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1.
J Biomed Inform ; 156: 104668, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38857737

RESUMO

OBJECTIVE: The objective of this study is to integrate PICO knowledge into the clinical research text summarization process, aiming to enhance the model's comprehension of biomedical texts while capturing crucial content from the perspective of summary readers, ultimately improving the quality of summaries. METHODS: We propose a clinical research text summarization method called DKGE-PEGASUS (Domain-Knowledge and Graph Convolutional Enhanced PEGASUS), which is based on integrating domain knowledge. The model mainly consists of three components: a PICO label prediction module, a text information re-mining unit based on Graph Convolutional Neural Networks (GCN), and a pre-trained summarization model. First, the PICO label prediction module is used to identify PICO elements in clinical research texts while obtaining word embeddings enriched with PICO knowledge. Then, we use GCN to reinforce the encoder of the pre-trained summarization model to achieve deeper text information mining while explicitly injecting PICO knowledge. Finally, the outputs of the PICO label prediction module, the GCN text information re-mining unit, and the encoder of the pre-trained model are fused to produce the final coding results, which are then decoded by the decoder to generate summaries. RESULTS: Experiments conducted on two datasets, PubMed and CDSR, demonstrated the effectiveness of our method. The Rouge-1 scores achieved were 42.64 and 38.57, respectively. Furthermore, the quality of our summarization results was found to significantly outperform the baseline model in comparisons of summarization results for a segment of biomedical text. CONCLUSION: The method proposed in this paper is better equipped to identify critical elements in clinical research texts and produce a higher-quality summary.


Assuntos
Pesquisa Biomédica , Mineração de Dados , Processamento de Linguagem Natural , Redes Neurais de Computação , Mineração de Dados/métodos , Pesquisa Biomédica/métodos , Humanos , Algoritmos
2.
Cochrane Database Syst Rev ; 2: CD004184, 2024 02 14.
Artigo em Inglês | MEDLINE | ID: mdl-38353289

RESUMO

BACKGROUND: Variation in blood pressure levels display circadian rhythms. Complete 24-hour blood pressure control is the primary goal of antihypertensive treatment and reducing adverse cardiovascular outcomes is the ultimate aim. This is an update of the review first published in 2011. OBJECTIVES: To evaluate the effectiveness of administration-time-related effects of once-daily evening versus conventional morning dosing antihypertensive drug therapy regimens on all-cause mortality, cardiovascular mortality and morbidity, total adverse events, withdrawals from treatment due to adverse effects, and reduction of systolic and diastolic blood pressure in people with primary hypertension. SEARCH METHODS: We searched the Cochrane Hypertension Specialised Register via Cochrane Register of Studies (17 June 2022), Cochrane Central Register of Controlled Trials (CENTRAL) (Issue 6, 2022); MEDLINE, MEDLINE In-Process and MEDLINE Epub Ahead of Print (1 June 2022); Embase (1 June 2022); ClinicalTrials.gov (2 June 2022); Chinese Biomedical Literature Database (CBLD) (1978 to 2009); Chinese VIP (2009 to 7 August 2022); Chinese WANFANG DATA (2009 to 4 August 2022); China Academic Journal Network Publishing Database (CAJD) (2009 to 6 August 2022); Epistemonikos (3 September 2022) and the reference lists of relevant articles. We applied no language restrictions. SELECTION CRITERIA: We included randomised controlled trials (RCTs) comparing the administration-time-related effects of evening with morning dosing monotherapy regimens in people with primary hypertension. We excluded people with known secondary hypertension, shift workers or people with white coat hypertension. DATA COLLECTION AND ANALYSIS: Two to four review authors independently extracted data and assessed trial quality. We resolved disagreements by discussion or with another review author. We performed data synthesis and analyses using Review Manager Web for all-cause mortality, cardiovascular mortality and morbidity, serious adverse events, overall adverse events, withdrawals due to adverse events, change in 24-hour blood pressure and change in morning blood pressure. We assessed the certainty of the evidence using GRADE. We conducted random-effects meta-analysis, fixed-effect meta-analysis, subgroup analysis and sensitivity analysis. MAIN RESULTS: We included 27 RCTs in this updated review, of which two RCTs were excluded from the meta-analyses for lack of data and number of groups not reported. The quantitative analysis included 25 RCTs with 3016 participants with primary hypertension. RCTs used angiotensin-converting enzyme inhibitors (six trials), calcium channel blockers (nine trials), angiotensin II receptor blockers (seven trials), diuretics (two trials), α-blockers (one trial), and ß-blockers (one trial). Fifteen trials were parallel designed, and 10 trials were cross-over designed. Most participants were white, and only two RCTs were conducted in Asia (China) and one in Africa (South Africa). All trials excluded people with risk factors of myocardial infarction and strokes. Most trials had high risk or unclear risk of bias in at least two of several key criteria, which was most prominent in allocation concealment (selection bias) and selective reporting (reporting bias). Meta-analysis showed significant heterogeneity across trials. No RCTs reported on cardiovascular mortality and cardiovascular morbidity. There may be little to no differences in all-cause mortality (after 26 weeks of active treatment: RR 0.49, 95% CI 0.04 to 5.42; RD 0, 95% CI -0.01 to 0.01; very low-certainty evidence), serious adverse events (after 8 to 26 weeks of active treatment: RR 1.17, 95% CI 0.53 to 2.57; RD 0, 95% CI -0.02 to 0.03; very low-certainty evidence), overall adverse events (after 6 to 26 weeks of active treatment: RR 0.89, 95% CI 0.67 to 1.20; I² = 37%; RD -0.02, 95% CI -0.07 to 0.02; I² = 38%; very low-certainty evidence) and withdrawals due to adverse events (after 6 to 26 weeks active treatment: RR 0.76, 95% CI 0.47 to 1.23; I² = 0%; RD -0.01, 95% CI -0.03 to 0; I² = 0%; very low-certainty evidence), but the evidence was very uncertain. AUTHORS' CONCLUSIONS: Due to the very limited data and the defects of the trials' designs, this systematic review did not find adequate evidence to determine which time dosing drug therapy regimen has more beneficial effects on cardiovascular outcomes or adverse events. We have very little confidence in the evidence showing that evening dosing of antihypertensive drugs is no more or less effective than morning administration to lower 24-hour blood pressure. The conclusions should not be assumed to apply to people receiving multiple antihypertensive drug regimens.


