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The 59th European Association for the Study of Diabetes(EASD) annual meeting was held in Hamburg, Germany from October 2nd to 6th, 2023. In the past decades, there have been significant advancements in the clinical management of diabetes. Novel anti-hyperglycemic medications, particularly those targeting the glucagon-like peptide-1 receptor and dual/multiple receptors, have garnered attention. These medications show great promise in glycemic control, weight reduction, metabolic improvements, and additional benefits. This article provided an overview of some of the key topics discussed at this EASD conference.
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Objective To investigate the frequency and distribution characteristics of gene mutations in children with phenylalanine hydroxylase(PAH)deficiency in Xinjiang.Methods A total of 230 children diag-nosed with PAH deficiency in Urumqi Maternal and Child Health Care Hospital from January 1st,2015 to February 28th,2023 were enrolled in the study.The variation of PAH gene was analyzed and the variation sites of PAH gene in children with different phenotypes were compared.Results A total of 441 PAH gene va-riants were detected in 230 children with PAH deficiency in Xinjiang,with a total detection rate of 95.87％.A-mong them,2 variants were detected in 227 cases,only 1 variant was detected in 2 cases,and 3 variants were detected in 1 case.217 cases were complex heterozygous variants,and 10 cases were homozygous variants.The high-frequency variant loci were c.158G＞A[23.39％(102/441)],c.728G＞A[11.70％(51/441)],c.688G＞A[5.05％(22/441)],c.721C＞T[3.90％(17/441)],c.611A＞G[3.67％(16/441)],c.1238G＞C[3.21％(14/441)].The high-frequency variant loci for classic PKU were c.728G＞A,c.331C＞T,and c.782G＞A;the high-frequency variant loci for mild PKU were c.721C＞T,c.1068C＞A,and c.1301C＞A;the high-frequency variant loci for children with mild HPA were c.158G＞A and c.688G＞A.There were significant differences in the frequency of high frequency mutations among the above three phenotypes(P＜0.05).Conclusion Mild HPA predominates in children with PAH deficiency in Xinjiang.The hotspot loci of the PAH gene in Xinjiang have been clarified,and specific PAH gene loci have been observed in the three different phenotypes,which can provide theoretical basis for prenatal diagnosis and clinical genetic counselling.
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Fangfeng Tongsheng Powder has the effect of dispersing wind heat and internal purging heat. Returning to the origin of Liu Wansu's academic thought, it can be concluded that Fangfeng Tongsheng Powder should be based on the treatment of wind as the symptoms, the treatment of heat as the root, the treatment of both the symptoms and the root, and the double solution of the exterior and the interior. It should be set up for the syndrome of excessive heat and internal and external excess. In recent years, the basic and clinical research directions of this prescription in China mainly include skin diseases, endocrine and metabolic diseases, digestive system diseases, respiratory diseases, etc., while foreign related research focuses on obesity-related metabolic diseases. Studies have found that Fangfeng Tongsheng Powder has the effects of anti-allergy, regulating immunity and improving metabolic disorders. At present, the basic research on Fangfeng Tongsheng Powder in China is relatively insufficient, and the mechanism of Fangfeng Tongsheng Powder needs to be further explored, and more large samples and high-quality RCTs need to be carried out.
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Metabolic disorders,characterized by a complex pathogenesis,are experiencing a rising prevalence globally and a trend toward younger populations,making them a significant public health concern.Olfaction,a crucial sensory function,plays a pivotal role in an individual's nutrition and quality of life.There is a bidirectional relationship between obesity and olfactory function.Olfaction is influenced by nutritional status;simultaneously,it plays a vital role in the regulation of food intake,energy expenditure,and lipid metabolism.Moreover,individuals with metabolic disorders such as type 2 diabetes and obstructive sleep apnea syndrome exhibit olfactory dysfunction.Mechanisms underlying olfactory changes in metabolic disorders involve alterations in metabolic states such as hyperglycemia and insulin resistance.These changes can lead to dysregulation of peptide hormones,adipocyte factors,and neurotransmitters,which may potentially act as mediators between metabolic disorders and olfactory dysfunction.Vascular and neural alterations resulting from metabolic disorders can directly damage olfactory nerves or induce abnormal neural transmission.Furthermore,dysbiosis in the gut microbiota induced by metabolic disorders is a potential mechanism for olfactory dysfunction.Cognitive dysfunction is a significant complication of metabolic disorders.Olfactory dysfunction can serve as an early clinical manifestation of cognitive impairment and contributes to early identification and assessment of diseases.This article reviews recent researches on the relationship between metabolic diseases and olfactory changes and the potential mechanisms.
