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1.
Environ Res ; 247: 118255, 2024 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-38266890

RESUMEN

Lewis acids of solid catalysts have been featured for a pivotal role in promoting various reactions. Regarding the oxidation protocol to remove formaldehyde, the inherent drawback of the best-studied MnO2 materials in acidic sites has eventually caused deficiency of active hydroxyls to sustain low-temperature activity. Herein, the cryptomelane-type MnO2 was targeted and it was tuned via incorporation of Zr metal, exhibiting great advances in not only the complete HCHO-to-CO2 degradation but also cycling performance. Zr species were existent in doping state in the MnO2 lattice, rendering lower crystallinity and breaking the regular growth of MnO2 crystallites, which thereby tripled surface area and created larger volume of smaller mesopores. Meantime, the local electronic properties of Mn atoms were also changed by Zr doping, i.e., more low-valence Mn species were formed due to the electron transfer from Zr to Mn. The results of infrared studies demonstrate the higher possession of Lewis acid sites on ZrMn, and this high degree of electrophilic agents favored the production of hydroxyl species. Furthermore, the reactivity of surface hydroxyls, as investigated by CO temperature programmed reduction and temperature programmed desorption of adsorbed O2, was obviously improved as well after Zr modification. It is speculated jointly with the characterizations of the post-reaction catalysts that the accelerated production of active hydroxyls helped rapidly convert formaldehyde into key intermediate-formate, which was then degraded into CO2, avoiding the side reaction path with undesired intermediate-hydrocarbonate-over the pristine MnO2, where active sites were blocked and formaldehyde oxidation was inhibited. Additionally, Zr decoration could stabilize Lewis acidity to be more resistant to heat degeneration, and this merit brought about advantageous thermal recyclability for cycled application.


Asunto(s)
Ácidos de Lewis , Óxidos , Óxidos/química , Compuestos de Manganeso/química , Dióxido de Carbono , Formaldehído/química , Catálisis
2.
Arch Microbiol ; 205(4): 120, 2023 Mar 17.
Artículo en Inglés | MEDLINE | ID: mdl-36928394

RESUMEN

We applied fluorescence staining of Nile red, polymerase chain reaction (PCR), and carbon substrate utilization and pressure tolerance analysis to execute three-stage screening for potential polyhydroxyalkanoate (PHA) producers in the sludge samples of 21 large-scale wastewater treatment plants of city and industrial parks in Taiwan area. Total 35,429 colonies were grown on 196 plates, the screened 30 strains were subjected to 16S rRNA analysis, and 18 identified genera belonged to Proteobacteria (67%), Firmicutes (17%), and Actinomycetota (16%). The PHA accumulation results revealed that nine genera (50% of 18 screened) produced PHAs by limiting the nitrogen source and excess single carbon sources of glucose in an aerobic status. The PHA accumulation percentage was 1.44-58.77% at dry cell weight, and the theoretical yield from glucose was 0.52-58.76%. Our results indicate that our triple-screening method is promising for identifying a high biodiversity of PHA-accumulating bacteria from activated sludge for future industrial applications.


Asunto(s)
Polihidroxialcanoatos , Aguas Residuales , Aguas del Alcantarillado/microbiología , ARN Ribosómico 16S/genética , Bacterias/genética , Carbono , Glucosa , Reactores Biológicos/microbiología
3.
Fa Yi Xue Za Zhi ; 39(6): 586-595, 2023 Dec 25.
Artículo en Inglés, Zh | MEDLINE | ID: mdl-38228478

RESUMEN

The coronavirus disease 2019 (COVID-19) has been a global epidemic for more than three years, causing more than 6.9 million deaths. COVID-19 has the clinical characteristics of strong infectivity and long incubation period, and can cause multi-system damage, mainly lung damage, clinical symptoms of acute respiratory distress syndrome (ARDS) and systemic multiple organ damage. The SARS-CoV-2 virus is still constantly mutating. At present, there is no global consensus on the pathological changes of COVID-19 associated deaths and even no consensus on the criteria for determining the cause of death. The investigation of the basic pathological changes and progression of the disease is helpful to guide the clinical treatment and the development of therapeutic drugs. This paper reviews the autopsy reports and related literature published worldwide from February 2020 to June 2023, with a clear number of autopsy cases and corresponding pathological changes of vital organs as the inclusion criteria. A total of 1 111 autopsy cases from 65 papers in 18 countries are included. Pathological manifestations and causes of death are classified and statistically analyzed, common pathological changes of COVID-19 are summarized, and analytical conclusions are drawn, suggesting that COVID-19 infection can cause life-threatening pathological changes in vital organs. On the basis of different health levels of infected groups, the direct cause of death is mainly severe lung damage and secondary systemic multiple organ failure.


