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1.
Nature ; 594(7863): 369-373, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-34135523

RESUMO

The central challenge in building a quantum computer is error correction. Unlike classical bits, which are susceptible to only one type of error, quantum bits (qubits) are susceptible to two types of error, corresponding to flips of the qubit state about the X and Z directions. Although the Heisenberg uncertainty principle precludes simultaneous monitoring of X- and Z-flips on a single qubit, it is possible to encode quantum information in large arrays of entangled qubits that enable accurate monitoring of all errors in the system, provided that the error rate is low1. Another crucial requirement is that errors cannot be correlated. Here we characterize a superconducting multiqubit circuit and find that charge noise in the chip is highly correlated on a length scale over 600 micrometres; moreover, discrete charge jumps are accompanied by a strong transient reduction of qubit energy relaxation time across the millimetre-scale chip. The resulting correlated errors are explained in terms of the charging event and phonon-mediated quasiparticle generation associated with absorption of γ-rays and cosmic-ray muons in the qubit substrate. Robust quantum error correction will require the development of mitigation strategies to protect multiqubit arrays from correlated errors due to particle impacts.

2.
Phys Rev Lett ; 132(1): 017001, 2024 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-38242669

RESUMO

The ideal superconductor provides a pristine environment for the delicate states of a quantum computer: because there is an energy gap to excitations, there are no spurious modes with which the qubits can interact, causing irreversible decay of the quantum state. As a practical matter, however, there exists a high density of excitations out of the superconducting ground state even at ultralow temperature; these are known as quasiparticles. Observed quasiparticle densities are of order 1 µm^{-3}, tens of orders of magnitude greater than the equilibrium density expected from theory. Nonequilibrium quasiparticles extract energy from the qubit mode and can induce dephasing. Here we show that a dominant mechanism for quasiparticle poisoning is direct absorption of high-energy photons at the qubit junction. We use a Josephson junction-based photon source to controllably dose qubit circuits with millimeter-wave radiation, and we use an interferometric quantum gate sequence to reconstruct the charge parity of the qubit. We find that the structure of the qubit itself acts as a resonant antenna for millimeter-wave radiation, providing an efficient path for photons to generate quasiparticles. A deep understanding of this physics will pave the way to realization of next-generation superconducting qubits that are robust against quasiparticle poisoning.

3.
Zhonghua Yu Fang Yi Xue Za Zhi ; 58(6): 815-822, 2024 Jun 06.
Artigo em Zh | MEDLINE | ID: mdl-38955728

RESUMO

Objective: To analyze the clinical features and risk factors of chest tightness variant asthma (CTVA) in children, so as to provide basis for the prevention and management of the disease. Methods: A cross-sectional study was conducted to analyze 178 children aged 6-17 years old who were admitted to the Department of Allergy, Capital Institute of Pediatrics Affiliated Children's Hospital from January 2021 to January 2023 due to chest tightness. The age was 8.83(7.50, 11.58) years old, with 89 males (50%) and 89 females (50%). According to the diagnosis of CTVA, 130 cases were divided into CTVA group and 48 non-CTVA cases were divided into control group. Demographic data, personal history, family history, clinical features, auxiliary examination results and other data were collected. The clinical characteristics, allergens, FeNO level and pulmonary function parameters of the two groups were analyzed. Logistic regression analysis was used to explore the risk factors of the disease. Results: The proportion of school-age children (6-11 years old) in CTVA group was higher than that of adolescent children (≥12 years old) [(113/130,86.9%) vs (26/48,54.2%),Z=21.985,P<0.01]. The proportion of CTVA combined with eczema [(74/130,56.9%) vs (19/48,39.6%), χ2=4.225,P<0.05] and rhinitis symptoms [(98/130,75.4%) vs (27/48,56.2%), χ2=6.138,P<0.05] was higher. The positive rates of mold sensitization [(52/130,40.0%) vs (11/48,22.9%), χ2=4.474,P<0.05] and multiple sensitization [(71/130,54.6%) vs (18/48,37.5%), χ2=4.108,P<0.05] in inhaled allergens were significantly higher than those of control group. The proportion of elevated FeNO (>20 ppb) in CTVA children was 20.8% (27/130), which was significantly higher than that in control group 4.2%(2/48)(χ2=7.086,P<0.01). There were no statistical differences in spirometry parameters FEV1 and FVC between CTVA group and control group (P both>0.05). FEV1/FVC, PEF, FEF25, FEF50, FEF75 and MMEF were significantly lower than those in control group (P all<0.05). Logistic regression analysis showed that rhinitis symptoms (OR=2.351, 95%CI 1.105-5.002, P=0.026), multiple sensitizations (OR=2.184, 95%CI 1.046-4.557, P=0.038), tIgE>60 kU/L(OR=3.080, 95%CI 1.239-7.654, P=0.015), FeNO>20 ppb (OR=6.734, 95%CI 1.473-30.796, P=0.014) and small airway dysfunction (OR=3.164, 95%CI 1.089-9.194, P=0.034) were risk factors for chest tightness variant asthma. FeNO combined with FEF50 has the largest area under the curve (Z=2.744, P<0.01) in diagnosing CTVA. Conclusion: CTVA is more common in school-age children than in adolescent children. Rhinitis symptoms, multiple sensitization, tIgE>60 kU/L, FeNO>20 ppb and small airway dysfunction are risk factors for chest tightness variant asthma. FeNO combined with small airway indexes can improve the diagnostic value of CTVA.


