Search our Database of Scientific Publications and Authors

I’m looking for a

    9664 results match your criteria Conn Syndrome

    1 OF 194

    Who was Dr. William C. Baum?
    World J Surg 2018 Jan 19. Epub 2018 Jan 19.
    Department of Surgery, University of Virginia School of Medicine, P O Box 800709, Charlottesville, VA, 22908, USA.
    The first discovery of primary hyperaldosteronism secondary to an aldosterone-secreting adrenal adenoma has been credited solely to Dr. Jerome Conn, an endocrinologist at the University of Michigan and for whom, Conn syndrome was named. Dr. Read More

    Aldosterone, SGK1, and ion channels in the kidney.
    Clin Sci (Lond) 2018 Jan 19;132(2):173-183. Epub 2018 Jan 19.
    Department of Physiology, McGill University, 3649 Promenade Sir William Osler, Montreal, Quebec H3G 0B1, Canada
    Hyperaldosteronism, a common cause of hypertension, is strongly connected to Na+, K+, and Mg2+ dysregulation. Owing to its steroidal structure, aldosterone is an active transcriptional modifier when bound to the mineralocorticoid receptor (MR) in cells expressing the enzyme 11β-hydroxysteroid dehydrogenase 2, such as those comprising the aldosterone-sensitive distal nephron (ASDN). One such up-regulated protein, the ubiquitous serum and glucocorticoid regulated kinase 1 (SGK1), has the capacity to modulate the surface expression and function of many classes of renal ion channels, including those that transport Na+ (ENaC), K+ (ROMK/BK), Ca2+ (TRPV4/5/6), Mg2+ (TRPM7/6), and Cl- (ClC-K, CFTR). Read More

    A novel hybrid left renal vein transposition and endovascular stenting technique for the treatment of posterior nutcracker syndrome.
    J Vasc Surg Cases Innov Tech 2017 Sep 18;3(3):142-145. Epub 2017 Jul 18.
    Section of Vascular and Endovascular Surgery, Yale University, New Haven, Conn.
    Posterior nutcracker syndrome occurs when a retroaortic left renal vein becomes compressed between the abdominal aorta and the lumbar spine. Although open surgical approaches remain the treatment of choice, endovascular stenting has been used successfully. We describe a case of a 28-year-old man who presented with microscopic hematuria, left-sided flank pain, and testicular swelling. Read More

    GENETICS IN ENDOCRINOLOGY: The expanding genetic horizon of primary aldosteronism.
    Eur J Endocrinol 2018 Jan 18. Epub 2018 Jan 18.
    P Mulatero, Department of Medical Sciences, University of Torino, Torino, Italy
    Aldosterone is the main mineralocorticoid hormone in humans and plays a key role in maintaining water and electrolyte homeostasis. Primary aldosteronism (PA), characterized by autonomous aldosterone overproduction by the adrenal glands, affects 6% of the general hypertensive population and can be either sporadic or familial. Aldosterone producing adenoma (APA) and bilateral adrenal hyperplasia (BAH) are the two most frequent subtypes of sporadic PA, and 4 forms of familial hyperaldosteronism (FH-I to FH-IV) have been identified. Read More

    A systematic review on management of nutcracker syndrome.
    J Vasc Surg Venous Lymphat Disord 2017 Dec 29. Epub 2017 Dec 29.
    Section of Vascular and Endovascular Surgery, Yale University School of Medicine, New Haven, Conn. Electronic address:
    Objective: Although nutcracker syndrome (NS) is rare, patients presenting with symptoms or signs and anatomic compression of the left renal vein (LRV) can be considered for intervention. Open, laparoscopic, and endovascular techniques have been developed to decrease the venous outflow obstruction of the LRV. The paucity of data regarding the management of this uncommon disease process poses a challenge for adequate recommendations of the best treatment modality. Read More

    Systematic review of May-Thurner syndrome with emphasis on gender differences.
    J Vasc Surg Venous Lymphat Disord 2017 Dec 28. Epub 2017 Dec 28.
    Section of Vascular Surgery, Department of Surgery, Yale University School of Medicine, New Haven, Conn. Electronic address:
    Objective: May-Thurner syndrome (MTS) is increasingly recognized as a frequent source of leg swelling and a precipitating factor for venous thromboembolism. This paper is a systematic review of the English literature on MTS with an analysis focusing on gender differences in presentation and treatment.

