Research progress on hereditary endocrine and metabolic diseases associated with sensorineural hearing loss / 临床耳鼻咽喉头颈外科杂志

Hereditary endocrine and metabolic diseases , caused by genetic factors, exhibit complex and diverse symptoms, including the possibility of concurrent sensorineural deafness. Currently, there is a limited clinical understanding of hereditary endocrine and metabolic diseases that manifest with deafness, the pathogenesis remains unclear,and there is a lack of effective diagnostic and treatment methods. This article summarizes the research progress of hereditary endocrine and metabolic diseases complicated with deafness from the pathogenesis, clinical phenotype, diagnosis and treatment. Understanding the current research progress and integrating genetic analysis into clinical practice are crucial for accurate diagnosis and treatment, evaluating clinical efficacy, and providing effective genetic counseling for these diseases.

The prevalence of vascular and metabolic complications after lung transplant in people with cystic fibrosis in a Dutch cohort

Abstract Background With improvements in care for people with Cystic Fibrosis (pwCF), total survival after Lung Transplantation (LTx) will be longer. Therefore, this population's up-to-date analysis of late-onset post-transplant metabolic and vascular complications will be more relevant in current clinical practice. Methods We studied 100 pwCF who underwent an LTx between 2001 and 2020 at the University Medical Centre Utrecht, the Netherlands. The median age at transplant was 31 years and 55 percent was male. We assessed survival, the prevalence of metabolic complications (diabetes, renal damage, dyslipidemia, and metabolic syndrome), and vascular complications (hypertension, heart rhythm disease, micro-, and macrovascular disease). In addition, differences in risks for developing complications based on sex and overall survival were analyzed. Results The prevalence of macrovascular disease raised to 15.9 percent 15 years post-LTx. The prevalence of diabetes increased from 63 percent at LTx to over 90 percent 15 years post-LTx and the prevalence of dyslipidemia increased from 21 percent to over 80 percent. Survival 1-, 2-, 5-, and 10 years post-transplant were 84, 80, 76, and 58 percent respectively. No significant differences were found based on sex. Conclusion This study shows that the prevalence of cardiovascular risk factors increases after LTx for CF, potentially leading to major complications. These data emphasize the necessity of regular check-ups for metabolic and vascular complications after LTx with specific attention to renal damage. Early recognition of these complications is crucial and will lead to earlier intervention, which could lead to improved prognosis after lung transplantation.

Application of MassARRAY genotyping assay in the diagnosis of neonatal genetic metabolic diseases / 中华检验医学杂志

Objective:To investigate the accuracy, effectiveness and feasibility of MassARRAY genotyping assay in the diagnoses of neonatal genetic metabolic diseases.Methods:This is a retrospective study. From December 2016 to January 2020, newborns were screened by tandem mass spectrometry at the Zhejiang Newborn Screening Center, among which the data of 7 922 suspected positive cases of genetic metabolic diseases were collected. These patients were then tested for the common variants of 27 genetic metabolic diseases by MassARRAY genotyping assay, along with further testing using Sanger or next-generation sequencing used to verify and/or further search for potential variants.Results:A total of 1 408 cases were tested with MassARRAY. Among these, 307 cases were confirmed with certain genetic metabolic diseases. The detection rate of hyperphenylalaninemia was the highest, followed by primary carnitine deficiency, short acyl-coA dehydrogenase deficiency and methylmalonic acidemia. With these cases, the consistency of Sanger sequencing and MassARRAY was 100% (307/307). Another 287 cases were identified as carriers by MassARRAY with a 49.1% (141/287) consistency in reference to Sanger sequencing, mainly involving SLC22A5 and MCCC1 genes. Meanwhile, 50.8% (146/287) of these cases were found to have another variant mainly involving PAH, PTS and ACADS genes. The remaining 814 cases have no variants; 158 cases out of these patients have continuously abnormal amino acids, acyl carnitines, urine organic acid and/or other biochemical indices, and were tested by next-generation sequencing, among which 38% (60/158) were detected with two variants. In this study, a total of 513 patients with genetic metabolic disease were diagnosed, and the detection rate of MassARRAY was 59.8% (307/513). Conclusions:MassARRAY genotyping assay can be used as an early molecular screening method for neonatal genetic metabolic diseases. The detection rate is particularly high in diseases with a high concentration of hotspot variants, such as hyperphenylalaninemia and primary carnitine deficiency. The future application value of MassARRAY should be further improved by continuously optimizing its ability to identify new disease genes and potential variable sites.

