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Enhanced recovery after surgery (ERAS) has been successfully integrated into a diverse array of surgical fields to improve the quality and efficacy of treatment intervention. Nonetheless, the application of the ERAS protocol for patients with diabetic foot ulcer (DFU) subsequent to undergoing surgical procedures has not been previously explored. Therefore, this study aimed to investigate the effect of an enhanced recovery protocol on perioperative outcomes in patients with DFU following surgical procedures. A retrospective analysis was conducted on 112 patients with DFU who underwent surgery between January 2020 and December 2021 at a tertiary referral care center. In total, 57 patients received standard perioperative care (the non-ERAS group), and 55 patients received ERAS care (the ERAS group). The primary outcomes included the length of stay (LOS), wound healing time, patient satisfaction, and costs, serving as the basis for assessing the effectiveness of the two approaches. Secondary outcomes included preoperative anxiety (APAIS score), nutritional status (PG-SGA), pain (NRS score), the incidence of lower-extremity deep vein thrombosis (DVT), the reduction in lower-limb circumference, and the activity of daily living scale (Barthel Index). The ERAS group exhibited significantly shorter LOS (11.36 vs. 26.74 days; P < 0.001) and lower hospital costs (CNY 62,165.27 vs. CNY 118,326.84; P < 0.001), as well as a higher patient satisfaction score and Barthel Index score (P < 0.05). Additionally, we found a lower APAIS score, incidence of DVT, and circumference reduction in lower limbs in the ERAS group compared to the non-ERAS group (P < 0.05). In comparison, the wound healing time, nutritional status, and pain levels of participants in both groups showed no significant difference (P > 0.05). By reducing the LOS and hospital costs, and by minimizing perioperative complications, the ERAS protocol improves the quality and efficacy of treatment intervention in patients with DFU who underwent surgical procedures.Trial registration number: ChiCTR 2200064223 (Registration Date: 30/09/2022).
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Pie Diabético , Recuperación Mejorada Después de la Cirugía , Tiempo de Internación , Humanos , Masculino , Femenino , Estudios Retrospectivos , Pie Diabético/cirugía , Persona de Mediana Edad , Anciano , Cicatrización de Heridas , Satisfacción del Paciente , Atención Perioperativa/métodos , Resultado del TratamientoRESUMEN
OBJECTIVE: This study aims to use the texture analysis of ultrasound images to distinguish the features of microchambers (a superficial thinner layer) and macrochambers (a deep thicker layer) in heel pads between the elderly with and without diabetes, so as to preliminarily explore whether texture analysis can identify the potential injury characteristics of deep tissue under the influence of diabetes before the obvious injury signs can be detected in clinical management. METHODS: Ultrasound images were obtained from the right heel (dominant leg) of eleven elderly people with diabetes (DM group) and eleven elderly people without diabetes (Non-DM group). The TekScan system was used to measure the peak plantar pressure (PPP) of each participant. Six gray-level co-occurrence matrix (GLCM) features including contrast, correlation, dissimilarity, energy, entropy, homogeneity were used to quantify texture changes in microchambers and macrochambers of heel pads. RESULTS: Significant differences in GLCM features (correlation, energy and entropy) of macrochambers were found between the two groups, while no significant differences in all GLCM features of microchambers were found between the two groups. No significant differences in PPP and tissue thickness in the heel region were observed between the two groups. CONCLUSIONS: In the elderly with diabetes who showed no significant differences in PPP and plantar tissue thickness compared to those without diabetes, several texture features of ultrasound images were found to be significantly different. Our finding indicates that texture features (correlation, energy and entropy) of macrochambers could be used for early detection of soft tissue damage associated with diabetes.
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Insulin, as the only hypoglycemic hormone in the body, plays a key role in blood sugar control. However, excessive insulin intake can lead to insulin poisoning and even death, which often occurs in clinical and forensic work. At present, some researches on insulin poisoning have been carried out at home and abroad, however, it seems that the mechanism and forensic characteristics of insulin poisoning are not clear and complete. Therefore, in this paper, we reviewed the potential mechanism of insulin poisoning, the methods of insulin detection and the forensic identification of poisoning cases, aiming at providing services for the forensic identification of insulin poisoning.
