OBJECTIVE: To explore the clinical characteristics and genetic basis for a child with X-linked lissencephaly with abnormal genitalia (XLAG). METHODS: A child with XLAG who had presented at the Third Affiliated Hospital of Zhengzhou University in May 2021 was selected as the study subject. Peripheral blood samples of the child and his parents were collected and subjected to high-throughput sequencing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the result was analyzed by using bioinformatic software. RESULTS: The child was found to have harbored a hemizygous c.945_948del variant in exon 2 of the ARX gene, which as a frameshifting variant has resulted in a truncated protein. His mother was found to be heterozygous for the variant, whilst his father was of wild type. The variant was unreported previously. CONCLUSION The hemizygous c.945_948del variant of the ARX gene probably underlay the XLAG in this patient. Above finding has provided a basis for the diagnosis and genetic counseling for this family.
Humans ; Child ; Classical Lissencephalies and Subcortical Band Heterotopias ; Exons ; Computational Biology ; Genetic Counseling ; Genitalia ; Transcription Factors ; Homeodomain Proteins

Depression is a common mental illness in the elderly, which is associated with compromised quality of life, disability, suicide risk and mortality.Drug treatment of late-life depression has large adverse reactions and is prone to drug resistance.Therefore, non-pharmacological interventions have gradually become a research hotspot.This paper reviewed the research progress of non-pharmacological interventions of late-life depression at home and abroad in recent years, and provides a theoretical basis for further research on effective treatment of late-life depression.

Objective:To summarize the clinical manifestations of a case of combined oxidative phosphorylation deficiency 28 (COXPD-28) caused by the mutations of the SLC25A26 gene, thus providing references for the diagnosis and genetic counseling of the disease. Methods:Clinical data of a case of COXPD-28 treated in the Third Affiliated Hospital of Zhengzhou University in October 2020 were retrospectively analyzed.In addition, The retrieval words " Combined oxidative phosphorylation deficiency 28, SLC25A26 gene" were used to search domestic and foreign databases.The clinical characteristics of combined phosphorylation deficiency 28 and the variation characteristics of SLC25A26 gene were summarized. Results:(1) A female patient full-term delivered after 30 min presented with groaning breath was admitted.Her main manifestations included pale complexion, groaning breathing, metabolic acidosis, and high lactate and pyruvate levels.Symptomatic support treatment like anti-infection and assisted ventilation were given, but her condition gradually worsened and died of respiratory and circulatory failure on the day of admission.The child was compound heterozygous mutation of SLC25A26 gene, the terminating mutation of exon 5 c. 403G>T caused the protein change to p. E135, and the non-synonymous mutation of exon 4 c. 212A>G caused the protein change to p. Y71C.(2) A total of 3 cases of COXPD-28 were searched in online databases, and no cases were reported in China.Through literature review, clinical features of COXPD-28 mainly included respiratory and circulatory fai-lure, elevations of lactate and pyruvate, and reductions of complexes Ⅰ, Ⅲ and Ⅳ in muscle biopsy.Two types of mutations in the SLC25A26 gene were detected, including 3 cases of missense mutations and 1 case of splicing mutation. Conclusions:COXPD-28 is an autosomal recessive genetic disease involving multiple systems and mitochondrial dysfunction.Mutations in the SLC25A26 gene is the pathological cause of COXPD-28.

Objective:To study the clinical features, diagnosis and treatment of Bacillus cereus sepsis in premature infants.Methods:From February 2011 to February 2021, 10 cases of Bacillus cereus sepsis in premature infants admitted to the Department of Neonatology of our hospital were retrospectively analyzed.Results:The 10 cases of premature infants with Bacillus cereus sepsis included 5 males and 5 females, with gestational age 27 +2~35 +2 weeks, birth weight 940~2 430 g and the age of onset 7~35 days. At the beginning, all the infants showed lethargy and recurrent apnea as the onset symptoms. 8 cases had gray color skin, 7 cases had fever, 7 cases experienced septic shock, 5 cases had neonatal seizures and 4 cases showed abdominal distension. 7 cases were complicated with purulent meningitis and 3 cases with necrotizing enterocolitis. 9 cases had significantly decreased white blood cells and platelets and significantly increased C-reactive protein and procalcitonin at the onset. Among the 7 cases of purulent meningitis, 5 cases had multiple encephalomalacia. During follow-up of all the infants, 4 cases died, 3 cases cured and 3 cases survived with severe neurological sequelae. Conclusions:Bacillus cereus sepsis is a serious infectious disease for premature infants with acute onset, rapid progress and high mortality. Complication of purulent meningitis and serious neurological sequelae are common.

