We retrospectively analyzed a child with early-onset globoid cell leukodystrophy(Krabbe's disease)caused by complex heterozygous variations in the GALC gene.The girl was admitted to the hospital at the age of 4 month with main complaints of"No obvious cause of milk refusal,poor mental state,drowsiness,convulsions,fever."Brain MRI showed abnormal symmetric signals changes in bilateral cerebellar hemispheres,bilateral internal capsule hind limbs and bilateral ventricles,thin corpus callosum,myelination process lags behind the level of children of the same age.High-throughput sequencing analysis identified compound heterozygous mutations in GALC gene(NM 000153.4):c.[908+1G>A];[194G>A and the two heterozygous mutations were correspondingly inherited from his father and mother,respectively.The application of high-throughput sequencing technology can diagnose Krabbe disease efficiently and accurately,which assists in clinical identification and diagnosis.

ObjectiveTo explore the mental health status and its influencing factors among middle school students in Xide County， Liangshan Yi Autonomous Prefecture， and to provide references for mental health interventions for local middle school students. MethodsUsing a cross-sectional study design， one junior middle school and one senior middle school in Xide County， Liangshan Prefecture， Sichuan Province， were randomly selected on September 16， 2021， and two classes per grade in each school involving 288 students were recruited. Subjects were assessed using Patients' Health Questionnaire Depression Scale-9 item （PHQ-9）， Generalized Anxiety Disorder Scale-7 item （GAD-7）， PTSD Checklist for DSM-5 （PCL-5）， Multidimensional Scale of Perceived Social Support （MSPSS） and UCLA Loneliness Scale （ULS-3）. Then the scores of above scales were compared among middle school students with different demographic characteristics， and binary Logistic regression analysis was conducted to screen the influencing factors of post-traumatic stress disorder (PTSD） symptoms. ResultsAmong the respondents， 17.71% （95% CI： 0.133~0.221）， 8.68% （95% CI： 0.054~0.120）， 2.78% （95% CI： 0.009~0.047） and 45.83% （95% CI： 0.400~0.516） were reported to have symptoms of depression， anxiety， PTSD and loneliness， respectively. Students in senior middle school scored lower on PCL-5 and ULS-3 than those in junior middle school ［（6.46±8.91） vs. （8.87±9.42）， t=2.202， P<0.05； （4.67±1.65） vs. （5.60±1.88）， t=4.431， P<0.01］. Regression analysis denoted that depressive symptoms （OR=7.630， P<0.05） and anxiety symptoms （OR=3.789， P<0.01） were risk factors for PTSD symptoms among middle school students. ConclusionThe middle school students in Xide County， Liangshan Yi Autonomous Prefecture suffer a high prevalence rate of depressive symptoms and loneliness， and those in junior middle school are more likely to feel a sense of strong loneliness， furthermore， depressive symptoms and anxiety symptoms are risk factors for PTSD symptoms.

OBJECTIVE: To explore the genetic etiology for a fetus with Walker-Warburg syndrome(WWS). METHODS: A fetus with WWS diagnosed at Gansu Provincial Maternity and Child Health Care Hospital in June 9, 2021 was selected as the study subject. Genomic DNA was extracted from amniotic fluid sample of the fetus and peripheral blood samples from its parents. Trio-Whole exome sequencing (trio-WES) was carried out. Candidate variants were verified by Sanger sequencing. RESULTS: The fetus was found to harbor compound heterozygous variants of the POMT2 gene, namely c.471delC (p.F158Lfs*42) and c.1975C>T (p.R659W), which were respectively inherited from its father and mother. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), they were respectively rated as pathogenic (PVS1+PM2_Supporting+PP4) and likely pathogenic (PM2_Supporting+PM3+PP3_Moderate+PP4). CONCLUSION Trio-WES may be used for the prenatal diagnosis of WWS. The compound heterozygous variants of the POMT2 gene probably underlay the disorder in this fetus. Above finding has expanded the mutational spectrum of the POMT2 gene and enabled definite diagnosis and genetic counseling for the family.
Pregnancy ; Child ; Female ; Humans ; Walker-Warburg Syndrome ; Prenatal Diagnosis ; Fetus ; Genetic Counseling ; Genomics ; Mutation

