9,777 results match your criteria Conn Syndrome


A rare case of hypokalemia-induced rhabdomyolysis.

J Geriatr Cardiol 2018 Apr;15(4):321-324

Department of Cardiology, Beijing Tsinghua Changgung Hospital, Tsinghua University, Beijing, China.

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NEDD9 targets to promote endothelial fibrosis and pulmonary arterial hypertension.

Sci Transl Med 2018 Jun;10(445)

Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.

Germline mutations involving small mothers against decapentaplegic-transforming growth factor-β (SMAD-TGF-β) signaling are an important but rare cause of pulmonary arterial hypertension (PAH), which is a disease characterized, in part, by vascular fibrosis and hyperaldosteronism (ALDO). We developed and analyzed a fibrosis protein-protein network (fibrosome) in silico, which predicted that the SMAD3 target neural precursor cell expressed developmentally down-regulated 9 (NEDD9) is a critical ALDO-regulated node underpinning pathogenic vascular fibrosis. Bioinformatics and microscale thermophoresis demonstrated that oxidation of Cys in the SMAD3 docking region of NEDD9 impairs SMAD3-NEDD9 protein-protein interactions in vitro. Read More

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Role of Cryptochrome-1 and Cryptochrome-2 in Aldosterone-Producing Adenomas and Adrenocortical Cells.

Int J Mol Sci 2018 Jun 5;19(6). Epub 2018 Jun 5.

Division of Internal Medicine and Hypertension, Department of Medical Sciences, University of Torino, 10126 Torino, Italy.

Mice lacking the core-clock components, cryptochrome-1 (CRY1) and cryptochrome-2 (CRY2) display a phenotype of hyperaldosteronism, due to the upregulation of type VI 3β-hydroxyl-steroid dehydrogenase (), the murine counterpart to the human type I 3β-hydroxyl-steroid dehydrogenase () gene. In the present study, we evaluated the role of and genes, and their potential interplay with isoforms in adrenal pathophysiology in man. Forty-six sporadic aldosterone-producing adenomas (APAs) and 20 paired adrenal samples were included, with the human adrenocortical cells HAC15 used as the in vitro model. Read More

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Gitelman syndrome and primary hyperparathyroidism: a rare association.

BMJ Case Rep 2018 Jun 5;2018. Epub 2018 Jun 5.

Department of Endocrinology, Hospital Curry Cabral, Lisboa, Portugal.

Gitelman syndrome(GS) is a rare autosomal recessive salt-losing tubulopathy of young adults, characterised by hypokalaemia, hypomagnesaemia, hypocalciuria and secondary hyperaldosteronism. Hypercalcaemia due to hypocalciuria in these patients is extremely rare.A 25-year-old healthy woman was referred to the Endocrinology clinic for evaluation of persistent hypokalaemia. Read More

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June 2018
2 Reads

Hypertension Update: Resistant Hypertension.

Authors:
Anthony J Viera

FP Essent 2018 Jun;469:20-25

Department of Community and Family Medicine Duke University School of Medicine, Box 2914 DUMC, Durham, NC 27710.

Resistant hypertension is a blood pressure (BP) level that remains above the goal level despite adherence to at least three appropriately dosed antihypertensive drugs of different classes, one of which is a diuretic. Evaluation of suspected resistant hypertension starts with confirming adherence to the drug regimen. White coat hypertension should be ruled out with out-of-office BP level measurements, ideally using 24-hour ambulatory BP monitoring. Read More

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June 2018
2 Reads

CLC Chloride Channels and Transporters: Structure, Function, Physiology, and Disease.

Physiol Rev 2018 Jul;98(3):1493-1590

Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP) and Max-Delbrück-Centrum für Molekulare Medizin (MDC), Berlin , Germany ; and Istituto di Biofisica, Consiglio Nazionale delle Ricerche, Genova , Italy.

CLC anion transporters are found in all phyla and form a gene family of eight members in mammals. Two CLC proteins, each of which completely contains an ion translocation parthway, assemble to homo- or heteromeric dimers that sometimes require accessory β-subunits for function. CLC proteins come in two flavors: anion channels and anion/proton exchangers. Read More

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[Kidney full of stones, and an adrenal gland not quite normal].

