To report the first case of congenital ichthyosis with woolly hair in China, and to elucidate its genetic variant profile. A 28-year-old female patient presented with rashes on the trunk and limbs for 28 years. Dermatological examination revealed dry and rough skin over the entire body, with well-defined, polygonal, dark brown, adherent scales densely distributed over the trunk and extremities. No significant abnormalities were observed in the mucous membranes, teeth, or nails. The patient exhibited uniformly distributed, woolly and curly hair with a soft, dry texture and normal density; no significant hair breakage or brittleness was observed, while the eyebrows appeared sparse. Hair microscopy showed irregular axial twisting of hair strands at varying intervals; scanning electron microscopy (SEM) revealed irregular hair shafts with some segments appearing flat in a belt-like pattern, and magnified SEM images further demonstrated hair cuticle damage on the surface of hair shafts, manifesting as localized upward curling and longitudinal grooves, indicating structural damage to the hair shafts. Whole-exome sequencing identified a homozygous variant c.124dupC in exon 3 of the PRSS8 gene in the proband, resulting in a frameshift mutation (p.Gln42Profs*24) in the PRSS8 protein. According to the guidelines of the American College of Medical Genetics and Genomics as well as the patient's clinical manifestations, this variant could be preliminarily classified as pathogenic. A diagnosis of syndromic ichthyosis was made. This case represents the first report of syndromic ichthyosis caused by PRSS8 variants in China and the second report in the world, and this condition is proposed to be tentatively named as "ichthyosis-woolly hair syndrome".

Objective To discuss the application of ultrasound multimodal diagnostic mode combined with ultrasonic precision interventional technology in differentiating the benign from malignant solid breast masses.Methods A total of 396 patients who underwent breast surgery at the Wuwei Cancer Hospital of China from May 2021 to July 2023 were enrolled in this study.Within 2 weeks before surgery,multimodal ultrasound examination(including two-dimensional ultrasound,color Doppler ultrasound,elastic ultrasound,breast three-dimensional ultrasound,and contrast-enhanced ultrasound)and ultrasound-guided needle biopsy were performed in all patients.The consistency between the results of multimodal ultrasound examination,ultrasound-guided needle biopsy,combination diagnosis and the postoperative pathological diagnoses was analyzed.Results Of the 396 patients with solid breast mass,malignant lesion was seen in 237(59.85％)and benign lesion was seen in 159(40.15％).The sensitivity of multimodal ultrasound in diagnosing benign and malignant solid breast masses was 77.64％(184/237),the specificity was 90.57％(144/159),the positive predictive value was 92.46％(184/199),the negative predictive value was 73.10％(144/197),the accuracy was 82.83％(328/396),and the consistency with the postoperative pathological diagnosis was 0.656.The sensitivity of ultrasound-guided needle puncture in diagnosing benign and malignant solid breast masses was 94.51％(224/237),the specificity was 100.00％(159/159),the positive predictive value was 100.00％(224/224),the negative predictive value was 92.44％(159/172),the accuracy was 96.72％(383/396),and the consistency with the postoperative pathological diagnosis was 0.933.The sensitivity of multimodal ultrasound combined with ultrasound-guided needle puncture in diagnosing benign and malignant solid breast masses was 100.00％(228/228),the specificity was 94.64％(159/168),the positive predictive value was 96.20％(228/237),the negative predictive value was 100.00％(159/159),the accuracy was 97.73％(387/396),and the consistency with the postoperative pathological diagnosis was 0.937.Conclusion The ultrasound multimodal diagnostic mode and ultrasonic precision interventional technology can be used in differentiating the benign from malignant solid breast masses with high diagnostic accuracy.

To report the first case of congenital ichthyosis with woolly hair in China, and to elucidate its genetic variant profile. A 28-year-old female patient presented with rashes on the trunk and limbs for 28 years. Dermatological examination revealed dry and rough skin over the entire body, with well-defined, polygonal, dark brown, adherent scales densely distributed over the trunk and extremities. No significant abnormalities were observed in the mucous membranes, teeth, or nails. The patient exhibited uniformly distributed, woolly and curly hair with a soft, dry texture and normal density; no significant hair breakage or brittleness was observed, while the eyebrows appeared sparse. Hair microscopy showed irregular axial twisting of hair strands at varying intervals; scanning electron microscopy (SEM) revealed irregular hair shafts with some segments appearing flat in a belt-like pattern, and magnified SEM images further demonstrated hair cuticle damage on the surface of hair shafts, manifesting as localized upward curling and longitudinal grooves, indicating structural damage to the hair shafts. Whole-exome sequencing identified a homozygous variant c.124dupC in exon 3 of the PRSS8 gene in the proband, resulting in a frameshift mutation (p.Gln42Profs*24) in the PRSS8 protein. According to the guidelines of the American College of Medical Genetics and Genomics as well as the patient's clinical manifestations, this variant could be preliminarily classified as pathogenic. A diagnosis of syndromic ichthyosis was made. This case represents the first report of syndromic ichthyosis caused by PRSS8 variants in China and the second report in the world, and this condition is proposed to be tentatively named as "ichthyosis-woolly hair syndrome".