Assuntos
Anti-Hipertensivos , Hipertensão , Humanos , Anti-Hipertensivos/efeitos adversos , Inibidores da Enzima Conversora de Angiotensina/uso terapêutico , Bloqueadores dos Canais de Cálcio/uso terapêutico , Hipertensão Essencial/induzido quimicamente , Hipertensão Essencial/complicações , Hipertensão Essencial/tratamento farmacológico
3.
Clin Immunol ; 258: 109858, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-38052292

RESUMO

BACKGROUND: We investigated two brothers who presented with repeated lung infections after 6 months of age. Lymphocytes and neutrophils were significantly decreased, and both had bronchiectasis and emphysema. OBJECTIVE: We sought to characterize the complete picture of lung injury in some types of primary immunodeficiency disease, followed by verification and analysis. METHODS: We performed immune function determination, a complete examination of the respiratory system, genetic analysis, and literature research. RESULTS: The levels of lymphocytes, neutrophils, monocytes, and natural killer cells in the brothers were significantly decreased. The IgM and IgG levels of the older brother were decreased, while the IgM and IgA levels of the younger brother were decreased. Both brothers had bronchial wall erosion with a worm-eaten appearance and decreased lung function. Genetic testing revealed a hemizygous missense mutation (c.511C > T:p.R171W) in exon 5 of the MSN gene, which was inherited from the mother. A literature review showed that the primary immunodeficiency caused by MSN gene mutations is an X-linked recessive genetic disease with four known gene mutation sites, including nonsense and missense mutations. Nonsense mutations result in a higher incidence of autoimmune diseases and a lower degree of immune function impairment. Nonsense mutations closer to the front of the MSN gene may cause more severe disease. Neonatal disease screening can improve the early diagnosis rate, but hematopoietic stem cell transplantation (HSCT) treatment is controversial. CONCLUSION: The primary immunodeficiency disease caused by MSN gene mutation is an X-linked recessive genetic disease that involves structural and functional damage to the respiratory system, and the worm-eaten appearance of the bronchial wall under endoscopy may be a relatively specific sign. The general manifestations of this disease are recurrent infections from 1 month to 6 months after birth, significantly reduced counts of lymphocytes and neutrophils, and decreased cellular and humoral immune function. Different types of MSN gene mutations and nonsense mutations at different sites have different clinical phenotypes. This study enriches the known spectrum of this disease.


