The clinical and genetic characteristics of the family reported with neurodevelopmental syndrome caused by the SPTBN1 gene mutation were analyzed for clinical diagnosis.The proband was a boy, 2 years and 3 months old, admitted to the Department of Neurology, Guangzhou Women and Children′s Medical Center in June 2022 with comprehensive developmental delays as the main manifestation.The boy was backward in development since childhood.He was able to raise his head at the age of 3 months and sit alone at the age of 11 months.He could stand up with support but was unable to climb.He occasionally spoke polysyllabic words.The proband′s elder brother, 3 years and 1 month old, was able to walk at the age of 1 year and 6 months, and could speak " Mom and Dad" consciously and understand some instructions.He liked to play with other children.The mother of the proband was mentally retarded, while the father and grandparents of the proband had no symptoms.The proband was found to have a heterozygous mutation of the SPTBN1 gene (NM_003128.3), c.811G>A (p.Val271Met).The proband′s mother and elder brother also had a heterozygous mutation, which, however, was not detected in the proband′s father.The neurodevelopmental syndrome caused by the SPTBN1 gene mutation is rare in China, which can be manifested as language and motor delays and intellectual disabilities from early childhood, and individuals with the same genetic variation show different clinical phenotypes.

Bone organoids can simulate the complex structure and function of the bone tissues, which makes them a frontier technology in organoid researches. Bone organoids show a tremendous potential of applications in bone disease modeling, bone injury repair, and medicine screening. Although advancements have been made so far in constructing bone organoids with functional structures like mineralization, bone marrow, trabecular bone, callus, woven bone, etc, the researches in this field are confronted with numerous challenges such as lack of standardized construction strategies and unified evaluation criteria, which limits their further promotion and application. To standardize researches in bone organoids, the Orthopedic Expert Committee of Geriatric Branch of Chinese Association of Gerontology and Geriatrics, the Youth Osteoporosis Group of Orthopedic Branch of Chinese Medical Association, the Osteoporosis Group of Orthopedic Surgeon Branch of Chinese Medical Doctor Association, and the Osteoporosis Committee of Shanghai Association of Integrated Traditional Chinese and Western Medicine organized related experts to formulate Expert consensus on the construction, evaluation, and application of bone organoids ( version 2024) based on an evidence-based approach. A total of 17 recommendations were put forth, aiming to standardize researches and clinical applications of bone organoids and enhance their value in scientific research and clinical practice.

