Medicine
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Acute intermittent porphyria (AIP) is caused by hydroxymethylbilane synthase (HMBS) gene mutation. ⋯ Physicians should pay attention to AIP attack in patients with suspected symptoms and make use of genetic testing to increase identification of mutated HMBS gene carriers for further preventive strategy.
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Syncope is a complicated clinical condition involving various diseases. Syncope due to myxoma-like right atrial thrombus is rarely seen in patient without structural heart disease. ⋯ This patient had a past medical history of right femoral neck fracture, which might be responsible for the formation of the myxoma-like right atrial thrombus. We should always consider echocardiography examination in syncope patient at risk of thrombus formation.
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Case Reports
Tangier disease may cause early onset of atherosclerotic cerebral infarction: A case report.
The present study explored the relationship between the adenosine triphosphate (ATP)-binding cassette A1 (ABCA1) gene, atherosclerosis, and cerebral infarction. The diagnosis and treatment ideas of stroke caused by Tangier disease via the summary of the diagnosis and treatment process of one case with juvenile stroke were explored. The relevant literature on the clinical manifestations, laboratory examinations, and treatment of Tangier disease was reviewed. ⋯ ABCA1 gene mutation caused early onset of atherosclerosis, leading to the occurrence of cerebral infarction. The cerebral infarction associated with reduced high-density lipoprotein (HDL), was under intensive focus with respect to ABCA1 gene. Child and Juvenile stroke patients with low HDL should not be excluded from the possibility of Tangier disease.
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Observational Study
Effects of the attenuation correction and reconstruction method parameters on conventional cardiac dynamic SPECT.
Nuclear cardiology has not witnessed development of new tracers or hardware for many years. Hence there is a need for the development of improvised techniques. Dynamic cardiac single photon emission computed tomography (SPECT) is one such technique that has a potential to overcome the limitations of conventional myocardial SPECT including the absolute quantification of blood flow. ⋯ These parameters also showed a direct effect on the defect extent in final results. The study showed that the AC may partly improve the bias of calculated normal washout value. The effect of attenuation correction on the defective washout value could not be answered comprehensively in this paper.
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Observational Study
Early postoperative outcomes of surgery for intestinal perforation in NEC based on intestinal location of disease.
Current surgical strategies for necrotizing enterocolitis (NEC) include primary drainage, resection with enterostomies, and primary anastomosis. There is considerable controversy regarding the preferable surgical management of NEC. We sought to investigate whether the surgical outcomes of newborns with NEC undergoing exploratory laparotomy differed according to the location of the disease site. ⋯ The mean NICU length of stay (P = .088) was longer for the patients with drainage, although the difference did not attain significant. No difference in the overall mortality rate was detected between the 2 groups (P = .10). The postoperative outcomes in newborns undergoing laparotomy were associated with the surgical type, which was determined by disease location in the bowel.