A 20-year-old male patient presented to the Department of Dermatology of Peking Union Medical College Hospital with complaints of an 8-year history of facial scarring, swelling of the lower limbs, and a 4-year history of scalp thickening. Physical examination showed thickening furrowing wrinkling of the skin on the face and behind the ears, ciliary body hirsutism, blepharoptosis, and cutis verticis gyrate. Both lower limbs were swollen, especially the knees and ankles. The skin of the palms and soles of the feet was keratinized and thickened. Laboratory examination using bone and joint X-ray showed periostosis of the proximal middle phalanges and metacarpals of both hands, distal ulna and radius, tibia and fibula, distal femurs, and metatarsals.Genetic testing revealed two variants in SLCO2A1, c.1658T > A and c.96+4A > C.Through multidisciplinary consultation, we confirmed the diagnosis of pachydermoperiostosis.

OBJECTIVE: To explore the epidemiological characteristics of knee osteoarthritis (KOA) among the elderly in the community, and its correlation with bone mass loss. METHODS: A cross-sectional study was conducted on elderly community population over 50 year old from 12 community health service centers in Zhejiang province. Their gender, age, body mass index (BMI), T value and KOA diagnosis were collected using face to face questionnaire survey. Univariate regression was used to analyze the influence of age, gender, BMI and bone loss on KOA. Logistic multivariate regression model was used to analyze the independent effect of bone mass loss on KOA. RESULTS: Among 4 173 subjects in this study, 1 710 of them were had a KOA. The prevalence rate was 40.9%. The mean age, the proportion of females and the mean BMI in KOA patients were (65.5±3.8) years old, 67.7%(1 158/1 710) and(24.59±1.28) kg·m^-2, respectively, which were significantly higher than (58.5±3.2) years old, 51.3%(1 263/2 463), and (23.48±1.25) kg·m^-2 in non-KOA subjects (P<0.001). In the population aged from 60 to 69 years old, the influence of osteopenia and osteoporosis on the prevalence of KOA was[OR=1.21, 95%CI(1.00, 1.46), P=0.053 2], [OR=1.42, 95%CI(1.14, 1.78), P=0.002 2]. The influence of male and female osteoporosis on the prevalence of KOA was [OR=1.52, 95%CI(1.16, 1.99), P=0.002 7] and [OR=1.87, 95%CI(1.51, 2.32), P<0.000 1], respectively. In the population of 24 kg·m^-2≤BMI<28 kg·m^-2, the influence of osteopenia and osteoporosis on the prevalence of KOA was [OR=1.47, 95%CI(1.21, 1.80), P=0.000 1], [OR=2.69, 95%CI(2.11, 3.42), P<0.000 1], respectively. After controlling the confounding factors of age, gender and BMI, compared with people with normal bone mass, the effect of osteopenia on the prevalence of KOA was [OR=1.34, 95%CI(1.08, 1.67), P=0.009 2], and the effect of osteoporosis on the prevalence of KOA was [OR=1.38, 95%CI(1.06, 1.79), P=0.017 9]. CONCLUSION Elderly overweight women are more likely to develop KOA. Bone mass loss is an independent risk factor for KOA, which will significantly increase the prevalence of KOA in people overweight or aged 60 to 69 years old.
Humans ; Female ; Male ; Aged ; Osteoarthritis, Knee/etiology* ; Middle Aged ; Cross-Sectional Studies ; Bone Density ; Aged, 80 and over ; Incidence ; Body Mass Index ; China/epidemiology* ; Osteoporosis/epidemiology*

OBJECTIVES: To evaluate the safety and efficacy of thiotepa (TT)-containing conditioning regimens for allogeneic hematopoietic stem cell transplantation (HSCT) in children with inborn errors of immunity (IEI). METHODS: Clinical data of 22 children with IEI who underwent HSCT were retrospectively reviewed. Survival after HSCT was estimated using the Kaplan-Meier method. RESULTS: Nine patients received a traditional conditioning regimen (fludarabine + busulfan + cyclophosphamide/etoposide) and underwent peripheral blood stem cell transplantation (PBSCT). Thirteen patients received a TT-containing modified conditioning regimen (TT + fludarabine + busulfan + cyclophosphamide), including seven PBSCT and six umbilical cord blood transplantation (UCBT) cases. Successful engraftment with complete donor chimerism was achieved in all patients. Acute graft-versus-host disease occurred in 12 patients (one with grade III and the remaining with grade I-II). Chronic graft-versus-host disease occurred in one patient. The incidence of EB viremia in UCBT patients was lower than that in PBSCT patients (P<0.05). Over a median follow-up of 36.0 months, one death occurred. The 3-year overall survival (OS) rate was 100% for the modified regimen and 88.9% ± 10.5% for the traditional regimen (P=0.229). When comparing transplantation types, the 3-year OS rates were 100% for UCBT and 93.8% ± 6.1% for PBSCT (P>0.05), and the 3-year event-free survival rates were 100% and 87.1% ± 8.6%, respectively (P>0.05). CONCLUSIONS TT-containing conditioning for allogeneic HSCT in children with IEI is safe and effective. Both UCBT and PBSCT may achieve high success rates.
Humans ; Retrospective Studies ; Transplantation Conditioning/methods* ; Thiotepa/therapeutic use* ; Hematopoietic Stem Cell Transplantation/adverse effects* ; Male ; Female ; Child, Preschool ; Infant ; Child ; Transplantation, Homologous ; Graft vs Host Disease ; Adolescent

