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Severe neonatal episodic laryngospasm (SNEL) is an ion channel disease characterized by recurrent life-threatening myotonia of respiratory muscle due to mutations in the voltage-gated sodium channel genes. Here we reported a newborn manifested as paroxysmal cyanosis and limb myotonia after birth. The neonate also developed muscle hypertrophy and stunted growth during the follow-up. Whole exome sequencing confirmed c.2395G>A, p. Ala799Thr heterozygous mutation of SCN4A. Carbamazepine was found to be effective on treating the disease. This case expands our understanding of the phenotype resulting from SCN4A mutations. By summarizing the characteristics of reported 16 cases in SNEL, we found they were mainly in the p.G1306E mutation. The common symptoms were upper airway muscle stiffness and feeding difficulties during neonates. When grow up, most patients have different degrees of recurrent attacks of myotonia and progressed muscle hypertrophy. Some of them have athlete-like special faces but all showed myotonic discharge in eletromyogram.
ABSTRACT
A case of SNX10 gene mutation in a patient with infantile malignant osteopetrosis (IMO) was admitted to Department of Pediatrics, Third Xiangya Hospital, Central South University. The patient had the symptom of anemia, hepatosplenomegaly and growth retardation. The X-ray examination suggested extensive increase of bone density throughout the body, which was clinically diagnosed as IMO. The homozygous mutation of SNX10 gene c.61C>T was found via gene sequencing. We reviewed the relevant literatures and found that anemia, visual and hearing impairment, hepatosplenomegaly are the main clinical symptoms of IMO, SNX10 gene mutation is a rare cause of IMO, and hematopoietic stem cell transplantation is an effective treatment.
Subject(s)
Child , Humans , Bone Density , Hematopoietic Stem Cell Transplantation , Mutation , Osteopetrosis/genetics , Sorting Nexins/geneticsABSTRACT
Objective To study the characteristics of amplitude integrated electroencephalogram (aEEG) in full-term newborns with different blood glucose levels,so as to provide clinical evidence for assessing brain function after hypoglycemia.Method Full-term neonates admitted to the neonatal ward of the Third Xiangya Hospital of Central South University from June 2014 to May 2016 with the initial diagnosis of hypoglycemia were enrolled to hypoglycemia group.According to the lowest level of blood glucose,infants were assigned to three subgroups,severe hypoglycemia group (＜ 1.1 mmol/L),moderate hypoglycemia group (1.1 ～ ＜2.2 mmol/L),and mild hypoglycemia group (2.2 ～ ＜2.8 mmol/L).Time matched asymptomatic term infants,who were admitted to the neonatal ward due to maternal high risks and with normal blood glucose after birth,were enrolled to control group.A 4 h continuous aEEG monitoring was completed for each infant in hypoglycemia group within 12 h after the blood glucose level stabilized.The newborns in control group were given aEEG examination 72 ～ 120 h after birth,the duration of monitoring was also 4 h.The aEEG scoring was completed and compared by rank sum test.Result A total of 83 neonates were enrolled in hypoglycemia group,including 11 with severe hypoglycemia,32 with moderate hypoglycemia,and 40 with mild hypoglycemia.Another 26 neonates with normal blood glucose level were enrolled in control group.The incidence of pregnancy-induced maternal blood glucose elevation was statistically significant among each group (P ＜ 0.05).The duration of neonatal hypoglycemia in severe hypoglycemia group was longer than that in moderate hypoglycemia group and mild hypoglycemia group [38.3 (20.7,50.4) h vs.20.4(15.3,22.6) h,13.7 (7.8,19.4) h] (P＜ 0.05).The range of glucose level in severe hypoglycemia group was larger than that in mild and moderate hypoglycemia group [5.0 (4.0,5.5) mmol/Lvs.3.5 (3.0,3.9) mmol/L,3.3 (2.8,3.8) mmol/L] (P ＜ 0.05),but there was no significant difference in the onset of first hypoglycemia between groups (P ＞ 0.05).The aEEG score showed that there was significant difference in total score and sleep-wake cycle score between groups (P ＜ 0.05).The score of sleep-wake cycle in severe hypoglycemia group was significantly lower than that in moderate hypoglycemia group or in mild hypoglycemia group or in the control group (P ＜ 0.05),while there was no significant difference between moderate and mild hypoglycemia groups,and between moderate hypoglycemia and control group (P ＞ 0.05).Conclusion Severe hypoglycemia can lead to neonatal aEEG changes,mainly in the sleep-wake cycle changes.