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Introducción: El ciclismo es una actividad física que se practica de forma recreativa y como actividad laboral, en base a esto los beneficios en la salud varían. Sus efectos pueden extenderse en la regulación de la expresión de citocinas proinflamatorias en la obesidad; sin embargo, se deben estudiar detalles en los indicadores clínicos asociados a otras enfermedades crónico-degenerativas. Objetivo: Identificar los cambios en los parámetros clínicos que sirven como indicadores de riesgo metabólico en personas que realizan ciclismo como ejercicio habitual y como actividad laboral. Métodos: Se realizó una investigación de diseño transversal, descriptivo en el Estado de México, México. Se formaron 3 grupos de 16 participantes provenientes de Toluca y municipios aledaños. Se realizaron mediciones de composición corporal y análisis bioquímicos para identificar las diferencias entre los grupos a través de la prueba t- student y el análisis de varianza ANOVA. Resultados: Los análisis estadísticos reportaron diferencias significativas en las concentraciones de lipoproteínas de alta densindad y triglicéridos. Para el grupo de los conductores de bicitaxi fue más favorable, se detalla como el tiempo de la actividad ayuda a mantener los parámetros de composición corporal como el porcentaje del tejido muscular y adiposo. Conclusiones: Los beneficios del ciclismo se presentaron con diferentes grados de eficiencia de acuerdo con la modalidad en la que se practican. Las variables no cambian de forma significativa en ningún grupo, pueden ser dependientes de otras variables como la alimentación(AU)
Introduction: Cycling is a physical activity, which is practiced recreationally and as a work activity. Its effects may extend to the regulation of the expression of proinflammatory cytokines in obesity; however, details should be studied in the clinical indicators associated with other chronic-degenerative diseases. Objective: To identify changes in clinical parameters that serve as indicators of metabolic risk in people who perform cycling as a regular exercise and as a work activity. Methods: A cross-sectional and descriptive design research was carried out in the State of Mexico, Mexico. Three groups of 16 participants were formed from Toluca and surrounding municipalities. Body composition measurements and biochemical analyzes were performed to identify differences between groups through Student's t test and ANOVA analysis of variance. Results: Statistical analyzes reported significant differences in HDL and triglyceride concentrations. For the group of pedicab drivers it was more favorable, it is detailed how the time of the activity helps to maintain body composition parameters such as the percentage of muscle and adipose tissue. Conclusions: The benefits of cycling were presented with different degrees of efficiency according to the modality in which they are practiced. The variables do not change significantly in any group and may be dependent on other variables such as diet(AU)
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Humains , Mâle , Femelle , Exercice physique , État nutritionnel , Santé au travail , Maladies métaboliques/épidémiologie , Épidémiologie Descriptive , Études transversalesRésumé
Diabetes is a group of metabolic diseases in which there are high blood sugar levels over a prolonged period, and if untreated could lead to complications. This study, carried out at the Igbinedion university teaching hospital Okada to ascertain some hematological parameters, using 69 known diabetes patients who enrolled as an Out-patient in the General Out-Patient Department and 69 non-diabetes apparently healthy individuals as control. Thirty-nine of thesediabetic individuals were female, while thirty were male individuals. For the non-diabetic individuals, thirty-seven were female, and thirty-two were male representing 53.6% and 46.4% respectively. Ethical approval from the institution was sought prior to commencement of study and quality control of reagents was strictly maintained. Five millilitres of whole blood was collected into an Ethylene Diamine Tetra-Acetic acid (EDTA) anticoagulated bottle, and haematological parameters including PCV, HB, WBC, RBC,MCV, MCH, MCHC and platelet count were conducted for all individuals. Result obtained for Diabetic individuals showed a mean value of 34.63, 11.24, 4.41, 7.20 and 204.27 for PCV, Hb, RBC, WBC and platelets counts respectively, while for non-diabetic individuals, a mean value of 35.04, 10.09, 3.99, 7.07 and 262.56 respectively.Hb concentration and RBC count were statistically significant (p < 0.05). The Red cell indices, MCV and MCHC, were statistically significant. This study showed a statistically significant variation in some hematological parameters of diabetic patients compared to control group .Low platelet count and alteration to red cell morphology as indicated in values of MCV and MCHC among diabetic patients are indicators of thrombotic potential. Hence, routine screening of hematological parameters should be considered for proper management of diabetic patients.