Ann Cardiol Angeiol (Paris) 2018 Jun 19;67(3):219-221. Epub 2018 May 19.

Service d'endocrinologie-diabétologie-maladies métaboliques, l'institut du Thorax, CHU de Nantes, 44093 Nantes cedex 1, France. Electronic address:

A 31-year-old patient was followed for cystinuria, justifying CT scans. In 2006, a tissue mass of 3cm of the right adrenal gland, homogeneous, measured at 3.5cm in 2007 was noted. Read More

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Variability of serum aldosterone concentrations in pet ferrets (Mustela putorius furo).

J Am Vet Med Assoc 2018 Jun;252(11):1372-1376

OBJECTIVE To explore sources of serum aldosterone concentration variability in a population of healthy and diseased ferrets, determine a preliminary 1 -sided reference interval for serum aldosterone concentration in healthy ferrets, and identify a decision limit to differentiate healthy from diseased ferrets on the basis of serum aldosterone concentration. DESIGN Prospective threshold definition and diagnostic accuracy study. ANIMALS 78 healthy (n = 56) and diseased (22) ferrets. Read More

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June 2018
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C-Arm Computed Tomography-Assisted Adrenal Venous Sampling Improved Right Adrenal Vein Cannulation and Sampling Quality in Primary Aldosteronism.

Endocrinol Metab (Seoul) 2018 May 4. Epub 2018 May 4.

Department of Internal Medicine, Endocrine Research Institute, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.

Background: Adrenal venous sampling (AVS) is a gold standard for subtype classification of primary aldosteronism (PA). However, this procedure has a high failure rate because of the anatomical difficulties in accessing the right adrenal vein. We investigated whether C-arm computed tomography-assisted AVS (C-AVS) could improve the success rate of adrenal sampling. Read More

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Mineralocorticoid receptor antagonism prevents obesity-induced cerebral artery remodeling and reduces white matter injury in rats.

Microcirculation 2018 May 14:e12460. Epub 2018 May 14.

Department of Pharmacology and Toxicology, Michigan State University, East Lansing, MI, USA.

Objective: Midlife obesity is a risk factor for dementia development. Obesity has also been linked to hyperaldosteronism, and this can be modeled in rats by high fat (HF) feeding from weaning. Aldosterone, or activation of the mineralocorticoid receptor (MR) causes cerebrovascular injury in lean hypertensive rats. Read More

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May 2018
2 Reads

Diagnostic approach to low-renin hypertension.

Clin Endocrinol (Oxf) 2018 May 14. Epub 2018 May 14.

Division of Internal Medicine and Hypertension, Department of Medical Sciences, University of Torino, Torino, Italy.

Renin-angiotensin-aldosterone system (RAAS) plays a crucial role in maintaining water and electrolytes homoeostasis, and its deregulation contributes to the development of arterial hypertension. Since the historical description of the "classical" RAAS, a dramatic increase in our understanding of the molecular mechanisms underlying the development of both essential and secondary hypertension has occurred. Approximatively 25% of the patients affected by arterial hypertension display low-renin levels, a definition that is largely arbitrary and depends on the investigated population and the specific characteristics of the assay. Read More

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Saga of Familial Hyperaldosteronism: Yet a New Channel.

Hypertension 2018 Jun 7;71(6):1010-1014. Epub 2018 May 7.

From the Department of Medicine, University of Padova, Italy.

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June 2018
2 Reads

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.

J Allergy Clin Immunol 2018 May 4. Epub 2018 May 4.

Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Institute of Immunology and Transplantation, Royal Free Hospital, University College London, London, United Kingdom. Electronic address:

Background: Cytotoxic T-lymphocyte antigen 4 (CTLA-4) is a negative immune regulator. Heterozygous CTLA4 germline mutations can cause a complex immune dysregulation syndrome in human subjects.

Objective: We sought to characterize the penetrance, clinical features, and best treatment options in 133 CTLA4 mutation carriers. Read More

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May 2018
2 Reads

Peripheral Tibial Nerve Stimulation for Overactive Bladder Syndrome: Treatment Success and Patient Satisfaction.

