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Chronic discoidal lupus erythematosus (CDLE) is an inflammatory skin disease characterized by localized, round, red, patchy skin lesions, which often occur on the head. Inflammatory cells often show an infiltration pattern targeting hair follicles, leading to alopecia. Our study aims to analyze the characteristics of gene expression data from hair follicle samples by bioinformatics methods, and the representative genes will be validated in data from skin samples with the same disease. The gene expression profile GSE119207 was obtained from the Gene Expression Omnibus (GEO) database as an experimental set, including microarray gene expression data of 4 healthy human hair follicles and 7 lesional and non-lesional hair follicles with CDLE. Gene profile GSE81071 included 13 healthy scalp samples and 47 scalp samples from CDLE lesions as the validation set. The experimental set was analyzed by differential gene expression analysis and WGCNA, respectively, and the intersection was taken to screen the key genes. The key genes were analyzed by GO and KEGG analysis to determine the related biological processes and pathways. The protein-protein interaction network of key genes was established by string and visualized by Cytoscape, and hub genes were obtained by cytoHubba. The acquired hub genes were used as ROC curve in the validation set to verify the consistency, and the related mirnas predicted by the hub genes were obtained by miRNet (version 2.0). Finally, cibersort was used to explore the infiltration pattern of immune cells in the hair follicles of CDLE. Through this process, we found that type I interferon response-related genes activated by the RIG-1 and IL-17 signaling pathways were significantly up-regulated, and the involved hub genes were also consistently upregulated in skin tissues. This process may involve the involvement of follicular helper T cells (Tfhs).

Introduction An ankle sprain is a common soccer injury. Functional training is used to rehabilitate muscle strength with undiscovered benefits on soccer players’ recovery. Objective Explore the functional training effects on ankle injury recovery in soccer players. Methods 29 amateur soccer players were randomly assigned to control (n=15) and experimental (n=14) groups with no statistical difference in age or sex (P>0.05). The experimental group used functional rehabilitation training, while the control group was treated with traditional rehabilitation methods. Both groups practiced 30 to 40 minutes of rehabilitation, three times a week, for two months. Mathematical statistics were used to analyze the effects of different injury rehabilitation on the two groups, estimating the ankle joint continuous motion angle by the tibialis anterior muscle electromyogram responses. Results The ankle instability assessment questionnaires were statistically different between the two groups of patients after rehabilitation training (P0,05). O grupo experimental utilizou treinamento de reabilitação funcional enquanto o grupo controle foi tratado com os métodos tradicionais de reabilitação. Ambos os grupos praticaram 30 a 40 minutos de reabilitação, três vezes por semana, durante dois meses. Estatísticas matemáticas foram utilizadas para analisar os efeitos da reabilitação de lesões diferentes nos dois grupos por estimativa do ângulo de movimento contínuo na articulação do tornozelo com as respostas do eletromiograma do músculo tibial anterior. Resultados Os questionários de avaliação da instabilidade do tornozelo entre os dois grupos de pacientes após o treinamento de reabilitação foram estatisticamente diferentes (P0,05). El grupo experimental utilizó un entrenamiento de rehabilitación funcional mientras que el grupo de control fue tratado con métodos de rehabilitación tradicionales. Ambos grupos practicaron entre 30 y 40 minutos de rehabilitación, tres veces por semana, durante dos meses. Se utilizó la estadística matemática para analizar los efectos de las diferentes rehabilitaciones de lesiones en los dos grupos mediante la estimación del ángulo de movimiento continuo en la articulación del tobillo con las respuestas del electromiograma del músculo tibial anterior. Resultados Los cuestionarios de evaluación de la inestabilidad del tobillo entre los dos grupos de pacientes después del entrenamiento de rehabilitación fueron estadísticamente diferentes (P

