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Background: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder that affects individuals across their lifespan. Early diagnosis and intervention are crucial for improving outcomes. However, current diagnostic methods are often time-consuming, and costly, making them inaccessible to many families. In the current study, we aim to test caregiver-child interaction as a potential tool for screening children with ASD in clinic. Methods: We enrolled 85 preschool children (Mean age: 4.90 ± 0.65 years, 70.6% male), including ASD children with or without developmental delay (DD), and typical development (TD) children, along with their caregivers. ASD core symptoms were evaluated by Childhood Autism Rating Scale (CARS) and Autism Diagnostic Observation Schedule-Calibrated Severity Scores (ADOS-CSS). Behavioral indicators were derived from video encoding of caregiver-child interaction, including social involvement of children (SIC), interaction time (IT), response of children to social cues (RSC), time for caregiver initiated social interactions (GIS) and time for children initiated social interactions (CIS)). Power spectral density (PSD) values were calculated by EEG signals simultaneously recorded. Partial Pearson correlation analysis was used in both ASD groups to investigate the correlation among behavioral indicators scores and ASD symptom severity and PSD values. Receiver operating characteristic (ROC) analysis was used to describe the discrimination accuracy of behavioral indicators. Results: Compared to TD group, both ASD groups demonstrated significant lower scores of SIC, IT, RSC, CIS (all p values < 0.05), and significant higher time for GIS (all p values < 0.01). SIC scores negatively correlated with CARS (p = 0.006) and ADOS-CSS (p = 0.023) in the ASD with DD group. Compared to TD group, PSD values elevated in ASD groups (all p values < 0.05), and was associated with SIC (theta band: p = 0.005; alpha band: p = 0.003) but not IQ levels. SIC was effective in identifying both ASD groups (sensitivity/specificity: ASD children with DD, 76.5%/66.7%; ASD children without DD, 82.6%/82.2%). Conclusion: Our results verified the behavioral paradigm of caregiver-child interaction as an efficient tool for early ASD screening. [ABSTRACT FROM AUTHOR]

Background: The orthopedic treatment of the stiff clubfoot is challenging for clinicians, and the purpose of this study was to explore the preliminary findings of 3D printing-assisted patient-specific instrument (PSI) osteotomy guide for use in the orthopedic treatment of the stiff clubfoot. Material and methods: There were 20 patients (25 feet) with stiff clubfoot admitted from December 2018 to June 2022, including 13 males (16 feet) and 7 females (9 feet), aged 24–52 years, mean 40.15 years; 8 left feet, 7 right feet, 5 bipedal. All patients underwent triple arthrodesis and were divided into 10 cases (12 feet) in the PSI group (n = 12) and 10 cases (13 feet) in the conventional surgery group (n = 13) according to the surgical approach. The duration of surgery and the number of radiation exposures were recorded in all cases, and the American Orthopedic Foot and Ankle Society (AOFAS), and International Congenital Clubfoot Study Group (ICFSG) scoring systems were applied postoperatively to assess the effect of corrective treatment. All measurement data were expressed as mean ± standard deviation, and differences between groups were determined by Student's t test. All count data between the two groups were compared using the chi-square test or Fisher's exact test analysis. Results: All 20 patients (25 feet) were followed up for 1 year. No major complications related to osteotomy, such as overcorrection, incomplete correction, or bone nonunion, were observed in the PSI and conventional surgery groups at the final follow-up, and the PSI group had the advantage of shorter operative time (P < 0.01), less radiation exposure (P < 0.01), and higher excellent rate compared with the conventional surgery group. The AOFAS score (P > 0.05) and ICFSG score (P > 0.05) at the last follow-up were not statistically significant in both groups, but the excellent rate at the last follow-up was 91.7% in the PSI group which was significantly higher than that of the conventional surgery group at 76.9%. Conclusions: The utilization of 3D printing-assisted PSI osteotomy guide in orthopedic surgery for stiff clubfoot offers a safe and effective surgical tool for triple joint fusion treatment. This technology simplifies surgical procedures, minimizes intraoperative radiation exposures, reduces surgical time, and enables precise and personalized treatment. [ABSTRACT FROM AUTHOR]

