Advances in chloride voltage-gated channel and intellectual disability / 国际儿科学杂志

Chloride voltage-gated channel, as an important ion channel in living organisms, has many important physiological functions.The gene encoding chloride voltage-gated channel protein is CLCN, which has nine members(CLCN1~7, CLCNKa, and CLCNKb).The CLCN gene variants lead to abnormal expression of chloride channel proteins, which affect the biological activities of neuronal signaling, ion homeostasis, intracellular transport, and lysosomal protein degradation, thereby altering ion channel gating properties, interfering with the normal developmental process of the nervous system, and causing the development of intellectual disability.In recent years, further studies of the CLCN gene have found that the variants in some members of this family are closely related to intellectual disability.This review will discuss the correlation between the chloride voltage-gated channel and intellectual disability.

Research on the correlation between corpus callosum area and neurobehavioral disorders in children with autism spectrum disorders / 中国基层医药

Objective:To investigate the relationship between median sagittal corpus callosum area and neural behavior in children with autism spectrum disorder (ASD).Methods:From January 2017 to December 2018, in Anhui Provincial Children's Hospital, 38 children with ASD were selected as the study group, and 35 matched children with normal development were selected as the control group.The autism behavior checklist (ABC) scale was used to evaluate the neurological behavior of children with ASD.All children were examined by cranial MRI.The total and partition area of the corpus callosum were measured at the median sagittal position, and the difference between the two groups was analyzed, as well as the relationship between the area of the corpus callosum and the abnormal neurological behavior of ASD.Results:The total and panition area size of corpus callosum in the study group were smaller than those in the control group[area 1: (182.63±30.99)mm 2 vs.(213.82±26.01)mm 2, area 2: (54.78±10.77)mm 2 vs.(63.75±12.53)mm 2, area 3: (45.16±6.52)mm 2 vs.(54.04±10.56)mm 2, area 4: (35.82±8.05)mm 2 vs.(49.93±14.47)mm 2, area 5 (127.63±26.50)mm 2 vs.(154.32±30.18)mm 2, total area: (445.31±64.91)mm 2 vs.(533.57±60.50)mm 2], and the differences were statistically significant ( t=-4.189, -2.982, -3.230, -4.363, -3.649, -5.543, all P<0.05). The differences between the two groups were mainly concentrated in the area of the knee, the area of the isthmus and the total area of the corpus callosum.The total area of corpus callosum was negatively correlated with 5 neurobehavioral dysfunction scores of ASD.The total area of corpus callosum was significantly correlated with communication disorder and language disorder ( r=-0.439, -0.544, all P<0.01). Conclusion:There are abnormalities in the development of the corpus callosum in children with ASD.The smaller the area of the corpus callosum, the more severe the clinical abnormal behavioral symptoms is.The measurement of corpus callosum area in children with ASD can provide support for diagnosis and disease assessment.

An Automatic Recognition Algorithm for Feature Points of Photoplethysmography / 医用生物力学

Objective In order to make up for the deficiency in the existing photoplethysmography feature point recognition algorithms which need manually setting the selecting threshold and have poor adaptability to complex waveforms, an automatic reognition algorithm for feature points based on monotonic increase in geometrical characteristics of pulse wave ascending branch was proposed. Methods A ‘reference point’ was determined in each pulse period by zero crossing detection after two Hilbert transformation. The nearest concave and convex inflection points that searched around the ‘reference points’ were the notchs and systolic peaks. Results By using the 18 sets of data in the MIT-BIH standard database for verification, the average sensitivity, precision and detection accuracy reached 99.94%, 99.72% and 99.68%, respectively. Compared with the existing four algorithms, there was a significant improvement in the precision. Feature points could still be accurately identified for complex waveforms. Conclusions The proposed algorithm achieved a higher detection accuracy in the process of searching and determining the position of the pulse wave notchs and systolic peaks, and exhibited a stronger adaptability to the waveform change. The research results provide a good foundation for physiological and pathological analysis through pulse wave features extraction in clinic.

