Clinical manifestations of liver in congenital disorders of glycosylation / 国际儿科学杂志

Congenital disorders of glycosylation(CDG)are caused by defects in the synthesis of glycans and their binding to proteins and lipids.Up to now, over 100 types of CDG have been identified.This disease can cause functional damage to multiple organs including liver, kidney and heart.The CDG types with predominant or isolated liver involvement including MPI-CDG, TMEM199-CDG, CCDC115-CDG, and ATP6AP1-CDG.Their clinical manifestations include enlarged liver, elevated transaminase, cholestasis, liver fibrosis, liver failure, abnormal ceruloplasmin, and copper accumulation.Their pathological manifestations include steatosis, fibrosis, liver cirrhosis, cholestasis, and abnormal bile duct.This review mainly describes the types of CDG and their pathogenesis, clinical manifestations and liver involvement to provide a perspective for the diagnosis of CDG with liver manifestations.

Clinical analysis of 18 children with Prader-Willi syndrome / 中华实用儿科临床杂志

Objective:To study the clinical features of children with Prader-Willi syndrome(PWS).Methods:Eighteen cases of PWS were collected from July 2016 to November 2018 in Shenzhen Maternal and Child Healthcare Hospital, Southern Medical University.The clinical data of children with PWS were analyzed retrospectively.Results:There were 12 males and 6 females in 18 cases with PWS.The diagnosis age ranged from 25 days to 9.5 years old [(3.09±3.02) years old]. Among them, 11 cases were in infancy (≤3 years old) and 7 cases after infancy (>3 years old). The main clinical features of infants with PWS were 11 cases of gonadal dysplasia (100.0%), 11 cases of psychomotor retardation (100.0%), 10 cases of hypotonia (90.1%), 6 cases of feeding difficulty and weak cry (54.5%). After infancy the main clinical features included 7 cases of psychomotor retardation (100.0%), 5 cases of hyperphagia(71.4%), 5 cases of obesity (71.4%), 5 cases of abnormal behavior problems (71.4%) and 4 cases of visual problems (57.1%). The clinical features of all patients throughout the developmental stage were as follows: decreased fetal movement, hypoplasia, neonatal hypotonia, weak cry, feeding difficulty, psychomotor delay, hyperphagia, obesity, abnormal behavior problems, and so on.Conclusions:The clinical features of PWS vary with age.The main clinical features in the infancy are hypotonia, weak cry, difficulty feeding and gonadal dysplasia.After infancy, there are hyperphagia, obesity, behavior and visual problems.And psychomotor retardation is present in the whole developmental stage of children with PWS.Early diagnosis and treatment are important for improving the prognosis of PWS.

Effect and safety of oral paracetamol in premature infants with patent ductus arteriosus / 实用医学杂志

Objective To investigate the clinical effect and safety of paracetamol in premature infants with patent ductus arteriosus(PDA). Method A protrospective comparsion study was performed onthe data of premature infants with PDA. Seventy-two premature infants with echocardiographically comfirmed PDA were randomized into the oral paracetamol group(n1=18) and the ibuprofen group(n2=54), and the rate of ductal closure, side effects and complications were compared between the two groups. Results The ductus was 66.7% (12 infants) in the paracetamol group, which was similar to 70.4% (38 cases) in the ibuprofen group, with no significant difference(χ2=0.087,P=0.768).Except for the incidence of hyperbilirubinemia in the paracetamol group was higher than that in the ibuprofen group (P0.05), including oliguria,NEC,renal impairment,the incidence of IVH3-4 and gastrointestinal bleeding. Conclusions The clinical effect of paracetamol in premature infants with PDA is similar to that of ibuprofen , withlower incidence of hyperbilirubinemia, and paracetamol is worthy of amplication in clinical practice.

