Medicine
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Case Reports
Early onset epileptic encephalopathy with a novel GABRB3 mutation treated effectively with clonazepam: A case report.
Early onset epileptic encephalopathy (EOEE) is one of the most serious early onset epilepsies. The etiopathology of this condition remains unclear, and recent evidence indicated that gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 (GABRB3) gene mutations might be associated with EOEE. Furthermore, the therapeutic regimen for EOEE has yet to be well elucidated. Herein, we reported the clinical and genetic features of a case with GABRB3-related EOEE. ⋯ This study identified a novel nonsensemutation (C.5G>A) in the exon 1 of GABRB3 Gene, which may be associated with EOEE. To our knowledge, this is the first report to use clonazepam in the patient with GABRB3-related EOEE with favorable outcome. Our finding suggested that clonazepam might be a choice for patient with GABRB3-related EOEE. The remarkable efficacy of clonazepam in the control of seizures indicated a potential GABRB3- or GABA-related mechanism involved in the development of EOEE.
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Observational Study
Analysis of early death in newly diagnosed acute promyelocytic leukemia patients.
The aim of this study was to identify risk factors for early death (ED) in acute promyelocitic leukemia (APL) patients. Clinical records of 49 APL patients who suffered ED were divided into 4 groups: death before treatment or within the first 3 days (immediate death; iED group), death during treatment at least 3 days after commencement (ED after treatment), low/intermediate risk, and high-risk groups. White blood cell (WBC) count, high-risk cases, prothrombin time (PT) prolongation, international society on thrombosis and hemostasis (ISTH) scores (P < .05), bleeding (P = .05), and death due to severe hemorrhage (P = .010) were higher in iED group than ED after treatment. ⋯ We found that different types of EDs have different clinical features. A high WBC count contributes to the occurrence of more ED, which is usually not associated with delay of diagnosis and hospitalization. Current therapeutic strategies to reduce the incidence of ED in these cases are not adequate and will benefit from focused research attention.
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Case Reports
Gait recovery by activation of the unaffected corticoreticulospinal tract in a stroke patient: A case report.
A 50-year-old man presented with complete paralysis at the onset of a putaminal hemorrhage. ⋯ To the best of our knowledge, this is the first study to demonstrate the activation process of the CRT in the unaffected hemisphere in relation to gait recovery from early to chronic stage of stroke.
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Observational Study
Clinical and microbiological characteristics of vancomycin-resistant Enterococcus faecium bloodstream infection in Central Taiwan.
Bloodstream infections (BSIs) due to vancomycin-resistant Enterococcus faecium (VREfae) remain a therapeutic challenge. This study aimed to evaluate mortality from BSIs due to VREfae in Central Taiwan. We retrospectively analyzed patients with significant VREfae BSIs in the Changhua Christian Hospital System between January 1, 2010 and December 31, 2014. ⋯ The multivariate logistic regression analysis showed that the onset of VREfae BSI in the ICU (odds ratio [OR] = 4.2, 95% confidence interval [CI] = 1.7-10.0, P = .002) was a significant risk factor for 30-day mortality, whereas an appropriate antimicrobial therapy was a protective factor for 30-day mortality (OR = 0.33, 95% CI = 0.14-0.79, P = .013). Our results underscore the need to assist patients who are admitted to ICUs with VREfae BSIs. We emphasize the use of an appropriate antimicrobial therapy for VREfae BSI with the aim to treat more patients with these infections.
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The etiology of acute lymphoblastic leukemia (ALL) is complex, linked with both environmental exposures and genetic factors. Functional variants of the methylenetetrahydrofolate reductase (MTHFR) gene result in disturbance in folate metabolism and may affect susceptibility to cancer. The study was performed to evaluate whether MTHFR C677T and A1298C polymorphisms, analyzed separately and together, are associated with the development of ALL in a population under 18 years of age of Caucasian ancestry. ⋯ The observed frequency of carriers of this rare haplotype was 12%, including 677CT/1298CC (1.7%), 677TT/1298AC (6.0%), and 677CT/1298AC (4.3%) genotypes. The MTHFR 677T allele alone or in combination with the MTHFR 1298C allele significantly increases the risk of development of ALL in Polish population under 18 years of age. Further studies of haplotype composition in subjects with the 677CT/1298AC genotype are necessary to assess the risk of childhood ALL.