BACKGROUND: In this prospective cohort study, we determined the phenotypic characteristics of children with regressive autism spectrum disorder (ASD) and explored the effects of rehabilitation.
METHODS: We recruited 370 children with ASD aged 1.5-7 years. Based on the Regression Supplement Form, the children were assigned to two groups: regressive and non-regressive. The core symptoms and neurodevelopmental levels of ASD were assessed before and after 1 year of behavioral intervention using the Autism Diagnostic Observation Schedule (ADOS), Social Response Scale (SRS), Children Autism Rating Scale (CARS), and Gesell Developmental Scale (GDS).
RESULTS: Among the 370 children with ASD, 28.38% (105/370) experienced regression. Regression was primarily observed in social communication and language skills. Children with regressive ASD exhibited higher SRS and CARS scores and lower GDS scores than those with non-regressive ASD. After 1 year of behavioral intervention, the symptom scale scores significantly decreased for all children with ASD; however, a lesser degree of improvement was observed in children with regressive ASD than in those with non-regressive ASD. In addition, the symptom scores of children with regressive ASD below 4 years old significantly decreased, whereas the scores of those over 4 years old did not significantly improve. Children with regressive ASD showed higher core symptom scores and lower neurodevelopmental levels. Nevertheless, after behavioral intervention, some symptoms exhibited significant improvements in children with regressive ASD under 4 years of age.
CONCLUSIONS: Early intervention should be considered for children with ASD, particularly for those with regressive ASD.

Phenotypic analysis has significant potential for aiding breeding efforts. However, there is a notable lack of studies utilizing phenotypic analysis in the field of edible fungi. Pleurotus geesteranus is a lucrative edible fungus with significant market demand and substantial industrial output, and early-stage phenotypic analysis of Pleurotus geesteranus is imperative during its breeding process. This study utilizes image recognition technology to investigate the phenotypic features of the mycelium of P. geesteranus. We aim to establish the relations between these phenotypic characteristics and mycelial quality. Four groups of mycelia, namely, the non-degraded and degraded mycelium and the 5th and 14th subcultures, are used as image sources. Two categories of phenotypic metrics, outline and texture, are quantitatively calculated and analyzed. In the outline features of the mycelium, five indexes, namely, mycelial perimeter, radius, area, growth rate, and change speed, are proposed to demonstrate mycelial growth. In the texture features of the mycelium, five indexes, namely, mycelial coverage, roundness, groove depth, density, and density change, are studied to analyze the phenotypic characteristics of the mycelium. Moreover, we also compared the cellulase and laccase activities of the mycelium and found that cellulase level was consistent with the phenotypic indices of the mycelium, which further verified the accuracy of digital image processing technology in analyzing the phenotypic characteristics of the mycelium. The results indicate that there are significant differences in these 10 phenotypic characteristic indices ( P < 0.001 ), elucidating a close relationship between phenotypic characteristics and mycelial quality. This conclusion facilitates rapid and accurate strain selection in the early breeding stage of P. geesteranus.

OBJECTIVE: This study aimed to analyze the clinical and genetic characteristics of 6 Chinese patients with foveal hypoplasia (FH) caused by the variants of solute carrier family 38 member 8 (SLC38A8), and to describe the genotype and phenotype of SLC38A8 variants from previous literature.
METHODS: All subjects underwent comprehensive ophthalmic examinations. Optical coherence tomography (OCT) was performed to evaluate the structural grade of FH. Pathogenic variants of SLC38A8 gene were identified using panel-based next-generation sequencing and direct Sanger sequencing techniques. Further, all previously reported cases of SLC38A8 variants were re-analyzed together with the novel ones identified in this study.
RESULTS: Nystagmus and FH were present in 6 patients with variants of SLC38A8 gene, accompanied by a normal anterior segment. Grade 4 FH was identified in 4 patients. A total of 12 variants of SLC38A8 gene were identified, including 9 novel variants. Systematical analysis revealed that half of the variants (30/60) were missense, the majority of which (23/30) were distributed in the transmembrane (TM) domains. Grade 4 FH was detected in the majority of patients (66%, 23/35). There was no statistical difference in the clinical features between the subgroups of patients with 0, 1 and 2 missense variants.
CONCLUSIONS: Severe arrest of foveal development was identified in patients with variants of SLC38A8. This study provides a brief summary of the clinical and genetic characteristics of the pathogenic SLC38A8 variants, which is helpful in the differentiation diagnosis of FH.

