Juvenile dermatomyositis (JDM) is an autoimmune disease manifesting as proximal muscle weakness and skin rash and can involve multiple systems and visceral organs. Myositis-specific autoantibodies (MSAs) are highly associated with various complications and prognosis in JDM. Patients with anti-Mi-2 antibodies tend to have good prognosis and typical clinical symptoms. Patients with anti-MDA5 antibodies often have diffuse interstitial lung disease and skin ulcer, with mild symptoms of myositis. Patients with anti-NXP2 antibodies often have calcinosis, and such antibodies are associated with gastrointestinal bleeding and perforation. Patients with anti-TIF1-γ antibodies have diffuse and refractory skin lesions. Anti-SAE antibodies are rarely detected in children, with few reports of such cases. This article reviews the features of clinical phenotypes in JDM children with these five types of MSAs, so as to provide a basis for the clinical treatment and follow-up management of children with JDM.
Autoantibodies ; Dermatomyositis ; Humans ; Lung Diseases, Interstitial/etiology* ; Myositis ; Prognosis

Biomarkers are very useful in the diagnosis and identification of neurocognitive impairments (NCIs) or disorders (NCDs) in HIV-infected individuals, and in particular, blood biomarkers have become more promising because they are cheap and easy to obtain or accept. A systematically literature retrieval was conducted by using PubMed, CNKI, Wanfang and VIP databases for studies about blood biomarkers of neurocognitive impairment of HIV-infected individuals in 2008-2017, according to the inclusion and exclusion criteria. Finally, a total of 43 related articles were included for this systematic review for the purpose of providing scientific evidence for further research and clinical practices.
Adult ; Anti-Retroviral Agents/therapeutic use* ; Biomarkers/blood* ; Cognition Disorders/diagnosis* ; Female ; HIV Infections/drug therapy* ; Humans ; Neurocognitive Disorders/diagnosis*

OBJECTIVE: To identify pathogenic mutation in a Chinese family affected with hereditary spastic paraplegia (HSP) through genetic testing and a follow-up survey. METHODS: Whole exome sequencing was performed on DNA samples of two patients and one unaffected member to screen candidate mutations. Sanger sequencing was used to validate the suspected mutations in all ten family members. RESULTS: Four patients and three asymptomatic members (under 25 years old) carried a c.1771T>C mutation of the KIAA0196, while the other three asymptomatic members (over 40 years old) did not carry the mutation. The mutation was predicted to be "affect protein function", "probably damaging" and "disease causing" by SIFT, PolyPhen-2 and Mutation Taster, respectively. Three asymptomatic carriers were followed up and one of them developed HSP one year later, while the other two had no signs of the disease yet. CONCLUSION The clinical phenotype of the c.1771T>C mutation of KIAA0196 has a considerable heterogeneity and this mutation may be a common pathogenic site of KIAA0196 mutations among Chinese patients with hereditary spastic paraplegia.
Adult ; Asian Continental Ancestry Group ; Heterozygote ; Humans ; Mutation ; Pedigree ; Phenotype ; Proteins ; genetics ; Spastic Paraplegia, Hereditary ; genetics

