Objective:To explore the correlation between structural chromosomal abnormality and clinical characteristics of a child featuring gonadal dysplasia.Methods:A 13-year-old child who was admitted to Lianyungang Maternal and Child Health Care Hospital on February 7, 2023 for primary amenorrhoea and occasional abdominal pain was selected as the study subject. Clinical data of the child was collected, and peripheral blood samples of the child and her parents were collected. G-banding chromosomal karyotyping and copy number variation sequencing (CNV-seq) were carried out. "Pseudodual centromere isochromosome X" and "psu idic(X)" were used as keywords to search the CNKI, Wanfang and PubMed databases, and the search period was set as from January 1, 2002 to June 1, 2023. Relevant literature on the structural abnormality of X chromosome was searched and analyzed retrospectively.Results:The child has a height of 153 cm and weighed 45 kg. She has no obvious facial dysmorphism. Laboratory tests showed that she had higher FSH and luteinizing hormone, and lower E2. Ultrasonography showed that she had small ovaries and rudimentary uterus. She was found to have a karyotype of 46, X, psu idic(X)(q21.3)[40]/mos 45, X[3], whilst both of her parents had a normal karyotype. CNV-seq showed that she had a 63.27 Mb deletion in Xq21.32q28 and a 91.59 Mb duplication in Xp22.33q21.32 (mosaicism rate = 74%). A total of 11 relevant literature were retrieved. Clinical phenotypes of patients with similar structural chromosomal abnormalities were diverse, which was closely related to the mosaicism rate of the 45, X karyotype and the location of the breaking point.Conclusion:46, X, psu idic(X)(q21.3)/45, X probably underlay the dysplasia of uterus and ovary and sex hormone abnormalities in this child, while her height was spared. Deletion of Xq21.32q28 is a key factor leading to Turner syndrome-like phenotype such as rudimentary uterus and ovarian dysplasia.

Objective To investigate the factors affecting the prognosis of endovascular treatment(EVT)for acute vertebrobasilar artery occlusion(AVBAO)within 24 h of onset of disease.Methods General and clinical data of AVBAO patients admitted to the Department of Cerebrovascular Diseases,Henan Provincial People's Hospital who received EVT within 24h of onset from October 2020 to September 2023 were retrospectively and consecutively included,including age,sex,stroke-related risk factors(hyperlipidemia,hypertension,diabetes mellitus,atrial fibrillation,coronary artery disease,smoking,and previous stroke),preoperative National Institutes of Health stroke scale(NIHSS)score,preoperative modified Rankin scale(mRS)score,form of onset,preoperative intravenous thrombolysis,posterior circulation Alberta stroke program early CT score(pc-ASPECTS),basilar artery on computed tomography angiography(BATMAN)score,site of occlusion(intracranial segment of vertebral artery,basilar artery),and surgical procedure(direct aspiration and/or stent-retrieval,balloon dilatation,stenting,etc.First-line stenting or balloon dilatation is direct angioplasty;if blood flow cannot be maintained after thrombectomy,further balloon dilatation and/or stenting is required as remedial angioplasty),onset-to-puncture time,puncture-to-recanalization time,and postprocedure immediate modified thrombolysis in cerebral infarction(mTICI)grading(successful recanalization was defined as mTICI grading 2b or 3),and perioperative complications(intraprocedural thrombus migration,intraprocedural reocclusion,intraprocedural dissection,postoperative hemorrhagic transformation within 3 d,and symptomatic intracranial hemorrhage[sICH]).Patient prognosis was assessed by mRS score at 90 d postoperatively.The mRS score≤3 was classified as good prognosis,and mRS score＞3 was classified as poor prognosis.Indicators with P＜0.1 in the results of univariate analysis were included,and variables were screened by backward elimination and subjected to multifactorial Logistic regression analysis to analyze the factors influencing the prognosis of AVBAO patients undergoing EVT within 24 h of the onset of the disease.Results A total of 149 AVBAO patients who underwent EVT were included,including 79 patients with good prognosis,70 patients with poor prognosis,145 patients with successful revascularization,34 patients with perioperative complications,and 32 patients with death.(1)The results of univariate analysis showed that compared with patients with poor prognosis,patients with good prognosis had lower preoperative NIHSS scores(16.0[12.0,23.0]vs.24.5[16.8,31.3],Z=-4.280,P＜0.01)and preoperative mRS scores(4[4,4]vs.5[4,5],Z=-4.711,P＜0.01),a lower percentage of diabetes mellitus(15.2％[12/79]vs.35.7％[25/70],x2=8.376,P=0.004),and the incidence of postoperative hemorrhagic transformation within 3d(7.6％[6/79]vs.25.7％[18/70],x2=-0.246,P=0.003)and the incidence of sICH(1.3％[1/79]vs.14.3％[10/70],x2=-0.249,P=0.002)were significantly lower in patients with good prognosis than that in patients with poor prognosis.(2)Age,hyperlipidemia,diabetes mellitus,preoperative NIHSS score,preoperative mRS score,postoperative hemorrhagic transformation within 3 d and sICH were included in multifactorial Logistic regression analysis,which showed that hyperlipidemia(OR,2.433,95％CI 1.088-5.441),diabetes mellitus(OR,2.797,95％CI 1.168-6.701),high preoperative NIHSS score(OR,3.715,95％CI 1.684-8.195),and postoperative sICH within 3 d(OR,19.681,95％CI 1.984-195.192)were the independent risk factors for poor prognosis of patients with AVBAO who underwent EVT within 24 h of onset(all P＜0.05).Conclusion Hyperlipidemia,diabetes mellitus,high preoperative NIHSS score,and postoperative sICH within 3 d were independent risk factors for poor prognosis in AVBAO patients who underwent EVT within 24 h of onset.