An Automatic Recognition Algorithm for Feature Points of Photoplethysmography / 医用生物力学

Objective In order to make up for the deficiency in the existing photoplethysmography feature point recognition algorithms which need manually setting the selecting threshold and have poor adaptability to complex waveforms, an automatic reognition algorithm for feature points based on monotonic increase in geometrical characteristics of pulse wave ascending branch was proposed. Methods A ‘reference point’ was determined in each pulse period by zero crossing detection after two Hilbert transformation. The nearest concave and convex inflection points that searched around the ‘reference points’ were the notchs and systolic peaks. Results By using the 18 sets of data in the MIT-BIH standard database for verification, the average sensitivity, precision and detection accuracy reached 99.94%, 99.72% and 99.68%, respectively. Compared with the existing four algorithms, there was a significant improvement in the precision. Feature points could still be accurately identified for complex waveforms. Conclusions The proposed algorithm achieved a higher detection accuracy in the process of searching and determining the position of the pulse wave notchs and systolic peaks, and exhibited a stronger adaptability to the waveform change. The research results provide a good foundation for physiological and pathological analysis through pulse wave features extraction in clinic.

Four years clinical follow-up and review analysis in a novel IBA57 mutation associated multiple mitochondrial dysfunction syndrome / 中华实用儿科临床杂志

Objective To investigate the clinical,imaging and IBA57 gene mutation features in a Chinese patient with multiple mitochondrial dysfunction syndrome,and to evaluated the effect of comprehensive rehabilitation.Methods The clinical data of 1 case of multiple mitochondrial dysfunction syndrome with IBA57 mutation in Department of Rehabilitation,Anhui Provincial Children's Hospital were analyzed."IBA57 white matter malnutrition" and "IBA57 leukodystrophy" were used as the key words,to search for papers which were included in CNKI,the knowledge service platform of Wanfang Data,and biomedical literature database (PubMed) from its establishment to February 2017.The clinical,imaging and gene mutation characteristics of children with IBA57 gene mutation were summarized.Results Children,male,four years and 8 months,for "movement disorders for nearly 4 years,repeated seizures 1 and a half years" in February 2017 hospitalized again.The boy was admitted into hospital when he was one year of age because of motor and cognitive disorder after fever,Disease was development,The skull MRI showed multiple abnormal signal in bilateral frontal occipital lobe and semi-oval center white matter.Cognitive and verbal improvement was better,and the motor function gradually improved after repeated rehabilitation in our hospital,skull MRI showed that multiple abnormalities were reduced in bilateral frontal occipital lobe and semi-oval center white matter.However,The boy presented twitch when he was three years and 2 months old.Skull MRI showed that multiple abnormal signal increased in bilateral forehead occipital lobe and semi-oval center white matter in four years and 3 months and 6 months of age.The child was diagnosed with white matter disease after multiple hospitalizations,and c.286T ＞ C (p.Tyr86 His) and c.1053 G ＞ A (p.Trp351 *) were found in the IBA57 gene through exome sequencing analysis,as the 2 mutations constituted complex heterozygous mutation.The former was inherited from the mother,and the mutation was missense mutation,so the protein structure was predicted to be harmful;the latter was inherited from the father,and the mutation was nonsense mutation,which could lead to the coding protein truncation,and this was never reported before.The child was diagnosed as multiple mitochondrial dysfunction syndrome type 3,followed by treatment with high-dose coenzyme Q10,ATP,compound vitamin B and others.While taking levetiracetam and topiramate antiepileptic,and family rehabilitation,his condition was stable.Conclusion The extensive white matter lesions presented in the child may be caused by mitochondrial disease with IBA57 gene mutation.