    Methods: A systematic review of the English literature between April 1967 and December 2014 was performed using the following terms: "May-Thurner syndrome," "Cockett syndrome," and "iliac vein compression syndrome. Read More

    Image quality and radiation dose of low-tube-voltage CT with reduced contrast media for right adrenal vein imaging.
    Eur J Radiol 2018 Jan 26;98:150-157. Epub 2017 Nov 26.
    Department of Diagnostic Radiology, Tohoku University Hospital, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan.
    Objectives: To compare image quality and radiation dose of right adrenal vein (RAV) imaging computed tomography (CT) among conventional, low kV, and low kV with reduced contrast medium protocols.

    Methods: One-hundred-and-twenty patients undergoing adrenal CT were randomly assigned to one of three protocols: contrast dose of 600mgI/kg at 120-kV tube voltage setting (600-120 group), 600mgI/kg at 80kV (600-80 group), and 360mgI/kg at 80kV (360-80 group). Iterative reconstruction was used for 80-kV groups. Read More

    Double hit! A unique case of resistant hypertension.
    BMJ Case Rep 2017 Dec 22;2017. Epub 2017 Dec 22.
    Division of Endocrinology, Diabetes, and Metabolism, Department of Medicine, NYU School of Medicine, New York City, New York, USA.
    A middle-aged woman with obesity, hyperlipidaemia and diet-controlled diabetes was referred for resistant hypertension. Her blood pressure (BP) was uncontrolled on five medications, including a diuretic. Physical exam revealed a systolic ejection murmur, and ECHO demonstrated moderate hypertrophy. Read More

    [Functional diagnostics in endocrinology].
    Internist (Berl) 2018 Jan;59(1):38-47
    Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Campus Innenstadt, Ziemssenstraße 1, 80366, München, Deutschland.
    When investigating many endocrinological diseases, basal laboratory parameters are not sufficient to distinguish between physiological and pathological hormone secretion. Functional diagnostics plays a decisive role in this context. Stimulation and suppression tests are used depending on whether under- or over-function needs to be diagnosed. Read More

    Congenital adrenal hyperplasia causing hypertension: an illustrative review.
    J Hum Hypertens 2017 Dec 18. Epub 2017 Dec 18.
    University of Calgary, Calgary, AB, Canada.
    Congenital adrenal hyperplasia (CAH) is often considered a pediatric endocrinology condition, but we present two cases of young adults who presented with hypertension. An 18-year-old woman was found to have hypertension and hypokalemia when she presented for gonadectomy for 46, XY gonadal dysgenesis. She was subsequently found to have low cortisol, elevated progesterone, and elevated aldosterone. Read More

    Genetic Reduction or Negative Modulation of mGlu7 Does Not Impact Anxiety and Fear Learning Phenotypes in a Mouse Model of MECP2 Duplication Syndrome.
    ACS Chem Neurosci 2017 Dec 14. Epub 2017 Dec 14.
    Department of Pharmacology, Vanderbilt University , Nashville, Tennessee 37232, United States.
    Rett syndrome and MECP2 Duplication syndrome are neurodevelopmental disorders attributed to loss-of-function mutations in, or duplication of, the gene encoding methyl-CpG-binding protein 2 (MeCP2), respectively. We recently reported decreased expression and function of the metabotropic glutamate receptor 7 (mGlu7) in a mouse model of Rett syndrome. Positive allosteric modulation of mGlu7 activity was sufficient to improve several disease phenotypes including cognition. Read More

