A Young Woman with Leukoencephalopathy and Significant Corpus Callosum Atrophy / 罕见病研究

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare autosomal-dominant progressive leukodystrophy, caused by mutations of colony stimulating factor-1 receptor (CSF1R) gene. Age of onset is usually between 40 and 50 years old and the clinical presentations include dementia, apraxia, behavioral changes, pyramidal and extrapyramidal signs. Varying clinical manifestations have led to misdiagnoses. Magnetic resonance imaging (MRI) typically reveals white matter changes with T2-Flair/DWI hyperintensity and atrophy especially for thinning of the corpus callosum. Here, we report a young woman experiencing hypomnesia for 2 years with lower extremities weakness and rigidity for 1 month. Considering the evidence of clinical manifestations, imaging and genetic test, this patient was diagnosed with ALSP.

The research of VEPH1 regulates epithelial mesenchymal transition and proliferation of melanoma cells through the TGF-β signaling pathway / 中国医师杂志

Objective:To investigate the intervention effect of ventricular zone expressed PH domain-containing 1 (VEPH1) on epithelial mesenchymal transition (EMT) and proliferation of human cutaneous melanoma (CM) cells based onthe transforming growth factor-β (TGF-β) signaling pathway.Methods:The melanoma cells were cultured in vitro. After transfecting the melanoma cells with overexpression or interference plasmids of VEPH1 or TGF-β overexpression plasmids, or treating the cells with SB-431542 (TGF-β pathway inhibitor), we detected the expression of genes and proteins relevant to VEPH1, TGF-β, and EMT by quantitative reverse transcription polymerase chain reaction (qRT-PCR) and Western blot to observe the effect of these proteins on CM cell proliferation. Results:qRT-PCR results showed that the expression of VEPH1 in melanoma cells (B16-BL6, B16 and A375 cells) was significantly lower than that in HaCaT cells, and the lowest expression was found in A375 cells, so A375 cells were selected for follow-up experiments. After transfection with VEPH1 overexpression plasmid or SB-431542, the mRNA and protein expression of E-cadherin in A375 cells were significantly increased, the mRNA and protein expressions of TGF-β, Smad4, N-cadherin and vimentin were significantly decreased, and the cell proliferation was significantly decreased ( P<0.05). Compared with the VEPH1 vector group, the expression of TGF-β, Smad4 and N-cadherin in the VEPH1 vector+ SB-431542 group was significantly reduced ( P<0.05); the expression of E-cadherin was increased, and the cell proliferation was also significantly decreased ( P<0.05). The expression of TGF-β, Smad4, N-cadherin and vimentin were increased after co-transfection with VEPH1 vector, while the expression of E-cadherin was decreased, and the cell proliferation was also enhanced ( P<0.05). The expression of VEPH1 in A375 cells was significantly decreased after transfection with si-VEPH1 plasmid, while that in SB-431542 and TGF-β vector group was not significantly decreased. Conclusions:VEPH1 can inhibit human CM cells by the intervention on TGF-β signaling pathway. This study reveals the potential of VEPH1 as a diagnostic, prognostic and therapeutic target for CM.

Expression of Erbin in esophageal squamous cell carcinoma and its relationship with patient prognosis / 中国肿瘤临床

To explore the significance of Erbin expression in esophageal squamous cell carcinoma (ESCC) and its relation-ship with patient prognosis. Methods: Erbin expression in a tissue chip containing samples from 299 cases were examined using immu-nohistochemistry; in addition, the relationship between Erbin expression and clinical-pathological parameters and patient survival time were also analyzed. Cox regression was used to predict the risk of clinical-pathological parameters. The mRNA and protein expres-sion of Erbin was also determined in 25 cases with paired ESCC and normal tissues through polymerase chain reaction (PCR) and West-ern blot. Results: The expression of Erbin protein and mRNA in ESCC were significantly higher than those of normal esophageal epithe-lium adjacent to cancer (55.2% vs. 0, P<0.05). The high expression of Erbin in ESCC was closely related to TNM stage (64.9% vs. 47.3%, P=0.002) and lymph node metastasis (65.5% vs. 45.0%, P<0.001). Moreover, the high expression of Erbin in ESCC was closely related to poor prognosis (P<0.05). Conclusions: Erbin expression was increased in ESCC and was closely related to poor patient prognosis, which suggested that Erbin may be an important biomarker for the prognosis of cancer patients.

