Abstract：
:Urinary stone disease is the only clinical presentation in patients with cystinuria. Two genes have been associated with type I (SLC3A1) and non-type I (SLC7A9) cystinuria and multiple mutations of these genes have been identified. The type I form is completely recessive while the non-type I form is incompletely recessive. Clinically, heterozygotes with type I mutations are silent while heterozygotes with non-type I (types II and III) present with a wide range of urinary cystine levels and some even have symptomatic urolithiasis. Although the exact molecular basis for these differences needs additional investigations, the future of medical management of cystinuria is based on molecular and gene therapy. Minimally invasive surgery using percutaneous and ureteroscopic techniques is the cornerstone of surgical management. Both cystine and struvite calculi can form staghorn configuration with propensity for rapid growth and frequent recurrences after surgical treatment. While urinary alkalinization for cystine calculi is an integral part of medical management, the effect of oral alkalinizing agents is limited because of the high pKa (8.3) of cystine. Chelating agents, therefore, are frequently used to decrease cystine solubility and stone recurrences. Similarly, urinary acidification for struvite calculi may dissolve existing stones and prevent recurrences. However, no effective oral agent is available today. A future challenge will be to introduce reliable oral agents for urinary acidification.
journal_name
Endocrinol Metab Clin North Amjournal_title
Endocrinology and metabolism clinics of North Americaauthors
Shekarriz B,Stoller MLdoi
10.1016/s0889-8529(02)00054-3subject
Has Abstractpub_date
2002-12-01 00:00:00pages
951-77issue
4eissn
0889-8529issn
1558-4410pii
S0889-8529(02)00054-3journal_volume
31pub_type
杂志文章,评审abstract：:Recent advances in the genetics of the family of 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) enzymes have helped in the understanding of the molecular basis and hormonal phenotype of bona fide 3 beta-HSD deficiency congenital adrenal hyperplasia (CAH). This article revisits the clinical spectra of 3 beta-HSD defi...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/s0889-8529(08)70020-3
更新日期：2001-03-01 00:00:00
abstract：:Specific lesions of the growth hormone (GH)/insulin-like growth factor (IGF) axis have been identified in humans, each of which has distinctive auxologic and biochemical features. Measures of circulating IGF-I are useful in diagnosing growth disorders in childhood and in evaluating response to GH therapy. Recombinant ...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2012.04.010
更新日期：2012-06-01 00:00:00
abstract：:CVD is the primary cause of morbidity and mortality in patients who have diabetes mellitus. Most such patients have at least one lipid abnormality. Managing these complex lipid disorders is a crucial component of comprehensive diabetes mellitus care and limits the risk for cardiovascular morbidity and mortality. With ...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2004.11.004
更新日期：2005-03-01 00:00:00
abstract：:Cardiovascular disease is a serious complication of diabetes mellitus. In the last 2 decades, great strides have been made in reducing microvascular complications in patients with diabetes through improving glycemic control. Decreasing rates of cardiovascular events have proved to be more difficult than simply intensi...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2013.09.001
更新日期：2014-03-01 00:00:00
abstract：:This article summarizes the effects of catecholamines and vasopressin on the cardiovascular system, focusing on their metabolic and immunologic properties. Particular attention is dedicated to the septic shock condition. ...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2006.09.012
更新日期：2006-12-01 00:00:00
abstract：:Conventional therapy of hypoparathyroidism consists of oral calcium and either activated vitamin D or vitamin D supplements at varying doses. Although adjusting dosing of calcium and/or activated vitamin D or vitamin D itself, the serum calcium should be obtained weekly or monthly depending on the clinical situation. ...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2018.07.012
更新日期：2018-12-01 00:00:00
abstract：:With apparent failure of SU drug therapy, the management of NIDDM patients becomes even more challenging. The following sequence of actions is recommended. 1. Situational dietary noncompliance (eg, a prolonged vacation or a recent period of family or occupational stress) should be treated first by renewed regular cont...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：
更新日期：1992-06-01 00:00:00
