Objectives: Hypoparathyroidism (HP) is a rare endocrine disorder caused by parathyroid hormone (PTH) defi ciency. The PTH is a candidate gene for familial isolated hypoparathyroidism (FIH). This study aimed to investigate the pathogenicity of two novel rare variants (RVs) ofPTH through in vitro functional study. Methods: Targeted next-generation sequencing was used to identify candidate gene mutations. Clinical data were retrospectively collected. Wild-type (WT) PTH was used as a template for site-directed mutagenesis to create mutant eukaryotic expression plasmids, which were transfected into cells. Treated with or without 4-phenylbu tyric acid (4-PBA), the levels of intact PTH (iPTH) and PTH (1-84) were measured by chemiluminescence, and protein expression was assessed using Western blotting. Results: Two patients carrying PTH mutations (c.154G > A: p.Val52Ile, c.270G > T: p.Leu90Phe) were identified.Patient 1, a 45-year-old male, presented with carpal and pedal numbness, muscle cramps, and low serum calcium (1.29 mmol/L). Patient 2, a 12-year-old female, had muscle twitches, convulsions, low calcium (1.50 mmol/L), and iPTH of 4 pg/mL. The iPTH or PTH (1-84) levels in the medium transfected with mutant Val52Ile and Leu90Phe PTH decreased by 31%–38%, and 51%–96% compared to WT (allP < 0.05), which were not rescued by 4-PBA. No significant changes in intracellular PTH expression were observed. Conclusions In this study, two novel RVs of PTH(Val52Ile and Leu90Phe) were identified that may impair hormone synthesis and secretion. Our study has broadened the mutation spectrum of the PTH and shed light on potential mechanisms underlying FIH.

Objectives: Hypoparathyroidism (HP) is a rare endocrine disorder caused by parathyroid hormone (PTH) defi ciency. The PTH is a candidate gene for familial isolated hypoparathyroidism (FIH). This study aimed to investigate the pathogenicity of two novel rare variants (RVs) ofPTH through in vitro functional study. Methods: Targeted next-generation sequencing was used to identify candidate gene mutations. Clinical data were retrospectively collected. Wild-type (WT) PTH was used as a template for site-directed mutagenesis to create mutant eukaryotic expression plasmids, which were transfected into cells. Treated with or without 4-phenylbu tyric acid (4-PBA), the levels of intact PTH (iPTH) and PTH (1-84) were measured by chemiluminescence, and protein expression was assessed using Western blotting. Results: Two patients carrying PTH mutations (c.154G > A: p.Val52Ile, c.270G > T: p.Leu90Phe) were identified.Patient 1, a 45-year-old male, presented with carpal and pedal numbness, muscle cramps, and low serum calcium (1.29 mmol/L). Patient 2, a 12-year-old female, had muscle twitches, convulsions, low calcium (1.50 mmol/L), and iPTH of 4 pg/mL. The iPTH or PTH (1-84) levels in the medium transfected with mutant Val52Ile and Leu90Phe PTH decreased by 31%–38%, and 51%–96% compared to WT (allP < 0.05), which were not rescued by 4-PBA. No significant changes in intracellular PTH expression were observed. Conclusions In this study, two novel RVs of PTH(Val52Ile and Leu90Phe) were identified that may impair hormone synthesis and secretion. Our study has broadened the mutation spectrum of the PTH and shed light on potential mechanisms underlying FIH.

Objectives: Hypoparathyroidism (HP) is a rare endocrine disorder caused by parathyroid hormone (PTH) defi ciency. The PTH is a candidate gene for familial isolated hypoparathyroidism (FIH). This study aimed to investigate the pathogenicity of two novel rare variants (RVs) ofPTH through in vitro functional study. Methods: Targeted next-generation sequencing was used to identify candidate gene mutations. Clinical data were retrospectively collected. Wild-type (WT) PTH was used as a template for site-directed mutagenesis to create mutant eukaryotic expression plasmids, which were transfected into cells. Treated with or without 4-phenylbu tyric acid (4-PBA), the levels of intact PTH (iPTH) and PTH (1-84) were measured by chemiluminescence, and protein expression was assessed using Western blotting. Results: Two patients carrying PTH mutations (c.154G > A: p.Val52Ile, c.270G > T: p.Leu90Phe) were identified.Patient 1, a 45-year-old male, presented with carpal and pedal numbness, muscle cramps, and low serum calcium (1.29 mmol/L). Patient 2, a 12-year-old female, had muscle twitches, convulsions, low calcium (1.50 mmol/L), and iPTH of 4 pg/mL. The iPTH or PTH (1-84) levels in the medium transfected with mutant Val52Ile and Leu90Phe PTH decreased by 31%–38%, and 51%–96% compared to WT (allP < 0.05), which were not rescued by 4-PBA. No significant changes in intracellular PTH expression were observed. Conclusions In this study, two novel RVs of PTH(Val52Ile and Leu90Phe) were identified that may impair hormone synthesis and secretion. Our study has broadened the mutation spectrum of the PTH and shed light on potential mechanisms underlying FIH.

