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Diabetes is a complex and rapidly growing disease with heterogeneous clinical presentations. Recent advances in molecular and genetic technologies have led to the identification of various subtypes of diabetes. These advancements offer the potential for a more precise, individualized approach to treatment, known as precision medicine. Recognizing high-risk phenotypes and intervening early and intensively is crucial. A staging system for type 1 diabetes has been proposed and accepted globally. In this article, we will explore the different methods for categorizing and classifying type 2 diabetes (T2D) based on clinical characteristics, progression patterns, risk of complications, and the use of molecular techniques for patient grouping. We, as a team of experts, will also present an easy-to-follow treatment plan and guidance for non-specialists, particularly primary care physicians, that integrates the classification and staging of diabetes. This will help ensure that the most suitable therapy is applied to the different types of T2D at each stage of the disease's progression.

The Bosma syndrome (BAMS: Bosma arhinia microphthalmia syndrome) is a condition first described in 1972. Since then, several reviews have published the cases looking for diagnostic criteria and associated genetic alterations. The mutation in the SMCHD1 gene (Structural Maintenance of Chromosomes flexible Hinge Domain containing protein 1) seems to explain a part of the development of the phenotype. Not all cases show the same alterations or meet the classic diagnostic criteria, and few have undergone genetic analysis. We present a case with a new variant in this gene and an update of the literature on this syndrome with the aim of improving the diagnosis and follow-up of these patients., (Copyright © 2024 SEEN and SED. Published by Elsevier España, S.L.U. All rights reserved.)

Introduction: Thyroid nodules (TN) are a prevalent pathology that can generate morbidity, in which case the traditional treatment is usually surgery., Objective: To analyse the efficacy of radiofrequency ablation (RFA) treatment as a therapeutic alternative in the combined clinical, morphological, and functional control of predominantly solid, benign and clinically relevant TNs in patients not subsidiary to surgery., Materials and Methods: A descriptive, retrospective, case series study was carried out to assess the efficacy and safety of the use of RFA. According to medical criteria, the selected patients underwent a clinical, ultrasound, and biochemical assessment prior to the procedure and then after the procedure at 1, 3, 6, and 12 months and then every 6-12 months according to medical criteria., Results: A total of 100 RFA were performed on 83 patients with 85 TNs of ≥2.5 cm with an initial volume (IV) of 21.48 ± 15.89 ml. After a mean of 1.17 RFA sessions per TN, the volume decreased progressively and significantly (p < 0.01 for all times compared to the initial value), with a mean volume reduction rate (VRR) in relation to the IV of 54.43 ± 19.56% at 1-month follow-up; 67.69 ± 17% at 3 months; 70.38 ± 15.46% at 6 months; 70.67 ± 17.27% at 12 months and 70.24 ± 17.7% at the last follow-up. 88% of the patients followed up >6 months achieved the combined objective of a volume reduction rate of more than 50% of the VI, thyroid normal function and absence of clinic; and in all of these, it was maintained until the final follow-up date. Acute complications (mostly mild and all transient) were reported in 9 of the 100 RFA performed., Conclusion: Our findings validate in our setting the efficacy and safety of RFA in predominantly large and solid TNs, and add undescribed information to position the technique more favourably as a therapeutic alternative., (Copyright © 2022 SEEN and SED. Published by Elsevier España, S.L.U. All rights reserved.)

The management of type 2 diabetes (T2D) involves decreasing plasma glucose levels and reducing cardiovascular and microvascular complications. Diabetic kidney disease (DKD), defined as presence of albuminuria, impaired glomerular filtration, or both, is an insidious microvascular complication of diabetes that generates a substantial personal and clinical burden. The progressive reduction in renal function and increased albuminuria results in an increase of cardiovascular events. Thus, patients with DKD require exhaustive control of the associated cardiovascular risk factors. People with diabetes and renal impairment have fewer options of antidiabetic drugs because of contraindications, adverse effects, or altered pharmacokinetics. Sodium-glucose cotransporter type 2 inhibitors (SGLT2i) reduce blood glucose concentrations by blocking the uptake of sodium and glucose in the proximal tubule and promoting glycosuria, and these agents now have an important role in the management of T2D. The results of several cardiovascular outcomes trials suggested that SGLT2i are associated with improvements in renal endpoints in addition to their reduction in cardiovascular events and mortality, which represents a major advance in the care of this population. The dedicated kidney outcomes trials have confirmed the renoprotective action of SGLT2i across different glomerular filtration and albuminuria values, even in patients with non-diabetic chronic kidney disease. Notably, this improvement in kidney function may indirectly benefit cardiac function through multifaceted interorgan cross talk, which can break the cardiorenal vicious circle linked to T2D. In this article, we briefly review the different mechanisms of action that may explain the renal beneficial effects of SGLT2i and disclose the results of the key renal outcome trials and the subsequent update of related clinical guidelines., (© 2022. The Author(s).)