    Targeted disruption of the Kcnj5 gene in the female mouse lowers aldosterone levels.
    Clin Sci (Lond) 2018 Jan 16;132(1):145-156. Epub 2018 Jan 16.
    Department of Medicine, EMIT Division, Addenbrooke's Hospital, Hills Road, Cambridge, U.K.
    Aldosterone is released from adrenal zona glomerulosa (ZG) cells and plays an important role in Na and K homoeostasis. Mutations in the human inwardly rectifying K channel CNJ type (KCNJ) 5 (KCNJ5) gene encoding the G-coupled inwardly rectifying K channel 4 (GIRK4) cause abnormal aldosterone secretion and hypertension. To better understand the role of wild-type (WT) GIRK4 in regulating aldosterone release, we have looked at aldosterone secretion in a Kcnj5 knockout (KO) mouse. Read More

    Coexistence of Primary Hyperaldosteronism and Graves' Disease, a Rare Combination of Endocrine Disorders: Is It beyond a Coincidence-A Case Report and Review of the Literature.
    Case Rep Endocrinol 2017 30;2017:4050458. Epub 2017 Oct 30.
    Department of Endocrinology, Colombo South Teaching Hospital, Kalubowila, Sri Lanka.
    Background: Primary hyperaldosteronism is a known cause for secondary hypertension. In addition to its effect on blood pressure, aldosterone exhibits proinflammatory actions and plays a role in immunomodulation/development of autoimmunity. Recent researches also suggest significant thyroid dysfunction among patients with hyperaldosteronism, but exact causal relationship is not established. Read More

    The E3 ubiquitin ligase Siah1 regulates adrenal gland organization and aldosterone secretion.
    JCI Insight 2017 Dec 7;2(23). Epub 2017 Dec 7.
    Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
    Primary and secondary hypertension are major risk factors for cardiovascular disease, the leading cause of death worldwide. Elevated secretion of aldosterone resulting from primary aldosteronism (PA) is a key driver of secondary hypertension. Here, we report an unexpected role for the ubiquitin ligase Siah1 in adrenal gland development and PA. Read More

    Case report: schwannoma arising from the unilateral adrenal area with bilateral hyperaldosteronism.
    BMC Endocr Disord 2017 Dec 6;17(1):74. Epub 2017 Dec 6.
    Department of Endocrinology, Metabolism and Diabetes, Kindai University Faculty of Medicine, 377-2 Ohno-higashi, Osaka-sayama, Osaka, 589-8511, Japan.
    Background: We report a rare case of a juxta-adrenal schwannoma that could not be discriminated from an adrenal tumor before surgical resection and was complicated by bilateral hyperaldosteronism. To the best of our knowledge, this is first case in which both a juxta-adrenal schwannoma and hyperaldosteronism co-existed.

    Case Presentation: A 69-year-old male treated for hypertension was found to have a left supra-renal mass (5. Read More

    Disordered CYP11B2 Expression in Primary Aldosteronism.
    Horm Metab Res 2017 Dec 4;49(12):957-962. Epub 2017 Dec 4.
    Medizinische Klinik und Poliklinik IV, Klinikum der Ludwig-Maximilians-Universität München, Munich, Germany.
    Primary aldosteronism is the most common type of secondary hypertension affecting 6-10% of patients with primary hypertension. PA is mainly caused by unilateral hyperaldosteronism due to an aldosterone-producing adenoma, unilateral hyperplasia with or without micronodules or bilateral zona glomerulosa hyperplasias with or without macro or micronodules. The development of antibodies against the terminal enzyme of aldosterone biosynthesis (CYP11B2) has permitted the further characterization of normal adrenals and resected adrenals from patients with primary aldosteronism. Read More

    Confirmatory Tests for the Diagnosis of Primary Aldosteronism: A Prospective Diagnostic Accuracy Study.
    Hypertension 2018 01 20;71(1):118-124. Epub 2017 Nov 20.
    From the Department of Endocrinology, the First Affiliated Hospital of Chongqing Medical University (Y.S., S.Y., W.H., J.H., Q.C., Y.W., T.L., L.M., Q.Z., S.Z., M.M., Z.W., H.Q., Q.L.) and School of Public Health and Management, Chongqing Medical University (B.P.), China; and Division of Cardiology, Department of Medicine, Pittsburgh Heart, Lung, Blood, and Vascular Medicine Institute, University of Pittsburgh Medical Center, University of Pittsburgh School of Medicine, PA (D.B.).
    The diagnosis of primary aldosteronism typically requires at least one confirmatory test. The fludrocortisone suppression test is generally accepted as a reliable confirmatory test, but it is cumbersome. Evidence from accuracy studies of the saline infusion test (SIT) and the captopril challenge test (CCT) has provided conflicting results. Read More