The gastrointestinal tract contains a complex microbial community. Peyer\'s patches (PPs) play an important role in inducing mucosal immune responses in the gastrointestinal tract. However, little is known about the effect of commensal microbiota on the host\'s PPs. Here, we analyzed the phenotypic-to-transcriptome changes in the intestine PPs of specific pathogen-free (SPF) and germ-free (GF) piglets (fed in an environment with and without commensal microbiota, respectively) to elucidate the role of commensal microbiota in host intestine mucosal immunity. Analyses of anatomical and histological characteristics showed that commensal microbiota deficiency led to PP hypoplasia, especially regarding B and T cells. A total of 12,444 mRNAs were expressed in 12 libraries; 2,156 and 425 differentially expressed (DE) mRNAs were detected in the jejunal PP (JPP) and ileal PP (IPP), respectively (SPF vs. GF). The shared DE mRNAs of the JPP and IPP were mainly involved in basic physiological and metabolic processes, while the specific DE mRNAs were enriched in regulating immune cells in the JPP and microbial responses and cellular immunity in the IPP. Commensal microbiota significantly modulated the expression of genes related to B-cell functions, including activation, proliferation, differentiation, apoptosis, receptor signaling, germinal center formation, and IgA isotype class switching, particularly in the JPP. TLR4 pathway-related genes were induced in response to microbial colonization and in LPS/SCFA-treated B cells. We also detected 69 and 21 DE lncRNAs in the JPP and IPP, respectively, and four one-to-one lncRNA-mRNA pairs were identified. These findings might represent key regulatory axes for host intestine mucosal immunity development during microbial colonization. Overall, the findings of this study revealed that commensal microbiota modulated phenotypic characteristics and gene expression in the piglet intestine PPs and underscored the importance of early microbial colonization for host mucosal immunity development.

OBJECTIVE: 16p13.11 microdeletion/microduplication are rare genetic diseases with incomplete penetrance, most of which have been reported in adults and children, with ultrasound phenotyping in fetuses rarely described. Here, we have analyzed prenatal ultrasound phenotypic characteristics associated with 16p13.11 microdeletion/microduplication, in order to improve the understanding, diagnosis and monitoring of this disease in the fetus.
METHODS: A total of 9000 pregnant women who underwent invasive prenatal diagnosis for karyotyping and SNP-array were retrospectively analyzed in tertiary referral institutions from October 2016 to January 2022.
RESULTS: SNP-array revealed that 20 fetuses had copy number variation (CNV) in the 16p13.11 region, out of which 5 had 16p13.11 microdeletion and the rest showed microduplication, along with different ultrasound phenotypes. Furthermore, 4/20 cases demonstrated structural abnormalities, while the remaining 16 cases were atypical in ultrasound. Taken together, 16p13.1 microdeletion was closely related to thickened nuchal translucency, while 16p13.11 microduplication was more closely associated with echogenic bowel. Only 5/15 fetuses were verified by pedigree, with one case of 16p13.11 microdeletion being de novo, and the other cases of 16p13.11 microduplication were inherited from one parent. In 4/20 cases, the pregnancy was terminated. Except for one case with short stature and another one who underwent lung cystadenoma surgery, no abnormalities were reported in the other cases during follow-up.
CONCLUSIONS: Fetuses with 16p13.11 microdeletion/microduplication had no characteristic phenotype of intrauterine ultrasound and was in good health after birth, thus providing a reference for the perinatal management of such cases.

With the improvement of large-scale breeding in pig farms, conventional head-by-head immunization has disadvantages with low efficiency and high cost. Considering that most pathogens leading to pulmonary diseases circulate from the respiratory mucosa, immunization through the respiratory tract route has been a highly attractive vaccine delivery strategy. In this study, to develop an effective Mycoplasma hyopneumoniae (Mhp) aerosol vaccine, a customized ultrasonic atomizer was developed. The aerodynamic diameter, activity, and content of the Mhp aerosol vaccine were measured. In addition, piglets were immunized with the Mhp aerosol vaccine, and the immunity of the animal challenge protection test was evaluated. At the end of nebulization, the mass median aerodynamic diameters (MMAD) and geometric standard deviation (GSD) of the aerosol were 2.98 ± 0.02 μm and 1.51 ± 0.02, respectively. Moreover, 10 min after nebulization, the MMAD and GSD of the aerosol were 2.76 ± 0.02 μm and 1.51 ± 0.01, respectively, which were hardly changed. Compared with theoretical value, the actual titer of aerosol vaccines presented in 50% color changing unit (CCU50) after nebulization decreased 0.6. The shape, size, and uniformity of collected aerosols are relatively stable. The proportion of Mhp in aerosol produced by vaccine stock solution and 10 times diluted vaccine solution was 76.52% and 58.82%, respectively, and the average number of Mhp in a single aerosol was 3.06 and 1.51, respectively. In addition, the aerosol vaccine antigen particles could be transported to the lower respiratory tract, a local mucosal immune response was induced in piglets. The vaccine colonized the respiratory tract and significantly decline the lung lesion index after aerosol vaccination. In conclusion, an effective aerosol vaccine against Mhp infection was developed. And this is the first effective assessment for Mhp live vaccine with aerosolization against infection in piglets.

