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Klinefelter syndrome: a case report 克氏综合征1例报告
Pub Date : 2023-05-10 DOI: 10.15829/2713-0177-2023-9
A. Arefyeva, A. Volkova, A. Lisker, E. N. Ostroukhova, T. A. Kholudeeva
Klinefelter syndrome (KS) is a genetic disease associated with the presence of an extra X-chromosome in the karyotype of men. The most common karyotype is 47XXY, however, other genetic variants are also possible, as well as mosaic forms.The clinical picture is most often represented by bilateral gynecomastia, decreased in the volume testicles and infertility (azoospermia). Laboratory revealed hypergonadotropic hypogonadism. Testosterone replacement therapy is used to ensure virilization and the proper quality of life. Assisted reproductive technologies with preliminary hormonal preparation are used to restore fertility.This article presents a clinical case of KS and considers options for realization of reproductive plans in the case of non-obstructive azoospermia.
Klinefelter综合征(KS)是一种与男性核型中额外x染色体存在相关的遗传性疾病。最常见的核型是47XXY,然而,其他遗传变异也有可能,以及镶嵌形式。临床表现为双侧男性乳房发育,睾丸体积减小和不育(无精子症)。实验室显示促性腺功能亢进症。睾酮替代疗法用于确保男性化和适当的生活质量。辅助生殖技术与初步激素准备是用来恢复生育能力。本文介绍了一个临床病例KS和考虑实现生殖计划的选择,在非阻塞性无精子症的情况下。
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引用次数: 0
Difficulties in diagnosing primary hyperaldosteronism 原发性高醛固酮增多症的诊断困难
Pub Date : 2023-05-10 DOI: 10.15829/1560-4071-2023-12
T. Demidova, V. V. Titova
Primary hyperaldosteronism (PA) is a disorder with excessive secretion of aldosterone, uncontrolled of regulation of the renin-angiotensin system. Excess secretion of aldosterone leads to the development of hypertension, hypokalemia and specific damage to the cardiovascular system and kidneys. The prevalence of PA was previously underestimated, but at the moment, according to studies, it is the most common cause of secondary arterial hypertension. The most common causes of PA are adrenal adenoma and adrenal hyperplasia. The importance of timely diagnosis of PA lies not only in solving the problem of high blood pressure, but because of the extremely adverse effect of excess aldosterone on the cardiovascular system and kidneys, which can even lead to death. The aldosterone-to-renin ratio (ARR) has long been a selective test for PA screening, but the complexity of its interpretation, the lack of clear cut-off level, and the confusion of measurement units make it difficult to evaluate, which has led some researchers to look for new ways for PA screening. The distinction between idiopathic adrenal hyperplasia (IAH) and aldosterone-producing adenoma (APA) is important for choosing the appropriate treatment. Therefore, imaging exams such as computed tomography and invasive studies such as adrenal catheterization are required to identify the PA subtype. Depending on the subtype of PA, it is necessary to use the optimal treatment — surgical for APA or pharmacological for hypertension, using drugs such as mineralocorticoid receptor antagonists.