    Ann Endocrinol (Paris) 2017 Oct;78 Suppl 1:S11-S20
    Service d'endocrinologie, hôpital Haut-Lévèque, avenue Magellan, CHU de Bordeaux, 33600 Pessac, France.
    The 2017 Endocrine Society annual meeting included several communications and debates on the conservative adrenal surgery in bilateral hereditary pheochromocytomas (BHP), bilateral adrenal macronodular hyperplasia (BAMH) and primary hyperaldosteronism (PHA). The general principle is to preserve a part of the adrenal cortex to prevent the occurrence of a definitive adrenal insufficiency. In BHP, cortical sparing surgery allows more than 50% of patients to maintain normal corticotropic function at 10 years with a low recurrence rate (~ 10%). Read More

    ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency.
    J Allergy Clin Immunol 2017 Nov 16. Epub 2017 Nov 16.
    Department of Pathology, New York University School of Medicine, New York, NY. Electronic address:
    Background: Store-operated Ca2+ entry (SOCE) through Ca2+ release-activated Ca2+ channels is an essential signaling pathway in many cell types. Ca2+ release-activated Ca2+ channels are formed by ORAI1, ORAI2, and ORAI3 proteins and activated by stromal interaction molecule (STIM) 1 and STIM2. Mutations in the ORAI1 and STIM1 genes that abolish SOCE cause a combined immunodeficiency (CID) syndrome that is accompanied by autoimmunity and nonimmunologic symptoms. Read More

    [Clinical value of tumor size in the evaluation of adrenal incidentalomas].
    Zhonghua Yi Xue Za Zhi 2017 Nov;97(42):3324-3328
    Department of Endocrinology, PLA Lanzhou General Hospital, Lanzhou 730030, China.
    Objective: To investigate the clinical value of tumor size in the evaluation of endocrinological and histological natures regarding adrenal incidentaloma (AI) patients. Methods: A total of 1 941 AI patients who were hospitalized in Department of Endocrinology, Chinese PLA General Hospital between January 1997 and December 2016 were retrospectively reviewed. The demographics of patients, imaging features, functional status and histological results were analyzed. Read More

    [Role of adrenal vein sampling in differential diagnosis of primary aldosteronism subtypes].
    Zhonghua Yi Xue Za Zhi 2017 Nov;97(42):3291-3296
    Department of Endocrinology, Drum Tower Hospital Affiliated to Nanjing University Medical School, Nanjing 210008, China.
    Objective: To investigate the role of adrenal vein sampling (AVS) in identifying the subtype of primary aldosteronism (PA). Methods: AVS was performed in 50 patients who were confirmed as PA between September 2010 and September 2016 in Nanjing Drum Tower Hospital. Clinical, biochemical and follow-up data were reviewed retrospectively. Read More

    Contextual Fear Extinction Induces Hippocampal Metaplasticity Mediated by Metabotropic Glutamate Receptor 5.
    Cereb Cortex 2017 Nov 9:1-14. Epub 2017 Nov 9.
    Department of Pharmacology, Vanderbilt University, Nashville, TN 37232, USA.
    Dysregulated fear memory can lead to a broad spectrum of anxiety disorders. The brain systems underlying fear memory are manifold, with the hippocampus being prominently involved by housing fear-related spatial memories as engrams, which are created and stored through neural changes such as synaptic plasticity. Although metabotropic glutamate (mGlu) receptors contribute significantly to both fear behavior and hippocampal synaptic plasticity, the relationship between these two phenomena has not been fully elucidated. Read More

    Contralateral suppression of aldosterone at adrenal venous sampling predicts hyperkalemia following adrenalectomy for primary aldosteronism.
    Surgery 2018 Jan 9;163(1):183-190. Epub 2017 Nov 9.
    Department of Surgery, Mayo Clinic, Rochester, MN.
    Background: We aimed to determine whether a greater degree of contralateral suppression of aldosterone secretion at adrenal venous sampling predicted the development of postoperative hyperkalemia after unilateral adrenalectomy for primary aldosteronism.