Background: Inferior petrosal sinus sampling (IPSS) is indicated in the diagnosis of adrenocorticotropic hormone (ACTH)-dependent Cushing's syndrome (CS), especially when the results of the initial diagnostic tests are discordant., Objective: To describe the patients who underwent this invasive functional test in a tertiary hospital., Methods: This was an observational study of a retrospective cohort of patients with ACTH-dependent CS and IPSS between 2004 and 2019. We determined their epidemiological, hormonal, radiological and functional characteristics, and evaluated their diagnostic capacity and optimal cut-off points to differentiate between Cushing's disease (CD) and ectopic Cushing's syndrome (ECS)., Results: 23 patients were evaluated, of which 65.2% were women with the average age of 42 (36-62) years. ACTH secretion of pituitary origin was evident in 82.6% of the patients and of ectopic origin in 17.4%. Plasma cortisol, urinary free cortisol, and ACTH levels were higher in patients with ECS. Regarding IPSS, the baseline central/peripheral ACTH gradient detected 89.5% of patients with CD and after stimulation with CRH, 100%. The optimal cut-off points in the diagnosis of CD were 2.06 at baseline and 2.49 after CRH stimulation., Conclusion: IPSS with CRH stimulation is a test with a high diagnostic accuracy for correctly classifying patients with CD and ECS. The cut-off points of the gradients may be different from the classic ones. Therefore, we recommend that each center perform its own evaluation., (Copyright © 2021 SEEN and SED. Published by Elsevier España, S.L.U. All rights reserved.)

Introduction: To determine the level of acceptance of the message of individualised management of type 2 diabetes mellitus among Spanish Primary Care (PC) physicians, and to evaluate the factors that may interfere with its implementation in clinical practice., Material and Methods: National study in the field of PC, exploratory, and following a two-round modified Delphi method. Evaluation by a homogeneous panel of 152 physicians using a 27-items questionnaire divided into 6 thematic areas., Results: Overall, consensus was achieved in 19 (70.4%) of the 27 items, 12 in agreement (44.4%), and 7 in disagreement (25.9%). There was no consensus in 8 (29.6%) of the items., Conclusions: Although there are certain aspects indicating the good acceptance of the message of diabetes management based on the individual patient profile, such as in the establishment of targets or the selection of antidiabetic drugs, the message has not been assimilated by all Spanish PC physicians. Further studies, involving a large number of physicians, are required to corroborate these results, and identify more factors that may be interfering with the implementation in clinical practice., (Copyright © 2016 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España, S.L.U. All rights reserved.)

The diabetes mellitus is a group of metabolic diseases whose common link is hyperglycemia secondary to a deficit of insulin secretion, the defect of metabolic activity or both, causing micro and / or macrovascular chronic complications. Its prevalence is 13.6% and the direct costs of 2,500 million euros annually. Proper management of diabetes in hypertensive patients includes reaching a comprehensive control of all cardiovascular risk factors present. Objectives should be individualized depending on various factors such as age, duration of diabetes, presence or absence of complications and frequency of hypoglycemia, the capacity of each patient based on their cognitive status, support socio-family and Life expectancy. © 2017 SEHLELHA. Published by Elsevier España, S.L.U. All rights reserved., (Copyright © 2017 Sociedad Española de Hipertension-Liga Española para la Lucha de la Hipertensión Arterial (SEH-LELHA). Publicado por Elsevier España, S.L.U. All rights reserved.)

