Medicine
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Comparative Study
Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II.
Diagnosis of Crigler-Najjar syndrome type II (CNS-II) and Gilbert syndrome (GS) based on the serum bilirubin concentration is difficult, because this parameter can fluctuate under certain conditions. The aim of this study was to explore differences in UGT1A1 gene mutations, which cause both CNS and GS, and pathological changes between CNS-II and GS. Ninety-five Chinese patients with hereditary unconjugated hyperbilirubinemia were enrolled in this study. ⋯ G71R and p. Y486D, were more strongly associated with CNS-II. Iron deposition was more common in liver biopsies from patients with CNS-II than in those with GS.
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Treatment of breast cancer during pregnancy (BCP) remains a challenge to physicians. Surgery and chemotherapy during pregnancy are widely used for the treatment of BCP. Herein, we reported 3 Chinese patients with BCP who underwent chemotherapy during pregnancy and were followed up for adverse effects. ⋯ Both patients and infants well tolerated the combination chemotherapy of epirubicin and paclitaxel during pregnancy. There were few drug toxicities and adverse effects.
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Case Reports
Degeneration of paramedian nuclei in the thalamus induces Holmes tremor in a case of artery of Percheron infarction.
Holmes' tremor is an uncommon neurologic disorder following brain insults, and its pathogenesis is undefined. The interruption of the dento-rubro-thalamic tract and secondary deterioration of the nigrostriatal pathway are both required to initiate Holmes' tremor. We used nuclear medicine imaging tools to analyze a patient with concurrent infarction in different zones of each side of the thalamus. Finding whether the paramedian nuclear groups of the thalamus were injured was a decisive element for developing Holmes' tremor. ⋯ Based on the functional images, we illustrated that a retrograde degeneration originating from the thalamic paramedian nuclear groups, and extending forward along the direct innervating fibers of the mesothalamic pathway, played an essential role towards initiating Holmes' tremor.
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The complication of iatrogenic distraction of odontoid fracture after anterior screw fixation has not been reported in the literature. We treated the patient with endoscopically assisted bone grafting with good results. The new technique was not reported in the management of odontoid fracture or nonunion before. ⋯ We reported a case of iatrogenic odontoid distraction that was managed by anterior endoscopically assisted bone grafting. It is a technically feasible and minimally invasive procedure.
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Case Reports
Anterior scleritis following intravitreal injections in a patient with rheumatoid arthritis: A case report.
Surgically induced scleritis is a rare complication following ophthalmologic surgery such as cataract surgery, pterygium excision, strabismus surgery, and retinal detachment repair. Rheumatoid arthritis (RA) is the connective tissue disease most commonly associated with scleritis. ⋯ Surgically induced scleritis can also be induced by not only major surgical trauma but also by relatively minor trauma such as intravitreal injection (especially in patients who have connective tissue disease such as RA).