Chronic discoidal lupus erythematosus (CDLE) is an inflammatory skin disease characterized by localized, round, red, patchy skin lesions, which often occur on the head. Inflammatory cells often show an infiltration pattern targeting hair follicles, leading to alopecia. Our study aims to analyze the characteristics of gene expression data from hair follicle samples by bioinformatics methods, and the representative genes will be validated in data from skin samples with the same disease. The gene expression profile GSE119207 was obtained from the Gene Expression Omnibus (GEO) database as an experimental set, including microarray gene expression data of 4 healthy human hair follicles and 7 lesional and non-lesional hair follicles with CDLE. Gene profile GSE81071 included 13 healthy scalp samples and 47 scalp samples from CDLE lesions as the validation set. The experimental set was analyzed by differential gene expression analysis and WGCNA, respectively, and the intersection was taken to screen the key genes. The key genes were analyzed by GO and KEGG analysis to determine the related biological processes and pathways. The protein-protein interaction network of key genes was established by string and visualized by Cytoscape, and hub genes were obtained by cytoHubba. The acquired hub genes were used as ROC curve in the validation set to verify the consistency, and the related mirnas predicted by the hub genes were obtained by miRNet (version 2.0). Finally, cibersort was used to explore the infiltration pattern of immune cells in the hair follicles of CDLE. Through this process, we found that type I interferon response-related genes activated by the RIG-1 and IL-17 signaling pathways were significantly up-regulated, and the involved hub genes were also consistently upregulated in skin tissues. This process may involve the involvement of follicular helper T cells (Tfhs).

In order to monitor the rehabilitation of athletes injured in long-distance running, the author proposes a method for rehabilitation monitoring of long-distance running based on CT multimodal images. This method combines the latest multimodal image technology, integrates multimodal technology into CT images to improve the accuracy, performs image segmentation on CT multimodal images through medical segmentation methods, and analyzes the segmented images; finally, it can achieve the effect of rehabilitation treatment for athletes in long-distance running. Experimental results show that the total time taken by the authors’ method is 10.9 hours, with an average time of 8 seconds, which is much shorter than the other two control methods. In conclusion, the authors’ method allows for better rehabilitation monitoring of long-distance running sports injuries.

In this letter, we propose fundamental path loss (PL) models which play vital roles in promoting the intraheart communication system design of future deeply implanted leadless pacemakers inside the cardiac chambers. Initially, employing a plane wave approach yields the attenuation of the electric field in homogeneous heart tissue, while a modified Friis equation in the lossy medium is utilized to evaluate the power transmission between transmitting and receiving antennas in homogeneous heart tissue in the far-field zone. An Hertzian dipole excitation is used to separate the mismatch and ohmic losses of the antenna from the path loss in an anatomical human body simulation environment. Based on this theoretical and full-wave simulation setup, PL models are derived and comprehensively compared at different potential frequency bands [Medical Implant Communication Service (MICS) 402—405 MHz, Wireless Medical Telemetry Service (WMTS) 608–614 MHz, Industrial, Scientific, and Medical (ISM) 867–869 MHz, and 2400–2500 MHz], and the validity of applying the Friis equation in this scenario is verified.

The movement of the overlying strata in steeply dipping coal seams is complex, and the deformation of roof rock beam is obvious. In general, the backfill mining method can improve the stability of the surrounding rock effectively. In this study, the 645 working face of the tested mine is used as a prototype to establish the mechanical model of the inclined roof beam using the sloping flexible shield support backfilling method in a steeply dipping coal seam, and the deflection equation is derived to obtain the roof damage structure and the maximum deflection position of the roof beam. Finally, numerical simulation and physical similarity simulation experiments are carried out to study the stability of the surrounding rock structure under backfilling mining in steeply dipping coal seams. The results show the following: (1) With the support of the gangue filling body, the inclined roof beam has smaller roof subsidence, and the maximum deflection position moves to the upper part of working face. (2) With the increase of the stope height, the stress and displacement field of the surrounding rock using the backfilling method show an asymmetrical distribution, the movement, deformation, and failure increase slowly, and the increase of the strain is relatively stable. Compared with the caving method, the range and degree of the surrounding rock disturbed by the mining stress are lower. The results of numerical simulation and physical similarity simulation experiment are generally consistent with the theoretically derived results. Overall, this study can provide theoretical basis for the safe and efficient production of steeply dipping coal seams.

