Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020437 (hypercalcemia)
 10,293 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present the MRI findings in a case of subcutaneous fat necrosis of the newborn. To our knowledge, the MRI findings of this entity have not been reported. Subcutaneous fat necrosis of the newborn is an uncommon, benign process in full-term infants. Hypercalcemia may be a potentially life-threatening complication of this otherwise self-limiting process.
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PMID:Subcutaneous fat necrosis of the newborn. 1052 90

A 35-year old woman was admitted to our hospital because of slowly increased numbness of lower truncus and the legs for 10 months. She showed atopic dermatitis on her nape and bilateral popliteal fossa, and signs and symptoms of anorexia nervosa, such as asitia, emaciation, and menopause. Neurologic examination revealed Lhermitte's sign, muscle weakness of bilateral hands, deep and superficial sensory disturbance below the Th 4 level of thoracic spinal cord, and increased tendon reflexes of four limbs. Laboratory data showed hyperIgEemia and high titer of mite antigen specific IgE in sera. Cervical MRI demonstrated abnormal intensity area located at the C6 to C7 segments (i.e. low intensity in T1 weighted images and high in T2). She also showed hypercalcemia and swelling of the parathyroid gland, and had been diagnosed primary hyperparathyroidism by scintigram of the parathyroid gland. We concluded that this case is thought to be atopic myelitis, which has been recently reported as acute myelitis associated with hyperIgEemia and atopic dermatitis proposed by Kira et al. (1997). The patient also had anorexia nervosa and primary hyperparathyroidism.
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PMID:[A case of atopic myelitis]. 1088 30

The paper presents current diagnostic and therapeutic approach in parathyroid cancer. The suspicion of parathyroid cancer should be taken into account in patients with primary hyperparathyroidism symptoms (and elevated total and ionised calcium blood level and PTH blood level), present palpable cervical mass and enlarged cervical lymph nodes. Further diagnosis should be based on ultrasound of the neck (including power-Doppler ultrasound), subtraction 99mTc-MIBI and 123J scintigraphy, ultrasound-guided fine needle aspiration, and CT or MRI if necessary to assess the stage of the process. The elective surgical procedure should be primary 'en block' excision of the tumour with the unilateral thyroid lobe and the following loco-regional adjuvant radiotherapy. Patients who underwent surgical treatment due to parathyroid cancer require long-term follow-up as the risk of local recurrence or distant metastases (mostly into lungs or bones) remains high even many years after initial operation. Patients with dissemination usually suffer from severe hypercalcemia leading to death if untreated correctly. Thus, so crucial is effective treatment of hypercalcemia (diuresis, biphosphonates, calcitonine, oktreotide).
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PMID:[Parathyroid neoplasm--diagnostic challenge and therapeutic difficulty]. 1090 88

A 2 month-old male infant presented with severe hypercalcemia due to parathyroid hyperplasia. A total parathyroidectomy and partial heterotopic autotransplantation were carried out. Hypercalcemia recurred two months later. Normocalcemia was re-established after removing one half of the implanted tissue. Despite two separate surgical explorations and several imaging studies, including 99mTc-sestamibi scintigraphy, ultrasonography, and MRI, only three parathyroid glands were found. Severe pulmonary calcinosis has not previously been reported in children with PHPT. In conclusion, developmental variations of the parathyroid glands may be difficult to identify with present imaging techniques. This may pose difficulties in management of PHPT. The present report describes pulmonary calcinosis as a sequela which can cause additional morbidity in these infants.
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PMID:Primary hyperparathyroidism in an infant with three parathyroid glands and pulmonary calcinosis. 1159 79