Objective:To investigate the predictive value and risk relationship of preoperative serum high-density lipoprotein cholesterol (HDL-C), milk fat globule-epidermal growth factor 8 (MFG-E8), and 24-hour postoperative lactate load in acute kidney injury (AKI) following cardiac valve surgery.Methods:A retrospective analysis was conducted on 60 patients who underwent cardiac valve surgery at the Cardiovascular Surgery Department of Yan′an University Affiliated Hospital from January 2020 to December 2023 and developed postoperative AKI (AKI group). Another 60 patients who underwent the same surgery during the same period but did not develop AKI were selected as the control group. Preoperative and postoperative laboratory results and general clinical data were compared between the two groups. Receiver operating characteristic (ROC) curve analysis was used to evaluate the predictive value of preoperative serum HDL-C, MFG-E8, and 24-hour postoperative lactate load for AKI. A logistic regression model was employed to analyze the risk relationship between these three indicators and AKI.Results:The AKI group had significantly lower preoperative serum HDL-C [(1.06±0.13)mmol/L] and MFG-E8 [(413.6±73.0)ng/L] compared with the control group [HDL-C (1.15±0.18)mmol/L, MFG-E8 (461.8±85.7)ng/L], while the 24-hour postoperative lactate load [(155.8±29.0)mmol/L] was significantly higher than that of the control group [(128.1±25.0)mmol/L] (all P<0.05). The area under the ROC curve (AUC) values for preoperative HDL-C, MFG-E8, and 24-hour postoperative lactate load in predicting AKI following cardiac valve surgery were 0.642, 0.611, and 0.818, respectively. Logistic regression analysis revealed that decreased preoperative HDL-C ( OR=0.822), decreased preoperative MFG-E8 ( OR=0.674), increased 24-hour postoperative lactate load ( OR=1.781), prolonged cardiopulmonary bypass time ( OR=1.848), prolonged aortic cross-clamp time ( OR=1.470), elevated preoperative serum creatinine (Scr) ( OR=1.941), and increased 24-hour postoperative fluid balance ( OR=1.775) were independent risk factors for AKI following cardiac valve surgery (all P<0.05). Conclusions:Patients who developed AKI after cardiac valve surgery had lower preoperative serum HDL-C and MFG-E8 levels and higher 24-hour postoperativelactate load. Among these, the 24-hour postoperative lactate load demonstrated significant predictive value for AKI, and all three indicators were closely associated with AKI occurrence.

Objective:To investigate the predictive value and risk relationship of preoperative serum high-density lipoprotein cholesterol (HDL-C), milk fat globule-epidermal growth factor 8 (MFG-E8), and 24-hour postoperative lactate load in acute kidney injury (AKI) following cardiac valve surgery.Methods:A retrospective analysis was conducted on 60 patients who underwent cardiac valve surgery at the Cardiovascular Surgery Department of Yan′an University Affiliated Hospital from January 2020 to December 2023 and developed postoperative AKI (AKI group). Another 60 patients who underwent the same surgery during the same period but did not develop AKI were selected as the control group. Preoperative and postoperative laboratory results and general clinical data were compared between the two groups. Receiver operating characteristic (ROC) curve analysis was used to evaluate the predictive value of preoperative serum HDL-C, MFG-E8, and 24-hour postoperative lactate load for AKI. A logistic regression model was employed to analyze the risk relationship between these three indicators and AKI.Results:The AKI group had significantly lower preoperative serum HDL-C [(1.06±0.13)mmol/L] and MFG-E8 [(413.6±73.0)ng/L] compared with the control group [HDL-C (1.15±0.18)mmol/L, MFG-E8 (461.8±85.7)ng/L], while the 24-hour postoperative lactate load [(155.8±29.0)mmol/L] was significantly higher than that of the control group [(128.1±25.0)mmol/L] (all P<0.05). The area under the ROC curve (AUC) values for preoperative HDL-C, MFG-E8, and 24-hour postoperative lactate load in predicting AKI following cardiac valve surgery were 0.642, 0.611, and 0.818, respectively. Logistic regression analysis revealed that decreased preoperative HDL-C ( OR=0.822), decreased preoperative MFG-E8 ( OR=0.674), increased 24-hour postoperative lactate load ( OR=1.781), prolonged cardiopulmonary bypass time ( OR=1.848), prolonged aortic cross-clamp time ( OR=1.470), elevated preoperative serum creatinine (Scr) ( OR=1.941), and increased 24-hour postoperative fluid balance ( OR=1.775) were independent risk factors for AKI following cardiac valve surgery (all P<0.05). Conclusions:Patients who developed AKI after cardiac valve surgery had lower preoperative serum HDL-C and MFG-E8 levels and higher 24-hour postoperativelactate load. Among these, the 24-hour postoperative lactate load demonstrated significant predictive value for AKI, and all three indicators were closely associated with AKI occurrence.