Asunto(s)
COVID-19 , SARS-CoV-2 , Humanos , COVID-19/patología , Causas de Muerte , Pulmón/patología , Autopsia
4.
Zhongguo Dang Dai Er Ke Za Zhi ; 25(7): 759-766, 2023 Jul 15.
Artículo en Zh | MEDLINE | ID: mdl-37529960

RESUMEN

There are more than 7 000 rare diseases and approximately 475 million individuals with rare diseases globally, with children accounting for two-thirds of this population. Due to a relatively small patient population and limited financial resources allocated for drug research and development in pharmaceutical enterprises, there are still no drugs approved for the treatment of several thousands of these rare diseases. At present, there are no drugs for 95% of the patients with rare diseases, and consequently, the therapeutic drugs for rare diseases have been designated as orphan drugs. In order to guide pharmaceutical enterprises to strengthen the research and development of orphan drugs, various nations have enacted the acts for rare disease drugs, promoted and simplified the patent application process for orphan drugs, and provided scientific recommendations and guidance for the research and development of orphan drugs. Since there is a relatively high incidence rate of rare diseases in children, this article reviews the latest research on pharmacotherapy for children with rare diseases.


Asunto(s)
Producción de Medicamentos sin Interés Comercial , Enfermedades Raras , Humanos , Niño , Enfermedades Raras/tratamiento farmacológico , Preparaciones Farmacéuticas
5.
Zhongguo Dang Dai Er Ke Za Zhi ; 25(2): 135-139, 2023 Feb 15.
Artículo en Zh | MEDLINE | ID: mdl-36854688

RESUMEN

OBJECTIVES: To explore the application of whole-genome sequencing (WGS) in the rapid clinical diagnosis of critically ill neonates. METHODS: The critically ill neonates who admitted to the neonatal intensive care unit of Children's Hospital of Fudan University and underwent WGS from August to September, 2019 were enrolled in this prospective study. The genetic testing results and clinical outcome were analyzed with reference to the sequencing data and clinical features of the neonates. RESULTS: A total of 15 neonates were tested, among whom there were 9 boys and 6 girls. The main reason for hospitalization included abnormal breathing in 7 neonates, poor response in 2 neonates, feeding difficulty in 2 neonates, fever in 1 neonate, hypothermia in 1 neonate, preterm birth in 1 neonate, and convulsion in 1 neonate. The mean turn-around time was 4.5 days for WGS. Finally a genetic diagnosis was obtained for 3 neonates, with a positive diagnostic rate of 20% (3/15). Among the 3 neonates, 2 neonates were withdrawn from the treatment due to severe conditions and 1 neonate died on the day when the sample was sent for genetic testing, whose etiology could be explained by the results of genetic testing. CONCLUSIONS: WGS technique can provide a timely and effective diagnosis for critically ill neonates suspected of genetic diseases and provide genetic evidence for clinical treatment of critically ill cases.


Asunto(s)
Enfermedad Crítica , Nacimiento Prematuro , Recién Nacido , Masculino , Niño , Femenino , Humanos , Estudios Prospectivos , Disnea , Fiebre
6.
Arch Microbiol ; 204(6): 312, 2022 May 10.
Artículo en Inglés | MEDLINE | ID: mdl-35538332

RESUMEN

The study devised a detection process combining Nile red-containing media, polymerase chain reaction (PCR), and gas chromatography (GC) to evaluate the possibility of microbes becoming polyhydroxyalkanoate (PHA) producers. The Nile red and PCR detection steps of designating PHA producers had true positive rates of 39.4% and 40%, respectively, and the use of GC analysis as the final step yielded accurate results for the production types and yields of PHAs. When the number of screening samples was up to 102, connecting all three inspection methods in tandem generated economic benefits. When up to 105 samples were screened, the use of all three detection methods reduced the cost to 3% of the cost and the time consumed 6% of using just Nile red plus GC or PCR plus GC. However, when the sum of samples exceeded 108, the cost of combining the three methods exceeds 1 million US dollars and was excessive; here, the combination of Nile red plus PCR could be considered, even though the true positive rate was only 30.7%.