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Objective:To investigate the value of visceral fat index (VAI) and lipid accumulation product (LAP) on predicting metabolic associated fatty liver disease (MAFLD) in the population without overweight/obesity.Methods:This study is a cross-sectional study. The physical examination data derived from International Physical Examination and Health Center of the Second Affiliated Hospital of Harbin Medical University from January to December 2021 were collected. According to the inclusion and exclusion criteria, a total of 4 304 subjects without overweight/obesity aged from 18-75 were included in this study. The subjects were divided into two groups with MAFLD or without MAFLD, according to the diagnostic criteria of MAFLD provided by The Asian Pacific Association for the Study of the liver clinical practice guidelines for the diagnosis and management of metabolic associated fatty liver disease. Comparison of the clinical parameters (blood pressure, lipid, glucose) and obesity measurement indexes (BMI, VAI, LAP) between the two groups was analyzed. All subjects were respectively divided into four groups according to BMI, VAI and LAP quartile, which were defined as A, B, C, D. The prevalence of MAFLD in the population without overweight/obesity in quartile area groups of different obesity measurement indexes was calculated. Spearman′s rank correlation was used to evaluate the correlation between BMI, LAP, VAI and MAFLD in the population without overweight/obesity, respectively. Meanwhile, receiver operating characteristics (ROC) curves were used to calculate area under the curve (AUC) and evaluate the accuracy of BMI, VAI and LAP on predicting for MAFLD in the population without overweight/obesity.Results:The prevalence of MAFLD in the population without overweight/obesity was 10.87%. In the population without overweight/obesity, the clinical data blood pressure, total cholesterol (TC), low density lipoprotein cholesterol (LDL-C), triglyceride (TG) and fasting plasma glucose (FPG) in the group with MAFLD were significantly higher than those of the group without MAFLD (131/80 vs 113/70 mmHg, 5.29 vs 4.65 mmol/L, 3.21 vs 2.75 mmol/L, 1.87 vs 0.89 mmol/L, 5.60 vs 4.95 mmol/L; P<0.001), but high density lipoprotein cholesterol (HDL-C) of the group with MAFLD was significantly lower than that of the group without MAFLD (1.19 vs 1.49 mmol/L; P<0.001). The obesity measurement indexes (BMI, VAI, LAP) in the group with MAFLD were significantly higher than those of the group without MAFLD (22.10 vs 20.70 kg/m 2, 2.64 vs 1.00, 36.27 vs 12.48; all P<0.001). In the population without overweight/obesity, the prevalence of MAFLD was increased with the increase of BMI, VAI and LAP quartile area, and there was a linear correlation between MAFLD and obesity measurement indexes above. Spearman′s rank correlation analysis showed that correlation coefficient between obesity measurement indexes and MAFLD in the population without overweight/obesity was respectively LAP (0.427)>VAI (0.406)>BMI (0.282). ROC curve analysis showed that in the population without overweight/obesity, LAP had the highest accuracy on predicting MAFLD, with the AUC value of 0.896 (0.886-0.905), the optional cut-off value was 20.75, sensitivity and specificity was 85.9% and 79.0%, respectively. VAI (0.876) took the second place and BMI (0.761) located lastly. Conclusions:Both VAI and LAP have good prediction ability for MAFLD in the population without overweight/obesity. However, compared with VAI, LAP has higher accuracy on predicting MAFLD in the population without overweight/obesity.
