Publications by authors named "Huijun Wang"

555 Publications

Consumption of aquatic products and meats in Chinese residents: A nationwide survey.

Front Nutr 2022 22;9:927417. Epub 2022 Jul 22.

Shanghai Key Laboratory of Molecular Imaging, Jiading Central Hospital, Shanghai University of Medicine and Health Sciences, Shanghai, China.

Objective: To provide the most recent national estimates for the consumption of aquatic products and meats among Chinese residents.

Methods: This study was conducted in 14 provinces of China, using a multi-stage stratified random cluster sampling method and a population-proportional sampling procedure. Aquatic products and meats consumption was measured by a 3-day, 24-h dietary recall. Chinese residents aged 3 years and above ( = 24,106) completed a face-to-face dietary interview.

Results: The average daily consumption of meat and aquatic products for the all-aged population was 70.9 g and 48.0 g, respectively, which aligned with Dietary Guidelines (40-75 g/d) for Chinese Residents (2016). On the one hand, intake of aquatic products among Chinese people was relatively insufficient, especially for adolescents and elder people (<40 g/d). On the other hand, males, mainly aged 19-60, generally consumed too much meat (>80 g/d), and 19-44 grouping consumed more than 70 g/d of red meat. Besides, urban residents and individuals with higher socioeconomic status (SES) have exhibited comprehensively healthy dietary preferences than rural ones and those with a lower SES do. Women and the higher SES group tend to be closer to the dietary guidelines for the Chinese.

Conclusions: The consumption of meat and aquatic products varied with age, gender, region and SES. Detecting patterns in consumption is particularly relevant for policy makers, researchers and health professionals in the formulation of dietary recommendations and estimating potential health outcomes.
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http://dx.doi.org/10.3389/fnut.2022.927417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9354134PMC
July 2022

A rare complication and proper management in cholangioenteric Roux-en-Y anastomosis.

Endoscopy 2022 Aug 4. Epub 2022 Aug 4.

Department of General Surgery, Hohhot First Hospital, Hohhot, China.

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http://dx.doi.org/10.1055/a-1886-3464DOI Listing
August 2022

Influence of postural changes on nasal resistance in patients with obstructive sleep apnea.

Sleep Breath 2022 Aug 3. Epub 2022 Aug 3.

Department of Otolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, No. 1 Dongjiaominxiang Street, Dongcheng District, Beijing, 100730, People's Republic of China.

Objective: Increased nasal resistance (NR) can augment upper airway collapse in patients with obstructive sleep apnea (OSA). Posture change can lead to altered nasal resistance. Our study aimed to investigate the influence of posture changes on NR in patients with OSA.

Methods: Healthy controls without subjective nasal obstruction (apnea-hypopnea index (AHI) < 5 events/h), patients with OSA and subjective nasal obstruction, and patients with OSA and no subjective nasal obstruction were recruited. NR was measured by active anterior rhinomanometry in sitting, supine, left-lateral, and right-lateral postural positions. Total NR and postural change-related NR increments were calculated and compared among groups.

Results: In total, 26 healthy controls and 72 patients with OSA (mean AHI 39.7 ± 24.8 events/h) were recruited. Of patients with OSA, 38/72 (53%) had subjective nasal obstruction. Compared with controls, patients with OSA and no subjective nasal obstruction had lower total NR (inspiration, p = 0.037; expiration, p = 0.020) in the supine postural position. There was no difference in sitting, left-lateral, and right-lateral total NR among groups. Total NR was higher in lateral compared to sitting posture in both patients with OSA and in controls. The NR increment for sitting to supine postural change was significantly lower in patients with OSA (inspiration, p = 0.003; expiration, p = 0.005) compared with controls. The change in NR showed no statistically significant difference among groups in supine-left or supine-right postural change.

Conclusion: Patients with OSA had lower supine total NR and lower total NR increment in the sitting to supine postural change, which may be related to a different posture-related NR regulatory mechanism. This study provides a new exploratory direction for the compensatory mechanism of the upper airway to collapse during sleep.
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http://dx.doi.org/10.1007/s11325-022-02685-0DOI Listing
August 2022

New insight into methamphetamine-associated heart failure revealed by transcriptomic analyses: Circadian rhythm disorder.

Toxicol Appl Pharmacol 2022 Jul 19;451:116172. Epub 2022 Jul 19.

School of Forensic Medicine, Southern Medical University, Guangzhou 510515, China; Guangzhou Key Laboratory of Forensic Multi-Omics for Precision Identification, School of Forensic Medicine, Southern Medical University, Guangzhou 510515, China; The Seventh Affiliated Hospital, Southern Medical University, Foshan 528200, China.. Electronic address:

Methamphetamine (METH) abuse is a significant public health concern globally. Cardiac toxicity is one of the important characteristics of METH, in addition to its effects on the nervous system. However, to date, research on the cardiotoxic injury induced by METH consumption has been insufficient. To systematically analyze the potential molecular mechanism of cardiac toxicity in METH-associated heart failure (HF), a rat model was constructed with a dose of 10 mg/kg of METH consumption. Cardiac function was evaluated by echocardiography, and HE staining was used to clarify the myocardial histopathological changes. Integrated analyses, including mRNA, miRNA and lncRNA, was performed to analyze the RNA expression profile and the potential molecular mechanisms involved in METH-associated HF. The results showed that METH caused decreased myocardial contractility, with a decreased percent ejection fraction (%EF). Kyoto Encyclopedia of Genes and Genomes (KEGG) and Gene Ontology (GO) analyses of the RNAs with expression changes revealed abnormal circadian rhythm regulation in the METH groups, with circadian rhythm-related genes and their downstream effectors expressed differentially, especially the aryl hydrocarbon receptor nuclear translocator-like (Arntl). Competing endogenous RNA (ceRNA) networks associated with circadian rhythm, including Arntl, was also observed. Therefore, this study revealed that long-term METH consumption was associated with the HF in a rat model by decreasing the %EF, and that the abnormal circadian rhythm could provide new directions for investigating the METH-associated HF, and that the differentially expressed genes in this model could provide candidate genes for the identification and assessment of cardiac toxicity in METH-associated HF, which is fundamental for further understanding of the disease.
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http://dx.doi.org/10.1016/j.taap.2022.116172DOI Listing
July 2022

Aetiology and outcomes of prolonged neonatal jaundice in tertiary centres: data from the China Neonatal Genome Project.