Assuntos
Asma , Humanos , Criança , Masculino , Feminino , Fatores de Risco , Asma/epidemiologia , Estudos Transversais , Adolescente , Alérgenos , Testes de Função Respiratória , Modelos Logísticos
4.
Zhonghua Yi Xue Za Zhi ; 103(24): 1842-1848, 2023 Jun 27.
Artigo em Zh | MEDLINE | ID: mdl-37357190

RESUMO

Objective: To establish a hysteroscopic chronic endometritis (hCE) scoring system for patients with chronic endometritis, and observe the correlation of hCE score with in vitro fertilization-embryo transfer (IVF-ET) pregnancy outcomes in infertile women. Methods: The study retrospectively investigated the correlation of morphologic features and hCE score with pregnancy outcomes during IVF-ET in infertile women with CE (n=429) at Yantai Yuhuangding Hospital between January 2017 and September 2018. The clinical pregnancy rate and live birth rate with different score levels (1-3,4-7 and 8-14) after IVF-ET treatment were analyzed. Multivariate regression analysis was performed to adjust for confounding factors. The correlation and regression between hCE score and pregnancy outcomes was analyzed by curve fitting. Results: The age of 429 patients [M(Q1, Q3)] was 31 (29, 35) years. There were 50.6% (217 cases), 35.4% (152 cases), and 14.0% (60 cases) of patients with hCE score of 1-3, 4-7, and 8-14, respectively. The pregnancy rates of the three groups were 60.8% (132 cases), 44.7% (68 cases) and 16.7% (10 cases), P<0.001; The live birth rates were 51.2% (111 cases), 36.8% (56 cases) and 13.3% (8 cases), respectively (P<0.001). Compared with patients with hCE of 1-3, pregnancy rates in those with hCE of 4-7 and 8-14 were lower, and the OR values were 0.521 (0.342-0.793) and 0.129 (0.062-0.268). The live birth rates in patients with hCE of 4-7 and 8-14 were lower than that in patients with hCE of 1-3, and the OR values were 0.570 (0.372-0.873) and 0.162 (0.073-0.360), all P<0.05. Quadratic curve fitting results showed that clinical pregnancy rate and live birth rate decreased with the increase of hCE score. Conclusions: With the increase of hCE score, the clinical pregnancy rate and live birth rate of patients gradually decrease. hCE 4 is an important cut-off threshold significantly affecting the pregnancy outcome.


Assuntos
Endometrite , Infertilidade Feminina , Feminino , Gravidez , Humanos , Resultado da Gravidez , Infertilidade Feminina/terapia , Fertilização in vitro , Estudos Retrospectivos , Transferência Embrionária/métodos , Taxa de Gravidez , Doença Crônica
5.
Zhonghua Yi Xue Za Zhi ; 103(34): 2639-2646, 2023 Sep 12.
Artigo em Zh | MEDLINE | ID: mdl-37475568

RESUMO

Chest tightness variant asthma (CTVA) was first reported and named by Chinese scholars in 2013. It is a new clinical type of asthma characterized by chest tightness as the only or primary symptom, without typical asthma manifestations such as recurrent wheezing and shortness of breath, and without wheezing sounds heard during lung auscultation. The overall epidemiological data on CTVA is currently unavailable. Its pathogenesis is similar to that of typical asthma, involving eosinophilic airway inflammation. Due to the lack of typical clinical manifestations, insufficient knowledge of this disease in some clinicians and some other reasons, CTVA is susceptible to misdiagnosis or missed diagnosis. Currently, the diagnostic criteria for CTVA are: chest tightness as the only or primary symptom, without typical asthma symptoms and signs such as wheezing and shortness of breath, and with any one of the objective indicators of variable airflow limitation. Effective anti-asthma treatment is required, and other diseases that cause chest tightness, such as cardiovascular, digestive, nervous, muscular, and mental diseases should be excluded. CTVA treatment follows that of typical asthma, but the specific treatment duration is uncertain and may require long-term management. Traditional Chinese medicine has shown some therapeutic effects on CTVA. Most CTVA patients have a good prognosis after active anti-asthma treatment. This paper analyzes and summarizes the research of CTVA in China from 2013 and provides new perspectives for further exploration of CTVA.


Assuntos
Antiasmáticos , Asma , Humanos , Sons Respiratórios , Asma/tratamento farmacológico , Dispneia/tratamento farmacológico , China
6.
Zhonghua Yi Xue Za Zhi ; 103(40): 3186-3192, 2023 Oct 31.
Artigo em Zh | MEDLINE | ID: mdl-37879872

RESUMO

Objective: To investigate the oncological outcomes of active surveillance (AS) in patients showing thyroid nodules measuring≤1 cm with highly suspicious ultrasound features. Methods: A prospective single-center cohort study. A total of 534 patients with highly suspicious thyroid nodules (2015 American Thyroid Association Nodule Sonographic Patterns and Risk of Malignancy: High Suspicion) were enrolled in this study, the patients received AS at Peking Union Medical College Hospital between January 2017 and November 2022 to assess oncological outcomes (disease progression, recurrence/metastasis rate, etc). The patients were followed up every 6 months for physical examination and neck ultrasound examination. And the value of tumor volume changes in evaluating tumor enlargement was explored too. Results: There were 413 females and 121 males in this cohort, with a mean age of (42.6±11.8) years. During a median follow-up period of 45.6 months (ranged from 3.5 to 176.0 months), disease progression occurred in 26 patients (4.9%) with highly suspicious thyroid nodules, characterized by a minimum 3-mm increase in tumor diameter in 19 patients (3.6%) and lymph node metastases in 7 patients (1.3%). Forty-seven (8.8%) patients opted for delayed surgery, with 29 patients due to a change in preference. There was no significant differences in pathologic and follow-up outcomes between patients with disease progression and preference change. Patients aged≤40 years had a higher cumulative incidence of 5-year disease progression than those aged>40 years (4.9% vs 1.9%, P=0.060). No patients experienced distant metastases or deaths. Among the 595 high-risk thyroid nodules with continuous volume assessment results and an increase in nodule diameter of less than 3 mm (including all high-risk nodules in patients with single or multiple nodules), 184 (30.9%) and 79 (13.3%) nodules exhibited volume increases of more than 50% and 100%, respectively, in multiple measurements. Among the nodules with volume changes exceeding 50% and 100%, the proportion of nodules with a baseline tumor diameter of≤0.5 cm was significantly higher than those with a diameter of>0.5 cm, at 69.0% vs 31.0% (P<0.001) and 77.2% vs 22.8% (P<0.001), respectively. Conclusions: Active surveillance in patients with highly suspicious subcentimeter thyroid nodules has good short-term oncological outcomes and can be considered a safe alternative to surgery. Due to the large variability in the measurement results of tumor volume, it is not suitable as an indicator for evaluating tumor enlargement.