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The 83rd American Diabetes Association(ADA) Academic Conference was held from 23 to 26 June, 2023 in San Diego, U. S.A, in a combined online and offline format. The conference featured various aspects, including diabetes epidemiology, diabetes complications, and advances in the treatment of diabetes and related metabolic diseases. This article provides an overview of Banting awards and research advancements in diabetes and other metabolic diseases.
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Objective:To investigate serum lipidomic profiles in patients with chronic actinic dermatitis (CAD), and to search for biomarkers of CAD.Methods:A retrospective analysis was conducted. Serum samples were collected from 46 patients with CAD and 16 age- and gender-matched healthy controls in the Guangzhou Institute of Dermatology from April 2011 to December 2021. Changes in serum lipid composition and expression were assessed by liquid chromatography-mass spectrometry. Principal component analysis, partial least squares discriminant analysis, and orthogonal partial least squares discriminant analysis were performed to screen differential biomarkers, and receiver operating characteristic (ROC) curve analysis was conducted to screen diagnostic markers. Comparisons of the age and gender distribution between groups were performed using t test and chi-square test, respectively. Results:The 46 CAD patients were aged from 30 to 84 (60.39 ± 10.52) years, including 41 males and 5 females; the 16 healthy controls were aged from 50 to 89 (59.81 ± 10.72) years, including 14 males and 2 females; there were no significant differences in the age or gender distribution between the two groups (age: t = 0.19, P = 0.853; gender: χ2 = 0.03, P = 0.859). Totally, 4 136 lipid molecules belonging to 40 subclasses were identified in the serum samples from CAD patients as well as healthy controls. Twenty-two differential lipid molecules were identified between the CAD patients and healthy controls, belonging to 9 subclasses (triglycerides, sphingomyelin, phosphatidylserine, phosphatidylethanolamine, monofatty acid glycerides, lysophosphatidylcholine, hexose ceramide, diglycerides, and cardiolipin). When the combinations of triglycerides (37.7e) and Na, those of monoglycerides (22.3) and NH 4, or those of phosphatidylserine (18.0_18.1) and H served as diagnostic markers separately, the areas under the ROC curve (AUCs) were all > 0.8, and the AUCs of 16 differential lipid molecules were all > 0.7. Conclusion:The serum lipid composition differed between healthy controls and CAD patients, and the combinations of triglycerides (37.7e) and Na, those of monoglycerides (22.3) and NH 4, and those of phosphatidylserine (18.0_18.1) and H may be promising biomarkers for the diagnosis of CAD.
