RESUMEN
Enterococcus faecalis is an important contributor to the persistence of chronic apical periodontitis. However, the mechanism by which E. faecalis infection in the root canals and dentinal tubules affects periapical tissue remains unclear. Bacterial extracellular vesicles (EVs) act as natural carriers of microbe-associated molecular patterns (MAMPs) and have recently attracted considerable attention. In this study, we investigated the role of EVs derived from E. faecalis in the pathogenesis of apical periodontitis. We observed that E. faecalis EVs can induce inflammatory bone destruction in the periapical areas of mice. Double-labeling immunofluorescence indicated that M1 macrophage infiltration was increased by E. faecalis EVs in apical lesions. Moreover, in vitro experiments demonstrated the internalization of E. faecalis EVs into macrophages. Macrophages tended to polarize toward the M1 profile after treatment with E. faecalis EVs. Pattern recognition receptors (PRRs) can recognize MAMPs of bacterial EVs and, in turn, trigger inflammatory responses. Thus, we performed further mechanistic exploration, which showed that E. faecalis EVs considerably increased the expression of NOD2, a cytoplasmic PRR, and that inhibition of NOD2 markedly reduced macrophage M1 polarization induced by E. faecalis EVs. RIPK2 ubiquitination is a major downstream of NOD2. We also observed increased RIPK2 ubiquitination in macrophages treated with E. faecalis EVs, and E. faecalis EV-induced macrophage M1 polarization was notably alleviated by the RIPK2 ubiquitination inhibitor. Our study revealed the potential for EVs to be considered a virulence factor of E. faecalis and found that E. faecalis EVs can promote macrophage M1 polarization via NOD2/RIPK2 signaling. To our knowledge, this is the first report to investigate apical periodontitis development from the perspective of bacterial vesicles and demonstrate the role and mechanism of E. faecalis EVs in macrophage polarization. This study expands our understanding of the pathogenic mechanism of E. faecalis and provides novel insights into the pathogenesis of apical periodontitis.
Asunto(s)
Enterococcus faecalis , Vesículas Extracelulares , Macrófagos , Periodontitis Periapical , Periodontitis Periapical/microbiología , Periodontitis Periapical/metabolismo , Animales , Ratones , Macrófagos/microbiología , Proteína Adaptadora de Señalización NOD2/metabolismo , Ratones Endogámicos C57BL , Modelos Animales de EnfermedadRESUMEN
Objective: To investigate the prevalence and risk factors of medication non-adherence in children with inflammatory bowel disease (IBD). Methods: A cross-sectional study was conducted in Children's Hospital, Zhejiang University School of Medicine from September 2020 to March 2022 and 112 children with IBD were enrolled. Their general information, medication adherence, and parental disease-related knowledge were collected by questionnaires. According to the medication adherence score, the children were divided into the adherence group (score of 6 to 8) and the non-adherence group (score of <6), then the demographic and clinical characteristics of the two groups were compared. Subsequently, a multivariate binary Logistic regression analysis was performed to determine the risk factors of medication non-adherence. Results: Of the 112 children, 76 were males and 36 females, with the age of 12.9 (9.5, 14.0) years. There were 50 (44.6%) in the non-adherence group and 62 (55.4%) in the adherence group. Regarding the demographic and clinical characteristics, the results showed that the dosage frequency and the parental disease related knowledge were associated with medication non-adherence (both P<0.05). Multivariate binary Logistic regression analysis showed that compared with 0-6 years old children, the risk of medication non-adherence was significantly increased in children aged 7-12 years (OR=9.30, 95%CI 1.58-54.87, P=0.014) and 13-18 years (OR=8.26, 95%CI 1.49-45.85, P=0.016); and the risk was also significantly increased in children who took medication twice or more per day (OR=12.88, 95%CI 2.77-59.80, P=0.001) compared with children who took medication once per day. Meanwhile, the parental score of the questionnaire on Crohn's disease and ulcerative colitis related knowledge (OR=0.76, 95%CI 0.66-0.89, P=0.001) was also a significant risk factor. Conclusions: Medication non-adherence is common in children with IBD. Children older than 7 years, a dosage frequency of twice or more per day, and parental poor disease-related knowledge are the independent risk factors for medication non-adherence in children with IBD. Clinicians should pay attention to promoting patients' adherence to improve clinical outcomes.
