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Objective:To summarize the clinical phenotype and genotypic characteristics of children with truncation variation in SMC1A gene. Methods:The clinical data of a child with late-onset cluster seizures caused by truncation variation in SMC1A gene diagnosed in February 2021 in Children′s Hospital Affiliated to Zhengzhou University were collected. The relevant literature was reviewed to summarize the clinical characteristics. Results:The proband was a 5-year-old girl, presenting with first seizure at the age of 5 and cluster seizures. She had poor response to multiple antiepileptic drugs, and had normal neurodevelopment before seizures. Whole exome sequencing results revealed a spontaneous heterozygous nonsense variation c.55C>T in SMC1A gene, causing a nonsense variant in the amino acid sequence p.Gln19Ter(p.Gln19 *), which has not been reported. There were a total of 14 relevant literatures, and there were in total 32 cases with truncation variation in SMC1A gene including this case. All children were female and 30 children had early-onset intractable epilepsy, and first seizure median age was 5 months (range: 4 weeks to 40 months); 78.1% (25/32) of them had cluster seizures; 93.8% (30/32) had mental retardation; Cornelia de Lange syndrome clinical score in 68.8% (22/32) of them was≥4. The truncation variations in SMC1A gene of 31 children were de novo, and there were 16 children with frameshift variation (16/32), 12 children with nonsense variation [12/32; 3 children (9.4%, 3/32) with c.2923C>T], 4 children with splice variation (4/32). Conclusions:This study further expands the clinical phenotype and genotype of cases with truncation variation in SMC1A gene. Case presenting with female late-onset cluster seizures has not been reported in China, and genetic testing can be beneficial for early diagnosis of hereditary epilepsy and precision treatment.
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Objective:To investigate the clinical characteristics of patients with combined oxidative phosphorylation deficiency type 4 (COXPD4) related to TUFM gene variation, in order to improve clinicians′ understanding of the disease. Methods:A case of COXPD4 with cystic leukodystrophy admitted to the Children′s Hospital of Zhengzhou University in June 2021 was taken as the study subject, and her clinical characteristics and genetic testing results were retrospectively analyzed. The "combined oxidative phosphorylation deficiency type 4" " TUFM gene" "cystic leukodystrophy" "combined oxidative phosphorylation deficiency 4" "COXPD 4" " TUFM" and "cystic leukodystrophy" were used as keywords, and the documents on COXPD4 related to TUFM gene mutations were reviewed from Wanfang Data Knowledge Service Platform, CNKI, PubMed Document Database, and National Center for Biotechnology Information (NCBI) until August 2021. The COXPD4 patients that have been reported internationally were analyzed for clinical features and variant types. Results:The patient was a 2-month-old girl with clinical manifestations of delayed development and progressive aggravation, elevated lactic acid in serum and cerebrospinal fluid, and diffuse white matter dysplasia with multiple cystic lesions in cerebral magnetic resonance imaging (MRI). Whole exome sequencing showed TUFM gene complex heterozygous variants c.684_684+4delGGTGA and c.1105C>T, which had not been reported in the past. A total of 5 cases of COXPD4 were reported in 4 English literatures. Together with 1 case in this study, there were 4 cases with detailed clinical history data, including 1 male and 3 females. The clinical manifestations were severe early-onset lactic acidosis and developmental lag, and 3 cases were accompanied by progressive infantile encephalopathy. Among them, 3 cases underwent head MRI examination, all of which showed diffuse white matter signal with multiple cystic lesions, 2 cases with basal ganglia involvement and multiple cerebellar gyri deformity. Genetic test indicated different types of TUFM gene variation. Conclusions:COXPD4 is a rare hereditary mitochondrial disease. For cases with COXPD4 clinical and imaging features, TUFM gene mutations can be screened first.