OBJECTIVE: To analyze the density, distribution and insecticide resistance of Aedes albopictus in Ningbo City in 2021, so as to provide insights into formulation of dengue fever control strategies. METHODS: Four administrative villages were randomly selected from each county (district) in Ningbo City from April to November, 2021, to investigate the indoor population density of Aedes larvae, and the Breteau index (BI) was calculated. The population density of adult mosquitoes was investigated in residential areas, parks/bamboo forests, waste tire stacking sites/waste stations/construction sites in each county (district). On June 2021, larvae of the natural strain A. albopictus were collected from epidemic sites of dengue fever in Ningbo City in 2018, and raised in laboratory. Then, larvae and female mosquitoes without blood feeding were selected for insecticide resistance bioassays, while insecticide-sensitive strains of A. albopictus served as controls. The resistance of A. albopictus larvae to deltamethrin, beta-cypermethrin, propoxur, temephos and dichlorvos using the impregnation method, and the medium lethal concentration (LC₅₀) and resistance ratio (RR) were calculated. The resistance of adult A. albopictus to beta-cypermethrin, permethrin, deltamethrin, propoxur and malathion was determined using the tube bioassay, and the mosquito mortality was calculated. RESULTS: A total of 10 072 small water containers from 9 935 households were investigated in Ningbo City in 2021, and there were 1 276 containers with Aedes larvae detected, with an average BI of 12.89. Totally 1 422 mosquito nets were allocated and 954 female A. albopictus were captured, with an average net trapping index of 1.34 mosquitoes/(net·hour). Both larval and adult A. albopictus mosquitoes were found from April to November, and the density of larval A. albopictus peaked in September (BI = 21.21), while the density of adult A. albopictus peaked in August, with a net trapping index of 2.38 mosquitoes/(net·hour). The LC₅₀ values of delta-methrin, beta-cypermethrin, propoxur, temephos and dichlorvos were 0.017 4, 0.000 9, 0.364 1, 0.038 1 mg/L and 0.001 6 mg/L against larvae of natural strains of A. albopicchus, with RRs of 49.66, 25.53, 9.65, 2.24 and 6.06, and the mortality rates of adult mosquitoes were 66.00% (66/100), 69.39% (68/98), 25.00% (25/100), 98.97% (96/97) and 100.00% (98/98) 24 hours post-treatment with 0.08% beta-cypermethrin, 0.03% deltamethrin, 0.4% permethrin, 0.05% propoxur, and 0.5% malathion for 24 h, respectively. CONCLUSIONS A. albopictus is widely distributed in Ningbo City, with a high population density and presents high-level resistance to common pyrethroid insecticides. The population density and insecticide resistance of A. albopictus requires to be reinforced.
Animals ; Female ; Malathion ; Temefos ; Aedes ; Propoxur ; Permethrin ; Dichlorvos ; Mosquito Vectors ; Larva ; Dengue/prevention & control*

OBJECTIVETo detect and analyze a supernumerary derivative chromosome 15 with combined cytogenetic and molecular techniques, and to discuss the correlation between genomic copy number variations (CNVs) and clinical phenotypes.

METHODSG-banded chromosome analysis and multiplex ligation-dependent probe amplification (MLPA) were carried out. The whole genome of the patient was also analyzed with array-comparative genome hybridization(array-CGH).

RESULTSG-banding analysis indicated that the patient has a karyotype of 47, XY, + mar, with the supernumerary chromsome derived from 15q11-13 region spanning 9.8 Mb from locus 20477397 to 30298155.

CONCLUSIONCNVs of 15q11-13 are associated with mental retardation, language development delay and autistic disorder. Conventional cytogenetic analysis with array-CGH may provide a platform for accurate detection of chromosomal aberrations, which can faciliate the study of genome rearrangement underlying various diseases.

Chromosome Disorders ; genetics ; Chromosomes, Human, Pair 15 ; Cytogenetic Analysis ; methods ; DNA Copy Number Variations ; Humans ; Male ; Phenotype

Schizophrenia (MIM 181500) is a complex disorder affecting approximately 1% of the population worldwide. Epidemiologic evidences, together with recent linkage and association studies, have clearly demonstrated the high heritability of schizophrenia (up to 80%). Uncovering the genetic mechanism of schizophrenia has became one of the greatest challenges for both psychiatry and genetics. In recent years, remarkable advances in the genetics of this disorder has been achieved with the rapid growth of human genome information and experiment technologies. Several candidate genes within some of the best-supported linkage regions have been reported and, more importantly, replicated. Moreover, these genes present a significant connection in the signaling pathways implicated in the development of schizophrenia, especially NMDA receptor-mediated glutamate transmission. In this review, we summarize the recent advances in the genetics of schizophrenia, focusing particularly on linkage disequilibrium analysis and the latest understanding of the neurobiology of the disorder.
Acyltransferases ; genetics ; Carrier Proteins ; genetics ; Dysbindin ; Dystrophin-Associated Proteins ; Humans ; Membrane Proteins ; genetics ; Nerve Tissue Proteins ; genetics ; Neuregulin-1 ; Receptors, N-Methyl-D-Aspartate ; genetics ; Schizophrenia ; genetics