Diabetes mellitus (DM) affects about 9.3% of the population globally. Hyperhomocysteinemia (HHcy) has been implicated in the pathogenesis of DM, owing to its promotion of oxidative stress, β-cell dysfunction, and insulin resistance. HHcy can result from low status of one-carbon metabolism (OCM) nutrients (e.g., folate, choline, betaine, vitamin B6, B12), which work together to degrade homocysteine by methylation. The etiology of HHcy may also involve genetic variation encoding key enzymes in OCM. This review aimed to provide an overview of the existing literature assessing the link between OCM nutrients status, related genetic factors, and incident DM. We also discussed possible mechanisms underlying the role of OCM in DM development and provided recommendations for future research and practice. Even though the available evidence remains inconsistent, some studies support the potential beneficial effects of intakes or blood levels of OCM nutrients on DM development. Moreover, certain variants in OCM-related genes may influence metabolic handling of methyl-donors and presumably incidental DM. Future studies are warranted to establish the causal inference between OCM and DM and examine the interaction of OCM nutrients and genetic factors with DM development, which will inform the personalized recommendations for OCM nutrients intakes on DM prevention.

Objective To investigate the factors affecting the prognosis of endovascular treatment(EVT)for acute vertebrobasilar artery occlusion(AVBAO)within 24 h of onset of disease.Methods General and clinical data of AVBAO patients admitted to the Department of Cerebrovascular Diseases,Henan Provincial People's Hospital who received EVT within 24h of onset from October 2020 to September 2023 were retrospectively and consecutively included,including age,sex,stroke-related risk factors(hyperlipidemia,hypertension,diabetes mellitus,atrial fibrillation,coronary artery disease,smoking,and previous stroke),preoperative National Institutes of Health stroke scale(NIHSS)score,preoperative modified Rankin scale(mRS)score,form of onset,preoperative intravenous thrombolysis,posterior circulation Alberta stroke program early CT score(pc-ASPECTS),basilar artery on computed tomography angiography(BATMAN)score,site of occlusion(intracranial segment of vertebral artery,basilar artery),and surgical procedure(direct aspiration and/or stent-retrieval,balloon dilatation,stenting,etc.First-line stenting or balloon dilatation is direct angioplasty;if blood flow cannot be maintained after thrombectomy,further balloon dilatation and/or stenting is required as remedial angioplasty),onset-to-puncture time,puncture-to-recanalization time,and postprocedure immediate modified thrombolysis in cerebral infarction(mTICI)grading(successful recanalization was defined as mTICI grading 2b or 3),and perioperative complications(intraprocedural thrombus migration,intraprocedural reocclusion,intraprocedural dissection,postoperative hemorrhagic transformation within 3 d,and symptomatic intracranial hemorrhage[sICH]).Patient prognosis was assessed by mRS score at 90 d postoperatively.The mRS score≤3 was classified as good prognosis,and mRS score＞3 was classified as poor prognosis.Indicators with P＜0.1 in the results of univariate analysis were included,and variables were screened by backward elimination and subjected to multifactorial Logistic regression analysis to analyze the factors influencing the prognosis of AVBAO patients undergoing EVT within 24 h of the onset of the disease.Results A total of 149 AVBAO patients who underwent EVT were included,including 79 patients with good prognosis,70 patients with poor prognosis,145 patients with successful revascularization,34 patients with perioperative complications,and 32 patients with death.(1)The results of univariate analysis showed that compared with patients with poor prognosis,patients with good prognosis had lower preoperative NIHSS scores(16.0[12.0,23.0]vs.24.5[16.8,31.3],Z=-4.280,P＜0.01)and preoperative mRS scores(4[4,4]vs.5[4,5],Z=-4.711,P＜0.01),a lower percentage of diabetes mellitus(15.2％[12/79]vs.35.7％[25/70],x2=8.376,P=0.004),and the incidence of postoperative hemorrhagic transformation within 3d(7.6％[6/79]vs.25.7％[18/70],x2=-0.246,P=0.003)and the incidence of sICH(1.3％[1/79]vs.14.3％[10/70],x2=-0.249,P=0.002)were significantly lower in patients with good prognosis than that in patients with poor prognosis.(2)Age,hyperlipidemia,diabetes mellitus,preoperative NIHSS score,preoperative mRS score,postoperative hemorrhagic transformation within 3 d and sICH were included in multifactorial Logistic regression analysis,which showed that hyperlipidemia(OR,2.433,95％CI 1.088-5.441),diabetes mellitus(OR,2.797,95％CI 1.168-6.701),high preoperative NIHSS score(OR,3.715,95％CI 1.684-8.195),and postoperative sICH within 3 d(OR,19.681,95％CI 1.984-195.192)were the independent risk factors for poor prognosis of patients with AVBAO who underwent EVT within 24 h of onset(all P＜0.05).Conclusion Hyperlipidemia,diabetes mellitus,high preoperative NIHSS score,and postoperative sICH within 3 d were independent risk factors for poor prognosis in AVBAO patients who underwent EVT within 24 h of onset.