Clinical study of sleep disorders in Morvan syndrome / 中华神经科杂志

Objective To describe the clinical spectrum,especially sleep disorder in three patients diagnosed with Morvan syndrome.Methods Three consecutive patients were identified with Morvan syndrome in the Department of Neurology, Peking Union Medical College Hospital between December 2014 and March 2016.The character in three cases has been studied from several aspects such as clinical presentation, imaging, polysomnography (PSG), cerebrospinal fluid and serum.Results Serum test showed serum contactin-associated protein 2 (CASPR2)antibodies strongly positive (+++) and leucine-rich glioma inactivated protein 1 antibodies positive (+) in three patients.Neuropsychiatric features, neuromyotonia, neuropathic pain, dysautonomia, agrypnia excitata presented in all three patients.The agrypnia excitata was characterized by severe insomnia, excessive motor activity during the night.Agrypnia excitata was diagnosed in three patients according to their history.PSG was finished in case 2 and case 3.PSG in one patient (case 2) documented severe insomnia (sleep efficiency was 59%), lack of cyclic sleep organization with a predominance of stage 1 non-rapid eye movement sleep episodes intermixed with brief rapid eye movement, and a marked reduction of spindles and delta sleep;PSG in another patient (case 3) revealed complete absence of recognizable sleep.Sleep disorders and other symptoms resolved completely or almost completely in two patients (case 1,case 2) who received immunotherapy.Case 3 died from sudden cardiac death before immunotherapy.Conclusions Morvan syndrome usually is associated with high-titer CASPR2 antibodies in serum.Agrypnia excitata is cardinal manifestation of Morvan syndrome in association with a spectrum of neurologic presentations.Early immunotherapy could provide a favorable outcome.

ELK-3 interference inhibits the epithelial-mesenchymal transition of human hepatocellular carcinoma cells / 基础医学与临床

Objective To investigate the relationship of ELK-3 and epithelial-mesenchymal transition ( EMT) for ex-ploring its possible mechanism .Methods The human hepatocellular carcinoma cells ( HCC) were divided into small interference RNA transfection group and Ras-ELK-3 pathway inhibitor group .The protein level of ELK-3 target gene EGR-1 E-cadherin ,vimentin and p38 in HCC were determined by Western blot analysis .Results The protein level of ELK-3 and its target gene EGR-1 in treated human hepatocellular carcinoma cells significantly decreased as compared with the negative control group (P<0.01).The protein level of E-cadherin was significantly increased (P<0.01), while vimentin and p38 were decreased in HCC cells with ELK-3 interference (P<0.01).Conclusions ELK-3 in-terference can inhibit the epithelial-mesenchymal transition of HCC cells by down-regulating p38.

Clinical practice of transnasal endoscopic operation for retrobulbar lesions / 中华耳鼻咽喉头颈外科杂志

Objective@#To summarize the skill and experience of transnasal endoscopic operation for retrobulbar lesions.@*Methods@#Seven patients aged from 25 to 67 years old diagnosed as retrobulbar lesions who underwent transnasal endoscopic operation in Department of Otorhinolaryngology Head and Neck Surgery, Xiangya Hospital between January 2013 and October 2016 were retrospectively analyzed. Two males and five females were included in this study. Five patients underwent transnasal endoscopic operation via media rectus-inferior rectus space, with the other 2 cases via media rectus-superior rectus space.@*Results@#Total lesion removal was achieved in 6 of 7 patients, while 1 patient underwent subtotal removal of the lesion. The visual acuity and visual field improved in 3 cases. The pathological examination showed hemangioma(5 cases), bone cyst(1 case) and fibroma(1 case). All patients were followed up for 9 months to 4 years without complications such as eye movement disorder or blindness, except for 1 case with preoperatively proptosis occurred postoperatively transient diplopia. There was no recurrence in 6 patients with total lesion removal, and the patient underwent subtotal removal of fibroma did not undertake operation again.@*Conclusion@#Transnasal endoscopic operation for retrobulbar lesions is a minimally invasive, safe and effective operatiiv method, which could be taken via different surgical approaches according to the size and location of the lesion.