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Enfermedades Inflamatorias del Intestino , Masculino , Femenino , Niño , Humanos , Recién Nacido , Lactante , Preescolar , Estudios Transversales , Prevalencia , Enfermedades Inflamatorias del Intestino/epidemiología , Cumplimiento de la Medicación , Enfermedad Crónica , Factores de RiesgoRESUMEN
Objective: To explore the differences in subsequent analysis between metagenomic and 16Sr DNA sequencing in compositionally characterizing gut microbiota of healthy elderly. Methods: By using a panel study design, five monthly repeated measurements were performed among 76 healthy older people in Jinan City, Shandong Province. Their fecal samples were collected, and genomic DNA was extracted and analyzed through metagenomic and 16Sr DNA sequencing to compare the composition and diversity of gut microbiota. The correlation between species abundance and α diversity was analyzed by Pearson correlation analysis, and the correlation between species abundance and ß diversity was determined by Procrustes analysis. Results: The age of 76 participants was (65.07±2.75), and the body mass index was (25.03±2.40) kg/m2. There were 38 males and 38 females. A total of 345 fecal samples were obtained from five monthly repeated measurements. Compared with 16S rDNA sequencing, metagenomic sequencing showed more annotated species at each level. The difference in the number of two sequencing species increased with the decrease of the level. Although there were significant differences in species richness between the two sequencing methods. Their species richness was highly correlated at both phylum (r=0.88, P<0.001) and genus (r=0.77, P<0.001) levels. Bacteroidetes and Firmicutes were the common dominant species. Gut microbiota diversity analysis further showed that there was a significantly positive correlation between α diversity (r=0.70, P<0.001) and ß diversities (M2=0.84, P<0.05) in the two groups. Conclusion: The annotation efficiency of metagenomic sequencing is much higher than that of 16S rDNA sequencing. The two sequencing methods are consistent in phylum abundance as well as α diversity.
Asunto(s)
Microbioma Gastrointestinal , Masculino , Femenino , Humanos , Anciano , Microbioma Gastrointestinal/genética , ADN Ribosómico/genética , Heces , Análisis de Secuencia de ADN , Metagenómica , ARN Ribosómico 16S/genéticaRESUMEN
SARS-CoV-2 has infected more than 600 million people worldwide and caused more than 6 million deaths. The emerging novel variants have made the epidemic rebound in many places. Meteorological factors can affect the epidemic spread by changing virus activity, transmission dynamic parameters and host susceptibility. This paper systematically analyzed the currently available laboratory and epidemiological studies on the association between the meteorological factors and COVID-19 incidence, in order to provide scientific evidence for future epidemic control and prevention, as well as developing early warning system.
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COVID-19 , SARS-CoV-2 , Humanos , Conceptos Meteorológicos , Laboratorios , Estudios EpidemiológicosRESUMEN
Objective: To explore the incidence and the risk factors of post-polypectomy bleeding and polyp recurrence after colonoscopic high-frequency electrocoagulation snare polypectomy. Methods: Clinical data of 1 826 children who underwent colonoscopic high-frequency electrocoagulation snare polypectomy in the Children's Hospital, Zhejiang University School of Medicine from January 2009 to December 2020 was retrospectively analyzed. Demographic characteristics, endoscopic manifestations, pathological features, diagnosis, occurrence of post-polypectomy bleeding and polyp recurrence were collected. The associated risk factors were analyzed by Logistic regression. Results: A total of 1 826 children (1 191 males and 635 females) with 1 967 polypectomies were included. The age was 4.6 (3.2, 6.4) years at initial diagnosis. According to the initial colonoscopy, 1 611 children (88.2%) had solitary polyps, 1 707 children (93.5%) had pedicled polyps, 1 151 children (63.0%) had polyps involving the rectum, and 1 757 children (96.2%) had hamartomatous polyps. Polyposis syndromes were diagnosed in 73 children (4.0%). The post-polypectomy bleeding occurrence was 3.8% (75/1 967). Polyps recurred in 88 children (4.8%). Girls (OR=2.01, 95%CI 1.26-3.23) and sessile polyps (OR=2.28, 95%CI 1.15-4.49) were risk factors for post-polypectomy bleeding (both P<0.05). Multiple polyps (OR=17.49, 95%CI 9.82-31.18), right-colon involvement (OR=3.44, 95%CI 1.89-6.26) and non-hamartoma (OR=2.51, 95%CI 1.04-6.07) were risk factors for polyp recurrence (all P<0.05). Conclusions: Colonoscopic high-frequency electrocoagulation snare polypectomy has low incidence of post-polypectomy bleeding and polyp recurrence. Female patients and sessile polyps have higher risk for post-polypectomy bleeding. Multiple polyps, right-colon involvement and non-hamartoma polyps increase the risk for polyp recurrence.
