Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0034065 (pulmonary embolism)
 14,979 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The posterior extra-peritoneal route is usually preferred for exeresis of benign tumors of the adrenal glands measuring less than 5 cm. We examined the hospital reports for patients in which Young access was used since 1985. From December 1985 to December 1994, 12 patients underwent surgery for benign tumor of the adrenal gland. There were 9 women and 3 men (mean age 49.4 years, range 29-67). In all patients, the tumor was localized pre-operatively on a CT-scan. There was a unique tumor in each case. There were 11 adrenal adenomas including 10 Conn tumors and 1 secreting tumor (Cushing's syndrome). The last case was a cortical cyst. One patient died in the post-operative period, probably due to massive pulmonary embolism although necroscopic evidence was not obtained. Parietal infection occurred in one case and a spontaneously regressive hematoma in another. Mean duration of hospitalization was 7.0 days. At follow-up, 1 patient suffered deinnervation of the oblique muscles of the abdomen which did not require reoperation. Two months after surgery, clinical signs and hormone disorders related to the Conn adenomas had regressed in 7 of the 9 patients. In summary, the posterior route is perfectly adapted to the treatment of benign tumors of the adrenal glands when the exact localization can be identified on pre-operative imaging. This access should be considered as the reference route of evaluating laparoscopic procedures.
 ...
PMID:[Adrenalectomy by posterior approach for benign adrenocortical tumors. Apropos of 12 cases]. 873 95

Venous thromboembolism is a serious, potentially lethal health problem affecting one per 1,000 people annually. Major surgery, the use of oral contraceptives, complicated pregnancy, fractures, and immobilization increase the risk of thrombosis. In addition to these factors, thrombosis is associated with inherited deficiencies of antithrombin III, protein C, and protein S. Together these do not account for more than five to 10% of the cases. Hereditary activated protein C resistance has been recognized as a basis for a majority of cases of familial thrombosis. It accounted for more than a 10 times higher number than that of other known genetic defects. We describe a case of a young female who presented with a pulmonary embolism and was discovered to have activated protein C resistance. This patient had a heterozygous mutation for factor V Leiden and was taking oral contraceptives. This report underlines: 1) increased risk of venous thrombosis in oral contraceptive users who carry factor V Leiden mutation associated with functional resistance to the normal anticoagulation activities of protein C; 2) most episodes occurring in the young are minor, but pulmonary embolus can occur; 3) the importance of identifying other affected members of the family; and 4) the importance of anticoagulation prophylaxis at times of enhanced risk, particularly during pregnancy, postpartum, and major surgery.
Conn Med 1997 Jun
PMID:Life threatening pulmonary embolus in a factor V Leiden carrier on oral contraceptives: a case report. 923 27

Thromboembolic episodes are common events and affect approximately one in 1,000 persons annually. Pulmonary embolism alone accounts for 50,000 to 100,000 deaths per year in the United States with > 50% of those being elderly persons. Resistance to activated protein C is the most common inherited disorder associated with hereditary thrombophilia. A missense mutation has been identified in the gene coding for coagulation factor V (codon 506) which renders this procoagulant factor resistant to inactivation by activated protein C resulting in an increased risk for venous thrombosis. Recently, a second polymorphism was identified in the prothrombin gene (factor II) which is also associated with increased risk for venous thrombosis. Because of the high prevalence of these two mutations in the general population as well as in specific patient populations, the ability readily to detect these two mutations must be feasible. In this study, we evaluated 303 patients for the prothrombin mutatin (G20210A) which were previously tested for the factor V mutation using established polymerase chain reaction-mediated restriction fragment length polymorphism assays. In these patients, 30 (9.9%) were found to be heterozygous for the factor V Leiden mutation with no homozygous mutants identified. Twenty individuals (6.6%) were heterozygous for the prothrombin G20210A mutation, and we identified two individuals (0.66%) who were homozygous for the 20210A allele. Of the total 303 individuals screened, two were double heterozygotes for both the factor V Leiden and the prothrombin gene mutations. We also describe a multiplex polymerase chain reaction-mediated restriction fragment length polymorphism assay for detecting both mutations in a single-tube double-enzyme digestion reaction making identification of these two mutations easily achievable.
Conn Med 1998 Sep
PMID:Rapid multiplex analysis for the factor V Leiden and prothrombin G20210A mutations associated with hereditary thrombophilia. 978 36

We report a case of a 35-year-old male with a history of recurrent thromboembolic events, who presented to the emergency room with right sided weakness and difficulty with speech. The patient's past medical history included two myocardial infarctions, two deep vein thromboses, and a pulmonary embolism. Subsequent laboratory evaluation indicated that the patient was heterozygous for both the factor V Leiden and prothrombin G20210A mutations. This case report emphasizes the importance of evaluating patients with suspected hereditary thrombophilia for both of these mutations.
Conn Med 2000 May
PMID:Concurrent factor V Leiden and prothrombin G20210A gene mutations in a patient with a history of recurrent thrombosis. 1086 Feb 31

A 62-year-old asymptomatic woman was found to have a left pulmonary artery filling defect on a contrast computerized tomography scan of the chest. Workup revealed a diagnosis of left pulmonary artery sarcoma. Pulmonary artery sarcomas are rare tumors with poor prognosis. A high index of clinical suspicion is required to make a timely diagnosis and avoid inappropriate treatment for pulmonary embolism.
Conn Med 2009 May
PMID:Not pulmonary embolism! 1944 62

