Objective: Sialidosis type 2 has variants that are both catalytically inactive (severe), while sialidosis type 1 has at least one catalytically active (mild) variant. This study aimed to discuss the structural changes associated with these variants in a newly reported family carrying N-acetyl-α-neuraminidase-1 (NEU1) variants and explore the clinical characteristics of different combinations of variants in sialidosis type 1. Methods: First, whole-exome sequencing and detailed clinical examinations were performed on the family. Second, structural analyses, including assessments of energy, flexibility and polar contacts, were conducted for several NEU1 variants, and a sialidase activity assay was performed. Third, previous NEU1 variants were systematically reviewed, and the clinical characteristics of patients in the severe-mild and mild-mild groups with sialidosis type 1 were analyzed. Results: We report a novel family with sialidosis type 1 and the compound heterozygous variants S182G and V143E. The newly identified V143E variant was predicted to be a mild variant through structural analysis and was confirmed by a sialidase activity assay. Cherry-red spots were more prevalent in the severe-mild group, and ataxia was more common in the mild-mild group. Impaired cognition was found only in the severe-mild group. Moreover, patients with cherry-red spots and abnormal electroencephalographies and visual evoked potentials had a relatively early age of onset, whereas patients with myoclonus had a late onset. Conclusion Changes in flexibility and local polar contacts may be indicators of NEU1 pathogenicity. Sialidosis type 1 can be divided into two subgroups according to the variant combinations, and patients with these two subtypes have different clinical characteristics.

OBJECTIVE: To explore the clinical phenotype and genetic basis for a Chinese pedigree affected with familial progressive hyperpigmentation and hypopigmentation (FPHH). METHODS: Clinical data and family history for a child with FPHH were collected. Peripheral blood samples were collected from the child, his parents and two sisters. Following the extraction of DNA, high-throughput sequencing was carried out to screen for genetic variant associated with the disease. Candidate variant was verified by Sanger sequencing of his family members. RESULTS: The main clinical features of the proband have included progressive hyperpigmentation and hypopigmentation. High-throughput sequencing revealed that he has harbored a heterozygous c.105T>A (p.Asn35Lys) variant of the KITLG gene, which was unreported previously. Sanger sequencing confirmed that the variant has co-segregated with the disease phenotype in his pedigree. CONCLUSION For infants with progressive skin pigmentation and hypopigmentation spots, FPHH should be suspected. The heterozygous c.105T>A (p.Asn35Lys) variant of the KITLG gene probably underlay the FPHH in this pedigree.
Male ; Humans ; Pedigree ; Hypopigmentation/genetics* ; Phenotype ; Hyperpigmentation/genetics* ; China

To detect the expression of galectin-13 in allergic diseases and provide a new way for the diagnosis and treatment of allergic diseases. A retrospective analysis method was used to screen 216 patients with allergic diseases with house dust mites or aspergillus as allergens who visited the Department of Allergy and Department of Respiratory of Tongji Hospital attached Tongji Medical College, Huazhong University of Science and Technology from March 2018 to May 2021. These allergic diseases included allergic asthma, allergic bronchopulmonary aspergillosis, allergic rhinitis, allergic conjunctivitis, atopic dermatitis, allergic urticaria. 25 subjects without underlying diseases were selected as healthy controls. The galectin-13 content in serum in each group were detected, and the Pearson correlation was used to determine the correlation between the galectin-13 content in serum in each group and blood eosinophil count, blood specific IgE, the score scale of allergic disease. The expression of Galectin-13 was increased in allergic asthma group (71.44±39.44) pg/ml, allergic bronchopulmonary aspergillosis group (100.10±47.62) pg/ml, allergic rhinitis group (54.11±24.81) pg/ml and dermatitis group (44.12±19.51) pg/ml. The expression of galectin-13 was not significantly increased in allergic urticaria group (32.75±10.29) pg/ml and the allergic conjunctivitis group (30.55±9.87) pg/ml. The galectin-13 content in serum, was positively correlated with blood eosinophil count( r s=0.54, P<0.001) and house dust mite specific IgE ( r s=0.51, P<0.001) in allergic asthma group, and was positively correlated with blood eosinophil count( r s=0.63, P=0.025) and aspergillus fumigatus specific IgE ( r s=0.58, P=0.046) in allergic bronchopulmonary aspergillosis group. It was positively correlated with blood eosinophil count ( r s=0.52, P=0.000 2) and house dust mite specific IgE ( r s=0.41, P=0.005) in allergic rhinitis group. In allergic conjunctivitis group, the expression of galectin-13 was positively correlated with conjunctivitis symptom score ( r s=0.47, P=0.048). In atopic dermatitis group, the expression of galectin-13 was positively correlated with blood eosinophil count ( r s=0.58, P<0.001) and house dust mite specificity IgE ( r s=0.47, P=0.002). In allergic urticaria group, the expression of galectin-13 was not significantly correlated with blood eosinophil count or house dust mite specific IgE. Galectin-13 may be related to the occurrence and progress of allergic diseases and may be involved in the occurrence of eosinophilic inflammation.