Arch Dis Child Fetal Neonatal Ed 2022 Jul 18. Epub 2022 Jul 18.

The Centre for Pediatric Liver Diseases, Children's Hospital of Fudan University,National Children's Medical Center, Shanghai, China.

Objective: To investigate the distribution of aetiologies and outcomes in neonates with prolonged neonatal jaundice.

Design: An observational study.

Setting: Multiple tertiary centres from the China Neonatal Genome Project.

Patients: Term infants with jaundice lasting more than 14 days or preterm infants with jaundice lasting more than 21 days were recruited between 1 June 2016 and 30 June 2020.

Main Outcome Measures: Aetiology and outcomes were recorded from neonates with prolonged unconjugated hyperbilirubinaemia (PUCHB) and prolonged conjugated hyperbilirubinaemia (PCHB).

Results: A total of 939 neonates were enrolled, and known aetiologies were identified in 84.1% of neonates (790 of 939). Among 411 neonates with PCHB, genetic disorders (27.2%, 112 of 411) were the leading aetiologies. There were 8 deceased neonates, 19 neonates with liver failure and 12 with neurodevelopmental delay. Among 528 neonates with PUCHB, a genetic aetiology was identified in 2 of 219 neonates (0.9%) who showed disappearance of jaundice within 4 weeks of age and in 32 of 309 neonates (10.4%) with persistent jaundice after 4 weeks of age. A total of 96 of 181 neonates (53.0%) who received genetic diagnoses had their clinical diagnosis modified as a result of the genetic diagnoses.

Conclusion: Known aetiologies were identified in approximately 80% of neonates in our cohort, and their overall outcomes were favourable. Genetic aetiology should be considered a priority in neonates with PCHB or the persistence of jaundice after 4 weeks of age. Moreover, genetic data can modify the clinical diagnosis and guide disease management, potentially improving outcomes.
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http://dx.doi.org/10.1136/archdischild-2021-323413DOI Listing
July 2022

A Comparison between Dietary Consumption Status and Healthy Dietary Pattern among Adults Aged 55 and Older in China.

Nutrients 2022 Jul 5;14(13). Epub 2022 Jul 5.

Key Laboratory of Trace Elements Nutrition, National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, National Health Commission, Beijing 100050, China.

The nutrition and health of middle-aged and elderly people is crucial to the long-term development of a country. The present study aimed to analyze the dietary consumption status in Chinese adults by using baseline and follow-up data from the community-based Cohort Study on Nervous System Diseases between 2018-2020 and selecting those aged 55 and older ( = 23,296). Dividing 65 food items into 17 subgroups on the basis of a valid semi-quantitative food frequency questionnaire, we analyze the consumption amount and consumption rate of foods in relation to wave and sociodemographic factors by employing the Wilcoxon rank sum test, Kruskal-Wallis analysis, the Chi-squared test, and the Cochran-Armitage trend test and evaluate food intake status using the Chinese Dietary Guidelines Recommendations (2022). Compared to 2018, the median daily intake of livestock meat, poultry, and eggs increased in 2020 ( < 0.05), while the median daily intake of wheat, other cereals, tubers, legumes, fruits, and fish and seafood decreased ( < 0.05). The proportion of subjects with excessive intake of grain, livestock and poultry, and eggs was 46.3%, 36.6%, and 26.6%, respectively, while the proportion of subjects with insufficient intake of whole grains and mixed beans, tubers, legumes, dairy products, fruits, vegetables, and fish and seafood were 98.4%, 80.3%, 74.0%, 94.6%, 94.3%, 75.8%, and 86.5%, respectively, and more than 50% of subjects were non-consumers of dairy products, nuts, and whole grains and mixed beans. In conclusion, the problem of unhealthy dietary structure is prominent among adults aged 55 and older in China; insufficient or excessive intakes of various types of foods are common; and excessive consumption of edible oil and salt remains a serious problem.
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http://dx.doi.org/10.3390/nu14132778DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9268783PMC
July 2022

Nutritional Quality of Pre-Packaged Foods in China under Various Nutrient Profile Models.

Nutrients 2022 Jun 29;14(13). Epub 2022 Jun 29.

The George Institute for Global Health, Faculty of Medicine, University of New South Wales, Sydney, NSW 2052, Australia.

This study used various nutrient profile models (NPMs) to evaluate the nutritional quality of pre-packaged foods in China to inform future food policy development. Nutrition data for pre-packaged foods were collected through FoodSwitch China in 2017-2020. The analyses included 73,885 pre-packaged foods, including 8236 beverages and 65,649 foods. Processed foods (PFs) and ultra-processed foods (UPFs) accounted for 8222 (11.4%) and 47,003 (63.6%) of all products, respectively. Among the 55,425 PFs and UPFs, the overall proportion of products with an excessive quantity of at least one negative nutrient was 86.0% according to the Chilean NPM (2019), 83.3% for the Pan American Health Organization NPM (PAHO NPM), and 90.6% for the Western Pacific Region NPM for protecting children from food marketing (WPHO NPM), respectively. In all NPMs, 70.4% of PFs and UPFs were identified as containing an excessive quantity of at least one negative nutrient, with higher proportions of UPFs compared to PFs. Food groups exceeding nutrient thresholds in most NPMs included snack foods, meat and meat products, bread and bakery products, non-alcoholic beverages, confectionery, and convenience foods. In conclusion, PFs and UPFs accounted for three-fourths of pre-packaged foods in China, and the majority of PFs and UPFs exceeded the threshold for at least one negative nutrient under all three NPMs. Given the need to prevent obesity and other diet-related chronic diseases, efforts are warranted to improve the healthiness of foods in China through evidence-based food policy.
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http://dx.doi.org/10.3390/nu14132700DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9268697PMC
June 2022

High Diet Quality Is Linked to Low Risk of Abdominal Obesity among the Elderly Women in China.

Nutrients 2022 Jun 24;14(13). Epub 2022 Jun 24.

National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, 29 Nanwei Road, Beijing 100050, China.

