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)

453 patients underwent surgery for primary hyperparathyreoidism between 1994 and 2003. In all patients, biochemical parameters were monitored and X-ray with USG of the neck was done. Struma nodosa was concommitantly present in 48 % of treated patients with primary hyperparathyroidism. In such cases, MRI offers better resolution of soft tissues. 98.6 % of treated patients had postoperative decrease of blood calcium to normal level. 5.4 % of cases were reoperations for primary hyperparathyroidism. In 12 % of cases, pathologically changed parathyroid glands in dystopic localization were found. In these dystopic localizations, pathologic parathyroid glands were found: in 3 % intrathyroid, in 7 % mediastinal and in 2 % of all 453 cases in other localization. In 4 % of patients, sternotomy was necessary. Persistent hypocalcemia was not registered in any patient. Transient hypocalcemia with necessity of infusion therapy was observed in 3.5 % of patients. Postoperative hypercalcemia persisted in 1.2 % of patients. Recurrent hypercalcemia was present in 0.2 % of cases. In three cases (0.7 %), unilateral injury of recurrent laryngeal nerve was observed.
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PMID:[Surgical therapy of primary hyperparathyroidism and it's complications. Experience with 453 patients]. 1584 52

We report the case of an 11-year-old child with delayed development who developed signs of exercise-induced pain in the lower limb muscles after an acute attack of appendicitis. He had difficulty standing up from the sitting position and ascending and descending stairs. The physical examination revealed increased reflex activity in the lower limbs. Initially, blood tests, MRI and EMG were normal. Serum phosphorus and calcium were not assayed. Eight months later, the boy's condition worsened (myopathy gait, hyperlordosis) leading to the possible diagnosis of muscle disease. After muscle biopsy, blood tests revealed hypercalcemia at 3.5 mmol/l (normal 2.2-2.6), hypercalciuria, and hypophosporemia. The diagnosis of primary hyperparathyroidism was confirmed by the abnormal level of parathormone initially (19 ng/ml) and later (156 ng/ml) with hypercalcemia. Medical treatment failed and surgery was performed to remove three and a half parathyroid glands. After removal, blood tests returned to normal in six days and the physical examination in three years. The diagnosis of principal cell hyperplasia was retained at the pathology examination. We found no evidence of hypercalcemia or other endocrinopathy such as multiple endocrine neoplasia (MEN 1 or 2a). Study of the menine gene did not reveal any mutation. Muscle dysfunction suggest possible abnormal phosphocalcium regulation. A normal parathormone level with hypercalcemia reveals inappropriate synthesis and secretion.
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PMID:[Primary hyperparathyroidism revealed by pseudomyopathia]. 1595 13

Bone metastasis causes significant morbidity in cancer patients, including bone pain, pathologic fractures, nerve compression syndrome, and hypercalcemia. Animal models are utilized to study the pathogenesis of skeletal metastases and to evaluate potential therapeutic agents. Previously published methods for imaging bone metastasis in rodent models have focused on identifying advanced stage metastasis using simple X-rays. Here we report MRI as a method for detecting early bone metastases in mouse models in vivo. B16 mouse melanoma cells were injected into the left cardiac ventricle of C57BL/6 mice and magnetic resonance (MR) images were obtained of the left leg following the development of metastatic disease, when tumor associated bone destruction was histologically present but not visible by X-ray. T1 and T2 relaxation times of bone marrow were measured in healthy control mice and B16 melanoma tumor-bearing mice. Mean T2 values for normal marrow were 28 ms (SD 5) and for diseased bone marrow were 41 ms (SD 3). T2 relaxation time of diseased bone marrow is significantly longer than that of normal bone marrow (P < 0.0001) and can be used as a marker of early bone metastases. These studies demonstrate that MR imaging can detect bone marrow metastases in small animals prior to development of cortical bone loss identified by X-ray.
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PMID:MRI detection of early bone metastases in b16 mouse melanoma models. 1628 83

We present case report of primary hyperparathyroidism treated surgically as well as a review of literature concerning this subject. The disease of not well known etiology presents with elevated parathormon levels and hypercalcemia. Primary hyperparathyroidism which states 85% percent of all kinds of hyperparathyroidism is usually parathyroid adenoma, in 11-15% glandular hyperplasia and in 1-4% parathyroid cancer. Clinical symptoms are muscle weakness and fatigue, nephrolithiasis, occasionally peptic ulcers, pancreatitis, hypertension. Laboratory test reveal increased level of PTH, hypercalcemia, elevated alkaline phosphatase levels and decreased phosphorus levels. Diagnostic imaging techniques such as ultrasonography, MRI or CT have sensitivity about 52-75%. Highest sensitivity in localization of ectopic parathyroid adenoma has sestamibi scintigraphy with technetium-99. Skeleton x-rays show typical changes in distal parts of bones and osteopenia. Treatment of choice is surgical excision of adenoma. Normalization of PTH and calcium levels after surgery and improvement of renal, musculoskeletal and circulatory system function could be achieved in 95%. Most common complications are recurrent laryngeal nerve injury, hypo- or hyperparathyroidism, bleeding or stridor.
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PMID:[Primary hyperparathyroidism--case report and review of the literature]. 1682 51

