Objective:To explore the genetic etiology of a child with Renpenning syndrome (RS), and review the literature on the clinical characteristics and gene mutations of RS.Methods:A child with RS (patient 1) who was diagnosed and treated in the Pediatric Intensive Care Unit of the Third Affiliated Hospital of Zhengzhou University in November 2023 was selected as the research object. The medical history, family history, physical examination, cerebrospinal fluid examination, echocardiography, brain magnetic resonance imaging (MRI), brain magnetic resonance angiography, cardiac coronary CT angiography and intelligence quotient (IQ) score of child 1 were retrospectively collected. Peripheral venous blood samples were collected from patient 1, his parents, sister and brother, respectively. Genomic DNA was extracted from the child and his family members, and three-whole exome sequencing (Trios-WES) was performed. Sanger sequencing was used to verify the pedigree. Bioinformatics softwares (Mutation Taster, REVEL, SIFT, PolyPhen-2, GERP+ +, SWISS-MODEL) were applied. The pathogenicity of the detected variants was rated according to the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Classification of Genetic Variants (hereinafter referred to as the ACMG Guidelines). " PQBP1 gene" " Renpenning syndrome" " PQBP1 gene" " Renpenning syndrome" were used as keywords in Chinese and English, respectively. Case reports of patients with RS caused by PQBP1 gene variants were retrieved from Wanfang Data Knowledge Service Platform, China National Knowledge Infrastructure and PubMed database. The clinical features and gene variants of RS caused by PQBP1 gene variants were summarized and analyzed. This study was reviewed by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Approval No. 2024-334-01). Results:The patient 1, a 12-year-old boy, was admitted to the hospital due to fever and disturbance of consciousness. Cerebrospinal fluid test showed viral encephalitis caused by human herpesvirus 7 infection. The main clinical manifestations were unusual facies (microcephaly, long narrow face, microphthalmos, superior oblique palpebral fissure, hypertelorism of inner canthus, bulbous nasal columella) and mental retardation. Auxiliary examination showed than patient 1 had atrial septal defect, nodular heterotopia in the posterior horn of the left ventricle, angiodysplasia, and low IQ. The disease began in infancy, and there was no family history of related diseases. A hemizygous deletion, c. 459_462del (p.Arg153SerfsTer41), was identified in exon 5 of the PQBP1 gene in patient 1, which was inherited from his mother by Sanger sequencing. The results of bioinformatics analysis showed that the mutation was harmful. This variant was rated as pathogenic (PVS1+ PS4+ PM2_Supporting+ PP3) according to ACMG Guidelines. According to the literature search strategy set in this study, a total of 13 cases of RS were retrieved, involving 16 cases of RS patient caused by PQBP1 gene mutation (patients 2-17), including patient 1, a total of 17 cases of RS. Among the 17 patients, 16 male patients had hemizygous mutations in the X chromosome PQBP1 gene, and 1 female patient had heterozygous mutations, including 12 deletion frameshift nonsense mutations, 3 point missense mutations, and 2 duplication mutations. Except for two fetuses, all patients had special facial features and low IQ to varying degrees. Ten patients had abnormal development of one or more organs such as eyes, heart, brain, etc. Conclusion:The main clinical manifestations of RS are developmental delay, long narrow face, bulbous nose, microcephaly, and may be accompanied by heterotopia of gray matter of ventricle and congenital heart disease. The c. 459_462del (p.Arg153SerfsTer41) variant of the PQBP1 gene is the genetic basis of patient 1 in this study.

Chronic spontaneous urticaria (CSU) is a clinically common and therapeutically challenging chronic skin condition that significantly impairs patients' quality of life. With the increase in understanding of the pathogenesis of CSU, there has been a notable advancement in treatment strategies. The goals of treatment have shifted from symptomatic control to personalized precision medicine, comprehensive disease management, and enhancement of patients' quality of life. This article summarizes the latest advances in the subtyping, assessment, management strategies, and disease-modifying concepts of CSU, aiming to provide a new perspective for improving its clinical management.