Objective:To evaluate the effectiveness and safety of zoledronic acid in patients with Paget′s disease of bone based on clinical data from a single medical center.Methods:This retrospective study included 24 patients diagnosed with Paget′s disease of bone and treated with zoledronic acid at Peking Union Medical College Hospital between January 2009 and June 2020. Demographic data, clinical symptoms, treatment efficacy, and safety outcomes were collected. The primary efficacy measure was serum alkaline phosphatase(ALP) levels. Treatment was considered effective if ALP levels returned to normal or decreased by more than 75% from baseline in the difference between the ALP level and its normal median value.Results:Among the 24 patients with Paget′s bone disease, the most commonly affected site was the skull(in 17 cases). All patients received a single 5 mg intravenous infusion of zoledronic acid. Serum ALP levels significantly decreased after treatment. Among the 15 patients who completed at least 3 months of follow-up, all achieved treatment success. The median time for serum ALP levels to reach the target was 13.1(9.4, 26.1) weeks. In 12 patients, ALP levels normalized within a medium of 16.9(11.5, 37.3) weeks, and remained stable over a medium follow-up of 4.56(2.42, 5.71) years. The most common side effects were hypocalcemia(21 cases, 87.5%) and flu-like symptoms(17 cases, 70.8%). Seven patients had severe hypocalcemia(serum calcium<1.75 mmol/L), and they had higher baseline levels of ALP, calcium, and phosphorus compared to those with mild hypocalcemia.Conclusions:Zoledronic acid 5 mg intravenous infusion effectively controlled disease activity in patients with Paget′s disease of bone. Generally, Most patients achieved treatment goals within 3-4 months, with sustained remission for a median of 4 years. Hypocalcemia was the most frequent side effect, underscoring the importance of timely calcium and vitamin D supplementation.

Objectives: Hypoparathyroidism (HP) is a rare endocrine disorder caused by parathyroid hormone (PTH) defi ciency. The PTH is a candidate gene for familial isolated hypoparathyroidism (FIH). This study aimed to investigate the pathogenicity of two novel rare variants (RVs) ofPTH through in vitro functional study. Methods: Targeted next-generation sequencing was used to identify candidate gene mutations. Clinical data were retrospectively collected. Wild-type (WT) PTH was used as a template for site-directed mutagenesis to create mutant eukaryotic expression plasmids, which were transfected into cells. Treated with or without 4-phenylbu tyric acid (4-PBA), the levels of intact PTH (iPTH) and PTH (1-84) were measured by chemiluminescence, and protein expression was assessed using Western blotting. Results: Two patients carrying PTH mutations (c.154G > A: p.Val52Ile, c.270G > T: p.Leu90Phe) were identified.Patient 1, a 45-year-old male, presented with carpal and pedal numbness, muscle cramps, and low serum calcium (1.29 mmol/L). Patient 2, a 12-year-old female, had muscle twitches, convulsions, low calcium (1.50 mmol/L), and iPTH of 4 pg/mL. The iPTH or PTH (1-84) levels in the medium transfected with mutant Val52Ile and Leu90Phe PTH decreased by 31%–38%, and 51%–96% compared to WT (allP < 0.05), which were not rescued by 4-PBA. No significant changes in intracellular PTH expression were observed. Conclusions In this study, two novel RVs of PTH(Val52Ile and Leu90Phe) were identified that may impair hormone synthesis and secretion. Our study has broadened the mutation spectrum of the PTH and shed light on potential mechanisms underlying FIH.