Asunto(s)
Bacterias , Polihidroxialcanoatos , Bacterias/genética , Cromatografía de Gases , Oxazinas , Reacción en Cadena de la Polimerasa/métodos
7.
Fa Yi Xue Za Zhi ; 38(2): 212-216, 2022 Apr 25.
Artículo en Inglés, Zh | MEDLINE | ID: mdl-35899509

RESUMEN

OBJECTIVES: To find a method to distinguish exogenous gamma-hydroxybutyrate (GHB) from endogenous GHB by establishing ultra-high performance liquid chromatography-mass spectrometry (UPLC-MS) based on exosome for quantitative detection of GHB in the rat blood. METHODS: Adult male SD rats were divided into 1 h, 5 h, 10 h administration group and control group. After 1 h, 5 h and 10 h of single precursor of GHB gamma-butyrolactone (GBL) intraperitoneal injection in administration groups, 5 mL blood was collected from the abdominal aorta. Meanwhile, the control group was given a same dose of normal saline, and 5 mL blood was collected at 1 h. Among the 5 mL blood, 0.5 mL was directly detected by HPLC-MS after pretreatment, and exosomes were extracted from the remaining blood by differential centrifugation and detected. RESULTS: The concentration of GHB in the control group was (87.36±33.48) ng/mL, and the concentration with administration at 1 h, 5 h and 10 h was (110 400.00±1 766.35) ng/mL, (1 479.00±687.01) ng/mL and (133.60±12.17) ng/mL, respectively. The results of exosome detection showed that no peak GHB signal was detected in the control group and the 10 h administration group, and the concentrations of GHB at 1 h and 5 h administration groups were (91.47±33.44) ng/mL and (49.43±7.05) ng/mL, respectively. CONCLUSIONS: GHB was detected in blood exosome by UPLC-MS, which indicated that exogenous GHB could be detected in plasma exosomes, while endogenous GHB could not be detected, suggesting that this method may be used as a basis to determine whether there is exogenous drug intake.


Asunto(s)
Exosomas , Oxibato de Sodio , 4-Butirolactona/análisis , 4-Butirolactona/química , Animales , Cromatografía Liquida , Exosomas/química , Hidroxibutiratos/química , Masculino , Ratas , Ratas Sprague-Dawley , Oxibato de Sodio/análisis , Espectrometría de Masas en Tándem/métodos
8.
J Epidemiol ; 31(3): 180-186, 2021 Mar 05.
Artículo en Inglés | MEDLINE | ID: mdl-32224596

RESUMEN

BACKGROUND: The diagnosis of hypertension should be based on the mean of two or more properly measured BP readings on each of two visits for clinical practice, but a one-visit strategy was applied in most epidemiological surveys. The impact of hypertension definition based on two visits on estimates of hypertension burden is unknown. This study aims to assess the impact of hypertension diagnosis based on a two-visit strategy for estimating hypertension burden in China. METHODS: The one-visit and two-visit strategies were applied to investigate the incidence of hypertension in a cohort study based on the China Health and Nutrition Survey (CHNS) 1989-2011. Additionally the prevalence of hypertension was investigated in a cross-sectional study based on the CHNS 2006-2009/2011 and the hypertension burden in China was estimated with data from the 2012-2015 China hypertension survey. RESULTS: Overall, the age-adjusted incidence of hypertension based on the two-visit strategy (1.82%; 95% confidence interval [CI], 1.74-1.90%) was 62.1% lower than estimation based on the one-visit strategy (4.80%; 95% CI, 4.68-4.93%). Similar results were found in the prevalence of hypertension (one-visit: 18.13% [95% CI, 17.34-18.92%]; two-visit: 9.47% [95% CI, 8.87-10.07%]). When the two-visit strategy was applied to the 2012-2015 China hypertension survey, the hypertension burden was predicted to be overestimated by 25.5-47.8% (based on JNC 7) and 23.5-48.2% (based on the 2017 ACC/AHA). CONCLUSION: The hypertension burden would decrease from 244.5 million persons to 127.5-182.3 million persons in China if the two-visit strategy was applied.


