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1.
Zhonghua Yi Xue Za Zhi ; 102(31): 2441-2445, 2022 Aug 23.
Artigo em Zh | MEDLINE | ID: mdl-36000373

RESUMO

Objective: To analyze the clinical phenotype and detect the pathogenic gene in a Chinese pedigree with autosomal dominant polycystic kidney disease(ADPKD). Methods: The proband of this study was hospitalized in Dongguan City People's Hospital on October 10, 2017, due to "left maxillary apical cyst". Clinical phenotypes were noted, imaging examinations and determination of biochemical indicators were carried out for the clinical diagnosis of the proband. Genomic DNA was extracted from peripheral venous blood. Whole-exome genotyping of the proband was performed with the next generation sequencing technology, and the candidate mutation site of the patient and his family members was verified by PCR and Sanger sequencing technology. The mutation site was further screened in 150 unrelated healthy Chinese controls. Mutation frequency within human populations and bioinformatics analysis were predicted with softwares including ExAC, dbSNP, HGMD, 1000 genomes, ClinVar, PKDB, Mutation Taster and PhyloP. Results: The proband, a 46-year-old male, was diagnosed with hypertension, positive urine occult blood and elevated blood creatinine. B-ultrasound and CT examinations showed that he had bilateral polycystic kidney with left kidney stones and polycystic liver. The gene analysis showed that the c.11017-10C>A heterozygous splice mutation in PKD1 gene was identified in the proband, his second younger brother, younger sister, daughter and niece, but absent in 150 healthy controls. Bioinformatics analysis showed it has been reported in the dbSNP, ClinVar, HGMD, PKDB and Mutation Taster databases. Some databases predicted it has a harmful function for probably leading to production of a truncated polycystin1(PC1) protein. Conclusion: c.11017-10C>A underlies the Chinese ADPKD pedigree and expands mutation spectrum of PKD1.


Assuntos
Rim Policístico Autossômico Dominante , Canais de Cátion TRPP/genética , Povo Asiático , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Rim Policístico Autossômico Dominante/diagnóstico , Rim Policístico Autossômico Dominante/genética
2.
Zhonghua Yu Fang Yi Xue Za Zhi ; 56(12): 1767-1773, 2022 Dec 06.
Artigo em Zh | MEDLINE | ID: mdl-36536564

RESUMO

Objective: To investigate the value of stool-based methylated SDC2 test in physical examination population for the screening of colorectal neoplasms. Methods: Using the prospective cohort study method, from December 2020 to November 2021, 2 107 participants from the First People's Hospital of Xiushui County, Jiangxi Province were enrolled, consisted of 1 012 males and 1 094 females, aged 20-90 years with the median age of 49 years old. Fresh stool samples were collected and SDC2 DNA methylation tests were carried out as the primary screening method. The participants with positive results were recommended to undergo colonoscopy, and those who were negative were followed up by telephone. The positive rate of screening, the compliance of colonoscopy, and the detection of colorectal lesions were analyzed by chi-square test. Combined the follow-up results of negative subjects, the value of SDC2 DNA methylation test for the screening of colorectal neoplasms was evaluated. Results: Among the 2 107 participants, 2 106 completed the SDC2 methylation test. 113 participants (5.4%) were positive. The positive rate of primary screening increased with age significantly (χ2=32.135, P<0.001). Out of 113 cases, 72 (63.7%) underwent colonoscopy examinations. Finally, 3 (4.2%) cases of colorectal cancer, 12 (16.7%) cases of advanced adenoma, 31 (43.1%) cases of non-advanced adenoma, and 16 (22.2%) cases of non-adenomatous polyp were detected. The positive predictive value (PPV) of stool-based SDC2 DNA methylation test for intestinal lesions and colorectal neoplasms were 86.1% and 63.9%, respectively. Among the 1 374 follow-up participants, the negative predictive value (NPV) of this test for intestinal lesions and colorectal neoplasms were 97.7% and 99.4%, respectively. Conclusion: Primary stool-based SDC2 DNA methylation test and subsequent colonoscopy examination can effectively find colorectal neoplasms. This strategy may be a potential tool for the screening of colorectal neoplasms in general risk population.


