Medicine
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Case Reports
A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer: A case report.
Gaucher disease (GD) is an autosomal recessive disorder that leads to multiorgan complications caused by β-glucocerebrosidase deficiency due to mutations in the β-glucocerebrosidase-encoding gene (GBA). GD morbidity in Japan is quite rare and clinical phenotype and gene mutation patterns of patients with GD in Japan and Western countries differ considerably. Of Japanese patients with GD, 57% develop types 2 or 3 GD with neurologic manifestations and younger onset, whereas only 6% of patients with GD develop those manifestations in Western countries. Thus, it is relatively difficult to find and diagnose GD in Japan. ⋯ This is the first report of F-FDG PET/CT application providing a clue for GD diagnosis. A novel mutation in GBA is described, which implies a potential pool of patients with GD with this mutation in Japan.
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Myelodysplastic syndrome (MDS) is a heterogeneous malignant hematologic disease with median overall survival ranging from six months to more than ten years. Solid tumor rarely occurs in combination with MDS and the underlying pathogenesis and prognostic significance still remain controversial. ⋯ We reviewed the mechanism of MDS complicated by solid tumor and concluded the potential mechanisms of this patient. The interactions between potential factors may play a role in oncogenesis which, however, need an in-depth study of its operating mechanism.
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The duplex ureter is a common anomaly of urinary tract, but preoperative sonography, plain abdominal radiography, or nonenhanced computed tomography (CT) often overlooked it when involved with urinary tract obstruction. In this report, We present a rare case of left Y-shaped bifid ureter and both ureter of upper moiety and common stem were obstructed respectively by 2 calculi. ⋯ Contrast-enhanced CT should be recommended prior to any surgical procedures involved with upper urinary tract to exclude duplex ureter.
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Hyperbaric oxygen therapy (HBOT) has been widely used in the clinical setting. In this study, HBOT therapy was evaluated for its ability to ameliorate the epithelial-to-mesenchymal transition (EMT) phenomenon in keloid tissue. ⋯ The expression levels of factors related to the EMT phenomenon were significantly reversed in keloid patients after they received HBOT, indicating that HBOT may be an effective therapy against the EMT phenomenon in keloid patients.
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Sudden cardiac arrest (SCA) is a significant medical and social issue, the main cause of death in Europe and the United States. The aim of the research was to evaluate the effectiveness of emergency medical procedures applied by emergency medical teams in prehospital care in the context of return of spontaneous circulation (ROSC). The case-control study was based on the medical documentation of the Rescue Service in Katowice (responsible for monitoring 2.7 million inhabitants of the region) referring to 2016. ⋯ The ROSC rate was higher in the group of patients with diagnosed VF than in those with nonshockable rhythms (VF, 55.43% vs asystole, 24.05%; P = .000). Successful resuscitation depends on the quality of emergency medical procedures performed at the place of incident. The highest probability of ROSC is related with defibrillation (in the cases of VF or ventricular tachycardia with no pulse), intubation, the application of a respirator, and performing mechanical ventilation, as well as with a shorter time from dispatch to arrival.