Objective:To investigate the effect of radiofrequency radiation (RF) from 5G mobile phone communication frequency bands (3.5 GHz and 4.9 GHz) on the permeability of the blood-brain barrier (BBB) in mice.Methods:A total of 24 healthy adult male C57BL/6 mice (6-8 weeks old) were randomly divided into Sham, 3.5 GHz RF and 4.9 GHz RF groups, and 8 mice in each group. Mice in the RF groups were systemically exposed to 5G cell phone radiation for consecutive 35 d(1 h/d) with 50 W/m 2 power density. The BBB permeability of mice was detected by Evans Blue (EB) fluorescence experiment. The expression levels of the BBB tight junction-related proteins (ZO-1, occludin and claudin-11) and the gap junction-related protein Connexin 43 were determined by Western blot. Results:The number of spots, fluorescence intensity and comprehensive score of EB were significantly increased in 3.5 GHz RF group and 4.9 GHz RF group compared with the Sham group ( t=12.98, 17.82, P<0.001). Compared with the Sham group, the content of S100B in mouse serum was significantly increased in 3.5 GHz RF group and 4.9 GHz RF group ( t=19.34, 14.68, P<0.001). The BBB permeability was increased in the RF group. The expression level of occludin protein was significantly reduced in the 3.5 GHz RF group ( t=-3.13, P<0.05), and this decrease was much profound in the 4.9 GHz RF group ( t=-6.55, P<0.01). But the protein levels of ZO-1, Claudin-11 and Connexin 43 in the cerebral cortex of the RF groups had no significantly difference in comparison with the Sham group( P>0.05). Conclusions:The continuous exposure of mobile phone RF at 3.5 GHz or 4.9 GHz for 35 d (1 h/d) induces an increase of BBB permeability in the mouse cerebral cortex, perhaps by reducing the expression of occludin protein.

Objective:To investigate the pelvic floor muscle functioning of persons with pelvic floor dysfunction (PFD) at different ages in order to provide a reference for clinical treatment.Methods:A total of 580 PFD patients were divided into group A ( n=163, ≤29 years old), Group B ( n=161, 30-39), Group C ( n=114, 40-49), Group D ( n=128, 50-59) and Group E ( n=14, ≥60 years old). All were given a surface electromyography (sEMG) examination of their pelvic floor muscles. Average sEMG amplitude and its variability were recorded in the pre-resting and post-resting stages. The maximum sEMG amplitude and its rise time and recovery time during rapid contraction of pelvic floor muscles were recorded. Average sEMG amplitude and variability were also recorded during slow muscle contraction. The observations were correlated with the age. Results:Significant differences among the 5 groups were found in all of the measurements. Spearman correlation analysis showed that age was positively correlated with the variation in the sEMG amplitudes in the pre-resting stage, with the rise time and with the recovery time. Age also correlated with the maximum sEMG amplitude in the rapid stage, the variation of the EMG amplitude in the slow-muscle stage, and the EMG amplitude in the post-resting stage. But it was negatively correlated with the average sEMG amplitude during pelvic floor contraction.Conclusions:The stability and coordination of the pelvic floor muscles gradually deteriorates with age. The rate of activation and recovery become slower, with prolonged recruitment, slower response and poor excitability.

