Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: 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)

A case of metastatic epidermoid carcinoma arising in benign cystic teratoma of the ovary is reported. The clinical course was complicated by severe hypercalcemia and respiratory distress due to associated diffuse calcification of the lungs. Presumptive evidence is presented to show that prostaglandin E found in the tumor was the cause of the hypercalcemia.
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PMID:Hypercalcemia associated with epidermoid carcinoma in ovarian cystic teratoma. 724 31

Neonatal primary hyperparathyroidism is a life threatening disorder that is associated with severe hypercalcaemia, hypotonia, bone demineralization, fractures and respiratory distress. Treatment consists of total parathyroidectomy and without this affected infants will usually die by the age of three months. We report a patient with neonatal primary hyperparathyroidism who survived without fractures or parathyroidectomy to an age of nine months, and in whom the hypercalcaemia became masked by vitamin D deficiency. At surgery, four-gland hyperplasia was demonstrated and total parathyroidectomy followed by oral calcitriol treatment has restored well-being and normocalcaemia. An absence of skeletal complications, a survival beyond three months of age without parathyroidectomy and the masking of the hypercalcaemia by vitamin D deficiency represents a unique combination of metabolic abnormalities in a patient with neonatal primary hyperparathyroidism.
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PMID:Neonatal primary hyperparathyroidism masked by vitamin D deficiency. 795 63

A 65-year-old male was admitted with diagnosis of bronchial asthma. On admission, he was orthopneic, cyanotic and distressed. Marked hypoxemia with PaO2 of 31.1 mmHg was noted, but no obvious localized airway obstruction on plain chest X-ray film could be detected. These was minimal response to intensive treatment with steroid in addition to various bronchodilators on the presumed diagnosis of bronchial asthma. Two weeks later, chest X-ray disclosed complete atelectasis of the left lung. Stenosis of the left main bronchus with enlarged mediastinal lymph nodes on chest CT was suggested. Endoscopic examination disclosed complete obstruction of the left main bronchus just beyond the carina and polypoid tumors in the right main bronchus and basal segment bronchus. The biopsy specimens revealed squamous cell carcinoma. Chemotherapy with CDDP and VDS resulted in disappearance of atelectasis after one week and marked relief of respiratory distress. Four months later, at the completion of irradiation therapy, an abdominal tumor associated with pain appeared and bone scintigram showed multiple bone metastases. After four times chemotherapy including CDDP, hypercalcemia and renal hypofunction developed, and the patient died. Autopsy disclosed a tumor in the extrahepatic bile duct, cystic lesions of the pancreas and swelling of subcarinal lymph nodes, but no tumorous lesion in the lung and endobronchial tissue. Histological examination of the extrahepatic bile duct tumor revealed adenosquamous cell carcinoma, with predominantly squamous cell carcinoma. Other metastatic lesions consisted of squamous cell carcinoma. These findings are compatible with pulmonary metastases of adenosquamous cell carcinoma of the extrahepatic bile duct.
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PMID:[An autopsy case of adenosquamous cell carcinoma of the extrahepatic bile duct with endobronchial mass obstructing the left main bronchus and masquerading as asthma]. 816 4

Spontaneous hemorrhage of a parathyroid adenoma is a rare occurrence which may manifest with a variety of symptoms including cervical pain, hoarseness, respiratory distress, and dysphagia. We report a case of an elderly woman with a parathyroid adenoma diagnosed 10 years ago and for which she had refused surgery. Throughout this period her hypercalcemia was carefully monitored, and she experienced no symptoms or adverse sequelae from her disease. However, the patient subsequently presented with a 1 day history of a sore throat and a nonproductive cough followed by the acute onset of dysphagia. At this time she was found to have an anterior neck hematoma extending to the midthorax. Computerized tomography and direct laryngoscopy were suggestive of the diagnosis and neck exploration confirmed the presence of a large hematoma beginning at the site of the 3 x 4 cm parathyroid adenoma and extending into the left strap musculature. We report this case of spontaneous hemorrhage of a cervical parathyroid adenoma to bring to mind a rare etiology of acute pharyngoesophageal dysphagia.
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PMID:Acute pharyngoesophageal dysphagia secondary to spontaneous hemorrhage of a parathyroid adenoma. 843 23