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Pólipos del Colon , Niño , Colon , Pólipos del Colon/etiología , Pólipos del Colon/patología , Pólipos del Colon/cirugía , Colonoscopía/efectos adversos , Femenino , Hemorragia , Humanos , Masculino , Estudios Retrospectivos , Factores de RiesgoRESUMEN
Objective: To investigate the pathological characteristics and clinical prognosis of nodular sclerosis grade 2 of classic Hodgkin's lymphoma (cHL-NS2) in our cancer center. Methods: A retrospective collection of 23 cases of cHL-NS2 admitted in Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College from July 2008 to April 2019 was performed. Fifty-five cases of nodular sclerosis grade 1 of classical Hodgkin's lymphoma (cHL-NS1) during the same period were selected as control group. Survival curves were plotted using the Kaplan-Meier method, and Cox regression model was used to analyze the influencing factors for survival. Results: The median age of 23 cases of cHL-NS2 was 30 years old. Five cases had extra nodal invasion, and 19 cases were â -â ¡ stage based on Ann Arbor system. The pathological morphology of cHL-NS2 showed that the lymph node structure was completely destroyed and was divided into nodules by thick collagen. The tumor cells in the nodules were abundant and proliferated in sheets. The boundaries between the tumor cells were not clear. The incidence of tumor necrosis in cHL-NS2 was 43.5% (10/23), which was significantly higher than 18.2% (10/55) in cHL-NS1 (P=0.040). The 3-year progression-free survival (PFS) rate of patients in the cHL-NS2 group was 58.1%, which was significantly lower than 89.7% in the cHL-NS1 group (P=0.002). In all of 78 cases, the 3-year PFS rate of patients who did not obtain complete response (CR) was 67.1%, which was significantly lower than 92.2% in patients who achieved CR (P=0.030). Multivariate Cox regression analysis demonstrated that both cHL-NS2 and failure to obtain CR by first-line treatment were independent indicators for short PFS time (P<0.05). Conclusions: In cHL-NS2, the morphology of tumor cells are diverse, and tumor necrosis can be easily found. Under the current first-line treatments of doxorubicin, bleomycin, vinblastine, and dacarbazine (ABVD) or bleomycin, etoposide, doxorubicin, cyclophosphamide, vincristine, procarbazine, and prednisone (BEACOPP), cHL-NS2 is an independent indicator for worse PFS.
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Enfermedad de Hodgkin , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Bleomicina/uso terapéutico , Ciclofosfamida/uso terapéutico , Dacarbazina/uso terapéutico , Doxorrubicina/uso terapéutico , Etopósido/uso terapéutico , Enfermedad de Hodgkin/tratamiento farmacológico , Humanos , Necrosis/tratamiento farmacológico , Prednisona/uso terapéutico , Pronóstico , Estudios Retrospectivos , Esclerosis/tratamiento farmacológico , Vinblastina/uso terapéutico , Vincristina/uso terapéuticoRESUMEN
Objective: To develop and validate a useful predictive model for large gestational age (LGA) in pregnancy using a machine learning (ML) algorithm and compare its performance with the traditional logistic regression model. Methods: Data were obtained from the National Free Preconception Health Examination Project in China, carried out in 220 counties of 31 provinces from 2010 to 2012, covering all rural couples with a planned pregnancy. This study included all teams of childbearing age who delivered newborns within 24-42 weeks of gestational age and their newborns. Ten different ML algorithms were used to establish LGA prediction models, and the prediction performance of these models was evaluated. Results: A total of 104 936 newborns were included, including 54 856 boys (52.3%) and 50 080 girls (47.7%). The incidence of LGA was 11.7% (12 279). The imbalance between the two groups was addressed by the under- sampling technique, after which the overall performance of the ML models was significantly improved. The CatBoost model achieved the highest area under the receiver-operating-characteristic curve (AUC) value of 0.932. The logistic regression model had the worst performance, with an AUC of 0.555. Conclusions: In predicting the risk for LGA in pregnancy, the ML algorithms outperform the traditional logistic regression method. Compared to other ML algorithms, CatBoost could improve the performance, and it deserves further investigation.