Metabolic Disease Management Guideline for National Metabolic Management Center(2nd edition) / 中华内分泌代谢杂志

The latest epidemiological data suggests that the situation of adult diabetes in China is severe, and metabolic diseases have become significant chronic illnesses that have a serious impact on public health and social development. After more than six years of practice, the National Metabolic Management Center(MMC) has developed distinctive approaches to manage metabolic patients and has achieved a series of positive outcomes, continuously advancing the standardized diagnosis and treatment model. In order to further improve the efficiency, based on the first edition, the second edition guideline was composed by incorporating experience of the past six years in conjunction with the latest international and domestic guidelines.

Improvement and development direction of bariatric metabolic surgery / 中华消化外科杂志

In more than half a century of the development of bariatric metabolic surgery, a variety of classic surgical methods have been formulated. However, the improvement and innovation of bariatric metabolic surgery has never stopped. The replacement of new and old surgical methods in clinical application and development reflects the vitality and progress in the field of bariatric metabolic surgery, and also promotes the development of bariatric metabolic surgery to the best balance between benefits and risks. In the early stages, studies in metabolic surgery are more inclined to confirm the efficacy, safety and mechanism of classical procedures. In recent years, metabolic surgeons around the world have become more inclined to focus on the exploration and innovation of new procedures. In addition, the improvement of biliopancreatic diversion with duodenal switch and the sleeve gastrectomy plus procedures have gradually become hot spots for surgical innovation. However, the new techniques are diverse, scattered and partially overlapping. The authors make a comment on this content, in order to provide assistance to clinical and scientific research.

An overview of disease treatment strategies targeting the alternative splicing of pre-mRNA / 药学学报

Alternative splicing of pre-messenger RNA (pre-mRNA) is a crucial mechanism for the diversity of the human transcriptome and proteome. Alternative splicing is a complex gene regulation process. Whole-transcriptome analysis shows that 95% of human exonic genes are alternatively spliced, involving various cis-acting elements and trans-acting factors. Any changes in any component or step may cause erroneous splicing events and lead to the occurrence of various related diseases. In addition to gene replacement therapy that directly changes the splicing results, RNA splicing modification is expected to become a new therapeutic strategy to alleviate or treat diseases by targeting and correcting abnormal pre-mRNA splicing. Splicing modification tools currently developed including RNA trans-splicing, antisense oligonucleotides, small interfering RNA, and small molecule drugs can correct abnormal splicing through different ways. This article reviews the resent progress of epigenetic regulation of pre-mRNA alternative splicing in recent years, and discusses the occurrence and regulation of alternative splicing, the types of diseases caused by related splicing defects, and the current-used tools for targeting and altering splicing. The importance of splicing modification strategies in the future treatment of human diseases is envisioned.

Quality assessment of screening for neonatal inherited metabolic disease in Chaoyang District from 2012 to 2021 / 预防医学

Objective @#To evaluate the quality of neonatal inherited metabolic diseases screening in Chaoyang District, Beijing Municipality from 2012 to 2021, so as to provide insights into improvements in the screening quality and efficiency of neonatal inherited metabolic diseases. @*Methods@#Data pertaining to screening of neonatal inherited metabolic disease in Chaoyang District from 2012 to 2021 were captured from Beijing Center for Neonatal Disease Screening. The percentage of screening, eligible rate of blood smears collection, re-examination rate of suspected cases, and definitive diagnosis of congenital hypothyroidism (CH), phenylketonuria (PKU) and congenital adrenal hyperplasia (CAH) were analyzed to evaluate the quality of neonatal inherited metabolic diseases screening in Chaoyang District.@*Results@#There were 484 002 live neonates in Chaoyang District from 2012 to 2021, and 481 395 neonates were screened for inherited metabolic diseases, with a screening rate of 99.46% and 99.71% eligible rate of blood smears collection. A total of 4 305 suspected positive cases were screened, including 4 148 cases recalled for re-examinations, with a 96.35% re-examination rate of suspected cases, and the re-examination rates of CH, PKU and CAH were 96.37%, 96.79% and 95.65%, respectively. Totally 482 neonates were definitively diagnosed with inherited metabolic diseases, with an overall incidence rate of 1/999, and the incidence rates of CH (307 cases), hyperthyrotropinemia (103 cases), PKU (66 cases) and CAH (6 cases) were 1/1 568, 1/4 674, 1/7 294 and 1/20 233, respectively.@*Conclusions@#The screening rate and re-examination rate of neonatal inherited metabolic diseases was both more than 95% in Chaoyang District from 2012 to 2021. Improving the management of neonatal inherited metabolic diseases screening and the recall of suspected cases is required.

