Kashin-Beck disease (KBD), a common joint disorder that can lead to joint deformities and restricted mobility, significantly affects patients' quality of life. Traditional conservative treatments have shown limited efficacy. With advancements in total ankle replacement prosthesis and the successive updates of mobile and fixed -bearing in ankle prosthesis, more and more clinical trial results indicate that ankle prosthesis replacement is expected to become a new approach for treating KBD. This article reviews the progress in ankle prosthesis and studies their clinical application potential in KBD management.

Dental treatments for children and adolescents have unique clinical characteristics that differ from dental care for adults in terms of children's physiology, psychology, and behavior. These differences impose specific requirements on the application of local anesthesia in pediatric dental procedures. This article presents expert consensus on the principles of local anesthesia techniques in pediatric dental therapies, including the use of common anesthetic drugs and dosage control, safety and efficacy evaluation, and prevention and management of complications. The aim is to improve the safety and quality of pediatric dental treatments and offer guidance for clinical application by dentists.
Humans ; Child ; Anesthesia, Local/methods* ; Consensus ; Anesthesia, Dental/methods* ; Adolescent ; Anesthetics, Local/administration & dosage* ; Dental Care for Children

Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare familial autosomal dominant genetic disease with primary hyperparathyroidism, jaw tumors, kidney tumors and uterine tumors caused by cell division cycle 73 (CDC73) germline mutations. A 42-year-old male patient was admitted for pancreatitis and further examination revealed elevated PTH at 54.00pmol/L and a history of jaw tumors. This patient was diagnosed as HPT-JT finally and underwent upper right, lower right, and upper left parathyroid glands resection and genetic testing. Postoperative pathology revealed that atypical adenomatous nodules of parathyroid glands with extensive atypia and nucleus division and parathyroid hyperplasia and whole exome sequencing suggested that the CDC73 mutation.

Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare familial autosomal dominant genetic disease with primary hyperparathyroidism, jaw tumors, kidney tumors and uterine tumors caused by cell division cycle 73 (CDC73) germline mutations. A 42-year-old male patient was admitted for pancreatitis and further examination revealed elevated PTH at 54.00pmol/L and a history of jaw tumors. This patient was diagnosed as HPT-JT finally and underwent upper right, lower right, and upper left parathyroid glands resection and genetic testing. Postoperative pathology revealed that atypical adenomatous nodules of parathyroid glands with extensive atypia and nucleus division and parathyroid hyperplasia and whole exome sequencing suggested that the CDC73 mutation.

Kashin-Beck disease (KBD), a common joint disorder that can lead to joint deformities and restricted mobility, significantly affects patients' quality of life. Traditional conservative treatments have shown limited efficacy. With advancements in total ankle replacement prosthesis and the successive updates of mobile and fixed -bearing in ankle prosthesis, more and more clinical trial results indicate that ankle prosthesis replacement is expected to become a new approach for treating KBD. This article reviews the progress in ankle prosthesis and studies their clinical application potential in KBD management.

Humans ; Parathyroid Neoplasms/genetics* ; Molecular Biology ; Parathyroid Glands

Fusarium is the most common mold in clinical practice,which may cause superficial infection in hosts with normal immune function,such as keratitis and severe disseminated infection(primarily manifested as fungemia)in individuals with poor immune function.Prevention and treatment of fusaridiosis are associated with long-term survival of kidney transplant recipients.To promote the standardization of clinical diagnosis and treatment of invasive fusaridiosis in kidney transplant recipients,Branch of Organ Transplantation of Chinese Medical Association initiated and formulated"Guidelines for Clinical Diagnosis and Treatment of Invasive Fusaridiosis in Kidney Transplant Recipients in China".In this guideline,the levels of evidence and strengths of recommendation for each clinical problem were classified using Oxford Center for Evidence-based Medicine of 2009.Regarding 13 clinical problems related to clinical diagnosis and treatment of invasive fusaridiosis after kidney transplantation,14 recommendations were proposed in accordance with clinical diagnosis and treatment practice in China,aiming to promote the standardization of diagnosis and treatment of invasive fusaridiosis after kidney transplantation and improve long-term survival of both recipients and renal allografts after kidney transplantation.