Objective:To investigate the knowledge, attitudes, and practices (KAP) of pulse oximetry among pediatric healthcare providers in China and analyze the factor influencing the KAP.Methods:A self-developed questionnaire was used for an online research on the KAP of 11 849 pediatric healthcare providers from 31 provinces, autonomous regions, and municipalities of China from March 11 to 14, 2022.The factors influencing the KAP of pulse oximetry among pediatric healthcare providers were examined by Logistic regression. Results:The scores of KAP, of pulse oximetry were 5.57±0.96, 11.24±1.25 and 11.19±4.54, respectively.The corresponding scoring rates were 69.61%, 74.95%, and 55.99%, respectively. Logistic regression results showed that the gender and working years of pediatric healthcare providers, the region they were located, and whether their medical institution was equipped with pulse oximeters were the main factors affecting the knowledge score (all P<0.05). Main factors influencing the attitude score of pediatric healthcare providers included their knowledge score, gender, educational background, working years, region, medical institution level, and whether the medical institution was equipped with pulse oximeters (all P<0.05). For the practice score, the main influencing factors were the knowledge score, gender, age, and whether the medi-cal institution was equipped with pulse oximeters (all P<0.05). Conclusions:Chinese pediatric healthcare providers need to further improve their knowledge about and attitudes towards pulse oximetry.Pulse oximeters are evidently under-used.It is urgent to formulate policies or guidelines, strengthen education and training, improve knowledge and attitudes, equip more institutions with pulse oximeters, and popularize their application in medical institutions.

Objective:To analyze the risk factors of bronchopulmonary dysplasia(BPD)in very preterm infants(VPI), and to provide scientific basis for the prevention and treatment of BPD in VPI.Methods:A prospective multicenter study was designed to collect the clinical data of VPI in department of neonatology of 28 hospitals in 7 regions from September 2019 to December 2020.According to the continuous oxygen dependence at 28 days after birth, VPI were divided into non BPD group and BPD group, and the risk factors of BPD in VPI were analyzed.Results:A total of 2 514 cases of VPI including 1 364 cases without BPD and 1 150 cases with BPD were enrolled.The incidence of BPD was 45.7%.The smaller the gestational age and weight, the higher the incidence of BPD( P<0.001). Compared with non BPD group, the average birth age, weight and cesarean section rate in BPD group were lower, and the incidence of male infants, small for gestational age and 5-minute apgar score≤7 were higher( P<0.01). In BPD group, the incidences of neonatal respiratory distress syndrome(NRDS), hemodynamically significant patent ductus arteriosus, retinopathy of prematurity, feeding intolerance, extrauterine growth restriction, grade Ⅲ~Ⅳ intracranial hemorrhage, anemia, early-onset and late-onset sepsis, nosocomial infection, parenteral nutrition-associated cholestasis were higher( P<0.05), the use of pulmonary surfactant(PS), postnatal hormone exposure, anemia and blood transfusion were also higher, and the time of invasive and non-invasive mechanical ventilation, oxygen use and total hospital stay were longer( P<0.001). The time of starting enteral nutrition, cumulative fasting days, days of reaching total enteral nutrition, days of continuous parenteral nutrition, days of reaching 110 kcal/(kg·d) total calorie, days of reaching 110 kcal/(kg·d) oral calorie were longer and the breastfeeding rate was lower in BPD group than those in non BPD group( P<0.001). The cumulative doses of amino acid and fat emulsion during the first week of hospitalization were higher in BPD group( P<0.001). Multivariate Logistic regression analysis showed that NRDS, invasive mechanical ventilation, age of reaching total enteral nutrition, anemia and blood transfusion were the independent risk factors for BPD in VPI, and older gestational age was the protective factor for BPD. Conclusion:Strengthening perinatal management, avoiding premature delivery and severe NRDS, shortening the time of invasive mechanical ventilation, paying attention to enteral nutrition management, reaching whole intestinal feeding as soon as possible, and strictly mastering the indications of blood transfusion are very important to reduce the incidence of BPD in VPI.

Objective:To compare the results of three detection methods, single antigen-bead assay(SAB), Luminex screening assay(LMX), and ELISA assay for detecting HLA antibody, and compares the two screening methods, LMX and ELISA with SAB detection as a reference method to provide a reference for organ transplantation laboratories to choose a reasonable HLA antibody test strategy.Methods:A lot of 124 consecutive samples were tested using SAB, ELISA, and LMX methods at the same time, and analyze the differences of these results. SAB testing was used as a reference method to analyze the sensitivity and specificity of the two screening assays. Chi-square analysis was used to compare the two methods, and P<0.05 was considered statistically significant. Results:Both ELISA and LMX methods showed low sensitivity of 34.4% and 31.3% for HLA class I, and 29.7% and 51.3% for class Ⅱ. Otherwise, the specificity of the ELISA and LMX method was much higher. For class, I both was 98.9%, and for class Ⅱ were 100% and 91.9% respectively. Out of 124 samples, the number of SAB(+ )ELISA(-)LMX(-) results was 17, and SAB(-)ELISA(+ )LMX(+ ) results was zero indicating that there were considerably screening assays probably with missed detection. In the cases of SAB(+ )ELISA(-)LMX(-), the distribution of MFI value of SAB assay ranges from 750 to 7000.Conclusions:Because the sensitivity of the two screening methods is relatively low, there is a greater risk of missed antibody detection in the scheme of testing for specific antibodies after the screening test is positive. This should be paid attention to, especially for patients with a history of sensitization. For negative screening test results, SAB or other assays should be considered to check the result. It could provide more accurate results when SAB which is recognized as higher sensitivity and specificity is directly used as an initial test. At the same time, the MFI value of the SAB test can serve as an indicator to determine whether to add other assays to check the ASB result.