Objective:To systematically review qualitative studies on the experiences of musculoskeletal symptoms in breast cancer patients undergoing endocrine therapy, and to gain insights into the initiation, development, and effects of these symptoms, along with their implications for patients, to guide the creation of targeted strategies for symptom management.Methods:The qualitative studies on the experiences of musculoskeletal symptoms in breast cancer patients undergoing endocrine therapy were performed across several databases, which included the Cochrane Library, Joanna Briggs Institute Evidence based Healthcare Center Database, PubMed, Embase, CINAHL, Web of Science, Scopus, CNKI, Wanfang Data, and Chinese Biomedical Literature Database. The retrieval period was from the establishment of the database to April 30, 2024. The studies' quality was evaluated utilizing the iteration of the Joanna Briggs Institute Qualitative Assessment and Review Instrument designed for qualitative research. Data synthesis was carried out using Meta-aggregation techniques.Results:A total of 15 articles were included and 41 results were extracted, which were grouped into 11 new categories and integrated into 3 primary themes: the manifestation of bone and joint symptoms was highly unique and varied, prominently featuring experiences such as migratory joint pain, morning stiffness, and cramps affecting both large and small joints, frequently associated with functional limitations; these symptoms significantly influence patients' everyday activities and mental health, contributing to feelings of anxiety, avoidance behaviors, fear, and a reduction in overall quality of life; to manage the intricate nature of their symptoms, patients employ a variety of coping mechanisms, such as engaging in physical activity, taking dietary supplements, consulting about medications, and seeking support from external sources.Conclusions:During endocrine therapy for breast cancer, patients exhibit diverse characteristics of musculoskeletal symptoms, and the resulting fear of recurrence, avoidance behaviors, and anxiety have a negative impact on their psychological well-being and overall health. Healthcare professionals should take into account individual differences, such as age, menopausal status, type of endocrine therapy, medication adherence, and factors that may exacerbate or alleviate symptoms, in order to effectively predict, assess, and manage bone and joint symptoms during endocrine therapy.

Objective To investigate the distribution of serum specific IgG antibodies against food in children with autism spectrum disorders(ASD),and provide experimental evidence for improving gastrointestinal symptoms of ASD children.Methods A retrospec-tive study was conducted on 411 children with ASD visited the Department of Psychology and Behavior of Hebei Children's Hospital from January 2021 to December 2022.Additionally,631 healthy children who underwent physical examination during the same period were collected as the healthy control group.Their venous blood samples were collected,and ELISA was used to detect the levels of 14 kinds of serum specific IgG antibodies against food.The distribution characteristics of food intolerance in children with different genders and ages were investigated.Results The total positive rate of specific IgG antibodies against food in children with ASD reached 91.84%(405/441).The top 3 positive rates of specific IgG antibodies were against egg(71.89%),milk(56.70%),and wheat(56.02%),respectively,which were significantly higher than those in the healthy control group(χ2=42.81,27.48,and 26.88,re-spectively,P＜0.05).The comparative results of gender composition showed that the positive rate of specific IgG antibody against rice in female ASD children(15.96%)was significantly higher than that in male ASD children(4.90%,χ2=11.84,P＜0.05).The posi-tive rates of specific IgG antibodies against egg and wheat in male and female ASD children were significantly higher than those in the healthy control group(χ2=19.44 and 4.42 for males,χ2=4.66 and 10.93 for females,P＜0.05).The positive rate of specific IgG anti-body against milk in male ASD children was significantly higher than that in the healthy control group(χ2=12.62,P＜0.05),while those against soybean and rice in female ASD children were also significantly higher than that in the healthy control group(χ2=7.00 and 5.42,P＜0.05).There were significant differences in the positive rates of food intolerance to milk and soybean in ASD children with different ages(χ2=13.74 and 9.70,P＜0.05)and they decreased with age.The positive rates of specific IgG antibody against wheat in ASD children aged 2-3 and 4-6 years were significantly higher than those in the healthy control group(χ2=5.78 and 4.55,P＜0.05).The positive rate of specific IgG antibody against milk in ASD children aged 4-6 years was significantly higher than that in the healthy control group(χ2=7.57,P＜0.05).Conclusion The highest positive rate of specific IgG antibodies against food in ASD chil-dren is against egg,which is not related to the patient's gender.Next are milk and wheat.The gastrointestinal issues and related food intolerance should be taken into account in the management of patients with ASD.

