Rationale for issuing neuroimaging requests for patients with primary headaches in China.

OBJECTIVE: To investigate the prevalence of neuroimaging in patients with primary headaches and the clinician-based rationale for requesting neuroimaging in China. DATA SOURCES AND STUDY SETTING: This study included patients with primary headaches admitted to hospitals and clinicians in China. We identified whether neuroimaging was requested and the types of neuroimaging conducted. STUDY DESIGN: This was a cross-sectional study, and convenience sampling was used to recruit patients with primary headaches. Clinicians were interviewed using a combination of personal in-depth and topic-selection group interviews to explore why doctors requested neuroimaging. DATA COLLECTION: We searched for the diagnosis of primary headache in the outpatient and inpatient systems according to the International Classification of Diseases-10 code of patients admitted to six hospitals in three provincial capitals by 2022.We selected three public and three private hospitals with neurology specialties that treated a corresponding number of patients. PRINCIPLE FINDINGS: Among the 2263 patients recruited for this study, 1942 (89.75%) underwent neuroimaging. Of the patients, 1157 (51.13%) underwent magnetic resonance imaging (MRI), 246 (10.87%) underwent both head computed tomography (CT) and MRI, and 628 (27.75%) underwent CT. Fifteen of the 16 interviewed clinicians did not issue a neuroimaging request for patients with primary headaches. Furthermore, we found that doctors issued a neuroimaging request for patients with primary headaches mostly, to exclude the risk of misdiagnosis, reduce uncertainty, avoid medical disputes, meet patients' medical needs, and complete hospital assessment indicators. CONCLUSIONS: For primary headaches, the probability of clinicians requesting neuroimaging was higher in China than in other countries. There is considerable room for improvement in determining appropriate strategies to reduce the use of low-value care for doctors and patients.

Diagnosis and long-term follow-up of 4-hydroxy butyrate aciduria in 9 cases / 中华实用儿科临床杂志

Objective@#To study the clinical and laboratory diagnosis and follow-up of 4-hydroxy butyrate aciduria in children.@*Methods@#From June 2012 to July 2017, 9 cases in Tianjin Children′s Hospital were analyzed.According to their clinical features, multidimensional analysis was performed by using head magnetic resonance imaging (MRI), urine gas chromatography-mass spectrometry (GC/MS) semi-quantitative testing and gene mutation analysis of ALDH5A1.@*Results@#The onset age of the 9 cases was less than 1 year old, and all had psychomotor retardation, in which 4 cases with epileptic seizures, 1 case with consciousness disturbance and 1 case with involuntary movement.All the cases underwent head MRI and 4 cases showed bilateral symmetry pallidal lesions, including 1 case with symmetry abnormality of the midbrain cerebral peduncle, 1 case with encephalomalacia in left temporal cortex and 4 cases with widening of the ventricle and extracerebral space.By the urine GC/MS semi-quantitative testing, all 9 the cases showed increasing 4-hydroxy butyric acid and by the ALDH5A1 gene mutation analysis, all 9 the cases were detected with gene mutation (3 cases belonging to c. 1568C>T homozygous mutation, 1 case belonging to c. 839T>G homozygous mutation and the other 5 cases belonging to compound heterozygous mutation, which included c. 691G>A, c.1568C>T; c.1383_2delA, c.1568C>T; c.527G>A, c.691G>A; c.904G>A, c.1022C>A; c.398_399delA, c.638G>T). Nine cases were given symptomatic treatment, and 4 cases with epileptic seizures were given antiepileptic drugs.During the follow-up of the above 9 cases, 1 case died of status epilepticus, 1 case had been under control for 5 years, and 2 cases were effectively treated.Psychomotor retardation was improved in varying degrees in 8 cases.Involuntary movement disappeared in 1 case while 2 cases still showed increasing 4-hydroxy butyric acid by means of urine GC/MS semi-quantitative testing.@*Conclusions@#Most of 4-hydroxy butyrate aciduria occurs within 1 year old, with psychomotor development as the first manifestation, which can be associated with epilepsy.The head MRI is characte-rized by a symmetrical Globus pallid abnormal signal.Urine GC/MS shows an increase in 4-hydroxy butyrate, which is the basis for biochemical diagnosis of the disease.Its accumulation in the body mainly damages the central nervous system.ALDH5A1 is a disease-causing gene, in which c. 1568C>T site has a high mutation frequency, and it is speculated that this site may be a hot spot mutation in Chinese children.Patients with epilepsy may die from status epilepticus and may be used as a clinical indicator to judge the severity of the disease.There is no specific treatment, and the patients combined with epilepsy can be treated with anti-epileptic drugs.Valproic acid should be avoided as it can aggravate the condition.