In this paper, we investigate the intra-cardiac to subcutaneous and intra-cardiac to off-body path loss models in three potential sub-GHz narrow bands, i.e., MICS Band (402 – 405 MHz), WMTS Band (608 – 614 MHz) and ISM Band (867 – 869 MHz), for the wireless leadless cardiac pacemaker (LCP) applications. In view of computational efficiency and accuracy, a simplified 4-Cole-Cole model is studied and utilized for the tissues in and surrounding the cardiac region. Then, based on the anatomical human numerical model, the path loss values of intra-cardiac to subcutaneous and intra-cardiac to off-body are calculated, and the corresponding path loss models are fitted with log-distance model. The derived path loss models are useful factors in the analysis and design of the wireless LCP communication system and medical Internet of Thing networking.

Generally, cicatricial alopecias are relentlessly and slowly progressive. We describe clinical and histologic features of rapidly progressive cicatricial alopecia in a young man, with overlapping features of frontal fibrosing alopecia (FFA), lichen planopilaris (LPP), fibrosing alopecia with a pattern distribution (FAPD), and cicatricial pattern hair loss (CPHL), suggesting that these conditions may exist along a spectrum.

This summary paper investigates the transmission channel gain and the specific absorption rate (SAR) for implanted HBC based on the galvanic-coupled implantable electrodes, to explore the suitability of human body tissue for a galvanic implanted HBC wireless communication. Based on numerical simulation and phantom measurement, the influence of the electrode length and inter-electrode distance on the channel gain and SAR has been studied. In the HBC frequency range of interest of 5MHz-50MHz, the frequency doesn’t have a noticeable effect on the channel gain. Channel transmission characteristics for different distance have been shown to be similar for different electrode dimensions. With larger transmission distance, the channel gain is decreasing. Larger implanted electrode demonstrates the relative better channel gain as well as lower localized SAR peak.

With the increasing importance of environmental protection, more and more attention has been paid to backfilling coal mining. The prediction and design of the proportioning of backfill materials are significantly important for paste backfilling coal mining. In this study, the key factors affecting paste slurry mass optimization are identified, including mass concentration, solid-cement ratio, and fly ash-cement ratio. According to the identified factors, a paste slurry mass prediction numerical model is established to effectively predict the paste slurry mass of backfilling mining, based on a hybrid algorithm of the back propagation neural network (BPNN) with chaos optimization (CO). With the adopted model indicators, the orthogonal test data of backfill materials are used as samples for learning, training and testing. The performance of the COBPNN and traditional BPNN models are assessed using experimental results. Finally, a mechanical model of gob-side entry retaining is development, and the surface convergence of surrounding rock of roadway and the internal load of filling body are detected in the tested working face. The results indicate that the proposed model has improved the performance of the traditional BPNN model, in terms of tardy convergence, low convergence precision, proneness to local minimum, enables high fitting accuracy and strong generalization, and more accurate and reliable prediction for the paste slurry mass, thus providing a more effective approach for optimizing the proportioning of paste slurry for backfilling coal mining.

Objective To compare diagnostic performance of traditional vertical section technique, horizontal section technique and modified Ho-Vert technique for classical lichen planopilaris. Methods Clinical data were collected from patients with classical lichen planopilaris in Department of Dermatology, The Affiliated Wuxi People′s Hospital of Nanjing Medical University from January 1st 2015 to January 1st 2019. With the help of dermoscopy, 2 scalp specimens were obtained from each patient and sliced horizontally and vertically respectively by using modified Ho-Vert technique. The horizontal and vertical sections were read separately or simultaneously, and histopathological changes were observed. Results Totally, 21 patients with classical lichen planopilaris were enrolled into this study, including 15 males and 6 females. Their age was 50.0 ± 13.6 years, and the average course of disease was 18 months. The patients mainly presented with multifocal or confluent patchy hair loss, and scalp atrophy, perifollicular hyperkeratosis, loss of follicular ostia, fibrous white dots and orbit sign were observed. On the horizontal sections, lichenoid lymphocytic infiltration around the infundibulum and isthmus of hair follicles and follicular micro-scars could be observed in all patients, and the dermo-epidermal interface could be seen in 7 patients. On the vertical sections, lichenoid lymphocytic infiltration around the infundibulum and isthmus of hair follicles only could be observed in 9 patients, follicular micro-scars could be seen in 4, and the dermo-epidermal interface could be observed in all patients. Moreover, the detection rates of interfollicular interface dermatitis, follicular keratotic plugs, lymphocytic infiltration around sebaceous glands, atrophy or disappearance of sebaceous glands and inflammatory infiltration around hair follicle bulbs were significantly different between the horizontal and vertical sections. In combination with clinical manifestations, 7 patients could be exactly diagnosed with lichen planopilaris according to findings from horizontal sections, and 9 could be diagnosed exactly according to findings from vertical sections, while 21 could be diagnosed exactly according to histopathological findings from both horizontal and vertical sections. Conclusion With the help of dermoscopy, modified Ho-Vert technique can improve the efficacy of pathological diagnosis of classical lichen planopilaris, by multidimensionally showing histopathological changes. Key words: Lichen planus; Alopecia; Hair follicle; Dermoscopy; Modified Ho-Vert technique; Hair pathology