Methods:A total of 392 patients with seasonal allergic rhinitis were selected from the population of the epidemiological investigation project of allergic diseases in Hohhot, Inner Mongolia. The project was led by Department of Allergy, Beijing Shijitan Hospital, Capital Medical University, and assisted by Hohhot First Hospital from April to May 2023. The patients were randomly divided into a spleen aminopeptide group (296 cases) and control group (96 cases) at a ratio of 3∶1, and the enrollment period was from June 1 to 14, 2023. The treatment group was treated with spleen aminopeptide oral solution for 12 weeks starting from 4-6 weeks (±7 days) before the pollen dispersal period, while the control group was treated with a simulated agent of spleen aminopeptide oral solution. Both the treatment group and the control group were treated with oral antihistamines and/or nasal glucocorticoids as needed during the pollen dispersal period. Evaluate the therapeutic effect by comparing the symptom scores, drug scores and quality of life scores of the two groups, and detect the expression levels of cytokines in serum. Symptom scores, quality of life scores, drug scores and laboratory results were compared by independent sample t test/Kruskal-Wallis test and χ2 test/Fisher′s exact test. Results:Compared with the control group, spleen aminopeptide treatment for 12 weeks significantly improved symptoms of nasal congestion [ M( Q1, Q3):2(1, 2) vs. 2(1, 3), H=6.308, P<0.05], nasal itching [ M( Q1, Q3):2(1, 2) vs. 2(1, 3), H=4.966, P<0.05], sneezing [ M( Q1, Q3):2(1, 2) vs. 2(1, 3), H=5.245, P<0.05], runny nose [ M( Q1, Q3):2(1, 2) vs. 2(1, 3), H=5.41, P<0.05] and tearing [ M( Q1, Q3):1(0, 2) vs. 1(0, 3), H=4.664, P<0.05]. At 12 weeks of treatment, the scores of nasal symptoms and ocular symptoms in control group and experimental group were significantly increased compared with baseline ( P<0.05). In experimental group, nasal congestion [ M( Q1, Q3):1(0, 1) vs. 1(0, 2), H=4.042, P<0.05], eye itching/foreign body sensation/redness symptom scores [ M( Q1, Q3):1(0, 2) vs. 1(0, 2), H=5.302, P<0.05] and total scores [ M( Q1, Q3):4(-1, 9) vs. 5(0, 12.5), H=3.958, P<0.05] were significantly increased. The antihistamine drug score of the splenic peptide treatment group at 6 weeks were lower than that of the control group ( H=4.232, P<0.05). After 12 weeks of treatment, the antihistamine drug score [ M( Q1, Q3):10(0, 24) vs. 19(2, 36.5), H=6.67, P<0.05] and the total drug score [ M( Q1, Q3):28.5(5, 77.5) vs. 46(6, 155.5), H=3.995, P<0.05] were significantly lower than those of the control group. The serum IL-17A levels of the treatment group were significantly lower than those of the control group after 6 weeks (0.7±1.77 vs. 0.85±1.67 ,H=10.08, P<0.05) and 12 weeks (0.81±1.63 vs. 0.94±1.73, H=5.196, P<0.05) of splenic aminopeptide treatment. Conclusions:Early treatment with spleen aminopeptide oral solution can significantly improve nasal and ocular symptoms of patients with seasonal allergic rhinitis, reduce the use of drugs during the onset period, and improve the quality of life. It may exert an immunomodulatory effect by reducing the expression level of IL-17A in the serum of patients.Objects:To conduct a study on the prevention and treatment of seasonal allergic rhinitis in Hohhot, Inner Mongolia, evaluate the preventive and therapeutic effects of spleen aminopeptide oral solution on seasonal allergic rhinitis, and explore its related mechanisms.

Objective:The purpose of this study was to investigate the characteristics of distortion product otoacoustic emissions (DPOAE) in patients with auditory neuropathy (AN). The factors affecting DPOAE elicitation rate of each frequency, elicitation rate of each ear and change rate of first and last diagnosis in the natural course were analyzed.Methods:The sample was obtained from the Multicenter Study on Clinical Diagnosis and Intervention of AN (registration number: ChiCTR2100050125), and the diagnostic criteria for AN were based on the Chinese Clinical Practice Guidelines of Auditory Neuropathy (version 2022). Patients with bilateral AN who underwent 2 or more DPOAE tests were screened and divided into infant groups (≤3 years old) and non-infant groups (>3 years old) according to the age of detection, and the trend of DPOAE elicitation rate of each frequency, elicitation rate of each ear and change rate in the natural course of disease were analyzed, in order to explore the relevant influencing factors.Results:A total of 165 patients (330 ears) with AN were included in the study. The overall DPOAE elicitation rate per ear was 77.0%±29.4% at the initial diagnosis and 65.1%±35.2% at the final diagnosis, with a reduction observed in the elicitation rate of 171 ears (51.82%). In the infant group, there were 49 cases (98 ears), including 28 males and 21 females, whose found age ranged from 0 to 3 years old, with a median age of 0.7 years. DPOAE elicitation rate per ear was 57.9%±35.5% in the initial diagnosis, and 32.4%±32.1% in the final diagnosis, with a reduction observed in the elicitation rate of 69 ears (70.41%). In the non-infant group, there were 116 cases (232 ears), including 59 males and 57 females, ranging in found age from 3.9 to 40 years old, with a median age of 14 years old. DPOAE elicitation rate per ear was 84.6%±23.4% in the initial diagnosis, and 78.3%±27.1% in the final diagnosis, with a reduction observed in the elicitation rate of 102 ears (43.97%). Age was found to be correlated with DPOAE changes by multicategorical unordered logistic regression analysis ( B=-0.224, OR=0.799, P<0.001). Conclusions:The elicitation rate of DPOAE in AN patients decreases or even disappears with increasing disease duration; The rate of DPOAE extraction is found to be lower in infant patients with auditory neuropathy (AN) compared to non-infant AN patients. Additionally, it is observed that the decrease in DPOAE extraction rate is more pronounced in infant AN patients as the disease progressed, as compared to non-infant AN patients. DPOAE and cochlear microphonic potentials should be fully combined for accurate diagnosis, and regular follow-up should be conducted to understand the natural course of the disease and give personalized guidance and assistance.