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<p><b>OBJECTIVE</b>To explore the recognition ability and abnormal processing characteristics to basic emotional faces in the early phase in children with autism spectrum disorders (ASD).</p><p><b>METHODS</b>Photos of Chinese static faces with four basic emotions (fearful, happy, angry and sad) were used as stimulus. Twenty-five ASD children and twenty-two age- and gender-matched typical developed children (normal controls) were asked to match the emotional faces with words. Event-related potential (ERP) data were recorded concurrently.</p><p><b>RESULTS</b>N170 latencies for total emotion and fearful face in the left temporal region were faster than in the right one in normal controls (P<0.05), but the results were not noted in ASD children. Further, N170 latencies in the left temporal region of ASD children were slower than normal controls for total emotion, fearful and happy faces (P<0.05), and their N170 latencies in the right temporal region were prone to slower than normal controls for angry and fearful faces.</p><p><b>CONCLUSIONS</b>The holistic perception speed of emotional faces in the early cognitive processing phase in ASD children is slower than normal controls. The lateralized response in the early phase of recognizing emotional faces may be aberrant in children with ASD.</p>
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<p><b>OBJECTIVE</b>To investigate the characteristics of working memory ability on emotional faces and related event-related potential (ERP) in children with autism spectrum disorder (ASD).</p><p><b>METHODS</b>The Chinese Facial Affective Picture System was used as test material, and the event-related potential system was used to record the electroencephalographic data when 16 ASD children aged 6-12 years (ASD group) and 14 normal children matched for age (control group) were completing the facial emotion delayed match-to-sample task. The characteristics of P3b component were analyzed for both groups.</p><p><b>RESULTS</b>Compared with the control group, the ASD group had a significantly longer reaction time (1 527 ms vs 1 060 ms; P<0.05) and a significantly lower accuracy rate (76% vs 88%; P<0.01) in the facial emotion delayed match-to-sample task. There was a difference in the amplitude of P3b component during the encoding stage between the two groups. In the ASD group, the P3b component on the left side electrode had a higher amplitude than that on the right side electrode (P<0.05), while the control group had no such characteristics.</p><p><b>CONCLUSIONS</b>There is a difference in P3b component during the encoding stage between school-aged ASD children and normal children. In ASD children, working memory on emotional faces may depend more on the related neural pathway in the left hemisphere.</p>
Subject(s)
Child , Female , Humans , Male , Autism Spectrum Disorder , Psychology , Emotions , Evoked Potentials , Facial Expression , Memory, Short-TermABSTRACT
<p><b>OBJECTIVE</b>Based on 'Back-tracking' method, identification and quality evaluation of complex traditional Chinese medicine (TCM) preparation of Baoji pills (BJP) were carried out by HPLC fingerprint analysis.</p><p><b>METHOD</b>HPLC-DAD fingerprint of BJP was conducted with Zorbax SB-C18 column and non-linear elution with the mobile phase consisted of acetonitrile-0.5% glacial acetic acid at column temperature 30 degrees C and detective wavelengths of 250 nm and 283 nm. From the established chromatographic pattern of BJP, track backward to the corresponding crude herbal drugs in the formula, attribution ofmost peaks in the BJP fingerprint can be disclosed.</p><p><b>RESULT</b>The BJP HPLC fingerprint consisted of 44 peaks among which 35 peaks were assigned by parallel comparison with the fingerprint of the 10 corresponding crude drugs in the formula such as pueraria, pummelo peel, and magnolia bark, etc. and 22 peaks we reidentified by comparison with the chemical reference substances.</p><p><b>CONCLUSION</b>The established HPLC fingerprint represents the whole character of BJP, which enhanced the specialty for control and assessment of the product quality. It exemplified much more effective for quality control than selecting any marker for qualitative or quantitative testing target. And the Back-tracking' experimental method extended the study mentality for complex formula TCM products chromatographic fingerprinting analysis.</p>