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Insulina , Humanos , Insulina/envenenamiento , Toxicología Forense/métodos , Medicina Legal/métodos , Hipoglucemiantes/envenenamientoRESUMEN
Brodifacoum exerts its antagonistic effect against the metabolism of vitamin K, an essential component in the synthesis of blood coagulation factors. This effect ultimately hinders the blood's capacity to clot effectively, rendering it a commonly employed rodenticide. Instances of lethal poisonings are exceedingly rare owing to expeditious medical intervention and treatment. Within this report, we present a case of brodifacoum-induced homicide, wherein the patient exhibited distinct clinical examinations and symptoms. Moreover, the patient's blood sample exhibited a noteworthy brodifacoum concentration of 0.681 µg/mL even after a period of 43 days following the incident of poisoning. Although an autopsy was not conducted due to religious restrictions, we endeavor to reasonably deduce the cause of death and furnish corroborative evidence for clinical diagnosis, treatment, and forensic examination in instances involving brodifacoum poisoning.
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Homicidio , Rodenticidas , Humanos , Rodenticidas/envenenamiento , Masculino , Cromatografía Liquida , Espectrometría de Masas en Tándem , Toxicología Forense , 4-Hidroxicumarinas/envenenamiento , Adulto , Cromatografía Líquida con Espectrometría de MasasRESUMEN
For comprehensive studies of the brain structure and function, fluorescence imaging of the whole brain is essential. It requires large-scale volumetric imaging in cellular or molecular resolution, which could be quite challenging. Recent advances in tissue clearing technology (e.g. CLARITY, PACT) provide new solutions by homogenizing the refractive index of the samples to create transparency. However, it has been difficult to acquire high quality results through immunofluorescence (IF) staining on the cleared samples. To address this issue, we developed TSA-PACT, a method combining tyramide signal amplification (TSA) and PACT, to transform samples into hydrogel polymerization frameworks with covalent fluorescent biomarkers assembled. We show that TSA-PACT is able to reduce the opacity of the zebrafish brain by more than 90% with well-preserved structure. Compared to traditional method, TSA-PACT achieves approximately tenfold signal amplification and twofold improvement in signal-to-noise ratio (SNR). Moreover, both the structure and the fluorescent signal persist for at least 16 months with excellent signal retention ratio. Overall, this method improves immunofluorescence signal sensitivity, specificity and stability in the whole brain of juvenile and adult zebrafish, which is applicable for fine structural analysis, neural circuit mapping and three-dimensional cell counting.
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Fatal pulmonary thromboembolism (PTE) following percutaneous vertebroplasty is rare in medical practice. Here, we report the case of a 70-year-old woman who suffered from lumbago with lower extremity pain and lameness and for whom lumbar osteoporotic vertebral compression fractures (L4, L5) were seen on MRI examination. Percutaneous vertebroplasty and posterior vertebral lamina fenestration discectomy were performed. One day later, her condition deteriorated after defecation, and she died suddenly. Pulmonary thromboembolus and deep venous thrombosis in the inferior vena cava were the major findings at forensic autopsy. Due to the rather uncommon components of the thromboembolus (chondrocytes, calcium deposits, and collagen fibers), the pulmonary thromboembolism was attributed to deep venous thrombosis in the inferior vena cava, which was injured during percutaneous vertebroplasty. The present study highlights the conclusion that pulmonary thromboembolism is a rare complication of percutaneous vertebroplasty that should attract the attention of clinical physicians and forensic pathologists.
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Background: The relationship between hamstring flexibility and the risk of OSD continues to be a debate, and whether hamstring stretching exercises should be considered as one of the conservative treatments of OSD is still unclear. Objectives: To investigate the relationship between hamstring flexibility and the risk of OSD by assessing the changes of loading on the tibial tuberosity caused by the changes of hamstring optimal lengths. Methods: Experimental data of a young adult running at 4 m/s were used, which were collected by an eight-camera motion capture system together with an instrumented treadmill. Muscle forces were estimated in OpenSim when hamstring optimal lengths changed in the range of 70-130% of the control case in 5% increments. The force and accumulated force of quadriceps muscle were calculated to evaluate the impact of hamstring optimal lengths on the loading on tibial tuberosity. The changes in muscle forces throughout the gait cycle were compared by using statistical parametric mapping (SPM). The average peak force and accumulated force of five gait cycles were compared. Results: Although the maximum force of the quadriceps muscle was slightly affected by changes in hamstring optimal lengths, the accumulated force of quadriceps muscle increased by 21.97% with hamstring optimal lengths decreased by 30% of the control case. The increase of the muscle force mainly occurred in the early stance phase and terminal swing phase (P < 0.05). However, when hamstring optimal lengths were longer than the control, it had a little effect on accumulated force of quadriceps muscle. Conclusions: The results of this study indicate that a shorter hamstring optimal length, which means lack of flexibility, can cause a high accumulated force on tibial tuberosity, thus increasing the risk of OSD. Hamstring stretching exercise is only effective for people with lack of hamstring flexibility.
