Hyperbaric oxygen ameliorated the lesion scope and nerve function in acute spinal cord injury patients: A retrospective study.

OBJECTIVE: This is a retrospective study to assess the therapeutic effect of hyperbaric oxygen (HBO) in early treatment of acute spinal cord injury (SCI) using magnetic resonance imaging (MRI) and electrophysiology in diagnosing. METHODS: Forty acute SCI patients from Sun Yat-Sen Memorial Hospital who were assigned into HBO treatment were included during August 2013 to October 2014.The patients with adverse reactions or contraindications for HBO were assigned as controls. Both of two groups (HBO and Control) received medicine treatment with Urbason, GM-1 and mecobalamine after surgery. ASIA and the Frankel scores were used to evaluate the therapeutic effect of HBO at the 15th and 30th day after HBO treatment by using MRI and electrophysiology features. RESULTS: Significant therapeutic effect of HBO treatment on acute SCI patients was observed compared with the control group (P<0.05). Comparison for ASIA and Frankel scores showed that motor and neurological functions were significantly improved in HBO group at day 15 and day 30 post treatment. MRI images showed that the grade III injury in HBO group was significant lower than the control group. In comparison with the control, the peak of somatosensory evoked potential (SEP) and motor evoked potential (MEP) amplitude increased, the latency was shortened, and the conduction velocity of sensory nerve (SCV) and motor nerve (MCV) was significantly increased in the HBO group (P<0.05). CONCLUSIONS: HBO treatment has a great efficacy in acute SCI patients. HBO therapy at early stage of acute SCI is beneficiary to the recovery.

[Alpha-galactosidase A gene mutation in a Chinese family with Fabry disease mimicking clinical features of hypertrophic cardiomyopathy].

OBJECTIVE: To screen gene mutation in alpha-galactosidase A (alpha-Gal A) in a nonconsanguineous Chinese family with Fabry disease (FD) with clinical manifestations similar to hypertrophic cardiomyopathy (HCM). METHODS: Mutation analysis was performed by using purified PCR products to direct sequence analysis on an ABI-377XL automated DNA sequencer. DNA analysis of alpha-Gal A gene and physical and clinical examinations were performed in a female proband and in her relatives (15 subjects in total). RESULTS: Three hemizygotes and 6 heterozygotes were diagnosed for FD by the alpha-Gal A gene analysis with a missense mutation in exon 5 of the alpha-Gal A sequence, leading to a TGG32TGA substitution, which may induce the absent of tryptophan's translation (corresponded to TGG) by the terminator codon TGA. Six patients in the family were revealed as HCM by echocardiography. CONCLUSIONS: Present results show that it is important to differentiate FD from other causes of hypertrophy in patients with cardiac hypertrophy. Screening for alpha-Gal A gene mutations in patients with FD and in their relatives could help to identify all suspected cases within the families.