RESUMO
Objective:To conduct the genetic analysis of a family with one patient suffering from juvenile Parkinson's disease(JP)and discuss the clinical manifestations,genetic mutation characteristics,and treatment plans prompted by PRKN gene compound heterozygous mutations,and to enhance the clinicians'awareness of this disease.Methods:The clinical data of one patient with JP caused by PRKN gene mutations was analyzed,the clinical manifestations and genetic mutation features of the patient were summarized,and the related literatures were reviewed.Results:The patient,a 16-year-old male,was admitted to the hospital due to unstable gait,trembling limbs with rigidity in both lower limbs for three years.The examination results revealed a panic gait,clear consciousness,fluent speech,normal muscle strength in limbs,increased"gear-like"muscle tone in both upper limbs,and"lead-pipe"rigidity in both lower limbs;the sensory functions and tendon reflexes were normal.The head,neck,and thoracic magnetic resonance imaging(MRI)results showed no abnormalities.18F-fluorodeoxyglucose(18F-FDG)positron emission tomography/computed tomography(PET/CT)results showed that the head size and shape were normal,the glucose metabolism in the left cerebellum and middle temporal gyrus was slightly decreased,and the glucose metabolism in bilateral thalami,right frontal lobe,parietotemporal lobe,and left medial frontal lobe was increased.The dopamine transporter(DAT)PET/CT results showed that there was no radioactive distribution in the brain cortex and the DAT distribution in the posterior part of both striata was decreased.The whole-exome sequencing results showed the patient had two PRKN gene mutations,such as codons c.8T>A and c.850G>C compound heterozygous mutations,and each mutation was from one parent;the patient's father carried the c.8T>A mutation,the patient's mother carried the c.850G>C mutation,and the patient's sister had the same genetic mutation site as the patient's father.Conclusion:PRKN gene compound heterozygous mutations may be the basis of the disease in this family.Identification of the mutation c.8T>A expands the mutation spectrum of the PRKN gene,and provides the valuable information for the research on the pathogenic genetic mutations of the JP patients.
RESUMO
Objective:The authors introduced the change point analysis of normal distribution based on the likelihood ratio principle, analyzed the number of outpatients in a hospital of Luohu District, Shenzhen, to provide scientific basis for rational allocation of health resources.Methods:The authors collected totally 636 number of outpatients' data from 8: 00 to 12: 00 a.m. at 48 time windows at 5 minutes intervals in a hospital of Luohu District, Shenzhen, and analyzed it with single change point analysis of simultaneous change of mean and variance, and discussed when the change point occurred.Results:The average number of outpatient was 13.250 0 for every time window, the change point occurred at 8: 50, the probability was 0.000 025, the average number of outpatient per 5 minutes from 8: 00 to 8: 50 was 7.000 0, the average number of outpatient per 5 minutes from 8: 50 to 12: 00 was 14.897 4, and the ratio of number of outpatients before and after the change point occurred was 1∶2.Conclusion:In the case of no need to determine the base period or compare the data, the change point analysis of normal distribution based on the principle of likelihood ratio provides a new way of statistical analysis and statistical monitoring for the rational allocation of health resources based on the number of patients.