J Formos Med Assoc
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Review Case Reports
The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature.
The present study included the first case of mucopolysaccharidosis (MPS) type VII in Taiwan. During pregnancy, the patient was diagnosed with hydrops fetalis and had ascites aspiration 4 times. In the following years, she presented gradually with chronic lung disease, developmental delay, short stature, dysmorphic features of coarse face, macroglossia and pigeon chest with scoliosis. ⋯ Afterward, the molecular analysis showed two heterozygous genetic variants of c.104C > A and c.1454C > T in trans in the GUSB gene (NM_000181.4) which were the causes for MPS VII. Then, we checked the leukocyte β-glucuronidase activity for MPS VII and showed extremely low, therefore confirmed the diagnosis. Clinicians should increase the awareness on the early signs of MPS to have a prompt diagnosis and offer the correct treatment like enzyme replacement therapy (ERT) as early as possible.
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Randomized Controlled Trial
Efficacy of a novel walking assist device with auxiliary laser illuminator in stroke Patients~ a randomized control trial.
Task-oriented functional walking is important in stroke patients. We aimed to investigate effects of a quad-cane with auxiliary laser illuminator (laser-cane) among stroke patients. ⋯ Rehabilitation with laser-cane improved the balance, activity of daily living, gait symmetry and gait parameters of stroke patients.
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Respiratory syncytial virus (RSV) is a common cause of childhood pneumonia, but there is limited understanding of whether bacterial co-infections affect clinical severity. ⋯ RSV related bacterial co-infections were not uncommon and assoicated with ICU admission, especially for young children, and more attention should be given. For empirical antibacterial treatment, high-dose amoxicillin-clavulanic acid or ampicillin-sulbactam was recommended for non-severe cases; vancomycin and third-generation cephalosporins were suggested for critically ill patients requiring ICU care.
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In 2019, a large outbreak of a novel coronavirus disease (COVID-19) occurred in China. The purpose of this study is to quantitatively analyze the evolution of chest computed tomography (CT) imaging features in COVID-19. Nine patients with positive real-time reverse-transcriptase polymerase chain reaction results were included in this study. ⋯ Lesion load at the first week of disease was significantly higher in severe group (p = 0.03). Our study revealed that several CT features were significantly different between severely and mildly infected forms of COVID-19 pneumonia. The CT lesion load value at the first week of infection may be applied as an outcome predictor of the disease.
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The risk of hepatocellular carcinoma (HCC) is reduced but not eliminated after nucleos(t)ide analogue (NA) therapy in chronic hepatitis B (CHB). We aimed to investigate the role of serum Prothrombin Induced by Vitamin K Absence or Antagonist-II (PIVKA-II) and alpha-fetoprotein in predicting HCC and mortality in cirrhotic CHB patients at virological remission (VR) following NA therapy. ⋯ In patients with CHB-related cirrhosis, serum alpha-fetoprotein >7 ng/mL and PIVKA-II >50 mAU/mL at the time of antiviral therapy-induced VR is associated with a greater risk of HCC. PIVKA-II is a predictive marker for HCC in patients with low normal alpha-fetoprotein level.