Assuntos
Neoplasias da Glândula Tireoide , Nódulo da Glândula Tireoide , Masculino , Feminino , Humanos , Adulto , Pessoa de Meia-Idade , Nódulo da Glândula Tireoide/diagnóstico por imagem , Nódulo da Glândula Tireoide/patologia , Estudos de Coortes , Estudos Prospectivos , Conduta Expectante , Ultrassonografia/métodos , Estudos Retrospectivos , Progressão da Doença
7.
Zhonghua Yu Fang Yi Xue Za Zhi ; 57(3): 327-332, 2023 Mar 06.
Artigo em Zh | MEDLINE | ID: mdl-36922166

RESUMO

Chest tightness variant asthma (CTVA) is a special type of asthma with chest tightness as the only or main symptom. Due to the lack of typical asthma symptoms such as coughing, wheezing, shortness of breath, and positive signs in chest, it is easy to be missed or misdiagnosed in clinical practice. The onset of chest tightness variant asthma is insidious, and there is few research and attention both domestic and international, so there is no unified diagnosis and treatment standard especially in childhood asthma. This article expounds the related research advances in chest tightness variant asthma, in order to increase clinical attention and provide reference and basis for the prevention of the disease as well as the formulation of diagnosis and treatment strategies.


Assuntos
Asma , Humanos , Asma/tratamento farmacológico , Tosse , Inquéritos e Questionários , Registros
8.
Zhonghua Yu Fang Yi Xue Za Zhi ; 57(9): 1342-1347, 2023 Sep 06.
Artigo em Zh | MEDLINE | ID: mdl-37743293

RESUMO

Pet allergies are the type Ⅰ allergic reaction stimulated by allergens in pet dander, hair, and saliva and urine. Atopic individuals with pet allergies have mucosal and respiratory symptoms and casually severe anaphylaxis. Recently, the increasing presence of household pets in China has contributed to an increase in the prevalence of allergies to pets. Moreover, pet allergen sensitization is one of the critical risk factors for developing other allergic diseases, posing a major health problem. This article discussed the epidemiology, allergenic components, clinical features, diagnosis and management, and prevention of pet allergies, providing advice for prevention and treatment.


Assuntos
Alérgenos , Hipersensibilidade , Humanos , Hipersensibilidade/diagnóstico , Hipersensibilidade/terapia , China/epidemiologia , Cabelo , Fatores de Risco
9.
Zhonghua Yu Fang Yi Xue Za Zhi ; 57(4): 577-583, 2023 Apr 06.
Artigo em Zh | MEDLINE | ID: mdl-37032168

RESUMO

Polycystic ovary syndrome (PCOS) is a common endocrine disease in women of childbearing age, which seriously affects women's reproductive health. In recent years, more and more studies have found that serum anti-Müllerian hormone (AMH) has certain significance in the diagnosis and treatment evaluation of PCOS. In addition, with the improvement of detection methods, more attention has been paid to the significance of female androgens and AMH in the evaluation of PCOS. This article reviews the recent research progress of serum AMH and androgens in the evaluation of PCOS.


Assuntos
Síndrome do Ovário Policístico , Feminino , Humanos , Síndrome do Ovário Policístico/diagnóstico , Androgênios , Hormônio Antimülleriano
10.
Zhonghua Yu Fang Yi Xue Za Zhi ; 57(8): 1271-1279, 2023 Aug 06.
Artigo em Zh | MEDLINE | ID: mdl-37574323

