Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of suspected fatal physical abuse in which the cause of death was proved to be pulmonary embolism. A patient with mental retardation presenting aggressive behavior was admitted to a psychiatric hospital and was treated with major tranquilizers. She suddenly died subsequent to an angina-like attack. For several days before her death, she had been confined to her bed because of very low physical and mental activity. Bruises and abrasions were observed on the extremities, suggesting the recent restraints. There was no positive evidence of physical abuse. At autopsy, the cause of death was elucidated to be pulmonary embolism originating from thrombi in the left popliteal vein. This case indicates the risk of pulmonary embolism in immobilized patients in psychiatric hospitals.
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PMID:Pulmonary embolism: a case of sudden unexpected death in a psychiatric hospital. 1293 91

A 28-year-old man presented with mental retardation, peculiar facial features, radioulnar synostosis, hypogonadism, aplasia of the right kidney, a moderate degree of proteinuria, and peripheral cyanosis. The activated partial thromboplastin time was shortened, and the level of plasma factor VIII was high. A chromosomal analysis revealed a 49, XXXXY karyotype. From the 10th hospital day, he suffered from sudden dyspnea following swelling of the left leg. He was diagnosed as having deep vein thrombosis and pulmonary embolism, and was successfully treated with anticoagulant therapy. This is the first case of the 49, XXXXY syndrome complicated with unilateral renal aplasia, proteinuria, and venous thromboembolism.
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PMID:49, XXXXY syndrome with unilateral renal aplasia, proteinuria, and venous thromboembolism. 1564 56

Use of diagnostic imaging studies for evaluation of pregnant patients with medical conditions not related to pregnancy poses a persistent and recurring dilemma. Although a theoretical risk of carcinogenesis exists, there are no known risks for development of congenital malformations or mental retardation in a fetus exposed to ionizing radiation at the levels typically used for diagnostic imaging. An understanding of the effects of ionizing radiation on the fetus at different gestational stages and the estimated exposure dose received by the fetus from various imaging modalities facilitates appropriate choices for diagnostic imaging of pregnant patients with nonobstetric conditions. Other aspects of imaging besides radiation (ie, contrast agents) also carry potential for fetal injury and must be taken into consideration. Imaging algorithms based on a review of the current literature have been developed for specific nonobstetric conditions: pulmonary embolism, acute appendicitis, urolithiasis, biliary disease, and trauma. Imaging modalities that do not use ionizing radiation (ie, ultrasonography and magnetic resonance imaging) are preferred for pregnant patients. If ionizing radiation is used, one must adhere to the principle of using a dose that is as low as reasonably achievable after a discussion of risks versus benefits with the patient.
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PMID:Imaging the pregnant patient for nonobstetric conditions: algorithms and radiation dose considerations. 1802 13

Prader-Willi syndrome (PWS) is caused by the loss of RNA expression from an imprinted region on chromosome 15 that includes SNRPN, SNORD115, and SNORD116. Currently, there are no mouse models that faithfully reflect the human phenotype and investigations rely on human post-mortem material. During molecular characterization of tissue deposited in a public brain bank from a patient diagnosed with Prader-Willi syndrome, we found RNA expression from SNRPN, SNORD115, and SNORD116 which does not support a genetic diagnosis of Prader-Willi syndrome. The patient was a female, Caucasian nursing home resident with history of morbid obesity (BMI 56.3) and mental retardation. She died at age of 56 from pulmonary embolism. SNORD115 and SNORD116 are unexpectedly stable in post mortem tissue and can be used for post-mortem diagnosis. Molecular characterization of PWS tissue donors can confirm the diagnosis and identify those patients that have been misdiagnosed.
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PMID:Molecular characterization of a patient presumed to have prader-willi syndrome. 2370 Mar 80