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Algoritmos , Aprendizaje Automático , Femenino , Edad Gestacional , Humanos , Lactante , Recién Nacido , Modelos Logísticos , Masculino , Embarazo , Curva ROCRESUMEN
Objective: To investigate the clinicopathological features, differential diagnosis and prognosis of Merkel cell carcinoma (MCC). Methods: The clinical and pathological data of 10 patients with MCC were collected at the 940th Hospital of PLA. The histological characteristics were examined. Immunohistochemical EnVision method was used to detect thyroid transcription factor-1 (TTF1), broad-spectrum cytokeratin (CKpan), CK20, S-100, Ki-67, CD56, chromogranin A, synaptophysin and other markers in the 10 cases. Results: Intradermal MCC of the skin showed a nested, cord-like, cribriform distribution, polygonal cells, uniform size, and lack of cytoplasm. Tumor cell nuclei were large and round, with clear nuclear membranes, fine and scattered chromatin, absence of nucleoli, and mitotic figures of 10 per 50 high power fields. Among them, one patient had sarcoma and squamous cell carcinoma in situ, one patient had squamous cell carcinoma in situ, and one patient had unique cell morphology. Immunohistochemical staining showed that all cancer cells expressed CKpan, synaptophysin and CD56. There were seven cases with perinuclear dot-like positivity of CK20. Six MCCs expressed chromogranin A to varying degrees, while 2 MCCs were weakly positive for p63. The nuclear positive index in the Ki-67 hotspot area was 60%. Conclusion: The histology of MCC varies. Rendering a correct diagnosis of MCC requires adequate sampling, close correlation with clinical history and rational use of immunohistochemical staining. The treatment requires standardized surgery, postoperative radiotherapy and multimodal chemotherapy. Immunotherapy may replace the traditional treatment in the future.
Asunto(s)
Carcinoma de Células de Merkel , Neoplasias Cutáneas , Biomarcadores de Tumor , Carcinoma de Células de Merkel/diagnóstico , Cromogranina A , Diagnóstico Diferencial , Humanos , Inmunohistoquímica , Neoplasias Cutáneas/diagnósticoRESUMEN
OBJECTIVES: Asymptomatic patients, together with those with mild symptoms of coronavirus disease 2019 (COVID-19), may play an important role in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) transmission. However, the dynamics of virus shedding during the various phases of the clinical course of COVID-19 remains unclear at this stage. METHODS: A total of 18 patients found to be positive for SARS-CoV-2 infection by real-time reverse transcription PCR (RT-PCR) assay and admitted to Chongqing University Central Hospital between 29 January and 5 February 2020 were enrolled into this study. Medical data, pulmonary computed tomographic (CT) scan images and RT-PCR results were periodically collected during the patients' hospital stay. All participants were actively followed up for 2 weeks after discharge. RESULTS: A total of nine (50%) asymptomatic patients and nine (50%) patients with mild symptoms of COVID-19 were identified at admission. Six patients (66.7%) who were asymptomatic at admission developed subjective symptoms during hospitalization and were recategorized as being presymptomatic. The median duration of virus shedding was 11.5, 28 and 31 days for presymptomatic, asymptomatic and mildly symptomatic patients, separately. Seven patients (38.9%) continued to shed virus after hospital discharge. During the convalescent phase, detectable antibodies to SARS-CoV-2 and RNA were simultaneously observed in five patients (27.8%). CONCLUSIONS: Long-term virus shedding was documented in patients with mild symptoms and in asymptomatic patients. Specific antibody production to SARS-CoV-2 may not guarantee virus clearance after discharge. These observations should be considered when making decisions regarding clinical and public health, and when considering strategies for the prevention and control of SARS-CoV-2 infection.