RESUMO

Objective: To analyze the clinical characteristics of children with IgE-mediated cow's milk protein allergy (CMPA) and provide a basis for disease management and prevention. Methods: A cross-sectional study was conducted to analyze 142 children aged 0-12 years who were diagnosed with IgE-mediated CMPA in Capital Institute of Pediatrics Affiliated Children's Hospital from 2020 to 2022. There were 79 males (55.6%) and 63 females (44.4%), with an average age of 14 (8, 27) months. 61 cases (43.0%) were in the <1-year-old group, 54 cases (38.0%) in the 1-3-year-old group, and 27 cases (19.0%) in the >3-year-old group. Data on demographic data, clinical manifestations, mean wheel diameter of skin prick test and serum specific IgE level were collected. The serum cow's milk protein sIgE and component sIgE were measured by ImmunoCAP fully automated system of fluorescence enzyme-linked immunosorbent assay, and statistically analyzed using chi-square test, nonparametric tests, correlation. Results: Cutaneous symptoms were the first and most frequent in 142 children (97.9%, 139/142 cases), followed by digestive (29.6%, 42/142 cases) and respiratory symptoms (27.5%, 39/142 cases).The proportion of children with respiratory symptoms after consuming cow's milk was significantly higher in the>3 years age group than those in the infant and toddler groups(66.7% vs 19.7%,χ2=18.396,P<0.01;66.7% vs 16.7%,χ2=20.250,P<0.01), and the symptoms involving ≥3 systems were also significantly higher than those in the other two groups(37.0% vs 13.1%,χ2=6.597,P<0.05;37.0% vs 7.4%,χ2=12.120,P<0.01). The average cow's milk SPT diameter and serum sIgE levels in the>3 years age group were significantly higher than those in the infant and toddler groups (Z=-4.682, P<0.01; Z=-3.498, P<0.01); (Z=-4.463, P<0.01; Z=-6.463, P<0.01). The most common cow's milk component protein were ß-lactoglobulin(65.1%,56/86 cases) and casein (57.0%, 49/86 cases). Multiple-sensitization rate of the patients were 54.9%. Egg white (43.7%, 62/142 cases) was the most common co-sensitization food allergen while mold (12.7%, 18/142 cases) and weed pollen (12.7%, 18/142 cases) were the main co-sensitization aeroallergens. The proportion of multiple-sensitization to aeroallergens in the children group was the highest (51.9%, 14/27 cases), followed by the toddler group (29.6%, 16/54 cases), and the infant group was the least (3.3%, 2/61 cases). There was a significant difference among these three groups (χ2=7.476, P<0.05). Conclusion: Skin and mucosal symptoms are the most common in CMPA patients. The proportion of respiratory symptoms and multisystem involvement increased with age as well as the wheal diameter in skin test and serum sIgE level elevated. CMPA patients older than 3 years had the highest proportion of aeroallergen sensitization and airway allergic diseases.


Assuntos
Hipersensibilidade Alimentar , Hipersensibilidade a Leite , Masculino , Animais , Bovinos , Feminino , Criança , Humanos , Hipersensibilidade a Leite/diagnóstico , Estudos Transversais , Alérgenos , Imunoglobulina E
11.
Zhonghua Gan Zang Bing Za Zhi ; 31(4): 433-439, 2023 Apr 20.
Artigo em Zh | MEDLINE | ID: mdl-37248984

RESUMO

Drug-induced liver injury influencing factors are complex and have diverse clinical manifestations. Simple and reliable diagnostic methods are still deficient, and further classification of toxicological mechanisms is required. There are numerous pertinent discrepancies between domestic and international guidelines aimed at drug-induced liver injury diagnosis and treatment, with partial to no consensus on the content. The American Gastroenterological Association's 2021 Clinical Guidelines, the Asia-Pacific Association for the Study of the Liver's 2021 Consensus Guidelines, the Council for International Organizations of Medical Sciences' 2020 International Consensus, the European Society's Hepatology Committee's 2019 Clinical Practice Guidelines, and the 2015 Chinese Medical Association Guidelines are five influential clinical guidelines on drug-induced liver injury at home and abroad. The epidemiology, risk factors, diagnosis and evaluation, treatment management, and other contents, particularly traditional Chinese medicine, were compared and analyzed using other relevant consensus opinions or guidelines in order to improve understanding and provide a reference for clinical diagnosis and treatment of drug-induced liver injury.


Assuntos
Doença Hepática Induzida por Substâncias e Drogas , Humanos , Doença Hepática Induzida por Substâncias e Drogas/diagnóstico , Doença Hepática Induzida por Substâncias e Drogas/terapia , Medicina Tradicional Chinesa
12.
Zhonghua Gan Zang Bing Za Zhi ; 31(2): 181-185, 2023 Feb 20.
Artigo em Zh | MEDLINE | ID: mdl-37137834

RESUMO

Objective: To preliminarily evaluate the safety and efficacy of shunt-related interventional therapy accompanied with spontaneous portosystemic shunts (SPSS) in patients with hepatic encephalopathy (HE). Methods: Case data on six patients who underwent interventional therapy accompanied by SPSS for HE from January 2017 to March 2021 were collected to evaluate the efficacy and postoperative complications. Results: All six patients underwent SPSS. Four patients had hepatitis B cirrhosis; one had alcoholic cirrhosis; and one had hepatic arterioportal fistula-induced portal hypertension. Child-Pugh liver function scores were C and B in three and three cases, respectively. The SPSS type was gastrorenal shunt in two cases; portal-thoracic-azygos venous in two cases; portal-umbilical-iliac venous in one case; and portal-splenic venous - inferior vena cava in one case. Two of them had previously had a transjugular intrahepatic portosystemic shunt (TIPS), and there were SPSS prior to TIPS. Five cases (5/6) successfully underwent shunt embolization, and one case (1/6) underwent stent implantation for flow restriction (portal-umbilical-iliac vein). The technical success rate was 100%. HE did not recur during hospitalization or the three-month follow-up period. However, one case had a recurrence of HE within a year after surgery and was treated symptomatically, while another experienced gastrointestinal bleeding a year after surgery.. Conclusion: SPSS embolization or flow restriction is effective and safe for improving HE patients' symptoms.