Assuntos
Códon sem Sentido , Doenças da Imunodeficiência Primária , Masculino , Recém-Nascido , Humanos , Criança , Mutação , Imunoglobulina M
4.
Open Forum Infect Dis ; 9(10): ofac478, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36225748

RESUMO

Infants are more likely to develop severe pertussis. We report a malignant pertussis case in a 2-month-old boy with respiratory failure, severe pneumonia, septic shock, and encephalopathy. Bordetella pertussis was detected from nasopharyngeal secretions by polymerase chain reaction, as well as both blood and cerebrospinal fluid samples via metagenomics next-generation sequencing.

5.
Pediatr Infect Dis J ; 41(1): 6-11, 2022 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-34508026

RESUMO

BACKGROUND: China has a high burden of tuberculosis and latent tuberculosis infection (LTBI). The aim of this study was to estimate the prevalence of LTBI among healthy young children and adolescents and test a 2-step approach to explore the threshold for the diagnosis of tuberculosis infection in Chengdu, China. METHODS: Healthy preschool children and school-going children in Chengdu, Sichuan Province, were screened for LTBI using the tuberculin skin test (TST). Preschool children with TST ≥ 5 mm also underwent interferon-γ release assay (IGRA) to explore the threshold of this 2-step approach. RESULTS: In total, 5667 healthy young children and adolescents completed TST test between July 2020 and January 2021 and were included in the present analysis. The age of the participants ranged from 2.4 to 18 years (median 7.25 ± 4.514 years), of which 2093 (36.9%) were younger than 5 years. The overall prevalence of LTBI was 6.37% and 6.64% in children younger than 5 years old. Fourteen of the 341 preschool children with TST ≥5 mm were interferon-γ release assay positive, of which 4 showed a TST result of 5-10 mm, and 6 preschool children received preventive treatment for LTBI. CONCLUSIONS: Healthy young children and adolescents should also be considered as important target populations for LTBI screening. TST can be recommended for first-line screening as part of a 2-step approach for LTBI screening using a positive threshold of 5 mm.


Assuntos
Técnicas de Laboratório Clínico/métodos , Testes de Liberação de Interferon-gama/estatística & dados numéricos , Tuberculose Latente/diagnóstico , Tuberculose Latente/epidemiologia , Teste Tuberculínico/estatística & dados numéricos , Adolescente , Criança , Pré-Escolar , China/epidemiologia , Técnicas de Laboratório Clínico/normas , Feminino , Voluntários Saudáveis , Humanos , Testes de Liberação de Interferon-gama/economia , Testes de Liberação de Interferon-gama/métodos , Masculino , Prevalência , Reprodutibilidade dos Testes , Teste Tuberculínico/economia , Teste Tuberculínico/métodos
6.
Risk Manag Healthc Policy ; 14: 5047-5057, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34955661

RESUMO

As an implementation strategy, the actual functional scope of clinical pathway (CPW) can be mastered is the basis for evaluating and improving CPW management, which is very important for bridging the evidence-to-practice gap. Here, we propose and discuss a design and evaluation model for CPWs through some theoretical lenses that may help the designer master the actual functional scope of CPWs and accumulate and refine effective key management steps of a specific disease. We can thus determine the best-optimized design with the largest net benefit that allows definition of the core management steps for a specific disease.

7.
Transl Pediatr ; 10(2): 423-434, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33708529

RESUMO

In order to investigate the clinical features of pregnant women and their neonates with coronavirus disease 2019 (COVID-19) and the evidence of vertical transmission of COVID-19, we retrieved studies included in PubMed, Medline and Chinese databases from January 1, 2000 to October 25, 2020 using relevant terms, such as 'COVID-19', 'vertical transmission' et al. in 'Title/Abstract'. Case reports and case series were included according to the inclusion and exclusion criteria. We conducted literature screening and data extraction, and performed literature bias risk assessment. Total of 13 case series and 16 case reports were collected, including a total of 564 pregnant women with COVID-19 and their 555 neonates, of which 549 neonates received nucleic acid test for the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and 18 neonates was diagnosed with COVID-19. The positive rate is 3.28%. Amniotic fluid of one woman was tested positive for SARS-CoV-2. The majority of infected neonates were born under strict infection control and received isolation and artificial feeding. Up till now, there is no sufficient evidence to exclude the possibility of vertical transmission for COVID-19 based on the current available data.