Assuntos
Neoplasias Colorretais , Detecção Precoce de Câncer , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Colonoscopia , Neoplasias Colorretais/diagnóstico , Metilação de DNA , Detecção Precoce de Câncer/métodos , Fezes , Programas de Rastreamento/métodos , Exame Físico , Estudos Prospectivos , Sensibilidade e Especificidade , Sindecana-2/genética , Adulto Jovem , Adulto , Idoso , Idoso de 80 Anos ou mais
3.
Zhonghua Bing Li Xue Za Zhi ; 49(7): 693-698, 2020 Jul 08.
Artigo em Zh | MEDLINE | ID: mdl-32610380

RESUMO

Objective: To study clinical pathological characteristics, immunohistochemical, molecular genetical changes and prognosis in pediatric eosinophilic solid and cystic renal cell carcinoma (ESC RCC) with TSC2 gene mutations. Methods: The tissue samples were collected from two pediatric ESC RCC patients between 2017 and 2018. The tissues were subjected to histological examination and immunohistochemistry using EnVision system. The TFE3, TFEB gene rearrangements were tested using FISH and molecular genetic study. The paraffin sections were used for DNA extraction, PCR amplification and NGS sequencing. Results: The two patients with ESC RCC were both male, aged at 9 years and 8 months, and 13 years, respectively. The tumors were from the right kidney, 5 cm and 7 cm in size, respectively, with solid and cystic changes in cross section, and grey-reddish or grey-whitish fish meat appearance. Microscopic observation revealed the tumors had fibrous capsules, which were infiltrated by the tumor cells. The tumor cells were diffusely distributed, round-shaped, or polygon-shaped, and had voluminous cytoplasm, eosinophilic cytoplasm, various sizes of vacuoles and clear cell-like appearance. There were papillary structures in some areas, with visible fiber septa. The nuclei were round and vesicular, with multi-nucleated cells and megakaryocytes. The mitoses were not seen. A few cystic structures were visible in different sizes, and capsule walls were covered with a single layer of spike-like tumor cells. Thick-walled blood vessels were seen in the stroma, with focal lymphocytic infiltration, eosinophilic necrosis, calcifications and cholesterol crystals. Immunohistochemistry of the tumor cells was positive for PAX8 (diffuse), CK20 (focal), CKpan (focal), CK10 (1 focal, 1 diffuse), INI1, vimentin, CD68, and Ki-67 (5%~10%); the tumor cells were negative for HMB45, S-100, Melan A, p53, desmin, TFE3, CK7, CK19, EMA, CD56, CgA, Syn, CD30, CD117, WT1 and SMA. Molecular genetic study showed that TFE3 and TFEB gene rearrangements were not detected by FISH. NGS sequencing showed TSC2 p.Lys574Ter (0.198) was found in patient one and TSC2 p.Arg406Ter (0.355) in patient two. Conclusions: ESC RCC in children is a rare disease, and can be misdiagnosed easily. It has unique pathological characteristics, and immunohistochemical, molecular and genetic changes. The prognosis is relatively good.


Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Proteína 2 do Complexo Esclerose Tuberosa/genética , Adolescente , Biomarcadores Tumorais , Carcinoma de Células Renais/genética , Criança , Humanos , Imuno-Histoquímica , Neoplasias Renais/genética , Masculino , Mutação
4.
Oral Dis ; 25(2): 439-446, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29575674

RESUMO

Hereditary dentin disorders include dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), which are autosomal dominant diseases characterized by altered dentin structure such as abnormality in dentin mineralization and the absence of root dentin. Shields classified DGI into three subgroups and DD into two subtypes. Although they are all hereditary dentin diseases, they do not share the same causative genes. To date, the pathogenic genes of DGI type I, which is considered a clinical manifestation of syndrome osteogenesis imperfecta, include COL1A1 and COL1A2. Mutations of the DSPP gene, which encodes the dentin sialophosphoprotein, a major non-collagenous protein, are responsible for three isolated dentinal diseases: DGI-II, DGI-III, and DD-II. However, DD-I appears to be special in that researchers have found three pathogenicity genes-VPS4B, SSUH2, and SMOC2-in three affected families from different countries. It is believed that DD-I is a genetically heterogeneous disease and is distinguished from other types of dentin disorders. This review summarizes the DD-I literature in the context of clinical appearances, radiographic characteristics, and functions of its pathogenic genes and aims to serve clinicians in further understanding and diagnosing this disease.


Assuntos
ATPases Associadas a Diversas Atividades Celulares/genética , Proteínas de Caenorhabditis elegans/genética , Proteínas de Ligação ao Cálcio/genética , Displasia da Dentina/diagnóstico , Displasia da Dentina/genética , Dentinogênese Imperfeita/diagnóstico , Complexos Endossomais de Distribuição Requeridos para Transporte/genética , Fosfoproteínas Fosfatases/genética , Displasia da Dentina/patologia , Diagnóstico Diferencial , Heterogeneidade Genética , Humanos
5.
Br Poult Sci ; 59(5): 494-505, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30004246

RESUMO

1. Adipose differentiation related protein (ADFP), fatty acid transport protein 1 (FATP1) and apolipoprotein B (APOB) are suspected to play an important role in determining intramuscular fat and in overall meat quality. 2. Yunnan's top six famous chicken breeds (the Daweishan Mini, Yanjin Black-bone, Chahua, Wuding, Wuliangshan Black-bone and Piao chicken) are known for the high quality of their meat, but little is known about their expression of these three genes. 3. The present study aimed to examine the ADFP, FATP1 and APOB genes in different tissues of these six breeds at different development stages. The subcutaneous fat from the back midline and front, abdominal fat, liver and muscle tissue was sampled at 28, 49, 70, 91 and 112 days. The expression of ADFP, FATP1 and APOB was measured by real-time PCR. 4. The results showed that the expression of the three genes differed depending on age, tissue types and breeds. However, the expression of the three genes correlated with fat traits. In conclusion, the expression of the ADFP, FATP1 and APOB genes is associated with the fat traits of Yunnan's top six chicken breeds. These results could help with molecular marker screening and marker-assisted breeding to improve the quality of poultry for meat production.


