People's Hospital from May 2013 to June 2018 were retrospectively analyzed, including 3 males and 2 females, aged 27-65 years. Results: The main clinical symptoms of the five patients were continuous pulsatile tinnitus, accompanied/not accompanied by headache, memory decline, etc., with a course of three months to 20 years. They were diagnosed as dural arteriovenous fistula by digital subtraction angiography, and three cases of tinnitus disappeared and two cases of tinnitus were relieved after embolization. Conclusions The dural arteriovenous fistula is a rare and complicated disease. When the patient complain of the pulsatile tinnitus, the related etiology should be considered and managed properly.

BACKGROUND: Tendon injury is common in clinic, which is mainly treated by surgical anastomosis. Postoperative tendon healing is usually assessed through surgeons' experience due to high cost and application restrictions of MRI examination. Thus there is still a lack of a convenient and objective imaging support. With the advancement and widespread application of high-frequency ultrasound, the diagnosis rate of tendon injury has been improved remarkably; thereafter, high-frequency ultrasound used for assessing tendon injury and repair has become an issuehas become an issue of concern.OBJECTIVE: To clarify the ultrasonic imaging features of tendon repair through high-frequency ultrasound scancombined with histological examination.METHODS: This was a single-central, preoperative and self-controlled animal experiment and finished in the Central People'sHospital of Siping, China. 130 adult male Highbrow chickens were selected and were then randomized into 13 groups (n=10per group). One side of each chicken hind foot was randomly selected as experimental limb to undergo achillotomy followedby repair using the modified Kessler method (groups 2-13) or no treatment (group 1); the contralateral limb served as control.Moreover, passive flexion-extension functional training targeting the experimental limbs was performed in the groups 8-13beginning at the 1st day after surgical anastomosis, several times a day. The high-frequency ultrasound and hematoxylineosinstaining were conducted before and after chillotomy (group 1), and at 3 (groups 2 and 8), 7 (groups 3 and 9), 14 (groups4 and 10), 21 (groups 5 and 11), 35 (groups 6 and 12) and 42 (groups 7 and 13) days after surgical anastomosis, respectively.RESULTS AND CONCLUSION: The primary measurement outcomes were the repair and healing of the injured tendonas assessed by high-frequency ultrasound; the secondary outcomes were the pathological manifestations of the injuredtendon detected by hematoxylin-eosin staining. Our findings will provide preclinical proof for high-frequency ultrasounduse in the assessment of tendon injury, repair and healing as well as for the rehabilitation therapy that promotes functionrecovery in the future.