To detect the expression of galectin-13 in allergic diseases and provide a new way for the diagnosis and treatment of allergic diseases. A retrospective analysis method was used to screen 216 patients with allergic diseases with house dust mites or aspergillus as allergens who visited the Department of Allergy and Department of Respiratory of Tongji Hospital attached Tongji Medical College, Huazhong University of Science and Technology from March 2018 to May 2021. These allergic diseases included allergic asthma, allergic bronchopulmonary aspergillosis, allergic rhinitis, allergic conjunctivitis, atopic dermatitis, allergic urticaria. 25 subjects without underlying diseases were selected as healthy controls. The galectin-13 content in serum in each group were detected, and the Pearson correlation was used to determine the correlation between the galectin-13 content in serum in each group and blood eosinophil count, blood specific IgE, the score scale of allergic disease. The expression of Galectin-13 was increased in allergic asthma group (71.44±39.44) pg/ml, allergic bronchopulmonary aspergillosis group (100.10±47.62) pg/ml, allergic rhinitis group (54.11±24.81) pg/ml and dermatitis group (44.12±19.51) pg/ml. The expression of galectin-13 was not significantly increased in allergic urticaria group (32.75±10.29) pg/ml and the allergic conjunctivitis group (30.55±9.87) pg/ml. The galectin-13 content in serum, was positively correlated with blood eosinophil count( r s=0.54, P<0.001) and house dust mite specific IgE ( r s=0.51, P<0.001) in allergic asthma group, and was positively correlated with blood eosinophil count( r s=0.63, P=0.025) and aspergillus fumigatus specific IgE ( r s=0.58, P=0.046) in allergic bronchopulmonary aspergillosis group. It was positively correlated with blood eosinophil count ( r s=0.52, P=0.000 2) and house dust mite specific IgE ( r s=0.41, P=0.005) in allergic rhinitis group. In allergic conjunctivitis group, the expression of galectin-13 was positively correlated with conjunctivitis symptom score ( r s=0.47, P=0.048). In atopic dermatitis group, the expression of galectin-13 was positively correlated with blood eosinophil count ( r s=0.58, P<0.001) and house dust mite specificity IgE ( r s=0.47, P=0.002). In allergic urticaria group, the expression of galectin-13 was not significantly correlated with blood eosinophil count or house dust mite specific IgE. Galectin-13 may be related to the occurrence and progress of allergic diseases and may be involved in the occurrence of eosinophilic inflammation.

Objective:To investigate the species and concentrations of airborne pollens in Wuhan urban area and their correlation with the number of visits of allergic rhinitis patients.Methods:Retrospective analysis of pollen dispersal characteristics and the number of patients with allergic rhinitis presenting to Tongji Hospital of Huazhong University of Science and Technology in Wuhan city from October 2017 to September 2018, as well as pollen allergen testing results of patients with allergic rhinitis presenting to the Department of Allergy during the same period. Pollen data was collected by a 1-year air sampling conducted in Wuhan City during the same period using the volumetric method. The samples were examined microscopically to identify airborne pollen species and counted, and the concentrations of various pollens were calculated. Information on patients with allergic rhinitis who came to the hospital during the same period was collected, and the correlation between pollen concentration and the number of patient visits was statistically analyzed using Pearson correlation analysis.Results:A total of 35 types of airborne pollen were collected from October 2017 to September 2018. The dominant pollens in spring were Moraceae (68.46%, 1 042/1 522), Pendula (12.22%, 186/1 522) and Cupressaceae (2.30%, 35/1 522); in summer and autumn, the dominant pollens were Artemisia (3.81%, 58/1 522), Humulus (4.01%, 61/1 522) and Ambrosia (0.59%, 9/1 522). The peak number of visits for allergic rhinitis patients occurred in March-April and July-September, both exceeding 2 200 visits and reaching a maximum of 2 545 visits. There was a very weak correlation between the number of visits and the total pollen concentration ( r=0.17, P=0.001). The average monthly pollen skin prick test positive rate of patients with allergic rhinitis was highest in March-May, exceeding 40% with a maximum of 45.73%, and there was a significant correlation between the positive pollen skin prick test positive rate and the average monthly pollen concentration ( r=0.62, P=0.031). Conclusions:Pollen species and concentrations fluctuated continuously with time in Wuhan urban area, with peak pollen dispersal in spring from March to April and in autumn from August to September. The number of visits to patients with allergic rhinitis and the positive pollen skin prick test positive rate increased accordingly during the peak pollen concentration periods.