Treatment for Post-polio Syndrome (review) / 中国康复理论与实践

There is no specific treatment for post-polio syndrome. The common applied therapies include mediciation, exercise, cogni-tive behavioural therapy, physiotherapy, occupational therapy, Traditional Chinese Medicine, assistive technology, psychological and social factors adjustment, interdisciplinary comprehensive rehabilitation, and so on.

Concept and Pathophysiology of Post-polio Syndrome (review) / 中国康复理论与实践

Post-polio syndrome (PPS) is a syndrome after acute infection of poliovirus and sequelae of polio. The incidence of PPS is high, and more in old patients. The pathological features of PPS include chronic nerve damage affected muscles, result in fatigue, pain, breathing and sleep disorders, fall risk, and so on, which impair their health and quality of life. The hypotheses of pathogenesis of PPS in-clude over load of motor neurons, and the continuous existence of the poliovirus, etc. PPS is a stable neuromuscular disease progressing slowly.

Clinical Manifestations and Diagnosis of Post-polio Syndrome (review) / 中国康复理论与实践

Post-polio syndrome (PPS) usually appears decades after acute polio infection, characterized as progressive muscle weak-ness, fatigue, pain, muscle atrophy, poor endurance, intolerance of cold, sleep apnea, water choking cough, and difficulty in swallowing, etc., resulting in a decline in physical function. As an insidious disease, it is very important to identify and diagnose PPS.

Assessment of Patients with Post-polio Syndrome (review) / 中国康复理论与实践

Post-polio syndrome involves a variety of clinical manifestations, which need multi-dimensional evaluation measurement. Multi-dimensional Fatigue Inventory (MFI-20), muscle strength testing, laboratory test, imaging study, the sleep quality assessment, electro-physiological test, pain score, functional independence measure, moving obstacles evaluation, physical activity situation, walking ability as-sessment, the Medical Outcomes Study health survey short form, and evaluation of mental health scale are in common use in the studies.

Value of levator shortening for correction of high supratarsal fold after cosmetic upper blepharoplasty / 中华医学美学美容杂志

Objective To correct the high supratarsal fold after cosmetic upper blepharoplasty is a challenge because of the shortage of both upper eyelid skin and fat.Levator shortening has been a procedure of choice selected by the surgeons to correct this condition.Methods Under local anesthesia, the desired crease was marked according to the characteristics of eyelid anatomy and aesthetic consideration for Asian women.The incision was made through the marked new skin crease and the old incision with surrounding scar tissue was incised.The adhesion between the skin and the levator aponeurosis was completely released.The levator aponeurosis was then divided above the tarsal plate.It could be shortened and then reattached to the tarsal plate depending on the amount of the upper eyelid skin and the degree of the ptosis.The skin incision was then closed to form new but lowered fold.Results Between 2003 to 2015, a total of 34 Chinese women underwent bilateral levator shortening for correction of high supratarsal fold after previous unsatisfactory upper blepharoplasty by other surgeons.There were no surgical complications postoperatively in this series and 32 patients (94.1%) were satisfactory for the outcome of the proper height of the supratarsal fold with at least 1 month follow-up.Only one patient (2.9%) required surgical revision for asymmetry of supratarsal folds and one patient (2.9%) for correction of deepened supratarsal fold.Conclusions The levator shortening can be an effective procedure to correct high supratarsal fold after unsatisfactory upper blepharoplasty in Asian women.It is especially useful to correct such a condition where there is shortage of the eyelid skin combined with the eyelid ptosis.