Objective:To investigate the clinical characteristics and influencing factors of pain symptoms in patients with idiopathic Parkinson′s disease.Methods:The King′s Parkinson′s Disease Pain Scale (KPPS) was used to evaluate pain of 106 patients with Parkinson′s disease. The Pittsburgh Sleep Quality Index (PSQI), the Fatigue Scale-14 (FS-14), the Unified Parkinson′s Disease Rating Scale Ⅲ, Hoehn-Yahr scale (H-Y), Mini-Mental State Examination (MMSE), Hamilton Anxiety Scale (HAMA) and Hamilton Depression Scale (HAMD) were used to assess the sleep status of patients, the degree of fatigue, motor function, severity of symptoms, cognitive function, anxiety and depression. Fifty-eight patients were followed up for three to six months.Results:The incidence of pain in Parkinson′s disease patients was 50.0% (53/106), of which skeletal muscle pain was the most common. Parkinson′s disease patients with a longer course of disease were more likely to have pain [course of disease in Parkinson′s disease with pain was 3.0 (1.5, 5.0) years, in Parkinson′s disease without pain was 2.0 (1.5, 2.5) years, Z=-2.0, P=0.046]. Male patients had more severe pain than female patients [KPPS scores in males were 14.5 (8.0, 21.5), in females were 10.0(4.0, 15.3), Z=-2.81, P=0.005]. In the first evaluation, the H-Y grading and the FS-14 scores of Parkinson′s disease patients with pain were significantly higher than those without pain [H-Y grading in Parkinson′s disease patients with pain was 2.0 (1.5, 2.5), in Parkinson′s disease patients without pain was 2.0 (1.5, 2.0), Z=-2.02, P=0.043; FS-14 scores in patients with pain were 10.0 (8.0, 11.0), in patients without pain was 8.0 (5.0, 10.0), Z=-3.32, P=0.001]. The KPPS scores were positively correlated with the scores of HAMA and HAMD ( r=0.39, P=0.005; r=0.38, P=0.007). Binary Logistic regression analysis showed that Parkinson′s disease patients with higher scores of FS-14 had an increased risk of developing pain ( OR=1.27, 95% CI: 1.09-1.48, P=0.002). The changes of KPPS scores were associated with the changes of PSQI and FS-14 scores ( r=0.54, P=0.002; r=0.50, P=0.003). The decrease of KPPS scores was only positively correlated with the decrease of FS-14 scores when the drug and medication status remained unchanged ( r=0.421, P=0.045). Multiple linear regression analysis showed that the decrease of FS-14 scores was associated with the decrease of the KPPS scores ( OR=2.02, P=0.033). Conclusions:Parkinson′s disease patients have a high incidence of pain, and fatigue is a factor for predicting the occurrence and outcome of pain in Parkinson′s disease. The severity and change of pain in Parkinson′s disease patients are related to anxiety, depression, sleep and fatigue, suggesting that there may be a common pathogenesis of pain, emotion, sleep and fatigue in Parkinson′s disease patients.

Objective:To investigate the effect of 5.8 GHz radiofrequency (RF) radiation on learning and memory along with hippocampal synaptic plasticity in rats, in order to provide theoretical and experimental references for scientific evaluation of potential hazards of 5.8 GHz RF radiation.Methods:A total of 56 healthy adult male Sprague-Dawley rats were randomly divided into sham exposure group ( n=28) and RF exposure group ( n=28). RF groups were exposed to 5.8 GHz RF for 1 h each day in 15 d or 30 d continuously, and the whole-body absorption rate was 1.15 W/kg. The learning and memory ability of rats was tested by Morris water maze (MWM). The hippocampal structure of rats was observed by Nissl stain. The density of dendritic spines in CA1 region of hippocampus was detected by Golgi stain. The expression of synaptic related protein (PSD95, Synaptophysin) in hippocampus was detected by Western blot. The level of hippocampal neurotransmitters was detected by liquid chromatography-mass spectrometry. Results:In MWM experiments, at 15 d and 30 d after RF exposure, there was no statistically significant difference between sham group and RF group in the escape latency, frequency of crossing plateau, percentage of stay time in plateau quadrant and latency of first arrival to the plateau ( P>0.05). Besides, the structure and the number of neurons in the hippocampus, the density of apical and basal dendritic spines of pyramidal neurons in the CA1 region (apical: 5.10±0.20, 4.89±0.24, 4.58±0.27, 4.49±0.24, and basal: 4.81±0.17, 4.79±0.34, 4.20±0.27, 4.22±0.17, named as Sham 15 d group, RF 15 d group, Sham 30 d group, RF 30 d group, respectively), the expression of PSD95 and Synaptophysin and the level of multiple kinds of neurotransmitters in the hippocampus had no significant changes ( P>0.05). Conclusions:In this study, 5.8 GHz RF radiation has no significant influence on the spatial learning and memory ability along with the synaptic plasticity of hippocampal neurons of rats.