A 54 year old man presented with frontal headaches for one year. A CT scan of the head revealed a pituitary mass. He denied a change in vision or galactorrhea, but did have decreased frequency of erections and a recent episode of renal stones. On physical exam, the cranial nerves were normal. Visual field exam revealed mild bilateral temporal defects. The genitalia were normal and the testes were soft. Laboratory evaluation revealed: Na, 134 mM/l; K, 6.7 mM/l; Cl, 104 mM/l; HCO3, 22 mM/l; BUN, 47 mg/dl; Cr, 8.3 mg/dl; Ca, 12.5 mg/dl; Phos, 5.5 mg/dl; prolactin, 32.0 ng/ml; T4, 4.46 microg/dl; TSH, 2.07 microU/ml; LH, 18.1 mIU/ml; FSH 3.2 mIU/ml; alpha subunit 1.6 ng/ml; testosterone 255 ng/dl; cortisol, 20.3 microg/dl; cortisol after 250 microg cortrosyn, 38.5 microg/dl (time 60 minutes); growth hormone, 1.4 ng/ml; IGF-1, 47 ng/ml; PTH, <1 pg/ml; 25-hydroxyvitamin D, 14 ng/ml; 1,25-dihydroxyvitamin D, 69 pg/ml. These results were felt to be consistent with a non-PTH-mediated hypercalcemia, such as humoral hypercalcemia of malignancy, or a vitamin D-mediated hypercalcemia, such as lymphoma, sarcoidosis or tuberculosis. Head MRI demonstrated a 3.5 x 3.5 x 2.5 cm heterogeneous mass enlarging the sella, deforming the clivus and compressing the cavernous sinus, basilar artery and left side of the optic chiasm. There was a small focus of high signal in the superior part of the mass on the T1-weighted image from either a proteinaceous cyst with early calcium deposition or sub-acute blood. These radiographic findings were felt to be consistent with a pituitary adenoma. The patient was treated with intravenous hydration and thyroxine 50 microg daily and underwent a transsphenoidal resection of the pituitary lesion. Pathologic examination revealed a pituitary adenoma with multiple granulomas and crystalline material; this was consistent with sarcoid within the adenoma. Post-operatively, the serum LH fell to 5.5 mIU/ml. A subsequent transbronchial biopsy revealed multiple non-caseating granulomas. A serum ACE level was elevated at 132.6 U/l. He received oral prednisone 60 mg daily with resolution of the hypercalcemia. Neurosarcoidosis occurs in 5 to 15% of patients with sarcoidosis and can involve the hypothalamus and pituitary gland. This is the first reported case of sarcoidosis occurring within a pituitary adenoma.
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PMID:Sarcoidosis within a pituitary adenoma. 1213 93

In this study, we report an 84-year-old female proband in a Japanese family with familial hypocalciuric hypercalcemia (FHH) caused by an R648stop mutation in the extracellular calcium-sensing receptor (CaR) gene. At the age of 71 years, she presented with hypercalcemia (11.4 mg/dl), hypocalciuria (Cca/Ccr = 0.003), hypermagnesemia (2.9 mg/dl), and a high-serum parathyroid hormone (PTH) level (midregion PTH, 3225 [160-520] pg/ml). At the age of 74 years, a family screening was carried out and revealed a total of 9 hypercalcemic individuals (all intact PTH values <62 pg/dl) among 17 family members tested, thus, being diagnosed as FHH. Two and one-half of three clearly enlarged parathyroid glands were resected, because persistently high PTH levels (intact PTH, 292 pg/ml; midregion PTH, 5225 pg/ml) and the presence of a markedly enlarged parathyroid gland by several imaging modalities (ultrasonography, computed tomography [CT], magnetic resonance imaging [MRI], and subtraction scintigraphy) suggested coexistent primary hyperparathyroidism (pHPT); however, hypercalcemia persisted postoperatively. Histological and immunohistochemical examination revealed that the resected parathyroid glands showed lipohyperplasia as well as normally expressed Ki67, vitamin D receptor (VDR), and the CaR. Sequence analysis disclosed that the proband and all affected family members had a heterozygous nonsense (R648stop) mutation in the CaR gene. This mutation is located in the first intracellular loop; thus, it would be predicted to produce a truncated CaR having only one transmembrane domain (TMD) and lacking its remaining TMDs, intracellular loops, and C-terminal tail. Western analysis of biotinylated HEK293 cells transiently transfected with this mutant receptor showed cell surface expression of the truncated protein at a level comparable with that of the wild-type CaR. The mutant receptor, however, exhibited no increase in intracellular free calcium concentration (Ca2+i) when exposed to high extracellular calcium concentrations (Ca2+o). The proband's clinical course was complicated because of associated renal tubular acidosis (RTA) and nephrotic syndrome. However, it was unclear whether their association affected the development of elevated serum PTH and parathyroid gland enlargement. This report is the first to show that an R648stop CaR mutation yields a truncated receptor that is expressed on the cell surface but is devoid of biological activity, resulting in FHH.
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PMID:Familial hypocalciuric hypercalcemia caused by an R648stop mutation in the calcium-sensing receptor gene. 1246 11

