Objective:By analyzing the norm data results of the Wechsler Adult Intelligence Scale-Fourth Edition (WAIS-Ⅳ) in China,to prove the validity of the procedure and methods during the norming development.Methods:The whole process of the revision of WAIS-Ⅳ,the development of computer-assisted system and norm sampling plan,were introduced in more detail,and the distribution of actual norm data of 1757 cases was analyzed.Results:For area distribution,compared with planned sampling number,the number from North and Northeast China was statistically significant different (x2 =78.02,P ＜0.01).For age stages distribution,most of cases conformed to the requirements of sampling,except that some cases including high-level educational cases aged 16-17 years and above 65 years,and low-level educational cases aged 30-34 years were less than the planned sampling number.For gender distribution,male subjects were more,but there was no statistically significant difference between male and female subjects (x2 =228,P =0.131).For educational degree distribution,the sampling conformed to the requirements of sampling plan (x2 =2.74,P =0.603).For occupation,resident years and registered permanent residence,and the sample was basically representative.Conclusion:The process of the revision of the Chinese version of WAIS-Ⅳ is appropriate,and actual norm sampling basically conforms to planned sample distribution,providing the sufficient representativeness and reliability for national norm data of WAIS-Ⅳ.

Objective To describe the clinical features,diagnosis and treatment of osteomyelitis caused by Burkholderia pseudomallei.Methods Three cases of osteomyelitis caused by B.pseudomallei were treated in Haikou People's Hospital affiliated to Xiangya Medical College of Central South University from April 2007 to April 2017.The clinical data were reviewed and analyzed retrospectively.Relevant reports of osteomyelitis due to B.pseudomallei in China and abroad from 2007 to 2017 were comprehensively reviewed.Results The clinical manifestations included hot feeling,redness,swelling,and pain at site of infection.The infection usually occurred in tibia,femur,and skull bone.There were usually multiple lesions,frequently involving spleen,soft tissue and joints.The main imaging finding was osteomyelitis.The diagnosis was confirmed by bacterial culture in all patients.Antimicrobial therapy combined with surgical intervention was the most common approach in the stage of intensive treatment.Ceftazidime,trimethoprim-sulfamethoxazole and carbapenems were the mostly used antibiotics.However,in the stage of bacterial eradication,trimethoprim-sulfamethoxazole and doxycycline were used.The duration of treatment was very long in both stages.The recurrence was low after standard treatment.Conclusions The osteomyelitis caused by B.pseudomallei lacks specific clinical manifestation.Imaging techniques can identify the site of infection,and bacterial culture helps confirm the diagnosis.Timely and effective antimicrobial therapy combined with surgical intervention can reduce mortality.Full course and standard anti-infective therapy may prevent recurrence.

OBJECTIVE: To explore the clinical and genetic characteristics of a fetus with Melnick-Needles syndrome (MNS). METHODS: A fetus with MNS diagnosed at Ningbo Women and Children's Hospital in November 2020 was selected as the study subject. Clinical data was collected. Pathogenic variant was screened by using trio-whole exome sequencing (trio-WES). Candidate variant was verified by Sanger sequencing. RESULTS: Prenatal ultrasonography of the fetus had shown multiple anomalies including intrauterine growth retardation, bilateral femur curvature, omphalocele, single umbilical artery, and oligohydramnios. Trio-WES revealed that the fetus has harbored hemizygous c.3562G>A (p.A1188T) missense variant of the FLNA gene. Sanger sequencing confirmed that the variant was maternally derived, whilst its father was of a wild type. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be likely pathogenic (PS4+PM2_Supporting+PP3+PP4). CONCLUSION The hemizygous c.3562G>A (p.A1188T) variant of the FLNA gene probably underlay the structural abnormalities in this fetus. Genetic testing can facilitate accurate diagnosis of MNS and provide a basis for genetic counseling for this family.
Child ; Female ; Humans ; Pregnancy ; Abnormalities, Multiple/genetics* ; Fetal Growth Retardation ; Fetus ; Filamins/genetics* ; Genetic Counseling ; Mutation ; Osteochondrodysplasias

Objective To investigate the intellectual characteristics and related factors for patients with mental retardation. Methods 118 patients with mental retardation and 118 normal subjects were assessed with Wechsler Adult Intelligence Scale-fourth edition of Chinese (WAIS-Ⅳ). Results The full intelligence quotient (FIQ), index and scores of subtests were significantly lower in the patients than in the controls (P<0.01), especially for those of working memory and processing speed index. The difference in percentage of significance between verbal comprehension and working memory was higher (P<0.05). The FIQ and some index of patients positively correlated with age, education level and their parents' education level (P<0.01). Conclusion The patients with mental retardation present an overall decline in intelligence,especially in the working memory and processing speed. The mental development is unbalanced in some patients, that the verbal comprehension is relatively better than working memory. The intelligence of patients with mental retardation may be related with their age, education level and their parents' education level.