Diagnostic value and influencing factors of endoscopic ultrasound-guided fine needle aspiration for space-occupying lesions of gastrointestinal adjacent tissue / 中华消化内镜杂志

Objective To investigate the diagnostic value of endoscopic ultrasound-guided fine needle aspiration ( EUS-FNA) on malignant lesions in gastrointestinal adjacent tissue, and further to analyze the risk factors influencing positive rate of EUS-FNA. Methods The clinical data of 171 patients undergoing EUS-FNA from January 2009 to May 2016 were collected. The lesion location, size and characteristics, the number of needle passes, puncture suction negative pressure, size of puncture needle, and years of operator experience in EUS were retrospectively analyzed. Results The overall sensitivity, specificity, and accuracy of EUS-FNA in the diagnosis of malignant lesions were 78. 3％ ( 83/106) , 100. 0％ ( 65/65) , and 86. 5％( 148/171) , respectively. The univariable logistic regression analysis demonstrated that the risk factors of EUS-FNA were lesion location, lesion characteristics, and lesion size. In multivariate analysis, larger lesion size ( OR=1. 029, 95％CI: 1. 011-1. 047, P=0. 001) and lesion characteristics of solid ( OR=5. 098, 95％CI:1. 324-19. 633, P=0. 018) were independent factors affecting the positive rate of EUS-FNA. Among 171 cases performed by EUS-FNA, the incidence of postoperative complications was 1. 75％ ( 3/171 ) included 2 cases of fever and 1 case of acute pancreatitis, which were improved after conservative treatment. Conclusion EUS-FNA is a safe and effective method of cytological and histological diagnosis with high accuracy and sensitivity, importantly in distinguish malignancy from benign lesion in gastrointestinal adjacenttissue. Positive rate of diagnosis on malignant lesions by EUS-FNA is positively correlated with lesion size, and EUS-FNA positive rate of solid malignant lesions is significantly higher than that of cystic lesions.

Value of endoscopic ultrasound-guided fine needle aspiration in pretest prediction and diagnosis of pancreatic ductal adenocarcinoma / 南方医科大学学报

<p><b>OBJECTIVE</b>To identify the predictive factors for differentiating pancreatic ductal adenocarcinoma (PDAC) from other neoplastic solid pancreatic lesions and assess the accuracy of endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) for diagnosis of PDAC.</p><p><b>METHODS</b>We retrospectively analyzed the clinical data of patients referred for EUS-FNA evaluation of pancreatic lesions in the Digestive Endoscopic Center of Nanfang Hospital between January, 2009 and May, 2016. The cases with unknown diagnosis, missing data, repeated punctures, cystic lesions and benign lesions were excluded from the analysis. The positivity rates of EUS-FNA were compared between patients with PDAC and those with non-PDAC lesions, and the sensitivity, specificity, positive predictive value, negative predictive value and accuracy of EUS-FNA were assessed in the diagnosis of PDAC. Univariate and multivariate logistic regression analyses were used to identify the factors for differentiating PDAC from non-PDAC lesions based on the demographic characteristics, clinical presentations, laboratory data, and endoscopic ultrasonography imaging features of the patients.</p><p><b>RESULTS</b>Among the 75 patients with solid neoplastic pancreatic lesions, 54 (72.0%) were found to have PDAC and 21 (28.0%) had non-PDAC lesions. The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of EUS-FNA for the diagnosis of PDAC were 77.8%, 100.0%, 100.0%, 63.6% and 84.0%, respectively. No significant difference was found in the positivity rate of EUS-FNA between patients with PDAC and those with non-PDAC lesions (77.8% 76.2%, > 0.05). Multivariate regression analysis identified abdominal pain (=5.163, 95%: 1.093-24.389, =0.038), lesion size (=0.926, 95%: 0.877-0.978, =0.006), characteristics of the solid lesions (=7.105, 95%: 1.440-35.043, =0.016), and evidence of metastases (=6.165, 95%: 1.332-28.533, =0.020) as the independent factors for predicting PDAC.</p><p><b>CONCLUSIONS</b>The pretest characteristics including abdominal pain, evidence of metastases, and lesion size and lesion characteristics defined by endoscopic ultrasonography findings can reliably predict a diagnosis of PDAC. EUS-FNA has a high sensitivity and a high specificity for the diagnosis of PDAC.</p>