Conn Med 2017 Apr;81(4):209-213

Objective: To evaluate the success rate and patient satisfaction ofperipheral tibial nerve stimulation (PTNS) therapy.

Method: Retrospective cohort study assessing PTNS treatment success and patient satisfaction.

Results: Data from 34 women were included. Read More

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Collet-Sicard syndrome secondary to internal carotid artery pseudoaneurysm.

J Vasc Surg 2018 05;67(5):1596-1597

Department of Neurosurgery, Yale University, New Haven, Conn; Department of Radiology and Biomedical Imaging, Yale University, New Haven, Conn.

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MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of primary aldosteronism: the Endocrine Society guideline 2016 revisited.

Eur J Endocrinol 2018 Jul 19;179(1):R19-R29. Epub 2018 Apr 19.

Medizinische Klinik und Poliklinik IVKlinikum der Universität, Ludwig-Maximilians-Universität München, Munich, Germany

The syndrome of primary aldosteronism (PA) is characterized by hypertension with excessive, autonomous aldosterone production and is usually caused by either a unilateral aldosterone-producing adenoma or bilateral adrenal hyperplasia. The diagnostic workup of PA is a sequence of three phases comprising screening tests, confirmatory tests and the differentiation of unilateral from bilateral forms. The latter step is necessary to determine the optimal treatment approach of unilateral laparoscopic adrenalectomy (for patients with unilateral PA) or medical treatment with a mineralocorticoid receptor antagonist (for patients with bilateral PA). Read More

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July 2018
8 Reads

Adrenocortical development: Lessons from mouse models.

Ann Endocrinol (Paris) 2018 Jun 16;79(3):95-97. Epub 2018 Apr 16.

GReD, CNRS, Inserm, université Clermont-Auvergne, 63001 Clermont-Ferrand, France. Electronic address:

The adrenocortical gland undergoes structural and functional remodelling in the fetal and postnatal periods. After birth, the fetal zone of the gland undergoes rapid involution in favor of the definitive cortex, which reaches maturity with the emergence of the zona reticularis(zR) at the adrenarche. The mechanisms underlying the adrenarche, the process leading to pre-puberty elevation of plasma androgens in higher primates, remain unknown, largely due to lack of any experimental model. Read More

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Comparative Genomics and Transcriptome Profiling in Primary Aldosteronism.

Int J Mol Sci 2018 Apr 9;19(4). Epub 2018 Apr 9.

Medizinische Klinik und Poliklinik IV, Klinikum der Universität, Ludwig-Maximilians-Universität München, 80336 Munich, Germany.

Primary aldosteronism is the most common form of endocrine hypertension with a prevalence of 6% in the general population with hypertension. The genetic basis of the four familial forms of primary aldosteronism (familial hyperaldosteronism FH types I-IV) and the majority of sporadic unilateral aldosterone-producing adenomas has now been resolved. Familial forms of hyperaldosteronism are, however, rare. Read More

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April 2018
1 Read

Primary aldosteronism: key characteristics at diagnosis: a trend toward milder forms.

Eur J Endocrinol 2018 Jun 10;178(6):605-611. Epub 2018 Apr 10.

Medizinische Klinik und Poliklinik IVKlinikum der Universität, LMU München, München, Germany

Objective: Primary aldosteronism (PA) is the most common endocrine form of arterial hypertension. The German Conn's Registry's purpose is to improve treatment outcomes of PA. We assessed whether key clinical, biochemical and epidemiological characteristics of newly diagnosed PA cases have changed over time, potentially indicating a different screening and referral practice in Germany evolving from 2008 to 2016. Read More

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Resistant Hypertension in Adults With Type 1 or 2 Diabetes: A Structured Diagnostic Approach.

Can J Diabetes 2018 Apr 8;42(2):173-178. Epub 2018 Jan 8.