Assuntos
Tecido Adiposo/metabolismo , Apolipoproteínas B/genética , Cruzamento , Galinhas/fisiologia , Proteínas de Transporte de Ácido Graxo/genética , Perilipinas/genética , Animais , Biomarcadores/análise , Galinhas/genética , China , Perfilação da Expressão Gênica , Músculos/metabolismo , Perilipina-2 , Fenótipo , Aves Domésticas/genética , Aves Domésticas/fisiologia , RNA Mensageiro , Reação em Cadeia da Polimerase em Tempo Real
7.
Genet Mol Res ; 14(2): 3879-88, 2015 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-25966159

RESUMO

We evaluated the relationship between total serum immunoglobulin E (IgE) levels and pregnancy outcome in a prospective cohort study focusing on fetal growth restriction (FGR). Sixty women with FGR and twenty with normal singleton pregnancy were enrolled during their third trimester. Infants were followed up for 6 months. Blood samples were obtained from pregnant women during the third trimester; cord blood samples were also taken. Six months after birth, blood samples were obtained from infants. Demographic and baseline characteristics were compared between groups. Birth weight, length and head circumference of neonates in the FGR group were lower than those in the control group. Total serum IgE level was significantly increased in third-trimester pregnant women with FGR compared with normal group (P < 0.05). However, this trend was not observed in the cord blood at birth or peripheral blood of 6-month-old infants. The prevalence of atopic eczema between the 2 groups was similar. Linear regression analysis revealed that the IgE level in the third trimester was negatively correlated with birth weight (P < 0.05). Higher serum IgE level in the cord blood was significantly associated with an increased risk of being small for gestational age (P < 0.05). In conclusion, IgE levels in the third trimester of pregnancy and cord blood are strongly related to birth outcomes of FGR.


Assuntos
Retardo do Crescimento Fetal , Imunoglobulina E/sangue , Resultado da Gravidez , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Recém-Nascido , Doenças do Recém-Nascido , Gravidez , Estudos Prospectivos
8.
West Indian Med J ; 64(5): 533-539, 2015 12.
Artigo em Inglês | MEDLINE | ID: mdl-27400057

RESUMO

Objective: To study clinical semi-permeability tolerance level in the field of dental restoration. Method: Vita 95 enamel porcelain powder was adopted and 6.0% used as the control transmissivity. Discoid porcelain plates with different transmissivity, namely increasing transmissivity (0.25%, 0.5%, 1.0%, 1.5%, 2%, 2.5%, 3%, 3.5%, 4% and 4.5%) and decreasing transmissivity (-0.25%, -0.5%, -1.0%, -1.5%, -2%, -2.5%, -3% and -3.5%) were made. Forty observers judged these according to six grades: same, similar, slightly different, visibly different, recognizable and significantly different, and under the observation conditions of a neutral grey background and 45°/0° lighting. The judgment results were analysed statistically. Results: When the transmissivity of the control porcelain plates was 6.032%, and the transmissivity of test porcelain plates decreased by 1% or increased by 3%, observers could find slight differences between the test samples and the control samples. When transmissivity of test samples decreased by 2.5% or increased by 4.5%, observers thought that the two porcelain plates belonged to different orders of magnitude. Conclusions: Under the experimental conditions, the upper and lower limits of clinical semi-permeability tolerance were 3% and 1%, respectively.

