Objective To discuss the clinical application of percutaneous radiologic gastrostomy (PRG) in treating dysphagia associated with amyotrophic lateral sclerosis (ALS),and to evaluate its safety and improvement effect on patient's nutritional status in ALS patients with pulmonary insufficiency.Methods The clinical data of 51 ALS patients who received PRG were retrospectively analyzed.The success rate of surgery and postoperative complications were recorded.All patients were regularly followed up,and the longterm complications as well as the one-,3-and 6-month mortality rates after the surgery were documented.The improvement of patient's nutritional status was evaluated.Results PRG was successfully accomplished in all 51 patients,the technical success rate was 100％.Mild postoperative complications occurred in 7 patients (13.73％) and severe massive hemorrhage in one patient (2.0％).After PRG,no signs or symptoms of impaired respiratory function were observed.No death occurred in one month and in 3 months after PRG.Six months after PRG,three patients died(6.8 ％,3/44).One month after PRG,31 patients had an increase in body weight of more than 1 kg,and the mean BMI was increased from preoperative t8.60±2.14 to postoperative 19.27±1.81 (one month after PRG),19.17±1.93 (3 month after PRG) and 18.89±2.33 (6 month after PRG).Conclusion For the performance of PRG no gastroscopy or anesthesia is needed,thus,the risk of aspiration asphyxia can be reduced in ALS patients complicated by pulmonary insufficiency and the success rate as well as the safety can be improved.Therefore,this technique is an effective means to ensure that the ALS patients with pulmonary insufficiency can get adequate energy intake to improve their nutritional status.

Objective:To describe the status and influencing factors of nurse-related empowerment perception in inpatients with chronic diseases.Methods:Totally 586 inpatients with chronic diseases from 6 class A hospitals in Shanghai from November 2019 to September 2020 were investigated by the Chinese version of Patient Perception of Patient-empowering Nurses Behaviors (PPPNBS), Self-Efficacy of Chronic Diseases (SECD6), Nurse-patient Trust Scale (NPTS), Chinese version of Chronic Illness Resource Survey (CV-CIRS) and a general information questionnaire which was designed by researchers.Results:The total score of PPPNBS was (134.98 ± 59.60) points, and the average score for each item was (6.14 ± 2.71) points. The total score of SECD6 was (38.81 ± 9.28) points. The total score of NPTS was (141.94 ± 11.42) points, and the total score of CV-CIRS was (57.90 ± 15.24) points, which were positively correlated with empowerment perception through Pearson correlation analysis. Multiple Linear Regression showed that the degree of education, the number of forms and compliance of health education, the times of admission, participation intention in medical decision-making, the dimension of Symptom Management in Self-efficacy, three dimensions of consistency, respect, and confidence in knowledge and technology in Nurse-Patient Trust degree and four dimensions of medical staff support, organization support, family and friends support, media and government support in Chronic Illness Resource were influencing factors of patients ′ empowerment perception (adjusted R 2 value was 0.636, F value was 79.441, P<0.01). Conclusions:Compared with the foreign level, the perception of nurses ′ empowerment of inpatients with chronic diseases is at a lower level, and self-efficacy, nurse-patient trust and chronic disease resource support are all at a medium level, which still need to be improved. Nurses should allow them to participate in their treatment, improve the control of life and reduce their anxiety.

Objective:To investigate the clinical phenotypes, therapy and genetic features of aldehyde dehydrogenase 7 family member A1 (ALDH7A1) gene mutations in five cases of pyridoxine dependent epilepsy (PDE) with diagnosis confirmed by next generation sequencing.Methods:Retrospective analysis was carried out on clinical data of five cases of PDE children with early epilepsy onset who were treated in the Department of Neurology of Children′s Hospital Affiliated to Zhengzhou University from February 2018 to November 2019. Next generation sequencing approach was used for genetic sequencing of proband ALDH7A1 gene and the first generation Sanger was used for validation of family members. And the characteristics of gene mutations were analyzed.Results:Among the five children diagnosed with PDE, the male to female ratio was 4 ∶ 1 and ages at clinic visit ranged from two months to 10 months old. In clinical phenotypes, all five cases experienced onset in neonatal period, with repeated seizures, manifested as myoclonus, spasms or focal paroxysm. The administration of antiepileptic drugs performed poorly in seizure control while long term oral intake of large dose pyridoxine showed better efficacy. All the five cases of children came from compound heterozygous mutations of father and mother, i.e. slicing homozygous mutation c.247-2(IVS2)A>T, missense mutation c.584A>G (p.N195S) and nonsense mutation c.1003C>T(p.R335 *), missense mutation c.1553G>C(p.R518T) and c.1547A>G(p.Y516C), missense mutation c.1547A>G(p.Y516C) and frameshift mutation c.1566_1568delTAC, missense mutation c.1061A>G(p.Y354C) and nonsense mutation c.841C>T(p.Q281X, 259), among which c.247-2(IVS2)A>T was novel splicing site mutation not reported before. Conclusions:PDE is induced by ALDH7A gene mutation. Early clinical manifestations are mostly onset of refractory epilepsy in neonatal period. Antiepileptic drugs perform poorly in terms of efficacy while pyridoxine can control seizure effectively. Gene analysis should be conducted on such patients for confirmed diagnosis.