Asunto(s)
Determinación de la Presión Sanguínea/estadística & datos numéricos , Hipertensión/diagnóstico , Visita a Consultorio Médico/estadística & datos numéricos , Adolescente , Adulto , Anciano , Presión Sanguínea/fisiología , China/epidemiología , Estudios de Cohortes , Estudios Transversales , Femenino , Encuestas Epidemiológicas , Humanos , Hipertensión/etnología , Incidencia , Masculino , Persona de Mediana Edad , Encuestas Nutricionales , Prevalencia
9.
Forensic Sci Med Pathol ; 17(1): 114-119, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-33170459

RESUMEN

We describe a case of a 32-year-old man who died due to bilateral re-expansion pulmonary edema (RPE) following the insertion a chest tube for unilateral spontaneous pneumothorax. Fifteen minutes after inserting the chest tube, the patient with right spontaneous pneumothorax was diagnosed with right re-expansion edema by chest radiograph. Although multiple treatments were administered, the patient died. However, the findings from autopsy showed bilateral RPE existed in the decedent but not unilateral RPE. Autopsy, microscopic examination, and clinical records concluded that the cause of death was acute cardiac and respiratory failure due to bilateral re-expansion pulmonary edema following unilateral spontaneous pneumothorax. Bilateral RPE due to a unilateral pneumothorax is quite rare in clinical and forensic practice. To the best of our knowledge, this is the first time that the pathological changes of RPE have been described by gross and microscopic examinations. This case is reported to provide histopathologic references for diagnosis of RPE and indicate that combining death investigation, pathological findings and clinical courses plays a vital role in diagnosis of RPE in forensic pathology.


Asunto(s)
Tubos Torácicos/efectos adversos , Neumotórax/terapia , Edema Pulmonar/etiología , Adulto , Resultado Fatal , Insuficiencia Cardíaca/etiología , Humanos , Masculino , Insuficiencia Respiratoria/etiología
10.
Fa Yi Xue Za Zhi ; 37(6): 776-787, 2021 Dec 25.
Artículo en Inglés, Zh | MEDLINE | ID: mdl-35243842

RESUMEN

The mechanism of methamphetamine toxicity and addiction is the key research direction of forensic toxicology, and the development of omics technology provides a new platform for further study of this direction. METH toxic damage and addiction are reflected differently in genes, ribonucleic acid (RNA) transcription, protein and metabolism. This article summarizes the achievements and shortcomings of multi-omics technologies such as genome, transcriptome, metabolome and proteome in the study of METH damage and addiction, and discusses the strategies and advantages of multi-omics combined analysis in the study of METH toxic damage and addiction mechanism, in order to provide more useful reference information for forensic toxicology of METH.


Asunto(s)
Metanfetamina , Proteómica , Metaboloma , Metabolómica , Metanfetamina/toxicidad , Proteoma
11.
Fa Yi Xue Za Zhi ; 37(6): 806-812, 2021 Dec 25.
Artículo en Inglés, Zh | MEDLINE | ID: mdl-35243845

RESUMEN

OBJECTIVES: To study the transcriptomic changes of astrocytes in the brain of rats exposed to methamphetamine (METH) and its possible mechanism in neurotoxicity. METHODS: The rats were intraperitoneally injected with METH (15 mg/kg) every 12 h for 8 times in total to establish the subacute rat model of METH. After the model was successfully established, the striatum was extracted, and astrocytes were separated by the magnetic bead method. Transcriptome sequencing was performed on selected astrocytes, and the differentially expressed genes were analyzed by gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis. RESULTS: A total of 876 differentially expressed genes were obtained by transcriptome sequencing, including 321 up-regulated genes and 555 down-regulated genes. GO analysis revealed that differentially expressed genes were mainly concentrated in cell structure, biological process regulation, extracellular matrix and organelle functions. KEGG pathway enrichment analysis showed that steroids biosynthesis, fatty acid biosynthesis, peroxisome proliferators-activated receptor (PPAR), adenosine 5'-monophosphate-activated protein kinase (AMPK) and other signaling pathways were significantly changed. CONCLUSIONS: METH can cause structural changes of astrocytes through multiple targets, among which cellular structure, steroids biosynthesis and fatty acid biosynthesis may play an important role in nerve injury, providing a new idea for forensic identification of METH related death.


Asunto(s)
Metanfetamina , Transcriptoma , Animales , Astrocitos , Encéfalo , Perfilación de la Expresión Génica , Metanfetamina/farmacología , Ratas , Transducción de Señal
12.
Int J Obes (Lond) ; 44(11): 2267-2278, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-32963328