How diet as a whole impacts the risk of general overweight and abdominal obesity among the Chinese elderly is unclear. The present study aimed to examine the association of overall diet quality with general overweight and abdominal obesity in the Chinese elderly. Using data from the China Health and Nutrition Survey (CHNS) from 1993 to 2015, an ongoing cohort study, we selected participants aged 60 and older who were not generally overweight, but who had abdominal obesity at baseline and who had participated in at least two waves of the survey as subjects. The China Elderly Dietary Guidelines Index (CDGI-E) was used, based on the critical diet-related recommendations of the 2016 Chinese Dietary Guideline (CDG-2016), to assess overall diet quality. Consecutive 3 d, 24 h recalls and household weighing for seasonings and edible oils were used to collect dietary data and calculate the CDGI-E scores. Three-level (community-individual-wave) random intercept logistic regression models were used to analyze the impact of diet quality on the risk of general overweight and abdominal obesity in the elderly. The results showed that the older women in the top sixtiles of the CDGI-E scores had a 38% reduction -0.62, 95% CI (0.41, 0.92)-in the risk of abdominal obesity, as compared to those in the bottom sixtiles after adjusting for all potential confounders, while the null association was observed in the older men. The relationship between CDGI-E score and the risk of overweight/general obesity in the Chinese elderly has not been found. It was concluded that a high diet quality was associated with a reduced risk of abdominal obesity among elderly women in China. Our findings will help to improve the understanding of the relationship between the overall effect of diet and health. It may provide a new avenue for obesity intervention policy formulation from the aspect of improving overall dietary quality.
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http://dx.doi.org/10.3390/nu14132623DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9268347PMC
June 2022

The impact of the methyl esters of homogalacturonan on cellular uptake dependent hypoglycemic activity in IR-HepG2 cells.

Carbohydr Polym 2022 Oct 18;293:119741. Epub 2022 Jun 18.

The MOE Key Laboratory for Standardization of Chinese Medicines and the SATCM Key Laboratory for New Resources and Quality Evaluation of Chinese Medicines, Institute of Chinese Materia Medica, Shanghai University of Traditional Chinese Medicine, 1200 Cailun Road, Shanghai 201203, PR China. Electronic address:

A homogalacturonan (HG) FPLP obtained from Ficus pumila L. was reported to have anti-diabetic activity but how this is influenced by degree of methyl-esterification (DM) of HG is unknown. To comprehensively analyze the role of DM in hypoglycemic activity in insulin-resistant HepG2 cells, HG derivatives (0 < DM < 100) were prepared from FPLP (DM25) by alkali or methanol acidified with acetyl chloride. Interestingly, a quadratic curve relationship revealed that hypoglycemic effect increased and then decreased with DM, and which was the most pronounced with DM54. DM might regulate activity by altering the intracellular drug concentration through cellular uptake. Furthermore, HG-DMn (0 < n < 100) were dependent on macropinocytosis, while HG-DMn (30 < n < 100) were also dependent on caveolae-mediated endocytosis. For HG, higher lipophilicity, smaller particle size, and more endocytosis mechanisms involved were favorable for cellular uptake, thereby increasing the intracellular drug concentration and enhancing the hypoglycemic activity. This work provides ideas for future investigations on structure-activity relationships.
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http://dx.doi.org/10.1016/j.carbpol.2022.119741DOI Listing
October 2022

Incompletely penetrant TRPM4-associated progressive symmetric erythrokeratodermia responses to methotrexate.

J Dermatol 2022 Jul 7. Epub 2022 Jul 7.

Dermatology Hospital, Southern Medical University, Guangzhou, China.

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http://dx.doi.org/10.1111/1346-8138.16503DOI Listing
July 2022

Label-free biological sample detection and non-contact separation system based on microfluidic chip.

Rev Sci Instrum 2022 Jun;93(6):063104

School of Mechanical Engineering, Xian Jiaotong University, Xian, Shannxi 710049, China.

The detection and separation of biological samples are of great significance for achieving accurate diagnoses and state assessments. Currently, the detection and separation of cells mostly adopt labeling methods, which will undoubtedly affect the original physiological state and functions of cells. Therefore, in this study, a label-free cell detection method based on microfluidic chips is proposed. By measuring the scattering of cells to identify cells and then using optical tweezers to separate the target cells, the whole process without any labeling and physical contact could realize automatic cell identification and separation. Different concentrations of 15 µm polystyrene microspheres and yeast mixed solution are used as samples for detection and separation. The detection accuracy is over 90%, and the separation accuracy is over 73%.
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http://dx.doi.org/10.1063/5.0086109DOI Listing
June 2022

Quality Markers of by "Oligosaccharide-Spectrum-Effect" Relationships.

Front Nutr 2022 6;9:914380. Epub 2022 Jun 6.

The MOE Key Laboratory for Standardization of Chinese Medicines and the SATCM Key Laboratory for New Resources and Quality Evaluation of Chinese Medicines, Institute of Chinese Materia Medica, Shanghai University of Traditional Chinese Medicine, Shanghai, China.

Kimura et Migo has been used as a traditional Chinese medicine (TCM) and a functional food for thousands of years. Carbohydrate is one of the most important effective substances and indicative components in . However, since the qualitative and quantitative analysis of polysaccharides in remains a challenge and limitation, herein, an oligosaccharide-quality marker approach was newly developed for quality assessment of by spectrum-effect relationships between high performance liquid chromatographic (HPLC) fingerprints and anti-inflammatory effects. The HPLC fingerprints of 48 batches of oligosaccharides from (DOOS) were developed and analyzed with similarity analysis (SA) and hierarchical cluster analysis (HCA), and eight common peaks were identified. screening experiment indicated that DOOS potentially inhibited nitric oxide (NO) production and effectively reduced the release of inflammatory cytokines, such as TNF-α, IL-6, and IL-1β in RAW 264.7 cells, thereby reducing the inflammatory response of cells. Finally, the HPLC fingerprint of different batches of DOOS was combined with anti-inflammatory activity to assess the spectrum-effect relationships of DOOS by gray correlation analysis (GCA), in addition, the purified oligosaccharide components were identified and validated for NO inhibitory activity. Our results showed four DOOS (maltotetraose, maltopentaose, maltohexaose, and mannohexaose) were relevant to anti-inflammatory effects and could be as quality markers for the quality control of . It suggests that the "oligosaccharide-spectrum-effect" relationships approach is a simple and reliable method for the quality control of herb medicines or nutritious foods.
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http://dx.doi.org/10.3389/fnut.2022.914380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9221367PMC
June 2022

Differential Association of Wheat and Rice Consumption With Overweight/Obesity in Chinese Adults: China Health and Nutrition Survey 1991-2015.

