Objective To explore the influence of nursing intervention on the social support and compliance of parents of severe β-Mediterranean anemia children. Methods A total of 100 cases of Mediterranean anemia children’s parents were surveyed with the Social Support Rating Scale (SSRS) and self-made compliance questionnaires, the investigation was performed before the intervention,6 months, 1 year after the intervention. Results The scores of objective support, subjective support and supporting availability after the intervention were all higher than those before intervention (F=269.04, 125.12, 243.04, all P<0.01). In the pairwise comparison tests, the ranks of objective support score and subjective support score were:1 year after intervention>6 months after intervention>before intervention (P<0.01);the score of supporting availability was lower than the scores of 6 months and 1 year after intervention (P<0.01). The compliance of blood transfusion on time and taking deferoxamine on time before and after the interventions had statistical meanings (Hc=100.40,70.53, all P<0.01). In the pairwise comparison tests, the compliance score before intervention was lower than the score after intervention (P < 0.01). Conclusions Nursing intervention can improve the social support and compliance of the parents with severe Mediterranean anemia children.

OBJECTIVETo study improvement of detection of paternally herited fetal mutant genes for β-globin in maternal plasma by PNA clamp to seek a noninvasive prenatal diagnostic method for β-thalassemia.

METHODSA total of 38 maternal blood samples were collected at 7 to 20 weeks of gestation, samples in which the father carried CD41-42 mutation and mother carried normal gene or the other point mutation for β-thalassemia were examined. The results of fetal DNA in amniotic fluid, cord blood or peripheral blood of newborns were used as the gold standard for comparison. In the study group, the total cell-free DNA was extracted from maternal plasma using QIAamp DNA Blood Mini Kit. After extraction, the total cell-free DNA was separated by agarose gel (1%) electrophoresis, and the cell-free DNA with a size of 100-300 bp was retrieved from the gel slice. Then, the retrieved DNA-free cell underwent PCR amplified with a PNA clamp. The genotype was confirmed by the conventional method (reverse dot blot hybridization), and the results were compared to gold standard. Simultaneously, two control groups with different PCR procedures were set up. The PCR procedure of control group A was amplified with the extracted total cell-free DNA and PNA clamp, and the PCR procedure of control group B was amplified with the retrieved size-fractionated DNA-free cell without PNA clamp.

RESULTSPlasma samples from 38 pregnant women were detected using PCR products for hybridization, the results were compared with the gold standard. Regarding the 21 samples confirmed by gold standard with fetal genotype 41-42M/N, 19, 8, 12 cases were detected as fetal genotype 41-42M in study group, control group A and control group B respectively, the sensitivity was 90.5% (19/21), 38.1% (8/21) and 57.1% (12/21) respectively;Concerning the 17 samples confirmed by gold standard with fetal normal genotype, the amount of false positive cases were 1, 2 and 1 respectively. The respective specificity was 94.1% (16/17), 94.1% (16/17) and 88.2% (15/17) respectively. The respective accuracies were 92.1% (35/38), 63.2% (24/38) and 71.1% (27/38) respectively. The difference in sensitivity and specificity was pairwise compared by means of McNemar's test. There was significant difference between new study group and control group A or control group B (all P﹤0.05).

CONCLUSIONThe method of detection of paternally inherited fetal mutation genes for β-thalassemia using small size of fetal DNA-free cell in maternal plasma with PNA clamp had several advantages of reliable sensitivity, specificity and accuracy, indicating its potential of clinical practicality.

Adolescent ; Adult ; DNA ; blood ; Female ; Humans ; Inheritance Patterns ; Mutant Proteins ; genetics ; Mutation ; Peptide Nucleic Acids ; Pregnancy ; Prenatal Diagnosis ; Young Adult ; beta-Globins ; genetics ; beta-Thalassemia ; diagnosis ; genetics

INTRODUCTIONWe report a case of neurogenic pulmonary oedema (NPO) following massive left cerebral infarct, which was initially misdiagnosed as acute myocardial infarction (AMI).

CLINICAL PICTUREThis 52-year-old man presented with acute loss of consciousness with normal brain computed tomography (CT). He was treated as non-ST-elevation AMI complicated with pulmonary oedema based on findings of chest radiograph (bilateral pulmonary oedema), electrocardiogram (marked ST-T changes in leads V3 to V6), and cardiac enzymes [elevated creatinine kinase (CK) and CK-MB]. However, coronary angiogram and serial cardiac enzymes were inconclusive. Anisocoria developed after admission and a repeat brain CT was evident for large left cerebral infarct.

TREATMENTDecompressive craniectomy was carried out.

OUTCOMEMortality.

CONCLUSIONSThe diagnosis of NPO can be challenging when it occurs without abnormal findings on preliminary brain CT. It can be mistaken for cardiogenic pulmonary oedema secondary to AMI.

