Internal medicine
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Case Reports
Bardet-Biedl Syndrome Caused by Skipping of SCLT1 Complicated by Microvesicular Steatohepatitis.
We treated the case of a 22-year-old male patient with liver dysfunction. At 1 year of age, hepatic fibrosis was suspected. ⋯ At 22 years of age, the liver enzyme levels were further elevated and a diagnosis of microvesicular steatohepatitis was made. Insulin resistance, a reduction of muscle mass, an impairment of the fatty acid metabolism, and hyperleptinemia in this syndrome may cause steatohepatitis.
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Objective A positive correlation is observed between the progression of renal impairment and the increasing risk of cardiovascular disease. Our aim was to examine the relationship between the renal resistive index (RRI) assessed by duplex sonography and the extent of atherosclerosis in patients without renal impairment undergoing vascular imaging studies. Methods The RRI was evaluated pre-procedurally among 106 outpatients with an estimated glomerular filtration rate (eGFR) ≥60 mL/min/1.73 m2 undergoing clinically-driven coronary computed tomography angiography (CCTA). ⋯ The RRI was significantly increased with an increasing number of atherosclerotic vessels (absence of atherosclerosis: 0.65±0.04 vs. single-site atherosclerosis: 0.67±0.06 vs. multi-site atherosclerosis: 0.71±0.05, p<0.001). A multivariate logistic regression analysis showed that RRI>0.70 [odds ratio (OR): 4.05, 95% confidence interval (CI), 1.37-12.0, p=0.01], cardio ankle vascular index (CAVI) ≥9.0 (OR: 8.18, 95% CI: 2.47-27.1, p<0.01), diabetes (OR: 4.34, 95% CI: 1.37-13.7, p=0.01) and an eGFR>90 mL/min/1.73 m2 (OR: 5.89, 95% CI: 1.39-25.1, p=0.01) were associated with multi-site atherosclerosis. Conclusion The RRI, a sub-clinical renal parameter is an atherosclerotic marker in patients without renal impairment.
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Objective When patients take neuroleptics, the distinction between Parkinson's disease (PD) and drug-induced parkinsonism (DIP) based solely on clinical features can become difficult. At present, 123I-FP-CIT SPECT (DAT-SPECT) and 123I-metaiodobenzylguanidine (MIBG) myocardial scintigraphy are widely used to supplement the differential diagnosis of parkinsonism. This study assessed the clinical symptoms and neurological findings in the patients suspected of having DIP based on DAT-SPECT findings. ⋯ Although two patients in the DAT-negative group showed poor improvement, they showed a normal H/M ratio on MIBG and no response to levodopa. Conclusion The patients in the DAT-positive group might have prodromal symptoms that were worsened by neuroleptic drugs. The results of detailed history-taking and neurological findings seem to indicate cases of compromised dopaminergic transmission before the administration of neuroleptic drugs.
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We herein report a 24-year-old male construction worker with occupational lead poisoning who presented with acute abdomen and normocytic anemia. The levels of urinary delta-aminolevulinic acid and free erythrocyte protoporphyrin were elevated without any increase in the level of urine porphobilinogen. ⋯ Chelation therapy with calcium disodium ethylenediaminetetraacetate resulted in prompt improvement of the clinical symptoms and the blood lead level. Clinicians should be aware that lead poisoning caused by occupational exposure can still occur sporadically in construction workers in Japan.
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Objective The presence of deep venous thrombosis (DVT) in a cryptogenic stroke (CS) patient with a right-to-left shunt (RLS) may lead to the development of paradoxical embolism. The aim of the present was to investigate the prevalence of DVT and pulmonary embolism (PE) in CS patients and the clinical features of CS in relation to DVT location and the presence of PE. Methods The medical records of 903 patients with cerebral infarction were retrospectively reviewed. ⋯ The P-DVT/PE group comprised 8.3% of the CS patients with an RLS and included a larger number of patients with multi-territory infarction than the D-DVT group. The D-DVT and P-DVT/PE groups tended to be female and older, while the P-DVT/PE group tended to have pre-stroke disability. Conclusion CS patients, especially those with multi-territory lesions, should be immediately examined for DVT and PE.