原发性高醛固酮症(PA)是一种醛固酮分泌过多,肾素-血管紧张素系统调节不受控制的疾病。醛固酮分泌过多导致高血压、低钾血症和对心血管系统和肾脏的特异性损害。PA的患病率以前被低估了,但目前,根据研究,它是继发性动脉高血压的最常见原因。PA最常见的病因是肾上腺腺瘤和肾上腺增生。及时诊断PA的重要性不仅在于解决高血压问题,还在于醛固酮过量会对心血管系统和肾脏产生极其不利的影响,甚至可能导致死亡。醛固酮-肾素比(ARR)一直是PA筛选的一种选择性检测方法,但由于其解释的复杂性、缺乏明确的截止水平以及测量单位的混乱,使得其难以评估,这促使一些研究者寻找PA筛选的新方法。特发性肾上腺增生症(IAH)和醛固酮分泌腺瘤(APA)的区别对于选择合适的治疗方法很重要。因此,需要影像学检查,如计算机断层扫描和侵入性研究,如肾上腺导管插入术,以确定PA亚型。根据PA亚型的不同,有必要采用最佳的治疗方法——手术治疗APA或药物治疗高血压,使用矿物皮质激素受体拮抗剂等药物。
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引用次数: 0
Principles of cardiovascular risk management in perimenopausal women with type 2 diabetes 围绝经期2型糖尿病妇女心血管风险管理原则
Pub Date : 2023-05-10 DOI: 10.15829/1560-4071-2023-22
F. Ushanova, T. Demidova, T. N. Korotkova
Cardiovascular disease is the leading cause of death in patients with diabetes mellitus. It has been established that the period of menopause, associated with an increase in age and a change in the metabolic background, increases the risk of developing cardiovascular diseases in women with diabetes mellitus. Despite tentative expectations, a number of studies have shown conflicting evidence regarding the beneficial effects of menopausal hormone therapy on CV risk markers in diabetes mellitus. In this connection, therapy with hormonal preparations containing estrogen is currently not recommended for the prevention of cardiovascular diseases in the absence of specific indications. At the same time, estrogen therapy can be used in this group to minimize menopausal symptoms. At the same time, the risk of adverse events associated with the use of menopausal hormone therapy can be estimated using calculation methods for determining cardiovascular risk and breast cancer risk using specific calculators, especially in the group of women with type 2 diabetes.The main principles of cardiovascular risk management continue to focus on lifestyle modification and achieving target levels of cardiovascular risk parameters such as lipid levels, glycemia, and blood pressure. The use of pharmacological therapy to address these risk factors, especially some pleiotropic antihyperglycemic drugs, may provide additional options for the prevention of cardiovascular disease.
心血管疾病是糖尿病患者死亡的主要原因。已经确定,绝经期与年龄的增长和代谢背景的变化有关,增加了患有糖尿病的妇女患心血管疾病的风险。尽管有初步的预期,但关于绝经期激素治疗对糖尿病患者心血管危险标志物的有益作用,许多研究显示了相互矛盾的证据。在这方面,在没有具体适应症的情况下,目前不建议使用含有雌激素的激素制剂来预防心血管疾病。同时,雌激素治疗可用于该组,以尽量减少更年期症状。与此同时,与使用更年期激素治疗相关的不良事件的风险可以通过使用特定计算器确定心血管风险和乳腺癌风险的计算方法来估计,特别是在患有2型糖尿病的妇女群体中。心血管风险管理的主要原则仍然集中在改变生活方式和达到心血管风险参数的目标水平,如血脂水平、血糖和血压。使用药物治疗来解决这些危险因素,特别是一些多效性降糖药物,可能为预防心血管疾病提供额外的选择。
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引用次数: 0
Hypercalcemia syndrome: differential diagnostic search and treatment tactics 高钙血症综合征:鉴别诊断、寻找和治疗策略
Pub Date : 2023-05-10 DOI: 10.15829/2713-0177-2023-6
T. Demidova, K. Lobanova, T. N. Korotkova
Hypercalcemia is a common laboratory finding. The most common causes of high blood calcium are primary hyperparathyroidism, tertiary hyperparathyroidism, parathyroid cancer, malignant neoplasms, long-term therapy with lithium and thiazide diuretics, vitamin D intoxication, which require a different approach to treatment. Therefore, it is important for a doctor to be able to conduct a differential diagnostic search for hypercalcemia syndrome in order to establish the cause of high blood calcium and determine the correct tactics for managing patients.
高钙血症是一种常见的实验室发现。高血钙最常见的原因是原发性甲状旁腺功能亢进、三期甲状旁腺功能亢进、甲状旁腺癌、恶性肿瘤、长期使用锂和噻嗪类利尿剂治疗、维生素D中毒,这些都需要不同的治疗方法。因此,对于医生来说,能够对高钙血症综合征进行鉴别诊断,以确定高血钙的原因并确定正确的治疗策略是很重要的。
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引用次数: 0
Glucometry and self-control skills as necessary components in the management of a patient with prediabetes in the outpatient settings 血糖测量和自我控制技能是门诊治疗糖尿病前期患者的必要组成部分
Pub Date : 2023-05-10 DOI: 10.15829/2713-0177-2023-18
V. Larina
The article discusses the modern approaches to a glycemic control among outpatients with prediabetes. The risk factors for prediabetes, the possibilities of its screening, and the issues of treatment non-adherence are discussed. An attention is paid to the aspects of teaching patients the skills of competent self-monitoring of glycemia, and the use of glucometers integrated with smartphones at home. Modern features and advantages of the glucometer for self-control over the disease are discussed.