Research progress on dietary and lifestyle inflammatory scores and their relationship with metabolic diseases / 公共卫生与预防医学

Objective To analyze the relationship between dietary and lifestyle inflammatory scores and metabolic syndrome, diabetes mellitus, cardiovascular disease, non-alcoholic fatty liver disease, tumor and other common metabolic diseases, and to explore the impact of dietary and lifestyle inflammatory potential on metabolic diseases, so as to provide new ideas for the diagnosis, treatment and prevention of metabolic diseases. Methods Databases such as CNKI, Wanfang , and PubMed were searched, and literatures related to the dietary and lifestyle inflammatory scores (DLIS) and metabolic diseases were reviewed . Results Seven articles showed that dietary and lifestyle inflammation scores had a positive correlation with metabolic diseases, and two articles showed that only lifestyle inflammatory scores had a positive correlation with metabolic diseases. Conclusion Dietary and lifestyle inflammatory scores may be positively correlated with metabolic diseases, but some results are still controversial. Further studies are needed to prove the correlation between DLIS and metabolic diseases.

Application of live biotherapeutic products and perspective in the treatment of inherited metabolic disease / 生物工程学报

Live biotherapeutic products (LBPs) refer to the living bacteria derived from human body intestinal gut or in nature that can be used to treat the human disease. However, the naturally screened living bacteria have some disadvantages, such as deficient therapeutic effect and great divergence, which fall short of the personalized diagnosis and treatment needs. In recent years, with the development of synthetic biology, researchers have designed and constructed several engineered strains that can respond to external complex environmental signals, which speeded up the process of development and application of LBPs. Recombinant LBPs modified by gene editing can have therapeutic effect on specific diseases. Inherited metabolic disease is a type of disease that causes a series of clinical symptoms due to the genetic defect of some enzymes in the body, which may cause abnormal metabolism the corresponding metabolites. Therefore, the use of synthetic biology to design LBPs targeting specific defective enzymes will be promising for the treatment of inherited metabolic defects in the future. This review summarizes the clinic applications of LBPs and its potential for the treatment of inherited metabolic defects.

Research progress on roles of ultraviolet irradiation in diseases / 环境与职业医学

The electromagnetic spectrum emitted by the sun includes visible light, infrared, and ultraviolet (UV). Among them, UV is one of the hotspots of research. Previous studies have paid more attention to the impact of UV on the skin because UV is one of the causes of skin damage. The physiological effects of UV on the skin are well understood, but its impacts on other organs of the body and other human diseases are unclear yet. This review pointed to the benefits of UV exposure in reducing weight gain, metabolic dysfunction, and cardiovascular disease. In addition, UV exposure may be helpful in reducing the incidence of diseases such as diabetes and colitis. UV may also play a role in inhibiting the development of myopia and depression. These findings provide new ideas for applying UV in the treatment of human diseases in the future. This paper reviewed the impacts of UV exposure on human non-skin diseases and explored the possibility of damage of acute UV exposure to organs, not only at the skin level, clarified the benefits and harms of UV for human body, and provided theoretical reference and research directions for deep UV exploitation and UV dose control.

Research progress on ferroptosis regulated by glycolysis-fatty acid metabolism in metabolic diseases / 药学学报

In metabolic diseases, the accumulation of reactive oxygen species and oxidative stress are closely associated with ferroptosis. As a key regulatory factor, the imbalance between glycolysis and fatty acid metabolism can participate in ferroptosis directly or indirectly, thereby regulating the occurrence and development of various metabolic diseases. The essence of ferroptosis is a new regulatory cell death mode, which is caused by the excessive accumulation of iron-dependent lipid peroxide. It is closely related to glycolysis and fatty acid metabolism, which plays an important role in metabolic diseases. This regulatory cell death mode is significantly distinguished from other programmed cell death modes and has unique changes in cell morphology, symbolic characteristics and mechanisms. This paper first illustrates the main mechanism of glycolysis and fatty acid metabolism imbalance in the occurrence of ferroptosis, then reviews the research progress of ferroptosis in tumor, diabetes, rheumatoid arthritis and other metabolic diseases, and finally reveals the internal connection between glycolysis-fatty acid metabolism imbalance and ferroptosis, as well as its impacts on metabolic diseases, which provide new strategies for the prevention and treatment of metabolic diseases.