    Methods: A retrospective analysis of patients undergoing unilateral adrenalectomy for primary aldosteronism between 2004-2015 was performed. Clinical and biochemical parameters of patients who developed hyperkalemia (≥5. Read More

    Consequences of Different Corticosteroids on Serum Potassium and Prostate-Specific Antigen in Patients Receiving Abiraterone for Castration-Resistant Prostate Cancer: A Retrospective Observational Study.
    Clin Med Insights Oncol 2017 30;11:1179554917737736. Epub 2017 Oct 30.
    Department of Pharmacy, Juntendo University Nerima Hospital, Tokyo, Japan.
    Background: Abiraterone acetate is an androgen synthesis inhibitor approved for the treatment of castration-resistant prostate cancer (CRPC). Although co-administration of either prednisone or prednisolone at 10 mg/d has been recommended to reduce the risk of abiraterone-induced hyperaldosteronism (notably hypokalemia) and to give adjunctive pain relief effects, whether these glucocorticoids can be substituted by dexamethasone remains unknown.

    Methods: We performed a retrospective review of medical records of patients who were given abiraterone for the treatment of CRPC with either prednisolone (ABI/PSL) 10 mg/d or dexamethasone (ABI/DEX) 0. Read More

    An Unusual Case of Takotsubo Syndrome With Hyperaldosteronism as the Potential Cause.
    J Clin Endocrinol Metab 2018 Jan;103(1):12-15
    Department of Cardiology, West China Hospital, Sichuan University, Chengdu, People's Republic of China.
    Context: Catecholamine-related factors are the most popular explanation for the occurrence of Takotsubo syndrome. An aldosterone-related mechanism, however, has not been proposed.

    Case Description: A 45-year-old male patient presenting with ST-segment elevation myocardial infarction was diagnosed with primary aldosteronism, severe hypokalemia, and Takotsubo syndrome. Read More

    Secondary Hypertension: Discovering the Underlying Cause.
    Am Fam Physician 2017 Oct;96(7):453-461
    University of Alberta, Edmonton, Alberta, Canada.
    Most patients with hypertension have no clear etiology and are classified as having primary hypertension. However, 5% to 10% of these patients may have secondary hypertension, which indicates an underlying and potentially reversible cause. The prevalence and potential etiologies of secondary hypertension vary by age. Read More

    Primary Hyperaldosteronism Due to Adrenocortical Adenoma: a Case Report.
    Acta Med Indones 2017 Jul;49(3):249-254
    Department of Internal Medicine Faculty of Medicine, Diponegoro University - Dr. Kariadi Hospital Semarang, Indonesia.
    Primary hyperaldosteronism is an adrenal abnormality in which there is some degree of autonomy of aldosterone secretion. We report a case of thirty three years old Javanese female presented with uncontrolled hypertension, muscular weakness, cramps  and progressing shortness of breath during working for 6 years. She had history of hypertension since age 20. Read More

    Significance of Computed Tomography and Serum Potassium in Predicting Subtype Diagnosis of Primary Aldosteronism.
    J Clin Endocrinol Metab 2017 Oct 6. Epub 2017 Oct 6.
    Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan.
    Context: The number of centers with established adrenal venous sampling (AVS) programs for subtype diagnosis of primary aldosteronism (PA) is limited.

    Objective: Aim was to develop an algorithm for AVS based on subtype prediction by computed tomography (CT) and serum potassium.