9.
Int J Obes (Lond) ; 38(10): 1312-6, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25002146

RESUMO

OBJECTIVE: We aimed to evaluate the current status of sexual maturation of Chinese children, to examine the association between obesity and early sexual maturation in boys and compare it with girls and to test the hypothesis that the associations differ by gender. STUDY DESIGN: Cross-sectional study. SUBJECTS: A representative sample involving 9812 boys and 8895 girls aged 6-18 years who participated in the Chinese Children and Adolescent Metabolic Syndrome Epidemiologic Study (July 2009- July 2010) were surveyed. METHODS: All subjects had complete anthropometry and sexual maturation data. SUBJECTS who reached Tanner stage 2 or more (5601 boys and 6538 girls) were divided into tertiles based on the timing of sexual maturation. The subjects in the earliest tertile were included into the early-maturing group, and the middle tertile and the latest tertile into the not early-maturing group. Overweight was defined as a body mass index (BMI) ⩾85th percentile and obesity ⩾95th percentile. Logistic regression analysis was used to test how early maturation affected the risk of overweight. Multiple linear regression was used to examine the association between fatness (BMI Z-score) and sexual maturation. RESULTS: Slightly more boys were obese than girls (P<0.01). The median age for girls of the Tanner stage 2 was 9.69 years, and for boys of Tanner stage 2 was 11.25 years. BMI Z-score were higher (P<0.01) in both early-maturing girls and boys, compared with the non-early maturers, respectively. Early sexual maturation was positively associated with obesity in both girls and boys. With covariates adjusted and using non-early maturing as the reference group, odds ratios for combined overweight were 1.48 for boys and 2.64 for girls, and for obesities were 1.61 for boys and 3.49 for girls, respectively. CONCLUSION: Obesity is positively associated with sexual maturation in both boys and girls, and the association does not differ by gender, but the association is stronger in girls than in boys.


Assuntos
Povo Asiático , Obesidade Infantil/epidemiologia , Puberdade , Saúde Pública , Maturidade Sexual , Adolescente , Fatores Etários , Índice de Massa Corporal , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Inquéritos Nutricionais , Obesidade Infantil/complicações , Obesidade Infantil/fisiopatologia , Prevalência , Puberdade/fisiologia , Fatores de Risco , Instituições Acadêmicas , Fatores Sexuais , Maturidade Sexual/fisiologia
10.
Eur J Gynaecol Oncol ; 35(6): 745-8, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25556287

RESUMO

BACKGROUND: Sister Mary Joseph's nodule (SMJN) is a raised nodule around the umbilicus and is often a clinical sign of metastatic malignancy with poor prognosis. Primary clear cell adenocarcinoma of the peritoneum is rare. Herein the authors describe a case of primary peritoneal clear cell adenocarcinoma presenting with SMJN as an initial sign. CASE: A 59-year-old woman was admitted into the present hospital complaining of an enlarged, painful umbilical nodule, and increasing abdominal distention. After the biopsy of the peritoneal nodule, primary clear cell adenocarcinoma of the peritoneum was diagnosed. The patient underwent multiple courses of aggressive chemotherapy combined with radiotherapy and surgery and has survived for more than four years. CONCLUSION: Considering that SMJN is a rare sign of visceral malignancies, clinicians should be aware of this rare clinical sign when determining the differential diagnosis. Umbilical metastasis is usually indicates a poor prognosis. However, the present case suggests that long-term survival is possible.


Assuntos
Adenocarcinoma de Células Claras/patologia , Neoplasias Peritoneais/patologia , Nódulo da Irmã Maria José/patologia , Feminino , Humanos , Pessoa de Meia-Idade
11.
Clin Exp Obstet Gynecol ; 41(1): 52-7, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24707684

RESUMO

BACKGROUND: As the intrauterine environment can effect children's growth and development, this study aimed to explore the relationship between birth high-risk and physique situation of 9 to 15-year-old children by cross-sectional investigation, and to provide clues for the monitoring, prevention, and treatment of growth deviation in children. MATERIALS AND METHODS: This study recruited 7,194 students aged 9 to 15 years in primary and junior schools. Their parents were asked to complete the birth situation questionnaire. Measurements included height, weight, and body mass index (BMI). Birth high-risk infant was defined according to the gestational age and birth weight. Growth deviation was classified as underweight, short stature, overweight, and obesity. RESULTS: The prevalence of all kinds of growth deviations in preterm, full-term, and post-term birth groups were similar, the same as the physique situation at school age among both sexes. The incidence of small for gestational age (SGA) was 6.23%, when at school age, part of SGA had catch-up growth. However, the prevalence of underweight and short stature for SGA was highest in three groups. The weight and height at school age in SGA group was less than that in appropriate for gestational age (AGA) and large for gestational age (LGA) groups. The prevalence of overweight and obesity for LGA and macrosomia were highest in three groups. At school age, the weight in macrosomia and LGA groups was higher than that in the other groups. CONCLUSIONS: Longitudinal height and weight development and growth of children with birth high-risk are different from normal children. In order to improve healthy situation, more attention should be paid to height and weight development of those children with birth high-risk at school age, even in pre-school age. Prevention may already begin during pregnancy.