Objective To evaluate the efficacy and accuracy of hammering reverse guide wire technique for safe placement of anterior column retrograde intramedullary screw in pelvic and acetabular surgery.Methods From September 2015 to March 2018,46 patients with pelvic or/and acetabular fracture involving the anterior column were treated with hammering reverse guide wire technique for safe placement of anterior column retrograde intramedullary screw at Department of Orthopaedics,Lishui Municipal Central Hospital.They were 28 men and 18 women,aged from 21 to 85 years (mean,55.6 years).There were 34 pelvic ring fractures,9 acetabular fractures and 3 combined pelvic ring and acetabular fractures.After the anterior lateral spine of pubic tuberosity was drilled by a guide pin and drill bit as the entry point,a reverse guide wire was knocked into the bone lightly by a hammer.For each retrograde intramedullary screwing into the acetabular anterior column,we recorded operation time,fluoroscopic frequency,and attempts to establish an acceptable screw pathway by the guide pin.The accuracy of screwing and the quality of fracture reduction were evaluated by imaging examination.For each patient,we recorded fracture union time and complications.Functional recovery of the pelvis and acetabulum was assessed by postoperative physical examination at the last follow-ups.Results The operation time of retrograde intramedullary screwing for the 46 patients averaged 28.9 minutes (from 16 to 55 minutes);the fluoroscopy frequency averaged 16.3 times (from 9 to 35 times);an acceptable screw pathway was established by the first attempt in 43 of the 46 patients (93.5％) and re-established after adjustment of the guide pin in the other 3.Forty patients were followed up for an average of 15.2 months(from 6 to 36 months).Postoperative CT scan and three-dimensional reconstruction showed that all the screws had been placed safely and accurately in the acetabular anterior column.Implant loosening and fracture displacement occurred in one case and lower limb thrombosis in another.No nail breakage,fracture nonunion,incision necrosis or infection,neurovascular injury or femoral head necrosis was observed.All fractures united after an average of 14.7 weeks (from 12 to 18 weeks).According to the Majeed scoring at the last follow-ups,the pelvic and acetabular function was evaluated as excellent in 29 cases,as good in 9,and as fair in 2,giving an excellent and good rate of 95.0％.Conclusion Hammering reverse guide wire technique is an effective method for safe placement of anterior column retrograde intramedullary screw in pelvic and acetabular surgery,because it can increase accuracy of screwing and reduce intraoperative radiation,operation time and incidence of complications though it is simple.

The intestinal permeability is crucial for human health,and the changes of intestinal permeability may cause variety of diseases,which is widely concerned.This article reviews the latest research progress in the relationship between intestinal permeability and diseases,the main influencing factors of intestinal permeability and its common testing methods,which may provide new ideas for the clinical treatment of related diseases.

Objective To explore the biological motion perception in Parkinson's disease (PD).Methods 45 individuals with idiopathic PD were compared with 45 matched healthy controls (HCs) using a duration discrimination task.Results The point of subjective equality(PSE) was negative value (-0.27±0.17) for health controls (HCs),and there was significant difference compared with PSE =0 by one sample t test (t=10.96,P＜ 0.01).Compared with HCs,the PSE for PD patients (-0.14±0.30) significantly decreased (t=2.63,P=0.01).When further dividing PD into early stages (stage 1-2) and late stages (stage 3-4),significant difference was found between late-stage PD patients(0.02±0.39)and HCs (t=4.07,P=0.008),but not between early-stage PD patients (-0.24±0.14) and HCs (t=0.84,P=0.405).Conclusion There is biological motion perception disorder in PD patients and it is related to the severity of PD.