Front Nutr 2022 6;9:808301. Epub 2022 Jun 6.

Key Laboratory of Trace Element Nutrition of National Health Commission, Department of Public Nutrition, National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, Beijing, China.

Wheat and rice are the main staple foods in China and likely have a major influence on health. This analysis examined the potential association between wheat and rice consumption and the risk of overweight/obesity in Chinese adults. We used data collected in the China Health and Nutrition Survey (CHNS) from 1991 to 2015. Adults aged 18-80 years old ( = 11,503) were included in the present analysis, for whom questionnaires and anthropometric data were collected during at least two waves. We constructed three-level mixed-effect linear regression models to estimate body mass index (BMI) in relation to wheat and rice intakes and performed three-level mixed-effect logistic regression models to assess the risk of overweight/obesity. Women showed significant BMI increases of 0.14 (95% CI: 0.04, 0.24) from a higher intake of wheat but not from a higher intake of rice when adjusted for all potential confounders. Comparing the highest quartiles of intake of wheat with non-consumers in men and women, odds ratios (ORs; 95% CI) of overweight/obesity were 1.45 (1.15, 1.85) and 1.26 (1.00, 1.60), respectively. In men, there was an inverse association with the risk of overweight/obesity in the comparison of the highest quartiles of intake of rice (OR: 0.73; 95% CI: 0.55, 0.96) and non-consumers when adjusted for all potential confounders. Higher intake of wheat was positively associated with the risk of overweight/obesity among Chinese adults. Further, there was an inverse association between rice intake with overweight/obesity in Chinese men but not in women.
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http://dx.doi.org/10.3389/fnut.2022.808301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9207194PMC
June 2022

Loss of Novel Diversity in Human Gut Microbiota Associated with Ongoing Urbanization in China.

mSystems 2022 Jun 21:e0020022. Epub 2022 Jun 21.

National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, Beijing, China.

Recent rapid and large-scale urbanization has had a profound impact on human lifestyles and is associated with an increased risk of many diseases. Recent studies have revealed large differences in the human gut microbiota across populations in countries at different stages of urbanization. However, few studies have analyzed the impact of ongoing urbanization within the same geographic region. In this study, we sampled 214 participants in communities of different urbanization levels within two provinces of China and reconstructed draft prokaryotic genomes with metagenome sequences. The genomes were clustered into 447 species-level operational taxonomic units (OTUs), among which 196 did not have genomes in public reference databases according to the GTDB-Tk pipeline. The novel OTUs comprised 19.1% abundance in rural participants and 16.0% in urban participants, increasing the proportion of classified reads from 47.6% to 65.3% across all samples. Among the unknown OTUs, 26 OTUs present in rural samples were absent in urban participants, while 70 unknown OTUs were more abundant in rural than urban participants, suggesting potential loss and growth suppression of novel human symbionts during urbanization. Moreover, there were a higher number of genes, especially transporters, identified in genomes assembled from urban samples. This change in gene functionality indicates that urbanization not only altered the community structure of the human gut microbiota but also impacted its functional capacity. Taken together, these data show a dramatic change in the microbiota with urbanization and suggest the importance of cataloging microbial diversity from rural populations while these communities still exist. Previous studies have reported the differences in human gut microbiota across populations of different urbanization levels, but most of the studies focused on populations across different geographic regions. In this study, we analyzed the impact of ongoing urbanization in neighborhoods within the same geographic region. By assembling shotgun metagenome sequences, we reconstructed prokaryotic genomes from human gut microbiota and found that the novel bacterial OTUs were less abundant and less prevalent in urban participants than in rural participants, indicating potential loss and suppression of novel human symbionts during urbanization. Genes, including transporters and antibiotic resistance genes, were enriched in genomes of urban origins, suggesting change in functional potential of the microbiota. These findings suggest the significant influence of urbanization on human gut microbiota and the necessity of exploring the microbial diversity of rural populations.
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http://dx.doi.org/10.1128/msystems.00200-22DOI Listing
June 2022

Hyaline fibromatosis syndrome with a novel 4.41-kb deletion in ANTXR2 gene: A case report and literature review.

Mol Genet Genomic Med 2022 Aug 20;10(8):e1993. Epub 2022 Jun 20.

Clinical Genetic Center, Children's Hospital of Fudan University, Shanghai, China.

Background: Hyaline fibromatosis syndrome is a rare autosomal recessive disorder with ANTXR2 mutations characterised by the accumulation of hyaline substances in tissues. We present a case with the severe form-infantile systemic hyalinosis (ISH)-with long survival and review the literature.

Methods And Results: Trio-exome sequencing revealed compound heterozygous mutations, including a novel 4.41 kb deletion on 4q21.21 and the previously reported c.1294C > T mutation, in the ANTXR2 gene. He was diagnosed with ISH and treated symptomatically. After follow-ups until 4 years of age, his recurrent respiratory infections and diarrhoea improved after one severe diarrhoea attack treated with intravenous gamma globulin. He is now awaiting surgical excision of gingival hypertrophy and joint contractures.

Conclusion: The novel gross deletion in ANTXR2 enriches the genetic mutation spectrum of hyaline fibromatosis syndrome. The manifestation of decreased foetal movement, acute-infection attack or intravenous gamma globulin treatment may be associated with hyaline fibromatosis syndrome. A review of 116 reported cases reveals that missense mutations in the vWA domain are associated with joint symptoms, respiratory tract infection and diarrhoea, while frameshift mutations are associated with facial deformities and speech delays. We have enriched the current knowledge of the clinical manifestations and genetic mutation spectrum of HFS.
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http://dx.doi.org/10.1002/mgg3.1993DOI Listing
August 2022

[Intakes of energy and macronutrient from Chinses 15 provinces (autonomous regions, municipalities) adults aged 18 to 35 in 1989-2018].

Wei Sheng Yan Jiu 2022 May;51(3):361-380

National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, Beijing 100050, China.

Objective: To analyze the dietary energy and macronutrient intake status and changing trends of adults aged 18 to 35 in 15 provinces(autonomous regions, municipalities) in China from 1989 to 2018.

