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OBJECTIVE@#To conduct clinical and genetic analysis of two male patients with atypical Rett syndrome.@*METHODS@#Collection of clinical data in the two patients and these parents; whole exome sequencing (WES) was used to detect the potential variants, which were verified by Sanger sequencing. X chromosome inactivation (XCI) detection is performed in the Patient 1's mother to detect the allelic expression difference of the MECP2 gene.@*RESULTS@#Patient 1, a 5-year and 10-month-old boy, had mental disorders and mild intellectual disability (ID) (IQ: 54), whose mother had ID. Patient 2 was a 9-month and 18-day-old male presented with recurrent infections, respiratory insufficiency, hypotonia and global developmental delay. WES indentified a hemizygous mutation, c.499C>T (p.R167W), in the MECP2 gene in patient 1, which was inherited from his mother. The inactivation of X chromosome is skewed, and the expression ratio of wild-type and mutant MECP2 is 100%:0. Patient 2 was found a de novo splicing mutation, c.62+2_62+3del in the MECP2 gene. They were both reported pathogenic variant related to Rett syndrome. c.499C>T (p.R167W) was defined as likely pathogenic (PS1+PM2+PP3) and c.62+2_62+3del was pathogenic (PVS1+PM2+PM6) based on American College of Medical Genetics and Genomics standards and guidelines.@*CONCLUSION@#Both the two patients were diagnosed with rare male Rett syndrome, which had atypical clinical manifestations and large difference. Above foundings have revealed novel phenotypes in Chinese male patients with Rett syndrome.
Subject(s)
Female , Humans , Male , Craniosynostoses , Genetic Testing , Intellectual Disability/genetics , Methyl-CpG-Binding Protein 2/genetics , Mutation , Phenotype , Rett Syndrome/geneticsABSTRACT
BACKGROUND:Monoaxial pedicle screws are not conducive to the instal ation during percutaneous pedicle screw technique, but it has better mechanical conductivity and stability than polyaxial pedicle screws. How to select and use these two kinds of screws in the clinic to exert their advantages and to further elevate efficacy has become a subject worthy of reflection. OBJECTIVE:To compare the clinical efficacy of percutaneous pedicle screw placement for thoracolumbar fracture using monoaxial and polyaxial pedicle screws at different placement selections. METHODS:A total of 46 cases of thoracolumbar fracture without neurological symptoms underwent minimal y invasive percutaneous pedicle screw fixation. 25 patients (monoaxial screw group) were treated with monoaxial pedicle screws and the other 21 ones (polyaxial screw group) with polyaxial pedicle screws. Kyphotic angle, correction rate, correction loss rate and height of injury vertebrae were compared before and after fixation in both groups. The therapeutic effects of monoaxial and polyaxial percutaneous pedicle screw fixation in the treatment of thoracolumbar fractures were evaluated. RESULTS AND CONCLUSION:(1) Fixation time, blood loss, complication and hospital stay were not significantly different in both groups (P>0.05). (2) Kyphotic angle and height of the fractured vertebra body were significantly different between the two groups (P0.05). (4) These findings indicate that compared with the polyaxial percutaneous pedicle screw fixation, the monoaxial pedicle screw may be preferable in percutaneous pedicle screw fixation for thoracolumbar fractures, has more satisfactory fracture distraction reduction, and has less postoperative correction loss rate.
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Objective To evaluate the clinical results of self-designed double-pivot extracorporeal reduction device in internal fixation with percutaneous pedicle screws for thoracolumbar fractures.Methods From January 2014 to May 2015,a total of 41 patients with thoracolumbar fracture without neurological symptoms underwent minimally invasive fixation with percutaneous pedicle screws.Of them,22 were treated with our self-designed double-pivot extracorporeal reduction device and the other 20 with common single-pivot extracorporeal reduction device.The 2 groups were compared in terms of pre-and postoperative kyphotic angles,correction rates and anterior,middle and posterior heights of injured vertebrae to evaluate the therapeutic effects of the self-designed double-pivot extracorporeal reduction device.Results The patients were followed up for 6 to 18 months (average,12.3 months).No iatrogenic impairment of nerve root,postoperative infection,or implant failure happened.Compared with preoperation,significant improvements were observed in all the patients regarding cobb's angle,anterior,middle and posterior heights of the fractured vertebral body (P ＜ 0.05).Compared with the single-pivot group,the double-pivot group were significantly superior in the kyphotic angle,correction rate,and anterior and middle heights of the injured vertebrae(P ＜ 0.05),but there was no significant difference between the 2 groups in the recovery of posterior height of the fractured vertebral body (P ＞ 0.05).Conclusion Compared with the single-pivot reduction device,the self-designed double-pivot reduction device may be preferable in percutaneous pedicle screw fixation for thoracolumbar fractures.
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Exogenous surfactant replacement has been successfully achieved and become standard therapy in neonatal respiratory distress syndrome,but clinical trials in acute respiratory distress syndrome (ARDS) had mixed results.Early studies show that pulmonary surfactant(PS) administration in ARDS can significantly improve oxygenation and decrease mortality,but in recent years,some clinical trials haven't achieve the most substantial benefits to long-term patient outcomes.The inconsistent results of clinical trials may have related to aspects of drug composition,dosing,delivery,and timing.At this time,surfactant therapy cannot be recommended as routine therapy in pediatric ARDS.