Objective:To explore the value of immediate bedside blood culture in the adjustment of antibiotics for children with bloodstream infections in pediatric intensive care units(PICU).Methods:Retrospective analysis of children in PICU at Henan Children′s Hospital from May 2017 to March 2021 was conducted.The cases were divided into laboratory blood culture(LBC) group and satellite blood culture(SBC) group according to different blood culture methods.The difference in the time to blood culture incubation, time to blood culture positivity, microbial results time and antibiotic adjustment time were compared between two groups.Results:A total of 3 720 blood cultures were completed in 2 718 children, including 1 888 in LBC group and 1 832 in SBC group, with a positive rate of 3.5% in LBC group and 4.9% in SBC group, and a significantly higher positive rate in SBC group compared to LBC group( χ2=3.954, P=0.046). The differences in age, sex, site of infection, survival rate at 28 d after discharge, pediatric critical illness score, and pediatric risk of mortality Ⅲ score between LBC group and SBC group with positive blood cultures were not statistically significant ( P>0.05). Children in SBC group had significantly shorter specimen receipt time, time to obtain microbiological results, and antibiotic adjustment time than those in LBC group[0.33(0.03, 1.78) h vs. 3.38(1.38, 7.29) h, (57.40±21.92) h vs. (68.14±21.26) h, and (52.53±27.23) h vs. (66.41±28.57) h, all P<0.05]. Conclusion:Immediate bedside blood culture shortens the time from culture to final result reporting, increases the positive rate of blood culture, and saves time on accurate antibiotic treatment for critically ill children.

Objective:To analyze the clinical characteristics of children aged two years old and above with respiratory syncytial virus (RSV) infection in pediatric intensive care unit (PICU).Methods:Children who had RSV infection admitted to PICU at Children′s Hospital of Zhengzhou University from March 2019 to December 2021 were divided into older age group(≥two years old) and younger age group(0.05); In younger age group, there were 132(64.8%) cases of fever and 125(64.8%) cases of wheezing; In older age group, there were 31(93.9%) cases of fever and 13(39.4%) cases of wheezing; the incidence of fever was higher in older age group than that in younger age group( χ2=9.147, P<0.05), and the incidence of wheezing was lower than that in younger age group( χ2=7.631, P<0.05), and the differences were statistically significant.(2) There were 15 (45.5%) cases of simple infection and 18 (54.5%) cases of mixed infection in older age group, and the P/F was significantly different between children with simple infection and those with mixed infection ( P<0.05); there were 14 (42.4%) cases of combined underlying diseases and 19 (57.6%) cases without underlying diseases, and the length of stay in PICU was different between children with combined underlying diseases and those without underlying diseases ( P<0.05), and there was no significant difference in mechanical ventilation or total length of stay ( P>0.05). Conclusion:RSV infection in children aged two years old and above in PICU occurres mostly between two and six years of age, with a relatively low incidence of wheezing and common fever; RSV infection alone may have a greater impact on oxygenation, and combined underlying diseases can affect the length of stay in PICU.

Objective:To investigate the clinical manifestation, genetic characteristics, treatment and prognosis of Crouzon-like syndrome.Methods:Clinical data of one case of Crouzon-like syndrome diagnosed in Children′s Hospital Affiliated to Zhengzhou University in May 2019 were collected, including clinical test, treatment plan, follow-up outcomes. The clinical characteristics and the mutation characteristics of IL11RA-related Crouzon-like syndrome were analyzed combined with the literature.Results:The male proband, five years and four months old, was admitted with the main clinical manifestations including headache, vomiting, exophthalmos, ocular hypertelorism, nasal root flat and scaphocephaly. CT showed that the cerebellar tonsil moved down slightly, the occipital magnum was full, the bilateral cranial plates were locally thinner, the bilateral cranial diameters were increased, and the cranial seams were closed. Magnetic resonance imaging showed ChiariⅠmalformation. The mutation c.40_63del and splice site mutation c.811-2A>G of the patient′s IL11RA gene were screened by whole exome sequencing. Sanger sequencing showed that the mutations are compound heterozygous and both are first reported. The mutation c.811-2A>G was derived from the patient′s mother, and the other one is de novo.Conclusions:The main clinical manifestations of Crouzon-like syndrome are craniosynostosis and midface hypoplasia and ocular deformity. The study identified two novel mutations in the Crouzon-like syndrome related IL11RA gene. Genetic sequencing is helpful for accurate diagnosis and timely surgical treatment.