Methods: Based on the data from 11 rounds of follow-up survey conducted by "China Health and Nutrition Survey" between 1989 and 2018, a multi-stage stratified cluster sampling method was used to analyze the dietary data of 25 400 adults aged 18 to 35. The dietary survey was conducted by using 24-hour dietary recall in three consecutive days and household weighing accounting. The food consumption was converted into energy and nutrient intake by using the food nutrient data in the food composition list.

Results: The dietary energy intake of adults aged 18 to 35 in China showed an overall downward trend. The intake of dietary fat showed an upward trend, while the intake of protein and carbohydrate showed a downward trend. From the perspective of the macronutrients energize, the contribution of carbohydrates had gradually decreased while the contribution of protein and fat increased. Meanwhile, among the surveyed population, the proportion of dietary protein intake below estimated average requirement, the proportion of fat energize contribution higher than 30%, and the proportion of carbohydrate energize contribution less than 50% were gradually increasing.

Conclusion: The dietary macronutrient structure of Chinese adults aged 18 to 35 is becoming more and more reasonable, but there is still a gap with the recommended intake.
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http://dx.doi.org/10.19813/j.cnki.weishengyanjiu.2022.03.003DOI Listing
May 2022

Molecular Genetic Analysis of Newborns with Congenital Microcephaly.

Neonatology 2022 16;119(4):455-463. Epub 2022 Jun 16.

Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, Shanghai, China.

Introduction: Data on the genetic landscape of congenital microcephaly (CM) in China are scarce, and the incidence of CM caused by the most commonly mutated gene ASPM in China remains unknown.

Methods: Sixty-one neonates with CM who were hospitalized in the Children's Hospital of Fudan University between August 1, 2016, and August 31, 2020, were enrolled, and the clinical data and clinical exome-sequencing data were analyzed. An additional 18,103 parental data entries from the Chinese Children's Genetic Testing Clinical Collaboration System database were collected to estimate the incidence of ASPM-related congenital microcephaly (ASPM-CM) in East China by analyzing the carrier frequency of ASPM mutations.

Results: Among the 61 neonates with CM, 35 (57.4%) patients were identified with genetic findings, including 24 patients with single nucleotide variants (SNVs) and 11 patients with copy number variations (CNVs). ASPM was the most common gene with detrimental SNVs detected in 3 patients. Patients with genetic findings showed a significantly higher incidence of developmental delay (91.3%, 21/23) than those without genetic findings (60%, 9/15) (p = 0.04). All the 3 decreased patients had genetic findings. The estimated ASPM-CM incidence in East China was 1/1,295,044.

Conclusion: Comprehensive genetic testing, detecting both SNVs and CNVs, is recommended for newborns with CM. Patients with genetic findings should be aware of the potential for developmental delay. ASPM gene defect was the most common genetic cause of CM in this study. The estimation of the incidence of ASPM-CM in East China might provide a reference for analyzing overall incidence.
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http://dx.doi.org/10.1159/000525073DOI Listing
June 2022

Gut microbiota signatures of long-term and short-term plant-based dietary pattern and cardiometabolic health: a prospective cohort study.

BMC Med 2022 06 15;20(1):204. Epub 2022 Jun 15.

Chinese Center for Disease Control and Prevention, National Institute for Nutrition and Health, Beijing, China.

Background: The interplay among the plant-based dietary pattern, gut microbiota, and cardiometabolic health is still unclear, and evidence from large prospective cohorts is rare. We aimed to examine the association of long-term and short-term plant-based dietary patterns with gut microbiota and to assess the prospective association of the identified microbial features with cardiometabolic biomarkers.

Methods: Using a population-based prospective cohort study: the China Health and Nutrition Survey, we included 3096 participants from 15 provinces/megacities across China. We created an overall plant-based diet index (PDI), a healthful plant-based diet index (hPDI), and an unhealthful plant-based diet index (uPDI). The average PDIs were calculated using repeat food frequency questionnaires collected in 2011 and 2015 to represent a long-term dietary pattern. Short-term dietary pattern was estimated using 3-day 24-h dietary recalls collected in 2015. Fecal samples were collected in 2015 and measured using 16S rRNA sequencing. We investigated the association of long-term and short-term plant-based dietary patterns with gut microbial diversity, taxonomies, and functional pathways using linear mixed models. Furthermore, we assessed the prospective associations between the identified gut microbiome signatures and cardiometabolic biomarkers (measured in 2018) using linear regression.

Results: We found a significant association of short-term hPDI with microbial alpha-diversity. Both long-term and short-term plant-based diet indices were correlated with microbial overall structure, whereas long-term estimates explained more variance. Long-term and short-term PDIs were differently associated with microbial taxonomic composition, yet only microbes related to long-term estimates showed association with future cardiometabolic biomarkers. Higher long-term PDI was associated with the lower relative abundance of Peptostreptococcus, while this microbe was positively correlated with the high-sensitivity C-reactive protein and inversely associated with high-density lipoprotein cholesterol.

Conclusions: We found shared and distinct gut microbial signatures of long-term and short-term plant-based dietary patterns. The identified microbial genera may provide insights into the protective role of long-term plant-based dietary pattern for cardiometabolic health, and replication in large independent cohorts is needed.
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http://dx.doi.org/10.1186/s12916-022-02402-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9199182PMC
June 2022

Sugammadex Versus Neostigmine for Neuromuscular Block Reversal and Postoperative Pulmonary Complications in Patients Undergoing Resection of Lung Cancer.

J Cardiothorac Vasc Anesth 2022 Sep 5;36(9):3626-3633. Epub 2022 Apr 5.

Department of Anesthesiology, Taizhou Hospital of Zhejiang Province affiliated to Wenzhou Medical University, Linhai, Zhejiang, China. Electronic address:

Objectives: This study aimed to compare the effect of sugammadex and neostigmine on neuromuscular block reversal and the incidence of postoperative pulmonary complications in patients undergoing lung cancer resection.

Design: A double-blind, randomized, prospective study.

Setting: A single major urban teaching and university hospital.

Participants: One hundred adult patients underwent elective radical resection of lung cancer under general anesthesia.

Interventions: Patients were assigned into neostigmine (0.05 mg/kg) + atropine 0.02 mg/kg group and sugammadex (2 mg/kg) group.