Background: Attention-deficit/hyperactivity disorder (ADHD) is a clinically heterogeneous neurodevelopmental disorder defined by characteristic behavioral and cognitive features. Abnormal brain dynamic functional connectivity (dFC) has been associated with the disorder. The full spectrum of ADHD-related variation of brain dynamics and its association with behavioral and cognitive features remain to be established. Methods: We sought to identify patterns of brain dynamics linked to specific behavioral and cognitive dimensions using sparse canonical correlation analysis across a cohort of children with and without ADHD (122 children in total, 63 with ADHD). Then, using mediation analysis, we tested the hypothesis that cognitive deficits mediate the relationship between brain dynamics and ADHD-associated behaviors. Results: We identified four distinct patterns of dFC, each corresponding to a specific dimension of behavioral or cognitive function (r = 0.811–0.879). Specifically, the inattention/hyperactivity dimension was positively associated with dFC within the default mode network (DMN) and negatively associated with dFC between DMN and the sensorimotor network (SMN); the somatization dimension was positively associated with dFC within DMN and SMN; the inhibition and flexibility dimension and fluency and memory dimensions were both positively associated with dFC within DMN and between DMN and SMN, and negatively associated with dFC between DMN and the fronto-parietal network. Furthermore, we observed that cognitive functions of inhibition and flexibility mediated the relationship between brain dynamics and behavioral manifestations of inattention and hyperactivity. Conclusions: These findings document the importance of distinct patterns of dynamic functional brain activity for different cardinal behavioral and cognitive features related to ADHD. [ABSTRACT FROM AUTHOR]

Introduction: Acute myeloid leukemia (AML) patients with CEBPA double mutation (CEBPAdm) were associated with distinct immunophenotypes and prognosis. Recently, both International Consensus Classification (ICC) and World Health Organization (WHO) classifications incorporated BZIP single mutations (CEBPAsmBZIP) into the favorable risk group. However, the immunophenotypes of CEBPAsmBZIP mutations have not been characterized, especially when compared with the immunophenotypes of CEBPAdm. Methods: Retrospectively, we investigated and compared the immunophenotypes of AML with CEBPA mutations. Randomforest model and XGBoost algorithm were used to set up a scoring system based on the immunophenotypes of those patients. Results: In a total of 967 AML patients: 218 were CEBPAdm (198 consisted of mutations in the BZIP region [CEBPAdmBZIP], 20 were double mutations outside BZIP region [CEBPAdm‐woBZIP]), 117 were CEBPAsm (54 CEBPAsmBZIP and 63 were single mutations outside BZIP region [CEBPAsm‐woBZIP]) and the others were wildtype CEBPA (CEBPAwt). Patients with CEBPAdmBZIP, CEBPAdm‐woBZIP and CEBPAsmBZIP shared the distinct immunophenotype of CD7+ CD34+ MPO+ HLA‐DR+ CD19−, in contrast to patients with CEBPAsm‐woBZIP and CEBPAwt who showed reduced expression of CD7, HLA‐DR, MPO, CD34 and a higher expression of CD19. Based on these immunophenotypes, we developed a scoring system to preemptively identify AML with CEBPAsmBZIP and CEBPAdm and validated it internally and externally. Conclusions: AML with CEBPAdmBZIP, CEBPAdm‐woBZIP, and CEBPAsmBZIP shared similar immunophenotypic profiles, whereas profoundly differed from the CEBPAsm‐woBZIP and CEBPAwt AML. [ABSTRACT FROM AUTHOR]

Objective: The objective of this study was to quantitatively evaluate the efficacy of stabilization splint (SS) therapy or arthrocentesis plus hyaluronic acid (HA) injection in the treatment of anterior disc displacement (ADD) through magnetic resonance imaging (MRI). Methods: 99 subjects were collected in this study. 46 subjects received SS treatment (SS group), 53 subjects received arthrocentesis plus HA injection (HA group). Joints with anterior disc displacement with reduction (ADDwR) and anterior disc displacement without reduction (ADDwoR) were compared separately. MRI before the beginning of the treatment and after a set of treatment were used for measurement. Disc–condyle relationship and positions of condyles and discs were determined by disc–condyle angles and X–Y coordinates. Results: The disc–condyle angles decreased significantly in the SS group (P <.0001). Whereas no significant change was found in the HA group. Substantial anteroinferior condyle movement was detected in the SS group, slight anterior movement of condyles was discovered in the HA group. Anterior shift of discs position was observed in HA group and joints with ADDwoR in the SS group. Conclusions: SS was effective in improving the disc–condyle relationship in ADD subjects, while significant improvement of disc–condyle relationship cannot be achieved through arthrocentesis plus HA injection. [ABSTRACT FROM AUTHOR]