Home Dialysis, Division of Nephrology, St. Michael's Hospital, Toronto, Ontario, Canada. Electronic address:

People with diabetes often have difficulty reaching their blood pressure targets and are labelled as having resistant hypertension. Clinicians often move quickly to screen such people for secondary causes of hypertension; however, such causes are rare, and resistant hypertension usually has other explanations that are significantly more common. By using a structured approach to resistant hypertension, clinicians can assist patients to reach their target blood pressure levels. Read More

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Hypothenar hammer syndrome.

Handchir Mikrochir Plast Chir 2018 Feb 28;50(1):52-56. Epub 2018 Mar 28.

In 1934 von Rosen first described a posttraumatic thrombosis of the distal ulnar artery resulting from blunt a trauma to the hypothenar region. But it was Conn in 1970 who named it the "hypothenar hammer syndrome (HHS)" 1-2. Read More

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February 2018

Bone Health in Adrenal Disorders.

Endocrinol Metab (Seoul) 2018 Mar;33(1):1-8

Division of Endocrinology and Metabolism, Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Secondary osteoporosis resulting from specific clinical disorders may be potentially reversible, and thus continuous efforts to find and adequately treat the secondary causes of skeletal fragility are critical to ameliorate fracture risk and to avoid unnecessary treatment with anti-osteoporotic drugs. Among the hyperfunctional adrenal masses, Cushing's syndrome, pheochromocytoma, and primary aldosteronism are receiving particularly great attention due to their high morbidity and mortality mainly by increasing cardiovascular risk. Interestingly, there is accumulating experimental and clinical evidence that adrenal hormones may have direct detrimental effects on bone metabolism as well. Read More

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March 2018
1 Read

Genetics of Nonsyndromic Craniosynostosis.

Plast Reconstr Surg 2018 Jun;141(6):1508-1516

New Haven, Conn. From the Department of Genetics and the Section of Plastic and Reconstructive Surgery, Yale University School of Medicine.

Occurring once in every 2000 live births, craniosynostosis is one of the most frequent congenital anomalies encountered by the craniofacial surgeon. Syndromic craniosynostoses account for approximately 15 percent of cases and demonstrate Mendelian patterns of inheritance with well-established genetic causes; however, nonsyndromic craniosynostoses, which account for approximately 85 percent of cases, are genetically heterogeneous and largely unexplored. Nonsyndromic craniosynostosis is sporadic in more than 95 percent of affected families; thus, surgeons have suggested for decades that nonsyndromic craniosynostosis is likely a fluke occurrence. Read More

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June 2018
3 Reads

Two cases of hypokalaemic rhabdomyolysis: same but different.

BMJ Case Rep 2018 Mar 22;2018. Epub 2018 Mar 22.

Fourth Department of Medicine, Klinikum Wels-Grieskirchen, Wels, Austria.

In this paper, we present two women with hypokalaemic rhabdomyolysis in the context of increased diuretic intake and gastroenteritis, respectively. While their clinical manifestations and laboratory results were strikingly similar, two different underlying disorders were subsequently unveiled. The first patient was diagnosed with Conn syndrome, and adrenalectomy led to significant improvement of hypertension and sustained normokalaemia. Read More

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March 2018
1 Read

Role of Mineralocorticoid Receptors in Obstructive Sleep Apnea and Metabolic Syndrome.

Curr Hypertens Rep 2018 Mar 19;20(3):23. Epub 2018 Mar 19.

Department of Vascular Biology and Hypertension Program, University of Alabama at Birmingham, Birmingham, AL, USA.

Purpose Of Review: This review will summarize recent developments in the research on the mineralocorticoid receptor and its impact on obstructive sleep apnea and metabolic syndrome.

Recent Findings: Aldosterone excess plays an important role in the association between resistant hypertension and obstructive sleep apnea. The prevalence of obesity is increasing rapidly worldwide and is especially common among patients with obstructive sleep apnea, resistant hypertension, and metabolic syndrome, suggesting probable mechanistic links between these three conditions. Read More

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March 2018
3 Reads

Hypertensive crisis with 2 target organ impairment induced by glycyrrhizin: A case report.

Medicine (Baltimore) 2018 Mar;97(11):e0073

Department of Endocrinology and Metabolism.

Rationale: Glycyrrhizin is the main active component of licorice. Licorice and glycyrrhizin induced hypertension has been widely reported, yet licorice and glycyrrhizin induced hypertensive crisis has been rarely known.