Assuntos
Procedimentos Endovasculares , Varizes Esofágicas e Gástricas , Encefalopatia Hepática , Hipertensão Portal , Derivação Portossistêmica Transjugular Intra-Hepática , Humanos , Derivação Portossistêmica Transjugular Intra-Hepática/efeitos adversos , Encefalopatia Hepática/complicações , Hipertensão Portal/etiologia , Varizes Esofágicas e Gástricas/etiologia , Cirrose Hepática/complicações , Procedimentos Endovasculares/efeitos adversos , Resultado do Tratamento , Hemorragia Gastrointestinal/etiologia
13.
Zhonghua Gan Zang Bing Za Zhi ; 31(9): 974-985, 2023 Sep 20.
Artigo em Zh | MEDLINE | ID: mdl-37872094

RESUMO

Objective: To use metagenomic sequencing to compare the differences in intestinal microbiota species and metabolic pathways in patients with hepatitis B cirrhosis with or without ascites and further explore the correlation between the differential microbiota and clinical indicators and metabolic pathways. Methods: 20 hepatitis B cirrhosis cases [10 without ascites (HBLC-WOA), 10 with ascites (HBLC-WA), and 5 healthy controls (HC)] were selected from the previously studied 16S rRNA samples. Metagenome sequencing was performed on the intestinal microbiota samples. The Kruskal-Wallis rank sum test and Spearman test were used to identify and analyse differential intestinal microbiota populations, metabolic pathways, and their correlations. Results: (1) The overall structure of the intestinal microbiota differed significantly among the three groups (R = 0.19, P = 0.018). The HC group had the largest abundance of Firmicutes and the lowest abundance of Proteobacteria at the genus level. Firmicutes abundance was significantly decreased (P(fdr) < 0.01), while Proteobacteria abundance was significantly increased (P(fdr) < 0.01) in patients with cirrhosis accompanied by ascites; (2) LEfSe analysis revealed that 29 intestinal microbiota (18 in the HBLC-WA group and 11 in the HBLC-WOA group) played a significant role in the disease group. The unclassified Enterobacteriaceae and Klebsiella species in the HBLC-WA group and Enterobacteriaceae in the HBLC-WOA group were positively correlated with the Child-Turcotte-Pugh (CTP) score, prothrombin time, and international normalized ratio score and negatively correlated with albumin and hemoglobin levels (P < 0.05). Escherichia and Shigella in the HBLC-WA group were positively correlated with CTP scores (P < 0.05); (3) The correlation analysis results between the KEGG pathway and 29 specific intestinal microbiota revealed that Enterobacteriaceae and arachidonic acid, α-linolenic acid, glycerolipid metabolism, and fatty acid degradation were positively correlated in the lipid metabolism pathway, while most Enterobacteriaceae were positively correlated with branched-chain amino acid degradation and negatively correlated with aromatic amino acid biosynthesis in the amino acid metabolic pathway. Conclusion: A significant increment of Enterobacteriaceae in the intestines of HBLC-WA patients influenced hepatic reserve function and was associated with amino acid and lipid metabolic pathways. Therefore, attention should be paid to controlling the intestinal microbiota to prevent complications and improve the prognosis in patients with hepatitis B cirrhosis, especially in those with ascites.


Assuntos
Microbioma Gastrointestinal , Hepatite B , Humanos , Ascite/complicações , RNA Ribossômico 16S/genética , Cirrose Hepática/complicações , Hepatite B/complicações , Aminoácidos
14.
Niger J Clin Pract ; 26(4): 524-527, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37203120

RESUMO

Nephronophthisis (NPHP) is a common pediatric cystic kidney disease, accounting for approximately 10% of end-stage renal failure cases in children. NPHP is primarily diagnosed through the identification of indel mutations and copy number variants (CNVs), and patients carrying NPHP1 mutations usually progress to renal failure at a mean age of 13 years old. However, the association between CNVs containing NPHP1 variations and the progression of NPHP-induced disease remains unclear. Here, we report three NPHP patients in a family. The proband had developed stage 4 chronic kidney disease (CKD) at 9 years old, and her younger brother and older sister had developed renal failure at 8 and 10 years old, respectively. A genetic diagnosis showed that they carried two rare CNVs, including homozygous loss of NPHP1, MALL, ACTR1AP1, MTLN, and LOC100507334. Heterozygous deletions mainly consisted of non-coding RNA genes on both sides of the CNVs. The proband was in stage 4 of CKD while her brother had progressed to renal failure, probably due to more extensive heterozygous deletion of a 67.115 kbp fragment, which included LIMS3-LOC440895, LOC440895, GPAA1P1, ZBTB45P1, and LINC0112 genes. This report demonstrates that larger CNV deletions, including homozygous NPHP1, MALL, and MTLN mutations and heterozygous deletions, presumably accelerate disease progression. Therefore, early genetic diagnosis plays a crucial role in the intervention and prognosis of these patients.


Assuntos
Falência Renal Crônica , Insuficiência Renal Crônica , Humanos , Masculino , Criança , Feminino , Adolescente , Variações do Número de Cópias de DNA , Deleção de Sequência , Proteínas do Citoesqueleto/genética , Proteínas de Membrana/genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Falência Renal Crônica/genética , Insuficiência Renal Crônica/genética
15.
Zhonghua Yu Fang Yi Xue Za Zhi ; 56(6): 763-773, 2022 Jun 06.
Artigo em Zh | MEDLINE | ID: mdl-35785858