We present a male patient with neonatal severe primary hyperparathyroidism, whose manifestation was exceptionally serious for the heterozygous inactivating mutation he carried in the CASR gene. The patient presented soon after birth with respiratory distress requiring long-term mechanical ventilation, bone and chest deformities, feeding problems, and hypotonia. He had hypercalcaemia, hypophosphataemia, and hyperparathyroidism. There was no known history of calcium metabolism disorders in the family. As the impact on calcaemia of a rescue therapy with bisphosphonates was only transient, a subtotal and subsequently total parathyroidectomy were performed in the fourth month of life. Afterwards his clinical status improved and the fractures healed, but his neuropsychological development is delayed due to cerebral atrophy. Genetic analysis revealed a heterozygous missense CASR mutation R185Q, and an approximately equal expression of the mutated and wild-type RNA in the parathyroid tissue. The mother of the child was homozygous for the wild-type allele; the father is unknown. In conclusion, this patient demonstrates how serious neonatal hyperparathyroidism can be when caused by a heterozygous mutation. This may be attributable to a combination of dominant-negative action of the mutant allele with an intrauterine foetal hyperparathyroidism developed in the mother's normocalcaemic environment, further aggravated by a putative maternal vitamin D deficiency during pregnancy.
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PMID:Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene. 1875 24

Acute lung injury (ALI) can be induced by various causes. The occurrence of ALI associated with hypercalcemia has rarely been reported and the mechanisms are unknown. In the present study, we reported the clinical manifestation and pathological findings in patients with hypercalcemia and metastatic calcification. In addition, we addressed the possible mechanism and the preventive strategy for the acute episode of ALI due to hypercalcemic crisis. We encountered five patients with long-term malignancy of various origins. They displayed hypercalcemia and metastatic calcification in the kidney and stomach. One case with transitional cell carcinoma of the urinary bladder developed acute episode of acute respiratory distress syndrome (ARDS). The plasma calcium was elevated to above 5 mM. Simultaneously, He manifested ARDS followed by ALI. The pathological examination revealed severe alveolar edema with multiple calcification. In the other three cases, the plasma calcium level ranged from 3.1 to 4.4 mM and ARDS or ALI did not occur. One patient with esophageal squamous cell carcinoma experienced an acute hypercalcemia (plasma calcium 4.8-5.1 mM) accompanied by ARDS. Corticosteroid and calcitonin were prescribed to reduce the plasma calcium. The symptoms of ARDS also subsided and ALI did not occur. Chronic hypercalcemia results in severe metastatic calcification. The kidney and stomach are the most vulnerable organs. An increase in plasma calcium above 5 mM is a risk factor for developing ARDS and ALI. Our recent experiment in conscious rats and isolated rat's lungs supported this contention. In addition, corticosteroid and calcitonin were able to reduce the plasma calcium and to prevent the occurrence of ARDS and ALI.
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PMID:Acute respiratory distress syndrome associated with hypercalcemia without parathyroid disorders. 1928 Aug 87

Primary hyperparathyroidism (PHPT) is a common endocrine disorder in adults in whom the typical presentation is incidentally discovered as asymptomatic hypercalcemia. PHPT is much less common in children and adolescents, but has greater morbidity in this age group, as most young patients with PHPT will have symptomatic hypercalcemia or complications such as kidney stones, abdominal pain, and skeletal fragility. An important feature of PHPT in younger patients is the relatively high prevalence of germline inactivating mutations of the CASR gene, which encodes the calcium-sensing receptor. Biallelic CASR mutations cause neonatal severe hyperparathyroidism, a life-threatening condition that presents within days of life with marked hypercalcemia, respiratory distress, failure to thrive, and skeletal demineralization. By contrast, more common heterozygous CASR mutations are generally associated with a benign variant of PHPT termed familial hypocalciuric hypercalcemia. Appropriate management of PHPT in children and adolescents requires distinction between familial hypocalciuric hypercalcemia, which generally requires no specific treatment, and other forms of PHPT that are best treated by parathyroidectomy.
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PMID:Primary hyperparathyroidism in children and adolescents. 2298 37