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Infecciones Asintomáticas , Betacoronavirus/fisiología , Infecciones por Coronavirus/virología , Neumonía Viral/virología , Esparcimiento de Virus , Adulto , Anticuerpos Antivirales/sangre , Betacoronavirus/aislamiento & purificación , COVID-19 , Prueba de COVID-19 , Vacunas contra la COVID-19 , China/epidemiología , Técnicas de Laboratorio Clínico , Convalecencia , Infecciones por Coronavirus/diagnóstico , Infecciones por Coronavirus/transmisión , Femenino , Hospitalización , Humanos , Masculino , Persona de Mediana Edad , Pandemias , Neumonía Viral/diagnóstico , Neumonía Viral/transmisión , ARN Viral/genética , SARS-CoV-2RESUMEN
Objective: To develop an air particulate protective mask filter test device that can simulate the dynamics process of human breathing. Methods: The new device used two air pumps working alternately to simulate the dynamics process of human breathing. On March 4th to 17th, 2017, the new device and the traditional one-way airflow mask filtration test device were used to measure the internal and external particle levels of 39 masks of 13 models of 6 brands, and then the filtration efficiency of the mask was calculated and the test results were compared. Results: For the mask without breathing valve, there was no statistically significant difference between the filter efficiency test results of the new device and the traditional unidirectional airflow filter performance test device (P>0.05) . For masks with breathing valves, the new device detected that three of them had lower filtration efficiency (99.50% vs 98.63%, P<0.01) . After sealing the mask breathing valve with glue, the filtering efficiency of the mask with a breathing valve detected by the new device significantly improved (98.63% vs 99.50%, P<0.01) . Conclusion: This new device can simulate the dynamic process of human exhalation and inhalation, and measure the filtration efficiency of the mask. For masks with breathing valves, the new device makes it easier to detect the decrease in the filtering efficiency of the mask caused by the breathing valve.
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Diseño de Equipo , Filtración , Máscaras , Dispositivos de Protección Respiratoria , Polvo , Humanos , RespiraciónRESUMEN
Objective: To retrospective analyze the epidemiology, clinical characteristics, treatment and prognosis in patients with coronavirus disease 2019 (COVID-19). Methods: A total of 278 patients with COVID-19 admitted to Guangzhou Eighth People's Hospital from January 20 to February 10, 2020 were selected. The general demographic data, epidemiological data, clinical symptoms, laboratory examinations, lung CT imaging, treatment and prognosis were analyzed. Results: There were 130 male patients (46.8%) and 148 females (53.2%) with age (48.1±17.0) years and 88.8% patients between 20-69 years. Two hundred and thirty-six (84.9%) patients had comorbidities. Two hundred and eleven cases (75.9%) were common type. The in-hospital mortality was 0.4% (1/278). The majority (201, 72.3%) were imported cases mainly from Wuhan (89, 44.3%). The most common clinical manifestations were fever (70.9%) and dry cough (61.5%). In some patients, hemoglobin (10.4%), platelets (12.6%) and albumin (55.4%) were lower than the normal range. Other biochemical tests according to liver and function were normal, while lactic dehydrogenase (LDH) was elevated in 61 patients (21.9%), creatine kinase increased in 26 patients (9.4%). Prolonged activated partial thromboplastin time (APTT) was seen in 52 patients (18.7%), D-dimer higher than normal in 140 patients (50.4%), while 117 patients (42.1%) had elevated high-sensitivity C-reactive protein. Typical CT manifestations included single or multiple ground glass shadows especially in lung periphery in early disease which infiltrated and enlarged during progressive stage. Diffuse consolidation with multiple patchy density in severe/critical cases and even "white lung" presented in a few patients. Two hundred and forty-two patients (87.1%) received one or more antiviral agents, 242 (87.1%) combined with antibacterials, 191 (68.7%) with oxygen therapy. There were 198 patients (71.2%) treated with traditional Chinese medicine. Conclusions: COVID-19 could attack patients in all ages with majority of common type and low mortality rate. Clinical manifestations involve multiple organs or systems. Progression of the disease results in critical status which should be paid much attention.