Mammary cancer is one of the solid malignancies, which easily metastasizes to bone. The frequency of bone metastases of breast cancer has been reported to be 65-75% of all breast cancer patients, and, in autopsy example at Shikoku Cancer Center, metastasis was recognized to be 74.7%. There are many symptomatic signs of bone metastases, but hypercalcemia needs to be treated immediately. Hypercalcemia might be diagnosed precisely because a lethal symptom appears. For diagnosis, bone scintigram, simple X-rays, MRI, and CT scan were effective. Radiotherapy, surgery, chemotherapy, and hormonal treatments were useful to improve the symptoms from bone metastasis; in addition, bisphosphonates demonstrated a synergistic effect with chemoendocrine treatments. Bisphosphonates also reduced the incidence of symptom-related events in patients with bone metastasis.
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PMID:[The incidence and management of bone metastasis from breast cancer]. 1691 20

Surgery of primary hyperparathyroidism. Primary hyperparathyroidism is usually caused by a single parathyroid adenoma, rarely by multiple adenomas or hyperplasia and in 1-2% of cases by carcinoma. The definitive cure of the disease can be achieved only by surgical means. Unfortunately, only 10% of expected cases based on the number of population are diagnosed in Hungary. The main reason is that the disease has no specific symptoms and it causes only a few cases present with clinical entities such as nephrolithiasis, osteoporosis-osteopenia, pancreatitis, hypertension, peptic ulcer disease, depression, etc. The clue to the diagnosis of primary hyperparathyroidism is usually the laboratory result of hypercalcemia and in order to this aim the measurement of serum Ca would be an obligatory part of routine laboratory investigation in Hungary. The diagnosis of primary hyperparathyroidism rests on the laboratory confirmation of increased serum calcium and inappropriately elevated intact parathyroid hormone concentrations. If surgical intervention is planned, cervical ultrasonography and parathyroid-scintigraphy are indicated for the exact localization of hyperfunctioning parathyroid gland(s). CT and/or MRI are usually not necessary, except in cases of previous neck operation. The operation must be performed by surgeon skilled in parathyroid surgery. The surgical success can be assessed intraoperatively by the use of a gamma probe or by intraoperative measurement of parathyroid hormone concentrations in the serum or in the removed tissue(s). Support of these procedures is recommended. Although many recent publications deal with the minimal invasive methods of parathyroidectomy, the cost-effectiveness of these newer techniques are controversial.
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PMID:[Surgery of primary hyperparathyroidism]. 1722 13

Seizures induced by hypercalcemia are rare. A few case reports of seizures associated with hypercalcemia have been published, but none due to the milk alkali syndrome. This is the first report regarding seizures associated with calcium carbonate overuse. The two patients described in this article, who had no risk factors for developing epilepsy, suffered from status epilepticus probably induced by hypercalcemia. Subsequently, they both developed complex partial seizures, and were later found to have mesial temporal sclerosis on MRI. There are no reports linking hypercalcemia to mesial temporal sclerosis. While this may be a coincidence, there is reason to suspect that the development of persistent epilepsy, possibly due to mesial temporal sclerosis, was caused by prolonged seizures induced by hypercalcemia.
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PMID:Mesial temporal sclerosis after status epilepticus due to milk alkali syndrome. 1780 61