Diagnosis and long-term follow-up of 4-hydroxy butyrate aciduria in 9 cases / 中华实用儿科临床杂志

Objective To study the clinical and laboratory diagnosis and follow-up of 4-hydroxy butyrate aciduria in children.Methods From June 2012 to July 2017,9 cases in Tianjin Children's Hospital were analyzed.According to their clinical features,multidimensional analysis was pedormed by using head magnetic resonance imaging (MRI),urine gas chromatography-mass spectrometry (GC/MS) semi-quantitative testing and gene mutation analysis of ALDH5A1.Results The onset age of the 9 cases was less than 1 year old,and all had psychomotor retardation,in which 4 cases with epileptic seizures,1 case with consciousness disturbance and 1 case with involuntary movement.All the cases underwent head MRI and 4 cases showed bilateral symmetry pallidal lesions,including 1 case with symmetry abnormality of the midbrain cerebral peduncle,1 case with encephalomalacia in left temporal cortex and 4 cases with widening of the ventricle and extracerebral space.By the urine GC/MS semi-quantitative testing,all 9 the cases showed increasing 4-hydroxy butyric acid and by the ALDH5A1 gene mutation analysis,all 9 the cases were detected with gene mutation (3 cases belonging to c.1568C ＞ T homozygous mutation,1 case belonging to c.839T ＞ G homozygous mutation and the other 5 cases belonging to compound heterozygous mutation,which included c.691G ＞ A,c.1568C ＞T;c.1383_2delA,c.1568C ＞ T;c.527G ＞ A,c.691G ＞ A;c.904G ＞ A,c.1022C ＞ A;c.398_399delA,c.638G ＞ T).Nine cases were given symptomatic treatment,and 4 cases with epileptic seizures were given antiepileptic drugs.During the follow-up of the above 9 cases,1 case died of status epilepticus,1 case had been under control for 5 years,and 2 cases were effectively treated.Psychomotor retardation was improved in varying degrees in 8 cases.Involuntarymovement disappeared in 1 case while 2 cases still showed increasing 4-hydroxy butyric acid by means of urine GC/MS semi-quantitative testing.Conclusions Most of 4-hydroxy butyrate aciduria occurs within 1 year old,with psychomotor development as the first manifestation,which can be associated with epilepsy.The head MRI is characterized by a symmetrical Globus pallid abnormal signal.Urine GC/MS shows an increase in 4-hydroxy butyrate,which is the basis for biochemical diagnosis of the disease.Its accumulation in the body mainly damages the central nervous system.ALDH5A1 is a disease-causing gene,in which c.1568C ＞ T site has a high mutation frequency,and it is speculated that this site may be a hot spot mutation in Chinese children.Patients with epilepsy may die from status epilepticus and may be used as a clinical indicator to judge the severity of the disease.There is no specific treatment,and the patients combined with epilepsy can be treated with anti-epileptic drugs.Valproic acid should be avoided as it can aggravate the condition.

Emergency Department Use of Neuroimaging in Children and Adolescents Presenting with Headache.

OBJECTIVES: To evaluate emergency department use and outcomes of neuroimaging for headache in a free-standing children's hospital system. STUDY DESIGN: We prospectively enrolled children aged 6-18 years who presented to the emergency department with a chief complaint of headache from September 2015 to September 2016. Standardized data collection was performed in real time, including telephone follow-up as needed, and imaging outcome was determined through a chart review. Using multivariable logistic regression, we estimated the associations between clinically important patient characteristics and neuroimaging. RESULTS: Of 294 enrolled patients, 53 (18%) underwent neuroimaging (computed tomography or magnetic resonance imaging) and 2 (0.7%) had clinically important intracranial findings. Presenting with abnormal neurologic examination findings (OR, 11.55; 95% CI, 3.24-41.22), no history of similar headaches (OR, 2.13; 95% CI, 1.08-4.18), and white race (OR, 3.04; 95% CI, 1.51-6.12) were significantly associated with an increased odds of undergoing imaging in multivariable regression models. CONCLUSIONS: Our observed emergency department imaging rate was 26.5 times higher than our positive result rate, suggesting there is room to decrease unnecessary neuroimaging. Associations for abnormal examination and new headache type are consistent with the American Academy of Neurology clinical imaging recommendations. The increased odds of imaging white patients suggests bias that should be addressed. The low rate of positive findings supports the need for an evidence-based clinical decision tool for neuroimaging in the acute care setting.

Region-specific reductions in brain apparent diffusion coefficient in cytomegalovirus-infected fetuses.

OBJECTIVE: To evaluate the effects of cytomegalovirus (CMV) infection on apparent diffusion coefficient (ADC) values of the fetal brain in utero. METHODS: In this retrospective analysis we compared 58 fetal head magnetic resonance imaging (fhMRI) scans of PCR-verified CMV-infected fetuses, obtained in 2008-2012, with those of a normal control group of 36 gestational age (GA)-matched uninfected fetuses scanned between 2006 and 2012. Estimated GA at infection ranged from 1 to 32 weeks, and fhMRI was performed at 24 to 38 weeks. The frontal, parietal, temporal and occipital lobes (mainly white matter), basal ganglia, thalamus, pons and cerebellum were analyzed by assessing ADC values. Two pregnancies were terminated and postmortem confirmation was available in these cases. RESULTS: ADC values of CMV-infected fetuses correlated significantly and negatively with GA in all brain regions except the basal ganglia. The cerebellum had the greatest reduction (r = -0.52, P < 0.0001). Maternal age correlated positively with ADC in the frontal lobe (P < 0.05). GA at infection and overt pathological changes did not affect ADC significantly. Compared with non-infected fetuses, ADC values of affected fetuses were significantly reduced in the frontal (P < 0.0001), parietal (P < 0.0001), occipital (P = 0.0005) and temporal (P = 0.001) lobes and thalamus (P = 0.006). CONCLUSION: CMV infection of the fetal brain results in a highly significant, region-dependent reduction of ADC values in the frontal, parietal, occipital and temporal lobes and thalamus, probably reflecting hypercellularity and inclusion bodies in damaged areas. Further studies are needed to determine if reduction in ADC values may serve as a prognostic factor in CMV-infected fetuses. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.