RESUMO

Objective: To analyze the sensitization characteristics and change of major allergens in children from 2010 to 2020 in Beijing, so as to provide basis for diagnosis, treatment and prevention of allergic diseases in children. Methods: A retrospective study was conducted to analyze the children who were suspected of allergic diseases and tested for serum immunoglobulin E (total IgE and specific IgE) in the children's Hospital Affiliated to the Capital Institute of Pediatrics from January 2010 to December 2020. A total of 45 746 children aged 0-17 years in Beijing were enrolled with a median (interquartile range) of 3.8 (2.5, 5.3) years. There were 28 918 boys (63.2%) and 16 828 girls (36.8%) and 14 984 cases (32.8%) in the infant group (<3 years old), 22 049 cases (48.2%) in the preschool group (3-6 years old), and 8 713 cases (19.0%) in the school-age group (6 years old and above). Immunocap allergen detection system (fluorescence enzyme-linked immunosorbent assay) was used to detect and the characteristics and change trend of allergens during 11 years were statistically analyzed by Chi square test. Results: The top three positive rates of single food allergens sIgE were egg white 42.6% (2 788/6 577 tests), milk 38.4% (2 606/6 782 tests) and wheat 31.8% (1 417/4 449 tests), and the sequence of single inhaled allergens were Ragweed 42.6% (440/1 034 tests), Artemisia 38.4% (1 045/3 191 tests) and Alternaria alternata 31.3% (3 358/10 725 tests). The positive detection rates of egg white 47.0%(1 904/4 048 tests), milk 41.9%(1 769/4 226 tests) and wheat 33.9%(973/2 870 tests) in the infant group were the highest, and there have statistically significant(χ2=91.495, 73.907, 16.966, P<0.05). The positive rates of fx1 (22.5%, 121/537 tests), peanut (24.9%, 111/446 tests), soybean (20.0%, 74/370 tests) and shrimp (7.48%, 44/588 tests) were the highest in the school-age group(χ²=14.436, 10.751, 11.569, 13.703, P<0.05). The most common inhaled allergens were Alternaria alternata (14.8%, 422/2 859 tests) in the infant group, Ambrosia (34.5%, 143/415 tests) and Alternaria alternata (33.5%, 1 762/5 254 tests) in the preschool group, while in the school-age group were Ambrosia (56.4%, 282/500 tests) and Artemisia (48.2%, 573/1 189 tests). The positive rates of egg white, milk, wheat, sesame seed and peanut varied from 2010 to 2020, showing a trend of falling first and then rising(χ²=10.293,χ²=12.066,χ²=7.402,χ²=32.458,χ2=31.747,P<0.05).The positive detection rates of soybean showed a significant downward trend (21.4%, 173/809 tests in 2010, 15.4%, 70/455 tests in 2020, χ²=6.751,P=0.009), while that of shrimp and crab were at a stable low level(χ²=0.263, 1.346;P>0.05). From 2010 to 2020, mold (26.7%, 1 066/3 998 tests in 2010, 40.2% 1 705/4 243 tests in 2020), grass pollen (19.8%, 259/1 308 tests in 2010, 39.3%, 1 472/3 746 tests in 2020), tree pollen(17%, 180/1 058 tests in 2010, 29.8%, 916/3 075 tests in 2020) and animal dander (18.5%, 111/601 tests in 2010, 26.6%, 672/2 522 tests in 2020) were all showed significant upward trend (χ²=168.600, 163.601, 65.931 and 17.271 respectively, P<0.001) but dust mites (30.7%, 1 270/4 132 tests in 2010, 26.7%, 1 126/4 221 tests in 2020) showed a significant downward trend(χ²=16.822,P<0.001).In 2010, the most common inhaled allergen was dust mite 30.7% (1 270/4 132 tests), followed by mold 26.7% (1 066/3 998 tests), while they were mold 40.2% (1 705/1 243 tests), and grass pollen 39.3% (1 472/3 746 texts) respectively in 2020. Conclusion: In the past 11 years, the main food allergens in children were still egg white and milk, wheat, but the mold and pollen gradually replaced dust mite as the most common inhaled allergen.


Assuntos
Alérgenos , Pediatria , Alternaria , Animais , Criança , Pré-Escolar , Poeira , Hospitais , Humanos , Imunoglobulina E , Leite , Estudos Retrospectivos
16.
Zhonghua Gan Zang Bing Za Zhi ; 30(6): 577-582, 2022 Jun 20.
Artigo em Zh | MEDLINE | ID: mdl-36038317

RESUMO

There is an increasing histological clinical evidence that both hepatic fibrosis and some degree of cirrhosis reversal can improve prognosis. Hepatic fibrosis involves a variety of cells and steps, and its reversal mechanism is also very complex, mainly including the reduction of hepatocyte necrosis and regeneration, the apoptosis and inactivation of activated hepatic stellate cells, and the reversal of hepatic sinusoidal endothelial cells and microvessels, restorative hepatic macrophages polarization and cell-to-cell interactions. Furthermore, the biochemical basis for reversal of hepatic fibrosis is decreased expression of matrix metalloproteinase inhibitors, up-regulation of matrix metalloproteinase activity, and increased degradation of extracellular matrix. However, at present, there are few studies on the clinicopathological mechanism of liver fibrosis reversal, and the key target groups of different etiologies with different degrees are still unclear, and the corresponding translational application research is lacking. Therefore, an in-depth and systematic understanding of the characteristics and mechanisms of hepatic fibrosis reversal can not only enrich the understanding of the natural history of hepatic fibrosis and cirrhosis, but also provide reference for the development and clinical application of anti-hepatic fibrotic drugs.


Assuntos
Células Endoteliais , Hepatopatias , Fibrose , Células Estreladas do Fígado/metabolismo , Humanos , Fígado/patologia , Cirrose Hepática/patologia , Hepatopatias/patologia
17.
Zhonghua Zhong Liu Za Zhi ; 43(7): 769-774, 2021 Jul 23.
Artigo em Zh | MEDLINE | ID: mdl-34289571

