Effects of PM2.5 and heat/cold exposure on AKT/GLUT4 pathway in mouse skeletal muscle and white adipose tissue / 环境与职业医学

Background It is unclear if there is any combined effect of air pollutants and non-optimal temperature on metabolic syndrome, or any molecular mechanisms of related signaling pathways in the process, which requires urgent systematic research. Objective To observe the effects of combined exposure to PM2.5 and non-optimal temperature on metabolic damage at gene and protein levels in mice, and elucidate the role of related signaling pathway in crucial organs. Methods A total of 60 six-week-old male C57BL/6J mice were randomly divided into six groups: a normal temperature-filter air group (TN-FA), a normal temperature-concentrated PM2.5 group (TN-PM), a heat-filter air group (TH-FA), a heat-concentrated PM2.5 group (TH-PM), a cold-filter air group (TC-FA), and a cold-concentrated PM2.5 group (TC-PM). The Shanghai Meteorological and Environmental Animal Exposure System (Shanghai-METAS) was used to provide combined exposure settings of air types [concentrated PM2.5 and filter air (FA)] and temperatures [normal (22°C), cold (4°C), and heat (30°C)] for 4 weeks. Skeletal muscle and white adipose tissue (WAT) of the mice were sampled at the end of exposure, and transcriptomics and Western blot (WB) assay were adopted to observe selected gene and protein expression levels in the samples respectively. Results The transcriptomics results indicated that the PM2.5 exposure enhanced the number of differentially expressed genes. Specifically, 4820 genes were differentially expressed in the TN-PM mice compared to the TN-FA mice at normal temperature, and 1143 genes were differentially expressed in the Tc-PM mice compared to the Tc-FA mice in the cold environment. The phosphatidylinositol 3-kinase/protein kinase B (PI3K/AKT) signaling pathway and the endoplasmic reticulum protein processing pathway were identified as the most significant pathways in metabolic injury resulting from combined exposure to PM2.5 and non-optimal temperature exposure. The WB results showed that exposure to PM2.5 in the normal temperature and the cold environments led to a significant increase in the expression of p-AKT in WAT (P<0.01, P<0.05) and a significant decrease in the expression of GLUT4 (P<0.05, P<0.01). In skeletal muscle, exposure to PM2.5 led to a significant decrease in GLUT4 (P<0.05) in all environments, with a consistent trend of change as observed in WAT. Conclusion Cold/heat exposure might promote PM2.5-induced metabolic disorder through suppression of the AKT/GLUT4 pathway, aggravating metabolic damage.

Analysis of the pre-metabolic disease state based on the theory of "overflow of Wu Qi" / 国际中医中药杂志

The pre-metabolic disease state is the body state of substance metabolism disorder that has not yet reached the physical and chemical indicators of the disease, and abnormal glucose metabolism is often the key link of metabolic disorder. In TCM, the healthy function of the spleen is the cornerstone of the production and distribution of fine substances. This article discussed the pre-metabolic disease state based on the theory of "overflow of Five Qi" in the Nei Jing, taking the loss of spleen preparedness as the starting point, in order to provide new ideas and directions for the prevention and treatment of clinical metabolic diseases.

Research progress in ceruloplasmin regulation of lipid metabolism homeostasis / 上海交通大学学报（医学版）

Ceruloplasmin(Cp)is a crucial protein secreted by the liver and plays a vital role in regulating the distribution and transport of copper throughout the body,thereby maintaining copper homeostasis.Additionally,Cp functions as a significant enzyme known as ferroxidase,which is involved in iron metabolism within the body.Numerous studies have suggested a close relationship between Cp and metabolic disorders,such as diabetes and cardiovascular diseases.Recent research has also shed light on the involvement of Cp in the regulation of lipid metabolism.The various activities associated with lipid metabolism,including lipid synthesis,adipose hydrolysis,fatty acid oxidation,lipid transport,and absorption,collectively contribute to maintaining lipid homeostasis.Dysregulation of lipid metabolism can lead to metabolic disorders and cardiovascular complications.Cp regulates lipid metabolism through two main mechanisms.Firstly,Cp participates in the regulation of oxidative stress by modulating iron metabolism through its ferroxidase activity and involvement in redox reaction.Secondly,copper along with copper-dependent enzymes directly participates in the processes such as cholesterol metabolism,lipoprotein metabolism,and fatty acid synthesis.As a result,the role of Cp in maintaining the homeostasis of copper and iron allows it to regulate lipid metabolism by influencing copper or iron-dependent enzymes and related pathways.Although the correlation between Cp and lipid metabolism has been identified,an in-depth exploration of the precise mechanisms by which Cp governs lipid metabolism is warranted.This article provides an overview of the role of Cp in lipid metabolism and highlights the progress in related research,with the aim of providing new insights for the development and treatment of disorders related to lipid metabolism.