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COVID-19 , Adulto , Anciano , Femenino , Fiebre , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Retrospectivos , SARS-CoV-2RESUMEN
Objective: To explore the clinical features and complications of foreign bodies in the upper gastrointestinal tract in children and to investigate the effectiveness of endoscopic management. Methods: Data of patients with foreign bodies in upper gastrointestinal tract were collected retrospectively at Endoscopy Center, the Children's Hospital, Zhejiang University School of Medicine, from January 2011 to December 2016. Clinical characteristics, the types of foreign bodies, the location and duration of foreign body impaction were summarized. The risk factors of complications and endoscopic removal failure were analyzed by using Logistic regression analysis. Results: A total of 1 334 patients (825 males and 509 females) were enrolled. The median age was 2.5 years, with a range from 0.25 to 15 years and peak age 1-3 years. Twenty patients had esophageal diseases. The most common foreign body ingested was coin (n=964, 72.3%). Foreign bodies were most commonly located in the esophagus (n=1 002, 75.1%), especially in the upper esophagus (n=857, 85.5%). The duration of foreign body impaction ranged from 3 hours to 5 years. Among 1 334 patients, 252 patients (18.9%) developed complications, including ulcers (n=101, 40.0%) and perforations(n=13, 5.2%). The success rate of endoscopic removal was 96.6% (n=1 288). By Logistic regression analysis, sharp foreign body ingestion (OR=6.893, 95%CI: 4.421-10.746) , esophageal impaction (OR=5.253, 95%CI:3.352-8.233) and foreign body impaction longer than 24 hours (OR=4.336, 95%CI:3.091-6.082) were risk factors of complications. Sharp foreign body ingestion was the risk factor of endoscopic failure (OR=5.372, 95%CI:2.773-10.406) . Conclusions: Coin is the most common foreign body in upper gastrointestinal tract. Sharp foreign bodies impacted in the esophagus over 24 hours increase the risk of complications. Endoscopic removal of foreign bodies from the upper gastrointestinal tract in children has a high success rate. Sharp foreign body ingestion increases the risk of failure in endoscopic removing.
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Endoscopía , Cuerpos Extraños , Tracto Gastrointestinal Superior , Preescolar , Esófago , Femenino , Cuerpos Extraños/diagnóstico , Cuerpos Extraños/terapia , Humanos , Lactante , Masculino , Estudios RetrospectivosRESUMEN
Objective: To analyze the clinical characteristics of X-linked inhibitor of apoptosis (XIAP) deficient patients with clinical manifestation of Crohn's disease. Methods: Clinical manifestations, laboratory investigations, genetic testing and therapeutic interventions of one case of XIAP deficiency who was admitted to Department of Gastroenterology in Children's Hospital, Zhejiang University School of Medicine in May 2016 were summarized. PubMed and Chinese database for articles published from January 2016 to June 2017 were searched using the key words of'Crohn's disease'and'XIAP', and the relevant literature was reviewed. Results: The case we reported was a 6-year-1-month-old boy with recurrent bloody stool for 2 months, and abdominal pain with fever for 2 weeks. The patient had a past history of hemophagocytic lymphohistiocytosis (HLH) and epilepsy in the past one year. Complete blood cell count showed mild anemia (Hb108 g/L). The patient had an elevated high-sensitivity C reactive protein (86 mg/L) and erythrocyte sedimentation rate (46 mm/1h) . White blood cells, pus cells and red blood cells were found on routine stool examination. Biochemical panel showed hypoalbuminemia (25.2 g/L) , elevated transaminase (alanine aminotransferase 175 U/L, aspartate transaminase 229 U/L) , hypertriglyceridemia (4.41 mmol/L) , and hyperferritinemia (>1 650.0 µg/L) . Magnetic resonance enterography revealed the intestinal wall thickening and increased enhancement in parts of illeum and colon. Capsule endoscopy revealed multiple ulcers in jejunum. Colonoscopy showed multiple ulcers in colon and the pathological examination revealed chronic inflammation in mucosa of terminal ileum and colon, which was combined with partial necrosis and ulceration. Some phagocytes were seen in bone marrow smears. The patient was given multiple diagnoses, including hemophagocytic lymphohistiocytosis, Crohn's disease, sepsis, epilepsy, severe malnutrition, and hypoproteinemia. The pediatric Crohn's disease activity index (PCDAI) was 37.5. Genetic testing identified a hemizygotic mutation of c.910G>T chrX:123022501 p.G304X in XIAP. The parents had no such mutation. The patient showed response to infliximab with oral intake of mercaptopurine and corticosteroids, and had remission with PCDAI of 0. There were 9 relevant articles (Chinese 0 English 9), which showed 33.3% XIAP deficient patients manifested with inflammatory bowel disease(IBD), who might have other manifestations such as hemophagocytic lymphohistiocytosis or splenomegaly simultaneously or sequentially. Those patients showed poor response to monotherapy. Conclusion: XIAP deficient patients have various clinical manifestations. Genetic testing is important to those male pediatric IBD patients who have the complicated symptoms or little response to standard therapy.
