Objective To observe the positive rates of five kinds of serum pancreas islet auto‐antibodies IA‐2A ,GADA ,ICA‐64KD ,ICA‐40KD ,IAA in type 1 diabetes mellitus(T1DM ) ,type 2 diabetes mellitus(T2DM ) and the normal population and their clinical significance .Methods The above 5 kinds of serum auto‐antibodies were detected in 22 cases of T1DM ,160 cases of T2DM and 20 healthy people by using the immunoblotting test .Then the detection results were analyzed .Results The positive rates of IA‐2A ,GADA ,ICA‐64KD ,ICA‐40KD and IAA were 45 .5% ,72 .7% ,45 .5% ,9 .1% and 9 .1% respectively in the T1DM group , 23 .8% ,28 .8% ,8 .8% ,3 .8% and 3 .8% respectively in the group T2DM ,and 0% in the normal control group .The IA‐2A positive rate in the T1DM group was higher than that in the healthy control group(P < 0 .05) .The positive rate of GADA in the T1DM group and T2DM group was higher than that in the healthy control group(P< 0 .01 ,P= 0 .005) ,the T1DM group was higher than the T2DM group(P< 0 .01) ,the positive rate of ICA‐64KD in the T1DM group was higher than that in the healthy control group and the T2DM group(P = 0 .002 ,P < 0 .01) ,the differences in the comparison among other groups had no statistical significance (P> 0 .017) .Conclusion GADA and IA‐2A have the diagnostic value to T1DM ,GADA also has the diagnostic significance to T2DM ,GADA and ICA‐64KD have the differentiating diagnostic significance to T1DM and T2DM .

Objective:To analyze the clinical features of the recurrence of febrile seizures(FS), and observe the efficacy of levetiracetam(LEV)in preventing FS recurrence.Methods:We retrospectively analyzed the clinical data of 101 cases of FS recurrence who were admitted to the Department of Neurology of our hospital from May 2017 to May 2020, and collected the information of the recurrence after discharge and adverse effects of LEV application.Cox proportional hazards model regression was applied to explore the relationship between FS recurrence and LEV prophylaxis.Results:Among 101 cases of recurrent FS, the section of 18-60 months(63/101)composed the dominant proportion, of which the episode of 18-36 months(40/101)took the biggest recurrence rate.All 101 recurrent FS cases occurred within 24 hours of fever-beginning time, and 74.3%(75/101)occurred within 3 hours of fever onset.39.6% cases(40/101)were non-high febrile seizures, of which 30.0%(12/40)even had a temperature ≤38°C at the onset.Ninty-five cases of FS were included in the retrospective cohort study.Thirty-eight cases(4 lost to follow-up)were treated with LEV, while 57 cases(7 lost to follow-up)were not treated with any anticonvulsant drugs.The recurrence rate in the prophylactic group was 17.6%(6/34), compared with 44.0%(22/50)in the control group.The recurrence rate of the prophylactic group was statistically lower than that of the control group( χ2=6.325, P=0.012). Cox regression analysis was used to explore the relationship between FS recurrence and various factors, suggesting LEV prophylaxis( OR=0.325, 95% CI 0.129-0.821)and family history of FS( OR=3.060, 95% CI 1.427-6.560)affect the recurrence of FS.Then FS family history was stratified, LEV prophylaxis still statistically reduced the recurrence of FS( OR=0.316, 95% CI 0.124-0.802). Conclusion:The risk of recurrence increases significantly after 18 months of the age.Besides, FS recurrence is relatively common in the initial episode of fever and in the stage of low fever.For children at months of high probability of recurrence, prophylactic drugs should be used in the initial episode of fever and in the stage of low fever.LEV prophylaxis therapy is effective, with mild adverse reactions.