Diabetes mellitus: los orígenes de un no tan dulce término

Muy frecuentemente en la práctica médica se suele hacer referencia al término diabetes mellitus, pero escasamente nos preguntamos su origen etimológico e histórico, ya que no se corresponde a palabras propias del idioma inglés o español. Lo cierto es que este concepto ha sido construido a lo largo de los años, desde épocas ancestrales, para describir un fenómeno patológico del cual aún no se tenía mucho conocimiento. A partir de ello, resulta curioso y útil comprender las connotaciones que le han dado al término los distintos pensadores y científicos a través de una somera investigación sobre lo ya publicado en distintos textos científicos, con el fin de comprender a la diabetes mellitus no solo como una enfermedad con sus consecuentes subclasificaciones, sino como un fenómeno histórico que ha cambiado el curso de la humanidad y de la práctica médica hasta la actualidad. Hay registros de la existencia de la diabetes mellitus desde alrededor del 1500 a.C. que provienen de distintas culturas como la hindú, la egipcia, la griega, la china, entre otras. Con el paso de los años se logró reconocer y describir la signo-sintomatología que la caracteriza, pero hubo dificultades para identificar las causas responsables de este cuadro. El amplio estudio de este padecimiento por diversos personajes históricos ha logrado establecer distintas entidades y formas de manifestación, como la diabetes tipo 1 y tipo 2, diabetes insípida, etc., que hasta la fecha sufre modificaciones de acuerdo con los nuevos hallazgos científicos.

Very frequently in medical practice, reference is made to the term diabetes mellitus, but we hardly ask ourselves its etymological or historical origin, since it does not correspond to words of the English or Spanish language. The truth is that this concept has been built over the years, since ancient times, to describe a pathological phenomenon that was not yet widely known. From this, it is curious and useful to understand the connotations that different thinkers and scientists have given to the term through a brief investigation of what has already been published in different scientific texts, in order to understand diabetes mellitus not only as a disease with its consequent subclassifications, but as a historical phenomenon that has changed the course of humanity and medical practice to the present. There are records of the existence of diabetes mellitus from around 1500 BC. that come from different cultures such as Hindu, Egyptian, Greek, Chinese, among others. Over the years, it was possible to recognize and describe the signs and symptoms that characterize it, but there were difficulties in identifying the causes responsible for this condition. The extensive study of this condition by various historical figures has managed to establish different entities and forms of manifestation, such as type 1 and type 2 diabetes, diabetes insipidus, etc., which to date has undergone modifications according to new scientific findings.

Descripción de las características sociodemográficas y clínicas de pacientes con litiasis renal

Contexto: los cálculos renales son cúmulos o depósitos de minerales que se forman en los cálices, la pelvis renal o el tracto urinario. Objetivo: describir las características sociodemográficas y clínicas de una muestra de pacientes con litiasis renal, mayores de 18 años. Metodología: estudio observacional descriptivo de pacientes atendidos en una consulta ambulatoria de Nefrología en Manizales en el periodo 2010-2020, donde se contaba con estudios en sangre, orina de 24 horas y estudio fisicoquímico del cálculo, además de datos sociodemográficos y clínicos relacionados. Se fragmentaron en grupos, de acuerdo con los hallazgos encontrados en los cálculos disponibles, dividiéndose en oxalato de calcio en su totalidad, calcio mixto con otro compuesto y el último grupo de cálculo no calcio. Resultados: se identificaron 54 pacientes con nefrolitiasis, de los cuales 14 de ellos fueron excluidos. Finalmente, 40 pacientes cumplieron con los criterios de inclusión. La mediana de edad fue 52,5 años, predominio del sexo masculino (55 %), donde se encontró en 20,5 % hiperuricemia, hipercalcemia en 17,6 %, hiperfosfatemia en 5 % e hipercaliemia en 7,5 %. En orina se encontró: hipocitraturia en el 71,1 %, seguido de hipercalciuria (12,5 %), hiperuricosuria (10 %) e hiperoxaluria (5 %). En 17 de los pacientes (42,5 %) se logró el estudio de la composición fisicoquímica del cálculo, en ellos la variedad de calcio mixto fue la más frecuente (55,5 %). Conclusiones: este estudio describe las características de pacientes con cálculos renales, mostrando que la mayoría tiene alteraciones metabólicas asociadas a nefrolitiasis, siendo la hipocitraturia el hallazgo más frecuente y que la mayoría de los cálculos tiene calcio en su composición.