Objective: To explore the clinical application value of deep convoluti onal neural network for automatic detection and classification of benign and malignant thyroid nodules ultrasound images. Methods: A total of 1 012 ultrasound images of thyroid nodules were retrospectively selected and labeled. The YOLOv5 network model was constructed to accurately locate the location of thyroid nodules and automatically trim the area of the nodules. At the same time , a GoogLeNet network model was constructed to classify benign and malignant nodules after reduction. Results : In the collected data set , the mean accuracy of the target detection network for thyroid nodule location detection was 96. 2% . Meanwhile , the sensitivity, specificity, accuracy and AUC of the classification network for benign and malignant nodules were 0. 885 ,0. 822 ,0. 866 and 0. 92 respectively ,which were significantly higher than those of the AlexNet model (0. 81) , VGG model (0. 86) and MobileNet model (0. 76) . Conclusion The deep convo⁃ lutional neural network model has high localization and recognition ability for benign and malignant thyroid nodules in ultrasound images ,which is helpful to improve the accuracy of automatic image diagnosis.

Idiopathic pulmonary fibrosis (IPF) is a progressive lung disease with unclear etiology and limited treatment options. The median survival time for IPF patients is approximately 2-3 years and there is no effective intervention to treat IPF other than lung transplantation. As important components of lung tissue, endothelial cells (ECs) are associated with pulmonary diseases. However, the role of endothelial dysfunction in pulmonary fibrosis (PF) is incompletely understood. Sphingosine-1-phosphate receptor 1 (S1PR1) is a G protein-coupled receptor highly expressed in lung ECs. Its expression is markedly reduced in patients with IPF. Herein, we generated an endothelial-conditional S1pr1 knockout mouse model which exhibited inflammation and fibrosis with or without bleomycin (BLM) challenge. Selective activation of S1PR1 with an S1PR1 agonist, IMMH002, exerted a potent therapeutic effect in mice with bleomycin-induced fibrosis by protecting the integrity of the endothelial barrier. These results suggest that S1PR1 might be a promising drug target for IPF therapy.

Posttranslational modifications(PTMs)of proteins,particularly acetylation,phosphory-lation,and ubiquitination,play critical roles in the host innate immune response.PTMs'dynamic changes and the crosstalk among them are complicated.To build a comprehensive dynamic net-work of inflammation-related proteins,we integrated data from the whole-cell proteome(WCP),acetylome,phosphoproteome,and ubiquitinome of human and mouse macrophages.Our datasets of acetylation,phosphorylation,and ubiquitination sites helped identify PTM crosstalk within and across proteins involved in the inflammatory response.Stimulation of macrophages by lipopolysac-charide(LPS)resulted in both degradative and non-degradative ubiquitination.Moreover,this study contributes to the interpretation of the roles of known inflammatory molecules and the dis-covery of novel inflammatory proteins.