We report a case of genital sarcoidosis that presented characteristic features on MRI. A 25-year-old man sarcoidosis patient with ocular and lung lesions presented a painful mass in the left scrotum together with systemic symptoms of fever, appetite loss, headache, and stomach-ache during the tapering of steroids. The patient was hypercalcemic, and this was thought to be the cause of his systemic symptoms. MRI showed multiple nodules of bilateral testes and enlargement of bilateral epididymis; the patient was diagnosed with testicular and epididymal lesions of sarcoidosis. An increased steroid dosage improved his hypercalcemia and genital lesions.
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PMID:Sarcoidosis with bilateral epididymal and testicular lesions. 1258 27

Parathyroid carcinoma is an uncommon endocrine malignancy, with difficult diagnosis. There are several presenting clinical and biochemical features that suggest it: much higher serum calcium and PTH levels than parathyroid adenomas, symptoms of severe hypercalcemia, the classical target organs affected and a palpable neck mass. Pathologic findings, local invasion, lymph node and distant metastases prove the diagnosis. Initial surgical therapy (en bloc dissection) is the only chance for cure it. The management of recurrent and/or metastatic parathyroid carcinoma is also surgical, resulting in significant palliation from hypercalcemia, whereas radiation therapy and chemotherapy are not helpful. Bisphosphonates (drugs that inhibit bone resorption) control acute and chronic hypercalcemia when surgery is not effective or possible. Preoperative localization studies (cervical ultrasound, CT scan, MRI and sestamibi scan) are useful in patients with recurrent or persistent parathyroid cancer.
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PMID:[Diagnostic-therapeutic management of parathyroid carcinoma]. 1259 36

Williams syndrome (WS) is a rare genetical disorder with an incidence of 20-50 000 live births. It is caused by a delation of 1 elastin allele located within chromosome subunit 7q11.23 (long arm). It is characterized by: supravalvular aortic stenosis, multiple peripheral pulmonary artery stenosis, a typical face (elfine face), mental and statural deficiency, characteristic dental malformation, transient hypercalcemia that occurs during the 1(st) year of life. We present the case of a 7-month-old infant affected with WS. In order to clarify the cardiac findings, the baby under-went a MRI investigation, requiring an anesthesiological assistance. In this case a deep sedation approach was carried out by giving chloral hydrate 10% per os (80 mg/kg). We did not perform a general anesthesia in order to avoid the risk related to it. No other drugs were used. During the procedure SpO(2), HR, RR, and ETCO(2) were in normal range; ST tract analysis did not reveal any pathological change The examination lasted 95 minutes; at the end the baby was kept under surveillance in the recovery room for 30 minutes, he could be precociously fed. All the procedure was uneventful.
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PMID:Sedation for Magnetic Resonance Imaging in a child affected with Williams syndrome. 1279 85

We report a clinical case of a 26 years old female who had a 2 years evolution chin tumour with hypercalcemia (11.8 mg/dl) and PTH (paratohormone) of 761 pg/ml. She underwent a CT scan and MRI of the mandible, as well as a biopsy followed by excision of the tumour by the maxilofacial surgeons. Our ENT Department asked for a Scintigraphy (Tc99s-mibi) and thoracic-cervical CT, which showed a lesion that turned out to be an adenoma of the lower right parathyroid gland after surgery and pathological examination. The patient suffered a Primary hyperparathyroidism that was the main stimulus for the Brown Tumour made up by macrophagos and multinuclear giant cells, being this the first manifestation of the metabolic disorder. This form of hyperparathyroidism is very rare in the clinic. We do a literature review to establish the differential diagnosis for such pathology.
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PMID:[Brown bone tumor as the first manifestation of primary hyperparathyroidism]. 1456 82


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