Delta-catenin protein reduces apoptosis of lung cancer cells via inhibiting the activity of JNK pathway / 中国癌症杂志

Background and purpose:As a member of the catenin family, Delta-catenin protein could promote proliferation and invasion of tumor cells, but the accurate mechanism of Delta-catenin promoting cell proliferation is not clear. In the present study, we illustrated that Delta-catenin’s effect on cell apoptosis and their relationship with mitogen-activated protein kinase (MAPK) signaling pathway, and the possible mechanism was also explored for Delta-catenin promoting invasion and proliferation of tumor cells. Methods:The alterations of p38 and c-jun N-terminal rinasel JNK protein activity were detected in SPC and SK lung cancer cell lines with Delta-catenin overexpression or not, by Western blot method. At the same time, the apoptotic number of tumor cells was also examined by FCM method. Furthermore, the number of invasive tumor cells was examined by Matrigel invasive experiment. Results:Compared with untreated group and empty vector group, the activity of p38 protein was unchanged in lung cancer cell lines with Delta-catenin overexpressed (P>0.05), but the activity of JNK protein was decreased signiifcantly (P<0.05),meanwhile, apoptotic proportion of tumor cells were also reduced (P<0.05), and invasive ability of tumor cells was enhanced signiifcantly (P<0.05). Conclusion:Delta-catenin probably decreases apoptosis number of lung cancer cells via inhibiting the activity of JNK pathway, and then promotes invasive ability of tumor cells.

The Characteristics and Realistic Enlightenment of Doctor-patient Relationship Based on the Treatment Effect in the Ming Dynasty / 中国医学伦理学

At the beginning, this paper introduced the concept of merit in folk medicine simply. Secondly, the situation that although the healer cure but with no contribution is introduced to analyze the reason. Finally, it discussed the characteristics of the doctor-patient relationship based on treatment effect of Ming dynasty and realis-tic enlightenment to current doctor-patient relationship:the industry has threshold, general knowledge should be unbounded;the responsibility has expanded, merit must be clarify;rights are in the ascent, exercising right should be in accordance with the laws;the rules are very important, later supervision is also needed.

Combined middle meatus and expand prelacrimal recess-maxillary ainus approach for orbital fracture treatment / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To study surgical techniques and clinical applications of the intranasal endoscopic combined middle meatus and expand prelacrimal recess-maxillary ainus approach for orbital fracture treatment.@*METHOD@#A retrospective clinical analysis of 3 patients whose admitted for orbital floor fractures or medial wall fractures operated by the intranasal endoscopic middle meatus with expand prelacrimal recess-maxillary ainus approach surgical treatment was studied, and the treatment effects and the postoperative complications were analyzed.@*RESULT@#All patients had been followed up for 6 to 12 months. All cases of diplopia symptom were disappeared, enophthalmos were totally corrected, no cases of complication were found.@*CONCLUSION@#Endonasal endoscopic combined middle meatus and expand prelacrimal recess-maxillary ainus approach for orbital fracture treatment have great and clear view. This approach with less tissue damage and high therapeutic effect makes the cost lower than other methods and complications will be decreased as well, it has a great advantage in the orbital fracture treatment.

Expression of Delta-catenin protein in breast invasive ductal carcinoma and relationship between ;its expression and prognosis of patients / 中国癌症杂志

Background and purpose: As a member of Catenin family, little is known about expressive signiifcance and mechanism of Delta-catenin in numerous tumors. In present study, we investigated the expression of Delta-catenin in breast cancer tissues and its correlation with the prognosis of patients. Methods:We examined the expression of Delta-catenin and its correlation with clinicopathological factors of patients by immunohistochemistry in 92 cases of breast cancer tissues with tissue micro-array. The mRNA and protein expression of Delta-catenin were also detected in another 32 cases of frozen paired breast cancer tissues and normal breast tissues. Results:Compared with normal breast tissues, the mRNA and protein expression of Delta-catenin were increased in breast cancer tissues, and expression of Delta-catenin was closely associated with histological grade and lymph node metastasis (P=0.016 and 0.022, respectively). Moreover, Kaplan-Meier survival analysis revealed that patients with high Delta-catenin expression had shorter survival than patients with low expression (P=0.015), and multivariate Cox analysis revealed that high Delta-catenin expression was also an independent prognostic factor (P=0.017). Conclusion:Our results suggest that Delta-catenin acts as an oncoprotein when overexpressed in breast cancer, and its expression is associated with poor prognosis of patients.