RESUMO

Objective: To investigate the effect of long non-coding RNA HOTAIR (LncRNA HOTAIR) on the proliferation, apoptosis and drug resistance of Wilms tumor cells and its molecular mechanism. Methods: Collected nephroblastoma tissues and normal tumor side tissues in 32 children with renal syblastoma surgical treatment at Zhengzhou University Children's Hospital from 2015 to 2019. Real-time quantitative reverse transcription polymerase chain reaction, (qRT-PCR)was used to detect the expression of HOTAIR in Wilms tumor tissues and adjacent tissues. Small interfering RNA technology was used to delete the expression of HOTAIR in Wilms tumor cell SK-NEP-1. Cell counting kit-8 (CCK-8)was used to detect cell proliferation after transfection. Flow cytometry and terminal deoxynucleotidyl transferase mediated dUTP nick-end labeling (TUNEL) staining to detect the apoptosis. Western blot was used to detect the expression of Wnt/ß-catenin signaling pathway related proteins.CCK-8 was used to detect the proliferation inhibition of cells treated with different concentrations of cisplatin after transfection. Results: Compared with adjacent tissues, HOTAIR was highly expressed in Wilms tumor tissues (P<0.05). The expression levels of Wnt, ß-catenin, Cyclin D1, c-myc in the control group were (0.89±0.08), (0.94±0.10), (0.72±0.06), (1.10±0.11), and (1.06±0.11), (0.92±0.08), (0.66±0.07), (1.25±0.11) of the si-RNA group, while (0.54±0.05), (0.41±0.05), (0.25±0.03), (0.56±0.06) of the si-HOTAIR group. The expression levels of these protein were significantly down-regulated in the si-HOTAIR group when compared with the control group and the si-RNA group (P<0.05). The absorbance (A) values of SK-NEP-1 cells in the si-HOTAIR group at 24, 48 and 72 hours after transfection were (0.31±0.02), (0.37±0.04), (0.69±0.07), significantly lower than (0.49±0.05), (0.78±0.08), (1.22±0.14) in the control group and (0.57±0.06), (0.68±0.07), (0.94±0.09) in the si-RNA group (P<0.05). The apoptosis rate in the si-HOTAIR group was (13.81±1.25)%, significantly higher than (6.54±0.72)% in the control group and (4.35±0.40)% in the si-RNA group (P<0.05). The cell positive rate of TUNEL cells in the si-HOTAIR group was (35.14±3.50)%, significantly higher than (20.16±2.18)% in the control group and (21.09±2.35)% in the si-RNA group (P<0.05). The median inhibitory concentration (IC(50)) of the si-HOTAIR group was (62.48±5.97) µmol/L, significantly lower than (88.27±9.05) µmol/L of the control group and (92.50±9.11) µmol/L of the si-RNA group (P<0.05). Conclusions: Suppression of LncRNA HOTAIR can inhibit the proliferation of Wilms tumor cells, promote cell apoptosis, decrease cell resistance to cisplatin. The mechanism may be related to the inhibition of Wnt/ß-catenin signaling pathway activation.


Assuntos
Neoplasias Renais , RNA Longo não Codificante , Tumor de Wilms , Apoptose , Linhagem Celular Tumoral , Proliferação de Células , Criança , Resistência a Medicamentos , Humanos , Neoplasias Renais/genética , RNA Longo não Codificante/genética , Tumor de Wilms/genética , Via de Sinalização Wnt , beta Catenina/genética , beta Catenina/metabolismo
18.
Zhonghua Yu Fang Yi Xue Za Zhi ; 55(7): 840-846, 2021 Jul 06.
Artigo em Zh | MEDLINE | ID: mdl-34304420

RESUMO

Objective: To analyze the characteristics of clinical distribution and change of aeroallergens in children with allergic diseases from 2015 to 2020. Methods: Children who visited Capital Institute of Pediatrics affiliated Children's Hospital, suspected of allergic diseases and received serum aeroallergens specific immunoglobulin E (sIgE) test were retrospectively enrolled (1 to 14 years old). sIgE was detected by Phadia1000 system with radioallergosorbent test fluorescent enzyme-linked immunoassay. The characteristics and change of the aeroallergens among the 6 years was analyzed. Enumeration data were expressed by percentage and categorical variables were compared by the independent samples t-test and Pearson χ2 test. Results: In total 4 608 tests (4 575 patients) of children were enrolled, the average age was (5.4±2.9) years old, with the median age of 5.0 years old. 3 176 were boys (68.9%), and 1 432 were girls (31.1%). 4 294 children were from the north of China (93.2%), 295 children were from the south of China (6.4%), and 19 children were from unknown regions (0.4%). In total the most common aeroallergen was mold mixture (1 956/4 457 tests, 43.9%) and Alternaria alternata (276/630 tests, 43.8%), followed by Artemisia (300/889 tests, 33.7%), Humulus scandens (12/38 tests, 31.6%) and grass mixture (909/2 874 tests, 31.6%). Among the 6 years, mold, grass pollen and tree pollen sensitization increased, and mold [38/130 (29.2%) vs 1 574/3 233 (48.7%)], grass pollen [11/77 (14.3%) vs 1 069/3 072 (34.8%)] increased significantly (χ2 was 18.953 and 49.559, respectively, P=0.000). Positive rate of tree pollen increased [1/10 (10.0%) vs 516/2 122 (24.3%)], but did not have statistical significance (χ²=1.111, P=0.292). Dust mite [36/146 (24.7%) vs 321/1 408 (22.8%)] and hair of pets [7/33 (21.2%) vs 321/1 408 (17.1%)] sensitization didn't change greatly (χ2 =0.258, P =0.611; χ2 =0.379, P =0.538). In 2015, the most common aeroallergens was mold (38/130, 29.2%), followed by dust mite (36/146, 24.7%), while in 2020, the most common aeroallergens was still mold (1 574/3 233, 48.7%), with grass pollen (1 069/3 072, 34.8%) and tree pollen (516/2 122, 24.3%) ranked after. Conclusion: Mold might be the most common aeroallergens in allergic children in Beijing area. With time went on, dust mite was gradually exceeded by grass pollen and tree pollen.