8.
Medicine (Baltimore) ; 99(14): e19625, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32243388

RESUMO

Patients with both serous effusion and eosinophilia are rarely reported and geographically distributed; their early diagnosis is difficult.According to the ultimate diagnosis, patients (≤14 years) in West China Second hospital with serous effusion and eosinophilia were divided into two groups including a parasitic group and a non-parasitic group. Clinical data were collected and analyzed between the two groups. Subsequently, significant measurement indicators were evaluated by receiver operating characteristic (ROC) curve to explore the optimal cut-off points for the most appropriate sensitivity and specificity.A total of 884 patients were diagnosed with serous effusion and 61 of them displayed co-morbidity with eosinophilia during enrolled time. Among 61 patients, 34 patients had parasitic infection and 27 had non-parasitic diseases. There were statistical difference in effusion position, the levels of white blood cell count (WBC), eosinophil (EOS), EOS%, C-reactive protein (CRP) between parasitic group and non-parasitic group. ROC curve demonstrated that the areas under the curve of EOS count and EOS% were >80%, and the corresponding optimal cut-off values were 1.71 × 10/L and 25.6% for distinguishing between parasitic and non-parasitic infections in our patients.This study provided a quantified index for potentially quick and convenient indicators of pediatric patients presenting with both eosinophilia and effusion. Eosinophils were helpful to improve the initial diagnosis with awareness of parasitic diseases. For the cases with EOS > 1.71 × 10/L or EOS% > 25.6%, parasitic infection should be considered and serological tests are recommended in our region.


Assuntos
Doenças Parasitárias/diagnóstico , Derrame Pleural/diagnóstico , Eosinofilia Pulmonar/diagnóstico , Proteína C-Reativa/análise , Criança , Pré-Escolar , China , Diagnóstico Diferencial , Diagnóstico Precoce , Eosinófilos/metabolismo , Feminino , Humanos , Pacientes Internados , Contagem de Leucócitos , Masculino , Doenças Parasitárias/sangue , Doenças Parasitárias/complicações , Derrame Pleural/sangue , Derrame Pleural/parasitologia , Eosinofilia Pulmonar/sangue , Eosinofilia Pulmonar/parasitologia , Curva ROC , Estudos Retrospectivos , Sensibilidade e Especificidade
11.
Pancreas ; 47(10): 1312-1316, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30286016

RESUMO

OBJECTIVES: The aim of this study was to compare the concordance of the Balthazar grade and the revised Atlanta classification and then establish a modified radiological scoring system that would predict 3 degrees of severity of acute pancreatitis (AP) based on the latest Atlanta classification. METHODS: A retrospective study enrolling pediatric inpatients with AP who had completed computed tomography was conducted between January 2006 and March 2018. The concordance of the 2 radiological scoring systems was assessed with κ statistic. RESULTS: The Balthazar grade was unable to accurately predict the severity of AP compared with the revised Atlanta classification. However, a modified Balthazar grading system defining patents with Balthazar grades A to C as mild, grade D as moderately, and grade E as severe presented perfect agreement with the revised Atlanta classification across the enrolled population (κ, 0.85; 95% confidence interval, 0.73-0.97). The concordance of the modified Balthazar score and the revised Atlanta classification remained a perfect degree of agreement across repeated tests in 90 random samples (κ, 0.85; 95% confidence interval, 0.85-0.85). CONCLUSIONS: The modified Balthazar grade demonstrated perfect agreement with the latest Atlanta classification for AP severity scoring. As such, the modified Balthazar grade can be used to predict 3 degrees of severity of AP.


