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

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.

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 analyze the role of postmastectomy radiotherapy in different molecular subtypes of breast cancer patients with Stage T1 -T2 and one to three positive axillary nodes. MethodsA total of 436 breast cancer patients with T1 -T2 and one to three positive axillary lymph nodes treated with mastectomy and axillary dissection were retrospectively analyzed. Patients were grouped as the following four subtypes:Luminal A, Luminal B, Her2+ and triple-negative. The local recurrence (LR), distant metastasis ( DM ), disease free survival (DFS) and overall survival (OS) rates were compared between paitents with or without radiotherapy in univariate analyses. Multivariate analyses for LR were performed. Results The follow-up rate was 86. 0％. In patients with Luminal A subtype, radiotherapy decreased the 5-year LR rate (4.6％ vs 15.8％ ,x2 =5.74,P=0.017) but had no influences on DM, DFS or OS rates (17.2％ vs 19.7％,x2 =0. 17,P=0.682;77.0％ vs 67. 1％ ,x2 =1.99,P=0. 158 or87.4％:85. 5％ ,x2 =0. 12,P=0. 733 ). In patients with Luminal B subtype, radiotherapy decreased the 5-year LR rate (3.7％ vs 12. 1％,x2 =4. 13, P =0. 042), increased DFS and OS ( 84. 0％ vs 57.6％ ( x2 =14.61, P =0. 000) and 91.4％ vs 70. 7％ ( x2 =11.87, P =0. 001 ), but had no influence on DM ( 12. 3％ vs 22. 2％, x2 =2. 97, P =0. 085).In patients with Her2+ subtype, radiotherapy decreased the 5-year LR rate (5. 6％ vs 31.0％ ,x2 =4. 31,P=0. 035) , increased DFS (61. 1％ vs 13. 8％ ,x2 =11.44,P=0.001 ) ,but had no influence on DM and OS (27.8％ vs 41.4％, x2 =0. 89, P =0. 345 and 66. 7％ vs 48. 3％, x2 =1.52,P =0. 218 ). In patients with triple-negative subtype, radiotherapy had no influence in LR, DM, DFS or OS (8. 7％ vs 26. 1％ ,x2 =2.42,P=0.120;39.1％ vs47.8％,x2=0.35,P=0.552;52.2％ vs 26.1％ , x2 =3. 29, P =0. 070 or 65.2％ vs 56. 5％ ,x2 =0. 37 ,P =0. 546). Tumor size and radiotherapy were independent prognostic factors for LR rate in multivariate analyses ( x2 =4. 76, P =0. 029 and x2 =8.06, P =0. 005 ). ConclusionsFor patients with stage T1 -T2 and one to three positive axillary nodes, patients with all molecular subtypes except triple-negative can benefit from postmasteetomy radiotherapy.

Objective To evaluate the prognosis in patients with hepatocarcinoma by examining the expression of α-fetoprotein (AFP) and des γ prothrombin (DCP).Methods Retrospectively analyzed the expression of AFP and DCP in 105 patients received curative hepatectomy.Divided the patients into three groups as follow:the tumor markers were both negative pre-and post-operation (Group N) ; the tumor markers decreased to normal after operation (Group D) ; the tumor markers kept positive or decreased but still higher positive after operation (Group P).Then combined the two markers and divided the patients into 4 groups:two markers both negative(AFP + DCP +)(Group A) ; AFP + DCP-(Group B) ; AFP-DCP + (Group C) ; AFP-DCP-(Group D).Results High AFP and DCP levels were significantly associated with poor tumor-free and overall survival.The presence of large size and advanced stage were significantly associated with Group P.Overall survival in the AFP-N group was significantly better than that of other groups and overall survival in DCP-N group were significantly better than that of the P group.After the combination,Group A had the best overall and tumor free survival rate while the D group had the worst.The differences between B and C group were not significant.Conclusions AFP and DCP can be both used solely as tumor markers and the expressions of them are associated with the prognosis.The combination of two markers can be used for better prediction of hepatocarcinoma.

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.

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.