Background: Kidney stones are accumulations or mineral deposits that form in the calyces, renal pelvis, or urinary tract. Purpose: To describe the sociodemographic and clinical characteristics of a sample of patients with kidney stones over 18 years of age. Methodology: Descriptive observational study. Patients treated in an outpatient nephrology and urology consultation in Manizales during the years 2010 to 2020, in which there were studies in blood, 24-hour urine, and a physicochemical study of the stone, as well as related sociodemographic and clinical data. They were divided into groups, according to the findings found in the available stones, dividing into calcium oxalate in its entirety, calcium mixed with another compound and the last group of non-calcium stone. Results: 54 patients with nephrolithiasis were identified, 14 of them were excluded. Finally, 40 patients met the inclusion criteria. Median age was 52.5 years, male predominance (55%), hyperuricemia was found in 20.5%, hypercalcemia in 17.6%, hyperphosphatemia in 5% and hyperkalemia in 7.5%. In urine, hypocitraturia was found in 71.1%, followed by hypercalciuria (12.5%), hyperuricosuria (10%), and hyperoxaluria (5%). In 17 patients (42.5%) there was a result of the physicochemical composition of the stone, in them the mixed calcium variety was the most frequent (55.5%). Conclusions: This study describes the characteristics of patients with kidney stones, showing that the majority have metabolic alterations associated with nephrolithiasis, hypocitraturia being the most frequent finding, and that most stones have calcium in their composition.

Intracranial compliance in type 2 diabetes mellitus and its relationship with the cardiovascular autonomic nervous control

The intracranial compliance in type 2 diabetes mellitus (T2DM) patients and the association with cardiovascular autonomic control have not been fully elucidated. The aim of this study was to assess intracranial compliance using the noninvasive intracranial pressure (niICP) and the monitoring of waveform peaks (P1, P2, and P3) and the relationship with cardiovascular autonomic control in T2DM patients. Thirty-two men aged 40-60 years without cardiovascular autonomic neuropathy (CAN) were studied: T2DMG (n=16) and control group CG (n=16). The niICP was evaluated by a noninvasive extracranial sensor placed on the scalp. Cardiovascular autonomic control was evaluated by indices of the baroreflex sensitivity (BRS), from temporal series of R-R intervals of electrocardiogram and systolic arterial pressure, during supine and orthostatic positions. The participants remained in the supine position for 15 min and then 15 min more in orthostatism. T2DMG presented a decrease of the P2/P1 ratio during the orthostatic position (P<0.001). There was a negative moderate correlation between the P2 peak with cardiovascular coupling (K2HP-SAPLF) in supine (r=-0.612, P=0.011) and orthostatic (r=-0.568, P=0.020) positions in T2DMG. We concluded that T2DM patients without CAN and cardiovascular complications presented intracranial compliance similar to healthy subjects. Despite preserved intracranial adjustments, T2DM patients had a response of greater magnitude in orthostatism. In addition, the decoupling between the heart period and blood pressure signal oscillations in low frequency appeared to be related to the worsening of intracranial compliance due to the increased P2 peak.

Current Status and Prospects of Screening for Newborn Hereditary Metaboolic Disease / 罕见病研究

Newborn screening is an effective measure for early detection and early treatment of rare genetic diseases. Among the three-level preventive measures to reduce birth defects, newborn screening has a significant preventive effect, and continues to develop with the advancement of new therapies and new technologies. Newborn screening is also relatively more reliable to obtain data on the prevalence of rare diseases. This article introduces the history and current status of neonatal screening for newborn hereditary metabolic disease in China, presents the disease spectrum and prevalence of 7 819 662 cases of neonatal screening by tandem mass spectrometry, and proposes 12 rare diseases as the primary targeting diseases for newborn screening by tandem mass spectrometry in China. At last, the article raises and discusses the issues of requirement for technology development and ethics of newborn screening.

