1.Current status of hospital infection management in psychiatric hospitals in the Ningxia Hui Autonomous Region
Xuebing XU ; Gaofeng CHANG ; Aiqin MA ; Jingyue HUANG ; Hong JIANG ; Lei XIE ; Jia WU ; Yongkun LU
Sichuan Mental Health 2022;35(1):37-41
ObjectiveTo investigate current status of hospital infection management in psychiatric hospitals in the Ningxia Hui Autonomous Region, so as to provide references for improving the level of hospital infection management of psychiatric hospitals. MethodsIn December 2020, on-site supervision was conducted on hospital infection management in all 9 psychiatric hospitals in the Ningxia Hui Autonomous Region, meantime, the self-compiled questionnaire on hospital infection management status was used for investigation. ResultsAmong the selected hospitals, nine (100.00%) psychiatric hospitals had the main hospital leaders in charge of hospital infection management, five (55.56%) hospitals had established a hospital infection management committee, six (66.67%) hospitals had established an independent hospital infection management department, and one (11.11%) hospital had developed all 13 systems mentioned in the questionnaire related to hospital infection management and job responsibilities. In terms of hospital infection management staff, there were 23 staff members in the nine psychiatric hospitals, including 3 in the specialty (13.04%) and 20 in the part-time setting (86.96%). The score of the implementation of the basic system of hospital infection management in nine hospitals was (3.28±2.22). ConclusionThe system specification related to hospital infection management in the Ningxia Hui Autonomous Region psychiatric hospitals needs to be improved and further strengthened, the professionalism of hospital infection management personnel needs to be improved.
2.Clinical characteristics of four children with 3M syndrome and a literature review.
Ningan XU ; Kangxiang LIU ; Yan ZHONG
Chinese Journal of Medical Genetics 2023;40(7):795-801
OBJECTIVE:
To analyze the clinical features of 3M syndrome and effect of growth hormone therapy.
METHODS:
Clinical data of four children diagnosed with 3M syndrome by whole exome sequencing at Hunan Children's Hospital from January 2014 to February 2022 were retrospectively analyzed, which included clinical manifestation, results of genetic testing and recombinant human growth hormone (rhGH) therapy. A literature review was also carried our for Chinese patients with 3M syndrome.
RESULTS:
The clinical manifestations of the 4 patients included severe growth retardation, facial dysmorphism and skeletal malformations. Two patients were found to harbor homozygous variants of CUL7 gene, namely c.4717C>T (p.R1573*) and c.967_993delinsCAGCTGG (p.S323Qfs*33). Two patients were found to harbor 3 heterozygous variants of the OBSL1 gene including c.1118G>A (p.W373*), c.458dupG (p.L154Pfs*1002) and c.690dupC (p.E231Rfs*23), among which c.967_993delinsCAGCTGG and c.1118G>A were unreported previously. Eighteen Chinese patients with 3M syndrome were identified through the literature review, including 11 cases (11/18, 61.1%) carrying CUL7 gene variants and 7 cases (7/18, 38.9%) carrying OBSL1 gene variants. The main clinical manifestations were in keeping with previously reported. Four patients were treated with growth hormone, 3 showed obvious growth acceleration, and no adverse reaction was noted.
CONCLUSION
3M syndrome has a typical appearance and obvious short stature. To attain accurate diagnosis, genetic testing should be recommended for children with a stature of less than -3 SD and facial dysmorphism. The long-term efficacy of growth hormone therapy for patients with 3M syndrome remains to be observed.
Humans
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Child
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Retrospective Studies
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Dwarfism/genetics*
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Muscle Hypotonia/genetics*
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Growth Hormone/therapeutic use*
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Cytoskeletal Proteins/genetics*