Assuntos
Peso ao Nascer , Desenvolvimento Infantil , Idade Gestacional , Gravidez de Alto Risco , Adolescente , Peso ao Nascer/fisiologia , Índice de Massa Corporal , Criança , Desenvolvimento Infantil/fisiologia , China/epidemiologia , Estudos Transversais , Feminino , Seguimentos , Humanos , Recém-Nascido Prematuro/fisiologia , Recém-Nascido Pequeno para a Idade Gestacional/fisiologia , Gravidez
12.
Artigo em Zh | MEDLINE | ID: mdl-38811174

RESUMO

Objective: The purpose of this study was to analyze the clinical characteristics of auditory neuropathy (AN) patients with normal hearing or mild hearing loss. Methods: Data from Multicenter Study on Clinical Diagnosis and Intervention of Acoustic Neuropathy (registration number: ChiCTR2100050125). According to the Chinese clinical practice guideline of auditory neuropathy (version 2022), these patients divided into two groups: the normal hearing group (PTA Normal, PTAN group, the average hearing threshold<20 dB HL) and the mild hearing loss group (PTA Mild hearing loss, PTAM group, the average hearing threshold between 20-35 dBHL). The audiology characteristics, clinical features, and follow-up were analyzed. Data analysis was conducted using GraphPad Prism 8 and SPSS 20.0 software. Results: A total of 75 AN with normal hearing or mild hearing loss were included in this study. The PTAN group consisted of 19 patients (38 ears), including 12 males and 7 females. The average onset age was (16.9±4.5) years old, while the test age was (22.1±5.8) years old for PTAN group. The PTAM group consisted of 56 patients (112 ears), including 29 males and 27 females. The average onset age was (16.2±7.9) years old, while the test age was (23.9±9.0) yeas old for PTAM group. The average hearing threshold of low frequency (0.125-0.5 kHz) was significantly decreased. ABR disappeared in 86.00% (126/150) of the patients. The speech recognition rate was 71.80±22.44% in the PTAN group and 58.08±29.28% in the PTAM group.-SP/AP was 0.98±0.47 in the PTAN and 1.07±0.63 in PTAM group; 40 (53.33%) patients had tinnitus. 29 patients (58 ears) were followed up, including 10 patients (20 ears) in the PTAN group and 19 patients (38 ears) in the PTAM group. There was no significant change in hearing threshold in short-term follow-up (<3 years). With the extension of the disease duration (>3 years), the PTAN group tended to decrease at low frequency, and the PTAM group decreased at high frequency first. The hearing threshold at 0.25 kHz in the PTAN group and 4 kHz in the PTAM group decreased significantly. Conclusions: AN patients with normal hearing or mild hearing loss exhibit abnormal results in audiological examination results, including ABR, electrocochleography and speech discrimination score. A combination of audiological tests should be used to make the diagnosis of AN. With the progression of the disease, AN with normal hearing or mild hearing loss tends to decrease.


Assuntos
Audiometria de Tons Puros , Limiar Auditivo , Perda Auditiva Central , Humanos , Perda Auditiva Central/diagnóstico , Perda Auditiva Central/fisiopatologia , Masculino , Feminino , Adulto , Adulto Jovem , Adolescente , Perda Auditiva/diagnóstico , Perda Auditiva/fisiopatologia , Criança , Pessoa de Meia-Idade
13.
Zhonghua Er Ke Za Zhi ; 62(6): 535-541, 2024 Jun 02.
Artigo em Zh | MEDLINE | ID: mdl-38763875

RESUMO

Objective: To evaluate the diagnostic efficacy and practicality of the Jaundice color card (JCard) as a screening tool for neonatal jaundice. Methods: Following the standards for reporting of diagnostic accuracy studies (STARD) statement, a multicenter prospective study was conducted in 9 hospitals in China from October 2019 to September 2021. A total of 845 newborns who were admitted to the hospital or outpatient department for liver function testing due to their own diseases. The inclusion criteria were a gestational age of ≥35 weeks, a birth weight of ≥2 000 g, and an age of ≤28 days. The neonate's parents used the JCard to measure jaundice at the neonate's cheek. Within 2 hours of the JCard measurement, transcutaneous bilirubin (TcB) was measured with a JH20-1B device and total serum bilirubin (TSB) was detected. The Pearson's correlation analysis, Bland-Altman plots and the receiver operating characteristic (ROC) curve were used for statistic analysis. Results: Out of the 854 newborns, 445 were male and 409 were female; 46 were born at 35-36 weeks of gestational age and 808 were born at ≥37 weeks of gestational age. Additionally, 432 cases were aged 0-3 days, 236 cases were aged 4-7 days, and 186 cases were aged 8-28 days. The TSB level was (227.4±89.6) µmol/L, with a range of 23.7-717.0 µmol/L. The JCard level was (221.4±77.0) µmol/L and the TcB level was (252.5±76.0) µmol/L. Both the JCard and TcB values showed good correlation (r=0.77 and 0.80, respectively) and agreements (96.0% (820/854) and 95.2% (813/854) of samples fell within the 95% limits of agreement, respectively) with TSB. The JCard value of 12 had a sensitivity of 0.93 and specificity of 0.75 for identifying a TSB ≥205.2 µmol/L, and a sensitivity of 1.00 and specificity of 0.35 for identifying a TSB ≥342.0 µmol/L. The TcB value of 205.2 µmol/L had a sensitivity of 0.97 and specificity of 0.60 for identifying TSB levels of 205.2 µmol/L, and a sensitivity of 1.00 and specificity of 0.26 for identifying TSB levels of 342.0 µmol/L. The areas under the ROC curve (AUC) of JCard for identifying TSB levels of 153.9, 205.2, 256.5, and 342.0 µmol/L were 0.96, 0.92, 0.83, and 0.83, respectively. The AUC of TcB were 0.94, 0.91, 0.86, and 0.87, respectively. There were both no significant differences between the AUC of JCard and TcB in identifying TSB levels of 153.9 and 205.2 µmol/L (both P>0.05). However, the AUC of JCard were both lower than those of TcB in identifying TSB levels of 256.5 and 342.0 µmol/L (both P<0.05). Conclusions: JCard can be used to classify different levels of bilirubin, but its diagnostic efficacy decreases with increasing bilirubin levels. When TSB level are ≤205.2 µmol/L, its diagnostic efficacy is equivalent to that of the JH20-1B. To prevent the misdiagnosis of severe jaundice, it is recommended that parents use a low JCard score, such as 12, to identify severe hyperbilirubinemia (TSB ≥342.0 µmol/L).


