A case of poikiloderma with neutropenia and mutation analysis of the USB1 gene / 中华皮肤科杂志

A 13-year-old male patient presented with skin abnormalities for more than 10 years and slow growth in body height for more than 5 years. Since the age of 6 months, erythema and scales had occurred on the extremities, and gradually spread to the trunk and face; brown pigmentation and punctate depigmentation appeared after subsidance of the erythema and scales, accompanied by dental caries, thickened palms and soles, nail thickening and peeling. Since the age of 6 years, the patient had presented with slow growth in body height, gonadal dysgenesis, sparse eyebrows and eyelashes, flat cheekbones and lameness in walking. In the past 10 years, neutrophil count had been found to be continuously lower than the normal reference value. Blood routine examination showed a neutrophil count of 1.1 × 10 9/L and a neutrophil proportion of 0.345; serum level of testosterone in the patient (< 0.087 nmol/L) was lower than normal levels. DNA was extracted from the peripheral blood of the patient and his parents, and gene mutation analysis was carried out by using whole-exome sequencing technology. Genetic testing showed compound heterozygous mutations in the USB1 gene of the patient, including the c.450-2A>G mutation inherited from his mother and the c.335de1G mutation inherited from his father, and the c.335de1G mutation had not been reported in China and other countries.

The study on the implicit memory in patients with Alzheimer disease / 中国神经精神疾病杂志

Objective To explore the characteristics of conceptual priming and perceptual priming in patients with Alzheimer's disease (AD). Methods The implicit memory (conceptual repetition priming and perceptual repetition priming) and Neuropsychological (DS, VFT, CTT interference time) tests were conducted on 30 aMCI patients, 30 AD patients and 30 normal elderly people. Results Compared with the normal elderly group and the aMCI group, DS, VFT, CTT interference time and conceptual repetition priming of AD patients were lower than those in the normal elderly group (P<0.01). However, perceptual repetition priming was no statistically significant among the groups (P>0.05). Conclusion AD patients have impairments on the conceptual repetition priming , DS, VFT, CTT interference time and implicit memory and the decrease in the frontal lobe function may be an important neurological basis for AD.

Study of MRI in congenital anorectal malformation / 实用放射学杂志

Objective To investigate the value of MRI on the perianal muscles developmental situation and associated malformations in congenital anorectal malformation.Methods The MRI features of 37 cases with congenital anorectal malformation were analyzed retrospectively.All of them were performed pelvic MRI,and 28 cases were underwent lumbosacral MRI additionally.Results Of the 37 cases,there were 9 cases with muscle belly slim and 6 cases with bilateral asymmetry of the levator ani muscle;12 cases with muscle belly slim,5 cases with bilateral asymmetry and 6 cases with irregular shape of anal sphincter.There was 1 case of ectopic kidney and fused kidney,8 cases of sacrum and coccyx vertebra deformation,4 cases of lipoma of filum terminale,3 cases of low cone,1 case of tethered cord,2 cases of cyst of coni medullaris and 3 cases of syringomyelus.There were 1 7 cases with fistula in congenital anorectal malformation proved by surgery,including 10 cases of urethral fistula,3 cases of bladder fistula,2 cases of perineal fistula,2 cases of vaginal fistula.9 cases with fistula could be clearly demonstrated on MRI,the others could not be visualized clearly. Conclusion MRI can clearly show the perianal muscles developmental situation and associated malformations in congenital anorectal malformation.MRI has high clinical value in congenital anorectal malformations.

Professor ' clinical experience of stage treatment for shoulder-hand syndrome after stroke / 中国针灸

Professor , as the famous and veteran physician of TCM, has practiced TCM for more than 50 years, and had unique experience for the treatment of encephalopathy. Professor applied the theory of skin to guide the treatment of shoulder-hand syndrome after stroke. On the basis of the ancient acupuncture method of , combined with modern acupuncture method and new materials, with characteristics of shoulder-hand syndrome after stroke at different time points, he proposed to use floating needling and acupoint catgut embedding to treat patients with stageⅠ, and to use picking therapy and penetration needle to treat patients with stageⅡ, and to use fire needles, penetration needle and acupoint catgut embedding to treat patients with stageⅢ, combined with conventional acupuncture and rehabilitation treatment. As a result, the superior efficacy was achieved.