OBJECTIVETo analyze the clinical manefestation and genetic basis of split hand and foot malformation (SHFM) in a Chinese pedigree.

METHODSThe affected people in the family were checked by X-rays. Eighteen patients provided their peripheral blood, and the genomic DNA of the samples was extracted. The linkage and haplotype analysis were carried out using the microsatellite markers, and the limb malformation related gene Dactylin (DAC) including the coding region, exon-intron boundaries and part of promoter region was sequenced.

RESULTSMost members of the family with the disease phenotype showed absence or hypoplasia of the index finger, and absence or 3-4 syndactyly of the middle finger. The degree of abnormality in feet was severer than that in hands. All phenotypes of the patients display the basic characters of SHFM. Since the maximum two point LOD score of the D10S192 was 3.50 (theta=0.00), the SHFM in this pedigree can be categorized to the SHFM3. The haplotype analysis of recombination events revealed the candidate locus to a 21cM region between D10S185 and D10S1693. No mutation was found by the sequencing result of DAC gene.

CONCLUSIONThrough the analysis of phenotype of the patients, the typical SHFM disease can be confirmed. The linkage and haplotype analysis demonstrated that the 21cM region in 10q23-q26 locus was the major cause to the disease in this pedigree. The mutation of DAC gene can be excluded from cause of SHFM3 phenotype.

Adult ; Asian Continental Ancestry Group ; genetics ; Chromosome Mapping ; Female ; Foot Deformities, Congenital ; genetics ; Hand Deformities, Congenital ; genetics ; Haplotypes ; genetics ; Humans ; Male ; Pedigree

Male ; Humans ; Spermatic Cord ; Mesothelioma ; Mesothelioma, Malignant

Objective: To investigate the clinicopathological characteristics of esophageal carcinoma with gland duct differentiation. Methods: The clinical, morphologic and immunohistochemical (IHC) features of eight cases of esophageal carcinoma with gland duct differentiation diagnosed from 2012 to 2022 at the First Affiliated Hospital of Soochow University were summarized. Results: There were four males and four females, with a mean age of 68.5 (range 59-82) years. Two tumors were located in middle esophagus, five in the lower esophagus, and one in the cardia. The mean diameter was 2.4 cm (range 0.6-4.5 cm). The tumor had a bilayer epithelial structure, including the inner luminal epithelium and the outer basal epithelium. Immunohistochemistry showed that CK7 (8/8) and CK18 (8/8) were positive in the inner epithelium. p40 (8/8), p63 (8/8) and CK5/6 (8/8) were positive in the outer epithelium. SMA, calponin and CD117 were all negative. p53 mutants were found in all eight cases (strong and diffuse positivity in 6/8; complete loss of expression in 2/8). No columnar metaplasia, intestinal metaplasia and ectopic gastric mucosa were observed in the surface squamous epithelium in the cases. The mean follow-up time was 21.5 months (range 5-51 months). Seven patients survived and one patient died 31 months after surgery due to recurrence and liver metastasis. Conclusion: Esophageal carcinoma with esophageal gland duct differentiation is a rare tumor with unique histologic and IHC characteristics.
Male ; Female ; Humans ; Middle Aged ; Aged ; Aged, 80 and over ; Esophageal Neoplasms/pathology* ; Epithelium/pathology* ; Metaplasia/metabolism* ; Carcinoma/pathology*

Aluminum ; Bone Diseases ; Fluorides ; Follow-Up Studies ; Humans ; Radiography