Measurements And Main Results: The primary outcomes were the incidence of any postoperative pulmonary complications, and the time to achieve 90% of train-of-four (TOF) after the administration of sugammadex or neostigmine. The secondary endpoints were the number of patients with TOF ratio (TOFr) <0.9 at the time of tracheal extubation, the incidence of readmission 30 days after discharge, and specific postoperative pulmonary complications. Results showed that the average time of recovery to TOFr ≥0.9 with sugammadex was 164.5 ± 27.7 seconds versus 562.9 ± 59.7 seconds with neostigmine + atropine treatment. Fewer sugammadex-treated patients did not achieve TOFr of 0.9 at the time of tracheal extubation than did neostigmine-treated participants. Patients in the sugammadex group had lower incidence of postoperative lung complications, and shorter durations of postanesthesia care unit stay and postoperative hospital stay than those in the neostigmine group. There was no significant difference in the incidence of readmission between the 2 groups.

Conclusions: Administration of sugammadex provided faster recovery of rocuronium-induced neuromuscular block when compared with neostigmine. Moreover, for patients undergoing lung cancer resection, administration of sugammadex could reduce the incidence of postoperative pulmonary complications and duration of postoperative hospital stay.
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http://dx.doi.org/10.1053/j.jvca.2022.03.033DOI Listing
September 2022

Longitudinal Association of Dietary Energy Density with Abdominal Obesity among Chinese Adults from CHNS 1993-2018.

Nutrients 2022 May 21;14(10). Epub 2022 May 21.

National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, Beijing 100050, China.

Few studies have explored the longitudinal association between dietary energy density and waist circumference and abdominal obesity in adults in China. This study aimed to analyze the relationship between dietary energy density and waist circumference and abdominal obesity in Chinese residents aged 18-64. Using data from the CHNS from 1993 to 2018, 25,817 adult residents aged 18 to 64 were selected for the study. Three consecutive 24-h dietary recalls and home-weighed seasonings were used to assess food intake. A multilevel model was used to analyze the relationship between dietary energy density and waist circumference and abdominal obesity. The results showed that compared with the lowest dietary energy density group, females had an increased risk of abdominal obesity (OR = 1.16, 95% CI: 1.05, 1.29), and females' waist circumference increased significantly by 0.24 cm (95% CI: 0.39-1.09) in the highest dietary energy density group. No association between dietary energy density and waist circumference and abdominal obesity was observed in males. This study shows that higher dietary energy density is significantly associated with females' waist circumference and abdominal obesity. Further research on high dietary energy density and abdominal obesity will provide scientific basis for the effective control of abdominal obesity.
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http://dx.doi.org/10.3390/nu14102151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9143873PMC
May 2022

Differential Associations of Intakes of Whole Grains and Coarse Grains with Risks of Cardiometabolic Factors among Adults in China.

Nutrients 2022 May 18;14(10). Epub 2022 May 18.

National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, 29 Nanwei Road, Beijing 100050, China.

There is a lack of studies on the association between whole grain intake and cardiometabolic risk factors in China and the current definition of whole grains is inconsistent. This study defined whole grains in two ways, Western versus traditional, and examined their associations with the risks of major cardiometabolic factors (CMFs) among 4706 Chinese adults aged ≥18 years, who participated in surveys both in 2011 and in 2015. Diet data were collected by consecutive 3 d 24 h recalls, together with household seasoning weighing. Whole grains were defined as grains with a ratio of fiber to carbohydrate of ≥0.1, while coarse grains were defined as grains except for rice and its products, and wheat and its products. Multivariable logistic regressions were modeled to analyze the associations of intakes of whole grains and coarse grains, respectively, with risks of major CMFs including obesity-, blood pressure-, blood glucose- and lipid-related factors, which were defined by International Diabetes Federation and AHA/NHLBI criteria. After adjusting for potential confounders, the odds of elevated LDL-C decreased with the increasing intake levels of whole grains (OR 0.64, 95% CI 0.46-0.88, -trend < 0.05). Moreover, adults with the whole grain intake of 50.00 to 150.00 g/day had 27% lower odds of overweight and obesity (OR 0.73, 95% CI 0.54-0.99) and 31% lower odds of elevated LDL-C (OR 0.69, 95% CI 0.49-0.96), as compared with non-consumers. In conclusion, given the significant nutrient profiles of whole grains and coarse grains, the adults with higher intakes of whole grains only may have a lower risk of LDL-C and overweight and obesity.
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http://dx.doi.org/10.3390/nu14102109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9145902PMC
May 2022

Secular Trends in Time-of-Day of Energy Intake in a Chinese Cohort.

Nutrients 2022 May 11;14(10). Epub 2022 May 11.

National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, Beijing 100050, China.

Few studies have described the status and change of time-of-day of energy intake on a population level. This study aims to investigate the secular trend in time-of-day of energy intake using a Chinese cohort, and to examine demographic disparities in trends. A total of 20,976 adults with at least two waves of dietary data in the China Health and Nutrition Survey (CHNS 1991-2018) were included. A multilevel linear mixed model was applied to the energy proportions of breakfast, lunch and dinner. A multilevel Tobit regression model was applied to the energy proportion of morning snack, afternoon snack and evening snack. Time-demographic interaction terms were tested to examine demographic disparities in the trends. From 1991 to 2018, the marginal mean of the energy proportion of breakfast experienced first a falling and then a rising trend, and the marginal mean of energy proportions of lunch and dinner both presented first a rising and then a falling trend. The marginal means of all snacks took on a rising trend. Significant time-demographic interactions were observed for energy proportion of each eating occasion. On average, female, older and rural people tended to have a higher energy proportion at breakfast and lower energy proportion at lunch and dinner. Female, younger and urban people tended to have higher snack energy proportions. The time-of-day of energy intake has first shifted towards later in the day and then towards a balanced meal pattern in this Chinese cohort. Demographic disparities were observed in both the secular trend and the mean level of energy proportions of eating occasions. The health implications of such meal patterns warrant further investigation.
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http://dx.doi.org/10.3390/nu14102019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9146504PMC
May 2022

Relationship between Dietary Magnesium Intake and Metabolic Syndrome.

Nutrients 2022 May 11;14(10). Epub 2022 May 11.

National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, Beijing 100050, China.