Asunto(s)
Enfermedad de Crohn/genética , Mutación , Proteína Inhibidora de la Apoptosis Ligada a X/genética , Corticoesteroides , Apoptosis , Niño , Colon , Colonoscopía , Enfermedad de Crohn/tratamiento farmacológico , Fármacos Gastrointestinales/uso terapéutico , Humanos , Íleon , Inflamación , Infliximab/uso terapéutico , Linfohistiocitosis Hemofagocítica , Imagen por Resonancia Magnética , MasculinoRESUMEN
OBJECTIVE: To describe the endocrine abnormalities in patients with POEMS syndrome in order to identify more patients with POEMS syndrome among those who have endocrine dysfunctions. METHODS: We searched the inpatient medical record system of Peking University People's Hospital with "POEMS syndrome". Finally the data from 23 patients were analyzed. Epidata 3.0 was used for data entering and SPSS 19.0 was used for statistical analysis. RESULTS: The median age of all the 23 patients was 47 years. The ratio of male to female was 1.88:1. Polyneuropathy was the most common initial symptom which accounted for 56.5% in the 23 patients. The median duration from the initial symptoms to diagnosis as POEMS syndrome was 30 months. Among all the departments, the number of confirmed cases was highest in the department of neurology. The median duration from the onset of initial symptoms (6 months) to the diagnosis made in neurology department was also significantly shorter than in other departments. Among all the 23 patients, 100.0% of them had polyneuropathy, 82.6% had organomegaly, 95.7% had endocrinopathy, 52.2% were M protein positive, 91.3% had skin changes, 45.5% had papilledema, 43.5% had extravascular volume overload, 43.5% had platelet elevation and 17.4% had Castleman disease. Among all the patients with endocrinopathy, the incidence of hyperprolactinemia was 60.0% which was the highest one followed by thyroid dysfunction and adrenal dysfunction. Among the patients who had endocrine system dysfunctions, most of them had two target endocrine glands involved (36.5%). CONCLUSION: Endocrinopathy is an important component of POEMS syndrome and it is of great importance to pay more attention to POEMS syndrome in patients with thyroid dysfunction, adrenal dysfunction, gonadal dysfunction, parathyroid dysfunction, hyperprolactinemia and glucose intolerance, especially in patients with two or more target gland dysfunctions. Symptoms and signs of polyneuropathy should be assessed carefully to reduce misdiagnosis of POEMS syndrome. Evaluation of the endocrine system should also be done in patients diagnosed with POEMS syndrome in order to treat the patients properly.
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Síndrome POEMS/diagnóstico , Errores Diagnósticos , Enfermedades del Sistema Endocrino , Femenino , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Síndrome POEMS/terapiaRESUMEN
The role of the protozoan parasite Toxoplasma gondii in the pathogenesis of liver disease has recently gained much interest. The aim of this study was to determine the prevalence and risk factors associated with T. gondii infection in patients with liver disease from three cities in Shandong and Henan provinces, China. A case-control study was conducted from December 2014 to November 2015 and included 1142 patients with liver disease and 1142 healthy controls. Serum samples were collected from all individuals and were examined with enzyme-linked immunosorbent assay for the presence of anti-T. gondii IgG and IgM antibodies. Information on the demographics, clinical, and lifestyle characteristics of the participants was collected from the medical records and by the use of a questionnaire. The prevalence of anti-T. gondii IgG was 19·7% in patients with liver disease compared with 12·17% in the controls. Only 13 patients had anti-T. gondii IgM antibodies compared with 12 control individuals (1·14% vs. 1·05%, respectively). The highest seroprevalence was detected in patients with liver cancer (22·13%), followed by hepatitis patients (20·86%), liver cirrhosis patients (20·42%), and steatosis patients (20%). Multivariate logistic regression analysis indicated that consumption of raw meat (odds ratio (OR) = 1·32; 95% confidence interval (CI) 1·01-1·71; P = 0·03) and source of drinking water from wells (OR = 1·56; 95% CI 1·08-2·27; P = 0·01) were independent risk factors for T. gondii infection in liver disease patients. These findings indicate that T. gondii infection is more likely to be present in patients with liver disease. Therefore, efforts should be directed toward health education of populations at high risk of T. gondii infection and measures should be taken to protect vulnerable patients with liver disease.