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Osteocondrosis , Carrera , Fenómenos Biomecánicos , Marcha/fisiología , Humanos , Músculo Esquelético/fisiología , Tibia , Adulto JovenRESUMEN
Objective: People with diabetic peripheral neuropathy (DPN) are usually accompanied with increased plantar pressure. Such high plantar loading during daily activities may cause changes in the biomechanical properties of plantar soft tissue, whose viability is critical to the development of foot ulcers. This study aimed to investigate the relationship between plantar tissue hardness and plantar pressure in people with and without DPN, and preliminarily explore the influence of plantar loading patterns on the plantar pressure and tissue hardness. Methods: The study was conducted on 14 people with DPN and 14 diabetic people without DPN. The Shore durometer and MatScan System were used to measure the plantar tissue hardness and plantar pressure, respectively. The plantar loading level was evaluated by the duration of daily weight-bearing activity and was used to group diabetic participants with and without DPN into two subgroups (lower loading group and higher loading group). Results: The plantar tissue hardness was significantly correlated with static peak plantar pressure (PPP, p < 0.05) and dynamic pressure-time integral (PTI, p < 0.05) in the forefoot region in people with DPN. Results of variance analysis showed a significant interaction effect between peripheral neuropathy and plantar loading on tissue hardness (p < 0.05), but not plantar pressure. For people with DPN, significant differences in tissue hardness between the higher loading group and lower loading group were observed in the forefoot, midfoot and hindfoot regions. In the higher loading group, people with DPN had significantly greater tissue hardness than that in people without DPN in the toes, forefoot, midfoot and hindfoot regions (p < 0.05). Conclusions: There is a significant correlation between tissue hardness and PPP, and between tissue hardness and PTI in people with DPN. Plantar loading associated with daily activities plays a significant role on the plantar tissue hardness in people with DPN. The findings of this study contribute to further understand the relationship between increased plantar tissue hardness and high plantar pressure in people with diabetic peripheral neuropathy.
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Intermittent pneumatic compression (IPC) is commonly used to improve peripheral circulation of the lower extremity. However, its therapeutic dosage for people with type 2 diabetes mellitus (DM) at risk for ulcers is not well established. This study explored the effect of IPC with different inflation pressures on the distal microvascular responses of the foot in people with type 2 DM. Twenty-four subjects with and without DM were recruited. Three IPC protocols with inflation pressures of 60, 90, and 120 mmHg were applied to the foot. The foot skin blood flow (SBF) responses were measured by laser Doppler flowmetry during and after IPC interventions. Results show that all three IPC interventions significantly increased foot SBF of IPC stage in healthy subjects, but only 90 and 120 mmHg IPC significantly improved SBF in diabetic subjects. IPC with 90 and 120 mmHg showed a greater effect than 60 mmHg in both groups, but 120 mmHg IPC was more effective for diabetic subjects. This study demonstrates that 90 and 120 mmHg are effective dosages of IPC for improving blood flow in healthy people, and 120 mmHg IPC may be more suitable for people with type 2 DM.