OBJECTIVE: To summarize and analyze the characteristics of delayed hemolytic transfusion reaction in children, in order to provide a scientific basis for clinical prevention, and ensure the safety of children's blood transfusion. METHODS: The basic situation, clinical symptoms and signs, diagnosis time and disappearance time of alloantibody of delayed hemolytic transfusion reaction in children were retrospectively analyzed. The serological test, routine blood test, biochemical detection and urine analysis results were compared pre- and post-transfusion. RESULTS: Among 15 164 children with repeated blood transfusion, 23 cases occurred delayed hemolytic transfusion reactions, with an incidence rate of 0.15%, and mainly children with thalassemia and acute leukemia. 39.13% of delayed hemolytic reactions occurred in children with more than 20 times of blood transfusions. Anemia was the main clinical symptom in 86.96% of children. 4.35% of children had hypotension and dyspnea. Serological test results showed that the positive rate of direct antiglobulin test was 91.30%, and that of erythrocyte homologous antibody test was 100%. Erythrocyte alloantibodies were common in Rh and Kidd blood group systems, accounting for 73.91% and 13.04%, respectively. Laboratory test results showed that hemoglobin, reticulocyte, spherocyte, total bilirubin, indirect bilirubin, lactate dehydrogenase, serum ferritin and urine color were significantly different after transfusion compared with those before transfusion (all P <0.05). The average diagnosis time of delayed hemolytic transfusion reactions was 18.56 days, and the average disappearance time of erythrocyte alloantibodies was 118.43 days. CONCLUSION The incidence of delayed hemolytic transfusion reaction is high in children with repeated blood transfusion, and the disappearance time of erythrocyte homologous antibody is long. Blood matched ABO, Rh and Kidd blood group antigens should be transfused prophylactically. Once diagnosed, erythrocyte alloantibody corresponding to antigen-negative blood should be used throughout the whole process.
Humans ; Child ; Retrospective Studies ; Child, Preschool ; Transfusion Reaction ; Male ; Female ; Infant ; Adolescent ; Isoantibodies/blood* ; Blood Transfusion

Objective This study aimed to understand the epidemic status and phylogenetic relationships of rotavirus group A(RVA)in the Pearl River Delta region of Guangdong Province,China. Methods This study included individuals aged 28 days-85 years.A total of 706 stool samples from patients with acute gastroenteritis collected between January 2019 and January 2020 were analyzed for 17 causative pathogens,including RVA,using a Gastrointestinal Pathogen Panel,followed by genotyping,virus isolation,and complete sequencing to assess the genetic diversity of RVA. Results The overall RVA infection rate was 14.59%(103/706),with an irregular epidemiological pattern.The proportion of co-infection with RVA and other pathogens was 39.81%(41/103).Acute gastroenteritis is highly prevalent in young children aged 0-1 year,and RVA is the key pathogen circulating in patients 6-10 months of age with diarrhea.G9P[8](58.25%,60/103)was found to be the predominant genotype in the RVA strains,and the 41 RVA-positive strains that were successfully sequenced belonged to three different RVA genotypes in the phylogenetic analysis.Recombination analysis showed that gene reassortment events,selection pressure,codon usage bias,gene polymorphism,and post-translational modifications(PTMs)occurred in the G9P[8]and G3P[8]strains. Conclusion This study provides molecular evidence of RVA prevalence in the Pearl River Delta region of China,further enriching the existing information on its genetics and evolutionary characteristics and suggesting the emergence of genetic diversity.Strengthening the surveillance of genotypic changes and gene reassortment in RVA strains is essential for further research and a better understanding of strain variations for further vaccine development.

The Ehlers-Danlos syndrome(EDS)is a rare inherent connective tissue disorder.The prev-alence of EDS in the population is estimated at one out of ten thousand to one out of a hundred thousand.The vascular EDS(vEDS)are rare among the subtypes but are the worst in prognosis.The article reports a case of vEDS admitted to the hospital.The patient was a young man complaining of a sudden onset of aphasia in right hemiparalysis and severe left abdominal pain for unknown reasons.The diagnosis was made after the genetic testing.The patient suffered from vEDS.Then,the multi-disciplinary team(MDT)made a treatment plan tailored to this young patient.The complexity in classification and delusive presentations of the EDS make the correct diagnosis very challenging.This article hopes to report this case and to share the experiences to the bet-ter understanding of this disease.