Quality evaluation of tandem mass spectrometry screening for neonatalinherited metabolic diseases in Zhejiang Province from 2009 to 2021 / 预防医学

Objective@#To evaluate the quality of tandem mass spectrometry (MSMS) screening for neonatal inherited metabolic diseases in Zhejiang Province from 2009 to 2021.@*Methods@#The data pertaining to MSMS screening for neonatal inherited metabolic diseases in Zhejiang Province from 2009 to 2021 were collected from the database created by Zhejiang Provincial Center for Neonatal Disease Screening. The percentage of MSMS screening, percentage of recall of suspected screening-positive infants and incidence of neonatal inherited metabolic diseases were analyzed retrospectively to evaluate the quality of MSMS screening for inherited metabolic diseases.@*Results@#A total of 4 706 916 newborns were screened among 8 297 039 live births by MSMS in Zhejiang Province from 2009 to 2021, and the percentage of MSMS screening increased from 5.48% to 97.54%, with a mean percentage of 56.73%. Of 46 838 suspected screening-positive infants, 45 527 infants were recalled, and the percentage of recall increased from 94.57% to 98.62%, with a mean percentage of 97.20%. A total of 1 038 infants were definitively diagnosed with inherited metabolic diseases in Zhejiang Province from 2009 to 2021, with an overall incidence rate of 1/4 535, and the incidence rates of amino acid metabolic disorder, fatty acid oxidation metabolic disorder and organic acid metabolic disorder were 1/11 767, 1/13 763 and 1\15 902, respectively. Of the 11 cities in Zhejiang Province, the highest percentage of tandem mass spectrometry screening for inherited metabolic diseases was found in Hangzhou City (83.01%), and the highest percentage of recall of suspected screening-positive infants was se en in Zhoushan City (99.08%). @*Conclusions@#A high percentage of MSMS screening for neonatal inherited metabolic diseases was observed in Zhejiang Province from 2009 to 2021; however, there was a region-specific percentage of screening, and the recall of suspected screening-positive infants remains to be improved.

Genotypes of neonatal inherited metabolic diseases in Zhejiang Provincefrom 2009 to 2021 / 预防医学

Objective@#To investigate the genotypes and prognosis of infants with definitive diagnosis of inherited metabolic diseases during neonatal screening in Zhejiang Province from 2009 to 2021, so as to provide insights into the management of birth defects.@*Methods@#The medical records of infants with definitive diagnosis of inherited metabolic diseases by tandem mass spectrometry during neonatal screening in Zhejiang Province from 2009 to 2021 were collected from the database created by Zhejiang Provincial Center for Neonatal Disease Screening. The prevalence, genotypes and prognosis of inherited metabolic diseases were analyzed. @*Results@#A total of 1 038 infants were definitively diagnosed with inherited metabolic diseases in Zhejiang Province from 2009 to 2021, with an overall incidence rate of 1/4 535. There were 400 infants with amino acid metabolic disorders (AAD), 342 infants with fatty acid oxidation metabolic disorders and 296 infants with organic acid metabolic disorders (OAD), with incidence of 1/11 767, 1/13 763 and 1\15 902, respectively. There were 32 types of diseases, including 13 types of AAD, 8 types of FAOD and 11 types of OAD identified, and phenylketonuria and tetrahydrobiopterin deficiency (PKU/BH4D), primary carnitine deficiency (PCD) and methylmalonic academia (MMA) were detected as the most common forms of AAD, FAOD and OAD, with incidence of 1/20 827, 1/24 262 and 1\49 030, respectively. A total of 789 infants received genetic testing (76.01%), and genetic testing was performed among 70.00% of infants with AAD, 83.04% of infants with FAOD and 76.01% of infants with OAD. The c.728G >A (p.R243Q) variant was the most common mutation in infants with PKU (29.17%), c.1400C>G (p.S467C) variant was the most common mutation in infants with PCD (33.46%), c.609G>A (p.W203X) variant was the most common mutation in infants with combined MMA (40.00%), and c.1663G>A (p.A555T) variant was the most common mutation in infants with MMA (17.86%). Among the 997 infants (96.05%) with successful follow-up, 973 infants (93.74%) had normal intelligence and physical developments, and 41 infants died (3.95%), including 9 deaths due to AAD, 15 deaths due to FAOD and 17 deaths due to OAD. @*Conclusions @#The incidence of PKU, PCD and MMA was high among infants with inherited metabolic diseases in Zhejiang Province from 2009 to 2021, with c.728G>A (p.R243Q), c.1400C>G (p.S467C) and c.609G>A (p.W203X) variants as common gene mutations, respectively. Most infants with inherited metabolic diseases had a favorable prognosis; however, the mortality of OAD was relatively high.