Hailey-Hailey disease (HHD) is an autosomal dominant disorder in which the ATP2C1 gene has been implicated. Many mutations of this gene have been detected in HHD patients. To analyze such mutations in HHD and summarize all those identified in Chinese patients with this disease, we examined four familial and two sporadic cases and searched for case reports and papers by using the Chinese Biological Medicine Database and PubMed. HHD diagnoses were made based on clinical features and histopathological findings. Polymerase chain reaction and direct sequencing of the ATP2C1 gene were performed using blood samples from HHD patients, unaffected family members, and 120 healthy individuals. Three mutations were identified, including the recurrent mutation c.2126C>T (p.Thr709Met), and two novel missense mutations, c.2235_2236insC (p.Pro745fs*756) and c.689G>A (p.Gly230Asp). Considering our data, 81 different mutations have now been reported in Chinese patients with HHD. In cases of misannotation or duplication, previously published mutations were renamed according to a complementary DNA reference sequence. These mutations are scattered throughout the ATP2C1 gene, with no evident hotspots or clustering. It is of note that some reported "novel" mutations were in fact found to be recurrent. Our findings expand the range of known ATP2C1 sequence variants in this disease.

Some views about macro logistics cost of China related literature and business recent years were re-analyzed. There are still some questionable points about the total cost of social logistics nowadays. It is pointed out that we should re-examine and research the way of view of macro logistics cost on the basis of the actual data and stimulated data.

To detect mutations of ATP2A2 gene in a pedigree and a sporadic case with Darier disease (DD) and explore the underlying molecular mechanism.Clinical data of the pedigree and the sporadic case were collected. Genomic DNA was extracted from blood samples of four members from the pedigree (including three patients and one healthy member), the sporadic case and 100 healthy controls. PCR was performed to amplify all coding exons of the ATP2A2 gene. And the products were directly sequenced to detect mutations.A missense mutation c.1484CT (p.S495L) in exon 12 was detected in all patients of the pedigree. For the sporadic case, a novel splicing mutation c.325-2AG was detected at the junction between intron 4 and exon 5. The same mutations were not found in the 100 healthy controls.Mutations of the ATP2A2 gene may lead to the occurrence of DD in both familial and sporadic cases with DD.

Histopathological diagnosis of scalp biopsies remains a challenging area in dermatopathology. Published studies have described the benefits of different sectioning techniques although the application of these techniques is still under clinical investigation. To review published literature and evaluate the value of horizontal sections compared to vertical sections in the diagnosis of alopecia. Databases, such as PubMed and EMBASE, among others, were searched for published articles; to identify additional relevant studies, the literature search was performed manually. The total number of cases and diagnosed cases, and diagnostic rates, were extracted from each included study. Pooled diagnostic rates with 95% confidence intervals (CI) were used to evaluate the value of different sectioning techniques, and we tested for publication bias and heterogeneity. Most studies had a suboptimal design. With regards to non-scarring alopecia, there were eight horizontal and eight vertical section studies. The pooled diagnostic rates were 0.81 (95% CI: 0.70-0.92) and 0.76 (95% CI: 0.60-0.93), respectively, and extensive heterogeneity existed among these studies. For the diagnosis of scarring alopecia, there were three horizontal and five vertical sectioning studies. The pooled diagnostic rates were 0.86 (95% CI: 0.66-1) and 0.90 (95% CI: 0.82-0.98), respectively, and heterogeneity was also observed. Based on published studies, no significant difference exists between horizontal and vertical sectioning techniques in the diagnosis of alopecia. Whereas most studies had a suboptimal design, future studies in this area would benefit from a scientific approach and standardised measurements to explore the value of horizontal and vertical sectioning.