Assuntos
Bilirrubina , Hiperbilirrubinemia Neonatal , Icterícia Neonatal , Sensibilidade e Especificidade , Humanos , Recém-Nascido , Bilirrubina/sangue , Estudos Prospectivos , Feminino , Masculino , Hiperbilirrubinemia Neonatal/diagnóstico , Hiperbilirrubinemia Neonatal/sangue , Icterícia Neonatal/diagnóstico , Icterícia Neonatal/sangue , Curva ROC , Triagem Neonatal/métodos , Idade Gestacional , Pais
14.
Br J Cancer ; 108(4): 941-50, 2013 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-23462808

RESUMO

BACKGROUND: Upper digestive endoscopy with biopsy and histopathological evaluation of the biopsy material is the standard method for diagnosing gastric cancer (GC). However, this procedure may not be widely available for screening in the developing world, whereas in developed countries endoscopy is frequently used without major clinical gain. There is a high demand for a simple and non-invasive test for selecting the individuals at increased risk that should undergo the endoscopic examination. Here, we studied the feasibility of a nanomaterial-based breath test for identifying GC among patients with gastric complaints. METHODS: Alveolar exhaled breath samples from 130 patients with gastric complaints (37 GC/32 ulcers / 61 less severe conditions) that underwent endoscopy/biopsy were analyzed using nanomaterial-based sensors. Predictive models were built employing discriminant factor analysis (DFA) pattern recognition, and their stability against possible confounding factors (alcohol/tobacco consumption; Helicobacter pylori) was tested. Classification success was determined (i) using leave-one-out cross-validation and (ii) by randomly blinding 25% of the samples as a validation set. Complementary chemical analysis of the breath samples was performed using gas chromatography coupled with mass spectrometry. RESULTS: Three DFA models were developed that achieved excellent discrimination between the subpopulations: (i) GC vs benign gastric conditions, among all the patients (89% sensitivity; 90% specificity); (ii) early stage GC (I and II) vs late stage (III and IV), among GC patients (89% sensitivity; 94% specificity); and (iii) ulcer vs less severe, among benign conditions (84% sensitivity; 87% specificity). The models were insensitive against the tested confounding factors. Chemical analysis found that five volatile organic compounds (2-propenenitrile, 2-butoxy-ethanol, furfural, 6-methyl-5-hepten-2-one and isoprene) were significantly elevated in patients with GC and/or peptic ulcer, as compared with less severe gastric conditions. The concentrations both in the room air and in the breath samples were in the single p.p.b.v range, except in the case of isoprene. CONCLUSION: The preliminary results of this pilot study could open a new and promising avenue to diagnose GC and distinguish it from other gastric diseases. It should be noted that the applied methods are complementary and the potential marker compounds identified by gas-chromatography/mass spectrometry are not necessarily responsible for the differences in the sensor responses. Although this pilot study does not allow drawing far-reaching conclusions, the encouraging preliminary results presented here have initiated a large multicentre clinical trial to confirm the observed patterns for GC and benign gastric conditions.


