ABSTRACT
Objective@#To explore the genetic basis of a patient featuring global developmental delay, intellectual disability, cleft palate, seizures and hypotonia.@*Methods@#Clinical examination and laboratory tests were carried out. Peripheral blood samples were obtained from the patient and his parents. Whole genomic DNA was extracted and subjected to next generation sequencing. Candidate variation was analyzed by using bioinformatic software and validated by Sanger sequencing.@*Results@#The proband was found to carry a heterozygous c. 2117T>C (p.Leu706Pro) variant of the NEDD4L gene, which was a de novo variant validated by Sanger sequencing and predicted to be likely pathogenic according to the American College of Medical Genetics Guidelines.@*Conclusion@#The heterozygous variant of c. 2117T>C (p.Leu706Pro) of the NEDD4L gene probably underlies the disorders in the patient.
ABSTRACT
OBJECTIVE@#To explore the genetic basis of a patient featuring global developmental delay, intellectual disability, cleft palate, seizures and hypotonia.@*METHODS@#Clinical examination and laboratory tests were carried out. Peripheral blood samples were obtained from the patient and his parents. Whole genomic DNA was extracted and subjected to next generation sequencing. Candidate variation was analyzed by using bioinformatic software and validated by Sanger sequencing.@*RESULTS@#The proband was found to carry a heterozygous c.2117T>C (p.Leu706Pro) variant of the NEDD4L gene, which was a de novo variant validated by Sanger sequencing and predicted to be likely pathogenic according to the American College of Medical Genetics Guidelines.@*CONCLUSION@#The heterozygous variant of c.2117T>C (p.Leu706Pro) of the NEDD4L gene probably underlies the disorders in the patient.
Subject(s)
Humans , Male , Genetic Testing , Heterozygote , Intellectual Disability , Genetics , Mutation , Nedd4 Ubiquitin Protein Ligases , Genetics , Periventricular Nodular Heterotopia , GeneticsABSTRACT
Human body structure,as a national excellent course,is a professional basic course for the students in medical related majors.After years of teaching practice,many teaching experience are collected,however,some problems in teaching practice still occurre such as how to carry out teaching methods specific for different majors,how to accomplish the course for teachers and how to grasp the macro-and micro-cosmic human structures for students in fewer class hours,and how to improve the students' self-regulation of learning.Aiming at the problems above,the human body structure teaching team improves teaching methods,teaching content and assessment system,and effectively enhance the teaching effectivene.
ABSTRACT
Objective To evaluate the effect of therapeutic communication on negative emotion and quality of life of stoke patients. Methods A total of 120 stroke patients were divided into the control group and the observation group equally. The former received routine nursing and the latter routine nursing plus therapeutic communication. After 4 weeks, they were evaluated by self-rating anxiety scale (SAS), self-rating depressive scale (SDS), trait coping style questionnaire (TCSQ) and the short-form health survey-36 (SF-36). Results After the intervention, the scores on anxiety, depression and negative coping in the observation group were lower than those in the control group (P<0.01), while the scores on positive coping and quality of life were higher in the observation group than those in control group (P<0.01). Conclusion Therapeutic communication can effectively improve stroke patients′negative emotion and quality of life.