Diagnosis and classification of abdominal enterogenous cysts in infant / 实用放射学杂志

Objective To explore the definition,classification and imaging characteristics of abdominal enterogenous cysts in in-fant.Methods 18 patients with abdominal enterogenous cyst in infant,confirmed by surgical pathology,with complete imaging data (including ultrasonography,CT and enhanced CT),have been enrolled in the study.The imaging findings and pathological character-istics have been analyzed,and the classification of diagnosis has been conducted.Results According to the positions and imaging fea-tures of the pathological changes,abdominal enterogenous cysts could be further classified as:gastrointestinal wall type,mesenteric type and retroperitoneal type.In this study,gastrointestinal wall type in 1 1 patients (outside intestinal wall in 2,inside intestinal wall in 8,and outside gastric wall in 1);mesenteric type in 4 and retroperitoneal type in 3 were identified.Conclusion Classification of diagnosis can be conducted according to the enterogenous cyst’s special imaging findings,which provides a reference for the surgical operation.

The application of diffusion tensor imaging and diffusion tensor tractography in the perioperative assessment of tumors involving brainstem / 中华放射学杂志

Objective To explore the value of diffusion tensor imaging (DTI) and diffusion tensor tracography (DTT) in assessment of Corticospinal tract (CST) and medial lemniscus (ML) in tumors involving brainstem.Methods A total of 35 cases with pathologically confirmed tumors involving brainstem were collected,and 35 volunteers matched with genders and ages were recruited as the normal group.DTI scanning was performed on all the patients and controls.The damage degrees of CST and ML were evaluated and graded by DTT,and the dysfunction degrees were evaluated for the patients.Spearman correlation was used to statistically analyze the relationships of limb movement,sensory dysfunction and CST and ML damage.Results According to the rating results,normal findings,shifting,edema or infiltration and damage of CST was found in 9,9,11,and 6 cases respectively.They were 8,9,15,3 cases for ML.Motor function was normal in 20 cases,slightly defective in 11 cases,and moderate defective in 4 cases.Sensory function was normal in 21 cases,slightly defective in 6 cases,and moderate defective in 8 cases.The patients' dyskinesia and CST damage degree,sensory dysfunction and ML damage degree were positively correlated (r was 0.786 and 0.686 respectively,P ＜ 0.01).The position relationship among tumor and CST and ML could be well displayed on images.None of the patients showed new symptoms of dysneuria after surgery.Conclusions DTI and DTT technology can be used to evaluate CST and ML damage degree in tumors involving brainstem.They can display the position relationship between tumor and the brainstem CST and ML,which is important in protecting the brainstem fiber tract during operation and evaluating the recovery after the operation.

Regulation of cyclin E and cancers / 国际肿瘤学杂志

Cyclin E is expressed starting from the middle G1 phase of the cell cycle,and is accumulated in the G1/S boundry.Cyclin E binds to and activates the cyclin-dependent kinase CDK2.Cyclin E-CDK2 complex initiates a cascade of events that leads to DNA replication by phosphorylating its substrates,such as Rb,CDC6,NPAT and P107,etc.Additionally,cyclin E plays an important role in the regulation of genomic stability,spindle-organizing structure and centrosome cycle.Cyclin E expression is trans-activated by members of the transcription factor E2F family and degrades via the ubiquitin-proteasome pathway.At the same time,it is also negatively regulated by the CIP/KIP proteins.Cyclin E highly expressed in the initiation and progression of different human cancers,such as breast cancers,lung cancers,leukemia,lymphomas and others.

Executive function and working memory of patients with mild cognitive impairment / 中华神经科杂志

Objective To investigate the characteristics of the executive function and working memory in patients with mild cognitive impairment (MCI), and the relations between working memory and executive function and the effects of working memory on patient' s daily functioning.Methods Thirty patients with MCI and 30 healthy elderly subjects were tested with a wide neuropsychoingical battery of tests including those of executive function, working memory and other cognition domain tests.Executive function was evaluated by using the verbal fluency test (VFT), color trail test (CTT), digital span (DS).Results The results showed the presence of significant executive function and working memory impairment in MCI patients as compared with the healthy controls.The scores of executive function test in MCI patients were decreased significantly in CTT (130.8±58.2 vs 52.0±13.5), CTT-B (210.2±81.8 vs 121.0±33.4),DS (3.4±0.9 vs 4.2±1.1), VFT (8.9±5.4 vs 16.4±5.4) and visuo-objective working memory (0.73±0.12 vs 0.85±9.18) respectively (t = 7.108, 5.159,-2.544,-4.879, and-4.351, all P <0.01 or P < 0.05) .In the stepwise liner regression analysis objective working memory test made a significant independent contribution to ADL (β =-0.720, t =-3.571, P < 0.01).Conclusion The patients with MCI have the deficit in executive function and working memory.Visuo-objective working memory is closely correlated with general cognitive function such as daily function, resulting in daily function decline.