Assuntos
Testes Respiratórios/métodos , Nanoestruturas , Neoplasias Gástricas/diagnóstico , Biomarcadores/análise , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Técnicas de Diagnóstico Molecular , Projetos Piloto , Úlcera Gástrica/diagnóstico , Compostos Orgânicos Voláteis/análise
15.
Phys Rev Lett ; 111(23): 237403, 2013 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-24476302

RESUMO

This Letter reports all-optically tunable and highly indistinguishable single Raman photons from a driven single quantum dot spin. The frequency, linewidth, and lifetime of the Raman photons are tunable by varying the driving field power and detuning. Under continuous-wave excitation, subnatural linewidth single photons from off-resonant Raman scattering show an indistinguishability of 0.98(3). Under π pulse excitation, spin- and time-tagged Raman fluorescence photons show an almost vanishing multiphoton emission probability of 0.01(2) and a two-photon quantum interference visibility of 0.95(3). Lastly, Hong-Ou-Mandel interference is demonstrated between two single photons emitted from remote, independent quantum dots with an unprecedented visibility of 0.87(4).

16.
Plant Cell Rep ; 32(8): 1309-20, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23615695

RESUMO

KEY MESSAGE: The cytological and physiological features of developing wheat pericarp were clearly characterized in this report. Our results may be helpful to articulate the functions of pericarp during the seed development. Although wheat pericarp has been well studied, knowledge of the sequence of events in the process of pericarp development is incomplete. In the present study, the structural development process of wheat (Triticum aestivum L.) pericarp was investigated in detail using resin microtomy and microscopy. Chlorophyll contents, and photosynthetic and respiratory rates, in pericarp were determined using spectrophotometer and an oxygen electrode, respectively. Mineral nutrient contents were also determined using scanning electron microscopy. The main results are as follows: (1) based on the structures and physiological characteristics observed, the developmental process of pericarp was divided into four stages, growth, formation, extinction and maturation stages, pericarp exhibited specific features at each stage. (2) Pericarp development differed in different parts, or varieties, of wheat. The dorsal pericarp had fewer starch grains and slower rates of apoptosis than the abdominal mesocarp. The cross cells in dorsal pericarp had an irregular outline. When compared with soft wheat cv. Yangmai 11, mesocarp cells in hard wheat cv. Xumai 30 had more starch grains, larger cell size and longer development duration. (3) The chlorophyll content, photosynthesis rate and respiratory rate in pericarp increased gradually, reaching a maximum about 16 days after anthesis, and later decreased continually. The photosynthetic rate in pericarp was lower than the respiration rate. (4) The contents of mineral elements in pericarp, such as calcium, zinc, iron and potassium were higher than those in the inner endosperm. The data indicate that wheat pericarp has many functions, e.g. protection, photosynthesis, mineral accumulation, synthesis and degradation of starch.


Assuntos
Sementes/anatomia & histologia , Sementes/crescimento & desenvolvimento , Triticum/anatomia & histologia , Triticum/fisiologia , Respiração Celular , Clorofila/metabolismo , Microscopia de Fluorescência , Minerais/metabolismo , Fotossíntese , Sementes/citologia , Sementes/ultraestrutura , Triticum/citologia , Triticum/ultraestrutura
18.
Water Sci Technol ; 65(8): 1412-9, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22466587

RESUMO

Mechanisms for low concentrations phosphorus removal in secondary effluent were studied, and a process was developed using limestone filters (LF), submerged macrophyte oxidation ponds (SMOPs) and a subsurface vertical flow wetland (SVFW). Pilot scale experimental models were applied in series to investigate the advanced purification of total phosphorus (TP) in secondary effluent at the Chengjiang sewage treatment plant. With a total hydraulic residence time (HRT) of 82.52 h, the average effluent TP dropped to 0.17 mg L(-1), meeting the standard for Class III surface waters. The major functions of the LF were adsorption and forced precipitation, with a particulate phosphorus (PP) removal of 82.93% and a total dissolved phosphorus (TDP) removal of 41.07%. Oxygen-releasing submerged macrophytes in the SMOPs resulted in maximum dissolved oxygen (DO) and pH values of 11.55 mg L(-1) and 8.10, respectively. This regime provided suitable conditions for chemical precipitation of TDP, which was reduced by a further 39.29%. In the SVFW, TDP was further reduced, and the TP removal in the final effluent reached 85.08%.


Assuntos
Fósforo/isolamento & purificação , Purificação da Água , Biodegradação Ambiental , Biomassa , Calamus/crescimento & desenvolvimento , Hydrocharitaceae/crescimento & desenvolvimento , Concentração de Íons de Hidrogênio , Oxigênio/análise , Projetos Piloto , Esgotos/análise , Áreas Alagadas
19.
Nan Fang Yi Ke Da Xue Xue Bao ; 42(8): 1205-1211, 2022 Aug 20.
Artigo em Zh | MEDLINE | ID: mdl-36073220