RESUMEN

BACKGROUND: Overweight and obesity are rising among Chinese reproductive-age women, while some studies have focused on the relationship between sedentary behavior and obesity in certain populations, none has focused on Chinese reproductive-age women specifically. This study examined secular trends in leisure time sedentary behaviors (watching television time, computer time and reading time, and the total sedentary time) among Chinese reproductive-age women and the association of those behaviors with five weight indicators-body mass index (BMI), waist circumference (WC) and overweight, obesity, and abdominal obesity status. METHODS: A prospective cohort study was conducted with Chinese reproductive-age women aged 15-49 who had participated in two or more rounds of the China Health and Nutrition Survey (CHNS), and completed the questionnaire and anthropometric measurements. The exposure variables were the average weekly time spent on three leisure time sedentary behaviors (watching television, using computer, and reading) and the total sedentary time (the sum of the above three sedentary time and video game time). Mixed-effect linear models were produced to explore the secular trends of the mean hours of these sedentary behaviors and the total sedentary time after adjusting covariates. Models were also produced to study the effects of these types of sedentary behavior levels on BMI and WC. Mixed-effect logistic regression models were produced to study the effects of the sedentary behavior levels on overweight, obesity, and abdominal obesity status. RESULTS: The total sedentary time among the reproductive-age women increased over time across most of age, region, educational levels, and income groups from 2004 to 2015. Television hours fluctuated, it increased and then declined over time across most of age, region, and income groups. Computer hours continually increased over time across all age, region, educational level, and income groups. Reading hours gradually decreased over time across most of age, region, educational level, and income groups. Those with a moderate level of television time (14 to <35 h/week) had 1.08 cm larger WCs and were 1.31 times more likely to have abdominal obesity than those with a low level of television time (<14 h/week). Those with a high level of television time (≥35 h/week) had 1.74 cm larger WCs, 0.66 kg/m2 larger BMIs, were 1.50 times more likely to be overweight and were 1.47 times more likely to have abdominal obesity than those with a low level of television time (<14 h/week). Greater computer, reading time, and total sedentary time were not associated with WC, BMI, overweight, obesity, or abdominal obesity. CONCLUSIONS: These findings showed that among Chinese reproductive-age women ages 15-49, secular trends of computer time increased rapidly, reading time decreased gradually and television time fluctuated but showed not much difference from 2004 to 2015. The sharp increase in computer time far outweighed the decline in reading time. As a result, the overall sedentary behavior time of Chinese reproductive-age women gradually increased. These findings provided strong evidence that greater television time was significantly associated with higher BMI, WC, and higher risks of overweight, abdominal obesity among Chinese reproductive-age women. Computer, reading, and the total sedentary time were not associated with those weight indicators.


Asunto(s)
Peso Corporal , Conducta Sedentaria , Adolescente , Adulto , Pueblo Asiatico , Índice de Masa Corporal , China/epidemiología , Femenino , Humanos , Actividades Recreativas , Persona de Mediana Edad , Encuestas Nutricionales , Obesidad/epidemiología , Obesidad Abdominal/epidemiología , Sobrepeso/epidemiología , Estudios Prospectivos , Tiempo de Pantalla , Circunferencia de la Cintura , Adulto Joven
13.
Br J Nutr ; 124(7): 715-728, 2020 10 14.
Artículo en Inglés | MEDLINE | ID: mdl-32378502

RESUMEN

The effects of macronutrient intake on obesity are controversial. This research aims to investigate the associations between macronutrient intake and new-onset overweight/obesity. The relationship between the consumption of carbohydrate and total fat and obesity was assessed by the multivariable Cox model in this 11-year cohort, which included 6612 adults (3291 men and 3321 women) who were free of overweight and obesity at baseline. The dietary intake was recorded using a 24-h recall method for three consecutive days. Moreover, substitution models were developed to distinguish the effects of macronutrient composition alteration from energy intake modification. During 7·5 person years (interquartile range 4·3, 10·8) of follow-up, 1807 participants became overweight or obese. After adjusting for risk factors, the hazard ratio (HR) of overweight/obesity in extreme quintiles of fat was 1·48 (quintile 5 v. quintile 1, 95 % CI 1·16, 1·89; Ptrend = 0·02) in women. Additionally, replacing 5 % of energy from carbohydrate with equivalent energy from fat was associated with an estimated 4·3 % (HR 1·043, 95 % CI 1·007, 1·081) increase in overweight/obesity in women. Moreover, dietary carbohydrate was inversely associated with overweight/obesity (quintile 5 v. quintile 1, HR 0·70, 95 % CI 0·55, 0·89; Ptrend = 0·02) in women. Total fat was related to a higher risk of overweight/obesity, whereas high carbohydrate intake was related to a lower risk of overweight/obesity in women, which was not observed in men.