Patient Concerns: The case of this report was a 47-year-old woman, who took 225 mg of glycyrrhizin daily for 3 years due to primary biliary cholangitis. Read More

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March 2018
1 Read

Total RNA Sequencing of Rett Syndrome Autopsy Samples Identifies the M Muscarinic Receptor as a Novel Therapeutic Target.

J Pharmacol Exp Ther 2018 May 9;365(2):291-300. Epub 2018 Mar 9.

Departments of Pharmacology (R.G.G., N.M.F., B.J.S., C.K.J., C.W.L., P.J.C., C.M.N.) and Chemistry (C.W.L.), and Vanderbilt Center for Neuroscience Drug Discovery (R.G.G., N.M.F., B.J.S., C.K.J., C.W.L., P.J.C., C.M.N.), Vanderbilt University, Nashville, Tennessee; and Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, Tennessee (P.J.C., C.M.N.)

Mutations in the gene are responsible for the neurodevelopmental disorder Rett syndrome (RTT). MeCP2 is a DNA-binding protein whose abundance and ability to complex with histone deacetylase 3 is linked to the regulation of chromatin structure. Consequently, loss-of-function mutations in MeCP2 are predicted to have broad effects on gene expression. Read More

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May 2018
2 Reads

Update in adrenal venous sampling for primary aldosteronism.

Authors:
Gian Paolo Rossi

Curr Opin Endocrinol Diabetes Obes 2018 Jun;25(3):160-171

Clinica dell'Ipertensione Arteriosa, Department of Medicine - DIMED - University of Padova, Padova, Italy.

Purpose Of Review: Current guidelines recommend adrenal venous sampling (AVS) to identify the surgically curable causes of hyperaldosteronism. In contrast with this recommendation, AVS remains markedly underutilized in clinical practice, which leads to deny curative adrenalectomy, to many patients with primary aldosteronism. The purpose of this review is to challenge the views that AVS is a technically challenging, invasive and risky procedure, which moreover, is difficult to interpret. Read More

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Anomalous adrenal vein anatomy complicating the evaluation of primary hyperaldosteronism.

Radiol Case Rep 2018 Feb 20;13(1):139-141. Epub 2017 Oct 20.

Department of Interventional Radiology, Yale New Haven Hospital, New Haven, CT, USA.

Adrenal vein development in utero occurs concurrently with the development of the inferior vena cava, the renal veins, and the gonadal veins. The embryologic formation of these veins involves communication of various venous systems. Although the left adrenal-renal vein complex is most commonly described as a shared emptying of the left adrenal vein and the left inferior phrenic vein into the left renal vein, there have been reports of numerous anatomic variations of this complex. Read More

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February 2018

Adrenalectomy Lowers Incident Atrial Fibrillation in Primary Aldosteronism Patients at Long Term.

Hypertension 2018 Apr 26;71(4):585-591. Epub 2018 Feb 26.

From the Clinica dell'Ipertensione Arteriosa Department of Medicine - DIMED, University of Padua, Italy.

Primary aldosteronism (PA) causes cardiovascular damage in excess to the blood pressure elevation, but there are no prospective studies proving a worse long-term prognosis in adrenalectomized and medically treated patients. We have, therefore, assessed the outcome of PA patients according to treatment mode in the PAPY study (Primary Aldosteronism Prevalence in Hypertension) patients, 88.8% of whom were optimally treated patients with primary (essential) hypertension (PH), and the rest had PA and were assigned to medical therapy (6. Read More

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April 2018
5 Reads

Accuracy of adrenal computed tomography in predicting the unilateral subtype in young patients with hypokalaemia and elevation of aldosterone in primary aldosteronism.

Clin Endocrinol (Oxf) 2018 May 13;88(5):645-651. Epub 2018 Mar 13.

Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan.

Context: The current Endocrine Society Guideline suggests that patients aged <35 years with marked primary aldosteronism (PA) and unilateral adrenal lesions on adrenal computed tomography (CT) scan may not need adrenal vein sampling (AVS) before proceeding to unilateral adrenalectomy. This suggestion is, however, based on the data from only one report in the literature.

