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]

• Prolonged Immobilization

  Prolonged immobilization People who have been bed-bound for a couple of years develop a mild hypercalcemia. This is a benign condition and often does not require any treatment. [lecturio.com]

  Whitaker recommend several tips for management of patients who do not undergo surgery: Drink plenty of water and avoid inactivity or prolonged immobilization; Restrict calcium in diet to 1,000-1,200 mg daily; Use loop or thiazide diuretics with caution [acpinternist.org]

• Unconsciousness

  MAKINGMARK New York “His stomach pain may fit some syndromes of Western medicine, but my diagnosis would be that he has strong, unconscious emotions that are deeply frightening — and the stomach pain is his mind’s attempt to distract him from these emotions [nytimes.com]

• Hypertension

  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]

  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]

  The high levels of calcium cause symptoms including kidney stones, gastrointestinal issues, hypertension, and fatigue. [invitae.com]

  Cardiovascular effects include hypertension, vascular calcification, and a shortened QT interval on the electrocardiogram. Cardiac arrhythmias are rare. Bone pain can occur in patients with hyperparathyroidism or malignancy. [aafp.org]

  Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature 482, 98–102 (2012). 33. Lunter, G. & Goodson, M. Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads. [nature.com]

• Osteopenia

  Two DXA scans show osteopenia and osteoporosis, and I have lost 1" in height. Injections of Prolia are recommended, however, I prefer nutrition and exercise therapy. [my.clevelandclinic.org]

  Radiographs reveal osteopenia, widened irregular metaphysis, and subperiosteal bone resorption. [clinicaladvisor.com]

• Long Arm

  A summary of CaSR mutations is maintained at the calcium-sensing receptor database [CASRdb] at McGill University. 27 FHH1:Inactivating Mutation In most cases, FHH results from inactivating mutations in the CaSR, whose gene resides on the long arm of chromosome [slideplayer.com]

• Confusion

  With more advanced hypercalcemia, the patient may present with some delirium, confusion, and deteriorating kidney function due to dehydration. Most patients with those symptoms will already be under the care of an oncologist, Dr. LeGrand said. [acpinternist.org]

  Signs and symptoms that may occur in some people with FHH type 3 include high magnesium in addition to calcium, general symptoms of hypercalcemia (such as weakness, fatigue, muscle pain, constipation, depression, confusion, and excessive thirst), lower [rarediseases.info.nih.gov]

  Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances Some individuals who have involvement of the calcium-sensing receptor ( CASR [mayomedicallaboratories.com]

  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]

  Neuromuscular effects include impaired concentration, confusion, corneal calcification, fatigue, and muscle weakness. 8 Nausea, abdominal pain, anorexia, constipation, and, rarely, peptic ulcer disease or pancreatitis are among the gastrointestinal manifestations [aafp.org]

• Polyuria

  Affected individuals may also have fatigue, weakness, mental disturbance, and polydipsia/polyuria. [genedx.com]

  Renal symptoms: Polyuria or nocturia, polydipsia (develop nephrogenic diabetes insipidus; these patients may develop severe dehydration), renal colic (nephrolithiasis). [lecturio.com]

  […] calcium above 12 mg/dL may present with a constellation of symptoms that are commonly remembered as “stones, bones, abdominal moans, and psychic groans,” according to the May 2003 American Family Physician article : renal “stones,” including polydipsia, polyuria [acpinternist.org]

  A family history of hypercalcemia, especially in young children, and the absence of symptoms and signs of hypercalcemia (such as anorexia, neuromuscular symptoms, and polyuria) are characteristic of this disorder. [slideplayer.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]

• Hypocalciuria

  In FHH type 2, marked hypocalciuria is noted. FHH type 3 exhibits mild hypophosphatemia and elevated plasma PTH concentrations. [orpha.net]

  FHH also causes high levels of parathyroid hormone (PTH) and low levels of calcium in the urine (hypocalciuria). In most cases, FHH does not cause signs or symptoms. [1] However, some people with FHH do report symptoms. [rarediseases.info.nih.gov]

  Affected individuals have mild or moderate elevations of calcium in serum, relative hypocalciuria, inappropriately normal serum parathyroid levels and may also have increased serum magnesium levels and a renal calcium/creatinine clearance ratio below [genedx.com]

  FHH is characterized by hypercalcemia, hypocalciuria, hypermagnesemia, and normal to low levels of parathyroid hormone (PTH). FHH is caused by loss-of-function mutations in the CASR gene. [parathyroid.com]

• Calcium Increased

  …increasing the intestinal absorption of calcium. …increasing the synthesis of calcitriol, which, in turn, increases absorption of dietary calcium. …increasing the renal tubular reabsorption of calcium. …increasing excretion of phosphate. [lecturio.com]

  And his father also had high calcium levels. There are only a couple of inherited diseases that can cause increased calcium levels. [nytimes.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]