Asunto(s)
Dieta/efectos adversos , Carbohidratos de la Dieta/análisis , Grasas de la Dieta/análisis , Obesidad/etiología , Sobrepeso/etiología , Adulto , China/epidemiología , Encuestas sobre Dietas , Carbohidratos de la Dieta/efectos adversos , Grasas de la Dieta/efectos adversos , Ingestión de Alimentos , Femenino , Humanos , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Nutrientes/análisis , Obesidad/epidemiología , Sobrepeso/epidemiología , Modelos de Riesgos Proporcionales , Factores de Riesgo , Factores Sexuales
14.
J Epidemiol ; 30(3): 128-135, 2020 Mar 05.
Artículo en Inglés | MEDLINE | ID: mdl-30880306

RESUMEN

BACKGROUND: The prevalence of overweight is increasing dramatically worldwide. The aim of our study was to investigate the association of plain water intake (PWI) with the risk of new-onset overweight risk among Chinese adults. METHODS: A total of 3,200 adults aged 18-65 who were free of overweight at baseline were enrolled from China Health and Nutrition Survey (CHNS) cohort study in 2006-2011. The risk of new-onset overweight with different amounts of PWI per day was analyzed in this 5-year cohort. A multiple logistic regression model was used to assess the association of PWI and the risk of new-onset overweight and adjust for potential confounders. Moreover, dose-response models were developed to estimate the linear relationship. RESULTS: During 5 years of follow-up, 1,018 incident cases were identified. Our analysis indicated an inverse association of more than 4 cups of PWI per day and the risk of new-onset overweight among normal weight individuals. Compared with participants who drank 2 to 3 cups PWI, the adjusted odds ratios (OR) of overweight were 0.741 (95% confidence interval [CI], 0.599-0.916) in participants who drank 4 to 5 cups PWI, and 0.547 (95% CI, 0.435-0.687) in participants who drank more than 6 cups PWI. The dose-response analysis showed that every cup of PWI was associated with a 6.5% and 8.4% decrease in the risk of new-onset overweight among men and women, respectively. The interactions of PWI and covariates on the risk of overweight were not found. CONCLUSION: Drinking more than 4 cups (≈1 liter) per day of plain water is associated with decrease in the risk of new-onset overweight among normal-weight individuals.


Asunto(s)
Ingestión de Líquidos , Sobrepeso/epidemiología , Adolescente , Adulto , Anciano , China/epidemiología , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Encuestas Nutricionales , Medición de Riesgo , Adulto Joven
15.
Zhongguo Dang Dai Er Ke Za Zhi ; 22(5): 482-487, 2020 May.
Artículo en Zh | MEDLINE | ID: mdl-32434645

RESUMEN

This article reports the clinical and genetic features of two cases of cerebral creatine deficiency syndrome I (CCDSI) caused by SLC6A8 gene mutations. Both children were boys. Boy 1 (aged 2 years and 10 months) and Boy 2 (aged 8 years and 11 months) had the clinical manifestations of delayed mental and motor development, and convulsion. Their older brothers had the same symptoms. The mother of the boy 1 had mild intellectual disability. The genetic analysis showed two novel homozygous mutations, c.200G>A(p.Gly67Asp) and c.626_627delCT(p.Pro209Argfs*87), in the SLC6A8 gene on the X chromosome, both of which came from their mothers. These two novel mutations were rated as possible pathogenic mutations and were not reported in the literature before. This study expands the mutation spectrum of the SLC6A8 gene and has great significance in the diagnosis of boys with delayed development, and epilepsy.


Asunto(s)
Mutación , Proteínas del Tejido Nervioso/genética , Proteínas de Transporte de Neurotransmisores en la Membrana Plasmática/genética , Niño , Preescolar , Creatina , Epilepsia , Pruebas Genéticas , Humanos , Masculino , Síndrome
16.
Int J Legal Med ; 133(4): 975-982, 2019 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-29882060

RESUMEN

Inferring an unknown DNA's ancestry using a set of ancestry-informative single nucleotide polymorphisms (SNPs) in forensic science is useful to provide investigative leads. This is especially true when there is no DNA database match or specified suspect. Thus, a set of SNPs with highly robust and balanced differential power is strongly demanded in forensic science. In addition, it is also necessary to build a genotyping database for estimating the ancestry of an individual or an unknown DNA. For the differentiation of Africans, Europeans, East Asians, Native Americans, and Oceanians, the Global Nano set that includes just 31 SNPs was developed by de la Puente et al. Its ability for differentiation and balance was evaluated using the genotype data of the 1000 Genomes Phase III project and the Stanford University HGDP-CEPH. Just 402 samples were genotyped and analyzed as a reference set based on statistical methods. To validate the differentiating capacity using more samples, we developed a single-tube 28-plex SNP assay in which the SNPs were chosen from the 31 allelic loci of the Global AIMs Nano set. Three tri-allelic SNPs used to differentiate mixed-source DNA contribute little to population differentiation and were excluded here. Then, 998 individuals from 21 populations were typed, and these genotypes were combined with the genotype data obtained from 1000 Genomes Phase III and the Stanford University HGDP-CEPH (3090 total samples,43 populations) to estimate the power of this multiplex assay and build a database for the further inference of an individual or an unknown DNA sample in forensic practice.