Effect of Different Compatibilities of Shuangxia Soup on Extraction Yield of Trigonelline and Uracil / 世界科学技术-中医药现代化

This article was aimed to study the effect of pinellia combined with prunella vulgarisin of different ratios on the extraction yield of trigonellin and uracil, in order to investigate the changing disciplines and reasonable com-bination of Shuangxia Soup. A Welch Ultimate AQ-C18 column (4.6 mm×250 mm, 5 μm) was used in the study. The mobile phase, consisting of solvent A (water) and solvent B (acetonitrile) was programmed as a linear gradi-ent. The flow rate was 1.0 mL·min-1. And the detection wavelength was 265 nm. The column temperature was 25℃. HPLC was used in the determination of extraction yield of trigonellin and uracil for the comparison among different compatibilities. The results showed that the linearity was achieved in the range of 0.872-4.36 ng for trigonelline, and 10.8-50.4 ng for uracil. The average recoveries were 96.53%-101.48%, with RSD of 0.18%-4.26%. Com-pared with pinellia, the extraction yield of trigonelline was reduced and the extraction yield of uracil was increased after the compatibility. It was concluded that different compatibilities of Shuangxia Soup had effects on the extrac-tion yield of trigonelline and uracil. The best compatibility ratio still requires in-depth study.

The use of the increased IL-27 expression as a diagnostic marker in the serum of hepatocellular carcinoma patients / 中国医师杂志

Objective To investigate the clinical significance of IL-27 in hepatocellular carcinoma ( HCC) in the early stage , and to compare it with alpha-fetoprotein ( AFP) in diagnostic performance .Methods Enzyme-linked immunosorbent assay was used to detect the serum level of IL-27 in the HCC group and control group .Receiver operator characteristic ( ROC) curve was used to ana-lyze two indicators and the logistic regression model predicted value ( PRE) was obtained .Results The study indicated the concentra-tion of IL-27 in HCC group [(364.19 ±177.55)pg/ml] was significantly higher than the control group [(255.49 ±94.33)pg/ml], the area under the curve (AUC) of IL-27 and AFP were (0.804) and (0.818), respectively.Logistic regression obtained the regres-sion model PRE that contains AFP and IL-27, with a predicted area under the ROC curve for HCC (0.901), while the diagnostic sen-sitivity (84.8%) and specificity (96.7%) were significantly higher than the capability of individual diagnosis of each indicator .Con-clusions In this study we obtained the model which can be used for clinical diagnosis of hepatocellular carcinoma in future .

Imaging classification for horizontal segment of uncinate process and its guiding significance in functional endoscopic sinus surgery / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To explore a new method for horizontal segment of uncinate process classification from image of nasal sinus.</p><p><b>METHODS</b>On the level of horizontal segment of uncinate process of nasal sinus high resolution CT (HRCT) coronal scan. A vertical line and a parallel line were drawn started from the fornix top of the inferior meatus and orbital floor. The uncinate process which suited in the 'Cross' regional was divided into four types by these lines. These were: intra-superior, intra-inferior and extra-superior, extra-inferior. According to this method, 119 patients with chronic sinusitis which were divided into these four types by the imaging classification for horizontal segment of uncinate process operated by functional endoscopic sinus surgery, and the treatment effects and the postoperative complications were analyzed.</p><p><b>RESULTS</b>These 119 chronic sinusitis patients (238 sides uncinated process) were divided into four types by the imaging classification for uncinated process. The amount of intra-superior types was 66.0% (157/238), the amount of intra-inferior types was 16.8% (40/238), the amount of extra-superior types was 13.9% (33/238), and the amount of extra-inferior types was 3.4% (8/238). Functional endoscopic sinus surgery was performed according to this classification. All maxillary sinus natural ostium were found. Two cases occured orbital board damage (one was intra-superior, the other was extra-inferior).</p><p><b>CONCLUSION</b>The imaging classification for horizontal segment of uncinate process demonstrates a guiding significance for us to predict the difficulty of the operation and prevent the complications.</p>