Objective:To investigate the clinical features, diagnostic methods, treatment modalities, and prognosis of parathyroid multiglandular disease (PTMGD) in primary hyperparathyroidism (PHPT) .Methods:The clinical data of 29 patients with PTMGD who underwent surgery at the General Surgery Department of the Tianjin Medical University General Hospital from Dec. 2015 to Jul. 2023 were retrospectively analyzed, including the patients' preoperative and postoperative blood calcium and parathyroid hormone, the main clinical manifestations, the involvement of other systems, the main types of pathology, the accuracy of the various examinations, and the postoperative prognosis, etc., and were compared with the 291 patients who had undergone surgery for single-glandular lesion patients were compared. SPSS25 was used to analyze the data.Results:The age of onset of PTMGD was 52.7±1.9 years compared to 56.6±0.7 years in patients with monoglandular disease, P=0.047. Tumor diameter of PTMGD was (2.05±0.1) cm and (2.34±0.6) cm of monoglandular disease, P=0.006. The preoperative blood calcium was (2.56±0.59) mmol/L in PTMGD and (2.70±0.58) mmol/L in monoglandular disease, P=0.045. Preoperative parathyroid hormone (PTH), blood calcium, and Win values were positively correlated with maximum tumor diameter in patients with PTMGD (R-values of 0.362, 0.223, and 0.352, respectively) .Neck ultrasound, neck-enhanced CT and parathyroid nuclear imaging were used to localize and diagnose the diseased parathyroid glands in this group of cases.The accuracy rates were (14/25) 56%, (10/19) 53% and (11/24) 46% in patients with PTMGD, while in patients with monoglandular disease, the accuracy rates were (233/250) 89%, (131/152) 96% and (223/232) 86%. PTMGD accuracy rate was less than that of monoglandular disease,and was statistically significant ( P-value was less than 0.001 in all cases) .The accuracy of the combined localization diagnosis of the three tests in patients with PTMGD was then improved to (13/18) 72%. The pathology of PTMGD was predominantly parathyroid hyperplasia, 45/72 (63%), compared to that of monoadenopathy 18/291 (6%), P<0.001. Parathyroid adenomas predominated in patients with monoadenopathy compared to that of PTMGD, 237/291 (82%) vs. 24/72 (33%), and the proportion of parathyroid adenomas in patients with monoadenopathy was higher than that in patients with PTMGD, P<0.001. 23 patients with PTMGD were followed up, of whom 9 showed mild elevation of parathyroid hormone postoperatively, and 1 patient showed signs of hypoparathyroidism. Conclusion:The low age of onset of multiglandular lesions in primary hyperparathyroidism, mild biochemical tests, and the difficulty of accurately locating all lesions preoperatively warrant adequate preoperative evaluation to promptly identify patients with familial multiple endocrine adenomas, as well as intraoperative bilateral parathyroid exploration in patients with suspected multiglandular lesions.

Background::Heterotaxy (HTX) is a thoracoabdominal organ anomaly syndrome and commonly accompanied by congenital heart disease (CHD). The aim of this study was to analyze rare copy number variations (CNVs) in a HTX/CHD cohort and to examine the potential mechanisms contributing to HTX/CHD.Methods::Chromosome microarray analysis was used to identify rare CNVs in a cohort of 120 unrelated HTX/CHD patients, and available samples from parents were used to confirm the inheritance pattern. Potential candidate genes in CNVs region were prioritized via the DECIPHER database, and PNPLA4 was identified as the leading candidate gene. To validate, we generated PNPLA4-overexpressing human induced pluripotent stem cell lines as well as pnpla4-overexpressing zebrafish model, followed by a series of transcriptomic, biochemical and cellular analyses. Results::Seventeen rare CNVs were identified in 15 of the 120 HTX/CHD patients (12.5%). Xp22.31 duplication was one of the inherited CNVs identified in this HTX/CHD cohort, and PNPLA4 in the Xp22.31 was a candidate gene associated with HTX/CHD. PNPLA4 is expressed in the lateral plate mesoderm, which is known to be critical for left/right embryonic patterning as well as cardiomyocyte differentiation, and in the neural crest cell lineage. Through a series of in vivo and in vitro analyses at the molecular and cellular levels, we revealed that the biological function of PNPLA4 is importantly involved in the primary cilia formation and function via its regulation of energy metabolism and mitochondria-mediated ATP production. Conclusions::Our findings demonstrated a significant association between CNVs and HTX/CHD. Our data strongly suggested that an increased genetic dose of PNPLA4 due to Xp22.31 duplication is a disease-causing risk factor for HTX/CHD.

Objective:A high performance liquid chromatography (HPLC) method was developed to determine the enzymatic activity of CD38 in blood, which was the major enzyme responsible for consuming nicotinamide adenine dinucleotide (NAD). Additionally, the study aimed to detect the differences in CD38 enzymatic activity among individuals of varying ages and health statuses.Methods:A 50 μl whole blood matrix and enzyme reaction substrate of 150 μl β-NAD at a concentration of 500 μmol/L were selected for the analysis. To eliminate the impact of endogenous β-NAD, the whole blood sample was pre-incubated at 37 ℃ for 20 minutes before adding the substrate. The reaction was terminated by perchloric acid (PCA) after incubation at 37 ℃ for 40 min. The change in product nicotinamide (NAM) before and after the enzymatic reaction was measured by HPLC to calculate the CD38 activity. The linearity, limit of detection, limit of quantification, precision, and stability of the method were evaluated. The CD38 enzymatic activities in 60 healthy volunteers and 30 colorectal cancer patients in blood were determined by the developed method.Results:Pre-incubation at 37 ℃ for 20 minutes eliminated the effect of endogenous β-NAD. The correlation coefficient of NAM was 0.999 in the concentration range of 0.1-3.2 μmol/L, with limit of detection of 0.5 nmol/L and limit of quantification of 2.1 nmol/L. The average within-run imprecision ( CV) and total CV were 3.22%-4.03% and 2.91%-4.70%, respectively. The recovery rate ranged from 94.82% to 96.81%. The CD38 activity of whole blood was stable by storage at 4 ℃ for 48 hours, storage at room temperature for 8 hours, thawing of frozen whole blood at room temperature for 2 hours, or repeated freeze-thawing three times. NAM, NAD standards, and pre-treatment samples were stable after 48 hours at 4 ℃ and 8 hours at room temperature. CD38 activity gradually decreased with increasing concentration of the added CD38 inhibitor 4-aminoquinoline derivative (78c). Measurement of 60 healthy physical examination population samples showed significantly higher CD38 enzyme activity in the elderly group than that in the young group ( t=-2.776, P=0.007) and measurement of 30 colorectal cancer patients showed significantly higher CD38 enzyme activity than that in healthy people ( t=-2.572, P=0.012). Conclusion:The established HPLC method for determining CD38 enzymatic activity is characterized by its simplicity, efficiency, accuracy, and reproducibility. This technique serves as a valuable tool for investigating aging and aging-related diseases.