Medicine
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Monosialotetrahexosylganglioside (GM1) gangliosidosis is a rare lysosomal storage disorder caused by the deficiency of ß-galactosidase. Because clinical symptoms of GM1 gangliosidosis overlap with other neurodevelopmental disorders, the diagnosis of this disease is not easy, specifically in late infantile GM1 gangliosidosis. This report described a case of late-infantile GM1 gangliosidosis mistaken for juvenile idiopathic arthritis. ⋯ Late infantile GM1 gangliosidosis should be considered in the differential diagnosis of progressive neurologic decline and skeletal dysostosis.
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Chemical pleurodesis is performed in pneumothorax patients to treat nonresolving air leakage or prevent recurrence. However, factors that might predict the need for chemical pleurodesis remain unknown. Therefore, this study investigated predictive factors for the application of chemical pleurodesis for pneumothorax. ⋯ With a score of 2 as the cutoff value, the sensitivity was 91.0% and the specificity was 52.4%. In a comparison between the pleurodesis and surgical groups, the predicting score showed the high AUC of 0.904 (95% confidence interval: 0.863-0.945). This study reveals predictive factors for the application of chemical pleurodesis and provides a predictive score including 3 factors.
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The nature of pharyngeal swallowing function during the course of recovery of dysphagia due to lateral medullary syndrome (LMS) is unclear. Vacuum swallowing is a compensatory swallowing method that improves the pharyngeal passage of a bolus by creating negative pressure during swallowing in the esophagus in patients with dysphagia due to LMS. We present a case involving a patient with dysphagia due to LMS who involuntarily acquired a swallowing method with prolonged and increased pharyngeal contraction and vacuum swallowing. ⋯ The findings in this case indicate that vacuum and prolonged swallowing may be compensatory swallowing methods observed in individuals recovering from dysphagia due to LMS. Further research is needed to clarify the relationship between these swallowing methods and the pathophysiology, prognosis, and treatment of dysphagia in patients with LMS.
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Case Reports
A novel frameshift c.22_25dupGCAT mutation of the NDP gene in a Chinese infant with Norrie disease: A case report.
Norrie disease (ND) is a rare X-linked recessive disease characterized by bilateral congenital blindness and auditory impairments. According to the previous studies, Norrin cystine knot growth factor (NDP) gene have been found to be responsible for ND. Herein, we report a case of ND with a novel mutation in NDP and elucidate the clinical and molecular characteristics of this patient. ⋯ A novel causative mutation of NDP was identified using next-generation sequencing. Our report expands the pathogenic mutation spectrum of NDP and facilitates genetic counseling and prenatal diagnosis. Additionally, we emphasize the importance of molecular genetic testing in the diagnosis of ND.
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New-onset scoliosis in adults is different from that in congenital and idiopathic scoliosis. We applied personalized custom 3D printed orthopedic braces combined with traditional manipulative physiotherapy to treat adult patients with new-onset scoliosis and observed the effectiveness of the treatment. ⋯ The customized 3D printed orthopedic brace combined with traditional techniques to treat scoliosis and innovatively combined human bionic technology with traditional medicine to achieve the continuity and precise correction of scoliosis treatment is a clinically effective technique.