Objective To explore the application value of the PDCA(Plan-Do-Check-Act)cycle in hospital document supervision management,with the aim of improving document processing efficiency and optimizing administrative workflows.Methods A tertiary hospital in South China was selected as the study subject.In response to a low document completion rate in 2023(74.99％),a fishbone diagram analysis was conducted to identify key efficiency bottlenecks.A classified and hierarchical supervision model based on the PDCA cycle was established.Departments were grouped into high-volume(＞400 cases/year),medium-volume(100-400 cases/year),and low-volume(＜100 cases/year).Targeted interventions were implemented in low-efficiency departments using a"liaison officer+negative list+responsible person tracking"mechanism.Results After im-plementation,the completion rate in low-efficiency departments improved from 26.93％-87.86％ to 58.25％-100％(P=0.028).The hospital's overall average document completion rate reached 93.30％ in 2024,an 18.31％ increase compared to baseline.Conclusion The stratified document supervision model based on the PDCA cycle can significantly enhance administra-tive efficiency and provides practical reference for refined management in public hospitals.

Objective:To introduce the research and innovations around the application of aquatic rehabilitation techniques in the treatment of lumbago, and to summarize specific methods and applications in aeromedicine. Literature resource and selection Literature on the prevention and treatment of lumbago using aquatic rehabilitation techniques as well as on the rehabilitation of lumbago in pilots was retrieved and selected. Literature quotation Sixty-one references were cited. Literature synthesis Aquatic rehabilitation techniques can be classified into shower therapy, immersion therapy, and aquatic exercise therapy according to treatment regimens. Among them, immersion therapy and aquatic exercise therapy are commonly used in the treatment of lumbago. Aquatic rehabilitation techniques can effectively alleviate patients′ lumbago, improve their functional disorders, and enhance their quality of life. Prior to aquatic therapy, patients with lumbago need to have their motor function assessed to tailor the treatment protocol based on diagnostic findings and specific therapeutic objectives. Aquatic rehabilitation techniques, when used to prevent and treat lumbago in pilots under convalescence, are not only more effective than land-based training, but also more accessible to pilots due to their comfort and compliance. Many of our military rehabilitation and convalescent centers in China have integrated modern aquatic rehabilitation techniques into rehabilitation treatment by drawing on their rich water resources so as to improve the physical and mental health, social adaptability and military adaptability of pilots. Conclusions:When used for the prevention and treatment of lumbago, aquatic rehabilitation techniques are highly effective, safe and enjoyable, so they should be made more accessible to pilots during convalescence.

Objective To develop and validate risk prediction models utilizing five machine learning algorithms for assessing postoperative pulmonary infection(PPI)risk in lung cancer patients undergoing grade Ⅳ thoracoscopic surgery.Methods A retrospective cohort study included 2,380 lung cancer patients who underwent grade Ⅳ thoracoscopic surgery at a tertiary hospital in Shanghai(January 2022 to June 2024).Patients were stratified into training(n=1,665)and validation(n=715)cohorts.Five machine learning algorithms—Logistic regression(LR),artificial neural network(ANN),support vector machine(S VM),random forest(RF),and extreme gradient boosting(XGB)—were employed to construct predictive models.A nomogram was developed for clinical utility.Results Among 2,380 patients,226(9.5％)developed PPI.The Least Absolute Shrinkage and Se-lection Operator(LASSO)regression identified eight predictive variables:daily cigarette consumption,diabetes history,preoperative diffusing capacity,maximal tumor diameter,24-hour postoperative chest drainage volume,perioperative oral nutritional supplementation(ONS),postoperative urinary cathe-terization,and intraoperative pleural adhesion severity.All models demonstrated robust discrimina-tion,with area under the curve(AUC)values ranging from 0.862 to 0.947.The XGB model a-chieved superior performance(AUC=0.947,95％CI,0.937 to 0.962),followed closely by the LR model(AUC=0.926,95％CI,0.918 to 0.933).Conclusion Machine learning-based algo-rithms models effectively stratify PPI risk in lung cancer patients following grade Ⅳ thoracoscopic surgery.The derived nomogram provides a practical tool for perioperative risk management by healthcare providers.