Asunto(s)
Genética Forense/métodos , Genética de Población/métodos , Grupos Raciales/genética , Frecuencia de los Genes , Variación Genética , Genotipo , Humanos , Reacción en Cadena de la Polimerasa Multiplex/métodos
17.
Biomed Environ Sci ; 31(10): 729-739, 2018 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-30423274

RESUMEN

OBJECTIVE: To identify the characteristics of Chinese obesogenic environments at a provincial level, infer a spatial distribution map of obesity prevalence in 31 provinces, and provide a foundation for development of policy to reduce obesity in children and adolescents. METHODS: After scanning obesity data on subjects aged 7-17 years from 12 provinces in the China Health and Nutrition Survey 2011 and environmental data on 31 provinces from the China Statistical Yearbook 2011 and other sources, we selected 12 predictors. We used the 12 surveyed provinces as a training sample to fit an analytical model with partial least squares regression and prioritized the 12 predictors using variable importance in projection. We also fitted a predictive model with Bayesian analysis. RESULTS: We identified characteristics of obesogenic environments. We fitted the predictive model with a deviance information criterion of 61.96 and with statistically significant (P < 0.05) parameter estimates of intercept [95% confidence interval (CI): 329.10, 963.11], log(oil) (CI: 13.11, 20.30), log(GDP) (CI: 3.05, 6.93), log(media) (CI: -234.95, -89.61), and log(washing-machine) (CI: 0.92, 5.07). The total inferred average obesity prevalence among those aged 7-17 was 9.69% in 31 Chinese provinces in 2011. We also found obvious clustering in occurrences of obesity in northern and eastern provinces in the predicted map. CONCLUSION: Given complexity of obesity in children and adolescents, concerted efforts are needed to reduce consumption of edible oils, increase consumption of vegetables, and strengthen nutrition, health, and physical activity education in Chinese schools. The northern and eastern regions are the key areas requiring intervention.


Asunto(s)
Estado Nutricional , Obesidad/epidemiología , Adolescente , Niño , China/epidemiología , Femenino , Humanos , Masculino , Encuestas Nutricionales/estadística & datos numéricos , Prevalencia
18.
Zhongguo Dang Dai Er Ke Za Zhi ; 20(10): 819-824, 2018 Oct.
Artículo en Zh | MEDLINE | ID: mdl-30369356

RESUMEN

OBJECTIVE: To investigate the value of multiparameter flow cytometry (MFC) and flow cytometric scoring system (FCSS) in the diagnosis and prognostic evaluation of childhood myelodysplastic syndrome (MDS). METHODS: A retrospective analysis was performed for the clinical data of 42 children who were diagnosed with MDS. MFC was performed to investigate the phenotype and proportion of each lineage of bone marrow cells. The correlations of FCSS score with MDS type, International Prognostic Scoring System (IPSS) score, and revised IPSS (IPSS-R) score were analyzed. RESULTS: Of all the 42 children, 20 (48%) had an increase in abnormal marrow blasts, 19 (45%) had a lymphoid/myeloid ratio of >1, 14 (33%) had abnormal cross-lineage expression of lymphoid antigens in myeloid cells, 8 (19%) had abnormal CD13/CD16 differentiation antigens, 5 (12%) had abnormal expression of CD56, 3 (7%) had reduced or increased side scatter of granulocytes, 3 (7%) had reduced expression of CD36 in nucleated red blood cells, 2 (5%) had reduced expression of CD71 in nucleated red blood cells, 1 (2%) had absent expression of CD33 in myeloid cells, 1 (2%) had reduced or absent expression of CD11b in granulocytes, and 1 (2%) had absent expression of CD56 and CD14 in monocytes. There were significant differences in the median overall survival time and event-free survival time among the low-, medium-, and high-risk FCSS groups (P<0.05). Among the low-, medium-, and high-risk FCSS groups, the low-risk FCSS group had the highest 2-year overall survival rate, while there was no significant difference between the medium- and high-risk FCSS groups (P>0.05). The three groups had a 2-year event-free survival rate of 95%, 60%, and 46% respectively (P<0.05). FCSS score was positively correlated with MDS type, IPSS score, and IPSS-R score (P<0.05). CONCLUSIONS: MFC and FCSS help with the diagnosis and prognostic evaluation of childhood MDS.