本文讨论了糖尿病前期门诊患者血糖控制的现代方法。前驱糖尿病的危险因素,其筛选的可能性,以及治疗不依从的问题进行了讨论。注重教给患者自我监测血糖的技能,以及在家中使用与智能手机集成的血糖仪。本文讨论了用于疾病控制的血糖仪的现代特点和优点。
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引用次数: 0
Pathology of carbohydrate metabolism in primary hyperparathyroidism: epidemiological and clinical characteristics 原发性甲状旁腺功能亢进的糖代谢病理:流行病学和临床特征
Pub Date : 2023-05-10 DOI: 10.15829/2713-0177-2023-7
E. Bibik, E. Dobreva, A. Eremkina, N. Mokrysheva
Primary hyperparathyroidism (PHPT) is characterized by disorders of not only mineral metabolism, but also other kinds of the human metabolism. Due to the increased frequency of cardiovascular risk factors among patients with PHPT, the study of the carbohydrate metabolism pathology in this cohort of patients will allow developing optimal approaches to their timely diagnosis and treatment.Aim. To determine the frequency and describe the clinical features of carbohydrate metabolism disorders in patients with PHPT.Material and methods. A single-center retrospective study of adults with PHPT was carried out with an assessment of the main parameters of mineral and carbohydrate metabolism before surgical treatment of the disease. The exclusion criteria were the absence of PHPT remission or a recurrence of the disease after parathyroidectomy; pregnancy, lactation. The frequency of various disorders of carbohydrate metabolism in PHPT, the comparative characteristics of mineral parameters in patients with and without them, as well as the severity of type 2 diabetes mellitus in PHPT were determined. In addition, potential relationships between the parameters of various types of metabolism have been studied.Results. The study was based on a clinical information of 367 patients with PHPT, most of whom had a symptomatic form of the disease. The overall incidence of prediabetic disorders was 4,9% (95% CI: 3-8). Type 2 diabetes mellitus was previously diagnosed in 45 patients (12%, 95% CI: 9-16), there were no cases of first diagnosed diabetes mellitus. Individuals with impaired carbohydrate metabolism had a statistically significantly higher body mass index and lower values of osteocalcin (27,2 [24,2; 30,4] kg/m2 vs 32,7 [28,1; 39,4 kg/m2 and 48,1 [34; 76,3] ng/mL vs 33,1 [20,8; 51,8] ng/mL, respectively, for all parameters p<0,001). Among patients with type 2 diabetes mellitus, 36 people (80%) took hypoglycemic therapy, 14 of which received metformin monotherapy and 8 received two-component therapy, including metformin. 5 people were on insulin therapy. Diabetic nephropathy was diagnosed in 36,4% of patients, 15,4% had signs of diabetic retinopathy, symptoms of diabetic distal neuropathy were observed in 61,9% of patients with PHPT. Fasting glucose and glycated hemoglobin were negatively correlated with bone metabolism, and also expectedly depended on the glomerular filtration rate.Conclusion. Among patients with PHPT, type 2 diabetes mellitus is more common than in the general population. The likely reason of this may be insulin resistance, that can be caused by the effects of bone metabolites, primarily osteocalcin. In most cases, metformin makes it possible to achieve compensation for diabetes mellitus in PHPT.