Objective:To investigate the species and concentrations of airborne pollens in Wuhan urban area and their correlation with the number of visits of allergic rhinitis patients.Methods:Retrospective analysis of pollen dispersal characteristics and the number of patients with allergic rhinitis presenting to Tongji Hospital of Huazhong University of Science and Technology in Wuhan city from October 2017 to September 2018, as well as pollen allergen testing results of patients with allergic rhinitis presenting to the Department of Allergy during the same period. Pollen data was collected by a 1-year air sampling conducted in Wuhan City during the same period using the volumetric method. The samples were examined microscopically to identify airborne pollen species and counted, and the concentrations of various pollens were calculated. Information on patients with allergic rhinitis who came to the hospital during the same period was collected, and the correlation between pollen concentration and the number of patient visits was statistically analyzed using Pearson correlation analysis.Results:A total of 35 types of airborne pollen were collected from October 2017 to September 2018. The dominant pollens in spring were Moraceae (68.46%, 1 042/1 522), Pendula (12.22%, 186/1 522) and Cupressaceae (2.30%, 35/1 522); in summer and autumn, the dominant pollens were Artemisia (3.81%, 58/1 522), Humulus (4.01%, 61/1 522) and Ambrosia (0.59%, 9/1 522). The peak number of visits for allergic rhinitis patients occurred in March-April and July-September, both exceeding 2 200 visits and reaching a maximum of 2 545 visits. There was a very weak correlation between the number of visits and the total pollen concentration ( r=0.17, P=0.001). The average monthly pollen skin prick test positive rate of patients with allergic rhinitis was highest in March-May, exceeding 40% with a maximum of 45.73%, and there was a significant correlation between the positive pollen skin prick test positive rate and the average monthly pollen concentration ( r=0.62, P=0.031). Conclusions:Pollen species and concentrations fluctuated continuously with time in Wuhan urban area, with peak pollen dispersal in spring from March to April and in autumn from August to September. The number of visits to patients with allergic rhinitis and the positive pollen skin prick test positive rate increased accordingly during the peak pollen concentration periods.

Objective To evaluate the effect of the rehabilitation software based on information-motivation-behavioral skills(IMB)model on meeting the rehabilitation needs, increasing the continuation of rehabilitation and the rehabilitation compliance, improving the outcome of rehabilitation among elderly patients with fracture. Methods Based on the theory of"information-motivation-behavior"and the unity of human- computer interaction as the design concept, the status quo of rehabilitation training and rehabilitation needs of elderly patients with fracture were reviewed. The rehabilitation training test was applied to 30 patients with fracture in orthopedic department of our hospital. 30 patients in the same period were randomly selected as control group. All patients underwent Self-Rating Anxiety Scale (SAS) and Self-rating Depression Scale (SDS) scores before and 1 and 3 months after operation. Differences were tested using Student's t test. Results Developed rehabilitation application software based on information module、motivation module and behavior module. The test group using this software for rehabilitation training was compared with the control group. The results showed that there was no significant difference in preoperative SAS and SDS scores between the two groups (t=-0.648,-0.284, P>0.05). At 1 and 3 months after operation, the SAS scores in the test group were (40.05 ± 6.77), (32.01 ±5.86), which were lower than (45.50 ± 11.32), (39.55 ± 5.67) in the control group (t=-4.14,-4.89, P<0.01). The SDS scores in the test group were (42.30 ± 9.86), (33.23 ± 6.56), which were lower than (46.50 ± 10.32), (38.45 ± 7.80) in the control group (t=-3.52,-3.82, P=0.001). Conclusion Rehabilitation software can influence the rehabilitation behavior of elderly fracture patients from information and motivation factors, provide professional guidance and rehabilitation intervention, and promote the implementation of active rehabilitation.