Asunto(s)
Síndromes Mielodisplásicos , Médula Ósea , Niño , Citometría de Flujo , Humanos , Pronóstico , Estudios Retrospectivos
19.
J Epidemiol ; 27(6): 282-286, 2017 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-28427831

RESUMEN

BACKGROUND: The prevalence of abdominal obesity is increasing dramatically worldwide. This study aimed to estimate the current prevalence of abdominal obesity from the 2011 China Health and Nutrition Survey (CHNS) and compare the data with other countries. METHODS: Waist circumference (WC) of 12,326 Chinese adults (aged 20 years or older) from the 2011 CHNS were analyzed by age group and region. Abdominal obesity was defined as a WC ≥90 cm for men and WC ≥80 cm for women based on World Health Organization (WHO) recommendations for Asians. RESULTS: In 2011, the age-adjusted mean WC was 85.9 cm (95% confidence interval [CI], 85.6-86.2 cm) for men and 80.7 cm (95% CI, 80.4-80.9 cm) for women. Based on the WHO recommendations, the age-adjusted prevalence of abdominal obesity was 44.0% (95% CI, 43.1%-44.8%) overall, 35.3% (95% CI, 34.1%-36.6%) in men, and 51.7% (95% CI, 50.5%-52.9%) in women. Moreover, the age-adjusted prevalence was 44.0% (95% CI, 42.7%-45.2%) in rural populations, 42.5% (95% CI, 40.7%-44.2%) in urban populations, and 45.2% (95% CI, 43.5%-46.9%) in megacity populations. The prevalence in China (35.3% for men and 51.7% for women) was lower than in Japan (50.8% for men) and the United States (43.5% for men and 64.7% for women). Similar results were observed when applying the criteria suggested by the Working Group on Obesity in China. CONCLUSIONS: In 2011, the age-adjusted prevalence of abdominal obesity in China was 35.3% in men and 51.7% in women.


Asunto(s)
Obesidad Abdominal/epidemiología , Adulto , China/epidemiología , Femenino , Salud Global/estadística & datos numéricos , Encuestas Epidemiológicas , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Adulto Joven
20.
Forensic Sci Med Pathol ; 13(4): 409-416, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28776218

RESUMEN

Deaths involved with environmental hazards and intoxication might present with minimal or nonspecific morphological features, which are insufficient to establish a diagnosis. The present study investigated the postmortem brain mRNA and immunohistochemical expressions of tumor necrosis factor-α (TNF-α), interleukin-1ß (IL-1ß), inducible nitric oxide synthase (iNOS) and nuclear factor erythroid-2-related factor-2 (Nrf2) in forensic cases. Relative mRNA quantification using Taqman real-time PCR assay demonstrated higher expression of IL-1ß, TNF-α and iNOS, and lower expression of Nrf2 in methamphetamine intoxication and hyperthermia cases, higher expression of iNOS in phenobarbital intoxication cases, and higher expression of Nrf2 in phenobarbital intoxication and hypothermia cases. Immunostaining results showed substantial inter-individual variations in each group, showing no evident differences in distribution or intensity. These findings suggest that different inflammatory and antioxidant responses were involved in deaths from different etiologies, and these markers may be useful for evaluating brain damage and responses.


Asunto(s)
Encéfalo/metabolismo , Interleucina-1beta/metabolismo , Factor 2 Relacionado con NF-E2/metabolismo , Óxido Nítrico Sintasa de Tipo II/metabolismo , Factor de Necrosis Tumoral alfa/metabolismo , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Asfixia/metabolismo , Biomarcadores/metabolismo , Encéfalo/patología , Causas de Muerte , Femenino , Fiebre/metabolismo , Patologia Forense , Humanos , Hipotermia/metabolismo , Inmunohistoquímica , Interleucina-1beta/genética , Masculino , Persona de Mediana Edad , Factor 2 Relacionado con NF-E2/genética , Óxido Nítrico Sintasa de Tipo II/genética , Intoxicación/metabolismo , ARN Mensajero/metabolismo , Reacción en Cadena en Tiempo Real de la Polimerasa , Factor de Necrosis Tumoral alfa/genética , Heridas y Lesiones/metabolismo , Adulto Joven
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