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Diabetes Mellitus Tipo 2 , Pierna , Velocidad del Flujo Sanguíneo/fisiología , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/terapia , Humanos , Claudicación Intermitente/terapia , Aparatos de Compresión Neumática Intermitente , Pierna/irrigación sanguíneaRESUMEN
Objective: Exercise has been reported to be beneficial for people with type 2 diabetes (T2DM), but exercise, especially weight-bearing exercise, may increase the risk of diabetic foot ulcers (DFUs). This study aimed to explore the associations between different volumes of weight-bearing physical activities and plantar microcirculation and tissue hardness in people with T2DM. Methods: 130 elderly people with T2DM were enrolled for this cross-sectional study. They were classified into the high exercise volume group and the low exercise volume group based on their weekly energy expenditure (metabolic equivalents per week) in the past year. Weekly energy expenditure was calculated using the International Physical Activity Questionnaire and the Compendium of Physical Activities. The plantar oxygen saturation (SO2) and soft tissue hardness of each participant's right foot were measured. Results: A total of 80 participants completed the trial. The average exercise energy expenditure of the high exercise volume group and the low exercise volume group were significantly different (p < 0.05). The results showed that the SO2 of the high exercise volume group (67.25 ± 6.12%) was significantly higher than the low exercise volume group (63.75 ± 8.02%, p < 0.05). The plantar tissue hardness of the high exercise volume group was lower than the low exercise volume group in the big toe, midfoot and hindfoot regions (p < 0.05). Conclusion: This study demonstrates that higher volumes of exercise are associated with better plantar microcirculation and lower plantar tissue hardness in people with T2DM. The findings of this study indicate that weight-bearing exercise may not increase risk of developing diabetic foot ulcers.
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BACKGROUND: Marfan syndrome is a hereditary connective tissue disease accompanied by autosomal dominant inheritance; that mainly arises from a mutation in the fibrillin-1 gene (FBN1). Aortic dissection and rupture are the common and lethal complications of MFS and may cause sudden unexpected death. METHOD: A man aged 34 was admitted to the hospital due to persistent pain in his abdomen 12 h post-drinking and suddenly died 10 h later. A forensic autopsy was performed to identify the underlying mechanism of death. Due to the high suspected of MFS, Sanger sequencing was performed, and a novel mutation was detected in the deceased. To clarify the underlying mechanism of this mutation, real-time quantitative polymerase chain reaction was conducted and Western blot analysis was performed in vitro. RESULTS: A novel PTC mutation c.933C > A in FBN1 was found. Through family history inspection and Sanger sequencing, other MFS patients in the present family were confirmed. The pathologic changes in the aorta in the present case showed media cystic degeneration, disordered arrangement of elastic fibers and a significant reduction in fibrillin 1 compared with the control. The mutation led to significant reduction inFBN1 mRNA and fibrillin-1 in cells in vitro, and overexpression of phospho-Smad2 was observed. CONCLUSION: We confirmed a novel pathogenic PTC mutation in the FBN1gene through Sanger sequencing, and the pathological changes and underlying mechanisms were also identified. The present work not only extends the pathogenic mutation spectrum of MFS, but also stresses the role of forensic autopsy, genetic analysis and functional validation of novel mutations in cases of sudden death associated with congenital diseases.
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Codón sin Sentido , Síndrome de Marfan , Muerte Súbita/etiología , Fibrilina-1/genética , Humanos , Masculino , Síndrome de Marfan/genética , MutaciónRESUMEN
Substance-related disorders are a group of medical conditions that affect a person's brain and behavior and lead to an inability to control the use of legal or illegal drug(s) or medication. Substance-related disorder is a serious public health and society problem worldwide. Genetic factors have been proven to have an important role. Researchers have carried out a lot of work in this field, and a large number of research results have been published in academic journals around the world. However, there are few overviews of research progress, presentation, and development trends in this field. In this study, a total of 636 articles related to genetic factors of substance-related disorders were retrieved from the Web of Science (WoS) database from 1997 to 2018, and the scientific literatures were analyzed by bibliometrics. The study found that the United States (US) has maintained a leading position in the field of research, with many core institutions and plenty of high-quality research results. Alcohol use disorder is still the most concerning issue in this field. Over the past 20 years, new techniques such as genome-wide association study (GWAS) based on high-throughput sequencing technology have replaced family studies, twin studies, and retrospective studies in this field. We believe that it is urgent to study the genetic factors of substance-related disorders, which can greatly deepen the understanding of the pathogenesis of substance-related disorders and may provide potential targets for precise treatment of such diseases.