Assuntos
Pancreatite/diagnóstico por imagem , Pancreatite/patologia , Índice de Gravidade de Doença , Tomografia Computadorizada por Raios X/métodos , Doença Aguda , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Necrose , Pancreatite/classificação , Prognóstico , Reprodutibilidade dos Testes , Estudos Retrospectivos
12.
Acta Paediatr ; 106(12): 2017-2024, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28799220

RESUMO

AIM: We explored whether C-reactive protein (CRP) concentrations could indicate which infants with fever without source (FWS) should receive undergo blood culture tests during influenza seasons. METHODS: This retrospective study focused on patients under three months of age with FWS who had received blood culture tests at the West China Second University Hospital Paediatric Emergency Department during the influenza seasons from June 2013 to January 2015. The statistical analysis comprised specificity, sensitivity, multilevel likelihood ratios (LRs), receiver operating characteristic analysis and a multivariate logistic regression model. RESULTS: We enrolled 592 febrile patients and 7.1% had bacteraemia, with levels falling with increasing age. According to the receiver operating characteristic analysis, the optimum threshold of CRP was 30.5 mg/L, and when the CRP level was higher than 30.5 mg/L, the positive LR of bacteraemia was 2.32. In patients aged 29-90 days, when the CRP level was higher than 5 mg/L, the negative LR of bacteraemia was 0.38. In the neonatal group, a CRP level of ≥30.5 mg/L had a positive LR of bacteraemia of 3.55. CONCLUSION: We found that CRP concentrations could indicate which febrile children under three months of age should undergo blood culture tests during influenza seasons.


Assuntos
Bacteriemia/sangue , Bacteriemia/diagnóstico , Proteína C-Reativa/análise , Febre de Causa Desconhecida/sangue , Influenza Humana/sangue , Influenza Humana/diagnóstico , Bacteriemia/epidemiologia , Biomarcadores/sangue , Hemocultura , Feminino , Humanos , Lactente , Influenza Humana/epidemiologia , Masculino , Prevalência , Estudos Retrospectivos , Estações do Ano
13.
Paediatr Drugs ; 19(5): 479-486, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28523589

RESUMO

BACKGROUND: No evidence can be found in the medical literature about the efficacy of alternating acetaminophen and ibuprofen treatment in children with refractory fever. OBJECTIVE: Our objective was to assess the effect of alternating acetaminophen and ibuprofen therapy on distress and refractory fever compared with acetaminophen or ibuprofen as monotherapy in febrile children. METHODS: A total of 474 febrile children with axillary temperature ≥38.5 °C and fever history ≤3 days in a tertiary hospital were randomly assigned to receive either (1) alternating acetaminophen and ibuprofen (acetaminophen 10 mg/kg per dose with shortest interval of 4 h and ibuprofen 10 mg/kg per dose with shortest interval of 6 h and the shortest interval between acetaminophen and ibuprofen ≥2 h; n = 158), (2) acetaminophen monotherapy (10 mg/kg per dose with shortest interval of 4 h; n = 158), or (3) ibuprofen monotherapy (10 mg/kg per dose with shortest interval of 6 h; n = 158). The mean Non-Communicating Children's Pain Checklist (NCCPC) score was measured every 4 h, and axillary temperatures were measured every 2 h. RESULTS: In total, 471 children were included in an intention-to-treat analysis. No significant clinical or statistical difference was found in mean NCCPC score or temperature during the 24-h treatment period in all febrile children across the three groups. Although the proportion of children with refractory fever for 4 h and 6 h was significantly lower in the alternating group than in the monotherapy groups (4 h: 11.54% vs. 26.58% vs. 21.66%, respectively [p = 0.003]; 6 h: 3.85% vs. 10.13% vs. 17.83%, respectively [p < 0.001]), the mean NCCPC score of children with refractory fever for 4 or 6 h was not lower than those in either of the monotherapy groups. The number of patients who developed persistent high body temperature was consistent across all study groups. CONCLUSIONS: Alternating acetaminophen and ibuprofen can reduce the proportion of children with refractory fever, but if one cycle of alternating therapy cannot reduce febrile distress as defined by NCCPC score, two or more cycles of alternating therapy may have minimal to no clinical efficacy in some cases. The trial was registered with the Chinese Clinical Trial Registry as ChiCTR-TRC-13003440 and the WHO Registry Network as U1111-1146-6714.