abstract：:Based on the 2010 version, the 2017 World Health Organization (WHO 2017) classification is for pancreatic neuroendocrine neoplasms (PanNEN). The WHO 2017 classification introduces the novel well-differentiated neuroendocrine tumor of high grade (NET G3). A sharp distinction between NET and poorly differentiated neuroe...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2018.04.008
更新日期：2018-09-01 00:00:00
abstract：:Glucocorticoid-remediable aldosteronism (GRA) is a hereditary form of primary hyperaldosteronism and the most common monogenic cause of hypertension. A chimeric gene duplication leads to ectopic aldosterone synthase activity in the cortisol-producing zona fasciculata of the adrenal cortex, under the regulation of adre...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章
doi：10.1016/j.ecl.2011.01.012
更新日期：2011-06-01 00:00:00
abstract：:CD4 + CD25 + regulatory T (TR) lymphocytes are essential to the maintenance of immunologic tolerance in the host. The discovery of Foxp3 as a transcription factor essential to the differentiation of TR ushered in detailed studies of the molecular mechanisms of TR cell development, peripheral homeostasis, and effector ...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2009.01.002
更新日期：2009-06-01 00:00:00
abstract：:Only two drugs are currently approved for long-term use in the treatment of obesity and four others for short-term use. Evaluating the risk-benefit profile is an essential first step. For individuals who have a low body mass index for whom the risk is small, the risk profile must make the drug acceptable for almost ev...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2008.08.004
更新日期：2008-12-01 00:00:00
abstract：:The incidence, clinical presentation, and types of thyroid cancers presenting in childhood are reviewed. The role of antecedent radiation in papillary and follicular thyroid cancers and genetics of medullary thyroid carcinoma are discussed. Unique aspects of therapy and prognosis for the pediatric patient with thyroid...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：
更新日期：1990-09-01 00:00:00
abstract：:Primary aldosteronism used to be considered a rare cause of secondary hypertension. However, accruing evidence indicates that primary aldosteronism is more common than previously recognized. The implications of this increased prevalence are important to public health because autonomous aldosterone production contribut...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2019.08.002
更新日期：2019-12-01 00:00:00
abstract：:All of the actions of atrial natriuretic factor (ANF) can be explained on the basis of ANF's interaction with specific receptors on the plasma membrane of cells in target tissues. These receptors have been identified. Binding to these receptors by ANF is time dependent and specific and occurs with high affinity. Numer...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：
更新日期：1987-03-01 00:00:00
abstract：:In this article we present factors that determine whether one can trust the results of studies that describe the properties of diagnostic tests. We review the ways in which the results of such studies could be presented to the readers and consider factors that determine the value of such reports in one's own clinical ...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/s0889-8529(02)00018-x
更新日期：2002-09-01 00:00:00
abstract：:This article summarizes the clinical features and molecular pathogenesis of medullary thyroid cancer (MTC) and focuses on the current use of molecular, biochemical, and imaging disease markers as a basis for selection of appropriate therapy. Clinicians treating patients who have MTC face the following challenges: (1) ...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2007.04.001
更新日期：2007-09-01 00:00:00
abstract：:The dexamethasone suppression test has undergone unprecedented study among the biologic tests proposed for clinical use in psychiatry. Since the 1970s, its study has involved hundreds of reports and thousands of patients. Although important technical aspects of the test appear to be well accepted and validated, additi...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：
更新日期：1988-03-01 00:00:00
abstract：:Trabecular bone score (TBS) is a novel method that assesses skeletal texture from spine dual-energy X-ray absorptiometry (DXA) images. TBS improves fracture-risk prediction beyond that provided by DXA bone mineral density (BMD) and clinical risk factors, and can be incorporated to the Word Health Organization Fracture...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2016.09.005
更新日期：2017-03-01 00:00:00
abstract：:Various clinical syndromes illustrate the essential role of insulin in modulating somatic growth both in utero and after birth. The effect of insulin on growth is a consequence of direct effects transduced via its homologous receptor and post-receptor signaling pathways and indirect effects on other modulators of grow...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/s0889-8529(05)70344-3