Objective To compare the oral cleansing effects of the microbubble toothbrush and the conventional pulsed oral irrigator to provide references for users.Methods Ninety identical 3D-printed resin tooth models were grouped and subjected to repeated experiments,which were divided randomly into five groups including a microbubble toothbrush high-speed gear(GN-H)group,a microbubble toothbrush medium-speed gear(GN-M)group,a microbubble low-speed gear(GN-L)group,a conventional pulsed oral irrigator high-speed gear(W-H)group and a conventional pulsed oral irrigator low-speed gear(W-L)group,with 18 teeth in each group.The cleansing effects of the microbubble toothbrush and the conventional pulsed oral irrigator were evaluated in terms of irrigating strength and abilities for eliminating plaque and debris.Results Both the two types of water flossers were provided with high irrigating strength and effectively reduced plaque and debris on tooth surfaces,and the GN-H,GN-M and GN-L groups behaved better significantly than the remained groups.The order of the five groups was GN-H group＞GN-M group＞W-H group＞GN-L group＞W-L group for irrigating strength,GN-H group＞GN-M group＞GN-L group＞W-H group＞W-L group for plaque removal,GN-H group＞GN-M group＞W-H group＞GN-L group＞W-L group for debris removal,with all the differences being statistically significant(P＜0.05).Conclusion Both the two types of water flossers remove plaque and debris effectively,while the microbubble toothbrush gains advantages over the conventional pulsed oral irrigator.[Chinese Medical Equipment Journal,2024,45(9):67-72]

Objective:To investigate the diagnosis and strategy of individualized functional rhinoplasty based on the overall evaluation of the nasal cavity as a integration.Methods:A prospective study was carried out in the patients who underwent endoscopic functional rhinoplasty at the Department of Otorhinolaryngology, the First Affiliated Hospital of Chongqing Medical University from February 2018 to August 2021. The overall evaluation of the internal and external structure and function of the nasal cavity was performed before surgery, and the individualized surgical strategies were developed. According to the surgical strategy, nasal septum correction, inferior turbinate ablation, inferior turbinate fracture displacement, inferior turbinate submucous resection, dorsal extended cartilage graft, crooked nose correction, prosthesis or autologous cartilage implantation, hump reduction and osteotomy were performed to adjust the nasal function and aesthetics. Internal nasal valve (INV) angle, INV collapse grade, INV cross-sectional area, and external nasal valve effectiveness (ENVE) index were used to evaluate the structure of nasal valve area. Nasal obstruction symptom assessment (NOSE) scale and nasal resistance [including total nasal resistance (RT), nasal resistance differential ratio (R 1r)] was used to evaluate nasal ventilation function. Facial clinimetric evaluation questionnaire rhinoplasty module (FACE-Q RM), rhinoplasty outcome evaluation (ROE) scale, external nasal subunit measurement was used to evaluate nasal appearance, and self-rating depression scale (SDS) and self-rating anxiety scale (SAS) was used to evaluate psychological status. Finally, the correlation between patient satisfaction and subjective and objective parameters were analyzed. The data before and after operation were compared by paired t-test. Correlation was tested by Pearson analysis. Results:A total of 50 patients were included, including 18 males and 32 females, ranging in age from 23 to 52 years, mean age 35.7 years. All patients had symptoms of nasal congestion, of which 28 cases with crooked nose deformity, 12 cases with nasal valve stenosis, 6 cases with saddle nose deformity, and 4 cases with hump nose. Compared with preoperative, postoperative INV angle was significantly increased, INV collapse grade was decreased, INV cross-sectional area was increased, ENVE index was increased ( P<0.05). After operation, the NOSE score decreased, and nasal resistance showed that RT and R 1r decreased, indicating that nasal congestion symptoms were relieved significantly ( P<0.05). The postoperative FACE-Q RM and ROE scores increased, indicating that patients’ nasal appearance satisfaction increased ( P<0.05), external nasal subunit measurement showed that the upper nasal alar width and lower nasal alar angle were reduced ( P<0.05), the measured value of residual structure has no significant change. Postoperative SDS and SAS scores were significantly lower than preoperative ones, and the difference was statistically significant ( P<0.05).Overall satisfaction was improved( P<0.05). Pearson correlation analysis showed that patient satisfaction was positively correlated with INV angle, INV cross-sectional area, ENVE index, and subjective nasal shape score (FACE-Q RM, ROE), and negatively correlated with INV collapse grade, NOSE score, and nasal resistance measurement, but had no correlation with external nasal subunit measurement. Conclusion:Combined with the overall evaluation of nasal structure, nasal ventilation function and external nasal aesthetics, it is beneficial to develop the diagnosis and treatment strategy of individualized functional rhinoplasty, so as to improve patient satisfaction.

