Objective:To investigate the clinical, cytopathological characteristics, and differential diagnosis of metastatic clear cell renal cell carcinomas (CCRCC).Methods:Nine cases of metastatic CCRCC cytologically diagnosed in the Department of Pathology, the First Affiliated Hospital of Air Force Medical University from July 2021 to December 2024 were collected. The HE staining, May-Grunewald-Giemsa staining, liquid-based slides, cell block preparation, and immunocytochemistry of EnVision two-step staining were performed. The clinical and cytopathological features, treatments and follow-up data were analyzed in combination with literature review.Results:Among the 9 cases of metastatic CCRCC, there were 7 males and 2 females. The age range was 43-78 years, and the average age was 63.6 (57.5, 72.5) years. The metastatic sites were lymph node in 3 cases (2 cases of mediastinal lymph nodes and 1 case of left cervical lymph node), bone in 3 cases (pubis, thoracic vertebrae and femur, respectively), thyroid in 2 cases, and adrenal gland, lung and pancreas in 1 case, respectively. Two of the 9 cases had two metastatic sites (case 8 had metastases of lung and mediastinal lymph nodes; case 9 had metastases of thyroid and cervical lymph nodes). The median time from the diagnosis to metastasis was 9.4 years (range 1.1 to 13.8 years). The tumor cells were arranged in papillary, acinar, sheet, cluster or single scattered pattern. Most cases had uniform nuclei with mild atypia and inconspicuous nucleoli, while some cases had variable nuclei with prominent nucleoli. The cytoplasm of the tumor cells was abundant. Some cases showed clear cytoplasm with small vacuoles, while some of them showed eosinophilic and granular cytoplasm. Immunocytochemically, the tumor cells were positive for CKpan(AE1/AE3,6/6), PAX8 (9/9), CAⅨ (9/9), CD10 (9/9), and vimiten (8/8). Patients were treated primarily with targeted therapy and/or immunotherapy and curettage and radiation therapy for bone lesions. The follow-up time ranged from 1.0 month to 41.5 months (median, 20 months), and all patients survived at the end of follow-up.Conclusions:The cytology of metastatic CCRCC often shows uniform cell size, abundant and clear cytoplasm, low nuclear/cytoplasmic ratio, and mild nuclear atypia. Its cytological diagnosis is challenging because it occurs in various sites and needs to be differentiated from primary tumors of these sites. Emphasis should be placed on the morphological recognition of CCRCC, and immunocytochemical staining should be used to improve diagnosis. When necessary, molecular testing can be employed for diagnosis. Meanwhile, the medical history should be carefully inquired by pathologists to avoid missed diagnosis and misdiagnosis.

Autism spectrum disorder(ASD) is a neurodevelopmental disorder, and social impairment was one of the core symptoms of ASD, which can seriously affects the social life of patients.The pathogenesis of social impairment in ASD is unclear and it may involves many brain abnormalities.The related theories and hypotheses are numerous and there is no unified conclusion. Studies have shown that the cerebellum has extensive connections with brain networks and is involved in the regulation of social cognition, but its role in ASD has not been fully emphasized.The structural and functional abnormalities of the cerebellar-cortex (CC) loop in ASD patients can lead to language communication disorders, empathy disorders, difficulties in interpreting social cues, abnormal social reward processing and emotional regulation disorders, which are closely related to ASD social impairment. Noninvasive brain stimulation of the superficial cerebellum can improve the abnormal CC circuit in ASD patients, and the cerebellum can be considered as a target for the treatment of social disorders in ASD in the future.Based on the clinical and basic researches on social impairment in ASD in recent years, this article reviews the relevant manifestations of disorders which cerebellar and CC circuit involved, aiming to promote the development of related research in the future.

Autism spectrum disorder(ASD) is a neurodevelopmental disorder, and social impairment was one of the core symptoms of ASD, which can seriously affects the social life of patients.The pathogenesis of social impairment in ASD is unclear and it may involves many brain abnormalities.The related theories and hypotheses are numerous and there is no unified conclusion. Studies have shown that the cerebellum has extensive connections with brain networks and is involved in the regulation of social cognition, but its role in ASD has not been fully emphasized.The structural and functional abnormalities of the cerebellar-cortex (CC) loop in ASD patients can lead to language communication disorders, empathy disorders, difficulties in interpreting social cues, abnormal social reward processing and emotional regulation disorders, which are closely related to ASD social impairment. Noninvasive brain stimulation of the superficial cerebellum can improve the abnormal CC circuit in ASD patients, and the cerebellum can be considered as a target for the treatment of social disorders in ASD in the future.Based on the clinical and basic researches on social impairment in ASD in recent years, this article reviews the relevant manifestations of disorders which cerebellar and CC circuit involved, aiming to promote the development of related research in the future.

As the incidence of autism rises annually,its unknown pathogenesis makes it challenging to treat the varied repetitive and stereotyped behaviors that characterize its core symptoms.The striatum is an important brain region for the control of locomotor behaviors,featuring a unique mosaic structure,complex neural origin,and finely regulated developmental process that is highly susceptible to genetic and environmental influences.Both clinical and basic studies have indicated that abnormal development of the striatal nuclei may contribute to the pathogenesis of these repetitive stereotyped behaviors in autism.Clinical imaging data have primarily identified gross anatomical variations in the stratum(e.g.,its general outline),but lack the resolution necessary to detect the cellular and subcellular alterations within the region.By introducing the abnormalities in the spatiotemporal development of the striatum and their links to the characteristic behaviors of autism,this review aims to advance our understanding of the role of the striatum in autism pathogenesis and to inform future animal studies and clinical research.