Methods:A total of 392 patients with seasonal allergic rhinitis were selected from the population of the epidemiological investigation project of allergic diseases in Hohhot, Inner Mongolia. The project was led by Department of Allergy, Beijing Shijitan Hospital, Capital Medical University, and assisted by Hohhot First Hospital from April to May 2023. The patients were randomly divided into a spleen aminopeptide group (296 cases) and control group (96 cases) at a ratio of 3∶1, and the enrollment period was from June 1 to 14, 2023. The treatment group was treated with spleen aminopeptide oral solution for 12 weeks starting from 4-6 weeks (±7 days) before the pollen dispersal period, while the control group was treated with a simulated agent of spleen aminopeptide oral solution. Both the treatment group and the control group were treated with oral antihistamines and/or nasal glucocorticoids as needed during the pollen dispersal period. Evaluate the therapeutic effect by comparing the symptom scores, drug scores and quality of life scores of the two groups, and detect the expression levels of cytokines in serum. Symptom scores, quality of life scores, drug scores and laboratory results were compared by independent sample t test/Kruskal-Wallis test and χ2 test/Fisher′s exact test. Results:Compared with the control group, spleen aminopeptide treatment for 12 weeks significantly improved symptoms of nasal congestion [ M( Q1, Q3):2(1, 2) vs. 2(1, 3), H=6.308, P<0.05], nasal itching [ M( Q1, Q3):2(1, 2) vs. 2(1, 3), H=4.966, P<0.05], sneezing [ M( Q1, Q3):2(1, 2) vs. 2(1, 3), H=5.245, P<0.05], runny nose [ M( Q1, Q3):2(1, 2) vs. 2(1, 3), H=5.41, P<0.05] and tearing [ M( Q1, Q3):1(0, 2) vs. 1(0, 3), H=4.664, P<0.05]. At 12 weeks of treatment, the scores of nasal symptoms and ocular symptoms in control group and experimental group were significantly increased compared with baseline ( P<0.05). In experimental group, nasal congestion [ M( Q1, Q3):1(0, 1) vs. 1(0, 2), H=4.042, P<0.05], eye itching/foreign body sensation/redness symptom scores [ M( Q1, Q3):1(0, 2) vs. 1(0, 2), H=5.302, P<0.05] and total scores [ M( Q1, Q3):4(-1, 9) vs. 5(0, 12.5), H=3.958, P<0.05] were significantly increased. The antihistamine drug score of the splenic peptide treatment group at 6 weeks were lower than that of the control group ( H=4.232, P<0.05). After 12 weeks of treatment, the antihistamine drug score [ M( Q1, Q3):10(0, 24) vs. 19(2, 36.5), H=6.67, P<0.05] and the total drug score [ M( Q1, Q3):28.5(5, 77.5) vs. 46(6, 155.5), H=3.995, P<0.05] were significantly lower than those of the control group. The serum IL-17A levels of the treatment group were significantly lower than those of the control group after 6 weeks (0.7±1.77 vs. 0.85±1.67 ,H=10.08, P<0.05) and 12 weeks (0.81±1.63 vs. 0.94±1.73, H=5.196, P<0.05) of splenic aminopeptide treatment. Conclusions:Early treatment with spleen aminopeptide oral solution can significantly improve nasal and ocular symptoms of patients with seasonal allergic rhinitis, reduce the use of drugs during the onset period, and improve the quality of life. It may exert an immunomodulatory effect by reducing the expression level of IL-17A in the serum of patients.Objects:To conduct a study on the prevention and treatment of seasonal allergic rhinitis in Hohhot, Inner Mongolia, evaluate the preventive and therapeutic effects of spleen aminopeptide oral solution on seasonal allergic rhinitis, and explore its related mechanisms.