Objective:To investigate the diagnosis and strategy of individualized functional rhinoplasty based on the overall evaluation of the nasal cavity as a integration.Methods:A prospective study was carried out in the patients who underwent endoscopic functional rhinoplasty at the Department of Otorhinolaryngology, the First Affiliated Hospital of Chongqing Medical University from February 2018 to August 2021. The overall evaluation of the internal and external structure and function of the nasal cavity was performed before surgery, and the individualized surgical strategies were developed. According to the surgical strategy, nasal septum correction, inferior turbinate ablation, inferior turbinate fracture displacement, inferior turbinate submucous resection, dorsal extended cartilage graft, crooked nose correction, prosthesis or autologous cartilage implantation, hump reduction and osteotomy were performed to adjust the nasal function and aesthetics. Internal nasal valve (INV) angle, INV collapse grade, INV cross-sectional area, and external nasal valve effectiveness (ENVE) index were used to evaluate the structure of nasal valve area. Nasal obstruction symptom assessment (NOSE) scale and nasal resistance [including total nasal resistance (RT), nasal resistance differential ratio (R 1r)] was used to evaluate nasal ventilation function. Facial clinimetric evaluation questionnaire rhinoplasty module (FACE-Q RM), rhinoplasty outcome evaluation (ROE) scale, external nasal subunit measurement was used to evaluate nasal appearance, and self-rating depression scale (SDS) and self-rating anxiety scale (SAS) was used to evaluate psychological status. Finally, the correlation between patient satisfaction and subjective and objective parameters were analyzed. The data before and after operation were compared by paired t-test. Correlation was tested by Pearson analysis. Results:A total of 50 patients were included, including 18 males and 32 females, ranging in age from 23 to 52 years, mean age 35.7 years. All patients had symptoms of nasal congestion, of which 28 cases with crooked nose deformity, 12 cases with nasal valve stenosis, 6 cases with saddle nose deformity, and 4 cases with hump nose. Compared with preoperative, postoperative INV angle was significantly increased, INV collapse grade was decreased, INV cross-sectional area was increased, ENVE index was increased ( P<0.05). After operation, the NOSE score decreased, and nasal resistance showed that RT and R 1r decreased, indicating that nasal congestion symptoms were relieved significantly ( P<0.05). The postoperative FACE-Q RM and ROE scores increased, indicating that patients’ nasal appearance satisfaction increased ( P<0.05), external nasal subunit measurement showed that the upper nasal alar width and lower nasal alar angle were reduced ( P<0.05), the measured value of residual structure has no significant change. Postoperative SDS and SAS scores were significantly lower than preoperative ones, and the difference was statistically significant ( P<0.05).Overall satisfaction was improved( P<0.05). Pearson correlation analysis showed that patient satisfaction was positively correlated with INV angle, INV cross-sectional area, ENVE index, and subjective nasal shape score (FACE-Q RM, ROE), and negatively correlated with INV collapse grade, NOSE score, and nasal resistance measurement, but had no correlation with external nasal subunit measurement. Conclusion:Combined with the overall evaluation of nasal structure, nasal ventilation function and external nasal aesthetics, it is beneficial to develop the diagnosis and treatment strategy of individualized functional rhinoplasty, so as to improve patient satisfaction.

Here,5 important pathogens carried by ticks in Maanshan City,Anhui Province,China were identified.In to-tal,642 ticks were collected from 13 villages around Maanshan City and identified by morphological and mitochondrial COI genes.The 16S rRNA gene of Francisella tularensis,ssrA gene of Bartonella,16S rRNA,ompA and ompB genes of Rickett-sia,16S rRNA and gltA genes of Anaplasma,and groEL and rpoB genes of Coxiella were sequenced.Reference sequences were retrieved from a public database.Phylogenetic trees were constructed with MEG A1 1.0 software.In total,36 Rickettsiae isolates were detected in 640 Haemaphysalis longicornis ticks,which included 20 isolates of Rickettsia heilongjian-gensis,16 of Candidatus Rickettsia jingxinensis,2 of Ana-plasma bovis,and 186 of Coxiella-like endosymbiont.R.hei-longjiangensis HY2 detected in this study and Anhui B8 strain,Ca.R.jingxinensis QL3 and those from Shanxi Prov-ince and Jiangsu Province,A.bovis JX4 and those from Shanxi Province were clustered on the same branch.Overall,17 ticks had combined infections and none of the 5 bacteria were detected in two Amblyomma testudinarium ticks.This is the first report of Ca.R.jingxinensis detected in H.longicornis ticks from Anhui Province.It is recommended that the two types of Rickettsia that cause spotted fever and A.bovis should be reported to local health authorities to initiate appropriate prevention and control measures.