Clinical and neuroimaging futures of chorea due to nonketotic hyperglycemia:7 cases report / 中华神经科杂志

Objective To investigate the clinical and neuroimaging futures of chorea due to nonketotic hyperglycemia.Methods Seven cases of chorea due to nonketotic hyperglycemia were clinically examined and underwent brain CT and MRI as well.Results Investigations revealed uncontrolled diabetes with absent ketones of 7 cases.They all presented with sudden onset hemiachorea or bilateral chorea or generalized chorea.The CT scan of brain could find abnormal lesions in our cases.Hyperintense lesions in the basal ganglia,on T1 WI of MRI were demonstrated in our study.Pure drugs was unable to control chorea.The symptoms of chorea and neuroimaging lesions were normal after the hyperglycemia being controlled.Conclusions Chorea caused by nonketotic hyperglycemia is mainly found in aged people with diabetes mellitus in a mechanism of causing striatal neuronal dysfunction,presenting charicristic CT scan or MRI of brain.Chorea should be considered potentially reversible when associated with nonketotic hyperglycemia,for rapid detection and early correction of hyperglycemia could lead to complete recovery of these involuntary movements.

The value of gradient echo T2*-weighted imaging for detection of familial cerebral cavernous malformation / 中华神经科杂志

Objective To investigate the value of gradient echo T2'* -weighted imaging for detection of familial cerebral cavernous malformation (FCCM). Methods Twenty-six members in 2 families of FCCM were examined at 3.0 T by using CT, conventional MRI and GRE T2'*2'-WI sequences to detect numbers of FCCM. Results Twelve cases of FCCM were found by GRE T2'*-WI sequences. These patients all had multiple lesions(average of 23). The lesions were mainly located in ganglia area, followed by cortico-subcortical, thalamus, cerebellar and brain stem. These lesions appeared as special reticulated core of mixed signal intensity with a surrounding rim of decreased signal intensity representing bemosiderin from previous hemorrhages. The numbers of lesions (average of 5-17) and cases of FCCM (average of 3-9) examined by the conventional MRI were decreasing in the order of SE, DWI, T2FLAIR, T1WI and T2WI, each less than GRE T2'*-WI. CT only identified 3 cases with big lesions combined with hemorrhage and calcification.Conclusions GRE T2'*-WI could be a better choice of MRI sequence in diagnosing FCCM compared with CT and conventional MRI.

Clinical and neuroimaging features of hypoglycemia encephalopathy in the elderly / 中华神经科杂志

Objective To investigate the clinical and neuroimaging features of hypoglycemia encephalopathy in the elderly. Methods The history and clinical features of 36 patients who had undergone brain CT and MRI were analyzed retrospectively. Results Twenty-seven patients had infections and fevers as a trigger, presenting all kinds of symptoms. Eleven cases were found to have abnormal signals in bilateral caudate nucleus and lenticular nucleus in MRL But CT examination showed no new lesions in corresponding position. Hypoglycemia encephalopathy were commanly found in the elderly who had diabetes mellitus and treated with drugs. After being followed up for 6 months, their neuroimaging did not change. Conclusions Because the patients often present unconsciousness and weakness with a sudden onset, hypoglycemia is easily mistaken for other disorders, especially in the elderly. For those with consciousness, we should pay more attations to hypoglycemia. Brain CT has no value of diagnosing hypoglycemia encephalopathy, while MRI plays an impotant role in diagnosing the disease. The characteristic MRI features predicts a bad prognosis.

Effects of c-Jun N-terminal Kinase on Expression of Interleukin-10 in Keratinocytes Induced by Ultraviolet A / 环境与健康杂志

Objective To explore the effect of c-Jun N-terminal kinase(JNK)on the expression of interleukin-10(IL-10) in keratinocytes induced by ultraviolet A(UVA).Methods The HaCaT cells in cultured were either sham irradiated(control) or exposured to 2.4 J/cm2 UVA radiation.The cells were collected at 0-48 h after irradiation,and JNK levels in cells were detected with the immunofluorescence.HaCaT cells were treated with SP600125(a JNK inhibitor) before irradiation,then cells and suspended medium were collected at each time-point after irradiation,and the expression of IL-10 mRNA and protein were determined by RT-PCR and ELISA.Results Compared with control cells,irradiated cells had increased levels of phospho-JNK throughout the entire 48 h following irradiation(P