Association between body mass index and chronic metabolic diseases in Chinese aged population / 上海交通大学学报（医学版）

Objective·To evaluate the relationship between body mass index(BMI)and chronic metabolic diseases.Methods·The elderly(≥60 years old)who were underwent physical examination in the Physical Examination Center of Renji Hospital,Shanghai Jiao Tong University School of Medicine from 2014 to 2021 were studied.Their results of biochemical indicators were collected.Their height,body weight,and blood pressure were measured by trained nurses.The history of chronic metabolic diseases was collected by self-reported questionnaire.Systolic blood pressure≥140 mmHg(1 mmHg=0.133 kPa),diastolic blood pressure≥90 mmHg,or self-reported hypertension history was defined as hypertension.Fasting blood glucose≥7.0 mmol/L or self-reported history of diabetes was defined as diabetes.Total cholesterol≥6.2 mmol/L,triglyceride≥2.3 mmol/L,or self-reported history of dyslipidemia was defined as dyslipidemia.The relationship between BMI and hypertension,diabetes,and dyslipidemia was evaluated by using receiver operator characteristic(ROC)curve analysis and binary logistic regression.Results·Data of 59 083 subjects were collected[30 807 men and 28 276 women,average age:(67.9±6.3)years old].The prevalence of hypertension,diabetes and dyslipidemia was 76.5%(45 219/59 083),24.1%(14 225/59 083)and 50.0%(29 544/59 083),respectively.Compared to the elderly people aged 60?74 years,those aged 75 years and above had a higher proportion of hypertension and diabetes,and a lower proportion of dyslipidemia and no metabolic abnormalities.With ROC analysis,the BMI cut-off values for hypertension,diabetes,and dyslipidemia were 24.3,23.9,and 23.9 kg/m2.The BMI cut-off values for hypertension and diabetes in elderly men were similar to those in elderly women(for hypertension:24.3 kg/m2 in elderly men vs 24.2 kg/m2 in elderly women;for diabetes:24.0 kg/m2 in elderly men vs 23.7 kg/m2 in elderly women);however,BMI cut-off value for dyslipidemia was obviously higher in elderly men than that in elderly women(24.0 kg/m2 in elderly men vs 22.5 kg/m2 in elderly women).The BMI cut-off value for chronic metabolic diseases was higher in the elderly people aged 60?74 years than that in the elderly people aged 75 years and above(24.2?24.7 kg/m2 vs 22.9?23.8 kg/m2).Conclusion·Elderly people aged 60?74 years should maintain the BMI below 24.0 kg/m2,while those aged 75 years and above should aim for the BMI below 23.0 kg/m2,so as to reduce the risk of chronic metabolic diseases.

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.

Growth Differentiation Factor 5 and Metabolic Diseases / 生物化学与生物物理进展

Growth/differentiation factor-5 (GDF-5) belongs to transforming growth factor-β (TGF-β) family, which is expressed in bone, cartilage, heart, brain, kidney, skeletal muscle and tendon, liver, fat and other organs and tissues as well. GDF-5 binds to receptor BMPR-I/BMPR-II and activates different signaling pathways such as smad1/5/8, PI3K/Akt, p38-MAPK. For a long time, numerous studies have shown that GDF-5 plays an important role in protecting joints. However, researchers have found GDF-5 also plays significant biological functions in other organs. For example, GDF-5 improves cardiac function by reducing oxidative stress and fibrosis in infarcted hearts. GDF-5 can also reduce oxidative stress in the brain and increase the number of neurons in effort to delay the progression of Alzheimer’s disease and Parkinson’s disease. It is a situation, research on GDF-5, at present, mainly focuses on the growth and repair of bone, cartilage and tendons, while there are few reports on its biological effects in other organs. Therefore, this article reviews and summarizes the research progress on GDF-5 and metabolic diseases in recent years in order to provide new insights and theoretical basis for the role of GDF-5 in improving metabolic diseases.

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.

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.

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.

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.

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.

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.

A new definition of fatty liver disease: from nonalcoholic fatty liver disease to metabolic asso-ciated fatty liver disease / 中华消化外科杂志

In recent years, there has been increasing evidence that nonalcoholic fatty liver disease (NAFLD) is a manifestation of a systemic metabolic disease in liver. However, limitations in the definition and diagnostic criteria of NAFLD could not fully and accurately describe the metabolic disorder. A consensus statement proposed renaming NAFLD to metabolic associated fatty liver disease (MAFLD). Compared with NAFLD, MAFLD links fatty liver disease with metabolic factors such as overweight or obesity and diabetes, and the diagnosis of the disease no longer excludes the presence of metabolic abnormalities in patients with alcohol consumption or other chronic liver diseases. The authors focus on definition changes of fatty liver disease, discuss the epidemiological changes from NAFLD to MAFLD and the relationship of MAFLD with liver fibrosis and extrahepatic diseases, and also the significance of MAFLD for public health.

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.

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.

Diabetes mellitus: los orígenes de un no tan dulce término / Diabetes mellitus: the origins of a not so sweet term

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.

Recent research on inherited metabolic diseases in children / 中国当代儿科杂志

With the improvement in the research level and the diagnosis and treatment technology of inherited metabolic diseases (IMD), the research on pediatric IMD in China has made great progress, but there is still some distance from the international level. Due to the vast territory of China and the uneven distribution of medical resources, the regional characteristics of IMD remain unclear in China, and there are many problems and difficulties in early diagnosis and treatment. Therefore, it is necessary to improve the understanding of pediatric IMD among pediatricians, so as to improve the diagnosis and treatment level, achieve an early identification, diagnosis, and treatment of pediatric IMD, and effectively reduce the fatality and disability rates of children with IMD. This article reviews the research progress of IMD in children in China, and analyzes the features of representative IMDs. Citation:Chinese Journal of Contemporary Pediatrics, 2022, 24(3): 326-331.