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Objective:To summarize the clinical manifestations, gene variations, diagnosis and treatment of 3 cases with SLC35A2 variations characterized by congenital glycosylation disorder Ⅱm (CDG Ⅱm). Methods:A total of 3 patients admitted to the Department of Pediatrics of Xiangya Hospital of Central South University in China from 2018 to 2020 were examined in detail. The studies till January 2022 were searched with key words of "congenital disorders of glycosylation Ⅱm", " SLC35A2" and "CDG Ⅱm" in both English and Chinese in the databases of China National Knowledge Infrast Ructure (CNKI), Wanfang, Online Mendelian Inheritance in Man and PubMed, and the clinical manifestations, genetic variation, treatments and prognosis of patients with SLC35A2 mutation were summarized. Results:The patients all presented with intractable infantile spasm and global developmental delay, onset in infancy. A variety of antiepileptic treatments had temporary and partial efficacy. Otherwise, proband 2 and 3 presented with abnormal glutamic-pyruvic transaminase and increased platelets. Funduscopy showed dysplasia of the retinal pigment epithelium in both eyes, and they both received D-galactose treatment. A total of 22 relevant case reports, including 99 patients, were collected. The 99 patients all were heterozygous mutations, and a total of 75 different variation sites were reported. The clinical manifestations were characterized by global developmental delay or mental retardation ( n=89), epileptic seizure ( n=75), hypotonia ( n=57), facial deformity ( n=57), skeletal abnormality ( n=50), visual impairment ( n=42), elevated glutamic-pyruvic transaminase ( n=31), gastrointestinal symptoms ( n=28), skin deformity ( n=26), microcephaly ( n=23) and congenital heart disease ( n=12). Craniocerebral magnetic resonance imaging may be normal in the early stage. With age, magnetic resonance imaging may show abnormal white matter signals, brain atrophy, dysplasia of corpus callosum, delayed myelination, enlargement of lateral ventricle, brain stem atrophy and so on. Studies have shown that galactose treatment may be effective. Conclusions:SLC35A2 variants lead to CDG Ⅱm, whose clinical manifestations mainly include epileptic encephalopathy and global developmental delay. Multiple antiepileptic therapies can temporarily or partially control seizures, while oral galactose may improve the clinical symptoms, showing its prospect as a dietary therapy.
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Objective To explore the circadian rhythm of neurally mediated syncope (NMS)in children. Methods There were 21 6 children with NMS included in the study,including 91 male and 1 25 female,aged from 4 to 1 7 years old with a mean age of (1 1 .34 ±2.65)years,who came from the Specialist Syncope Outpatient Department or Inpatient Department of the Second Xiangya Hospital of Central South University from December 201 3 to October 201 5. The patients were divided into vasovagal syncope (VVS)group and postural tachycardia syndrome (POTS)group ac-cording to head -up tilt test (HUTT)results,including 1 78 VVS patients and 38 POTS patients.Ninety -four patients with NMS were in the 0.05).(2)The number of syncopal episodes in patients with VVS which occurred in the morning hours was strikingly higher than that of afternoon,evening or nighttime (P 0.05).Patients with VVS had a higher proportion of episodes in the morning but a lower proportion in the evening when compared with the POTS group (P <0.05).(3)The male children with NMS tended to have a higher proportion of episodes in the morning than the female patients(χ2 =1 1 .001 ,P =0.01 2).(4)There seemed to be no difference in the frequency of syncopal episodes through the day between the <1 2 years old group and the ≥1 2 years old group(χ2 =1 .995,P =0.573).Conclusions The frequency of syncopal episodes in children with VVS displayed a clear circadian rhythm,with a peak in the morning,but the POTS patients did not show a circadian variation.The male children with NMS tended to have a higher proportion of episodes in the morning than the female patients.
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OBJECTIVE@#To explore the change of the amplitude of P wave, T wave and ST segment of 12 lead electrocardiogram (ECG) in children with breath holding spell. @*METHODS@#A total of 29 children (24 males and 5 females) with breath holding spell in Second Xiangya Hospital, Central South University were enrolled for this study from October, 2009 to September, 2015. Their ages ranged from 3 months to 6 years, with an average of 1.82±1.27 years old. The control group consisted of 30 age-matched and gender-matched healthy children. All subjects were underwent electrocardiography by the SR-1000A comprehensive automatic electrocardiograph analyzer, and the changes of the ECG parameters were compared between the two groups. @*RESULTS@#Compared with the control group, the amplitude of P-wave of V5 lead was decreased [(44.10±23.98) vs (58.30±21.19) μV, P<0.05], the amplitude of T-wave of V6 lead was increased [(423.80±122.6) vs (350.00±105.73) μV, P<0.05], the amplitude of ST segment of II lead was increased [(84.80±39.97) vs (57.30±38.77) μV, P<0.05], the amplitude of ST segment of aVR lead was increased [(-77.60±37.41) vs (-51.00±33.46) μV, P<0.05], the amplitude of ST segment of aVL lead was increased [(35.20±28.24) vs (17.70±33.90) μV, P<0.05], the amplitude of ST segment of V5 lead was increased [(111.00±59.36) vs (69.00±36.33) μV, P<0.05], the amplitude of ST segment of V6 lead was increased [(79.30±45.51) vs (51.30±33.19) μV, P<0.05]. @*CONCLUSION@#The children with breath holding spell have autonomic nerve dysfunction. The amplitude of ST segment changes is sensitive.
Subject(s)
Female , Humans , Infant , Male , Breath Holding , Brugada Syndrome , Cardiac Conduction System Disease , Electrocardiography , Heart Conduction SystemABSTRACT
Unexplained syncope (UPS) is a common clinical disease.It may occur at all ages.But the pothogenisis of UPS is still unclear.There are many researches at home and abroad reporting that the cardiovascular system has endogenous circadian rhythm.And the circadian variations of autonomic nervous system,ambulatory blood pressure,and heart rate variability may contribute to the observed circadian rhythm of cardiovascular.Sudden cardiac and cerebral events are most common in the morning.The time rhythm of UPS may have potential implications for management.