Background: The preoperative work-up has limitations on finding peritoneal dissemination (PD) in gastric cancer patients. Laparoscopic exploration (LE) can discover radiographically occult PD, obtain accurate stage and avert futile laparotomy. The aim of our study was to introduce "Four-Step Procedure" LE in West China Hospital and further evaluate its safety and feasibility.Methods: We conducted a retrospective analysis on 165 patients from July 2016 to December 2017 who underwent "Four-Step Procedure" LE in gastrointestinal surgery department of West China Hospital. All the patients were diagnosed with gastric adenocarcinoma without explicit distant metastasis through Computed Tomography and/or Gastrointestinal Ultrasonography. Peritoneal lavage cytological examination (CY) was routinely performed during LE in our research. The "Four-Step" technical process of LE was introduced comprehensively. The clinicopathologic features and the presence of PD or CY at LE were analyzed, and the stratified analysis by cT and cN stages on the proportion of P1 and/or CY1 was also reported in this study.Results: Total of 165 patients accepted LE in our study, among these patients: 27 (16.4%) patients with P1 and/or CY1: 19 (11.5%) patients were found PD (P1), 17 (10.3%) patients with positive cytological examination (CY1) and 9 (3.6%) patients with P1Cy1. The stratified analysis by cT stage indicated that there was no P1 and/or Cy1 in cT1-cT2 stages, 1 (2.7%) patient with P1 and 1 (2.7%) with Cy1 in cT3 stage, 18 (20.0%) patients with P1 and 16 (17.8%) with Cy1 in cT4 stage. After LE, there were 74 (44.8%) patients underwent laparoscopic assistant gastrectomy, 25 (15.2%) patients with open gastrectomy, 50 (30.3%) patients with neoadjuvant chemotherapy and 16 (9.7%) patients with palliative chemotherapy and/or conversion therapy.Conclusion: "Four-Step Procedure" LE is reliable and feasible for gastric cancer. From our study, LE has unique superiority on ascertaining PD and cytological examination and LE should be recommended in cT4 stage gastric cancer before resection. [ABSTRACT FROM AUTHOR]

Background: Staging laparoscopy(SL) is a recommended technique for the staging of Gastric Cancer(GC) and provides the indication for a radical surgery. Considering the medical practice in China, the standardized and regular usage of SL is yet to be spread. However, existing guidelines vary and make an ambiguity of indication for SL. Besides, the specific indication for Chinese patients remains a niche. This study aims to the essential, missing information of Chinese patients and tries to normalize the indication of LS in medical practice in China.Methods: The study is a prospective, multicenter cohort study being conducted in China with a total of 450 patients, all diagnosed with locally advanced gastric cancer (cT2-4 N0-3 M0, no evidence of intra-abdominal dissemination) through Computed Tomography(CT) and/or Endoscopic Ultrasonography(EUS). Peritoneal lavage is regularly performed during the SL. Multivariate Cox regression model and receiver-operator characteristic(ROC) analysis will be used to analyze the significant risk factors of intra-abdominal metastasis(including peritoneal dissemination and a positive cytological result).Discussion: This confirmatory study will provide us with the specific positive rate of intraabdominal metastasis of GC in China, compared with empirical evidence of 20%. We expect this trial will contribute to our discovery of the specific risk factors of intra-abdominal metastasis of Chinese patients and to the stimulating and performing of minimally invasive surgical procedures.Trial Registration: ClinicalTrials.gov : registration number NCT02172690 . [ABSTRACT FROM AUTHOR]

Background: Phelan-McDermid syndrome (PMS) or 22q13 deletion syndrome is a rare developmental disorder characterized by hypotonia, developmental delay (DD), intellectual disability (ID), autism spectrum disorder (ASD) and dysmorphic features. Most cases are caused by 22q13 deletions encompassing many genes including SHANK3. Phenotype comparisons between patients with SHANK3 mutations (or deletions only disrupt SHANK3) and 22q13 deletions encompassing more than SHANK3 gene are lacking.Methods: A total of 29 Mainland China patients were clinically and genetically evaluated. Data were obtained from medical record review and a standardized medical history questionnaire, and dysmorphology evaluation was conducted via photographic evaluation. We analyzed 22q13 deletions and SHANK3 small mutations and performed genotype-phenotype analysis to determine whether neurological features and other important clinical features are responsible for haploinsufficiency of SHANK3.Results: Nineteen patients with 22q13.3 deletions ranging in size from 34 kb to 8.7 Mb, one patient with terminal deletions and duplications, and nine patients with SHANK3 mutations were included. All mutations would cause loss-of function effect and six novel heterozygous variants, c.3838_3839insGG, c.3088delC, c.3526G > T, c.3372dupC, c.3120delC and c.3942delC, were firstly reported. Besides, we demonstrated speech delay (100%), DD/ID (88%), ASD (80%), hypotonia (83%) and hyperactivity (83%) were prominent clinical features. Finally, 100% of cases with monogenic SHANK3 deletion had hypotonia and there was no significant difference between loss of SHANK3 alone and deletions encompassing more than SHANK3 gene in the prevalence of hypotonia, DD/ID, ASD, increased pain tolerance, gait abnormalities, impulsiveness, repetitive behaviors, regression and nonstop crying which were high in loss of SHANK3 alone group.Conclusions: This is the first work describing a cohort of Mainland China patients broaden the clinical and molecular spectrum of PMS. Our findings support the effect of 22q13 deletions and SHANK3 point mutations on language impairment and several clinical manifestations, such as DD/ID. We also demonstrated SHANK3 haploinsufficiency was a major contributor to the neurological phenotypes of PMS and also responsible for other important phenotypes such as hypotonia, increased pain tolerance, impulsiveness, repetitive behaviors, regression and nonstop crying. [ABSTRACT FROM AUTHOR]