Objective:To evaluate the effectiveness of correcting breast ptosis using the rotational filling of an inferolaterally pedicled tongue-shaped parenchymal flap via a double periareolar incision.Methods:A retrospective study was conducted on 34 female patients (68 breasts) with breast ptosis treated at the Department of Plastic Surgery at the Affiliated Friendship Plastic Surgery Hospital of Nanjing Medical University from January 2016 to June 2023. The patients＇ ages ranged from 23 to 53 years, with an average of (37.4±7.9) years. All patients underwent correction of breast ptosis using an inferolaterally pedicled tongue-shaped parenchymal flap via a double periareolar incision. Pre-operative and post-operative measurements were taken to assess the corrective outcomes, including mammary base width (MBW), areola diameter (AD), nipple-to-nipple distance (NN), suprasternal notch-to-nipple distance (SSN-N), nipple-to-inframammary fold distance (N-IMF), and thoracic circumference at the nipple level (TN). Patients＇ satisfaction was assessed using the BREAST-questionnaire (BREAST-Q) module.Results:Postoperative first-stage wound healing was achieved in all 34 patients without complications such as hematoma, infection, or nipple necrosis. The follow-up period ranged from 6 to 60 months, with a median of 12 months. Early postoperative observations showed periareolar folds, which disappeared within 3 to 6 months in 31 cases, while mild periareolar folds, persisted for up to 12 months in 3 cases. Four patients reported reduced nipple sensation postoperatively. Measurements showed a statistically significant increase in TN and a reduction in NN, SSN-N, AD, N-IMF, and MBW compared to preoperative values (all P<0.001). BREAST-Q scores indicated significant improvements in satisfaction with breasts, psychosocial well-being and physical well-being, with preoperative scores of (21.6±8.9), (42.4±11.9) and (49.7±12.9) scores increasing to (82.3±8.5), (81.9±8.1) and (81.2±8.3) scores, respectively (all P<0.001). Conclusions:The double periareolar incision technique with rotational filling of an inferolaterally pedicled tongue-shaped glandular flap is a safe and effective method for correcting breast ptosis.

Objective:To report cases of multiple mitochondrial dysfunction syndrome 2 (MMDS2) caused by BOLA3 gene mutation, hoping to help clinical diagnosis. Methods:The medical records of a child with MMDS2 admitted to the Department of Neurology, Guangzhou Women and Children′s Medical Center in November 2021 were analyzed, and the clinical, imaging characteristics and prognosis of MMDS2 were summarized by literature review.Results:This 1 year and 9 months old male had a disease that started in childhood, with motor function regression and hyperlactatemia. Head magnetic resonance imaging indicated white matter lesions, and gene examination indicated the homozygous variation of BOLA3 gene c.295C>T(p.Arg99Trp). The diagnosis of MMDS2 was clear for the child. After treatment, the clinical symptoms and imaging of the child recovered significantly. Through literature review, 13 children with MMDS2 reported in 7 English literatures were reviewed. These cases had similar manifestations with the case reported in this study. Among them, 1 case recovered and 8 cases died in infancy. Conclusions:MMDS2 patients often show nervous system dysfunction such as motor regression, elevated lactate and white matter lesions, which often cause multiple system disorders. Some children die early, but some of them can be recovered.

As a new type of medical service project, "Internet + nursing service" has become a new trend in the development of nursing. Ningbo area started the exploration of "Internet + nursing service" as early as the end of 2015, and gradually formed the Ningbo model of "government-led, regionalized layout, and online and offline collaborative services, medical professional support, market-based operation". And made the innovative practice of "medical insurance pay at home". By the end of December 2021, there were 6 200 registered nurses on the platform, and a total of 20 993 door-to-door services were provided. 197 medical institutions settled on the platform and carried out 49 home service projects. This paper introduced the exploration experience and practical results of "Internet + nursing service" in Ningbo, and provided reference and reference for the advancement of this work.