    Design: A multi-institutional retrospective cohort study in Japan. Read More

    Obligatory Metabolism of Angiotensin II to Angiotensin III for Zona Glomerulosa Cell-Mediated Relaxations of Bovine Adrenal Cortical Arteries.
    Endocrinology 2018 Jan;159(1):238-247
    Department of Pharmacology and Toxicology, Medical College of Wisconsin, Milwaukee, Wisconsin.
    Hyperaldosteronism is associated with hypertension, cardiac hypertrophy, and congestive heart failure. Steroidogenic factors facilitate aldosterone secretion by increasing adrenal blood flow. Angiotensin (Ang) II decreases adrenal vascular tone through release of zona glomerulosa (ZG) cell-derived vasodilatory eicosanoids. Read More

    Dysregulation of Aldosterone Secretion in Mast Cell-Deficient Mice.
    Hypertension 2017 12 30;70(6):1256-1263. Epub 2017 Oct 30.
    From the Normandie Université, UNIROUEN, INSERM U1239, Rouen, France (H.-G.B., J.W., S.R., C.D., I.B., H.L., E.L.); Department of Pharmacology, Institute for Biomedical Research, Rouen University Hospital, France (J.W.); Normandie Université, UNIROUEN, Rouen, France (A.A.); and Department of Endocrinology, Diabetes, and Metabolic Diseases, Institute for Research and Innovation in Biomedicine, University Hospital of Rouen, France (H.L.).
    Resident adrenal mast cells have been shown to activate aldosterone secretion in rat and man. Especially, mast cell proliferation has been observed in adrenal tissues from patients with aldosterone-producing adrenocortical adenoma. In the present study, we show that the activity of adrenal mast cells is stimulated by low-sodium diet and correlates with aldosterone synthesis in C57BL/6 and BALB/c mice. Read More

    Expanding the Phenotype of the Founder South Asian Mutation in the Nuclear Encoding Mitochondrial RMND1 Gene.
    Indian J Pediatr 2018 Feb 26;85(2):87-92. Epub 2017 Oct 26.
    Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 110060, India.
    Background: Mitochondrial disorders have a wide variability in the phenotype. A 10-mo-old girl presented with a severe phenotype of multisystem involvement due to an uncommon mitochondrial disease. Mutations in the RMND1 gene of nuclear DNA were identified on next generation sequencing. Read More

    Evaluation of Cortisol Production in Aldosterone-Producing Adenoma.
    Horm Metab Res 2017 Nov 25;49(11):847-853. Epub 2017 Oct 25.
    Endocrinology and Diabetes Center, Yokohama Rosai Hospital, Yokohama, Japan.
    Aldosterone-producing adenoma (APA) is sometimes accompanied with subclinical hypercortisolism. We investigated the ability of cortisol production in APA, both clinically and pathologically. A retrospective cohort study was conducted at Yokohama Rosai Hospital from 2009 to 2016. Read More

    Mouse Models of Primary Aldosteronism: From Physiology to Pathophysiology.
    Endocrinology 2017 Dec;158(12):4129-4138
    Medizinische Klinik und Poliklinik IV, Klinikum der Ludwig-Maximilians-Universität München, Germany.
    Primary aldosteronism (PA) is a common form of endocrine hypertension that is characterized by the excessive production of aldosterone relative to suppressed plasma renin levels. PA is usually caused by either a unilateral aldosterone-producing adenoma or bilateral adrenal hyperplasia. Somatic mutations have been identified in several genes that encode ion pumps and channels that may explain the aldosterone excess in over half of aldosterone-producing adenomas, whereas the pathophysiology of bilateral adrenal hyperplasia is largely unknown. Read More

    Orthognathic Surgery and Rhinoplasty to Address Nasomaxillary Hypoplasia.
    Plast Reconstr Surg 2017 Nov;140(5):930-932
    New Haven, Conn. From Yale Plastic Surgery.
    The treatment of nasomaxillary hypoplasia is challenging. The phenotype of Binder "syndrome" includes the following: midfacial hypoplasia, class III malocclusion, small or absent anterior nasal spine, flattened nose, horizontal nostrils, short columella, acute nasolabial angle, and a flat frontonasal angle. A staged approach is used, with orthognathic surgery to achieve vertical maxillary length and sagittal advancement, followed by rhinoplasty aimed to increase nasal tip projection, rotation, and columellar length. Read More