更新日期：1996-09-01 00:00:00
abstract：:Surgical intervention is a necessary part of a multimodal approach to pituitary lesions. This article summarizes the surgical approach to different neoplastic processes affecting the sellar region. ...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2007.10.006
更新日期：2008-03-01 00:00:00
abstract：:Aging in men is associated with a decrease in serum testosterone levels due to attrition in testicular Leydig cells and slowing of the hypothalamic GnRH pulse generator. The practicing endocrinologist is frequently consulted for consideration of testosterone therapy in older men with late-onset hypogonadism (LOH), a c...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2013.02.012
更新日期：2013-06-01 00:00:00
abstract：:Thyroid nodules are extremely common, affecting from 4% to 7% of the population. Fine-needle aspiration biopsy is the most accurate and cost-effective technique for nodule diagnosis. It is simple, safe, and should be the first test used in patient work-up. Routine thyroxine (T4) suppressive therapy is no longer recomm...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/s0889-8529(05)70282-6
更新日期：1997-12-01 00:00:00
abstract：:Health care providers and patients have lots of choice to treat type 2 diabetes, but the blood glucose improvement is limited. The one therapy with unlimited potential (at least theoretically) is insulin. Many studies show that glucose control is achievable with insulin safely in most patients with type 2 diabetes. Ef...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2012.03.004
更新日期：2012-03-01 00:00:00
abstract：:Osteoporosis is characterized by low bone mass and microarchitectural deterioration of bone tissue leading to decreased bone strength and an increased risk of low-energy fractures. Central dual-energy X-ray absorptiometry measurements are the gold standard for determining bone mineral density. Bone loss is an inevitab...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2015.05.002
更新日期：2015-09-01 00:00:00
abstract：:A consensus conference of the American Association of Clinical Endocrinologists and American College of Endocrinology held in February 2016 advocated expanding the use of continuous glucose monitoring (CGM) in the management of diabetes. Based on the data described in this paper, CGM use is shown to improve glucose co...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2016.06.003
更新日期：2016-12-01 00:00:00
abstract：:Unlike other pituitary hormones, PRL is under tonic inhibition by the hypothalamus by way of the PRL inhibitory factor, dopamine. GAP and GABA may also be inhibitory. PRL-releasing factors include TRH and VIP and possibly others. Circulating PRL is predominantly monomeric, although some patients with hyperprolactinemi...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：
更新日期：1992-12-01 00:00:00
abstract：:The degree of hyperglycemia may be an important predictor of morbidity and mortality among patients with MI or stroke, and in those undergoing surgical procedures including coronary artery bypass. Hyperglycemia should be aggressively controlled from the time of hospital admission regardless of the patient's primary me...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/s0889-8529(05)70162-6
更新日期：2000-12-01 00:00:00
abstract：:Obesity in adults is associated with excess mortality and excess risk of coronary heart disease, hypertension, hyperlipidemia, diabetes, gallbladder disease, certain cancers, and osteoarthritis. Overweight children often become overweight adults, and overweight in adulthood is a health risk. Although childhood overwei...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/s0889-8529(03)00074-4
更新日期：2003-12-01 00:00:00
abstract：:Although biotechnology has provided physicians with essentially unlimited supplies of growth hormone (GH), there are currently only a few clear-cut indications for exogenous GH therapy. Data now support the use of GH in the treatment of children with GH deficiency and short girls with Turner syndrome. Tantalizing prel...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：
更新日期：1992-09-01 00:00:00
abstract：:Vitamin D insufficiency and deficiency can be diagnosed with measurements of serum 25-hydroxyvitamin D (25OHD). Most vitamin D is derived from sunlight (80%), so serum 25OHD levels are lowest in late winter and early spring. Dietary vitamin D in North America is small, about 100 to 200 IU daily. A recent review of the...
journal_title：Endocrinology and metabolism clinics of North America
pub_type： 杂志文章,评审
doi：10.1016/j.ecl.2017.07.003
更新日期：2017-12-01 00:00:00