Objective:To investigate the characteristics of resting energy expenditure (REE) in children with cerebral palsy (CP) graded with different levels of Gross Motor Function Classification System (GMFCS), and to evaluate the accuracy and association of commonly used REE prediction formulas in children with CP.Methods:It was a retrospective study involving 36 children with CP aged 24-144 months who visited the Third Affiliated Hospital of Zhengzhou University between September 2021 and August 2022.REE was measured by the indirect calorimetry.Based on the GMFCS, children with CP were divided into grade Ⅰ-Ⅱ group (20 cases), grade Ⅲ group (6 cases) and grade Ⅳ-Ⅴ group(10 cases). During the same period, 11 age-matched healthy children were included in control group.The measured REE (MREE) between children with CP and healthy controls was compared.Predicted REE (PREE) calculated by the Harris-Benedict, WHO, Schofield-W, Schofield-WH and Oxford prediction formulas were compared with MREE in children for their consistency and correlation.Independent samples were analyzed using t-test or Mann- Whitney U test, and categorical data were analyzed using Chi- square test.Using paired t-test and Pearson linear correlation analysis to analyze the correlation between MREE and PREE.The accuracy of PREE values calculated by different formulas was assessed using the root mean square error. Results:The MREE in control group and children with CP were (952.18±270.56) kcal/d and (801.81±201.89) kcal/d, respectively.There was no significant difference in the MREE between grade Ⅰ-Ⅱ group versus control group[(868.30±194.81) kcal/d vs.(952.18±270.56) kcal/d, P>0.05], and grade Ⅲ group versus control group [(813.17±192.48) kcal/d vs.(952.18±270.56) kcal/d, P>0.05]. The MREE was significantly lower in grade Ⅳ-Ⅴ group than that of control group [666.00(513.50, 775.50) kcal/d vs.(952.18±270.56) kcal/d, P=0.011]. There were no significant difference between MREE and PREEs calculated by Harris-Benedict, WHO, Schofield-W, Schofield-WH, and Oxford (all P>0.05). The correct classification fraction calculated by the 5 formulas were 33.3%, 47.2%, 41.7%, 47.2%, and 41.7%, respectively.The r values of the consistency of PREE calculated by the 5 formulas were 0.585, 0.700, 0.703, 0.712, and 0.701, respectively.The Blande-Altman Limits of Agreement were (-297.77, 359.22), (-245.60, 326.94), (-250.62, 316.05), (-242.22, 177.36) and (-241.28, 325.81), respectively.The clinically acceptable range was -80.18 to 80.18 kcal/d.The root mean square error were 168.09 kcal/d, 149.64 kcal/d, 146.24 kcal/d, 144.23 kcal/d and 148.77 kcal/d, respectively. Conclusions:The MREE values decreased significantly in children with CP classified as CMFCS grade Ⅳ and Ⅴ.When REE cannot be regularly monitored by indirect calorimetry to develop nutritional support programs, children with CP may be prioritized to estimate REE using the prediction formula of Schofield-WH.

Objective:To explore the cognition and nursing needs of patients with urinary incontinence after prostate cancer surgery on "Internet+ nursing service", so as to provide basis for the implementation of high-quality continuous nursing service.Methods:According to the phenomenological research method, 15 patients with urinary incontinence after radical prostatectomy in the Urology Surgery Department of the Affiliated Hospital of Medical School, Ningbo University from October to December 2021 were selected as the research object by intentional sampling method. Semi-structured interview was used to collect data, and Colazzi method was used to sort out, analyze and refine the subject.Results:The patients' awareness of "Internet+ nursing service" was biased. Many factors affected the willingness of patients with urinary incontinence to use "Internet+ nursing service". Factors that promoted willingness to use included public health emergency, traffic, physical and psychological factors. Factors impeding willingness to use included information security, operational and economic factors. The need for the content of "Internet+ nursing service" included the need for rehabilitation treatment related knowledge and supportive relationships. The need for "Internet+ nursing service" included the need to establish a "circle of friends" to obtain support from patients, the need for "online consultation, offline nursing", and the need to enrich the form of health education.Conclusions:The medical and nursing staff should give full play to the role of "Internet+ nursing service", and according to the characteristics of patients with urinary incontinence, enrich the "Internet+ nursing service" in the form of combination of graphics and text, video games, punch card interaction, to meet the needs of patients in rehabilitation training, doctor-nurse communication, patient support and other aspects, while strengthening the convenience of the operation of "Internet+ nursing service" and the timeliness of the service, so as to promote the rapid development of "Internet+ nursing service".