Objective:To investigate the clinical phenotype and genotype of a male case of subcortical band heterotopia caused by mosaic mutation of DCX gene.Methods:The clinical data and magnetic resonance imaging (MRI) features of a male case of subcortical band heterotopia diagnosed in the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University in August 2020 were analyzed retrospectively. At the same time, the whole exon sequencing of the families was performed by next generation sequencing method, the suspicious mutation was verified by polymerase chain reaction Sanger sequencing, and their genetic mutation characteristics were analyzed.Results:The proband, one male, aged 5 years and 1 month, was hospitalized in August 2020 with the complaint of intermittent convulsions for 4 years and six months. Clinical features included that limb muscle tension was slightly high, intellectual and motor development was backward, and head circumference was 48 cm. MRI of his head showed diffuse thick subcortical band heterotopia. The detection of whole exon sequencing in his family showed that there was hemizygous mosaic mutation in DCX gene (mosaic ratio 44%), c.148A>G (p.k50E). The mosaic ratios of oral mucosa and urinalysis were 38.2% and 44.8% respectively. His parents were wild-type, The mutation found in this patient has not been reported at home and abroad.Conclusions:The mosaic variation of DCX gene can cause subcortical band heterotopia in males. The variation of DCX gene c.148A>G (p.k50E) may be the possible cause of the proband, which expands the variation spectrum of subcortical band heterotopia.

OBJECTIVE: To analyze the clinical characteristics and pathogenic gene in a Chinese pedigree affected with mitochondrial DNA depletion syndrome 8A (MTDPS8A). METHODS: Whole exome sequencing was carried out for the patient. Sanger sequencing was used to verify the results, and PolyPhen-2 and PROVEAN software were used to predict the impact of amino acid changes on the function of the protein. RESULTS: The patient, a two-month-old female, was admitted to the hospital for poor milk intake and poor mental response. Her clinical manifestations included feeding difficulty, shortness of breath and low muscle tone. Auxiliary laboratory test indicated that the infant was underdeveloped with abnormal liver, kidney, and heart functions accompanied by hyperlacticacidemia. She responded poorly to treatment and eventually died. Sequencing revealed that the child has carried compound heterozygous missense variants of the RRM2B gene, namely c.16delA (p.R6Gfs*22) and c.175G>C (p.A59P), which were respectively inherited from her father and mother, and both were newly discovered pathologic variants. CONCLUSION The c.16delA and c.175G>C compound heterozygous variants of the RRM2B gene probably underlay the pathogenesis of MTDPS8A. Above finding has strengthened the understanding of the clinical feature and genetic etiology of this disease and expanded the mutation spectrum of the RRM2B gene.
Cell Cycle Proteins ; Child ; China ; DNA, Mitochondrial/genetics* ; Female ; Genetic Testing ; Humans ; Infant ; Mutation ; Pedigree ; Ribonucleotide Reductases ; Whole Exome Sequencing

OBJECTIVE: To conduct clinical and genetic analysis of two male patients with atypical Rett syndrome. METHODS: Collection of clinical data in the two patients and these parents; whole exome sequencing (WES) was used to detect the potential variants, which were verified by Sanger sequencing. X chromosome inactivation (XCI) detection is performed in the Patient 1's mother to detect the allelic expression difference of the MECP2 gene. RESULTS: Patient 1, a 5-year and 10-month-old boy, had mental disorders and mild intellectual disability (ID) (IQ: 54), whose mother had ID. Patient 2 was a 9-month and 18-day-old male presented with recurrent infections, respiratory insufficiency, hypotonia and global developmental delay. WES indentified a hemizygous mutation, c.499C>T (p.R167W), in the MECP2 gene in patient 1, which was inherited from his mother. The inactivation of X chromosome is skewed, and the expression ratio of wild-type and mutant MECP2 is 100%:0. Patient 2 was found a de novo splicing mutation, c.62+2_62+3del in the MECP2 gene. They were both reported pathogenic variant related to Rett syndrome. c.499C>T (p.R167W) was defined as likely pathogenic (PS1+PM2+PP3) and c.62+2_62+3del was pathogenic (PVS1+PM2+PM6) based on American College of Medical Genetics and Genomics standards and guidelines. CONCLUSION Both the two patients were diagnosed with rare male Rett syndrome, which had atypical clinical manifestations and large difference. Above foundings have revealed novel phenotypes in Chinese male patients with Rett syndrome.
Craniosynostoses ; Female ; Genetic Testing ; Humans ; Intellectual Disability/genetics* ; Male ; Methyl-CpG-Binding Protein 2/genetics* ; Mutation ; Phenotype ; Rett Syndrome/genetics*

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.