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BACKGROUND: Exercise, especially weight-bearing exercise (e.g. walking), may affect plantar tissue viability due to prolonged repetitive high vertical and high shear pressure stimulus on the plantar tissue, and further induce development of diabetic foot ulcers (DFUs). This study aimed to investigate the effects of different accumulated pressure-time integral (APTI) stimuli induced by walking on plantar skin blood flow (SBF) responses in people with diabetes mellitus (DM). METHODS: A repeated measures design was used in this study. Two walking protocols (low APTI (73,000 kPa·s) and high APTI (73,000 × 1.5 kPa·s)) were randomly assigned to ten people with DM and twenty people without DM. The ratio of SBF measured by laser Doppler flowmetry after walking to that before (normalized SBF) was used to express the SBF responses. RESULTS: After low APTI, plantar SBF of people with DM showed a similar response to people without DM (P = 0.91). However, after high APTI, people with DM had a significantly lower plantar SBF compared to people without DM (P < 0.05). In people with DM, plantar SBF in the first 2 min after both APTI stimuli significantly decreased compared to plantar SBF before walking (P < 0.05). CONCLUSIONS: People with DM had a normal SBF response after low APTI walking but had an impaired SBF response after high APTI walking, which suggests that they should avoid weight-bearing physical activity with intensity more than 73,000 kPa·s and should rest for more than 2 min after weight-bearing physical activity to allow a full vasodilatory response to reduce risk of DFUs.
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Diabetes Mellitus , Pie Diabético , Humanos , Flujo Sanguíneo Regional , Caminata , Soporte de PesoRESUMEN
Malignant pleural mesothelioma (MPM) is a highly aggressive cancer with short survival time. Unbalanced competing endogenous RNAs (ceRNAs) have been shown to participate in the tumor pathogenesis and served as biomarkers for the clinical prognosis. However, the comprehensive analyses of the ceRNA network in the prognosis of MPM are still rarely reported. In this study, we obtained the transcriptome data of the MPM and the normal samples from TCGA, EGA, and GEO databases and identified the differentially expressed (DE) mRNAs, lncRNAs, and miRNAs. The functions of the prognostic genes and the overlapped DEmRNAs were further annotated by the multiple enrichment analyses. Then, the targeting relationships among lncRNA-miRNA and miRNA-mRNA were predicted and calculated, and a prognostic ceRNA regulatory network was established. We included the prognostic 73 mRNAs and 13 miRNAs and 26 lncRNAs into the ceRNA network. Moreover, 33 mRNAs, three miRNAs, and seven lncRNAs were finally associated with prognosis, and a model including seven mRNAs, two lincRNAs, and some clinical factors was finally established and validated by two independent cohorts, where CDK6 and SGMS1-AS1 were significant to be independent prognostic factors. In addition, the identified co-expressed modules associated with the prognosis were overrepresented in the ceRNA network. Multiple enrichment analyses showed the important roles of the extracellular matrix components and cell division dysfunction in the invasion of MPM potentially. In summary, the prognostic ceRNA network of MPM was established and analyzed for the first time and these findings shed light on the function of ceRNAs and revealed the potential prognostic and therapeutic biomarkers of MPM.
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BACKGROUND: Marfan syndrome (MFS) is a connective tissue disease involving multiple organs and systems such as cardiovascular, skeletal, and ocular systems and is also an autosomal dominant inheritance disorder. METHOD: A 30-year-old woman was rushed into the hospital owing to sudden persistent pain in the abdomen and died suddenly 2 days later. To find the real cause of death, a forensic autopsy was conducted owing to suspected medical malpractice, and the diagnosis of MFS was made in accordance with the 2010 revised Ghent nosology. By sequencing the gene of Marfan, aneurysm, and related disorders, a novel splicing mutation in the fibrillin-1 gene (FBN1) was detected. For the clinical characteristic findings (wrist and thumb sign) of the daughter, we recommend genetic analysis for the family. To better understand the role of the variant in the disease, we also investigated functional validation of this mutation. RESULTS: According to the autopsy findings, the cause of death was acute cardiac tamponade caused by aortic rupture. DNA sequencing revealed a novel splicing mutation, c.5672-2delA, which was also detected in her daughter (II2). The functional validation of this mutation showed the base deletion at the same site in the PCR products using cDNA as a template. It is suggested that this mutation may cause abnormal spliceosome during transcription and may encode abnormal protein. CONCLUSION: A novel pathogenic splicing mutation (c.5672-2delA) was confirmed. Present work enriches the profile mutations in FBN1 associated with MFS and stresses the importance of postmortem genetic analysis in such cases.