Metabolic syndrome (MetS) is increasingly prevalent, and the relationship between dietary magnesium and MetS remains controversial. Therefore, we aimed to explore the association and dose-response relationship between dietary magnesium intake and MetS and its single component. The sample was adults aged 18 years and above who participated in at least two follow-up surveys in 2009, 2015 and 2018. Food consumption data were collected from three consecutive 24-h dietary recalls. The multivariate Cox proportional risk regression model and restricted cubic spline (RCS) model were used to analyze the association and dose-response relationship between dietary magnesium intake and MetS and its components. In our study, 6104 subjects were included, with a total follow-up of 37,173.36 person-years, and the incidence was 33.16%. Cox regression analysis showed that the multivariable-adjusted Hazard Ratio (HR) for MetS comparing the highest to the lowest quintile of dietary magnesium intake was 0.84 (95% confidence intervals [CI] = 0.71-0.99). Central obesity, elevated TG, elevated blood pressure and elevated blood glucose were reduced by 18%, 41%, 20% and 42%, respectively. The risk of decreased HDL-C was reduced by 23% in the third quintile of dietary magnesium intake, with a slightly increased risk in the highest group. RCS analysis showed that the overall and non-linear associations between dietary magnesium and MetS and its components were statistically significant, the risk of them decreased significantly when magnesium intake was lower than 280 mg/day, and then the curve leveled off or slightly increased.
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http://dx.doi.org/10.3390/nu14102013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9144620PMC
May 2022

B, O and N Codoped Biomass-Derived Hierarchical Porous Carbon for High-Performance Electrochemical Energy Storage.

Nanomaterials (Basel) 2022 May 18;12(10). Epub 2022 May 18.

College of Engineering, Northeast Agricultural University, Harbin 150030, China.

High specific surface area, reasonable pore structure and heteroatom doping are beneficial to enhance charge storage, which all depend on the selection of precursors, activators and reasonable preparation methods. Here, B, O and N codoped biomass-derived hierarchical porous carbon was synthesized by using KCl/ZnCl as a combined activator and porogen and HBO as both boron source and porogen. Moreover, the cheap, environmentally friendly and heteroatom-rich laver was used as a precursor, and impregnation and freeze-drying methods were used to make the biological cells of laver have sufficient contact with the activator so that the layer was deeply activated. The as-prepared carbon materials exhibit high surface area (1514.3 m g), three-dimensional (3D) interconnected hierarchical porous structure and abundant heteroatom doping. The synergistic effects of these properties promote the obtained carbon materials with excellent specific capacitance (382.5 F g at 1 A g). The symmetric supercapacitor exhibits a maximum energy density of 29.2 W h kg at a power density of 250 W kg in 1 M NaSO, and the maximum energy density can reach to 51.3 W h kg at a power density of 250 W kg in 1 M BMIMBF/AN. Moreover, the as-prepared carbon materials as anode for lithium-ion batteries possess high reversible capacity of 1497 mA h g at 1 A g and outstanding cycling stability (no decay after 2000 cycles).
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http://dx.doi.org/10.3390/nano12101720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9143239PMC
May 2022

Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project.

J Med Genet 2022 May 20. Epub 2022 May 20.

Division of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.

Background: Congenital heart defects (CHDs) are the most common type of birth defects. The genetic aetiology of CHD is complex and incompletely understood. The overall distribution of genetic causes in patients with CHD from neonatal intensive care units (NICUs) needs to be studied.

Methods: CHD cases were extracted from the China Neonatal Genomes Project (2016-2021). Next-generation sequencing results and medical records were retrospectively evaluated to note the frequency of genetic diagnosis and the respective patient outcomes.

Results: In total, 1795 patients were included. The human phenotype ontology term of atrial septal defect, patent ductus arteriosus and ventricular septal defect account for a large portion of the CHD subtype. Co-occurring extracardiac anomalies were observed in 35.1% of patients. 269 of the cases received genetic diagnoses that could explain the phenotype of CHDs, including 172 copy number variations and 97 pathogenic variants. The detection rate of trio-whole-exome sequencing was higher than clinical exome sequencing (21.8% vs 14.5%, p<0.05). Further follow-up analysis showed the genetic diagnostic rate was higher in the deceased group than in the surviving group (29.0% vs 11.9%, p<0.05).

Conclusion: This is the largest cohort study to explore the genetic spectrum of patients with CHD in the NICU in China. Our findings may benefit future work on improving genetic screening and counselling for NICU patients with CHD.
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http://dx.doi.org/10.1136/jmedgenet-2021-108354DOI Listing
May 2022

Thymic hypoplasia induced by copy number variations contributed to explaining sudden infant death based on forensic autopsies.

Forensic Sci Int 2022 Jul 2;336:111323. Epub 2022 May 2.

School of Forensic Medicine, Southern Medical University, Guangzhou 510515, China; Guangzhou Key Laboratory of Forensic Multi-Omics for Precision Identification, School of Forensic Medicine, Southern Medical University, Guangzhou 510515, China. Electronic address:

Thymic hypoplasia is a primary cellular immunodeficiency that causes susceptibility to serious infections leading to sudden death in infants. Some genetic disorders in humans could result in the evident permanent hypoplasia or occasional aplasia of the thymus at birth. However, determining the genetic etiology of thymic hypoplasia is challenging for the sudden infant death due to primary cellular immunodeficiency. In this study, in order to find the fundamental reasons for sudden death of infants with thymic hypoplasia, 5 infants with suspected thymic hypoplasia and 10 control infants were assessed, and the immunohistochemistry and DNA analysis were used to investigate whether the infants with thymic hypoplasia had DiGeorge syndrome (DGS) with copy number variations (CNVs) in 22q11.2 and other chromosomes. The results showed that the weight of the thymus was significantly lower than the normal except the case 4, and that all the infants had hypocalcemia and a significant decrease or even absence of the markers CD1a, CD2, CD3, CD4 and CD8, which are related to T-cell maturation. In addition, multiplex ligation-dependent probe amplification (MLPA) analysis showed that these infants carried CNVs in 22q11.2 and other associated chromosomes with deletion and duplication of 25 genes. The results of thymus weight, histopathology, molecular pathology and MLPA analysis suggested that DGS predominantly with thymic hypoplasia induced by CNVs caused the sudden death of these infants under various infections or other unexplained reasons, which may provide new insights into the diagnosis of sudden infant death and could help the parents of deceased infants to attach more importance of genetic screening and thymus ultrasound to reduce the postnatal mortality of the infant, and demonstrates the value of genetic diagnosis in the forensic pathology.
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http://dx.doi.org/10.1016/j.forsciint.2022.111323DOI Listing
July 2022

MoCL: Data-driven Molecular Fingerprint via Knowledge-aware Contrastive Learning from Molecular Graph.