Neurofibromatosis type 1 (NF1) is a hereditary disorder caused by mutations in the NF1 gene. Detecting mutation in NF1 is hindered by the gene's large size, the lack of mutation hotspots, and the presence of pseudogenes. Our goal was to establish a sensitive, feasible, and comparatively economical protocol to detect NF1 mutations using blood samples. We developed a method to screen patients for mutations. Thirty-two NF1 patients from 32 unrelated families and 120 unrelated population-match controls were investigated in this study. Specific primers were designed for NF1 to avoid pseudogenes. NF1 mutations were detected by sequencing at the deoxyribonucleic acid (DNA) and complementary DNA (cDNA) levels, and multiplex ligation-dependent probe amplification (MLPA) and familial segregation analyses were used. Forty-four specific primers designed according to the NF1 structure were successfully used for polymerase chain reaction (PCR) and DNA sequencing, which was more feasible and useful than cDNA sequencing. Thirty distinct NF1 mutations were identified in 32 patients. Thirteen mutations were novel and most were frameshift mutations (33.3%). Mutations were detected at a rate of 93.8%. Our study suggests that this sensitive, feasible, and comparatively economical protocol is effective for the detection of NF1 mutations.

Background Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder caused by the mutations of adenosine deaminase acting on RNA1 (ADAR1) gene. We present a clinical and genetic study of seven unrelated families and two sporadic cases with DSH for mutations in the full coding sequence of ADAR1 gene. Methods ADAR1 gene was sequenced in seven unrelated families and two sporadic cases with DSH and 120 controls. Functional significance of the observed ADAR1 mutations was analyzed using PolyPhen 2, SIFT and DDIG-in. Results We describe six novel mutations of the ADAR1 gene in Chinese patients with DSH including a nonstop mutation p.Stop1227R, which was firstly reported in ADAR1 gene. In silico analysis proves that all the mutations reported here are pathogenic. Conclusion This study is useful for functional studies of the protein and to define a diagnostic strategy for mutation screening of the ADAR1 gene. A three-generation family exhibiting phenotypic variability with a single germline ADAR1 mutation suggests that chilblain might aggravate the clinical phenotypes of DSH.

Background: Extramammary Paget's disease (EMPD) is an uncommon skin neoplasm characterized by Paget's cells with pale-staining cytoplasm in the epidermis, and cases with distinguished acantholysis but lacking characteristic Paget's cells were rarely reported in the literature. Methods: An 80-year-old male with lesion on scrotum was screened histologically and immunohistologically for the diagnosis of his tumor. Results: Histological examination showed acanthosis with cellular atypia and focal acantholysis, consistent with acantholytic squamous cell carcinoma in situ (SCCIS). No characteristic Paget's cells were observed in low magnification. Immunohistochemical staining showed carcinoembryonic antigen (CEA), cytokeratin 7 (CK7) and cytokeratin 8 (CK8) to be strongly expressed in the nests and singly arranged large tumor cells, and the surrounding epidermis was positive for CK5/6 and negative for CEA. Sporadic periodic acid-schiff (PAS)-positive cells could be seen in some areas. Conclusions: These findings strongly indicated the diagnosis of EMPD mimicking acantholytic SCCIS. Du X, Yin X, Zhou N, Zhang G, Shi H, Cao S. Extramammary Paget's disease mimicking acantholytic squamous cell carcinoma in situ: a case report.