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Fibrilina-1/genética , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/genética , Mutación , Empalme del ARN/genética , Adulto , Rotura de la Aorta/etiología , Autopsia , Taponamiento Cardíaco/etiología , Femenino , Humanos , Síndrome de Marfan/complicaciones , Análisis de Secuencia de ADNRESUMEN
Backgroud: Pre-eclampsia (PE) is a common pregnancy-induced hypertension disease. Some case-control studies reported the association between vascular endothelial growth factor (VEGF) gene polymorphisms (rs3025039, rs2010963) and PE risk. However, these associations were inconsistent in several studies. Therefore, we conducted this meta-analysis to assess the role of VEGF gene polymorphisms in PE more precisely. METHODS: Eligible studies were searched in PubMed, Embase, Web of Science and Chinese (Chinese National Knowledge Infrastructure (CNKI) and WanFang) databases. Statistical analyses were performed by Stata 12.0 software. Odds ratio (OR) and 95% confidence interval (CI) were used to assess the strength of the association. In addition, subgroup analyses, sensitive analyses and publication bias analyses were performed to further assess this meta-analysis. RESULTS: In total, 21 studies were included in the meta-analysis covering 2018 cases and 2632 controls. There were significant associations between VEGF polymorphisms (rs3025039, rs2010963) and PE risk in the overall populations. In the subgroup analyses, we found that rs3025039 polymorphism was associated with the increased risk of PE among Chinese. As for rs2010963 polymorphism, a significant association was observed in subgroup of Caucasian. CONCLUSION: The present study suggested that the two VEGF gene polymorphisms (rs3025039, rs2010963) are associated with increased risk of PE in different ethnic groups, which means that the targets may be useful genetic markers for early prediction of PE.
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Predisposición Genética a la Enfermedad , Preeclampsia/genética , Factor A de Crecimiento Endotelial Vascular/genética , Pueblo Asiatico/genética , Femenino , Estudios de Asociación Genética , Humanos , Polimorfismo de Nucleótido Simple , Preeclampsia/epidemiología , Embarazo , Población Blanca/genéticaRESUMEN
Autism spectrum disorder (ASD) cases have increased rapidly in recent decades, which is associated with various genetic abnormalities. To provide a better understanding of the genetic factors in ASD, we assessed the global scientific output of the related studies. A total of 2944 studies published between 1997 and 2018 were included by systematic retrieval from the Web of Science (WoS) database, whose scientific landscapes were drawn and the tendencies and research frontiers were explored through bibliometric methods. The United States has been acting as a leading explorer of the field worldwide in recent years. The rapid development of high-throughput technologies and bioinformatics transferred the research method from the traditional classic method to a big data-based pipeline. As a consequence, the focused research area and tendency were also changed, as the contribution of de novo mutations in ASD has been a research hotspot in the past several years and probably will remain one into the near future, which is consistent with the current opinions of the major etiology of ASD. Therefore, more attention and financial support should be paid to the deciphering of the de novo mutations in ASD. Meanwhile, the effective cooperation of multi-research centers and scientists in different fields should be advocated in the next step of scientific research undertaken.