Analysis of epidermal growth factor signaling in nasal mucosa epithelial cell proliferation involved in chronic rhinosinusitis / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Aberrant epithelial repair has been observed in chronic rhinosinusitis (CRS) patients; however, the mechanism of epithelial cell repair regulation is unclear. Epidermal growth factor (EGF) plays an important role in regulating epithelial cell repair in lower airway and may be a critical factor in the remodeling processes of CRS. The objective of our research is to evaluate the differences between CRS and normal subjects and between chronic rhinosinusitis without nasal polys (CRSsNP) and chronic rhinosinusitis with nasal polys (CRSwNP) in the regulation of EGF pathways and the regulating proliferative position of classic Ras/Raf/MEK/ERK pathways.</p><p><b>METHODS</b>We evaluated the proliferation rates of ethmoidal mucosal cells before and after stimulation with EGF, epidermal growth factor receptor (EGFR) kinase inhibitor AG1478, and extracellular signal-regulated kinase 1/2 (ERK1/2) inhibitor PD98059 using MTT assays. We also analyzed the sinonasal epithelial cells collected from control subjects and patients with CRS subtypes CRSsNP and CRSwNP for the expression of ERK1/2, phosphorylated ERK1/2, P21, P15, and P27 using western blotting analyses.</p><p><b>RESULTS</b>The proliferation rates of sinonasal epithelial cells before and after EGF stimulation were lower in CRS patients than in the controls. AG1478 or PD98059 inhibitor treatment of control epithelial cells did not result in a significant difference in proliferation. Although, AG1478 and PD98059 inhibited the proliferation of CRS cells, the degree of proliferation inhibition was markedly different in CRSsNP. AG1478 suppressed the proliferation of CRSwNP epithelial cells, whereas PD98059 had no effect. The ratio of ERK1/2 phosphorylation in CRS cells was lower than that of the control cells. Cyclin-dependent kinase inhibitors were highly expressed in CRS cells compared with that of control cells. ERK1/2 and P27 showed differential expression in CRSsNP and CRSwNP.</p><p><b>CONCLUSIONS</b>Differences existed in EGF pathways in CRS patients and normal subjects as well as in CRSsNP and CRSwNP. Classical Ras/Raf/MEK/ERK pathway may assume absolute superiority in control cells. Ras/Raf/MEK/ERK classical pathway and other pathways might be active at the same time to stimulate epithelial cell proliferation in CRSsNP. The function of Ras/Raf/MEK/ERK classical pathway was weaker in CRSwNP than in CRSsNP and when the classical pathway was blocked in CRSwNP, some other pathway could have completely compensated the proliferation induced by the Ras/Raf/MEK/ERK pathway.</p>

Study on Sedative and Hypnotic Effects of Different Eluents of Shuangxiatang / 世界科学技术-中医药现代化

This article was aimed to study the sedative and hypnotic effects of different eluents of Shuangxiatang (SXT). The effects of SXT water decoction, water eluent, 20%, 70% and 95% alcohol eluent on spontaneous ac-tivity and the sleeping induced by subthreshold dose of pentobarbital sodium were measured. The results showed that the SXT decoction, 20% and 95% alcohol eluent can significantly decrease the number of rearing in mice with the percentage of 78.5%, 78.3% and 62.5%, respectively. SXT water eluent and 70% alcohol eluent can significantly decrease the spontaneous activity of mice (P < 0.01), the number of rearing (P < 0.01) and grooming time (P < 0.05). SXT water decoction can significantly shorten sleep latency (P < 0.05), prolong sleep time (P <0.05), and increase rates of sleeping in mice. SXT water eluent can significantly shorten sleep latency in mice (P< 0.05), increase rates of sleeping in mice. SXT water decoction and water eluent have the sedative and hypnotic effects. And the effects are more than alcohol eluents.