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Hepatopatías/epidemiología , Toxoplasma/aislamiento & purificación , Toxoplasmosis/epidemiología , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , China/epidemiología , Ciudades/epidemiología , Ensayo de Inmunoadsorción Enzimática , Femenino , Humanos , Hepatopatías/parasitología , Masculino , Persona de Mediana Edad , Factores de Riesgo , Estudios Seroepidemiológicos , Toxoplasmosis/parasitologíaRESUMEN
By incorporating high-density markers into breeding value prediction models, the whole genomic prediction (WGP) method can effectively accelerate genetic improvement in livestock breeding. However, the performance of WGP varies across species and populations and is affected by the underlying genetic architecture. In particular, very little is known about the performance of WGP for many chicken breeds. Here we estimate the genetic parameters and evaluate the performance of WGP for 18 growth and carcass traits in a Chinese quality chicken population. In total, 435 chickens were systematically phenotyped and genotyped using a 600K genotyping array. Two variance component estimation scenarios, 3 breeding value prediction methods, and 2 validation procedures were compared. The results showed that the heritability of these 18 traits was medium to high (ranging from 0.28 to 0.60) and that deviations existed between the heritability estimated from pedigrees and markers. Compared with conventional breeding methods, WGP could potentially increase the selection accuracy by 20% or more depending on the prediction model used, the trait under consideration, and the genetic connectedness between the training and validation individuals. Our results showed the potential of implementing genomic selection in small breeding herds.
Asunto(s)
Pollos/genética , Genómica/métodos , Modelos Genéticos , Animales , Composición Corporal , Cruzamiento , Pollos/fisiología , Genoma , Genotipo , Linaje , Fenotipo , Polimorfismo de Nucleótido SimpleRESUMEN
OBJECTIVE: To explore the correlation of urinary cysteinyl leukotriene E4 (CysLTE4) and diagnosis of bronchopulmonary dysplasia (BPD) in premature infants. METHOD: One hundred and fifty-eight newborn infants were consecutively admitted to the neonatal intensive care units of First Affiliated Hospital of Nanjing Medical University from November 2014 to October 2015.The infants were divided into 3 groups according to the diagnosis on discharge.Sixty-one term infants were classified as having no pulmonary diseases, 52 premature infants were classified as without BPD, and 45 premature infants with BPD were diagnosed at 28 d after birth.Urinary CysLTE4 levels of newborns within 3 days after birth were measured in a blinded way by enzyme- linked immunosorbent assay and were compared among 3 groups, and were evaluated for the diagnostic value and the correlation of gestational age and birth weight.Statistical analysis was performed using correlation analysis, one-way analysis of variance and χ(2) test etc. RESULT: In infants with BPD, the mean urinary CysLTE4 level was (191.0±29.3) ng/L which significantly higher than the premature group without BPD ((164.1±22.7) ng/L) and term infant group ((151.6±41.9) ng/L, F=18.70, P<0.05). Urinary CysLTE4 level within 3 days of life in newborn inversely correlated with gestational age and birth weight (Pearson=-0.33, -0.38, P<0.01). The area under the curve was 0.78, 95%CI: 0.70-0.86, P<0.01, when cutoff was 187.7 ng/L, with Youden index 0.59, sensitivity 77.8% and specificity 81.4%, respectively. CONCLUSION: Urinary CysLTE4 level is up-regulated in BPD infants within early days of life which may be a useful biomarker of early diagnoses of BPD.