The number of newly diagnosed cases of multiple myeloma in the Czech Republic is about 3-4 per 100 000 persons per year. In the higher age groups, the incidence increases. Multiple myeloma is an illness that reacts well to treatment which can result in periods of remission lasting for years. Some of the patients are even able to return to work. A pre-requisite for successful treatment is early diagnosis and this is usually in the hands of first line physicians. This is the reason why the Czech Myeloma Group, in conjunction with neurologists, orthopedicians and radio diagnosticians has issued the following recommendations for first line physicians containing a more detailed description of the symptoms and the diagnostic pitfalls of the disease. This disease reminds a chameleon for the variety of its symptoms. For the sake of clarification, we shall divide multiple myeloma symptoms into five points, each of which is reason enough to warrant an examination to confirm or rule out a malignant cause of health problems (a negative result does not automatically mean exclusion). If any of the recommended examinations results positive, the diagnostic process must be continued, in which case a general practitioner refers the patient to a specialist health centre. Observing these recommendations should minimize the number of cases of late diagnosis. 1. Bone destruction symptoms. - Unexplained backache for more than one month in any part of spine even without nerve root irritability or without pain in other part of skeleton (ribs, hips, or long bones). - Pain at the beginning of myeloma disease is very similar to benigne common discopathy, however the intensity of backache is decreasing within one months in benigne disease. In the case of malignant process the intensity of bone pain is steadily increasing. - Immediate imaging and laboratory investigation are indicated by resting and night pain in spinal column or in any part of skeleton. - Backache with the sign of spinal cord or nerve compression should be sent for immediate X Ray, and focussed CT/MRI followed by acute surgery if needed. - Osteoporosis especially in men and premenopausal women. 2. Features of changed immunity or bone marrow function. Persistent and recurrent infection, typical is normochromic anaemia, with leucopenia and trombocytopenia. 3. Raised erythrocyte sedimentation rate even increase concentration of total plasma protein. 4. Impaired renal function. Increased level of creatinin or proteinuria, nephrotic syndrome with bilateral legs oedema. 5. Hypercalcemia with typical clinical symptoms (polyuria with dehydratation, constipation, nausea, low level conscience, coma). Every one from these points has to be reason for general medical doctor to start battery of tests: -X-ray of bones focused to painful area (mandatory before physiotherapy, local anaesthesia or other empiric therapy). If plain X-ray does not elucidate pain and symptoms are lasting more than one month, please consider all circumstances and results from laboratory investigation. This patient needs referral to the centre with MRI/CT facilities (CT or MRI is necessary investigation in case of nerve root or spine compression). -Investigation of erythrocyte sedimantion rate (high level of sedimentation of erythrocyte can indicate multiple myeloma). -Full blood count. -Basic biochemical investigation serum and urine: serum urea, creatinin, ionts including calcium, total protein, and albumin CRP (high concentration of total protein indicates myeloma, low level of albumin indicates general pathological process, similary increased concentration of fibrinogen, impaired renal function indicates myeloma kidney, however hypercalcemia is typical for highly aggressive myeloma). -Quantitative screening for IgG, IgM and IgA in serum (isolated raised level one of immunoglobulin with decreased level of the others indicates myeloma). -Common electrophoresis of serum is able to detect monoclonal immunoglobulin level at few gramm concentration. If all the laboratory investigation are in normal level the possibility that the current problems are multiple myeloma origine is smaller, but it does not exclude one of rare variant--non secretory myeloma (undifferentiated plasmocyt lost characteristic feature to produce monoclonal immunoglobulin). If any of tests indicate the possibility of myeloma, patient require urgent specialist referral to department with possibility to make diagnosis of malignant myeloma.
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PMID:[Recommendations for early identification of damage to the skeleton by malignant processes, and for early diagnosis of multiple myeloma]. 1817 27

We present a case that demonstrates the utility of early SPECT images associated with fusion images with MRI for presurgical localization in a case of persistent hyperparathyroidism after a first surgery. Three years after that surgery, severe hypercalcemia (14.7 mg/dL) and elevated parathormone (PTH) (944 pg/mL) were detected. MRI and SPECT parathyroid scintigraphy showed an abnormal parathyroid lesion localized behind the inferior pole of the thyroid right lobe. At surgical reexploration a right inferior parathyroid adenoma was removed (258 mg). However, intraoperative PTH remained high and a total thyroidectomy was performed looking for an intrathyroid lesion. After that, the elevated PTH persisted and an ectopic parathyroid gland was identified in the tracheoesophageal groove (958 mg), corresponding with the lesion seen on the fusion image of MRI and SPECT. After removal of this lesion, the PTH dropped to 85%.
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PMID:Early parathyroid MIBI SPECT imaging in the diagnosis of persistent hyperparathyroidism. 1858 Feb 33

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominantly inherited syndrome. MEN1 is characterized by the presence of functioning and nonfunctioning tumors or hyperplasia of the pituitary gland, parathyroid glands, and pancreatic islet cells. In addition, MEN1 carriers can have adrenal or thyroid tumors and non-endocrine tumors, such as lipomas, angiofibromas, and leiomyomas. Although leiomyoma is not a major component of MEN1, it is thought to occur more frequently than expected. However, there has been no report of a case of MEN1 with leiomyoma in Korea so far. This report describes a patient with multiple leiomyomas in MEN1. A 50-year-old woman was referred for further evaluation of elevated calcium levels and osteoporosis. Biochemical abnormalities included hypercalcemia with elevated parathyroid hormone. There was hyperprolactinemia with pituitary microadenoma in sella MRI. An abdominal MRI demonstrated adrenal nodules and leiomyomas in the bladder and uterus. Endoscopic ultrasonography demonstrated esophageal leiomyoma and pancreatic islet cell tumor. A subtotal parathyroidectomy with thymectomy was performed. Sequencing of the MEN1 gene in this patient revealed a novel missense mutation (D350V, exon 7). This is the first case of MEN1 accompanied with multiple leiomyomas, parathyroid adenoma, pituitary adenoma, pancreatic tumor, and adrenal tumor.
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PMID:Multiple endocrine neoplasia type 1 with multiple leiomyomas linked to a novel mutation in the MEN1 gene. 1872 10


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