原发性甲状旁腺功能亢进症(PHPT)不仅以矿物质代谢紊乱为特征,而且以人体其他代谢紊乱为特征。由于PHPT患者中心血管危险因素的频率增加,对这组患者的碳水化合物代谢病理的研究将有助于制定及时诊断和治疗的最佳方法。确定PHPT患者碳水化合物代谢紊乱的发生频率并描述其临床特征。材料和方法。对成人PHPT患者进行了单中心回顾性研究,评估了手术治疗前的矿物质和碳水化合物代谢的主要参数。排除标准为PHPT未缓解或甲状旁腺切除术后疾病复发;怀孕、哺乳。测定PHPT中各种碳水化合物代谢紊乱的发生频率、有和没有这些紊乱的患者矿物质参数的比较特征以及PHPT中2型糖尿病的严重程度。此外,还研究了各种代谢类型参数之间的潜在关系。该研究基于367名PHPT患者的临床信息,其中大多数患者有该病的症状形式。糖尿病前期疾病的总发病率为4.9% (95% CI: 3-8)。45例患者曾被诊断为2型糖尿病(12%,95% CI: 9-16),没有首次诊断为糖尿病的病例。碳水化合物代谢受损的个体体重指数较高,骨钙素值较低(27,2 [24,2;30,4] kg/m2 vs . 32,7 [28,1;39.4 kg/m2和48.1 [34;76,3] ng/mL vs . 33,1 [20,8];51,8] ng/mL,所有参数p< 0.001)。2型糖尿病患者中36例(80%)接受降糖治疗,其中14例接受二甲双胍单药治疗,8例接受包括二甲双胍在内的双组分治疗。5人接受胰岛素治疗。36.4%的患者诊断为糖尿病肾病,15.4%的患者有糖尿病视网膜病变的体征,61.9%的PHPT患者有糖尿病远端神经病变的症状。空腹血糖和糖化血红蛋白与骨代谢呈负相关,并依赖于肾小球滤过率。在PHPT患者中,2型糖尿病比一般人群更常见。可能的原因是胰岛素抵抗,这可能是由骨代谢物,主要是骨钙素的影响引起的。在大多数情况下,二甲双胍可以实现对PHPT患者糖尿病的补偿。
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引用次数: 0
The evolution of body composition assessment: from body mass index to body composition profiling 身体成分评估的演变:从身体质量指数到身体成分分析
Pub Date : 2023-05-10 DOI: 10.15829/1560-4071-2023-13
E. V. Kiseleva, E. Pigarova, N. Mokrysheva
Obesity is currently an important medical and social problem due to the multiple associated conditions that worsen the health of the population. Thus, there is a need for the development of accurate and non-invasive methods of body composition assessment for the purposes of diagnosing and monitoring the treatment of this disease. According to the estimates of the World Obesity Federation, by 2025 the prevalence of this disease will reach 21% in women, and 18% in men. This literature review is dedicated to the subject of various methods for assessing the degree of obesity, as well as determining the composition of the body in the context of historical achievements and a critical assessment of new technologies.
肥胖是目前一个重要的医学和社会问题,由于多种相关条件恶化的人口健康。因此,有必要发展准确和非侵入性的身体成分评估方法,以诊断和监测这种疾病的治疗。根据世界肥胖联合会的估计,到2025年,这种疾病的患病率将在女性中达到21%,在男性中达到18%。这篇文献综述致力于评估肥胖程度的各种方法,以及在历史成就和新技术的关键评估的背景下确定身体成分。
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引用次数: 6
Chronic hypoparathyroidism: clinical manifestations, complications and impact on the quality of life 慢性甲状旁腺功能减退症:临床表现、并发症及对生活质量的影响
Pub Date : 2023-05-10 DOI: 10.15829/2713-0177-2023-27
E. V. Kovaleva, A. K. Eremkina, N. Mokrysheva
Hypoparathyroidism is a relatively rare endocrine disorder caused by the absence production of parathyroid hormone, leading to the classical biochemical features such as hypocalcaemia and hyperphosphataemia.The data from Europe, the USA and Asian countries shows that the long course of chronic postsurgical and non-surgical hypoparathyroidism can lead to many complications from different organs and systems. Hypoparathyroidism increases the risk of kidney disease, including kidney failure, neuropsychiatric disorders and infections. The frequency and degree of disease complications depend on its etiology. Non-surgical hypoparathyroidism is associated with an increased risks of cataracts, cardiovascular diseases and vertebral fractures; however, the pathogenesis of these disorders is not fully understood. Various parameters of mineral homeostasis were discussed in the context of identified complications. For example, persistent hypercalciuria and intake of large doses of calcium and vitamin D supplements were associated with the structural pathology of the kidneys (nephrolithiasis, nephrocalcinosis).This review covers the issue of the clinical manifestations and complications of chronic hypoparathyroidism, as well as predictors of their development.