RESUMO

OBJECTIVE: To investigate the effect of honokiol (HKL) for reducing doxorubicin (DOX)-induced cardiotoxicity in H9c2 cells and the underlying mechanisms. METHODS: H9c2 cells were divided into control group, DOX group, HKL + DOX group, and HKL+compound C+DOX group. After 24 h of corresponding treatment, the cells were examined for morphological changes and cell viability using CCK-8 assay. The mRNA expressions of the inflammatory factors including tumor necrosis factor-α (TNF-α), interleukin-6 (IL-6) and interleukin-1ß (IL-1ß) were detected by RT-PCR, and the protein levels of cleaved caspase-3, cytochrome c, NOD-like receptor pyrin domain containing 3 (NLRP3), caspase-1, apoptosis-associated speck-like protein containing a CARD (ASC), p-AMPK and nuclear factor (erythroid-derived 2)-like 2 (Nrf2) were detected with Western blotting; the expressions of NLRP3 and p-AMPK also detected with immunofluorescence staining. RESULTS: DOX treatment caused swelling and significantly lowered the viability of H9c2 cells (P < 0.05), resulting also in increased mRNA expressions of TNF-α, IL-6 and IL-1ß (P < 0.05) and protein expressions of cleaved caspase-3, cytochrome c, NLRP3, caspase-1 and ASC (P < 0.05) but reduced protein levels of p-AMPK and Nrf2 (P < 0.05); fluorescence staining showed significantly increased NLRP3 expression and decreased expression of p-AMPK in DOX-treated cells (P < 0.05). All these changes in COX-treated cells were significantly alleviated by HKL treatment (P < 0.05). The application of compound C obviously mitigated the protective effects of HKL against DOX-induced cardiotoxicity in H9c2 cells. CONCLUSIONS: HKL can alleviate DOX-induced cardiotoxicity by inhibiting pyroptosis in H9c2 cells, and this effect is mediated by activation of AMPK to regulate Nrf2 signaling.


Assuntos
Cardiotoxicidade , Piroptose , Proteínas Quinases Ativadas por AMP/metabolismo , Compostos Alílicos , Compostos de Bifenilo , Cardiotoxicidade/metabolismo , Cardiotoxicidade/patologia , Caspase 3/metabolismo , Citocromos c , Doxorrubicina/efeitos adversos , Humanos , Interleucina-6/metabolismo , Miócitos Cardíacos , Fator 2 Relacionado a NF-E2/metabolismo , Proteína 3 que Contém Domínio de Pirina da Família NLR/metabolismo , Fenóis , RNA Mensageiro/metabolismo , Fator de Necrose Tumoral alfa/metabolismo
20.
Nan Fang Yi Ke Da Xue Xue Bao ; 42(1): 71-77, 2022 Jan 20.
Artigo em Zh | MEDLINE | ID: mdl-35249872

RESUMO

OBJECTIVE: To identify the target genes mediating anti-tumor effect of sesquiterpenoids from Cryptoporus volvatus and explore the possible mechanism using molecular docking and molecular dynamics simulation. METHODS: Based on the chemical structure of sesquiterpenes from C. volvatus, we explored the online reverse target finding websites PharmMapper, SEA, Target Hunter and related literature for preliminary prediction of possible anti-tumor targets. Discovery Studio 4.0 (Libdock function) and Maestro 12.3 were used to connect sesquiterpenes with the possible targets, and the potential targets were selected according to the scores. The interaction between the sesquiterpenes and the targets were analyzed using 2D interaction diagram, and the influence of different sesquiterpene skeletons on their activity was inferred based on their activity measurements in experiment. Kinetic simulation was performed for front-end protein sequence (1UNQ) of the Akt (protein kinase B) and for the complex formed by 1UNQ and compound 4 (which had the best cytotoxic activity in vitro) in its optimal conformation, and the root mean square deviation (RMSD) value and root mean square float (RMSF) value of the complex and 1UNQ were measured to evaluate the stability of the binding of compound 4 to the target. RESULTS: The sesquiterpenes showed optimal binding with 1UNQ. Analysis of 2D interaction diagram suggested that the hydrogen bonding and electrostatic force were the most important forces mediating the interaction between the sesquiterpenes and 1UNQ. Analysis of the optimal 3D conformation showed that for different sesquiterpenes, a slight change of the molecular framework produced a steric hindrance effect and caused changes in their bioactivity. Kinetic simulation showed that the complex formed by compound 4 and1UNQ had a lower RMSD than the target pure protein sequence, indicating that compound 4 could stably bind to 1UNQ. The anti-tumor effect of the sesquiterpenoids from C. volvatus was associated with their ability to cause Lys-144 acetylation, which blocks Akt binding to the downstream PIP3 and thus affects the proliferation of tumor cells. CONCLUSION: 1UNQ is the target of sesquiterpenoids from C. volvatus, which affects the proliferation of tumor cells by acetylating Lys-14.


Assuntos
Neoplasias , Polyporaceae , Sesquiterpenos , Humanos , Simulação de Acoplamento Molecular , Sesquiterpenos/química , Sesquiterpenos/farmacologia
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