Objective: We sought to determine the accuracy of CT findings in young PA patients who had unilateral adrenal disease on CT with hypokalaemia and elevation of aldosterone. Read More

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May 2018
5 Reads

A short review of primary aldosteronism in a question and answer fashion.

Endocr Regul 2018 Jan;52(1):27-40

5Resident Surgeon, 3rd Department of Surgery, Attikon University Hospital, University of Athens School of Medicine , Athens , Greece.

Objectives: The aim of this study was to present up to date information concerning the diagnosis and treatment of primary aldosteronism (PA). PA is the most common cause of endocrine hypertension. It has been reported up to 24% of selective referred hypertensive patients. Read More

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January 2018
1 Read

Glucocorticoid-remediable aldosteronism in a young adult with a family history of Conn's syndrome.

Clin Case Rep 2018 Feb 15;6(2):416-419. Epub 2018 Jan 15.

Department of CardiologyKliniken an der PaarKrankenhaus AichachAichachGermany.

Glucocorticoid-remediable aldosteronism is a hereditary form of primary hyperaldosteronism and the most common monogenic cause of hypertension. We present the case of a 24-year-old man with a family history of Conn's syndrome. Yet, in the index patient, classical characteristics of mineralocorticoid excess could be reversed by exogenous glucocorticoids. Read More

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February 2018

Novel Compound Heterozygous CLCNKB Gene Mutations (c.1755A>G/ c.848_850delTCT) Cause Classic Bartter Syndrome.

Am J Physiol Renal Physiol 2018 Feb 14. Epub 2018 Feb 14.

Nephrology, Children's Hospital of Nanjing Medical University, China.

Inactivated variants in CLCNKB gene encoding the basolateral chloride channel ClC-Kb cause classic Bartter syndrome characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism. Here we identified two cBS siblings presenting hypokalemia in a Chinese family due to novel compound heterozygous CLCNKB mutations (c.848_850delTCT/c. Read More

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February 2018
6 Reads

The angiotensin type 2 receptor in the human adrenocortical zona glomerulosa and in aldosterone-producing adenoma: low expression and no functional role.

Clin Sci (Lond) 2018 Mar 20;132(6):627-640. Epub 2018 Mar 20.

Clinica dell'Ipertensione Arteriosa, Department of Medicine-DIMED, University of Padova, Italy

The angiotensin II (Ang II) type 2 receptor (AT2R) and the angiotensin-(1-7) (Ang-(1-7)) receptor (MasR) play a cardiovascular protective role by counter-regulating Ang II type 1 receptor (AT1R)-mediated effects, but whether this involves blunting of adrenocortical hormone secretion is unknown. We investigated the presence of AT1R, AT2R, and MasR in aldosterone-producing adenoma (APA), a condition featuring hyperaldosteronism, and in APA-adjacent tissue. The effect of Compound 21 (C21), an AT2R agonist, on CYP11B1 (cortisol synthase) and CYP11B2 (aldosterone synthase) gene expression in NCI-H295R and HAC15 cell lines, and in APA and APA-adjacent tissue, was also assessed using the AT1R antagonist irbesartan to ascertain the specificity of C21 effect. Read More

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March 2018
3 Reads

Overview of aldosterone-related genetic syndromes and recent advances.

Curr Opin Endocrinol Diabetes Obes 2018 Jun;25(3):147-154

INSERM, UMRS_970, Paris Cardiovascular Research Center.

Purpose Of Review: Primary aldosteronism is the most common form of secondary hypertension. Early diagnosis and treatment are key to cure of hypertension and prevention of cardiovascular complications. Recent genetic discoveries have improved our understanding on the pathophysiology of aldosterone production and triggered the development of new diagnostic procedures and targeted treatments for primary aldosteronism. Read More

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June 2018
1 Read

[Conn's syndrome - more than just aldosterone excess?]

Dtsch Med Wochenschr 2018 Feb 6;143(3):143-146. Epub 2018 Feb 6.

Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Ludwig-Maximilians-Universität München.