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Genetic mutations are the major pathogenic factor of Autism Spectrum Disorder (ASD). In recent years, more and more ASD risk genes have been revealed, among which there are a group of transcriptional regulators. Considering the similarity of the core clinical phenotypes, it is possible that these different factors may regulate the expression levels of certain key targets. Identification of these targets could facilitate the understanding of the etiology and developing of novel diagnostic and therapeutic methods. Therefore, we performed integrated transcriptome analyses of RNA-Seq and microarray data in multiple ASD mouse models and identified a number of common downstream genes in various brain regions, many of which are related to the structure and function of the synapse components or drug addiction. We then established protein-protein interaction networks of the overlapped targets and isolated the hub genes by 11 algorithms based on the topological structure of the networks, including Sdc4, Vegfa, and Cp in the Cortex-Adult subgroup, Gria1 in the Cortex-Juvenile subgroup, and Kdr, S1pr1, Ubc, Grm2, Grin2b, Nrxn1, Pdyn, Grin3a, Itgam, Grin2a, Gabra2, and Camk4 in the Hippocampus-Adult subgroup, many of which have been associated with ASD in previous studies. Finally, we cross compared our results with human brain transcriptional data sets and verified several key candidates, which may play important role in the pathology process of ASD, including SDC4, CP, S1PR1, UBC, PDYN, GRIN2A, GABRA2, and CAMK4. In summary, by integrated bioinformatics analysis, we have identified a series of potentially important molecules for future ASD research. Autism Res 2020, 13: 352-368. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Abnormal transcriptional regulation accounts for a significant portion of Autism Spectrum Disorder. In this study, we performed transcriptome analyses of mouse models to identify common downstream targets of transcriptional regulators involved in ASD. We identified several recurrent target genes that are close related to the common pathological process of ASD, including SDC4, CP, S1PR1, UBC, PDYN, GRM2, NRXN1, GRIN3A, ITGAM, GRIN2A, GABRA2, and CAMK4. These results provide potentially important targets for understanding the molecular mechanism of ASD.
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Trastorno del Espectro Autista/genética , Trastorno del Espectro Autista/fisiopatología , Encéfalo/fisiopatología , Perfilación de la Expresión Génica/métodos , Animales , Modelos Animales de Enfermedad , Femenino , Regulación de la Expresión Génica/genética , Humanos , Masculino , RatonesRESUMEN
Objective: Poor blood flow supply is an important pathological factor that leads to the development and deterioration of diabetic foot ulcers. This study aims to investigate the acute effects of local vibration with varying intermittent durations on the plantar skin blood flow (SBF) response in diabetic and healthy subjects. Methods: Eleven diabetic patients (7 males, 4 females) and 15 healthy adults (6 males, 9 females) participated in this experiment and accepted three tests. Local continuous vibration (LCV) and two levels of local intermittent vibration (LIV1 and LIV2) were randomly applied to the middle metatarsal head of each subject's right foot in each test. The SBF was measured prior to intervention (Baseline), during Vibration and during the Recovery Stage for each test. The mean SBF in each stage, the change percentages and change rates of SBF in Vibration and Recovery stage among three tests were compared and analyzed for both diabetic and healthy subjects. Results: For diabetic subjects, the SBF was significantly increased in both Vibration and Recovery Stage with local intermittent vibrations (LIV1 and LIV2), but not with LCV. However, there was no significant difference in change percentage and change rate of SBF in diabetic subjects across the three tests. For healthy subjects, all vibration interventions significantly increased the SBF in the Vibration Stage and in the first 1.5 min of the Recovery Stage. Also, the change rate of SBF during the Vibration stage in LIV1 test was significantly greater than that in LIV2 test for healthy subjects. Moreover, change percentage of SBF in Vibration stage of LIV1 test and in some periods of Recovery stages of LIV1 and LIV2 tests for diabetic subjects were lower than for healthy subjects; the absolute change rate of SBF in LIV1 test for diabetic subjects was also lower than for healthy subjects. Conclusion: These findings suggest that both LIV1 and LIV2 may effectively improve SBF in the feet of diabetic people, but LCV may not achieve the same level of vasodilatation. The diabetic subjects were also found to have a lower SBF response to applied vibration than the healthy subjects.
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Primary intraventricular hemorrhage (PIVH) is a rare type of stroke defined as bleeding within the ventricles of the brain without any associated parenchymal hemorrhage. Here, we reported two cases of sudden death due to PIVH. One of the patients was found dead under a highway bridge without witnesses, and the other patient was hospitalized with hemorrhage in the ventricular system, as revealed by a head computed tomography scan. In these two patients, autopsy and macroscopic examination only showed hemorrhages in the ventricular system without any traumatic brain injury or other intraparenchymal hemorrhage. The sources of bleeding for both patients were ultimately confirmed as ruptured brain arteriovenous malformations located in the subventricular zone. We reported these cases to broaden our understanding of sudden death associated with PIVH, especially when caused by brain arteriovenous malformation. We also summarized the essential details of the diagnoses and available technical methods for PIVH cases.