Inheirted metabolic disodrers(IMD)involves in multiple substance dysbolism,which usually results in irreversible neurological lesions because of various categories and complicated clinical manifestations.In resent years,IMD became one of the hot spots in medical domain around the world,original diagnostic technique and management progressed unceasingly.This paper provides an overview of the traditio-nal detection and treatment about IMD,and reviews the new techniques such as gene analysis,gene chip,organ transplantation and enzyme replacement therapy at the same time.

Agenesis of Corpus Callosum ; Chromosomes, Human, X ; Gene Deletion ; Glycerol Kinase ; genetics ; Humans ; Infant ; Male ; Syndrome

Objective To summarize imaging features of Kallmann syndrome (KS) in children and to improve diagnostic level of the disease.Methods The imaging manifestations of 13 patients with clinically proved KS were retrospectively studied.MRI of rhinencephalon and left wrist X-ray examinations were performed in all the 13 children.Ultrasound of abdomen and pelvis was implemented in the 8 of 13 patients.Results All the patients had abnormalities of olfactory system.Bilateral olfactory bulbs and tracts were absent in 9 patients.Unilateral olfactory bulbs and tracts were absent in 4 patients,in which contralateral olfactory bulbs and tracts were hypoplastic.These patients presented 2 aplastic,17 hypoplastic and 7 normal olfactory sulci.Anterior pituitary was hypoplastic in 3 patients.Bone age showed retardation in 6 of 13 patients.Bilateral testicles were small in all the 8 cases by ultrasound.Conclusions Aplastic or hypoplastic olfactory bulbs and tracts and sulci are seen in children with KS.Anterior pituitary dysplasia is present in part of patients and bone age backward happens in approximate half of the children.

Hepatic encephalopathy is a common metabolic neuropsychiatric syndrome in the development of end-stage liver disease. Since the concept of intestinal-liver-brain axis was proposed, the relationship between the pathogenesis of hepatic encephalopathy and the gut microbiota has been a hot research topic. In recent years, studies have confirmed that gut microbiota is involved in and affects various pathological processes of hepatic encephalopathy. This article combines the latest research progress at home and abroad to elaborate on the research status of regulating gut microbiota and thus interfering with the pathological process of hepatic encephalopathy, hoping to provide new ideas and methods for the intervention of hepatic encephalopathy based on the regulation of gut microbiota.

Adenoma, Sweat Gland ; pathology ; Adult ; Female ; Humans ; Immunohistochemistry ; Leg ; pathology ; Skin Neoplasms ; pathology

OBJECTIVETo evaluate the application of shear wave elastography (SWE) combined with transition zone biopsy in the detection of prostate cancer (PCa).

METHODSA total of 489 patients with suspected PCa underwent transrectal ultrasonography (TRUS) and SWE-guided prostatic biopsy. We evaluated the role of SWE combined with transition zone biopsy in promoting the detection rate in comparison with the results of biopsy pathology.

RESULTSThe pathological results confirmed 221 malignant and 268 benign cases. Based on systematic biopsy, SWE combined with transition zone biopsy achieved a detection rate of 45. 19% , significantly higher than that of systematic biopsy alone (33.13%) (P < 0.05). The diagnostic sensitivity, specificity, and accuracy of SWE were significantly better than those of TRUS (P < 0.05). The mean elasticity (Emean) of SWE was remarkably higher for malignant than for benign lesions ([40.1 ± 9.5] vs [21.6 ± 8.3] kPa, P < 0.05). With 28.5 kPa as the threshold of the Emean value, the area under the ROC curve was 0. 899, and the diagnostic sensitivity and specificity were 88.71% and 86.23%, respectively.

CONCLUSIONSWE combined with transition zone biopsy could significantly improve the detection rate of prostate cancer.

Elasticity Imaging Techniques ; methods ; Humans ; Image-Guided Biopsy ; methods ; Male ; Prostate ; pathology ; Prostatic Neoplasms ; diagnosis ; diagnostic imaging ; pathology ; ROC Curve ; Sensitivity and Specificity

Objective Innovate scientific research management thinking,explore new scientific research management models,and enhance hospital's competitiveness.Methods The hospital insistently adheres to the path of science and education hospital development in the practice of scientific research management,and takes measures of creating academic atmosphere,innovating management concept,rationalizing incentive measures,setting supporting policies,and so on.Results The hospital has gained certain progress in the fields of key discipline construction,research project,talent plan,scientific and technological achievements,etc.Conclusions The path of science and education hospital development plays an important role in the further healthy and sustainable development of hospital.