BACKGROUND: High-quality tea requires leaves of similar size and tenderness. The grade of the fresh leaves determines the quality of the tea. The automated classification of fresh tea leaves improves resource utilization and reduces manual picking costs. The present study proposes a method based on an improved genetic algorithm for identifying fresh tea leaves in high-speed parabolic motion using the phenotypic characteristics of the leaves. During parabolic flight, light is transmitted through the tea leaves, and six types of fresh tea leaves can be quickly identified by a camera.
RESULTS: The influence of combinations of morphology, color, and custom corner-point morphological features on the classification results were investigated, and the necessary dimensionality of the model was tested. After feature selection and combination, the classification performance of the Naive Bayes, k-nearest neighbor, and support vector machine algorithms were compared. The recognition time of Naive Bayes was the shortest, whereas the accuracy of support vector machine had the best classification accuracy at approximately 97%. The support vector machine algorithm with only three feature dimensions (equivalent diameter, circularity, and skeleton endpoints) can meet production requirements with an accuracy rate reaching 92.5%. The proposed algorithm was tested by using the Swedish leaf and Flavia data sets, on which it achieved accuracies of 99.57% and 99.44%, respectively, demonstrating the flexibility and efficiency of the recognition scheme detailed in the present study.
CONCLUSIONS: This research provides an efficient tea leaves recognition system that can be applied to production lines to reduce manual picking costs. © 2022 Society of Chemical Industry.

Skeletal deformity is characterized by an abnormal anatomical structure of bone and cartilage. In our previous studies, we have found that a substantial proportion of patients with skeletal deformity could be explained by monogenic disorders. More recently, complex phenotypes caused by more than one genetic defect (i.e., dual molecular diagnosis) have also been reported in skeletal deformities and may complicate the diagnostic odyssey of patients. In this study, we report the molecular and phenotypic characteristics of patients with dual molecular diagnosis and variable skeletal deformities.
From 1108 patients who underwent exome sequencing, we identified eight probands with dual molecular diagnosis and variable skeletal deformities. All eight patients had dual diagnosis consisting of two autosomal dominant diseases. A total of 16 variants in 12 genes were identified, 5 of which were of de novo origin. Patients with dual molecular diagnosis presented blended phenotypes of two genetic diseases. Mendelian disorders occurred more than once include Osteogenesis Imperfecta Type I (COL1A1, MIM:166200), Neurofibromatosis, Type I (NF1, MIM:162200) and Marfan Syndrome (FBN1, MIM:154700).
This study demonstrated the complicated skeletal phenotypes associated with dual molecular diagnosis. Exome sequencing represents a powerful tool to detect such complex conditions.

Mutations in proline-rich transmembrane protein 2 (PRRT2) are the major cause of paroxysmal kinesigenic dyskinesia (PKD). We recently reported transmembrane protein 151A (TMEM151A) mutations caused PKD. Herein, we aimed to conduct phenotypic comparisons of patients with PKD carrying PRRT2 variants, carrying TMEM151A variants, and carrying neither the PRRT2 nor TMEM151A variant.
Sanger sequencing of PRRT2 and TMEM151A was performed, and phenotypic characteristics were analyzed.
In a cohort of 131 PKD probands (108 without PRRT2 variants and 23 newly recruited), five novel TMEM151A variants were identified and one (c.647C > A) occurred de novo. Together with our previous studies, PRRT2 and TMEM151A variants accounted for 34.7% (85/245) and 6.9% (17/245) of PKD probands, respectively. Compared with patients carrying PRRT2 variants, those with TMEM151A variants tended to exbibit dystonia with shorter durations, have no history of benign infantile epilepsy, and have residual attacks/aura when treated with carbamazepine/oxcarbazepine.
Patients with TMEM151A variants have different features from patients with PRRT2 variants. © 2022 International Parkinson and Movement Disorder Society.

Bacterial soft rot is an important disease of Chinese cabbage (Brassica rapa L. ssp. pekinensis) in China and many other countries. Four pectinolytic bacterial strains (WBC1, WBC6, WBC9, and WBC11) were isolated from soft-rotted Chinese cabbage in Beijing, China. Based on 16S rDNA and pmrA gene sequence analyses, multilocus sequence analysis (MLSA), and genomic average nucleotide identity (ANI) analysis, these four strains were identified as Pectobacterium polaris. This species, previously reported from potato in countries not including China, is a new soft rot pathogen of Chinese cabbage in China. Biochemical characteristics of these P. polaris strains tested by Biolog were mostly consistent with those of P. polaris NIBIO1006T. Their pathogenicity on Chinese cabbage is temperature dependent, with all four strains as well as the type strain exhibiting high pathogenicity at 23°C and 28°C. These four strains infected Lactuca sativa, Daucus carota, Solanum tuberosum, and Capsicum annuum by artificial inoculation. Specific polymerase chain reaction (PCR) and quantitative PCR (qPCR) primers for P. polaris were developed on the basis of its specific gene sequences (determined by genome comparison methods). Both PCR and qPCR detected not only genomic DNA of P. polaris but also the pathogen from diseased plant tissues even before external symptoms appeared. Their detection sensitivities were as low as 1 pg and 100 pg genomic DNA of P. polaris, respectively. To our knowledge, this study is the first to both report the emergence of P. polaris on Chinese cabbage in China and provide rapid and accurate PCR/qPCR-based detection systems specific for P. polaris.