Assuntos
Alérgenos , Pediatria , Adolescente , Alternaria , Criança , Pré-Escolar , China , Feminino , Hospitais , Humanos , Lactente , Masculino , Estudos Retrospectivos
19.
Fa Yi Xue Za Zhi ; 37(4): 527-532, 2021 Aug.
Artigo em Zh | MEDLINE | ID: mdl-34726007

RESUMO

ABSTRACT: Abstract: Objective To analyze the first epidemic spread of the novel coronavirus Delta variant in China based on public security forensic perspective, investigate its transmission characteristics, contributing factors, and epidemiologic research experience, and provide a reference for the prevention and control of the epidemic caused by the novel coronavirus variant. Methods Based on the information that public security forensic experts obtained from front-line epidemiologic research, the gender, age, place of residence, transmission route and infectivity of the coronavirus disease 2019 (COVID-19) confirmed cases, asymptomatic infected persons and their close contacts in Guangzhou caused by the novel coronavirus Delta variant were analyzed. The basic reproduction number (R0) during this epidemic in Guangzhou was calculated. Results Among the 153 cases infected with novel coronavirus Delta variant in the epidemic, 63 cases were male and 90 cases were female, their age ranging from 1 to 92 years, with a median age of 49 years. The main route of transmission was close contact, including dining together, co-living, and close contact in the same residential building. There were 31 cases of family clusters, 25 of which were in Liwan District. The epidemic lasted from May 26 to May 29, and the R0 remained above 4.0. After May 30, R0 began to decline and remained below 1.0 from June 7. Conclusion The novel coronavirus Delta variant is highly infectious, the crowd is generally susceptible to infection and family cluster cases are easy to occur. So, it is necessary to precisely prevent and control this strain. Public security forensic experts have both medical literacy and criminal investigation capabilities, they can play a more professional role in epidemic prevention and control.


Assuntos
COVID-19 , Epidemias , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , China/epidemiologia , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , SARS-CoV-2 , Adulto Jovem
20.
Zhonghua Gan Zang Bing Za Zhi ; 28(7): 580-585, 2020 Jul 20.
Artigo em Zh | MEDLINE | ID: mdl-32791793

RESUMO

Objective: To observe the alteration of clinical features of intrahepatic lymphocyte subsets in C57BL/6N-TG (1.28HBV)/Vst hepatitis B virus (HBV) transgenic mice composite carbon tetrachloride (CCl(4)) with intraperitoneal injection under the background of hepatitis B to induce liver fibrosis mice model, and analyze their correlation with serum HBV DNA and liver tissue hydroxyproline (Hyp) content. Methods: HBV-Tg mice were intraperitoneally injected with 10% CCl(4) to induce the rapid formation of hepatic fibrosis. Serum HBV DNA, HBsAg, HBeAg levels and liver tissue HBsAg expressional conditions were used to evaluate the virological characteristics of mice model. The degree of hepatic inflammation and fibrosis in mice were observed by HE, Sirius Red staining and liver tissue hydroxyproline (Hyp) content. Intrahepatic T lymphocyte, B lymphocyte, CD4+T lymphocyte, CD8+T lymphocyte, natural killer (NK) cell and natural killer T (NKT) cells distribution were observed by flow cytometry. One-way analysis of variance was used for intergroup data comparison, and LSD was used for pairwise comparison. Pearson's correlation analysis was used to analyze the correlation between the above lymphocyte subsets and serum HBV DNA and liver tissue Hyp content. Results: Serum HBsAg, HBeAg and liver tissue HBsAg had equal positive expression in the HBV-Tg composite CCl(4) mice model group, and the serum HBV DNA load was > 1 × 10(6) IU / ml. Compared with the wild-type control group, liver tissue Hyp content of the composite model group was significantly higher [(196.39 ± 38.14) µg /g and (347.67 ± 59.53) µ g/g, P < 0.01). The degree of inflammation and fibrosis in liver tissues was aggravated, and the proportion of all intrahepatic CD4+T, NK and NKT cells was significantly reduced (P < 0.01), while the proportion of CD8+T lymphocytes (30.58% ± 2.89% vs. 46.50% ± 2.24%, P < 0.01) and B lymphocytes (28.82% ± 2.24% vs. 37.10% ± 8.59%, P < 0.05) was significantly increased. Serum HBV DNA level was positively correlated with the proportion of intrahepatic T lymphocytes (r = 0.413, P < 0.05), and negatively correlated with the proportion of NK cells (r = -0.419, P < 0.05). Liver tissue Hyp content was negatively correlated with the proportion of all CD4+T lymphocytes (r = -0.871), NK cells (r = -0.716), and NKT cells (r = -0.876) (all P < 0.01), and positively correlated with the proportion of all CD8 + T lymphocytes (r = 0.852), and B lymphocytes (r = 0.593) (all P < 0.01). Conclusion: HBV-Tg composite CCl4 mice model can induce positive HBV virological indicators, liver inflammation and fibrosis in mice model of hepatitis B coexisting with fibrosis. This model has the features of immune disorder of liver lymphocyte similar to human disease, and the immune disorder of intrahepatic lymphocytes is correlated with HBV viral load and liver fibrosis degree.


Assuntos
Hepatite B Crônica , Cirrose Hepática/virologia , Subpopulações de Linfócitos/citologia , Animais , DNA Viral/sangue , Modelos Animais de Doenças , Antígenos E da Hepatite B/sangue , Vírus da Hepatite B/genética , Hepatite B Crônica/patologia , Hidroxiprolina/análise , Fígado/patologia , Cirrose Hepática/induzido quimicamente , Cirrose Hepática/patologia , Camundongos , Camundongos Endogâmicos C57BL
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