    Characteristics of adrenal incidentalomas in a New Zealand centre.
    Intern Med J 2017 Oct 25. Epub 2017 Oct 25.
    Department of Endocrinology, Christchurch Hospital, Private Bag 4710, Christchurch, New Zealand.
    Background: Management of adrenal incidentalomas (AI) is becoming more conservative, based on international data showing a low incidence of functional or malignant lesions. The clinical characteristics of AI in New Zealand are unknown. Therefore, whether the AI guidelines apply to the New Zealand population is also unknown. Read More

    Unanswered Questions in the Genetic Basis of Primary Aldosteronism.
    Horm Metab Res 2017 Dec 24;49(12):963-968. Epub 2017 Oct 24.
    Department of Nephrology, Medical School, Heinrich Heine University, University Hospital Düsseldorf, Düsseldorf, Germany.
    Over the past six years, the genetic basis of a significant fraction of primary aldosteronism (PA) cases has been solved. Breakthrough discoveries include the role of somatic variants in the KCNJ5, CACNA1D, ATP1A1, and ATP2B3 genes as causes of aldosterone-producing adenomas (APAs), and the recognition of three novel hyperaldosteronism syndromes with germline variants in the KCNJ5, CACNA1D, and CACNA1H genes. The description of somatic variants in CACNA1D and ATP1A1 in aldosterone-producing cell clusters (APCCs) suggests that these clusters are precursors of some aldosterone-producing adenomas. Read More

    Discovery of VU6005649, a CNS Penetrant mGlu7/8 Receptor PAM Derived from a Series of Pyrazolo[1,5-a]pyrimidines.
    ACS Med Chem Lett 2017 Oct 1;8(10):1110-1115. Epub 2017 Sep 1.
    Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, United States.
    Herein, we report the structure-activity relationships within a series of mGlu7 PAMs based on a pyrazolo[1,5-a]pyrimidine core with excellent CNS penetration (Kps > 1 and Kp,uus > 1). Analogues in this series proved to display a range of Group III mGlu receptor selectivity, but VU6005649 emerged as the first dual mGlu7/8 PAM, filling a void in the Group III mGlu receptor PAM toolbox and demonstrating in vivo efficacy in a mouse contextual fear conditioning model. Read More

    Pattern and predictors of dual antiplatelet use after coronary artery bypass graft surgery.
    J Thorac Cardiovasc Surg 2017 Sep 28. Epub 2017 Sep 28.
    Section of Cardiac Surgery, Yale University School of Medicine, New Haven, Conn. Electronic address:
    Background: Resumption of dual antiplatelet therapy after coronary artery bypass grafting in patients presenting with acute coronary syndrome is recommended, but the current practice pattern in the United States remains unknown. We aimed to investigate the current pattern of dual antiplatelet therapy use after coronary artery bypass grafting at the Yale-New Haven Hospital.

    Methods: We conducted a single-center retrospective review of patients who presented with acute coronary syndrome and underwent coronary artery bypass grafting between 2014 and 2016. Read More

    The Spectrum of Subclinical Primary Aldosteronism and Incident Hypertension: A Cohort Study.
    Ann Intern Med 2017 Nov 10;167(9):630-641. Epub 2017 Oct 10.
    From Brigham and Women's Hospital and Harvard T.H. Chan School of Public Health, Boston, Massachusetts; Vanderbilt University, Nashville, Tennessee; University of Washington, Seattle, Washington; London School of Hygiene & Tropical Medicine, London, United Kingdom; Pontificia Universidad Católica de Chile, Santiago, Chile; and University of California San Diego and Veterans Affairs San Diego Healthcare System, San Diego, California.
    Background: Primary aldosteronism is recognized as a severe form of renin-independent aldosteronism that results in excessive mineralocorticoid receptor (MR) activation.

    Objective: To investigate whether a spectrum of subclinical renin-independent aldosteronism that increases risk for hypertension exists among normotensive persons.

