A missense mutation in human INSC causes peripheral neuropathy.

PAR3/INSC/LGN form an evolutionarily conserved complex required for asymmetric cell division in the developing brain, but its post-developmental function and disease relevance in the peripheral nervous system (PNS) remains unknown. We mapped a new locus for axonal Charcot-Marie-Tooth disease (CMT2) and identified a missense mutation c.209 T > G (p.Met70Arg) in the INSC gene. Modeling the INSCM70R variant in Drosophila, we showed that it caused proprioceptive defects in adult flies, leading to gait defects resembling those in CMT2 patients. Cellularly, PAR3/INSC/LGN dysfunction caused tubulin aggregation and necrotic neurodegeneration, with microtubule-stabilizing agents rescuing both morphological and functional defects of the INSCM70R mutation in the PNS. Our findings underscore the critical role of the PAR3/INSC/LGN machinery in the adult PNS and highlight a potential therapeutic target for INSC-associated CMT2.

Effects of bronchoalveolar lavaging of fiberoptic bronchoscopy for the serum PCT and CRP of patients with severe VAP / 中国医学装备

Objective:To observe the effect of bronchoalveolar lavaging of fiberoptic bronchoscopy for the serum procalcitonin (PCT) and C-reactive protein (CRP) of patients with severe ventilator-associated pneumonia (VAP). Methods: 70 patients with severe VAP were enrolled in the retrospective study and were divided into observation group (35 cases) and control group (35 cases). Patients of observation group received the treatment of bronchoalveolar lavaging of fiberoptic bronchoscopy, and patients of control group received the treatment of routine bronchoalveolar lavaging combined with suctioning. The control time of pulmonary infection, therapy time of mechanical ventilation, time of bringing down fever, white blood cell count and clinical pulmonary infection score (CPIS) of the two groups were compared and analyzed. Besides, the changes of respiratory functional indicator, blood and respiration indicator, the expression of serum CRP and PCT of the two groups at pre-and post treatment were compared.Results:The control time of pulmonary infection, therapy time of mechanical ventilation and time of bringing down fever of observation group were significantly shorter than that of control group (t=12.954,t=13.124,t=11.062,P<0.05). And both of the white blood cell count and CPIS of observation group were significantly lower than that of control group (t=11.804,t=11.342,P<0.05). Besides, all of these indicators including DLC, Raw, PIP, WOB, PaO2, PaO2/FiO2 and PaCO2 of two groups were obviously improved while these results of observation group were significantly better than that of control group (t=9.324, 8.653, t=10.122,t=8.154,t=9.530,t=9.691,t=10.012,P<0.05). And both of the expression of CRP and PCT of the two groups were obviously reduced, and the results of observation group were significantly better than that of control group (t=15.358, t=13.157,P<0.05).Conclusion: Bronchoalveolar lavaging of fiberoptic bronchoscopy can significantly improve the respiratory function index, blood and respiration indicator and can reduce the expression level of serum CRP and PCT for patients with VAP, and its curative effect is remarkable.

Effects of bronchoalveolar lavaging of fiberoptic bronchoscopy for the serum PCT and CRP of patients with severe VAP / 中国医学装备

Objective:To observe the effect of bronchoalveolar lavaging of fiberoptic bronchoscopy for the serum procalcitonin (PCT) and C-reactive protein (CRP) of patients with severe ventilator-associated pneumonia (VAP). Methods: 70 patients with severe VAP were enrolled in the retrospective study and were divided into observation group (35 cases) and control group (35 cases). Patients of observation group received the treatment of bronchoalveolar lavaging of fiberoptic bronchoscopy, and patients of control group received the treatment of routine bronchoalveolar lavaging combined with suctioning. The control time of pulmonary infection, therapy time of mechanical ventilation, time of bringing down fever, white blood cell count and clinical pulmonary infection score (CPIS) of the two groups were compared and analyzed. Besides, the changes of respiratory functional indicator, blood and respiration indicator, the expression of serum CRP and PCT of the two groups at pre-and post treatment were compared.Results:The control time of pulmonary infection, therapy time of mechanical ventilation and time of bringing down fever of observation group were significantly shorter than that of control group (t=12.954,t=13.124,t=11.062,P<0.05). And both of the white blood cell count and CPIS of observation group were significantly lower than that of control group (t=11.804,t=11.342,P<0.05). Besides, all of these indicators including DLC, Raw, PIP, WOB, PaO2, PaO2/FiO2 and PaCO2 of two groups were obviously improved while these results of observation group were significantly better than that of control group (t=9.324, 8.653, t=10.122,t=8.154,t=9.530,t=9.691,t=10.012,P<0.05). And both of the expression of CRP and PCT of the two groups were obviously reduced, and the results of observation group were significantly better than that of control group (t=15.358, t=13.157,P<0.05).Conclusion: Bronchoalveolar lavaging of fiberoptic bronchoscopy can significantly improve the respiratory function index, blood and respiration indicator and can reduce the expression level of serum CRP and PCT for patients with VAP, and its curative effect is remarkable.