KDD 2021 Aug 14;2021:3585-3594. Epub 2021 Aug 14.

Michigan State University, East Lansing, Michigan, USA.

Recent years have seen a rapid growth of utilizing graph neural networks (GNNs) in the biomedical domain for tackling drug-related problems. However, like any other deep architectures, GNNs are data hungry. While requiring labels in real world is often expensive, pretraining GNNs in an unsupervised manner has been actively explored. Among them, graph contrastive learning, by maximizing the mutual information between paired graph augmentations, has been shown to be effective on various downstream tasks. However, the current graph contrastive learning framework has two limitations. First, the augmentations are designed for general graphs and thus may not be suitable or powerful enough for certain domains. Second, the contrastive scheme only learns representations that are invariant to local perturbations and thus does not consider the global structure of the dataset, which may also be useful for downstream tasks. In this paper, we study graph contrastive learning designed specifically for the biomedical domain, where molecular graphs are present. We propose a novel framework called MoCL, which utilizes domain knowledge at both local- and global-level to assist representation learning. The local-level domain knowledge guides the augmentation process such that variation is introduced without changing graph semantics. The global-level knowledge encodes the similarity information between graphs in the entire dataset and helps to learn representations with richer semantics. The entire model is learned through a double contrast objective. We evaluate MoCL on various molecular datasets under both linear and semi-supervised settings and results show that MoCL achieves state-of-the-art performance.
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http://dx.doi.org/10.1145/3447548.3467186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9105980PMC
August 2021

Association of Serum Magnesium with Insulin Resistance and Type 2 Diabetes among Adults in China.

Nutrients 2022 Apr 25;14(9). Epub 2022 Apr 25.

Office of National Nutrition Plan, National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, 27 Nanwei Road, Beijing 100050, China.

Magnesium is an essential mineral for the human body and a cofactor or activator for more than 300 enzymatic reactions, including blood glucose control and insulin release. Diabetes is a well-known global burden of disease with increasing global prevalence. In China, the prevalence of diabetes in adults is higher than the global average. Evidence shows that magnesium is a predictor of insulin resistance and diabetes. However, the majority of studies focus on dietary magnesium instead of serum magnesium concentration. We study the correlation of serum magnesium levels with insulin resistance and Type 2 diabetes. In this prospective cohort study, we included 5044 participants aged 18 years and older without insulin resistance (IR) and diabetes at the baseline from China Health and Nutrition Survey (CHNS). A fasting blood sample was taken for the measurement of both types of magnesium, fasting blood glucose, hemoglobin A1c (HbA1c), and fasting insulin. The homeostatic model (HOMA-IR) was calculated. Demographic characteristics of participants, and risk factors such as intensity of physical activities, smoking status, drinking habit, and anthropometric information were recorded. IR was defined as HOMA-IR ≥ 2.5, and Type 2 diabetes mellitus was defined as fasting plasma glucose ≥ 7.0 mmol/L or HbA1c ≥ 6.5%, or a self-reported diagnosis or treatment of diabetes. A total of 1331 incident insulin resistance events and 429 incident diabetic events were recorded during an average follow-up of 5.8 years. The serum magnesium concentration was categorized into quintiles. After adjusting for relevant covariates, the third quintile of serum magnesium (0.89-0.93 mmol/L) was correlated with 29% lower risk of incident insulin resistance (hazard ratio = 0.71, 95% CI 0.58, 0.86) and with a lower risk of Type 2 diabetes. Multivariable-adjusted hazard ratios (95% confidence intervals) for insulin resistance were compared with the lowest quintile of serum magnesium (<0.85). We found similar results when evaluating serum magnesium as a continuous measure. Restricted cubic spline (RCS) curves showed a nonlinear dose-response correlation in both serum magnesium levels and insulin resistance, and in serum magnesium levels and Type 2 diabetes. Lower serum magnesium concentration was associated with a higher risk of insulin resistance and diabetes.
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http://dx.doi.org/10.3390/nu14091799DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9104014PMC
April 2022

Clinical Study of 30 Novel Variants/Deletions in -Related Disorders.

Front Mol Neurosci 2022 26;15:809810. Epub 2022 Apr 26.

Department of Neonatology, National Children's Medical Center, Children's Hospital of Fudan University, Shanghai, China.

Background: -related disorder is typically characterized as neonatal onset seizure and epileptic encephalopathy. The relationship between its phenotype and genotype is still elusive. This study aims to provide clinical features, management, and prognosis of patients with novel candidate variants of the gene.

Methods: We enrolled patients with novel variants in the gene from the China Neonatal Genomes Project between January 2018 and January 2021. All patients underwent next-generation sequencing tests and genetic data were analyzed by an in-house pipeline. The pathogenicity of variants was classified according to the guideline of the American College of Medical Genetics. Each case was evaluated by two geneticists back to back. Patients' information was acquired from clinical records.

Results: A total of 30 unrelated patients with novel variants in the gene were identified, including 19 patients with single-nucleotide variants (SNVs) and 11 patients with copy number variants (CNVs). For the 19 SNVs, 12 missense variants and 7 truncating variants were identified. Of them, 36.8% (7/19) of the variants were located in C-terminal regions, 15.7% (3/19) in segment S2, and 15.7% (3/19) in segment S4. Among them, 18 of 19 patients experienced seizures in the early neonatal period. However, one patient presented neurodevelopmental delay (NDD) as initial phenotype when he was 2 months old, and he had severe NDD when he was 3 years old. This patient did not present seizure but had abnormal electrographic background activity and brain imaging. Moreover, for the 11 patients with CNVs, 20q13.3 deletions involving , and genes were detected. All of them presented neonatal-onset seizures, responded to antiepileptic drugs, and had normal neurological development.

Conclusion: In this study, patients with novel variants have variable phenotypes, whereas patients with 20q13.3 deletion involving , and genes tend to have normal neurological development.
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http://dx.doi.org/10.3389/fnmol.2022.809810DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9088225PMC
April 2022
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