██ Englischen Text bitte ergänzen! ██. Read More

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February 2018
1 Read

CLCN2 chloride channel mutations in familial hyperaldosteronism type II.

Nat Genet 2018 Mar 5;50(3):349-354. Epub 2018 Feb 5.

Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.

Primary aldosteronism, a common cause of severe hypertension , features constitutive production of the adrenal steroid aldosterone. We analyzed a multiplex family with familial hyperaldosteronism type II (FH-II) and 80 additional probands with unsolved early-onset primary aldosteronism. Eight probands had novel heterozygous variants in CLCN2, including two de novo mutations and four independent occurrences of a mutation encoding an identical p. Read More

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March 2018
3 Reads

An institution-wide algorithm for direct-stick embolization of peripheral venous malformations.

J Vasc Surg Venous Lymphat Disord 2018 05 1;6(3):351-357. Epub 2018 Feb 1.

Division of Hematology, Department of Medicine, Cancer Institute of New Jersey, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ.

Objective: No standardized therapeutic algorithm or embolic agent of choice has yet been identified for management of congenital peripheral venous malformations (VMs). Treatment options and reported outcomes therefore vary widely. Herein, we present an institution-wide algorithm for management of symptomatic congenital peripheral VMs using a single embolotherapeutic modality. Read More

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May 2018
3 Reads

Development of new preclinical models to advance adrenocortical carcinoma research.

Endocr Relat Cancer 2018 Apr 25;25(4):437-451. Epub 2018 Jan 25.

Division of EndocrinologyMetabolism and Diabetes, University of Colorado School of Medicine, Aurora, Colorado, USA

Adrenocortical cancer (ACC) is an orphan malignancy that results in heterogeneous clinical phenotypes and molecular genotypes. There are no curative treatments for this deadly cancer with 35% survival at five years. Our understanding of the underlying pathobiology and our ability to test novel therapeutic targets has been limited due to the lack of preclinical models. Read More

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April 2018
1 Read

ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia.

PLoS One 2018 25;13(1):e0191602. Epub 2018 Jan 25.

Department of Urology, Peking University First Hospital, Xicheng District, Beijing, China.

To investigate Armadillo repeat-containing 5 (ARMC5) mutations in Chinese patients with familial and sporadic primary bilateral macronodular adrenal hyperplasia (PBMAH), we performed clinical data collection and ARMC5 sequencing for three PBMAH families and 23 sporadic PBMAH patients. ARMC5 pathogenic germline mutations were identified in all 3 PBMAH families. Secondary ARMC5 somatic mutations were found in two adrenal nodules from two PBMAH family members with ARMC5 germline mutations. Read More

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March 2018
1 Read

Prevalence of Cardiovascular Disease and Its Risk Factors in Primary Aldosteronism: A Multicenter Study in Japan.

Hypertension 2018 Mar 22;71(3):530-537. Epub 2018 Jan 22.