Objective: To study the clinicopathologic features of lymphoproliferative disease by lymph node core needle biopsy(CNB)and to evaluate the diagnostic significance of CNB for lymphoproliferative disease. Methods: The annual distribution, entity constitute, clinical finding, gross feature, morphologic change, affiliate study and repeat biopsy diagnosis of 1 013 cases of lymph node CNB diagnosed at West China Hospital of Sichuan University from January 2009 to December 2015 were investigated. Results: (1) Proportion of lymph node CNB in total amount of biopsy specimens increased from 0.2% in 2009 to 0.8% in 2015.(2) The study cohort included 471 lymphomas, 12 atypical lymphoid hyperplasia (ALH), 136 suspected lymphomas, 372 benign lesions, and 22 cases of descriptive diagnoses. The most common types were diffuse large B cell lymphoma and T-lymphoblastic lymphoma. (3) Majority of patients were adolescents and children younger than 20 years or the elderly older than 60 years. 53.1% CNB tumor specimen consisted of ≥4 tissue cores and 40.5% were >2 cm in length. (4) 104 CNB cases with previous history of excision biopsy was included 45 carcinomas(no metastatic carcinoma was found), 32 lymphomas for treatment observation.1/14 suspicious lymphomas, 1/1 ALH and 3/22 cases benign lesions were diagnosed as lymphoma by repeat biopsy respectively. (5) 217 CNB cases were diagnosed as lymphoma by subsequent CNB (70), or subsequent excision biopsy (147) including 78.5%(73/93) suspected lymphomas, 5/7 ALH and 32.3%(20/62)benign lesions. Conclusions Lymph node CNB has certain clinical indications, although limited for the diagnosis of lymphoproliferative disorders. Suspected lymphomas and ALH diagnosed by CNB should be followed by repeat tissue biopsy. For the benign lesions by CNB it does not rule out additional biopsy to further investigate the lesion.

Objective To analyze the characteristics of breast medullary carcinoma in CEUS and to compare with pathologic features.Methods Morphologic characteristics of 13 breast medullary carcinomas in CEUS were analyzed.The diameter of mass before and after CEUS were compared.Parameters from time-intensity curves of masses were analyzed in contrast with peripheral breast parenchyma.All the results from CEUS analysis were compared with pathological manifestations.Results Breast medullary carcinoma was characterized as irregular shape (n=10),clear margins (n=11) and uniform enhancement (n=11) in CEUS.These characteristics were in accordance with their morphologic characters in pathology.The diameter of mass before and after CEUS had no significant defference (P=0.61),which was in accordance with expansive growth in pathology.In contrast with peripheral breast parenchyma,the arrival time and time to peak of breast medullary carcinoma were significantly shorter (P=0.034,0.021),and peak enhancement intensity was significantly stronger (P=0.005),which were in accordance with the increased vascular density and their uniform distribution,big arteries at the margin of masses in pathology.Conclusion Breast medullary carcinoma has distinguished characteristics in CEUS,which are in accordance with characters in pathology,and can be used as the basis in clinical diagnosis and differential diagnosis of breast medullary carcinoma.

Objective To investigate the mechanism of Smad ubiquitination-related factor 2 (Smurf2)neddylation. Methods The Smurf2 protein level was tested by overexpression of Nedd8,while the method of immunoprecipitation(IP) and Western blotting were used to analyz Smurf2-Nedd8 modification.The GST-pulldown experiment was conducted to prove protein interactions.The protein was obtained by grinding mouse tissue and Western blotting was used to test the protein expression level.Results Over expression of Nedd8 could lead to the down regulation of the Smurf2′s protein level.Smurf1 and Smurf2 could interact in the GST-pulldown experiment. Smurf1 could enhance Smurf2-Nedd8 modification.The Smurf2′s protein level was up-regulated in mouse tissue of Smurf1 C426A.Conclusion There is some relationship and also difference between Smurf1 and Smurf2.Smurf1 can enhance Smurf2-Nedd8 modification.