Objective: To investigate the characteristics of breakthrough cases of varicella in Haishu District, Ningbo City, Zhejiang Province from 2017 to 2022, so as to provide the evidence for varicella prevention and control. Methods: Information on reported cases of varicella and vaccination in Haishu District from 2017 to 2022 were collected through the China Infectious Disease Reporting Management Information System and the Immunization Program Information Management System of Zhejiang Province. The breakthrough cases who had received 1 or 2 doses of varicella vaccine 42 days before the onset of disease were selected. The distribution of sex, age, region and the interval between onset and last immunization were descriptively analyzed. Results: A total of 1 563 varicella cases were reported from 2017 to 2022. There were 928 breakthrough cases (59.37%), of which 660 cases with 1-dose immunization history (42.23%) and 268 cases with 2-dose immunization history (17.15%). The proportion of 1-dose breakthrough cases in total annual cases showed a decreasing trend (P<0.05) from 2017 to 2022, while there was no significant tendency on the proportion of cases with 2-dose immunization history (P>0.05). There were 392 males (59.39%) and 268 females (40.61%) with 1-dose immunization history. There were 150 males (55.97%) and 118 females (44.03%) with 2-dose immunization history. Breakthrough cases with 1- and 2- dose immunization history had an median age of 13.00 (interquartile range, 4.00) and 9.00 (4.00) years, respectively, and the difference was statistically significant (P<0.05). The regional distribution of the breakthrough cases with 1- and 2- dose immunization history was mainly in the rural-urban fringe, with 319 cases (48.33%) and 137 cases (51.12%), respectively, and the difference was statistically significant (P<0.05). The median interval between onset and last immunization was 12.00 (interquartile range, 3.00) and 4.00 (3.00) years, respectively, and the difference was statistically significant (P<0.05). Conclusions The breakthrough cases of varicella in Haishu District from 2017 to 2022 were mainly cases with 1-dose immunization history, males, and residents in rural-urban fringe. The age was older and the interval between onset and the last immunization was longer in cases with 1-dose immunization history than in cases with 2-dose immunization history.

ObjectiveTo evaluate the clinical effect of Jiechang Buxu pills on chronic relapsing ulcerative colitis （syndrome of spleen-kidney Yang deficiency） and the repair effect on mucosal barrier injury. MethodA total of 108 patients were randomly assigned into observation （54 cases） and control （54 cases） groups. Both groups were treated with mesalazine enteric-coated tablets， 0.5 g/time， 3 times/d. In addition， the observation group received Jiechang Buxu pills， 10 g/time， 3 times/d， and the control group received simulant of Jiechang Buxu pills， 10 g/time， 3 times/d. Both groups were treated for 3 consecutive months. During monthly follow-up， clinical response， clinical remission rate， C-reactive protein （CRP） compliance rate， fecal calprotectin （FC） compliance rate， and endoscopic mucosal healing rate were compared. The early recurrence rate was recorded after 3 months of follow-up. The modified Mayo score， mucosal histological score， colonoscopic mucosal score， inflammatory bowel disease questionnaire （IBDQ） score， and syndrome score of spleen-kidney Yang deficiency were compared before and after treatment. The levels of hypoxia-inducible factor-1α （HIF-1α）， diamine oxidase （DAO）， D-lactic acid （D-LA）， interleukin（IL）-1β， IL-6， IL-17A， IL-22， tumor necrosis factor-α （TNF-α）， T helper 17 （Th17）， and regulatory T cells （Treg）， and Th17/Treg ratio were measured and calculated before and after treatment. ResultThe clinical response rate， clinical remission rate， and CRP compliance rate in the observation group were higher than those in the control group （P<0.05， P<0.01） 1， 2 and 3 months after treatment. The FC compliance rate in the observation group was higher than that in the control group （P<0.05） 2 and 3 months after treatment. After treatment， the observation group had higher endoscopic mucosal healing rate （P<0.01） and lower early recurrence rate （P<0.05） than the control group. In addition， the observation group had lower Mayo score， mucosal histological score， colonoscopic mucosal score， and syndrome score of spleen-kidney Yang deficiency （P<0.01）， higher IBDQ score （P<0.01）， lower levels of HIF-1α， DAO， D-LA， IL-1β， IL-6， IL-17A， TNF-α， Th17， and Th17/Treg and higher levels of IL-22 and Treg （P<0.01） than the control group. ConclusionJiechang Buxu pills combined with mesalazine enteric-coated tablets can improve the clinical response rate， clinical remission rate， CRP compliance rate， FC compliance rate， and endoscopic mucosal healing rate， reduce the early recurrence rate and disease activity， promote histological remission， and improve the quality of life in the patients with chronic relapsing ulcerative colitis （syndrome of spleen-kidney Yang deficiency）. The therapy may exert the therapeutic effect by inhibiting inflammation， inducing intestinal mucosal immune tolerance， and protecting the function of intestinal mucosal barrier.