OBJECTIVETo investigate the high-resolution computed tomographic (HRCT) features of infants with diffuse lung disease (DLD) for improving the diagnostic accuracy clinically.

METHODTotally 75 infants under 2 years of age with DLD (2010-2013) were involved in this study. Among them, 56 were males and 19 females, aged from 2 days to 24 months (mean age was 10.9 months). According to the clinical or pathological data, the cases were enrolled into three groups, including systemic diseases-associated infantile DLD (30 cases), alveolar structure disorders-associated infantile DLD (23 cases), and infantile DLD specific to infancy (22 cases). Retrospectively, HRCT images, from the three groups respectively, were analyzed and compared. HRCT presentations including airway disorders, interstitial disorders and air space disorders were reviewed. Inter-reviewers consistency check was performed, the consistency between reviewers was good (K = 0.64;P = 0.03, < 0.05), as well as χ(2) test.

RESULTAmong the three groups, some of the HRCT sings (bronchiectasis, thickened bronchiolar wall, mosaic sign, reticular, intralobular nodules and consolidations) had significant differences (χ(2) = 24.52, 6.08, 18.00, 12.56, 9.11 and 11.50, P < 0.05) .

CONCLUSIONThe HRCT features of infantile pulmonary DLD/interstitial LD with different causes were as follows, compared to the other two groups, intralobular nodules was the main feature of the systemic diseases-associated infantile DLD, thickened bronchiolar wall, mosaic sign and consolidations were rare as well. Meanwhile, bronchiectasis was more common in alveolar structural disorders-associated infantile DLD, and reticular opacity was rarely seen. Associated clinical data, the HRCT presentations would help clinicians to make accurate diagnosis.

Bronchial Diseases ; diagnostic imaging ; pathology ; Child, Preschool ; Diagnosis, Differential ; Female ; Humans ; Infant ; Infant, Newborn ; Lung ; diagnostic imaging ; pathology ; Lung Diseases, Interstitial ; diagnostic imaging ; pathology ; Male ; Pulmonary Alveoli ; diagnostic imaging ; pathology ; Retrospective Studies ; Tomography, X-Ray Computed ; methods

Objective:To investigate the clinical value of targeted sequencing panel in the detection of genetic variation in neonates in neonatal intensive care unit (NICU).Methods:All neonates (≤28 d of age) admitted in the NICU (case group) and 200 full-term healthy neonates born with no obvious phenotypic abnormalities of Huzhou Maternity and Child Health Care Hospital were enrolled in this prospective study from November 2022 to January 2023. Based on a list of preventable and treatable rare diseases as well as newly screened diseases in China, a targeted sequencing panel suitable for Chinese newborns was designed to target the pathogenic genes and mutation sites associated with 601 genes and 542 diseases. Dried blood spot specimens were prepared and analyzed by the targeted sequencing panel. Pathogenic sites detected by the panel sequencing were verified using Sanger sequencing. The genetic testing results were analyzed according to the clinical features of the neonates. According to the number of primary clinical diagnosis index (including premature infants, neonatal hyperbilirubinemia, hemorrhagic diseases, neonatal infections, ventricular septal defect/patent ductus arteriosus, and others), these patients were divided into four groups with 1, 2, 3, and ≥4 diagnosis index, respectively. Chi-square test and linear correlation Chi-square test were used for statistical analysis. Results:There were 173 patients in the case group and 30.6% (53/173) of them carried pathogenic variants, including 52 positive for pathogenic genes and one with chromosome copy number variant. The positive rate of pathogenic genes was significantly higher in the case group than in the control group [30.1% (52/173) vs. 15.0% (30/200), χ 2=12.26, P<0.001]. Fourteen pathogenic genes were detected in the case group, including FLG, UGT1A1, G6PD, MYH7, AR, ABCC2, ACADS, CYP21A2, GJB2, MEFV, PAH, PKHD1, SCN4A, and HBA. In the case group, the detection rate of pathogenic variants in jaundiced neonates was higher than that in non-jaundiced neonates [35.2% (44/125) vs. 18.8% (9/48), χ 2=4.42, P=0.036]. However, there were no statistically significant differences in the detection rates of pathogenic variants between male and female infants, infants born to mothers of advanced maternal age or not, infants born to mothers with or without gestational diabetes mellitus, premature and term infants, or infants with or without hemorrhagic disorders, neonatal infections, or ventricular septal defects/patent ductus arteriosus in the case group (all P>0.05). The detection rate of pathogenic variants showed a linear increase in infants with 1, 2, 3, and ≥4 diagnosis index [21.1% (8/38), 25.4% (15/59), 38.2% (13/34), and 40.5% (17/42); linear correlation χ 2=4.84, P=0.028]. In the case group, seven genes with a high detection rate of genetic variation (including positive pathogenic genes and carriers) were UGT1A1 [had the highest detection rate, 24.9% (43/173)], GJB2, FLG, DUOX2, ABCA4, G6PD, and MUT. Seven loci with higher mutation frequency were c.211G>A(p.Gly71Arg), c.1091C>T(p.Pro364Leu), c.-41_-40dupTA, and c.686C>A(p.Pro229Gln) in the UGT1A1 gene, c.109G>A(p.Val37Ile) in the GJB2 gene, and c.12064A>T(p.Lys4022Ter) and c.3321del(p.Gly1109GlufsTer13) in the FLG gene. Conclusion:This panel sequencing can provide effective genetic testing for neonates in NICU, especially in children with complex clinical diagnosis.