This commentary reviews the updates on laser and aesthetic medicine in recent two years and provide the evidence-based conclusion for recent laser treatments for our patients. Progress has been made in the following respects. Combined laser or drug treatment is better than single treatment for hypertrophic scar. The picosecond laser has recently been shown to be safe and effective for Asian atrophic acne scars. Picosecond laser with or without diffractive lens array (DLA) lens has been proved safe and effective for melasma. The effect of port-wine stains could only be increased by 5%-10% after 10 times of pulsed dye laser (PDL), so that more sessions has less benefit. Radiofrequency and focused ultrasound are still the mainstream devices for photoaging, but recently it has been proved that picosecond laser and CO 2 injection are also safe and effective. Nonablative laser is still the main device for improving facial pores and stretch marks.

Objective:To investigate and compare the effectiveness and safety of infrared bipolar radiofrequency (IR-RF) and nonablative fractional laser (NAFL) including 1 540 nm Er: glass and 1 927 nm thulium-doped laser, so as to choose a better pathway for clinical treatments on periorbital wrinkles.Methods:A prospective randomized self-controlled study was conducted in the Department of Laser and Aesthetic Medicine, Shanghai Ninth People’s Hospital. A total of 27 patients divided into 3 groups by random number table underwent split-face treatments between December 2019 and January 2021. Two of the three treatments were selected randomly for patients in each group: Group A, left side IR-RF vs. right side 1 540 nm NAFL; Group B, left side IR-RF vs. right side 1 927 nm NAFL; Group C, left side 1 540 nm NAFL vs. right side 1 927 nm NAFL. In total 3 sessions were given at 2 months interval. Therapeutic outcomes were evaluated by subjective (GAIS and Fitzpatrick wrinkle score) and objective (VISIA-CR) assessments. Side effects and pain visual evaluation (VAS) were also recorded. Wilcoxon signed-rank tests were used to evaluate the differences among the three therapeutic method , and relationships with VAS and patients’ age.Results:In total 30 patients (10 in each group) were recruited and finally 27 cases completed all treatments and follow-ups: Group A, 9 patients (male 3, female 6); Group B, 8 patients (male 3, female 5); Group C, 10 patients (male 4, female 6). The age distributions: Group A, 33-65 years, mean 36.9 years; Group B, 28-67 years, mean 38.6 years; Group C, 25-58 years, mean 37.8 years. GAIS comparisons: no statistical differences were found in each group between baseline and post-treatment ( P>0.05). Fitzpatrick wrinkle score: the overall analysis showed significant improvements were not found in IR-RF treated-side but were observed in 1 540 nm and 1 927 nm NAFL treated sides ( P<0.05). Furthermore, the 1 927 nm NAFL treated side showed more decreased scores than 1 540 nm NAFL treated side ( P<0.05). The VISIA analysis of feature counts of skin texture showed similar result. Besides, the patients over 50 years old showed significantly improvements compared with the ones under this age threshold in IR-RF treated sides ( P<0.05). The pain VAS in IR-RF treated side was significant lower than NAFL-treated side (2.2 vs. 5.8, P<0.05). Only one patient reported post-inflammatory hyperpigmentation (PIH) in 1540 nm NAFL treated side, which disappeared progressively in 4 months after last treatment. Conclusion:Nonablative fractional laser is effective and safe in improving periorbital wrinkles. Infrared bipolar radiofrequency might be more suitable for elderly patients especially with low pain level.

This commentary reviews the updates on laser and aesthetic medicine in recent two years and provide the evidence-based conclusion for recent laser treatments for our patients. Progress has been made in the following respects. Combined laser or drug treatment is better than single treatment for hypertrophic scar. The picosecond laser has recently been shown to be safe and effective for Asian atrophic acne scars. Picosecond laser with or without diffractive lens array (DLA) lens has been proved safe and effective for melasma. The effect of port-wine stains could only be increased by 5%-10% after 10 times of pulsed dye laser (PDL), so that more sessions has less benefit. Radiofrequency and focused ultrasound are still the mainstream devices for photoaging, but recently it has been proved that picosecond laser and CO 2 injection are also safe and effective. Nonablative laser is still the main device for improving facial pores and stretch marks.