Liver failure(LF) is a rapidly progressing critical illness with a high mortality rate in clinical practices.Artificial liver therapy has been a major cure for LF.However, for LF infants and toddlers, therapeutic options for artificial liver have remained limited due to a great lack of weight-matched blood purification supplies.In recent years, our center has applied double plasma molecular adsorption plus plasmapheresis for managing LF children during perioperative period of liver transplantation.Treatment is smooth with an excellent efficacy of removing toxins.Here our institutional experiences were summarzied.

Autosomal recessive congenital ichthyosis caused by CERS3 mutations is extremely rare in clinical practice. We recently identified a family of autosomal recessive congenital ichthyosis and performed multigene exome sequencing for hereditary skin diseases to identify causative genes. Mutation analysis revealed compound heterozygous mutations of c.746A>G(from the mother) and exon12 deletion(from the father)in CERS3 were detected in the proband, which were verified by Sanger sequencing and co-segregated with the ichthyosis phenotype in the proband and her parents. These mutations were both reported for the first time. For the treatment, the proband received an oral acitretin capsules of 20 mg once daily. After 3-month follow up, the patient's lesion improved significantly.

Objective:To explore the risk factors for the occurrence of thrombocytopenia (TCP) within 2 weeks after pediatric liver transplantation (LT) and examine the relationship between the occurrence of TCP and prognosis.Methods:From January 2021 to November 2021, clinical data were retrospectively reviewed for 162 pediatric LT recipients aged under 4 years at Organ Transplantation Center of Tianjin First Central Hospital.Based upon the lowest value of platelet count at Week 2 post-operation, they were assigned into two groups of TCP (n=90) and non-TCP (n=72). General preoperative profiles, intraoperative findings, postoperative complications, types of commonly used antibiotics, anticoagulant dosing and prognosis of two groups were compared.Univariate and multivariate analyses were utilized for examining the independent risk factors for TCP.Receiver operating characteristic (ROC) curve was plotted for examining the cut-off value of independent risk factors for diagnosing TCP.Results:Among them, 90 (55.56%) developed TCP within 2 weeks post-operation and 25(15.43%) developed TCP at Day 1 post-operation.The median preoperative platelet count was 178×10 9/L and the lowest value was 65×10 9/L at Day 3(1-4) post-operation with a declining rate of 63.5% and platelet count of recipient normalized at Day 6(4-7.25) post-operation.The results of univariate analysis showed statistically significant inter-group differences in operative duration[(574.43±80.53)min vs.(526.75±72.42)min], intraoperative blood loss[400(300, 550)ml vs.320(300, 400)ml], red blood cell transfusion[2(2, 3)U vs.2(1.5, 2.0)U], preoperative platelet count[178.5(141.75, 242.5)×10 9/L vs.257 (209.75, 357)×10 9/L], postoperative infection rate[27.8%(25/90)vs.13.9%(10/72)] and dosing rates of piperacillin sodium and tazobactam sodium[8.9%(8/90)vs.25.0%(18/72)] ( P<0.05). Multivariate Logistic regression analysis revealed statistically significant inter-group differences in operative duration( P=0.008), red blood cell transfusion( P=0.01), preoperative platelet count( P<0.01) and postoperative infection rate ( P=0.02). The results of ROC curve analysis showed that the cut-off values of operative duration, red blood cell transfusion and preoperative platelet count were 535 min, 2.75 U and 183.5×10 9/L respectively.Length of ICU stay was higher in TCP group than that in non-TCP group, and the difference was statistically significant [4(3, 5) vs.3(3, 4) day, P=0.006]. Conclusions:LT children aged under 4 years with intraoperative red blood cell transfusion>2.75 U, operative duration>535 min and preoperative platelet count<183.5×10 9/L are more likely to develop post-transplantation TCP.And occurrence of TCP prolongs the length of ICU stay in pediatric recipients.