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Objective:To identify factors influencing the recurrence of psoriasis, and to explore the association between the recurrence of psoriasis and metabolism-related markers.Methods:A retrospective investigation was conducted on the recurrence status of patients with psoriasis vulgaris, who visited the Department of Dermatology, Peking University Third Hospital from January 2016 to April 2023. Patients with recurrence intervals > 3 months were included in the non-rapid recurrence group (non-persistent psoriasis group), while patients with recurrence intervals ≤ 3 months were included in the rapid recurrence group (persistent psoriasis group). General conditions and relapse triggers were analyzed between the two groups. Metabolism-related laboratory data, as well as detection results of serum fatty acid-binding protein 4 (FABP4) and FABP5 in some patients, were collected, and relationships between these indicators and psoriasis recurrence were analyzed. Comparisons between groups were performed using t test, non-parametric test or chi-square test; linear regression analysis was performed to identify possible factors influencing the FABP levels, and multivariate logistic regression analysis to identify relapse triggers. Results:A total of 255 patients were collected, including 194 with non-persistent psoriasis and 61 with persistent psoriasis. There were no significant differences in gender, age (stratified every 30 years), course of psoriasis (stratified every 10 years), family history of psoriasis, and main therapies between the two groups (all P > 0.05). The patients in the non-persistent psoriasis group were more prone to recurrence due to seasonal effects ( χ2 = 18.98, P < 0.001). The proportion of patients with dyslipidemia was significantly higher in the persistent psoriasis group than in the non-persistent psoriasis group ( χ2 = 54.44, P < 0.001). Compared with the non-persistent psoriasis group, the persistent psoriasis group showed significantly increased body mass index and levels of triglycerides, uric acid, and C-reactive protein (all P < 0.05), but significantly decreased high-density lipoprotein cholesterol levels ( U = 3 348.00, P < 0.001). The levels of FABP4 and FABP5 were significantly higher in the persistent psoriasis group than in the non-persistent psoriasis group (both P < 0.05). In the linear regression model adjusted for body mass index and dyslipidemia, FABP4 levels were associated with recurrence status of psoriasis ( P < 0.001). Multivariate logistic regression analysis revealed a significant correlation between dyslipidemia and persistent psoriasis ( P < 0.001) . Conclusion:The psoriasis patients with recurrence intervals ≤ 3 months may be more prone to develop metabolic diseases such as dyslipidemia, and dyslipidemia and elevated FABP4 levels may be associated with the recurrence of psoriasis.
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This paper reports a case of neonatal lupus syndrome manifested by metabolic disease. A male neonate was admitted to the Children's Hospital of Soochow University due to poor response and vomiting for 1 day. Based on the clinical symptoms, including the patterned skin and a full anterior fontanelle, and a result of leukocytosis, neonatal sepsis was considered. Lysinuric protein intolerance was not excluded from the genetic metabolic disorders screening. The patient was positive for lupus-related autoantibodies and antinuclear antibodies, which were also found in his mother and elder sister. He had no functional variant of the SCL7A7 gene, a gene related to lysinuric protein intolerance, thereby the diagnosis of neonatal lupus syndrome manifested by metabolic disorders was confirmed. After treatment with methylprednisolone, the patient recovered well with no specific change in blood genetic metabolism at re-examination. Monthly follow-up after discharge found decreased antibody titers.
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The rare endocrine and metabolic diseases, due to their varieties, face many challenges in the study of clinical diagnosis, pathogenesis, and treatment. In the past a couple of years, the research on rare endocrine and metabolic diseases has been gradually improved. The diagnosis has made great progress. The research into molecular mechanism of rare endocrine and metabolic diseases has significantly advanced. The effort in exploring the breakthroughs and progress in therapeutic methods based on the pathogenesis of the diseases has also made. This article provides a brief overview of the current status of research into diagnosis, mechanism, and treatment of rare endocrine and metabolic diseases. In addition, the article points out the problems and challenges and proposes future possibilities.
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The 82nd American Diabetes Association Academic Meeting was held in New Orleans, U. S.A. on June 3, 2022. The meeting had both in-person and virtual activities, encompassed the advances in diabetes study, prevention, and management, including the latest research results of Chinese researchers. This summary highlights the important research findings, including congress awards, drug research progress, management of complications/comorbidities, update of guideline/consensus, and progress of other metabolic diseases, with an aim to provide reference for diabetes management in China.
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The 58 th annual scientific meeting of the European Association for the Study of Diabetes(EASD) was held in Stockholm in the form of online and offline combination from 19 to 23, September 2022. This meeting released the latest research findings of diabetes and metabolism through symposiums, oral presentations and discussions, and other presentation formats. The following highlights spotlight the 2022 EASD awards, consensus report on the management of hyperglycemia in type 2 diabetes, updated dietary guidelines for the treatment and prevention of diabetes, and other academic progress and research hot points in diabetes mellitus and metabolic diseases, aiming to provide references for the clinical management of diabetes mellitus and other related metabolic diseases in China.