2021 annual meeting of the European Association for the Study of Diabetes: advances in the research of diabetes mellitus and metabolic diseases / 中华内分泌代谢杂志

The 57 th Annual Scientific Meeting of the European Association for the Study of Diabetes (EASD) was held online from 27 September to 1 October 2021. This meeting released the latest research findings of diabetes epidemiology, genetics and immunology, diabetic complications, obesity, fatty liver, heart failure, and diabetes treatment. This paper reviewed the academic progress and research hot points in diabetes mellitus and metabolic diseases.

Dietary therapy for inherited metabolic diseases / 中华实用儿科临床杂志

The developments of mass spectrometry and gene detection technology and the introduction of newborn screening have led to an expanding population of patients with inherited metabolic diseases.Therapies of inherited metabolic diseases have attracted much attention.The basic principles of management in these diseases are to limite the consumption of nutrients that produce toxic products, supplement deficient substances, and increase excretion of toxic metabolites.Dietary therapy is one of the major treatments for many inherited metabolic disorders, with the starting point of limiting the intake of substrates for metabolic disorders and supplementing products of insufficient synthesis or alternative energy sources to bypass the defective pathway in order to maintain normal growth and development.With more and more special medical formula nutritional foods being put into production and use, dietary therapy become accessible and compliant.With the effective dietary therapy, many patients get clinical symptom controlled, and their quality of life has been improved.This article mainly elaborates the common inherited metabolic diseases dietary therapy.

Investigation on the prevalence of metabolic diseases among residentsin Moyu County / 预防医学

Objective@#To investigate the prevalence of metabolic diseases among residents in Moyu County, Hotan Prefecture, Xinjiang Uygur Autonomous Region, so as to provide the evidence for developing the control strategy for metabolic diseases.@*Methods@#The demographic features, laboratory examinations and B-mode ultrasonographic examinations of the liver and gall bladder were collected from residents at ages of 18 years and older in Moyu County through the hospital-based medical records system. The prevalence of metabolic diseases was estimated, including obesity, hypertension, diabetes, dyslipidemia and fatty liver, and the factors affecting the development of metabolic diseases were identified using a multinomial logistic regression model.@*Results@#Totally 281 803 residents were included in the study, including 129 549 men ( 49.97% ) and 152 254 women ( 54.03% ) and with a median age of 37.00 years ( interquartile range, 22.00 years ). The overall prevalence of metabolic diseases was 47.66%, and the prevalence rates of obesity, hypertension, dyslipidemia, fatty liver and diabetes were 25.72%, 24.77%, 12.30%, 12.05% and 5.49%, respectively, which appeared a tendency towards a rise with age ( χ2trend = 11 243.73, 14 086.41, 2 109.70, 6 631.22, and 2 011.15, all P<0.001 ). There were 73 811 residents suffering from one metabolic disease (26.19%), and 60 495 residents with two and more metabolic diseases ( 21.47% ). Multinomial logistic regression analysis showed that gender ( OR=0.870; 0.796 ), age ( OR: 1.703-8.701; 2.952-18.846 ), marital status ( OR: 1.397-1.845; 1.460-2.377 ) educational level ( OR: 0.891-0.937; 0.920-0.924 ), occupation ( OR: 1.177-1.270; 1.114-2.099), family history ( OR=1.136; 1.390), drinking frequency ( OR: 2.038; 1.395-2.574 ) and central obesity ( OR=3.448; 14.352 ) were factors affecting the development of one or more metabolic diseases.@*Conclusion@#The prevalence of metabolic diseases is high among residents in Moyu County. Men, the elderly, a low education level and unhealthy lifestyles may increase the risk of metabolic diseases.