As the incidence of autism rises annually,its unknown pathogenesis makes it challenging to treat the varied repetitive and stereotyped behaviors that characterize its core symptoms.The striatum is an important brain region for the control of locomotor behaviors,featuring a unique mosaic structure,complex neural origin,and finely regulated developmental process that is highly susceptible to genetic and environmental influences.Both clinical and basic studies have indicated that abnormal development of the striatal nuclei may contribute to the pathogenesis of these repetitive stereotyped behaviors in autism.Clinical imaging data have primarily identified gross anatomical variations in the stratum(e.g.,its general outline),but lack the resolution necessary to detect the cellular and subcellular alterations within the region.By introducing the abnormalities in the spatiotemporal development of the striatum and their links to the characteristic behaviors of autism,this review aims to advance our understanding of the role of the striatum in autism pathogenesis and to inform future animal studies and clinical research.

Objective:To investigate the clinical, cytopathological characteristics, and differential diagnosis of metastatic clear cell renal cell carcinomas (CCRCC).Methods:Nine cases of metastatic CCRCC cytologically diagnosed in the Department of Pathology, the First Affiliated Hospital of Air Force Medical University from July 2021 to December 2024 were collected. The HE staining, May-Grunewald-Giemsa staining, liquid-based slides, cell block preparation, and immunocytochemistry of EnVision two-step staining were performed. The clinical and cytopathological features, treatments and follow-up data were analyzed in combination with literature review.Results:Among the 9 cases of metastatic CCRCC, there were 7 males and 2 females. The age range was 43-78 years, and the average age was 63.6 (57.5, 72.5) years. The metastatic sites were lymph node in 3 cases (2 cases of mediastinal lymph nodes and 1 case of left cervical lymph node), bone in 3 cases (pubis, thoracic vertebrae and femur, respectively), thyroid in 2 cases, and adrenal gland, lung and pancreas in 1 case, respectively. Two of the 9 cases had two metastatic sites (case 8 had metastases of lung and mediastinal lymph nodes; case 9 had metastases of thyroid and cervical lymph nodes). The median time from the diagnosis to metastasis was 9.4 years (range 1.1 to 13.8 years). The tumor cells were arranged in papillary, acinar, sheet, cluster or single scattered pattern. Most cases had uniform nuclei with mild atypia and inconspicuous nucleoli, while some cases had variable nuclei with prominent nucleoli. The cytoplasm of the tumor cells was abundant. Some cases showed clear cytoplasm with small vacuoles, while some of them showed eosinophilic and granular cytoplasm. Immunocytochemically, the tumor cells were positive for CKpan(AE1/AE3,6/6), PAX8 (9/9), CAⅨ (9/9), CD10 (9/9), and vimiten (8/8). Patients were treated primarily with targeted therapy and/or immunotherapy and curettage and radiation therapy for bone lesions. The follow-up time ranged from 1.0 month to 41.5 months (median, 20 months), and all patients survived at the end of follow-up.Conclusions:The cytology of metastatic CCRCC often shows uniform cell size, abundant and clear cytoplasm, low nuclear/cytoplasmic ratio, and mild nuclear atypia. Its cytological diagnosis is challenging because it occurs in various sites and needs to be differentiated from primary tumors of these sites. Emphasis should be placed on the morphological recognition of CCRCC, and immunocytochemical staining should be used to improve diagnosis. When necessary, molecular testing can be employed for diagnosis. Meanwhile, the medical history should be carefully inquired by pathologists to avoid missed diagnosis and misdiagnosis.

Objective To analyze the current state,research hotspots,and development trends of electroencephalography(EEG)applied in the field of autism spectrum disorder(ASD). Methods Relevant literature from the Web of Science core collection database from January,2014 to January,2024 were retrieved and analyzed using CiteSpace 6.2.R4. Results A total of 1 509 articles were included,with an increasing trend in publication volume over the years.The United States ranked highest in both publication volume and node centrality.The primary journals in this field were concentrated in clinical medicine,immunology and psychology.Keyword co-occurrence and clustering indicated that research primarily focused on the correlation between core symptoms of ASD and EEG indicators,differential diagnosis of ASD and its comorbidities,brain functional connectivity,and assessment of rehabilitation efficacy.Keywords bursted in the past three years mainly included artificial intelligence and machine learning. Conclusion The researches in EEG technology in the field of ASD is generally increasing.Future researches may focus on exploring the brain network mechanisms of ASD using EEG combined with multimodal neuroimaging,and machine learning technologies.

Restricted repetitive behaviors (RRBs) are the most characteristic behaviors of autism spectrum disorder. The clinical diagnosis and treatment of RRBs are extremely difficult resulting from its complex and variable etiology, highly heterogeneous clinical manifestations influenced by multiple factors (sleep quality, gastrointestinal health, age and gender), lack of precise diagnostic criteria and low effectiveness of current clinical interventions. This article mainly reviews the recent related studies on RRBs and discusses the challenges and progress in clinical diagnosis and treatment of RRBs so as to provide new ideas for future clinical diagnosis and treatment.

Humans ; Stapes ; Otosclerosis/surgery* ; Ossicular Prosthesis ; Stapes Surgery ; Incus

Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics* ; Child ; China/epidemiology* ; Cryptorchidism/genetics* ; Disorders of Sex Development/genetics* ; Female ; Genital Diseases, Male ; Genotype ; Humans ; Hypospadias/genetics* ; Male ; Membrane Proteins/genetics* ; Penis/abnormalities* ; Phenotype ; Retrospective Studies ; Steroid 21-Hydroxylase/genetics*