Familial multinodular goiter syndrome with papillary thyroid carcinomas: mutational analysis of the associated genes in 5 cases from 1 Chinese family

Background: Familial papillary thyroid cancer (fPTC) is recognized as a distinct entity only recently and no fPTC predisposing genes have been identified. Several potential regions and susceptibility loci for sporadic PTC have been reported. We aimed to evaluate the role of the reported susceptibility loci and potential risk genomic region in a Chinese familial multinodular goiter (fMNG) with PTC family. Methods: We sequenced the related risk genomic regions and analyzed the known PTC susceptibility loci in the Chinese family members who consented to join the study. These loci included (1) the point mutations of the BRAF and RET; (2) the possible susceptibility loci to sporadic PTC; and (3) the suggested potential fMNG syndrome with PTC risk region. Results: The members showed no mutations in the common susceptible BRAF and RET genomic region, although contained several different heterozygous alleles in the RET introns. All the members were homozygous for PTC risk alleles of rs966423 (C) at chromosome 2q35, rs2910164 (C) at chromosome 5q24 and rs2439302 (G) at chromosome 8p12; while carried no risk allele of rs4733616 (T) at chromosome 8q24, rs965513 (A) or rs1867277 (A) at chromosome 9q22 which were associated with radiation-related PTC. The frequency of the risk allele of rs944289 (T) but not that of rs116909374 (T) at chromosome 14q13 was increased in the MNG or PTC family members. Conclusions: Our work provided additional evidence to the genetic predisposition to a Chinese familial form of MNG with PTC. The family members carried quite a few risk alleles found in sporadic PTC; particularly, homozygous rs944289 (T) at chromosome 14q13 which was previously shown to be linked to a form of fMNG with PTC. Moreover, the genetic determinants of radiation-related PTC were not presented in this family

A combined method to quantify the retinal metabolic rate of oxygen using photoacoustic ophthalmoscopy and optical coherence tomography

Quantitatively determining physiological parameters at a microscopic level in the retina furthers the understanding of the molecular pathways of blinding diseases, such as diabetic retinopathy and glaucoma. An essential parameter, which has yet to be quantified noninvasively, is the retinal oxygen metabolic rate (rMRO(2)). Quantifying rMRO(2) is challenging because two parameters, the blood flow rate and hemoglobin oxygen saturation (sO(2)), must be measured together. We combined photoacoustic ophthalmoscopy (PAOM) with spectral domain-optical coherence tomography (SD-OCT) to tackle this challenge, in which PAOM measured the sO(2) and SD-OCT mapped the blood flow rate. We tested the integrated system on normal wild-type rats, in which the measured rMRO(2) was 297.86 +/- 70.23 nl/minute. This quantitative method may shed new light on both fundamental research and clinical care in ophthalmology in the future

Association of Genetic Variants of Melatonin Receptor 1B with Gestational Plasma Glucose Level and Risk of Glucose Intolerance in Pregnant Chinese Women

BACKGROUND: This study aimed to explore the association of MTNR1B genetic variants with gestational plasma glucose homeostasis in pregnant Chinese women. METHODS: A total of 1,985 pregnant Han Chinese women were recruited and evaluated for gestational glucose tolerance status with a two-step approach. The four MTNR1B variants rs10830963, rs1387153, rs1447352, and rs2166706 which had been reported to associate with glucose levels in general non-pregnant populations, were genotyped in these women. Using an additive model adjusted for age and body mass index (BMI), association of these variants with gestational fasting and postprandial plasma glucose (FPG and PPG) levels were analyzed by multiple linear regression; relative risk of developing gestational glucose intolerance was calculated by logistic regression. Hardy-Weinberg Equilibrium was tested by Chi-square and linkage disequilibrium (LD) between these variants was estimated by measures of D' and r(2). RESULTS: In the pregnant Chinese women, the MTNR1B variant rs10830963, rs1387153, rs2166706 and rs1447352 were shown to be associated with the increased 1 hour PPG level (p=8.04 × 10(-10), 5.49 × 10(-6), 1.89 × 10(-5) and 0.02, respectively). The alleles were also shown to be associated with gestational glucose intolerance with odds ratios (OR) of 1.64 (p=8.03 × 10(-11)), 1.43 (p=1.94 × 10(-6)), 1.38 (p=1.63 × 10(-5)) and 1.24 (p=0.007), respectively. MTNR1B rs1387153, rs2166706 were shown to be associated with gestational FPG levels (p=0.04). Our data also suggested that, the LD pattern of these variants in the studied women conformed to that in the general populations: rs1387153 and rs2166706 were in high LD, they linked moderately with rs10830963, but might not linked with rs1447352;rs10830963 might not link with rs1447352, either. In addition, the MTNR1B variants were not found to be associated with any other traits tested. CONCLUSIONS: The MTNR1B is likely to be involved in the regulation of glucose homeostasis during pregnancy

Potential applications of wastes from energy generation particularly biochar in Malaysia.