Familial Mediterranean fever (FMF) is the autoinflammatory disease and hereditary periodic fever syndrome that most commonly affects people of Eastern Mediterranean origin. It is characterized by recurrent self-limited attacks of fever and serositis, with an increase in acute-phase reactant markers, and is transmitted in an autosomal recessive pattern. Inflammation shifts the hemostatic mechanisms favoring thrombosis. There are few reports of an increased risk of hypercoagulability in patients with FMF in the absence of amyloidosis and nephrotic syndrome. In this case report, we describe a 43-year-old Turkish patient who presented with right-sided pleuritic chest pain and pulmonary embolism. The patient described having prior similar attacks of serositis, but had never been diagnosed with FMF. Further workup revealed an increase in acute phase reactants, negative hypercoagulability studies and heterozygosity for the M694V mutation in the pyrin (MEFV) gene. We identified untreated FMF and chronic inflammation as his only risk factor for pulmonary embolism. With this case report, we support recent studies that have demonstrated that inflammation may lead to prothrombotic states in patients with FMF.
Conn Med 2011 Jan
PMID:Familial Mediterranean fever presenting with pulmonary embolism. 2132 87

A retrospective cohort study of 2,218 patients with deep vein thrombosis or pulmonary embolism during a 25-year period from 1966-1990 in Minnesota showed an annual incidence of venous thromboembolism of 117 per 100,000 (deep vein thrombosis, 48 per 100,000; pulmonary embolism, 69 per 100,000). Higher rates were found in males than females (130 vs 110 per 100,000, respectively) after adjusting for age. Early diagnosis and appropriate treatment of DVT and PE have been shown to significantly reduce mortality and morbidity. Risk factors for venous thromboembolism include alterations in blood flow (surgery, injury or long-distance air travel, pregnancy, obesity), hypercoagulability (factor V Leiden mutation, prothrombin mutation, protein C deficiency, protein S deficiency, antithrombin deficiency, hyperhomocysteinemia, antiphospholipid syndrome, nephrotic syndrome, paroxysmal nocturnal hemoglobinuria) and vessel wall abnormalities. Eighty percent of deep venous thrombosis resolves spontaneously and less than 15% embolize to pulmonary arteries.
Conn Med 2011 Feb
PMID:Saddle pulmonary thromboembolism with zero Wells' score. 2147 78

Pulmonary embolism (PE), most commonly originating from thrombosis in the deep venous system of the lower extremities, remains a controversial area of medicine that frequently generates lively debate. Its clinical presentation varies from asymptomatic, incidentally detected pulmonary emboli to massive embolism resulting in sudden death. Despite the advances made in recent years, a number of fundamental questions remain unanswered regarding the pathogenesis, clinical presentation, diagnosis and treatment of this disease. The diagnosis of PE is confounded by a presentation that may be subtle, atypical, or obscured by a concomitant condition. Safe, minimally invasive techniques have been developed to improve the diagnostic accuracy of the clinical evaluation, and obviate the need to obtain pulmonary arteriography in all but a minority of patients. However, no single diagnostic test is sufficiently sensitive or specific for diagnosis in all patients. This dilemma has resulted in the development of numerous clinical scoring systems to stratify risk, pretest probability and help guide an appropriate diagnostic approach. Anticoagulation therapy with unfractionated heparin (UFH), low molecular weight heparin (LMWH), and Factor Xa inhibitors are the mainstay of therapy for acute PE. The choice of agent is influenced by disease severity, presence or absence of provokingfactors, patient comorbidities, and bleeding risk. These factors also determine whether measures such as thrombectomy, thrombolysis and vena cava filter placement may be employed as adjuncts to anticoagulation. Warfarin is the agent of choice for secondary prevention; newer agents such as direct thrombin and factor Xa inhibitors are emerging as safe and effective alternatives.
Conn Med 2012 Jan
PMID:The diagnosis and management of pulmonary embolism. 2237 72

Acute pulmonary embolism (PE) is a common and potentially lethal condition. Anticoagulation is considered the mainstay therapy while systemic thrombolytic therapy is reserved only for patients who are hemodynamically unstable. However, therapy for PE with evidence of right ventricular strain is not well-defined. We report a case of PE treated successfully with an ultrasound-assisted catheter-directed thrombolytic therapy.
Conn Med 2012 Apr
PMID:Ultrasound-assisted catheter-directed thrombolytic therapy for management of acute pulmonary embolism. 2261 17

Babesiosis is a tick-borne illness caused by the intraerythrocytic parasite Babesia microti. Adult respiratory distress syndrome (ARDS) is a complication of B. microti infection and generally presents later in the course of the disease. We present a case of babesiosis presenting with ARDS. A 59-year-old male with history of hypertension and atrial fibrillation presented with one day of progressive shortness of breath. The patient returned from a trip to Massachusetts one day prior. On arrival to the emergency department (ED) the patient was noted to be febrile with tachycardia, tachypnea, and hypoxia and was intubated for respiratory failure. A computed tomography angiography (CTA) was negative for pulmonary embolism and showed bilateral infiltrates. The Berlin criteria for severe ARDS were met. Tick-borne illness was suspected and Wright-Giemsa stained thin blood smear confirmed the diagnosis of babesiosis. The patient was treated with atovaquone and azithromycin for seven days and was successfully extubated on day four of hospitalization. He continued to clinically improve and was discharged home four days later. The case highlights the importance of physicians being aware of the manifold ways in which babesiosis can manifest.
Conn Med 2014 May
PMID:Severe babesiosis presenting as acute respiratory distress syndrome in an immunocompetent patient. 2497 63


1