[Clinicopathological analysis of 105 patients with fibrous dysplasia of cranio-maxillofacial region].

OBJECTIVE: To compare the clinicopathologic features and prognosis of the different types of fibrous dysplasia (FD) of cranio-maxillofacial region, so as to provide a new reference for clinicians to treat these patients and make prognostic judgement. METHODS: Clinical records, radiographic data and pathological information of 105 patients diagnosed with FD or McCune-Albright syndrome (MAS) at the Department of Oral Pathology, Peking University Hospital of Stomatology from January 2013 to December 2020 were collected. The patients were divided into 4 groups: monostotic FDs, polyostotic FDs, MAS and a specific type called craniofacial fibrous dysplasia (CFD) limited in the craniofacial region. The clinicopathological characteristics, treatment and follow-up data of each type were analyzed. RESULTS: Of all the 105 patients, 46 were males and 59 were females, with a male-to-female ratio of 1 ∶1.3. The onset age ranged from 0 to 56 years and the median age was 12 years. On the basis of different involvement conditions, 4 types were divided. The most common type was monostotic FDs (43 cases, 40.95%), including maxilla (29 cases), mandibular (12 cases) and zygoma (2 cases). 32 cases (30.48%) were diagnosed with polyostotic FDs, 7 cases (6.67%) were MAS, and 23 cases (21.90%) were CFDs confirmed by computed tomography (CT) analysis. CFD was clearly distinct from other types of FD, such as the patient gender and the serum alkaline phosphatase level in peripheral blood before operative surgery. The pathologic findings of various types FD were quite similar, whilst the predominant fibrous tissue hyperplasia could be observed in polyostotic FDs and MAS types. CONCLUSION: The clinicopathologic features of FD in the cranio-maxillofacial region are different from the FD lesions in other parts of the body. The clinicopathological features of CFD are significantly different from those of monostotic and polyostotic FDs in the cranio-maxillofacial region. Therefore, the clinicians should pay attention to distinguish CFD in clinic, imaging and pathology aspects, so as to further clarify its features in clinic management and prognosis.

[Clinical and genetic characteristics of Gitelman syndrome in 5 pedigrees].

Objective: To investigate the clinical and genetic characteristics of 5 pedigrees of Gitelman syndrome (GS), and summarize its advances in genetics, diagnosis and management. Methods: Five families with GS were identified and total genome DNA were extracted from the peripheral blood of all the family members. The exons and their flanking introns of SLC12A3 gene were amplified by PCR and screened for mutation using Autoassembler 2.0 software. Results: Six heterozygous SLC12A3 gene mutations were found in the five pedigrees, including two complex combination of deletion and insertion mutation (c.486-490delTACGGinsA and c. 965-1_969delgCGGACinsACCGAAA and c. 976-977delGT). These mutations were predicted to change the normal protein structure. Conclusion: These 6 SLC12A3 mutations are the major cause of the five pedigrees of GS.

[Association between congenital hypothyroidism and in-hospital adverse outcomes in very low birth weight infants].

Objective: To investigate the association between congenital hypothyroidism (CH) and the adverse outcomes during hospitalization in very low birth weight infants (VLBWI). Methods: This prospective, multicenter observational cohort study was conducted based on the data from the Sino-northern Neonatal Network (SNN). Data of 5 818 VLBWI with birth weight <1 500 g and gestational age between 24-<37 weeks that were admitted to the 37 neonatal intensive care units from January 1st, 2019 to December 31st, 2022 were collected and analyzed. Thyroid function was first screened at 7 to 10 days after birth, followed by weekly tests within the first 4 weeks, and retested at 36 weeks of corrected gestational age or before discharge. The VLBWI were assigned to the CH group or non-CH group. Chi-square test, Fisher exact probability method, Wilcoxon rank sum test, univariate and multivariate Logistic regression were used to analyze the relationship between CH and poor prognosis during hospitalization in VLBWI. Results: A total of 5 818 eligible VLBWI were enrolled, with 2 982 (51.3%) males and the gestational age of 30 (29, 31) weeks. The incidence of CH was 5.5% (319 VLBWI). Among the CH group, only 121 VLBWI (37.9%) were diagnosed at the first screening. Univariate Logistic regression analysis showed that CH was associated with increased incidence of extrauterine growth retardation (EUGR) (OR=1.31(1.04-1.64), P<0.05) and retinopathy of prematurity (ROP) of stage Ⅲ and above (OR=1.74(1.11-2.75), P<0.05). However, multivariate Logistic regression analysis showed no significant correlation between CH and EUGR, moderate to severe bronchopulmonary dysplasia, grade Ⅲ to Ⅳ intraventricular hemorrhage, neonatal necrotizing enterocolitis in stage Ⅱ or above, and ROP in stage Ⅲ or above (OR=1.04 (0.81-1.33), 0.79 (0.54-1.15), 1.15 (0.58-2.26), 1.43 (0.81-2.53), 1.12 (0.70-1.80), all P>0.05). Conclusion: There is no significant correlation between CH and in-hospital adverse outcomes, possibly due to timely diagnosis and active replacement therapy.

A novel cytotoxic T lymphocyte epitope analogue with enhanced activity derived from cyclooxygenase-2.

Cyclooxygenase-2 is a promising target for cancer immunotherapy. Here, we designed the analogues p321-9L and p321-1Y9L (YLIGETIKL) from cyclooxygenase-2-derived native peptide p321. Then, we tested the binding affinity and stability of the analogues and their ability to elicit specific immune response both in vitro (from PBMCs of HLA-A*02⁺ healthy donors) and in vivo (from HLA-A2.1/K(b) transgenic mice). Our results indicated that the activity of cytotoxic T lymphocytes induced by p321-9L and p321-1Y9L was more potent than that of p321. In conclusion, the epitope analogue, especially p321-1Y9L, may be a good candidate which could be used to the immunotherapy of patients with tumours expressing cyclooxygenase-2.