Background: Nutritional status is a prognostic factor in cystic fibrosis. Prevention of nutritional impairment and weigh loss are major clinical objectives because they are associated with worsening of lung function and increased mortality., Objective: To identify a potential relationship of clinical nutrition parameters, and their relative changes, with lung function (FEV1%) in a cohort of adolescent and adult patients with CF., Methods: A retrospective analysis of 64 patients older than 14years. Weight, height, BMI, and lung function data were collected at a period of disease stability, both in the year of the first abnormal oral glucose tolerance test (OGTT) and in the previous year. Relative changes in weight and BMI, and their relationship with FEV1%, were determined by linear regression and ANOVA tests; influence of gender and diabetes was also assessed., Results: Mean age of the series (28 females and 36 males) was 26.8years. Normal glucose tolerance (NGT) was found in 26.7%, while 18.3% had diabetes without impaired fasting glucose (CFRD without FPG). Mean BMI was 20.32, with a mean weight of 53.53kg; 32.8% had BMI<18.5, and only 4.7% were overweight. Overall, a positive relative change in weight (≥6%) was associated with an increase in FEV1% (9.31%), as compared to those with a greater weight loss (at least 2%), who had a 12.09% fall in FEV1. Patients with CFRD without FPG had poorer lung function if they had a negative relative change in weight by at least 2% as compared to NGT., Conclusions: In patients with CF, a relative weight gain is positively associated to FEV1%, while a relative weight loss of at least 2% has a significant negative impact on lung function., (Copyright © 2015 SEEN. Published by Elsevier España, S.L.U. All rights reserved.)

Aim: To assess the clinical features, length of stay, incidence rate, mortality, and hospital admissions of patients with episodes of diabetic ketoacidosis (DKA)., Patients: It was conducted retrospective, cross-sectional study of 164 consecutive admissions of adult patients (2008-August 2012), with type 1 or type 2 diabetes already known or new onset., Results: Mortality rate was 1.2%. The DKA episodes were mild (18.9%), moderate (31.7%), or severe (49.4%). The cumulative incidence was 2.66 cases/1000 patients with diabetes (DM) in 4.5 years. The most common causes triggering DKA were infection (33.2%) and dietary transgression and/or insulin dose omission (30.7%). A total of 12.8% of patients had new onset DM, 56.7% type 1, and 26.8% type 2 DM. Patients with type 2 DM were older and had at admission higher creatinine, BUN, osmolality, sodium, and anion gap levels. Patients with new-onset of DM had higher levels of glucose and sodium, but lower potassium levels. No differences were found in pH or bicarbonate. Admission to the intensive care unit (ICU) was required in >50% of cases (p<0.001), and 86.6% of patients were finally admitted to a medical ward (p=0.005). The length of stay at the ICU (p<0.001) and hospital (p=0.013) was significantly different depending on DKA severity., Conclusions: Most DKA episodes require hospital admission, but mortality is <2%, and length of stay at the ER and medical ward depends on type of DM and initial severity of the episode., (Copyright © 2014 SEEN. Published by Elsevier España, S.L.U. All rights reserved.)

Objective: To analyze the available information about continuous subcutaneous insulin infusion (CSII) and continuous glucose monitoring (CGM) systems in the public health care system of the Community of Madrid., Material and Methods: A survey consisting of 31 items was sent to the 28 endocrinology department of the Madrid public hospitals. Items focused on CSII and CGM and included patients' registrations, as well as data regarding healthcare, administrative, and logistic aspects. Responses from a total of 20 hospitals where these procedures are used were received from March 2013 to May 2014. Data about pediatric patients were obtained from adult endocrinology departments, except for two hospitals which directly reported the information., Results: A total of 1256 CSII pumps were recorded in the Madrid region, of which 1089 were used by adults, and the remaining 167 by pediatric patients. During 2013, 151 new CSII systems were implanted (12% of the total), while 14 pumps were withdrawn. Availability of human resources (medical assistance) and the number of staff practitioners experienced in management of these systems widely varied between hospitals. Eighty-five percent of hospitals used retrospective CGM systems, and 40% routinely placed them before starting an insulin pump. Thirteen hospitals (65%) used long-term, real-time CGM systems in selected cases (a total of 67 patients)., Conclusions: Use of these technologies in diabetes is unequal between public health care hospitals in Madrid, and is still significantly lower as compared to other countries with similar incomes. However, there appears to be a trend to an increase in their use., (Copyright © 2014 SEEN. Published by Elsevier España, S.L.U. All rights reserved.)