Objective To investigate the relationship between aquaporin-1, -2, -3, -4 mRNA (AQP1-4) and renal parenchyma thickness in congenital hydronephrotic kidney in children. Methods The expressions of aquaporin 1, -2, -3, and -4 mRNA in hydronephrotic kidney of 37 children (aged 60.3±48.8 months) were evaluated with congenital hydronephrosis and control kidney of 6 children (aged 62.7±17.1 months) by using semi-quantitative reverse transcriptase polymerase chain reaction technique. Hydronephrotic kidney parenchyma thickness was measured by B-Ultrasound preoperative-ly and verified at operation. The relations of aquaporin 1, -2, -3, and -4 mRNA to the hydronephrotic kidney parenchyma thickness were analyzed by correlation analysis. Results The aquaporin 1 ,-2,-3, and -4/beta-actin ratio in the hydronephrotic kidney and normal kidney were 0.39±0.22 vs 0.90± 0.10, 0.42±0.20 vs 0.92±0.09, 0.525±0.22 vs 0.98±0.12, 0.30±0.18 vs 0.74±0.21 respec-tively, and the differences were significant (P<0.01). Hydronephrotic kidney parenchyma thickness measured by D-Ultrasound was 5.01±2.38 mm, which was identical with those measured at opera-tion. Significant correlation was found between the levels of aquaporin 1,-2,-3, and -4 mRNA and hydronephrotic kidney parenchyma thickness (r=0.773, 0.772, 0.557, 0.625, respectively; P< 0.01). Conclusions Significant correlation exists between decreased expressions of aquaporin 1 ,-2, -3, and -4 mRNA and atrophic change of renal parenchyma. This result may provide evidence to ex-plain the mechanism why the thinner renal parenchyma thickness, the weaker renal concentration and dilution function.

Objective To summarize the efficacy and adverse reactions of incremental corticotrophin (ACTH) therapy in the treatment of infantile spasms (IS),and to provide new clinical treatment options.Methods The clinical data of 40 children with IS who were hospitalized in the Department of Neurology,Shanghai Children's Medical Center,Shanghai Jiaotong University School of Medicine,treated with ACTH from January 2016 to January 2018 were collected and retrospectively analyzed.All the children were treated with intravenous infusion of ACTH with an initial dose 12.5 U/d for 3 days.If the spasms did not disappear,dosage of ACTH increased to 25.0 U/d for another 3 days.If the spasms could not yet be fully controlled,the dosage increased to 40.0 U/d,and the total course of treatment did not exceed 2 weeks.If the spasms disappeared at each dose stage or the course of treatment reached to 2 weeks,ACTH would be changed to Prednisone 2 mg/(kg · d) orally,which gradually decreased in 2 months.All children underwent electroencephalogram examination before and after treatment.Results Forty patients with IS were treated with ACTH increasing therapy.The disappearance rate of spasms was 40.0％ (16/40 cases) totally,with 7.5％ (3/40 cases) at the dosage phase of 12.5 U/d,16.2％ (6/37 cases) at the dosage stage of 25.0 U/d,and 22.6％ (7/31 cases) at the dosage of 40.0 U/d.The disappearance rate of hypsarrhythmia on electroencephalogram was 60.0％ (24/40 cases) generally,and 5.0％ (2/40 cases),10.8％ (4/37 cases),58.1％ (18/31 cases),respectively at above different dosage phases,while 37.5％ (15/40 cases) of the children had mild adverse reactions,mostly respiratory infections.Conclusions The short-term efficacy of the ACTH incremental therapy in the treatment of IS is positive,and the incidence of adverse reactions is low.

Objective:To analyze the clinical characteristics, cerebrospinal fluid (CSF) and other auxiliary examination results of febrile children with convulsions in order to provide the evidence for clinical recognition of central nervous system (CNS) infection and its etiology.Methods:The clinical data of 64 fever patients with convulsions admitted at the Department of Neurology, Shanghai Children′s Medical Center, Shanghai Jiaotong University School of Medicine were analyzed retrospectively.According to the results of the routine biochemical examination of CSF, they were divided into 2 groups as CSF normal group (44/64 cases, 69%) and CSF abnormal group (20/64 cases, 31%). Their age, gender, clinical manifestations, physical symptoms and auxiliary examination results were compared between the two groups. Logistic regression analysis was performed to explore the independent risk factors of abnormal CSF results.Twenty children with abnormal CSF results were divided into the normal glucose group (12/20 cases, 60%) and the glucose reduction group (8/20 cases, 40%) according to the glucose level of CSF.The fever duration, serum inflammation markers, CSF routine and biochemical indexes of the two groups were compared. Results:According to Logistic multivariate unconditional regression analysis, the mental state change ( OR=435.99, P=0.010), abnormal neurological signs ( OR=65.25, P=0.023) and vomiting ( OR=20.56, P=0.048) were the high risk factors of abnormal CSF results.Among the children with abnormal CSF results, in the glucose reduction and normal glucose groups, the fever duration was 12.50 (7.75-16.75) d and 4.00 (3.00-5.75) d, respectively; the level of CSF protein were 3 000 (1 745-3 000) mg/L and 648 (469-1 734) mg/L, respectively; the erythrocyte sedimentation rate (ESR) was 71.50(56.00-97.50) mm/1 h and 20.50 (12.00-26.00) mm/1 h, respectively; the procalcitonin level was 2.76(0.90-20.72) g/L and 0.23 (0.03-1.00) g/L, respectively; the C-reactive protein (CRP) level was 123.00 (33.00-177.75) mg/L and 12.50(4.25-57.75) mg/L, respectively.The fever duration, CSF protein level, ESR, procalcitonin level and CRP level were statistically different between the glucose reduction and normal glucose groups (all P<0.05). Conclusions:In fever children with convulsions, vomiting, the mental state change, and abnormal neurological signs are the high risk factors of abnormal CSF results, suggesting the possibility of CNS infections and the need of early diagnosis by CSF and other auxiliary examinations.In addition, a low level of CSF glucose in children with abnormal CSF results may be a potential and powerful clue for purulent meningitis.Timely etiological tests are required for confirmation, and antibiotics treatments should be applied as early as possible.