Objective:To compare and analyze the similarities and differences in clinical manifestations, laboratory findings, pathological characteristics, and prognosis between urticarial vasculitis (UV) and chronic spontaneous urticaria with pigmentation (CSUwp) .Methods:A retrospective analysis was conducted on the clinical data and follow-up results from 35 UV patients and 54 CSUwp patients who attended the Department of Dermatology, Southwest Hospital, Army Medical University from 2014 to 2024. The clinical characteristics (duration of rash, pigmentation, petechiae and ecchymosis, itching, burning sensation, fever, fatigue, skin lesion characteristics, etc.) , laboratory test results, pathological features, and prognosis were compared between the two groups. Statistical analysis was carried out by t test, chi-square test, Mann-Whitney U test, and Kaplan-Meier survival analysis. Results:There were no significant differences in gender, age, or age of onset between the UV group and CSUwp group (all P < 0.05) . The proportions of patients with petechiae/purpura (68.57% [24/35] vs. 11.11% [6/54]) , and those with burning sensation (22.86% [8/35] vs. 3.70% [2/54]) were significantly higher in the UV group than in the CSUwp group (both P < 0.05) . Compared with the CSUwp patients, the UV patients presented with a greater number of lesions, larger lesion areas, and more frequent involvement of the lower limbs (all P < 0.05) , also showed significantly higher incidence rates of peripheral blood complement reduction, perivascular neutrophil infiltration, nuclear dust, fibrinoid necrosis of the vessel wall, and erythrocyte extravasation (all P < 0.05) , as well as more extensive dermal perivascular inflammation ( Z = -4.506, P < 0.001) . Among patients who achieved remission, the natural disease course was significantly longer in the CSUwp patients than in the UV patients (6.00 [2.5, 24] months vs. 2.00 [0.5, 24] months; Z = -2.618, P = 0.009]. However, the survival analysis showed no significant difference in the natural disease course or clinical outcomes between the two groups ( χ2 = 2.771, P = 0.096) . There were also no significant differences in rash duration or in the incidence rates of itching, angioedema, or joint pain between the two groups (all P > 0.05) . Conclusions:UV patients exhibited certain differences from CSUwp patients in clinical characteristics, laboratory test results, histopathological features, and prognosis. However, whether their natural disease courses differ requires further follow-up studies to confirm.

Chronic urticaria (CU) is one of the most common diseases in dermatology clinics, mainly characterized by recurrent wheals and pruritus. CU often co-exists with various comorbidities, including autoimmune diseases, infectious diseases, allergic diseases, mental diseases, metabolic syndrome, malignant tumors and endocrine system-related diseases. Currently, Chinese and international guidelines have not provided specific recommendations for screening comorbidities in CU. This review summarizes common comorbidities associated with CU, aiming to provide a reference for clinical diagnosis and treatment.

Objective To investigate the early clinical efficacy of minimally invasive cardiac surgery coronary artery bypass grafting (MICS CABG) via left intercostal small incision for multivessel coronary artery disease. Methods The patients who received off-pump CABG in the Central China Fuwai Hospital of Zhengzhou University from June 2021 to June 2023 were enrolled. Patients were divided into two groups according to the operative technique used, including a traditional midline sternotomy group and a left intercostal small incision group. The clinical data of the two groups were compared. Results A total of 143 patients were enrolled, including 70 patients in the traditional midline sternotomy group and 73 patients in the left intercostal small incision group. The age of the patients in the left intercostal small incision group and the traditional midline sternotomy group was (63.8±8.0) years and (63.0±7.8) years, respectively; the proportions of males were 69.9% and 74.3%, respectively. The differences were not statistically significant (all P>0.05). All patients in the two groups successfully completed the operation, and no patients in the left intercostal small incision group were converted to thoracotomy. The patients in the left intercostal small incision group showed less postoperative drainage within postoperative 24 hours [(239.4±177.7) mL vs. (338.0±151.9) mL, P<0.001], lower perioperative blood transfusion rate [32.9% (24/73) vs. 51.4% (36/70), P=0.028], higher postoperative myoglobin level within postoperative 24 hours [366.1 (247.9, 513.0) ng/mL vs. 220.8 (147.2, 314.9) ng/mL, P<0.001], shorter intensive care unit stay [45.5 (31.5, 67.5) h vs. 68.0 (46.0, 78.5) h, P=0.001] and postoperative hospital stay [(10.8±4.0) d vs. (13.1±5.3) d, P=0.028] compared to the traditional midline sternotomy group. There was no significant difference in the incidence of major adverse cardiac and cerebrovascular event between the two groups [2.7% (2/73) vs. 2.9% (2/70), P=1.000]. Conclusion Compared to the full median sternotomy, MICS CABG leads to a good clinical result with smaller trauma, faster overall recovery, and less perioperative blood transfusion.