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Objective:To investigate relationships between serum growth differentiation factor 15 (GDF15) and glycolipid metabolism in patients with metabolic associated fatty liver disease (MAFLD).Methods:The current investigation was a cross-sectional study. A total of 333 patients from the Fengxian District Central Hospital were recruited into the study after physical examination from February 2020 to February 2021. There were 107 patients with MAFLD and type 2 diabetes mellitus (T2DM), including 54 males and 53 females with a mean age of (57±11) years. There were 65 patients with simple MAFLD only, including 32 men and 33 women with a mean age of (49±5) years. There were 105 patients with T2DM only, including 53 men and 52 women, with a mean age of (56±10) years. A control group of 56 people without MAFLD or diabetes,28 male, 28 female, mean age (48±6) years, was also included in the study. Serum GDF15 was measured via enzyme-linked immunosorbent assays. IBM SPSS 26.0 was used for statistical analysis. Logistic regression was used to evaluate relationships between GDF15 and metabolic abnormalities in MAFLD patients.Results:GDF15 progressively increased in the control [385 (296, 484) ng/L], nonobese MAFLD [388 (319, 435) ng/L], obese MAFLD [426 (354, 527) ng/L], T2DM [664 (483, 900) ng/L], and MAFLD+T2DM groups [770 (560, 1 074) ng/L]( H=113.82, P=0.001). There was no significant difference in serum GDF15 between the simple MAFLD [406 (339, 524) ng/L] and control group ( U=1 505.50, P=0.132). GDF15 was significantly higher in the MAFLD+T2DM group than in the T2DM-only group ( U=4 573.50, P=0.019). In logistic regression analysis increased GDF15 was associated with increased risks of simple MAFLD [odds ratio ( OR)=2.202], T2DM ( OR=29.656), and MAFLD+T2DM( OR=58.197). In patients with MAFLD, serum GDF15 was higher in the FIB4 index>1.45 group [773 (534, 1 162) ng/L] than in the FIB4 index<1.45 group [527 (389, 787) ng/L] ( U=1 709.50, P<0.001). Increased GDF15 was associated with an increased risk of advanced liver fibrosis ( OR=2.388). Conclusion:In patients with simple MAFLD, GDF15 level was not significantly higher than in the control group. In the T2DM-only group and the MAFLD+T2DM group GDF15 was significantly higher than in the control group. Increased serum GDF15 was associated with increased risk and severity of MAFLD complicated with abnormal glucose and lipid metabolism. High GDF15 increased the risk of advanced fibrosis in MAFLD patients.
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Cardiometabolic disease mainly refers to the cardiovascular disease caused by the increased metabolic burden, including hypertension, diabetes, dyslipidemia, coronary heart disease, stroke, and so on. In China, the incidence of this kind of disease is continuous rising, and cardiometabolic disease is more and more diagnosed in patients in younger age. Currently, continuous exploration of new biomarkers and detection methods, standardization of testing techniques, strengthening of clinical and laboratory communication and cooperation, and cultivation of interdisciplinary talents are the major focuses in term of promoting the development of laboratory medicine in the field of cardiovascular metabolism.
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Exposure to fine particulate (PM2.5) has become a serious environmental risk factor threatening public health. A large number of epidemiological studies have shown that PM2.5 exposure is significantly associated with cardiovascular health. At present, studies have found that PM2.5 components are associated with the incidence and death of cardiovascular metabolic diseases (hypertension, diabetes, coronary heart disease, stroke, etc.), which may be due to the different components of PM2.5 in different regions, which have different effects on cardiovascular health. This article reviews the effects of different components of PM2.5 on cardiovascular metabolic diseases based on their sources and pathogenesis. The limitations of the effects of PM2.5 components on cardiovascular metabolic diseases are also discussed.
