OBJECTIVE: To explore the clinical phenotype and genetic variant in a child with Verheij syndrome (VRJS). METHODS: A child who had presented at the Soochow University Affiliated Children's Hospital and Wujiang District Children's Hospital in July 2022 for "elevated scapula since early childhood" was selected as the study subject. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: The child had manifested elevated scapulae, torticollis, neck asymmetry, facial dysmorphism, dispersed café-au-lait spots, limited mobility of upper limbs and shoulder joints, and intellectual disability. Sequencing revealed that he has harbored a de novo heterozygous c.405dupT (p.Ile136Tyrfs*4) variant of the PUF60 gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), this variant was classified as pathogenic (PVS1+PS2_moderate+PM2_supporting). Combined his clinical features and result of genetic testing, the child was diagnosed with VRJS due to variant of the PUF60 gene. CONCLUSION The clinical manifestations of VRJS include facial dysmorphism, intellectual disability, elevated scapulae, vertebral fusion, other skeletal malformations, without significant abnormalities of the heart, kidney, and eyes, which need to be distinguished from Klippel-Feil syndrome. Above finding has expended the mutation spectrum of the PUF60 gene and provided a reference for delineation of the genotype-phenotype correlation of the VRJS.
Child ; Child, Preschool ; Humans ; Male ; Cafe-au-Lait Spots ; Computational Biology ; Genetic Testing ; Genomics ; Intellectual Disability/genetics* ; Mutation

Objective:To understand the willingness of pre-exposure prophylaxis (PrEP) use to prevent HIV infection and related factors in men who have sex with men (MSM) in Yunnan Province.Methods:Cross-sectional study method and snowball sampling method was used to carry out the survey in 14 cities (autonomous prefectures) in Yunnan from April to June 2021. According to national sentinel surveillance program, the sample size was 400 at national sentinel sites and 100 at provincial sentinel sites. The related factors of PrEP use willingness were analyzed by multiple logistic regressions with software SPSS 22.0.Results:A total of 2 450 questionnaires were completed, the rate of having heard of PrEP was 68.5% (1 677/2 449), the willingness rate of PrEP use was 56.7% (1 343/2 368), the willing rate of PrEP use at their own expense was 30.6% (724/2 368), and the willingness rate of free PrEP use was 56.2% (1 330/2 367). The of multivariate logistic analysis results showed that related factors of low willingness to use PrEP included aged 40-49 years and 50 years or above (a OR=2.49 and a OR=4.48), Han ethnic group (a OR=1.47), residence in other provinces (a OR=1.64), education level of senior high school (a OR=1.96) and college or above (a OR=3.49), sample source of bath house (a OR=3.53), online recruiting (a OR=2.53) and voluntary counseling and testing (a OR=1.42), local living time for 3-6 months and 7-12 months (a OR=0.18 and a OR=0.25) ,class 2 and 3 of survey areas (a OR=3.63 and a OR=1.71), having no anal sex with men in the past week (a OR=2.60), having no commercial homosexual behavior in the past six months (a OR=13.32) and self-perceived higer risk for HIV infection (a OR=0.50). Conclusions:There was more than half of MSM with willingness to use PrEP. The health education to promote PrEP use should be strengthen in MSM who had low willingness to use PrEP from underdeveloped areas, in Han ethnic group, with older age, from other provinces, with shorter local living time and self-perceived low risk for HIV infection.

OBJECTIVE: To explore the genetic basis for 7 patients with Alström syndrome. METHODS: DNA was extracted from peripheral blood samples of the patients and their parents. Whole exome sequencing was carried out for the patients. Suspected variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: Genetic testing revealed 12 variants of the ALMS1 gene among the 7 patients, including 7 nonsense and 5 frameshift variants, which included c.5418delC (p.Tyr1807Thrfs*23), c.10549C>T (p.Gln3517*), c.9145dupC (p.Thr3049Asnfs*12), c.10819C>T (p.Arg3607*), c.5701_5704delGAGA (p.Glu1901Argfs*18), c.9154_9155delCT (p.Cys3053Serfs*9), c.9460delG (p.Val3154*), c.9379C>T (p.Gln3127*), c.12115C>T (p.Gln4039*), c.1468dupA (p.Thr490Asnfs*15), c.10825C>T (p.Arg3609*) and c.3902C>A (p.Ser1301*). Among these, c.9154_ 9155delCT, c.9460delG, c.9379C>T, and c.1468dupA were unreported previously. Based on the standards and guidelines of American College of Medical Genetics and Genomics, the c.9379C>T and c.12115C>T variants of the ALMS1 gene were predicted to be likely pathogenic (PVS1+PM2), whilst the other 10 variants were predicted to be pathogenic (PVS1+ PM2+ PP3+PP4). CONCLUSION ALMS1 variants probably underlay the Alström syndrome in the 7 patients, and genetic testing can provide a basis for the clinical diagnosis of this syndrome. The discovery of four novel variants has expanded the mutational spectrum of Alström syndrome.
Alstrom Syndrome/genetics* ; Cell Cycle Proteins/genetics* ; Humans ; Mutation ; Pedigree ; Whole Exome Sequencing

