Two novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine disease.

Intermittent maple syrup urine disease (MSUD) is a potentially life-threatening metabolic disorder caused by a deficiency of branched chain α-ketoacid dehydrogenase (BCKD) complex. In contrast to classic MSUD, children with the intermittent form usually have an atypical clinical manifestation. Here, we describe the presenting symptoms and clinical course of a Chinese boy with intermittent MSUD. Mutation analysis identified two previously unreported mutations in exon 7 of the BCKDHB gene: c.767A > G (p.Y256C) and c.768C > G (p.Y256X); the parents were each heterozygous for one of these mutations. In silico analysis predicted Y256C probably affects protein structure; Y256X leads to a premature stop codon. This case demonstrates intermittent MSUD should be suspected in cases with symptoms of recurrent encephalopathy, especially ataxia or marked drowsiness, which usually present after the neonatal period and in conjunction with infection. symmetrical basal ganglia damage but normal myelination in the posterior limb will assist differential diagnosis; alloisoleucine is a useful diagnostic marker and mutation analysis may be of prognostic value. These novel mutations Y256C and Y256X result in the clinical manifestation of a variant form of MSUD, expanding the mutation spectrum of this disease.

Totally thoracoscopic versus open surgery for closure of atrial septal defect: propensity-score matched comparison.

The purpose of this study is to compare early clinical outcomes of surgical repair for isolated atrial septal defect (ASD) with a totally thoracoscopic approach without robotic assistance versus a conventional open procedure.Between September 2010 and June 2012, 254 consecutive patients with isolated ASD underwent totally thoracoscopic surgery without robotic assistance in seven institutions participating in the nationwide multi-centered registry in China. During the same period, these patients were matched using propensity score methodology with 254 patients who had accepted conventional open surgery through a median sternotomy. The early in-hospital results between the two groups were analyzed and compared.The patient age was 26.8 ± 14.0 years and weight was 52.9 ± 16.9 kg in the totally thoracoscopic group. The totally thoracoscopic surgery required longer aortic clamp time (32.1 ± 17.3 minutes versus 28.3 ± 16.7 minutes, P = .01); shorter length of stay in the intensive care unit (25.3 ± 12.2 hours versus 34.8 ± 24.4 hours, P = .001); shorter length of stay in hospital (6.5 ± 6.3 days versus 7.9 ± 6.4 days, P = .008); and shorter mechanical ventilation time (8.3 ± 5.0 hours versus 11.4 ± 14.8 hours, P = .04). The cardiopulmonary bypass (CPB) time (62.7 ± 29.3 minutes versus 61.5 ± 28.0 minutes, P = .64) showed no significant difference between the two groups. The totally thoracoscopic group had significantly less postoperative chest tube drainage (322.1 ± 213.7 mL versus 462.8 ± 398.4 mL, P = .001). The intraoperative (35.4% versus 38.6%, P = .46) and postoperative blood products usage (20.9% versus 21.3%, P = .91) showed no significant difference between the two groups.There also was no significant difference in mortality and major in-hospital complications between the two groups. The early outcomes for treatment of isolated ASD were similar between the totally thoracoscopic group conventional open operation performed through median sternotomy, despite a longer aortic clamp time in the totally thoracoscopic group.

Morroniside alleviates lipopolysaccharide-induced inflammatory and oxidative stress in inflammatory bowel disease by inhibiting NLRP3 and NF-l=kB signaling pathways

Objective To investigate the effects of morroniside on inflammatory and oxidative stress in lipopolysaccharide (LPS)-induced inflammatory bowel disease (IBD) cell model. Methods NCM460 cells were treated with 2-, 5-, or 10-μg/mL LPS for 24 h to develop an IBD cell model. MTT (3-(4, 5-dimethylthiazolyl-2)-2, 5-diphenyltetrazolium bromide) colorimetric assay was performed to uncover the role of morroniside on the viability of LPS-treated NCM460 cells. Flow cytometry and immunoblot assays were performed to confirm the effects of morroniside on the apoptosis of LPS-treated NCM460 cells. Quantitative polymerase chain reaction and enzyme-linked-immunosorbent serologic assays were performed to confirm the effects of morroniside on inflammatory and oxidative stress by measuring the levels of tumor necrosis factor-α, interleukin-1β, IL-6, superoxide dismutase, malondialdehyde, total antioxidant capacity, and myeloperoxidase. In addition, immunoblot and immunofluorescence assays were performed to detect the effects of morroniside on NLRP3 and NF-κB pathways. Results Monosine attenuated LPS-induced injury of NCM460 cells. Monosine reduced LPS-induced inflammation in NCM460 cells. In addition, morroniside reduced LPS-induced oxidative stress in NCM460 cells. Mechanically, morroniside suppressed NLRP3 and NF-κB pathways, and alleviated LPS-induced inflammatory and oxidative stress in IBD. Conclusion Morroniside could serve as a promising drug for treating IBD (AU)