Intensive care unit acquired muscle weakness (ICU-AW) is a neuromuscular complication secondary to severe illness. The essence for this disease is skeletal muscle dysfunction. With the development of medical technology, the survival rate for severe patients has been significantly improved. The long term complications for the severe patients with ICU-AW are getting more and more common, and they seriously affect the quality of life and prognosis of patients. However, the current treatment is ineffective. Establishment of ICU-AW animal model is an important way to study the pathogenesis and intervention targets for this disease. There are many risk factors for this disease, and the principles for ICU-AW animal models are not the same at home and abroad, and the methods of preparation are different. The choice of a reasonable animal model is important for the reliability of the results.
Animals ; Critical Illness ; Disease Models, Animal ; Humans ; Intensive Care Units ; Muscle Weakness ; etiology ; mortality ; Muscle, Skeletal ; physiopathology ; Prognosis ; Quality of Life ; Reproducibility of Results ; Survival Rate

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.

Coronavirus disease 2019 (COVID-19) is now pandemic worldwide and has heavily overloaded hospitals in Wuhan City, China during the time between late January and February. We reported the clinical features and therapeutic characteristics of moderate COVID-19 cases in Wuhan that were treated via the integration of traditional Chinese medicine (TCM) and Western medicine. We collected electronic medical record (EMR) data, which included the full clinical profiles of patients, from a designated TCM hospital in Wuhan. The structured data of symptoms and drugs from admission notes were obtained through an information extraction process. Other key clinical entities were also confirmed and normalized to obtain information on the diagnosis, clinical treatments, laboratory tests, and outcomes of the patients. A total of 293 COVID-19 inpatient cases, including 207 moderate and 86 (29.3%) severe cases, were included in our research. Among these cases, 238 were discharged, 31 were transferred, and 24 (all severe cases) died in the hospital. Our COVID-19 cases involved elderly patients with advanced ages (57 years on average) and high comorbidity rates (61%). Our results reconfirmed several well-recognized risk factors, such as age, gender (male), and comorbidities, as well as provided novel laboratory indications (e.g., cholesterol) and TCM-specific phenotype markers (e.g., dull tongue) that were relevant to COVID-19 infections and prognosis. In addition to antiviral/antibiotics and standard supportive therapies, TCM herbal prescriptions incorporating 290 distinct herbs were used in 273 (93%) cases. The cases that received TCM treatment had lower death rates than those that did not receive TCM treatment (17/273 = 6.2% vs. 7/20= 35%, P = 0.0004 for all cases; 17/77= 22% vs. 7/9= 77.7%, P = 0.002 for severe cases). The TCM herbal prescriptions used for the treatment of COVID-19 infections mainly consisted of Pericarpium Citri Reticulatae, Radix Scutellariae, Rhizoma Pinellia, and their combinations, which reflected the practical TCM principles (e.g., clearing heat and dampening phlegm). Lastly, 59% of the patients received treatment, including antiviral, antibiotics, and Chinese patent medicine, before admission. This situation might have some effects on symptoms, such as fever and dry cough. By using EMR data, we described the clinical features and therapeutic characteristics of 293 COVID-19 cases treated via the integration of TCM herbal prescriptions and Western medicine. Clinical manifestations and treatments before admission and in the hospital were investigated. Our results preliminarily showed the potential effectiveness of TCM herbal prescriptions and their regularities in COVID-19 treatment.
Adult ; Aged ; Aged, 80 and over ; COVID-19/therapy* ; China ; Combined Modality Therapy ; Drugs, Chinese Herbal/therapeutic use* ; Female ; Hospitalization ; Humans ; Male ; Medicine, Chinese Traditional ; Middle Aged ; Retrospective Studies ; Survival Rate ; Treatment Outcome