Cerebral Infarction ; physiopathology ; Coma ; Diagnosis, Differential ; Diagnostic Errors ; Humans ; Male ; Middle Aged ; Myocardial Infarction ; diagnosis ; Pulmonary Edema ; diagnosis ; physiopathology ; Radiography, Thoracic ; Taiwan

OBJECTIVE: The aim of this study was to determine changes in behaviour among patients with attention deficit/hyperactivity disorder (ADHD) by different informants during treatment in the clinical setting. METHODS: Seventy-nine patients with ADHD were recruited. They completed 12-months of treatment with oral short-acting methylphenidate, two-to-three times per day, at a dose of 0.3-1.0 mg/kg. Among the 79 patients (mean age, 9.1+/-1.9 years), 39 were classified as the ADHD-C/H type (hyperactive-impulsive type and combined type) and 40 as the ADHD-I type (inattentive type). At baseline, and after 12 months, their behaviour was assessed using the Child Behaviour Checklist (CBCL), Teacher's Report Form (TRF), ADHD Rating Scale (ADHD-RS), and Clinical Global Impression-Severity (CGI-S). RESULTS: Patients classified as the ADHD-C/H type had higher scores on three CBCL subscales, on the ADHD-RS and CGI-S compared to the ADHD-I type patients. After 12-months of treatment, for all patients, there were significant improvements in the four subscales of the TRF as well as the ADHD-RS and CGI-S scores, but not on the CBCL. In addition, the patients with the ADHD-C/H type had greater improvements on the four subscales of the TRF after treatment. However, there were no differences noted on the CBCL, ADHD-RS and CGI-S. CONCLUSION: The results of this study showed that during treatment, in the clinical setting, there are different assessments of behaviour symptoms, associated with ADHD, reported by different informants. Assessments of behaviour profiles from multiple informants are crucial for establishing a fuller picture of patients with ADHD.
Checklist ; Child ; Humans ; Methylphenidate ; Parents

In recent years, it has become increasingly apparent that noncoding RNAs (ncRNA) are of crucial importance for human cancer. The functional relevance of ncRNAs is particularly evident for microRNAs (miRNAs) and long noncoding RNAs (lncRNAs). miRNAs are endogenously expressed small RNA sequences that act as post-transcriptional regulators of gene expression and have been extensively studied for their roles in cancers, whereas lncRNAs are emerging as important players in the cancer paradigm in recent years. These noncoding genes are often aberrantly expressed in a variety of human cancers. However, the biological functions of most ncRNAs remain largely unknown. Recently, evidence has begun to accumulate describing how ncRNAs are dysregulated in cancer and cancer stem cells, a subset of cancer cells harboring self-renewal and differentiation capacities. These studies provide insight into the functional roles that ncRNAs play in tumor initiation, progression, and resistance to therapies, and they suggest ncRNAs as attractive therapeutic targets and potentially useful diagnostic tools.
Gene Expression Regulation, Neoplastic ; Humans ; MicroRNAs ; genetics ; metabolism ; Neoplasms ; genetics ; metabolism ; pathology ; therapy ; Neoplastic Stem Cells ; metabolism ; RNA, Long Noncoding ; genetics ; metabolism ; RNA, Untranslated ; genetics ; metabolism

Objective: The Schizophrenia Cognition Rating Scale (SCoRS) is an interview-based assessment tool for evaluating the cognitive deficit and daily functioning of patients with schizophrenia. Methods: Sixty-eight patients with schizophrenia and 68 age- and sex-matched healthy individuals were recruited to validate the Chinese version of SCoRS in this study. All participants underwent cognitive assessment using the SCoRS, which was verified by the Brief Assessment of Cognition in Schizophrenia (BACS), and the UCSD Performance-based Skills Assessment, Brief Version (UPSA-B). Patients with schizophrenia were additionally assessed using the Positive and Negative Syndrome Scale (PANSS). Results: SCoRS ratings reported by patients (SCoRS-S), those reported by the interviewer (SCoRS-I), and SCoRS global scores (SCoRS-G) showed significant correlation with all subscales of the BACS and the UPSA-B. On receiver operating characteristic curve analysis, SCoRS-S, SCoRS-I, and SCoRS-G significantly differentiated patients with schizophrenia from healthy controls. Moreover, SCoRS-S and SCoRS-I ratings showed positive correlation with the negative symptoms and general symptoms of PANSS. Conclusion The Chinese version of SCoRS showed good discriminant, concurrent, and external validity, suggesting that it is a useful and convenient tool for assessment of cognitive function among Mandarin-speaking patients with schizophrenia in clinical practice.