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Bariatric surgery is the most effective treatment for patients with severe obesity, which can significantly improve the metabolic disorders, especially type 2 diabetes mellitus. Bariatric and metabolic surgery is the latest and fastest-growing branch of surgery, with the types of procedure and other novel treatment modalities are still evolving and in progress. The authors summarize the recent advancement related to novel bariatric and metabolic surgery in the treat-ment of morbid obesity and type 2 diabetes mellitus in recent years through literature search, which can be divided into the following three parts: (1) novel surgical procedures and new guideline of indication. Sleeve gastrectomy and Roux-en-Y gastric bypass are the most performed bariatric surgery. Duodenal switch or the variant of one anastomosis duodenal ileostomy are also accredited procedures but been less performed. One anastomosis gastric bypass is the most recently accredited bariatric surgical procedures with better safety profile and weight loss efficacy than most of the procedures. For other novel procedures, bipartition procedure may be the next accredited proce-dure. A new worldwide guideline is recently launched and the indication for bariatric surgery is lowered BMI 27.5 kg/m 2 for Asian. (2) The effect and mechanism of bariatric surgery. Bariatric surgery can significantly reduce the incidence of cardiovascular disease and mortality in obese patients. The main beneficiary group is patients with diabetes mellitus. Along with the recent basic research and the success of new gut hormone related drugs, the mechanism of bariatric surgery can be mostly attributed to gut hormonal effect, however, gastric volume still play an important role. (3) Novel obesity treatment modalities. Endoscopic obesity treatment has a major progress in the success of endoscopic gastroplasty by endoscopic suturing designs. More noteworthy is the development of new intestinal hormone drug therapy, which can achieve a weight loss of 14% in one year by injec-ting once a week glucagon-like peptide-1 preparation, and then combining two or three intestinal hormone drugs can achieve a weight loss of 24% in one year, which is close to the effectiveness of bariatric surgery. Pharmacologic treatment of obesity is very promising and expected. With the increasing severity of obesity and diabetes mellitus in the world, in addition to the explosive develo-pment of bariatric and metabolic surgery in recent years, many new surgical methods and new treatments, especially new and effective intestinal hormone related therapeutic drugs, have been developed. The success of bariatric and metabolic surgery depends on a multidisciplinary team with rich clinical experience: precise preoperative planning and comprehensive postoperative manage-ment, as well as patient understanding and cooperation, in order to achieve the best results.
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At present, obesity and overweight patients are increasing year by year in the world. Bariatric surgery is the most effective method for treating obesity at present. Due to its high risk, large trauma, irreversible operation, high cost and patient preference, the overall acceptance degree is not high at present. With the development of endoscopic technology and materials and equipment, various surgical methods emerge one after another. They are less invasive, reversible and similar to traditional bariatric surgery in weight loss effect. They are more and more widely used in obesity and metabolism. Depending on the site of the endoscopic intervention: The authors review the advances in endoscopic bariatric surgery for obesity, including the different principles of surgery and the effects of bariatric surgery on different sites.
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Objective:To investigate the efficiency of biochemical screening and hotspot gene screening in the detection of neonatal inherited metabolic diseases.Methods:This was a prospective multi-center study.The study was carried out on 21 442 neonatal samples collected from 12 hospitals in 10 provinces from November 2020 to November 2021.The results of biochemical screening and hotspot gene screening were analyzed jointly.Biochemical screening methods included glucose-6-phosphate dehydrogenase deficiency enzyme activity assay and neonatal tandem mass spectrometry.Genetic screening analysis involved 135 genes associated with 75 neonatal diseases.Results:Of all the 21 442 neonates enrolled in the study, 21 205 were subject to biochemical screening.A total of 813 cases were positive in the initial screening, and 0.45% of them (95 cases) were diagnosed after recall.All the 21 442 neonates underwent gene screening.About 168 positive cases were detected in the initial screening, and 0.73% (156 cases) of them were confirmed finally.Biochemical and genetic screening improved the detection sensitivity of such diseases as primary carnitine deficiency, neonatal intrahepatic cholestasis caused by citrin deficiency, and 2-methylbutyrylglycinemia.Moreover, biochemical and genetic screening enabled the detection of more diseases, including the common single-gene genetic diseases such as thalassemia and Wilson disease.Conclusions:In neonatal screening, the combination of biochemical screening and gene screening expands the number of diseases detected and improve screening efficiency.