Objective:To investigate the clinical features of Herpes simplex virus encephalitis(HSE) with cerebral hematoma as the prominent manifestation and the significanc of metagenomic next-generation sequencing (mNGS) in the diagnosis of HSE.Methods:The clinical manifestations, diagnostic process, clinical treatment and prognosis of a case of HSE with cerebral hematoma as the prominent manifestation at Shanghai Children′s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine in June 2019 were retrospectively analyzed.The relevant literatures were also searched and reviewed.Results:A 4-year-old boy presented with slight fever, headache, convulsion and vomiting was considered to have intracranial space-occupying lesions and possible intratumoral hemorrhage after undergoing imaging examination at a local hospital.The patient was checked by head CT in Shanghai Children′s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, which showed that there were many bleeding foci in the brain, indicating the possibility of complications of blood system diseases.Therefor the child was given the examination of blood routine and coagulation routine, but the results were normal, the bone marrow cytology was negative, the cerebrospinal fluid(CSF) of lumbar puncture was biochemically normal, and mNGS were 8×10 6/L.Besides, CSF smear, culture and next-generation sequencing were negative, the autoimmune encephalitis CSF testing was negative, and brain biopsy suggested inflammation.The mNGS brain tissue showed herpes simplex virus 1 was positive in two specimens, confirming the diagnosis of HSE.After 3 weeks of antiviral treatment with Aciclovir, the child′s condition improved.After a 5-month follow-up, the patient had quadriplegia and only had activities such as blinking and swallowing. Conclusions:When the intracerebral hemorrhage such as hematoma caused by encephalitis clinically can not be ruled out, the possibility of HSE should be considered, and mNGS is helpful for identifying the central ner-vous system pathogen.

OBJECTIVE: To explore the genetic basis for 7 patients with Alström syndrome. METHODS: DNA was extracted from peripheral blood samples of the patients and their parents. Whole exome sequencing was carried out for the patients. Suspected variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: Genetic testing revealed 12 variants of the ALMS1 gene among the 7 patients, including 7 nonsense and 5 frameshift variants, which included c.5418delC (p.Tyr1807Thrfs*23), c.10549C>T (p.Gln3517*), c.9145dupC (p.Thr3049Asnfs*12), c.10819C>T (p.Arg3607*), c.5701_5704delGAGA (p.Glu1901Argfs*18), c.9154_9155delCT (p.Cys3053Serfs*9), c.9460delG (p.Val3154*), c.9379C>T (p.Gln3127*), c.12115C>T (p.Gln4039*), c.1468dupA (p.Thr490Asnfs*15), c.10825C>T (p.Arg3609*) and c.3902C>A (p.Ser1301*). Among these, c.9154_ 9155delCT, c.9460delG, c.9379C>T, and c.1468dupA were unreported previously. Based on the standards and guidelines of American College of Medical Genetics and Genomics, the c.9379C>T and c.12115C>T variants of the ALMS1 gene were predicted to be likely pathogenic (PVS1+PM2), whilst the other 10 variants were predicted to be pathogenic (PVS1+ PM2+ PP3+PP4). CONCLUSION ALMS1 variants probably underlay the Alström syndrome in the 7 patients, and genetic testing can provide a basis for the clinical diagnosis of this syndrome. The discovery of four novel variants has expanded the mutational spectrum of Alström syndrome.
Alstrom Syndrome/genetics* ; Cell Cycle Proteins/genetics* ; Humans ; Mutation ; Pedigree ; Whole Exome Sequencing