A 31-year-old pregnant woman presented with refractory severe hypercalcemia due to an advanced neuroendocrine tumor masquerading as hyperemesis gravidarum. Octreotide therapy and extensive tumor debulking surgery resulted in symptom control. After a prolonged stay in the intensive care unit due to parapneumonic acute respiratory distress syndrome, the patient delivered a healthy child. Neuroendocrine tumors are a rare complication of pregnancy and a seldom cause of refractory hypercalcemia.
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PMID:[A 31-year-old pregnant woman with refractory hypercalcemia]. 2310 73

A 37-year-old white man diagnosed with multiple myeloma was admitted for respiratory distress. He was found to have hypercalcemia (13.1 mg/dL), hyperphosphatemia (7.2 mg/dL), hyponatremia (121 mEq/L), and acute renal failure (serum urea nitrogen, 116 mg/dL; creatinine, 4.9 mg/dL). On hospital day 7, skin lesions over his elbows, wrists, and fingers were noticed and the dermatology department was consulted. Physical examination revealed 0.5- to 3.0-cm erythematous denuded patches with yellow crusts at the periphery that were localized to the bilateral interdigital web spaces, medial elbows, and volar wrists (Figure 1 and Figure 2). No oral mucosal or conjunctival findings were present. Results from skin biopsies of the lesions revealed focal epidermal necrosis with zones of amorphous basophilic material that focally appeared to perforate the epidermis (Figure 3). Results from Congo red and Verhoeff-van Gieson stains were negative, and results from Von Kossa stain were positive, confirming the perforating material as calcium. Ten days after initial dermatology examination, the patient's respiratory distress worsened and he subsequently died. Autopsy revealed diffuse pulmonary calcinosis and renal tubular calcification. As a result of the autopsy findings, the patient was diagnosed with perforating metastatic calcinosis cutis.
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PMID:An unusual presentation of perforating metastatic calcinosis cutis. 2434 Apr 76

Esophageal cancer is associated with poor prognosis. Its severity is linked to delayed diagnosis which is most often made once a cancer has metastasized, in Africa. Costal metastases are rare. We report a case of a 38-year old Senegalese patient with squamous cell carcinoma of the lower esophagus with lytic metastases to the ribs. Mrs. TD, aged 38, was admitted with painful swelling in right hemithorax associated with weight loss. The patient also reported mechanical dysphagia evolving during 4 months which had not motivated consultation. Clinical examination showed a poor general condition, a hard, sensitive swelling measuring 3 cm along its longer axis, located on the anterolateral surface of the right hemithorax at the level of the 5^thrib. Biological examinations showed normocytic normochromic anemia with hemoglobin level of 9.4 g/dl, non-specific biological inflammatory syndrome, and hypercalcemia (corrected calcium = 107 mg/l. Oesogastroduodenal endoscopy showed a ulcerative, budding, stenotic lesion 32 cm from the dental arches. Anatomopathological examination of the biopsies revealed moderately differentiated squamous cell carcinoma. In addition to oesophageal tumor, thoracoabdominal-pelvic computed tomography showed bone lysis involving the anterior arch of the 5^th rib, carcinomatous pulmonary nodules and bilateral pleural effusion. Pleural fluid aspiration through an exploratory needle showed serohematic fluid and the cytological examination of this fluid objectified carcinomatous cells. The diagnosis of squamous cell carcinoma of the lower esophagus with rib, pleural and pulmonary metastases was retained and palliative treatment was initiated. The evolution was marked by the death of the patient 3 months after gastrostomy, within a context of respiratory distress. The originality of this observation is related to the atypical seat of metastases of this cancer of the esophagus as well as the risk factors of this tumor. Cancer of the esophagus in young adults is a major problem in Africa. The challenge is to determine its risk factors in order to prevent its occurrence.
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PMID:[Costal metastasis revealing esophageal squamous cell carcinoma]. 2845 Oct 2


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