Objective To demonstrate the clinical and imaging features of extrarenal malignant rhabdoid tumor (MRT) outside the central nervous system(CNS) in children and to raise awareness of the disease.Methods A retrospective database review was made of 15 patients diagnosed with extrarenal MRT outside the CNS in Beijing Children's Hospital,Capital Medical University from April 2008 to February 2017.The ultrasound,CT and magnetic resonance imaging(MRI) examinations were performed in 12,10 and 7 cases,respectively,and the clinical and imaging features were analyzed.Results The 15 patients included 8 boys and 7 girls.The age at presentation varied from 11 days to 12 years and 9 months old with a median age of 4 years old.The primary tumors were predominant solid masses,most of which were irregular,with a length of 2.20-11.70 cm [(5.87 ± 2.57) cm].The primary tumors had variable locations,relatively tended to occur in the head and neck region (6 cases) and the mediastinum (4 cases).On ultrasound,11 cases of the tumors were heterogeneous,7 cases of the tumors were accompanied with cystic change,and the solid part was mainly hypoechoic.On CT,density of 6 cases of the tumors was uneven,3 cases presented cystic change,4 cases were with calcification,and the solid part had slightly low density,with enhancement of different degrees.On MRI,7 cases of tumors showed mixed signal,5 cases with cystic change of different degrees;the solid part mainly showed isointensity or slightly hypointensity on T1 weighted image and hyperintensity or slightly hyperintensity on T2 weighted image,with restricted diffusion and predominantly heterogeneous enhancement.Medical imaging showed definite hemorrhage within tumors in 5 patients,and metastases occurred in 6 patients at the time of diagnosis,the adjacent bone destruction occurred in 3 patients,and the tumor tissue of 3 patients extended into the spinal canal.Conclusion Extrarenal MRT outside the CNS is more common in preschool kids,most of which are large and heterogeneous solid masses,often with cystic change,sometimes with hemorrhage and calcification;the solid part with restricted diffusion and inhomogeneous enhancement.Some of the patients had metastasis and local invasion.

Objective To assess the value of functional magnetic resonance urography (fMRU)for the unilateral renal function in children with hydronephrosis.Methods Fourteen children with congenital hydronephrosis (unilateral hydronephrosis in 1 2 cases,bilateral hydronephrosis in 2 cases)examined by fMRU in Beijing Children′s Hospital,Capital Medical University,were enrolled.In 7 patients of them,diuretic renal scintigraphy (DRS)was per-formed within 1 0 days before fMRU examination.The following parameters in fMRU,as renal parenchymal volume,volu-metric differential renal function (vDRF),Patlak,Patlak differential renal function (pDRF),index of glomerular filtra-tion rate (GFR)and differential renal function based on index of GFR (gDRF),were calculated and analyzed.Statisti-cal analysis was performed by using SPSS 1 3.0.Results In 7 cases whose fMRU and DRS were examined,the indexes of GFR obtained from fMRU and GFR from DRS were well correlated (r =0.892,P <0.001 )in 1 4 kidneys.The gDRF determined by 2 methods on the left kidneys[the average was(46.80 ±1 9.20)% and(45.1 8 ±20.29)%,respective-ly]had no significant difference (t =0.051 6,P =0.624),which was also highly correlated (r =0.91 2,P =0.004). In 1 2 cases with unilateral hydronephrosis,vDRF,pDRF,index of GFR and gDRF in hydronephrotic side[(43.54 ± 9.61 )%,(42.80 ±1 0.83)%,(38.56 ±29.23)mL/min,(38.37 ±1 3.61 )%]were all less than those in the con-tralateral side[(56.46 ±9.61 )%,(57.1 9 ±1 0.83)%,(57.02 ±26.22)mL/min,(61 .63 ±1 3.61 )%](t =2.326, 2.300,2.422,2.960;P =0.040,0.042,0.034,0.01 3).However,there was no statistical difference in both renal pa-renchymal volume and Patlak between the hydronephrotic and the contralateral side kidneys(t =1 .765,1 .450;P =0.1 05,0.1 75).Conclusions fMRU is a very valuable examination method in evaluating single kidney function in children with congenital hydronephrosis,and able to demonstrate that gDRF,indexes of GFR,vDRF and pDRF decrease in the hydronephrotic kidney.

Objective To investigate the clinical and neuroimage characteristics of reversible posterior leukoencephalopathy syndrome (RPLS) in Chinese elderly patients. Methods The characteristic clinical presentation and neuroimaging of 5 elderly patients with RPLS were retrospectively analyzed. Results There were one male and four females in this study, with the average age of (63.0±2.4) years, all combined with hypertension. The most common clinical presentations were abnormality of visual perception (5 cases), headache (4 cases), epileptic seizure (4 cases), disturbance of consciousness (3 cases), pathological reflex (2 cases) and hemiplegia (2 cases). CT scan showed 4 cases with low density lesions. MR1 scan showed 5 cases with occipital lobe lesions, 2 with parietal lobe lesions and 1 with temporal lobe lesions. Re-examination of CT scans showed that 4 survived patients became normal at mean (48.8±29.2) days after discharging from hospital. Conclusions The etiologies of RPLS are diverse. The vasogenic theory is supported by neuroimage of RPLS. Neuroimage may be very important for the diagnosis of RPLS. Diffusion-weighted imaging and apparent diffusion coefficient map may be helpful for differential diagnosis between RPLS and cerebral infarct.