Objective:To analyze the research hotspot and frontier of severe coronavirus disease 2019 (COVID-19) in China and abroad.Methods:The CiteSpace software was used to visually analyze the relevant research of severe COVID-19 published by CNKI and Web of Science databases from January 30th to April 20th in 2020. The analysis content included the author of the literature, the publishing institutions, and high-frequency keywords.Results:There were 389 Chinese literatures and 59 English literatures included. Analysis using CiteSpace software showed that there were four large teams in China currently concerning about the research on severe COVID-19. The co-authoring of each team was relatively close, but the teams were lack of cooperation. The main issuing institutions were affiliated hospitals of colleges and universities, but colleges and enterprises had less participation. The authors of English-language publications mainly had five research teams, some of whom had co-authored relationships. The country with the most enormous volume of English-language publications was China, followed by the United States and Canada. The Chinese keyword co-occurrence, clustering and highlighted words analysis showed that the main research areas of severe COVID-19 included clinical features, traditional Chinese medicine treatment, medical imaging, integrated traditional Chinese and Western medicine treatment and so on; nucleic acid detection, clinical features and diagnosis, plague theory and etiology mechanism, traditional Chinese medicine and integrated Chinese and Western medicine treatment, severe COVID-19 combined with diabetes and prognosis research will become future research trends; keyword cluster analysis showed that severe COVID-19, combined chronic underlying diseases, CT imaging characteristics will also become new trends in the field of research. Co-occurrence analysis of keywords in English literatures showed that the main research areas of severe COVID-19 included the names of novel coronavirus, pandemic diseases, infectious diseases, medical supplies distribution, and indicators related to myocardial damage.Conclusions:Researchers in China and abroad have different concerns about severe COVID-19. Domestic research focuses on the diagnosis and treatment of severe cases, while foreign countries attach importance to epidemic response and prevention.

Purpose: Whether a dilated intrahepatic bile duct (IHBD) has any effect on the prognosis of choledochal cyst (CC) remains controversial. We aimed to summarize the clinical characteristics and prognosis of CC with IHBD dilatation. Methods: One hundred ninety-two children diagnosed with CC were identified, including 127 without IHBD dilatation (group A) and 65 with IHBD dilatation (group B). A retrospective analysis was performed to explore the clinical characteristics and prognosis of CC with IHBD dilatation based on clinical indices, symptoms, and complications. Results: Compared with group A, incidences of jaundice and fever were higher in group B (P = 0.010 and P = 0.033). Preoperative total bilirubin, direct bilirubin, and indirect bilirubin were increased in group B compared to group A (P = 0.005, P < 0.001, and P = 0.014), as were preoperative ALT, AST, γ-GT, and total bile acid (P = 0.006, P = 0.025, P < 0.001, and P = 0.024). The risk of liver fibrosis or cirrhosis was significantly increased for group B compared with group A (P = 0.012) and also occurred earlier in group B (P = 0.006). In the dilated IHBDs, 95.4% (62 of 65) recovered to normal, and more than half of dilated IHBDs (37 of 65) recovered to normal in 1 week. Conclusion Most IHBDs can recover to normal postoperatively in a short time, and proactive treatment is recommended for CC patients with IHBD dilatation for significant abnormal liver functions.

The remote monitoring of patients at intensive care units(ICU), known as tele-ICU technology, is as yet a new concept in China. The authors introduced the efforts made by the Second Affiliated Hospital in working with a hospital in Xinjiang to provide the tele-ICU model. In this model, telemedicine medical workers cooperate with bedside healthcare providers of the hospital in Xinjiang in co-care of the patients. Such a practice can elevate the critical care medicine of the latter hospital, worthy of further promotion.

Objective:To study the frequency of SLC26A4 gene mutation sites in children with enlarged vestibular aqueduct deafness in Yunnan, report the new mutation sites of SLC26A4 gene, further clarify the mutation spectrum of SLC26A4gene, and explore the association between biallelic and monoallelic mutations of SLC26A4 gene and CT phenotype of inner ear, so as to provide basis for clinical and genetic diagnosis of deafness. Methods:Review the results of temporal bone CT examination of 390 children after cochlear implantation in the Department of Otolaryngology, Kunming Children's Hospital from August 2016 to September 2021. Sanger sequencing of SLC26A4 gene was performed in 59 children with enlarged vestibular aqueduct. According to the genetic test results, the children who underwent temporal bone CT examination were divided into two groups: SLC26A4 biallelic mutation group（homozygous mutation and compound heterozygous mutation）, monoallelic mutation group, and the association with inner ear CT phenotype was analyzed, and the new sites were summarized and analyzed. Results:The c.919-2a>g mutation was the most common mutation in children with enlarged vestibular aqueduct with SLC26A4 gene mutation. Three new variants of SLC26A4 gene were found; CT examination combined with genetic testing found that a part of children with enlarged vestibular aqueduct was associated with SLC26A4 monoallelic mutation or no SLC26A4 gene mutation was detected. Further research is needed to investigate the involvement of other pathogenic factors in the pathogenesis of EVA.
Child ; Humans ; Mutation Rate ; Membrane Transport Proteins/genetics* ; China ; Hearing Loss, Sensorineural/diagnosis* ; Mutation ; Vestibular Aqueduct ; Vestibular Diseases/pathology* ; Deafness/genetics*