Objective:To survey and supervise the risk of infection control and radiation safety in the radiological diagnostic workplace for COVID-19, and provide data support for the safety protection of radiographers and related staff.Methods:4 emergency hospitals for COVID-19 including 2 makeshift hospitals, module hospital and brick pattern hospital in Hubei province were performed for testing and evaluation of imaging performance and radiological protection for the 8 new installed CT scanners and places according to the national standards of WS 519-2019 and GBZ 130-2013. The infection control safety factors such as the layout of the equipment room were monitored and investigated. Two COVID-19 designated hospitals including general hospital and infectious disease specialized hospital were selected to carry out field investigation and sampling of environmental biological samples for 4 CT rooms. Then the samples were detected for the nucleic acid of novel coronavirus. The results of radiodiagnostic workplace overall arrangement, infection prevention and the nucleic acid testing were analyzed, and the biological safety reliability and risk point were evaluated.Results:The indicators of imaging performance and radiation protection for 8 CT scanners in emergency hospitals could meet the requirements of national standards.Each of 2 makeshift hospitals had 3 CT rooms with the area of 38.8 m 2 and 4 mm Pb equivalent thickness of protective shielding. The CT rooms in module hospital and brick pattern hospital were 20.0 m 2, and 35.8 m 2 in areas, with 4 mm Pb equivalent and 3 mm Pb equivalent thickness of protection shielding, respectively. The 8 radiological diagnostic workplaces of the emergency hospitals were designed and constructed based on " three zones with two passage ways" . The result of the nucleic acid test indicated that the positive samples were found at the multiple sites such as scanning bed, internal of gantry and ground touched by patients in CT scanning room. The areas such as console panel and ground were risked of pollution by the virus infected hands and feet of radiographers. In addition, the similar positive samples were found in the areas in scanning room with no touch of patients, such as observation window and air outlet. Conclusions:8 CT scanners and rooms in 4 emergency hospitals basically meet the requirements of imaging performance and radiation protection. The disinfection of COVID-19 radiodiagnostic workplace should be standardized.

Objective: In order to evaluate the therapeutic effects and safety of denosumab and bisphosphonates in glucocorticoid induced osteoporosis patients. Methods: Standard studies were obtained by searching CNKI, CBM, VIP, Wanfang, Pubmed, Embase and Cochrane databases. Results: Three RCTs with 869 patients were included in this study. It showed that the mean changes of lumbar spine, total hip and femoral neck bone mineral density (BMD) for patients in denosumab group were increased by 2.47%, 1.43% and 1.07% respectively compared to those of bisphosphonates group.There was no statistically significant difference between patients receiving denosumab and those receiving bisphosphonate in terms of adverse events and serious adverse events. Conclusions Denosumab has an effective increase for lumbar spine, total hip and femoral neck bone mineral density, and the safety of both is similar.

Objective To explore the clinical value of laparoscopic ventral rectopexy for rectal prolapse.Methods From Jan 2013 to Jan 2017,26 patients with complete rectal prolapse were divided into control group (15 patients) undergoing laparoscopic rectal fixation,and 11 patients in study group were treated with rectal ventral fixation.Results There was no significant difference in operation time,bleeding volume and exhaust time between the two groups (t =1.839,0.138,0.932,all P ＞ 0.05).In the study group,2 cases had temporarily postoperative fever.Following up for 12 to 36 months,1 case recurred in the control group and 1 case in the study group.The length of rectal prolapse was about 2 cm.Of the 7 patients with constipation in the control group,symptoms disappeared in 2 cases,symptoms improved in another 2 cases,and 5 cases had new constipation.Of the 4 patients with anal incontinence,2 cases had recovered and 1 case had symptoms improved.Among the 6 patients with constipation in the study group,symptoms disappeared in 3 cases,symptoms improved in 2 cases.Of the 3 patients with pelvic prolapse,2 cases recovered and 1 case improved.The pelvic prolapse and constipation in the study group was less severe than that in the control group (x2 =4.909,P ＜ 0.05).Conclusion Laparoscopic rectal ventral fixation for the treatment of complete rectal prolapse is less traumatic,safor and more effective.

