To report a case of Stormorken syndrome(STRMK)diagnosed in adulthood and to study its clinical,pathological and genetic characteristics.The individual was a 31-year-old male whose symptoms started from childhood with epilepsy as initial symptom.He gradually developed progressive muscle weakness and atrophy.The patient's clinical data,laboratory results,and imaging studies were collected.A biopsy on the patient's left gastrocnemius muscle was conducted.Simultaneously,whole-exome sequencing on both the patient and his parents was performed.The physical examination of the patient showed short stature,proximal muscle weakness with lower limb predominance,accompanied by joint contracture and scoliosis.Abdominal CT examination revealed asplenia and magnetic resonance image(MRI)showed obvious fat infiltration in the bilateral lower limb muscle.Muscle biopsy was consistent with tubular-aggregate myopathy.Genetic test indicated that the patient had a c.326A>G(p.His109Arg)heterozygous mutation in the stromal interaction molecule 1(STIM1)gene,a known pathogenic mutation.This study further enables neurologists to gain a better understanding of this rare disease.

To report a case of Stormorken syndrome(STRMK)diagnosed in adulthood and to study its clinical,pathological and genetic characteristics.The individual was a 31-year-old male whose symptoms started from childhood with epilepsy as initial symptom.He gradually developed progressive muscle weakness and atrophy.The patient's clinical data,laboratory results,and imaging studies were collected.A biopsy on the patient's left gastrocnemius muscle was conducted.Simultaneously,whole-exome sequencing on both the patient and his parents was performed.The physical examination of the patient showed short stature,proximal muscle weakness with lower limb predominance,accompanied by joint contracture and scoliosis.Abdominal CT examination revealed asplenia and magnetic resonance image(MRI)showed obvious fat infiltration in the bilateral lower limb muscle.Muscle biopsy was consistent with tubular-aggregate myopathy.Genetic test indicated that the patient had a c.326A>G(p.His109Arg)heterozygous mutation in the stromal interaction molecule 1(STIM1)gene,a known pathogenic mutation.This study further enables neurologists to gain a better understanding of this rare disease.

Objective: To understand the toxicological indexes and indexes factors of drinking water in rural schools in Yunnan Province during 2017-2020, so as to provide scientific basis for ensuring drinking water safety, and targeted intervention in rural schools. Methods: The end water of 456，399，391，387 rural primary and secondary school drinking water supply projects in 129 counties in Yunnan Province was collected from 2017 to 2020, 11 toxicological indexes were analyzed and evaluated. Results: The overall compliance rate of drinking water toxicological indexes in rural primary and secondary schools in Yunnan Province was 99.32 %; The top three indexes exceeding the standard were nitrate nitrogen(0.31%), chloroform (0.15%) and cadmium(0.09%). The difference of compliance rate by year was statistically significant( χ 2=11.04, P <0.05); No difference in compliance rate was found between dry and wet seasons( χ 2=0.05, P >0.05); The rate of the surface water meeting the standard was higher than that of the groundwater( χ 2=9.62, P <0.05). There was no significant difference in the compliance rate between the treated and untreated projects( χ 2=1.55, P >0.05); The daily water supply scale was less than 500 m 3, and the rate of reaching the standard was lower than that of daily water supply is greater than 500 m 3( χ 2=4.27, P <0.05). Conclusion The overall percentage of the toxicological indexes in drinking water exceeding the standard in rural primary and secondary schools in Yunnan Province is low. Nitrate nitrogen, chloroform and cadmium should be considered as the prioritirized pollutants of drinking water in rural schools of Yunnan Province.

Objective To evaluate the neurological function of cervicalspondylotic radiculopathy by somatosensory evoked potentials (SEP) and provide an objective basis for selecting the best operation occasion. Methods 60 patients with C6 and C7 radiculopathies were divided into 3 groups according to the results of SEP: normal group (n=22), mildly abnormal group (n=30) and severely abnormal group (n=8). All the patients underwent anterior cervical decompression and fusion. They were assessed with Neck Disability Index (NDI) before and after treatment. Results The postoperative NDI scores of all the groups improved significantly (P<0.001), especially in the normal group.Conclusion SEP, which can reflect the severity of cervicalspondylotic radiculopathy objectively and predict prognosis.