From the Department of Diabetes, Endocrinology, and Nutrition (Y. Ohno, M.S., N.I.) and Department of Urology (T. Yamasaki, O.O.), Kyoto University, Japan; Department of Internal Medicine, Graduate School of Medical Science, Kanazawa University, Japan (Y. Takeda); Department of Endocrinology, Metabolism, and Nephrology, Keio University School of Medicine, Tokyo, Japan (I.K., H.I.); Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Japan (H.U., M.T., M.N.); Department of Endocrinology and Metabolism, Saiseikai Yokohamashi Tobu Hospital, Yokohama, Japan (T.I.); Division of Metabolism and Endocrinology, Department of Internal Medicine, St. Marianna University School of Medicine Yokohama City Seibu Hospital, Japan (T. Katabami, Y. Tanaka); Department of Diabetes and Endocrinology, Sapporo City General Hospital, Japan (N.W., Y.S.); Department of Molecular Endocrinology and Metabolism, Tokyo Medical and Dental University, Japan (T. Yoshimoto, Y. Ogawa); Department of Metabolic Medicine, Kumamoto University, Japan (J.K.); Department of Nephrology and Endocrinology, Faculty of Medicine, The University of Tokyo, Japan (K.T., M.F.); Department of Endocrinology and Diabetes, Okazaki City Hospital, Japan (M.W.); Department of Cardiology, Sanda City Hospital, Japan (Y.M.); Division of Nephrology, Hypertension, and Endocrinology, Nihon University School of Medicine, Tokyo, Japan (H.K.); Department of Endocrinology, Metabolism, Rheumatology, and Nephrology, Oita University, Yufu, Japan (H.S.); Department of Cardiology, Akashi Medical Center, Japan (K.K.); Department of Metabolic Medicine (M.O.) and Department of Geriatric and General Medicine (K.Y.), Osaka University Graduate School of Medicine, Japan; Department of Cardiology, JR Hiroshima Hospital, Japan (Y.F.); Clinical Research Institute, National Hospital Organization Kyusyu Medical Center, Fukuoka, Japan (A.O.); Department of Endocrinology, Tenriyorozu Hospital, Tenri, Japan (S.O.); Department of Internal Medicine, Uwajima City Hospital, Japan (S.M.); Department of Internal Medicine, Matsuyama Red Cross Hospital, Japan (T.F.); Department of Endocrinology and Metabolism, Tottori University Hospital, Japan (S.I.); Faculty of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Japan (T. Yoneda); Division of Nephrology, Hypertension, Endocrinology, and Diabetology/Metabolism, Fukushima Medical University Hospital, Japan (S.H.); Department of Endocrinology and Diabetes Mellitus, Fukuoka University Hospital, Japan (T. Yanase); Department of Public Health, School of Medicine, International University of Health and Welfare, Narita, Japan (T.S.); Kyoto University Health Services, Japan (T. Kawamura); and Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Japan (F.M., Y. Tabara).

There have been several clinical studies examining the factors associated with cardiovascular disease (CVD) in patients with primary aldosteronism (PA); however, their results have left it unclear whether CVD is affected by the plasma aldosterone concentration or hypokalemia. We assessed the PA database established by the multicenter JPAS (Japan Primary Aldosteronism Study) and compared the prevalence of CVD among patients with PA with that among age-, sex-, and blood pressure-matched essential hypertension patients and participants with hypertension in a general population cohort. We also performed binary logistic regression analysis to determine which parameters significantly increased the odds ratio for CVD. Read More

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March 2018
22 Reads

Frontal dysconnectivity in 22q11.2 deletion syndrome: an atlas-based functional connectivity analysis.

Behav Brain Funct 2018 Jan 20;14(1). Epub 2018 Jan 20.

Department of Psychiatry and Behavioral Sciences, State University of New York Upstate Medical University, 750 East Adams Street, Syracuse, NY, USA.

Background: 22q11.2 deletion syndrome (22q11DS) is a neurodevelopmental syndrome associated with deficits in cognitive and emotional processing. This syndrome represents one of the highest risk factors for the development of schizophrenia. Read More

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January 2018
13 Reads

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

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January 2018
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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 Mg 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), Ca (TRPV4/5/6), Mg (TRPM7/6), and Cl (ClC-K, CFTR). Read More

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January 2018
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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

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September 2017
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GENETICS IN ENDOCRINOLOGY: The expanding genetic horizon of primary aldosteronism.

Eur J Endocrinol 2018 Mar 18;178(3):R101-R111. Epub 2018 Jan 18.

Division of Internal Medicine and Hypertension UnitDepartment 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

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March 2018
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Evaluation of the Saline Infusion Test and the Captopril Challenge Test in Chinese Patients With Primary Aldosteronism.

J Clin Endocrinol Metab 2018 03;103(3):853-860

Department of Endocrinology and Metabolism, West China Hospital, Sichuan University, Chengdu, Sichuan, China.

Context: The aim of this study was to determine whether the diagnosis cutoff values associated with the saline infusion test (SIT) and captopril challenge test (CCT) in the Endocrine Society guidelines are applicable to Chinese subjects.

Objective And Design: We performed a head-to-head comparison of the SIT and CCT among Chinese subjects with primary aldosteronism (PA) and essential hypertension (EH).

Participants And Setting: One hundred sixty-four hypertensive patients were enrolled. Read More

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March 2018
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