In Malaysia, abundant agricultural wastes are generated yearly. Therefore it is beneficial to discover new ways to utilize the wastes and employ the carbon source in different industries. Biochar are produced through many heat treatments such as combustion, gasification and pyrolysis for energy generation. The characteristics of these stable carbons such as the physical properties, chemical composition, surface area and surface chemistry determine the effectiveness of the cabon in different applications. Biochar has the ability to retain carbon and this condition is advantageous to prevent the release of carbon back to the atmosphere in the form of carbon dioxide. Application of biochar to soil helps to improve soil fertility and raise agricultural productivity. Biochar also has the ability to reduce carbon dioxide in the flue gas system. There have only been a few studies that discuss on the potential applications of this agriculture waste. The biochar's potential application as carbon sequester for soil application, energy production and dye sorption is being explored in this paper

Ambient fine particulate matter and daily mortality: a comparative analysis of observed and estimated exposure in 347 cities

BACKGROUND: Model-estimated air pollution exposure products have been widely used in epidemiological studies to assess the health risks of particulate matter with diameters of ≤2.5 µm (PM2.5). However, few studies have assessed the disparities in health effects between model-estimated and station-observed PM2.5 exposures. METHODS: We collected daily all-cause, respiratory and cardiovascular mortality data in 347 cities across 15 countries and regions worldwide based on the Multi-City Multi-Country collaborative research network. The station-observed PM2.5 data were obtained from official monitoring stations. The model-estimated global PM2.5 product was developed using a machine-learning approach. The associations between daily exposure to PM2.5 and mortality were evaluated using a two-stage analytical approach. RESULTS: We included 15.8 million all-cause, 1.5 million respiratory and 4.5 million cardiovascular deaths from 2000 to 2018. Short-term exposure to PM2.5 was associated with a relative risk increase (RRI) of mortality from both station-observed and model-estimated exposures. Every 10-μg/m3 increase in the 2-day moving average PM2.5 was associated with overall RRIs of 0.67% (95% CI: 0.49 to 0.85), 0.68% (95% CI: -0.03 to 1.39) and 0.45% (95% CI: 0.08 to 0.82) for all-cause, respiratory, and cardiovascular mortality based on station-observed PM2.5 and RRIs of 0.87% (95% CI: 0.68 to 1.06), 0.81% (95% CI: 0.08 to 1.55) and 0.71% (95% CI: 0.32 to 1.09) based on model-estimated exposure, respectively. CONCLUSIONS: Mortality risks associated with daily PM2.5 exposure were consistent for both station-observed and model-estimated exposures, suggesting the reliability and potential applicability of the global PM2.5 product in epidemiological studies

Health literacy and fatigue, anxiety, depression, and somatic symptoms in patients with differentiated thyroid carcinoma from West China: A cross‐sectional study

Abstract Background and Aims Differentiated thyroid carcinoma (DTC) patients are associated with excellent prognosis but impaired health‐related quality of life (HRQOL) by initial and subsequent therapy. Health literacy plays a pivotal role in public health and medical settings, but data on its relationship with DTC patients' HRQOL are insufficient and equivocal. This study was designed to explore the relationship between health literacy and HRQOL in patients with DTC from West China areas. Methods A cross‐sectional study with a descriptive correlational design was conducted. 126 patients with DTC were recruited between 2020 and 2021. Levels of health literacy and HRQOL (including fatigue level, anxiety/depression status, and somatoform symptoms) were assessed by questionnaires. Pearson product–moment correlation and Stepwise multiple regression were used to examined the adjusted association of health literacy with HRQOL. Results Health literacy and receiving DTC‐related education together explained 16.2% of the variance in fatigue level. Patients who had higher health literacy, received more DTC‐related education were currently employed and less fatigue. Health literacy, fatigue level and DTC‐related education together explained 31.0% of the variance in anxiety and depression of DTC patients. Patients who had higher health literacy, received more DTC‐related education and less fatigue level were less anxious and depressive. Age explained 8.3% of the variance in DTC patients' somatoform symptoms. Older patients complained more somatoform symptoms. Conclusion Health literacy was positively associated with HRQOL in DTC patients regarding to fatigue level and anxiety/depression status across the entire sample. Interventions to improve HRQOL should take the patients' health literacy into account