Assuntos
Acetaminofen/uso terapêutico , Antipiréticos/uso terapêutico , Febre/tratamento farmacológico , Ibuprofeno/uso terapêutico , Criança , Pré-Escolar , Esquema de Medicação , Quimioterapia Combinada , Feminino , Febre/fisiopatologia , Humanos , Masculino , Estudos Prospectivos , Centros de Atenção Terciária
14.
Cochrane Database Syst Rev ; (5): CD010714, 2016 May 19.
Artigo em Inglês | MEDLINE | ID: mdl-27197069

RESUMO

BACKGROUND: Gastrointestinal bleeding refers to loss of blood from any site of the digestive tract. In paediatric clinical practice, it is usually a complaint of children attending the emergency department as a symptom of diseases such as ulcers, gastric or oesophageal varices, gastritis, Mallory-Weiss tears, anorectal fissures, allergic colitis, infectious colitis, intussusception, Henoch-Schonlein purpura, and Meckel's diverticulum; it also occurs with high incidence in critically ill children hospitalised in intensive care units and is caused by stress-induced gastropathy. No matter what the cause of gastrointestinal bleeding, fasting is believed to be necessary due to the fear that eating may affect haemostasis or aggravate bleeding. OBJECTIVES: To assess the effects and safety of fasting for haemostasis in gastrointestinal bleeding in children. SEARCH METHODS: We searched EBM Reviews - the Cochrane Central Register of Controlled Trials (CENTRAL) (May 2016), Ovid MEDLINE(R) (1946 to 3 May 2016), EMBASE (1980 to 2016 Week 18), Chinese Biomedical Database (CBM) (1978 to 3 May 2016), China National Knowledge Infrastructure (CNKI) (1979 to 3 May 2016), VIP Database (1989 to 4 May 2016) and Wanfang Data (1990 to 4 May 2016). We used no restrictions on language or study setting and limited searches in CNKI and Wanfang Data to the medical field. SELECTION CRITERIA: Randomised controlled trials (RCTs) or quasi-RCTs in children with gastrointestinal bleeding that compared fasting with feeding. DATA COLLECTION AND ANALYSIS: Two review authors independently screened the literature search results, and there were no disagreements. MAIN RESULTS: We identified no RCTs or quasi-RCTs that compared the effects and safety of fasting with feeding for haemostasis in children with gastrointestinal bleeding. No study fulfilled the criteria for considering studies for our review. AUTHORS' CONCLUSIONS: There is currently no information available from RCTs or quasi-RCTs to support or refute the use of fasting for haemostasis in children with gastrointestinal bleeding.


Assuntos
Jejum , Hemorragia Gastrointestinal/terapia , Hemostasia , Criança , Hemorragia Gastrointestinal/etiologia , Humanos
15.
J Evid Based Med ; 9(3): 136-143, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26845692

RESUMO

OBJECTIVE: To evaluate the efficiency of Problem-Based Learning (PBL) in paediatric education. METHODS: The research articles on the application of PBL to Chinese paediatric education published in from 1989 to 2014 in the Cochrane library, PubMed/MEDLINE, EBSCO (Elton B. Stephens Company Database), OVID (Ovid Technologies Database), Web of Science, CNKI (China National Knowledge Infrastructure Database), VIP (Wei Pu Database), WF (WanFang Database) and other databases were retrieved by two independent evaluators according to the inclusion and exclusion criteria. The heterogeneity of the retrieved data was analysed and a meta-analysis was performed using the RevMan 5.3 software. RESULTS: The articles were initially retrieved, and 11 randomized controlled trials (RCTs) were included for the meta-analysis. The PBL group was significantly superior to the Lecture-Based Learning (LBL) group for the paediatrics theoretical test score, case analysis score and overall student satisfaction, and the differences were statistically significant (P < 0.05). CONCLUSIONS: PBL is superior to LBL method for Chinese paediatric education.

16.
Artigo em Inglês | MEDLINE | ID: mdl-26087092

RESUMO

UNLABELLED: Pachyonychia congenita (PC) is a rare genetic disorder which is inherited in an autosomal dominant pattern. We report a sporadic novel H1 mutation in the KRT6A gene (c. 428G>A/p.Ser143Asn) in a Chinese infant patient. The mutation is concurrent with a single-nucleotide polymorphism and resulted in a serine for asparagine substitution in H1 subdomain of KRT6A chain next to the rod domain. The infant showed the classic symptoms of pachyonychia congenita. CONCLUSION: The heterozygous missense mutation c. 428G > A/p.Ser143Asn in KRT6A exon 1 may cause severe disease.


Assuntos
Queratina-6/genética , Paquioníquia Congênita/genética , Feminino , Humanos , Lactente , Mutação de Sentido Incorreto , Linhagem
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