甲状旁腺功能减退症是一种相对少见的由甲状旁腺激素分泌不足引起的内分泌紊乱,可导致典型的低钙血症、高磷血症等生化特征。来自欧洲、美国和亚洲国家的资料显示,术后和非手术的慢性甲状旁腺功能减退症病程长,可导致许多来自不同器官和系统的并发症。甲状旁腺功能减退会增加肾脏疾病的风险,包括肾衰竭、神经精神疾病和感染。疾病并发症的发生频率和程度取决于其病因。非手术性甲状旁腺功能低下与白内障、心血管疾病和椎体骨折的风险增加有关;然而,这些疾病的发病机制尚不完全清楚。在确定并发症的背景下讨论了矿物质稳态的各种参数。例如,持续的高钙尿症和摄入大剂量的钙和维生素D补充剂与肾脏的结构性病理(肾结石、肾钙质沉着症)有关。本文综述了慢性甲状旁腺功能减退症的临床表现和并发症,以及其发展的预测因素。
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引用次数: 0
Pecularities of treatment of elderly patients with type 2 diabetes mellitus 老年2型糖尿病患者的治疗特点
Pub Date : 2023-05-10 DOI: 10.15829/1560-4071-2023-15
T. Demidova, A. Kochina
The management of diabetes in the elderly requires careful consideration of concomitant geriatric syndromes and chronic diseases that increase the risk of complications, including severe hypoglycemia. An individualized approach to the treatment of elderly patients includes the establishment of less strict goals of glycemic control, blood pressure control, taking into account impaired self-care abilities, cognitive abilities and loss of vision. The goals of diabetes treatment in the elderly are considered to maintain the quality of life and minimize symptomatic hyperglycemia, the risk of hypoglycemia and side effects of medications. In this regard, the concept of deprescribing in the treatment of elderly patients is gaining more and more popularity.
老年人糖尿病的管理需要仔细考虑伴随的老年综合征和慢性疾病,这些疾病会增加并发症的风险,包括严重低血糖。治疗老年患者的个体化方法包括制定不太严格的血糖控制、血压控制目标,同时考虑到自我护理能力受损、认知能力受损和视力丧失。老年人糖尿病治疗的目标被认为是维持生活质量,减少症状性高血糖、低血糖的风险和药物副作用。在这方面,在老年患者的治疗中,处方化的概念越来越受到人们的欢迎。
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引用次数: 0
Vitamin D metabolism in patient with type 1 diabetes, chronic kidney disease, and charcot foot: a case report 1型糖尿病、慢性肾病和沙足患者的维生素D代谢:1例报告
Pub Date : 2023-05-10 DOI: 10.15829/2713-0177-2023-11
M. V. Yaroslavtseva, Y. A. El-Taravi, O. Bondarenko, A. Povaliaeva, E. Pigarova
Patients with multiple complications of diabetes mellitus often have significant deviations in the parameters of calcium-phosphorus and bone metabolism. The multifactorial nature of the pathogenesis of such disorders makes it difficult to manage patients with a long and complicated course of diabetes mellitus. This article describes a clinical case of a patient with a long history of type 1 diabetes mellitus, kidney transplantation as a result of terminal renal failure, and diabetic neuroosteoarthropathy. The features of vitamin D metabolism, the importance of timely diagnosis of phosphorus-calcium disorders and the features of patient therapy are discussed.
糖尿病合并多种并发症的患者,钙磷、骨代谢等指标常有明显偏差。这些疾病的发病机制是多因素的,这给长期和复杂病程的糖尿病患者的治疗带来了困难。本文报告一例长期患有1型糖尿病、终末期肾功能衰竭肾移植和糖尿病性神经骨关节病的临床病例。讨论了维生素D代谢的特点、及时诊断磷钙障碍的重要性以及患者治疗的特点。
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引用次数: 0
期刊
FOCUS. Endocrinology
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