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L1 syndrome is a group of X-linked diseases caused by pathogenic variants in the human L1 cell adhesion molecule gene (L1CAM ; OMIM 308840). The L1CAM gene is expressed primarily in the nervous system, where it plays important roles in neuronal development, including the guidance of neurite outgrowth, neuronal cell migration, axon bundling, synaptogenesis, myelination, neuronal cell survival, and long-term potentiation. L1 syndrome comprises a group of overlapping phenotypes including partial agenesis of corpus callosum, congenital X-linked hydrocephalus, and mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome. Molecular analysis was performed in four patients with congenital hydrocephalus (CH) and adducted thumbs. Three pathogenic variants were identified in the L1CAM gene, novel c.539dupA (p.Gln181Alafs*46) common to the two siblings, c.791G > A (p.Cys264Tyr) and c.1453C > T (p.Arg485*) variants. A correlation between genotype and phenotype has been reported in L1-related disorders. Two families with intrafamilial variability are presented and a novel pathogenic variant in the L1CAM gene has been reported. L1 syndrome should be considered primarily in patients with CH and adducted thumbs. [ABSTRACT FROM AUTHOR]

Objective: To investigate the link between pretreatment neutrophil‐to‐lymphocyte ratio(NLR) and the incidence of radiation‐induced trismus(RIT) in parotid gland cancers(PGC) patients after postoperative radiotherapy(PORT). Method: Data of PGC patients who had oral examinations before and after PORT were reviewed retrospectively. We comprised patients who had maximum mouth opening (MMO) assessments before and after PORT and complete blood count test on the first day of PORT. MMO of ≤35 mm was considered as RIT. The receiver operating characteristic (ROC) curve analysis was used to search for an ideal NLR threshold value that might be linked to RIT rates. Results: Fifty‐one patients were included, with a RIT incidence of 15.7%. The NLR cutoff that showed a link with the prevalence of RIT in the ROC curve analysis was 2.7[Area under the curve (AUC):82.0%; sensitivity:87.5%; specificity:74.4%]. The patients were divided into groups based on this value:Group 1: NLR≤2.7 (N = 34) and;NLR >2.7 (N = 17). In comparative analysis, the incidence of RIT was found to be statistically higher in the NLR >2.7 than counterpart (35.2%vs.5.8%;rs:0.79; p <.001). Also, a mean temporomandibular joint dose ≥51.0Gy was linked to increased RIT rates (p <.001). Conclusion: This study showed that high pre‐PORT NLR levels were a robust and independent predictor of significantly elevated rates of RIT. [ABSTRACT FROM AUTHOR]

Objective: The significance of pre‐hemoglobin‐to‐platelet ratio (HPR) in predicting the occurrence of radiation‐induced trismus (RIT) in locally advanced nasopharyngeal carcinoma patients (LA‐NPC) who received concurrent chemoradiotherapy (C‐CRT). Methods: The records of LA‐NPC patients with oral examination before and after C‐CRT were analyzed. Maximum mouth openings (MMO) were measured before and after C‐CRT to confirm RIT status, with an MMO of ≤35 mm defined as RIT. HPR values were calculated on the first day of C‐CRT. The relationship between the HPR values and RIT status was discovered using the receiver operating characteristic curve analysis. Results: A total of 43 patients RIT cases among 198 individuals were diagnosed. The optimal HPR cutoff that stratified the patients into two groups was 0.54. RIT incidence was found to be significantly higher in the HPR ≤0.54 group than its HPR >0.54 counterpart(p < 0.001). Univariately T3‐4 stage, mean masticator apparatus dose>57.2Gy, and pre‐C‐CRT MMO ≤40.7 mm were found as the other significant correlates of increased RIT rates(p < 0.05). All four variables seemed to be independently connected to greater RIT incidence in multivariate analysis (p < 0.05, for each). Conclusion: The risk of post‐C‐CRT RIT may be significantly increased when pre‐treatment HPR levels are low. [ABSTRACT FROM AUTHOR]