The Wilderness Medical Society updated and published the Wilderness Medical Society practice guidelines for the prevention and treatment of frostbite in July 2019. The guidelines provide evidence-based recommendations for the prevention and treatment of frostbite, mainly including pathophysiology, classification, prevention, and treatment of frostbite. This paper focuses on the interpretation of the guidelines, aiming at making clinical medical staff understand the new progress of frostbite treatment and providing reference for clinical practice.

Objective To compare the differences of different endovascular treatment strategies for intracranial aneurysms in radiation dose, operation time, and fluoroscopy time. Methods From April 2011 to September 2016, patients with intracranial aneurysm who underwent endovascular treatment in the Department of Neurosurgery, Shangluo Central Hospital were enrolled retrospectively. According to different endovascular treatment strategies, they were divided into exclusive coil embolization (COIL) group, balloon- assisted coiling (BAC) group, stent-assisted coiling (SAC) group, and flow diverting technology (FDT)group. The demographic and aneurysm data were collected, and the related evaluation indicators were tested and compared. Results A total of 119 patients with intracranial aneurysm received endovascular treatment were enrolled, 41 in COLI group, 32 in BAC group, 30 in SAC group, and 16 in FDT group. There were no significant differences in gender, age, and maximum diameter of aneurysms among the 4 groups. There were significant differences in the shape and location of aneurysms (all P < 0. 05 ). The operation time,fluoroscopy time and radiation dose in the SAC group were the longest or largest, and the difference was statistically significant compared with the other 3 groups (all P < 0. 05). However, there were no significant differences among the other 3 groups. Three months of follow-up showed no adverse reactions of skin erythema or hair loss in all patients. Conclusion In various endovascular treatment techniques, SAC has the longest operation time and fluoroscopy time, and the radiation dose is the highest, so attention should be paidto radiation safety when selecting this method.

Objective To study the relationship of serum 25-hydroxy vitamin D [25-(OH) D] and vitamin D binding protein (DBP) in premature infants with bronchopulmonary dysplasia (BPD) and their clinical significance.Method From March 2017 to September 2018,the premature infants with gestational age (GA)＜32 weeks admitted to the neonatal department of our hospital were prospectively studied.All the premature infants were given 800 IU/d vitamin D supplement from one week after birth.Venous blood sample were collected at birth and 28 d after birth to measure 25-(OH) D aud DBP levels.The infants were evaluated for BPD at 28 d after birth and then assigned into the BPD group and the non-BPD group.The differences of 25-(OH) D and DBP levels were compared.Result A total of 170 premature infants (GA＜32 weeks) were included,including 56 cases in the BPD group and 114 cases in the non-BPD group.The BPD group had 34 males,the GA was (29.8±1.2) weeks,the birth weight (BW) was (1 198± 157) g.The non-BPD group had 95 males,the GA was (30.2± 1.5) weeks,the BW was (1 243± 146) g.No significant differences existed in GA,BW and male gender proportion between BPD group and non-BPD group (P＞0.05).The BPD group had a lower levels of serum 25-(OH) D at birth [(27.8±5.9) nmol/L vs.(30.4±1.1) nmol/L,P＜0.05].The levels of serum 25-(OH) D in moderate/severe BPD group were significantly lower than mild BPD group [(25.3±4.9) nmol/L vs.(29.7±5.9) nmol/L,P＜0.05];25-(OH) D in BPD group was still lower than the non-BPD group at 28 days after birth (after vitamin D supplement) [(77.5±11.7) nmol/L vs.(83.8±11.6) nmol/L,P＜0.05].Comparison of serum DBP levels between the two groups showed that,DBP at 28 d after birth in BPD group were significantly lower than the non-BPD group,and DBP in moderate/severe BPD group were significantly lower than the mild BPD group [(373.9± 19.1) μg/ml vs.(391.4±23.6) μg/ml],the differences were both statistically significant (P＜0.05).Multivariate analysis showed that the high serum 25-(OH)D level at birth (OR=0.827,95％CI0.693～0.987) was protective factors for BPD,while neonatal pneumonia (OR=4.331,95％CI 1.269～14.784) and neonatal sepsis (OR=4.020,95％CI 1.153～14.015) were risk factors for BPD.Conclusion The high serum 25-(OH) D level at birth in preterm infants was protective factors for BPD,while neonatal pneumonia and sepsis were the risk factors for BPD.Moreover,low serum 25-(OH) D level at birth and low serum DBP level at 28 d after birth maybe useful indicators for the severity of BPD.