Objective To compare perioperative outcomes of minimally invasive aortic valve surgery by a right anterior minithoracotomy (RAMT) and conventional sternotomy. Methods A retrospective analysis of patients who underwent isolated aortic valve surgeries in Central China Fuwai Hospital of Zhengzhou University between May 2021 and August 2023 with a minimal incision via the RAMT approach (a RAMT group) or conventional incision via the full sternotomy approach (a conventional group). A propensity score matching analysis was performed to balance preoperative data and compare perioperative data of the two groups. Results There were 58 patients in the RAMT group, including 46 males and 12 females with an average age of (52.0±14.1) years; 128 patients were enrolled in the conventional group, including 87 males and 41 females with an average age of (60.0±12.4) years. After propensity-score matching, there were 51 patients in each group. The RAMT group had a longer average operation time, cross-clamping time and cardiopulmonary bypass time compared to the conventional group (all P<0.05). However, ICU length of stay, ventilator-assisted time and postoperative hospital stay were significantly shorter in the RAMT group (all P<0.05). Patients in the RAMT group had lower 24 hour chest drain output (P<0.05). RAMT was associated with a trend towards a lower blood transfusion rate in comparison to the sternotomy group, although this was not statistically significant (P>0.05). The occurrence of all-cause death, and perioperative complications was also similar in both groups (P>0.05). Conclusion RAMT has less trauma, faster recovery, less postoperative drainage, and shorter hospital stay than conventional approach. RAMT in patients undergoing isolated aortic valve surgery is a safe approach.

OBJECTIVE: To explore the genetic etiology of a child with Renpenning syndrome (RS), and review the literature on the clinical characteristics and gene mutations of RS. METHODS: A child with RS (patient 1) who was diagnosed and treated in the Pediatric Intensive Care Unit of the Third Affiliated Hospital of Zhengzhou University in November 2023 was selected as the research object. The medical history, family history, physical examination, cerebrospinal fluid examination, echocardiography, brain magnetic resonance imaging (MRI), brain magnetic resonance angiography, cardiac coronary CT angiography and intelligence quotient (IQ) score of child 1 were retrospectively collected. Peripheral venous blood samples were collected from patient 1, his parents, sister and brother, respectively. Genomic DNA was extracted from the child and his family members, and Trios-whole exome sequencing (Trios-WES) was performed. Sanger sequencing was used to verify the pedigree. Bioinformatics softwares (Mutation Taster, REVEL, SIFT, PolyPhen-2, GERP++, SWISS-MODEL) were applied. The pathogenicity of the detected variants was rated according to the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Classification of Genetic Variants (hereinafter referred to as the ACMG Guidelines). "PQBP1 gene" "Renpenning syndrome" "PQBP1 gene" "Renpenning syndrome" were used as keywords in Chinese and English, respectively. Case reports of patients with RS caused by PQBP1 gene variants were retrieved from Wanfang Data Knowledge Service Platform, China National Knowledge Infrastructure and PubMed database. The clinical features and gene variants of RS caused by PQBP1 gene variants were summarized and analyzed. This study was reviewed by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Approval No. 2024-334-01). RESULTS The patient 1, a 12-year-old boy, was admitted to the hospital due to fever and disturbance of consciousness. Cerebrospinal fluid test showed viral encephalitis caused by human herpesvirus 7 infection. The main clinical manifestations were unusual facies (microcephaly, long narrow face, microphthalmos, superior oblique palpebral fissure, hypertelorism of inner canthus, bulbous nasal columella) and mental retardation. Auxiliary examination showed than patient 1 had atrial septal defect, nodular heterotopia in the posterior horn of the left ventricle, angiodysplasia, and low IQ. The disease began in infancy, and there was no family history of related diseases. A hemizygous deletion, c.459_462del (p.Arg153SerfsTer41), was identified in exon 5 of the PQBP1 gene in patient 1, which was inherited from his mother by Sanger sequencing. The results of bioinformatics analysis showed that the mutation was harmful. This variant was rated as pathogenic (PVS1+PS4+PM2_Supporting+PP3) according to ACMG Guidelines. According to the literature search strategy set in this study, a total of 13 cases of RS were retrieved, involving 16 cases of RS patient caused by PQBP1 gene mutation (patients 2-17), including patient 1, a total of 17 cases of RS. Among the 17 patients, 16 male patients had hemizygous mutations in the X chromosome PQBP1 gene, and 1 female patient had heterozygous mutations, including 12 deletion frameshift nonsense mutations, 3 point missense mutations, and 2 duplication mutations. Except for two fetuses, all patients had special facial features and low IQ to varying degrees. Ten patients had abnormal development of one or more organs such as eyes, heart, brain, etc. CONCLUSION: The main clinical manifestations of RS are developmental delay, long narrow face, bulbous nose, microcephaly, and may be accompanied by heterotopia of gray matter of ventricle and congenital heart disease. The c.459_462del (p.Arg153SerfsTer41) variant of the PQBP1 gene is the genetic basis of patient 1 in this study.
Humans ; Male ; Mutation ; Pedigree ; Child ; DNA-Binding Proteins/genetics* ; Nuclear Proteins/genetics* ; Female ; Exome Sequencing