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Objective:To investigate the clinical phenotype and genotypic characteristics of Legius syndrome.Methods:The clinical data of a child with precocious puberty and scattered café-au-lait macules admitted to Department of Neurology of the Children′s Hospital Affiliated to Zhengzhou University in July 2021 were retrospectively analyzed. Trio-whole exome sequencing (trio-WES) was used for genetic analysis to confirm the molecular diagnosis of the family. The relevant literature was reviewed to summarize the clinical characteristics of the disease.Results:The proband was a 10-year and 9-month-old girl, presenting with more than 5 café-au-lait macules with diameter>5 mm on the face and trunk, freckles in the axillary, without Lisch tubercles of iris and tumor signs of neurofibromatosis type 1, diagnosed as central precocious puberty at the age of 8. trio-WES results of the family revealed a spontaneous heterozygous nonsense mutation c.751(exon7) C>T in SPRED1 gene, causing a nonsense mutation in the amino acid sequence p.Arg251Ter (p. Ter251 *). Literature review showed a total of 88 pathogenic mutations were reported in SPRED1 gene, including frameshift mutations (41/88), nonsense mutations (31/88), splice mutations (7/88), missense mutations (6/88), and others (3/88), and no mutational hotspots were found. Clinical phenotype was as follows:>5 café-au-lait macules accounted for 92.8% (168/181), armpit and inguinal freckles 43.5% (73/168), macrocephaly 21.4% (31/145), learning disability 18.0% (30/166), psychomotor retardation 13.8% (22/159), lipoma (adult) 13.7% (21/153), Noonan facial sign 12.1% (21/173), and tumor phenotype of neurofibromatosis type 1 was not reported. Conclusions:The central precocious puberty phenotype of Legius syndrome was not reported in China. The clinical phenotype of Legius syndrome was mild, with a large variation, but without neurofibromatosis type 1 tumor phenotype. Genetic testing can be beneficial for early diagnosis of Legius syndrome.
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Objective To explore the value of energy spectrum CT in the diagnosis of breast cancer.Methods Thirty-two hospitalized patients whose American Colledge of Radiology (ACR) breast imaging reporting and data system (BI-RADS) scores were 4-5 by mammography received non-enhanced spectral CT scans.The spectrum images,spectrum curve,lesion's size,morphology were observed,and also the pectoralis major muscle and axillary lymph node metastasis were evaluated and compared with mammography.Results Thirty-two patients were confirmed by pathology,including 16 cases of invasive duct carcinomas,1 case of medullary carcinoma,15 cases of lobular carcinomas,and 11 cases of the pectoralis major muscle invaded,9 cases of the axillary lymph nodes metastasis.ACR BI-RADS scores 4 were 23 cases,5 were 9 cases.Axillary lymph node metastasis and primary tumor spectrum curves were basically the same.Energy spectrum CT showed the lesion's shape,size,the relationship with the pectoralis major muscle and axillary lymph node metastasis.In 40-70 keV spectrum curve breast cancer displayed a downward trend.There were no significant differences between energy spectrum CT and mammography for the lesion's shape,edge,internal calcification and thickening of adjacent skin (P ＞ 0.05).While energy spectrum CT exhibited obvious advantages in demonstrating the pectoralis major muscle invaded and axillary lymph node metastasis (P ＜ 0.05).Conclusion Energy spectrum CT imaging displays greater clinical value for diagnosing breast cancer,and it can provide multi-parameter image for supporting clinical practice.
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OBJECTIVE To understand the clinical hospital pathogens and the distribution of spectrum resistance trends in the past four years to control nosocomial infection and provide reasonable basis for therapy.METHODS From 2004 to 2007 the pathogens were isolated,identified and taken drug sensitivity tests.RESULTS During the 4 years,3176 isolates were collected.Gram positive(G+) cocci accounted fro 44.23%,?-hemolytic streptococcus,Staphylococcus aureus,Streptococcus pneumonial,coagulase-negative Staphylococcus and Enterococcus faecalis were the main pathogens.Gram-negative(G-) bacilli accounted for 40.65%,in order were Escherichia coli,Klebsiella pneumoniae,Pseudomonas aeruginosa and Moraxella catarrhalis.Fungi(Candida albicans) accounted for 16.30%.G+ cocci and G-bacilli showed different levels of resistance.Most of G+ cocci were sensitive to vancomycin.The G-bacilli were sensitive to imipenem.CONCLUSIONS Strengthening the monitoring of the clinical pathogenic bacteria and drug resistance is of great significance to control nosocomial infection and treatment.