    Design: Cohort study. Read More

    On the effect of hyperaldosteronism-inducing mutations in Na/K pumps.
    J Gen Physiol 2017 Nov 13;149(11):1009-1028. Epub 2017 Oct 13.
    Department of Cell Physiology and Molecular Biophysics, Center for Membrane Protein Research, Texas Tech University Health Sciences Center, Lubbock, TX
    Primary aldosteronism, a condition in which too much aldosterone is produced and that leads to hypertension, is often initiated by an aldosterone-producing adenoma within the zona glomerulosa of the adrenal cortex. Somatic mutations of ATP1A1, encoding the Na/K pump α1 subunit, have been found in these adenomas. It has been proposed that a passive inward current transported by several of these mutant pumps is a "gain-of-function" activity that produces membrane depolarization and concomitant increases in aldosterone production. Read More

    A Novel Method: Super-selective Adrenal Venous Sampling.
    J Vis Exp 2017 Sep 15(127). Epub 2017 Sep 15.
    Endocrinology & Diabetes Center, Yokohama Rosai Hospital;
    Primary aldosteronism (PA) and subclinical Cushing's syndrome (SCS) are conditions in which the adrenal glands autonomously produce excessive amounts of aldosterone and cortisol, respectively. The conventional adrenal venous sampling (cAVS) method collects blood samples from both adrenal central veins and is useful for identifying the laterality of excess hormone production in a unilateral lesion(s), as documented in PA cases. In cAVS, plasma cortisol concentrations (PCCs) are used to normalize plasma aldosterone concentrations (PACs). Read More

    Macrolides Blunt Aldosterone Biosynthesis: A Proof-of-Concept Study in KCNJ5 Mutated Adenoma Cells Ex Vivo.
    Hypertension 2017 12 9;70(6):1238-1242. Epub 2017 Oct 9.
    From the Clinica dell'Ipertensione Arteriosa, Department of Medicine, University of Padua, Italy.
    Aldosterone-producing adenoma (APA), a major subtype of primary hyperaldosteronism, the main curable cause of human endocrine hypertension, involves somatic mutations in the potassium channel Kir3.4 (KCNJ5) in 30% to 70% of cases, typically the more florid phenotypes. Because KCNJ5 mutated channels were reported to be specifically sensitive to inhibition by macrolide antibiotics, which concentration dependently blunts aldosterone production in HAC15 transfected with the G151R and L168R mutated channel, we herein tested the effect of clarithromycin on aldosterone synthesis and secretion in a pure population of aldosterone-secreting cells obtained by immunoseparation (CD56+ cells) from APA tissues with/without the 2 most common KCNJ5 mutations. Read More

    Maternal Pseudo-Bartter Syndrome Associated with Severe Perinatal Brain Injury.
    Indian Pediatr 2017 Sep;54(9):771-773
    Department of Neonatology, KK Women's and Children's Hospital, 100, Bukit Timah Road, Singapore. Correspondence to: Dr Shrenik Vora, Senior Staff Registrar, Department of Neonatology, KK Women's and Children's Hospital, 100, Bukit Timah Road, Singapore 229899,
    Background: Maternal electrolyte imbalance is rarely reported as causative factor of severe perinatal brain injury.

    Case Characteristics: This case outlines a unique maternal and neonatal pseudo-Bartter syndrome presented with metabolic alkalosis and hypochloremia due to maternal severe vomiting.

    Observation: Neonatal MRI brain revealed extensive brain hemorrhages with porencephalic cysts. Read More

    Late-onset Bartter syndrome type II.
    Clin Kidney J 2017 Oct 8;10(5):594-599. Epub 2017 May 8.
    Experimental and Clinical Research Center (ECRC), a joint cooperation between the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine (MDC) in the Helmholtz Association of National Research Centers, Berlin, Germany.
    Mutations in the ROMK1 potassium channel gene (KCNJ1) cause antenatal/neonatal Bartter syndrome type II (aBS II), a renal disorder that begins in utero, accounting for the polyhydramnios and premature delivery that is typical in affected infants, who develop massive renal salt wasting, hypokalaemic metabolic alkalosis, secondary hyperreninaemic hyperaldosteronism, hypercalciuria and nephrocalcinosis. This BS type is believed to represent a disorder of the infancy, but not in adulthood. We herein describe a female patient with a remarkably late-onset and mild clinical manifestation of BS II with compound heterozygous KCNJ1 missense mutations, consisting of a novel c. Read More

    1 OF 194