Chronic spontaneous urticaria (CSU) is a clinically common and therapeutically challenging chronic skin condition that significantly impairs patients' quality of life. With the increase in understanding of the pathogenesis of CSU, there has been a notable advancement in treatment strategies. The goals of treatment have shifted from symptomatic control to personalized precision medicine, comprehensive disease management, and enhancement of patients' quality of life. This article summarizes the latest advances in the subtyping, assessment, management strategies, and disease-modifying concepts of CSU, aiming to provide a new perspective for improving its clinical management.

Objective:To compare and analyze the similarities and differences in clinical manifestations, laboratory findings, pathological characteristics, and prognosis between urticarial vasculitis (UV) and chronic spontaneous urticaria with pigmentation (CSUwp) .Methods:A retrospective analysis was conducted on the clinical data and follow-up results from 35 UV patients and 54 CSUwp patients who attended the Department of Dermatology, Southwest Hospital, Army Medical University from 2014 to 2024. The clinical characteristics (duration of rash, pigmentation, petechiae and ecchymosis, itching, burning sensation, fever, fatigue, skin lesion characteristics, etc.) , laboratory test results, pathological features, and prognosis were compared between the two groups. Statistical analysis was carried out by t test, chi-square test, Mann-Whitney U test, and Kaplan-Meier survival analysis. Results:There were no significant differences in gender, age, or age of onset between the UV group and CSUwp group (all P < 0.05) . The proportions of patients with petechiae/purpura (68.57% [24/35] vs. 11.11% [6/54]) , and those with burning sensation (22.86% [8/35] vs. 3.70% [2/54]) were significantly higher in the UV group than in the CSUwp group (both P < 0.05) . Compared with the CSUwp patients, the UV patients presented with a greater number of lesions, larger lesion areas, and more frequent involvement of the lower limbs (all P < 0.05) , also showed significantly higher incidence rates of peripheral blood complement reduction, perivascular neutrophil infiltration, nuclear dust, fibrinoid necrosis of the vessel wall, and erythrocyte extravasation (all P < 0.05) , as well as more extensive dermal perivascular inflammation ( Z = -4.506, P < 0.001) . Among patients who achieved remission, the natural disease course was significantly longer in the CSUwp patients than in the UV patients (6.00 [2.5, 24] months vs. 2.00 [0.5, 24] months; Z = -2.618, P = 0.009]. However, the survival analysis showed no significant difference in the natural disease course or clinical outcomes between the two groups ( χ2 = 2.771, P = 0.096) . There were also no significant differences in rash duration or in the incidence rates of itching, angioedema, or joint pain between the two groups (all P > 0.05) . Conclusions:UV patients exhibited certain differences from CSUwp patients in clinical characteristics, laboratory test results, histopathological features, and prognosis. However, whether their natural disease courses differ requires further follow-up studies to confirm.

Chronic urticaria (CU) is one of the most common diseases in dermatology clinics, mainly characterized by recurrent wheals and pruritus. CU often co-exists with various comorbidities, including autoimmune diseases, infectious diseases, allergic diseases, mental diseases, metabolic syndrome, malignant tumors and endocrine system-related diseases. Currently, Chinese and international guidelines have not provided specific recommendations for screening comorbidities in CU. This review summarizes common comorbidities associated with CU, aiming to provide a reference for clinical diagnosis and treatment.