To present the pathologist with current clinical information on diagnosis, differential diagnosis, staging, and prognosis of thyroid cancers, topics presented are: Poorly differentiated thyroid carcinoma; Paraganglimoa; Immunohistochemical markers for [books.google.com]

PATIENTS AND METHODS: The proband was a 43-yr-old woman who presented with a corrected serum calcium of 2.74 mmol/liter (normal = 2.15-2.55 mmol/liter), a serum PTH of 47 pg/ml (normal = 10-65 pg/ml), and a urinary calcium clearance:creatinine clearance [ncbi.nlm.nih.gov]

Presentation on theme: "Familial Hypocalciuric Hypercalcemia(FHH) CASR Disorders"— Presentation transcript: 1 Familial Hypocalciuric Hypercalcemia(FHH) CASR Disorders Gita Majdi, M.D, MRCP (UK), FRCPC,ABIM PGY5 Endocrinology Feb 2015 2 Objectives: Introduction [slideplayer.com]

A de novo heterozygous CASR mutation that is responsible for NHPT may also present in individuals with asymptomatic hypocalciuric hypercalcemia. [edmcasereports.com]

• Surgical Procedure

  There are two commonly utilized surgically procedures for the management of HPT in MEN 1: total parathyroidectomy with autotransplantation, and subtotal parathyroidectomy. [entokey.com]

  Surgical Notes Za4ck13: If the parathyroid hormone (PTH) is high and blood calcium is high, is there anything that can be done beside surgery? Please explain Cleveland Clinic's normal surgical procedure for parathyroid surgery. [my.clevelandclinic.org]

• Respiratory Distress

  distress (SMARD1) IGHMBP2 Spinale Muskelatrophie (SMA) SMN1 Spinale und bulbäre Muskelatrophie Kennedy AR Spinocerebelläre Ataxie SCA1, SCA2, SCA3, SCA6, SCA7, SCA17 Spondylocostal dysostosis (AR) DLL3 Spondyloepiphyseal dysplasia with congenital joint [meduniwien.ac.at]

• Heart Failure

  Food and Drug Administration granted Priority Review to Pfizer for its application to market tafamidis, its treatment for transthyretin amyloid cardiomyopathy (ATTR-CM), a rare, fatal, and underdiagnosed condition associated with progressive heart failure [globalgenes.org]

  She had also sometimes exhibited slight elevation of parathyroid hormone (97 pg/ml) while receiving treatment for hypertension and heart failure with atrial fibrillation, which had been detected by the Department of Cardiology at 71 years of age. [jlc.jst.go.jp]

  Hypercalcemia Agent Mode of action Indication in hypercalcemia Cautions Normal saline 2 to 4 L IV daily for 1 to 3 days Enhances filtration and excretion of Ca ++ Severe↑Ca ++ > 14 mg per dL (3.5 mmol per L) Moderate↑Ca ++ with symptoms May exacerbate heart [aafp.org]

• Fracture

  A case of NHPT carrying the heterozygous S591C has previously been described with multiple fracture and bone erosion (6). [edmcasereports.com]

  Recurrent pancreatitis, cholelithiasis, chondrocalcinosis, and vascular calcification may also occur, although bone mass and fracture rate are normal. [clinicaladvisor.com]

  In general, homozygous or compound heterozygous variants typically cause neonatal severe hyperparathyroidism ( NSHPT ), an autosomal-recessive disorder with life-threatening hypercalcemia and multiple fractures. [invitae.com]

  These updated recommendations include the following: serum calcium level 1 mg/dL over the upper limits of normal, creatinine clearance < 60 mL/min, T score less than -2.5 at any site, and/or prior fragility fracture and age younger than 50. [acpinternist.org]

• Hyporeflexia

  CNS symptoms: Confusion, weakness, lethargy, hyporeflexia, altered mental status, coma. CVS symptoms: Hypertension, occasional bradycardia and 1 st degree heart block; ECG changes such as shortened QT interval, J waves & widening T waves. [lecturio.com]

[…] severe primary hyperparathyroidism Establishing a diagnosis of autosomal dominant hypoparathyroidism As part of the workup of idiopathic hypoparathyroidism As part of the workup of patients with Bartter syndrome Clinical Information Discusses physiology [mayomedicallaboratories.com]

Genetic testing is an important part of the workup in the assessment of patients with suspected MEN 2 syndrome, and the clinical features and tumor behavior are closely related to the specific RET germ-line mutation present. [entokey.com]

Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

The cost of cinacalcet (Sensipar) ranges from $4,000 to $23,500 per year, depending on the dosage. 57 Treatment of CaSR Oral CaSR antagonists (calcilytics) are in development for the treatment of osteoporosis. [slideplayer.com]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Individuals with familial (benign) hypocalciuric hypercalcemia, type 1 (HHC1/FHH) are generally asymptomatic throughout life and do not require treatment. [genedx.com]

To present the pathologist with current clinical information on diagnosis, differential diagnosis, staging, and prognosis of thyroid cancers, topics presented are: Poorly differentiated thyroid carcinoma; Paraganglimoa; Immunohistochemical markers for [books.google.com]

(Outcomes/Resolutions) The prognosis of Autosomal Dominant Hypocalcemia is reported to be dictated by the type and severity of symptoms in the affected individuals Individuals with mild signs and symptoms of ADH have better prognosis than those with severe [dovemed.com]

Prognosis Familial hypocalciuric hypercalcemia is a benign disease. Complications Hypercalcemia can cause pancreatitis and chondrocalcinosis. Lipomas are frequent too. Bibliography Aida, K., Koishi, S., Inoue, M., Nakazato, M., Tawata, M., Onaya, T. [renaltube.com]

Prognosis FHH does not lower life expectancy and has a benign, stable course. The documents contained in this web site are presented for information purposes only. [orpha.net]

Etiology There are 3 genetic types of FHH based on chromosome location. FHH type 1 accounts for 65% of cases and is due to inactivating mutations in the CASR gene, localized to 3q21.1. This gene encodes the calcium-sensing receptor (CaSR). [orpha.net]

Patients with hypercalcemia should also be referred to an endocrinologist if the corrected serum calcium level indicates hypercalcemia but the PTH level is normal, if the etiology remains unclear, or if further diagnostic help is needed, he noted. [acpinternist.org]

After acute symptoms have resolved, an intravenous infusion of calcium should be initiated at a rate to keep the serum calcium levels in the low normal range while an investigation of the etiology ensues. [hawaii.edu]

The etiology of MEN1 syndrome is menin inactivation. [hormones.gr]

Summary Epidemiology Prevalence is unknown. [orpha.net]

Epidemiology Spread of hypercalcemia Hypercalcemia is a common condition and is often detected incidentally. Mild asymptomatic hypercalcemia occurs in about 1 in 1000 individuals, with an incidence of hypercalcemia of about 25 to 30 per 100,000. [lecturio.com]

Wermers RA, Khosla S, Atkinson EJ, Achenbach SJ, Oberg AL, Grant CS, 2006 Incidence of primary hyperparathyroidism in Rochester, Minnesota, 1993-2001: an update on the changing epidemiology of the disease. J Bone Miner Res 21: 171-177. 2. [hormones.gr]

From basic science and pathophysiology to clinical best practices, Brenner & Rector’s The Kidney is your go-to resource for any stage of your career. [books.google.com]

[…] severe primary hyperparathyroidism Establishing a diagnosis of autosomal dominant hypoparathyroidism As part of the workup of idiopathic hypoparathyroidism As part of the workup of patients with Bartter syndrome Clinical Information Discusses physiology, pathophysiology [mayomedicallaboratories.com]

Cotter, Hypothesis review: are clathrin-mediated endocytosis and clathrin-dependent membrane and protein trafficking core pathophysiological processes in schizophrenia and bipolar disorder? Mol. [link.springer.com]

Cotter, Hypothesis review: are clathrin-mediated endocytosis and clathrin-dependent membrane and protein trafficking core pathophysiological processes in schizophrenia and bipolar disorder? Mol. Psychiatry 17 (7), 669–681 (2012) CrossRef PubMed 25. [springermedizin.de]

The mainstay for treatment in patients with MEN 2, with early identification of germ-line mutations in the RET gene, is prophylactic thyroidectomy to prevent medullary thyroid carcinoma. [entokey.com]

Center for Research, Prevention and Treatment of Atherosclerosis Hadassah-Hebrew University Medical Center Jerusalem Israel 3. Pediatric Endocrinology, Armon Child Center Carmel Hospital, Clalit Health Service Haifa Israel 4. [link.springer.com]

To prevent any sample cross contamination, a unique sample tracking control is added into each patient sample. Each labeled patient product is then purified, quantified, and combined with the same amount of reference product. [preventiongenetics.com]

Loss of WSTF prevents repression of expression of CYP27B1 by the calcitriol-bound VDR resulting in increased synthesis of calcitriol. [clinicaladvisor.com]