To quantitatively summarize the association of NFKBIA gene polymorphisms with autoimmune and inflammatory diseases. We surveyed studies on the association of NFKBIA gene polymorphisms with autoimmune and inflammatory diseases in PubMed. Meta-analysis was performed in a fixed/random effect model. We identified 14 studies using a PubMed search. Meta-analysis was performed for NFKBIA gene polymorphisms at positions 2758 (A/G, 5 studies), −881 (A/G, 3 studies), −826 (C/T, 3 studies), and −297 (C/T, 3 studies). We did not detect associations of NFKBIA gene polymorphisms at positions 2758, −881, −297 with autoimmune and inflammatory diseases. An association of NFKBIA gene −826C/T polymorphism with autoimmune and inflammatory diseases was found (C vs. T: OR = 1.81, 95% CI = 0.97–3.36, P = 0.06; CT + TT vs. CC: OR = 2.11, 95% CI = 1.07–4.19, P = 0.03; TT vs. CC + CT: OR = 2.20, 95% CI = 0.78–6.21, P = 0.06; TT vs. CC: OR = 2.87, 95% CI = 0.78–10.62, P = 0.11; CT vs. CC: OR = 2.02, 95% CI = 1.22–3.36, P = 0.006). This meta-analysis demonstrates that autoimmune and inflammatory diseases are associated with NFKBIA gene −826C/T polymorphism, but not with 2758A/G, −881A/G, and −279C/T.

To detect FLG gene mutations in 10 families affected with ichthyosis vulgaris and to explore mutational hot spot of the FLG gene in Chinese Han population.PCR and direct sequencing were carried out to identify potential mutations of the FLG gene in above families. One hundred healthy individuals were analyzed as normal controls.Three mutations (3321delA, 5757delCCAG and S2706X) were identified in 7 families. A homozygous mutation 3321delA was also detected in two unrelated patients. No mutations were found in the remaining three families. Neither of the null mutations (5757delCCAG and S2706X) was found in the 100 controls. However, for 3321delA, a heterozygous mutation was also found in two of the controls.Three FLG mutations have been identified in the selected families with ichthyosis vulgaris, and the 3321delA mutation was most prevalent (46.9%). Mutations 5757delCCAG and S2706X were first found in patients with ichthyosis vulgaris. Other candidate genes may underlie the disease in those without a FLG mutation.

We investigated 2 Chinese families with dyschromatosis symmetrica hereditaria (DSH) and search for mutations in the adenosine deaminase acting on RNA1 (ADAR1) gene in these 2 pedigrees. We performed a mutation analysis of the ADAR1 gene in 2 Chinese families with DSH and reviewed all articles published regarding ADAR1 mutations reported since 2003 by using PubMed. By direct sequencing, a 2-nucleotide AG deletion, 2099-2100delAG, was found in family 1, and a C→T mutation was identified at nucleotide 1420 that changed codon 474 from arginine to a translational termination codon in family 2. Two different pathogenic mutations were identified, c.2099-2100delAG and c.1420C>T, the former being a novel mutation, and the latter previously reported in 3 other families with DSH. To date, a total of 110 mutations in the ADAR1 gene have been reported, and 10 of them were recurrent; the mutations R474X, R1083C, R1096X, and R1155W might be the DSH-related hotspots.

To detect the genomic deletion mutation in the NEMO gene of a family with incontinentia pigmenti (IP; MIM 308310).A pedigree of IP was investigated. By using long PCR, the Delta4-10 deletion in NEMO gene was tested with specific primers In2/JF3R, and Delta4-10 deletion in pseudogene DeltaNEMO was investigated with primers Rev-2/JF3R. NEMO gene of 80 normal controls was also tested.The deletion of exons 4-10 in both NEMO gene and the pseudogene DeltaNEMO was detected in all the patients in the family, but was not found in the normal individuals in this IP family and 80 unrelated controls.The study showed that the family with IP, which showed anticipation, was caused by NEMODelta4-10 deletion in the NEMO gene. Long PCR analysis is proven to be an efficient tool for identification of NEMO rearrangements. It could provide useful information for the genetic counseling of the family involved.

ejd.2012.1700 Auteur(s) : Xu-Feng Du1 docdxf@126.com, Xing-Ping Yin2, Guo-Long Zhang1, He-Jian Shi1, Min-Hua Shao1 1 Department of Dermatology, Wuxi People's Hospital, 299 Qingyang Road, 214023Wuxi, China 2 Department of Dermatology, Wuxi No.2 People's Hospital, Wuxi, China Interstitial granulomatous drug reaction (IGDR) is a recently proposed drug-associated entity [1]. Many cases of IGDR have been reported in the literature, mostly induced by Western medicines, such as diuretics, antihistamines, [...]