Objective To investigate the tumor/ non-tumor (T/ NT) ratio during 99 Tcm-hydrazinon-icotinamide(HYNIC)-( poly-( ethylene glycol), PEG) 4-Glu( cyclo ( Arg-Gly-Asp-D-Phe-Lys ( PEG4 ))) 2 ( 99 Tcm-3PRGD2 ) SPECT/ CT imaging and clinical pathological features of breast cancer. Methods Forty-five female patients (age range: 39-76 (53.0±9.5) years) with suspected breast malignant nodules or mas-ses from October 2016 to June 2017 were prospectively enrolled. Patients underwent 99 Tcm-3PRGD2 SPECT/CT imaging before breast puncture and surgery. All subjects had pathological results, and estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2(HER-2), Ki-67 and mi-crovessel density ( MVD) were obtained by immunohistochemistry and fluorescence in situ hybridization(FISH). Two-sample t test and Kruskal-Wallis H test were used to analyze the data. Results Invasive duc-tal carcinoma was pathologically confirmed in 35 of 45 patients. There were 7 patients in stage Ⅰ, 11 pa-tients in stage ⅡA and 17 patients in stage ⅡB. The Luminal A subtype, Luminal B subtype, ERBB2+subtype, Basal-like subtype were found in 6, 9, 9 and 11 patients, respectively. The T/ NT ratio was signifi-cantly higher in the stageⅡB patients than that in stageⅠ+ⅡA patients (4.54±1.46 vs 3.32±1.72, t= -2.24, P<0.05). Patients with ERBB2+ subtype had higher T/ NT ratio compared to patients with Basal-like sub-type: 5.80(3.90, 6.70) vs 2.80(2.20,3.50), H= 11.06, χ2 = 15.31, both P<0.05. Besides, the T/ NT ra-tios in the HER-2 positive group and lymphatic metastasis group were significantly higher than those in the HER-2 negative group and group without lymph node metastasis (t values: -3.99, -2.51, both P<0.05). MVD of HER-2 positive group was higher than that of HER-2 negative group (t= 7.13, P<0.01). Conclu-sion The T/ NT ratio during 99 Tcm-3PRGD2 SPECT/ CT imaging has relations with TNM staging, lymph node infiltration and HER-2 in breast cancer.

Objective To explore the clinical characteristics,diagnosis and treatment of polycythemia vera(PV) transforming to acute myeloid leukemia(AML).Methods The clinical features and process of diagnosis and treatment in 4 cases of PV transforming to AML were analyzed.Results The case 1 had 10 years history of PV,after experiencing PV,had myelofibrosis and transformed to AML at the end stage of natural disease course;the case 2 had 7 years history of PV,orally took hydroxyurea(HU) treatment in recent 2 years and transformed to AML at present,his chromosome karyotype analysis showed 46,XY,del(7)(q31q36),del (18) (q22)[10],which was considered as treatment-related AML;the case 3 and 4 orally took H U for a long time after diagnosing HU,and respectively turned into AML during the pathologic polyemia stage after 6 and 7 years.Conclusion PV can be transformed to AML,the safety of HU in treatment should by paid attention to.

Objective To investigate the clinical and genetic features of juvenile-onset Huntington disease (HD).Methods The clinical data of members from one juvenile-onset HD family,admitted to our hospital in February 2015,were collected,and the family pedigree tree was drawn.Peripheral venous blood of volunteers of this family was extracted to pursue IT15 genetic test.Results The pedigree tree indicated that HD was autosomal dominant inheritance.There were 3 patients in this family,2 of them died,and 2 were juvenile-onset HD.Clinical manifestations of these patients were characterized by dystonia,dysarthria,ataxia and cognitive dysfunction.Among 7 participants who pursued genetic test,4 were normal,and 3 carried expanded alleles,whose cytosine-adenine-guanine trinucleotide (CAG) repeat number was 59,60,and 57,respectively.Conclusions (1) The clinical manifestations of juvenile-onset HD are characterized by dystonia,dysarthria,ataxia and cognitive dysfunction;juvenile-onset HD has rapid progression.(2) The phenomenon called "anticipation" is found in this family.