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1.
Artigo em Inglês | MEDLINE | ID: mdl-38581333

RESUMO

Objective: COPD patients have a high incidence of frailty and numerous complications, which seriously affect their quality of life. This study systematically evaluated and analyzed the current state of frailty incidence and risk factors in COPD patients to reduce the prevalence of frailty and enhance their quality of life. Method: The Cochrane Library, PubMed, Embase, Web of Science, CBM, CNKI, VIP, and Wanfang databases were searched for relevant studies from the inception of each database until November 2022. A thorough literature screening, quality evaluation, and data extraction was conducted. Meta-analysis was performed using RevMan5.3Meta. Twelve articles were selected as most relevant to this review; 10 were in Chinese, and 2 were in English. Results: The results showed that the incidence of asthenia in COPD patients was 26% (OR 0.26, 95% CI 0.17~0.34). Discussion: The main risk factors for frailty in COPD patients were age (OR 1.32, 95% CI 1.30~1.34), GOLD pulmonary function class (OR 3.18, 95% CI 2.14~4.71), mMRC score (OR 3.90, 95% CI 1.53~9.92), comorbidity (OR 2.17, 95% CI 1.48~3.18), polypharmacy (OR 6.74, 95% CI 3.23~14.08), malnutrition (OR 3.32, 95% CI 1.77~6.24), depression (OR 1.37, 95% CI 1.07~1.76) and ≥2 admissions within 1 year (OR 4.84, 95% CI 2.45~9.57). Conclusion: The study presented comprehensive evidence through meta-analysis and proposed that the prevalence of frailty in COPD patients is 26%. Risk factors were identified, including age, pulmonary function class according to GOLD criteria, mMRC score, comorbidity polypharmacy malnutrition, depression, or 2 or more hospital admissions within a year. It is recommended that clinical medical staff identify these risk factors at an early stage.

2.
iScience ; 27(3): 109133, 2024 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-38384850

RESUMO

Despite adjuvant chemotherapy and endocrine therapy in luminal breast cancer (LBC), relapses are common. Addressing this, we aim to develop a prognostic model to refine adjuvant therapy strategies, particularly for patients at high recurrence risk. Notably, obesity profoundly affects the tumor microenvironment (TME) of LBC. However, it is unclear whether obesity-related biological features can effectively screen high-risk patients. Utilizing weighted gene coexpression network analysis (WGCNA) on RNA sequencing (RNAseq) data, we identified seven obese LBC genes (OLGs) closely associated with patient prognosis. Subsequently, we developed a luminal obesity-gene clinical prognostic index (LOG-CPI), combining a 7-gene signature, TNM staging, and age. Its predictive efficacy was confirmed across validation datasets and a clinical cohort (5-year accuracy = 0.828, 0.760, 0.751, and 0.792, respectively). LOG-CPI emerges as a promising predictor for clinical prognosis and treatment response, helping distinguish molecular and immunological features in LBC patients and guiding clinical practice by identifying varying prognoses.

3.
J Ethnopharmacol ; 321: 117512, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38040130

RESUMO

ETHNOPHARMACOLOGICAL RELEVANCE: Coronavirus Disease 2019 (COVID-19) is a grave and pervasive global infectious malady brought about by Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), posing a significant menace to human well-being. Qingfei Paidu decoction (QFPD) represents a pioneering formulation derived from four classical Chinese medicine prescriptions. Substantiated evidence attests to its efficacy in alleviating clinical manifestations, mitigating the incidence of severe and critical conditions, and reducing mortality rates among COVID-19 patients. AIM OF THE STUDY: This study aims to investigate the protection effects of QFPD in mice afflicted with a coronavirus infection, with a particular focus on determining whether its mechanism involves the NLRP3 signaling pathway. MATERIALS AND METHODS: The coronavirus mice model was established through intranasal infection of Kunming mice with Hepatic Mouse Virus A59 (MHV-A59). In the dose-effect experiment, normal saline, ribavirin (80 mg/kg), or QFPD (5, 10, 20 g/kg) were administered to the mice 2 h following MHV-A59 infection. In the time-effect experiment, normal saline or QFPD (20 g/kg) was administered to mice 2 h post MHV-A59 infection. Following the assessment of mouse body weights, food consumption, and water intake, intragastric administration was conducted once daily at consistent intervals over a span of 5 days. The impact of QFPD on pathological alterations in the livers and lungs of MHV-A59-infected mice was evaluated through H&E staining. The viral loads of MHV-A59 in both the liver and lung were determined using qPCR. The expression levels of genes and proteins related to the NLRP3 pathway in the liver and lung were assessed through qPCR, Western Blot analysis, and immunofluorescence. RESULTS: The administration of QFPD was shown to ameliorate the reduced weight gain, decline in food consumption, and diminished water intake, all of which were repercussions of MHV-A59 infection in mice. QFPD treatment exhibited notable efficacy in safeguarding tissue integrity. The extent of hepatic and pulmonary injury, when coupled with QFPD treatment, demonstrated not only a reduction with higher treatment dosages but also a decline with prolonged treatment duration. In the dose-effect experiment, there was a notable, dose-dependent reduction in the viral loads, as well as the expression levels of IL-1ß, NLRP3, ASC, Caspase 1, Caspase-1 p20, GSDMD, GSDMD-N, and NF-κB within the liver of the QFPD-treated groups. Additionally, in the time-effects experiments, the viral loads and the expression levels of genes and proteins linked to the NLRP3 pathway were consistently lower in the QFPD-treated groups compared with the model control groups, particularly during the periods when their expressions reached their zenith in the model group. Notably, IL-18 showed only a modest elevation relative to the blank control group following QFPD treatment. CONCLUSIONS: To sum up, our current study demonstrated that QFPD treatment has the capacity to alleviate infection-related symptoms, mitigate tissue damage in infected organs, and suppress viral replication in coronavirus-infected mice. The protective attributes of QFPD in coronavirus-infected mice are plausibly associated with its modulation of the NLRP3 signaling pathway. We further infer that QFPD holds substantial promise in the context of coronavirus infection therapy.


Assuntos
COVID-19 , Lesão Pulmonar , Camundongos , Humanos , Animais , Proteína 3 que Contém Domínio de Pirina da Família NLR , Solução Salina , SARS-CoV-2 , Transdução de Sinais , Fígado
4.
Helicobacter ; 29(1): e13042, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38018403

RESUMO

BACKGROUND: It's still controversial whether Helicobacter pylori (H. pylori) eradication can reverse atrophic gastritis (AG) and intestinal metaplasia (IM). Therefore, we performed a meta-analysis to estimate the effect of H. pylori eradication on AG and IM. METHODS: We searched the PubMed, Web of Science and EMBASE datasets through April 2023 for epidemiological studies, which provided mean glandular atrophy (GA) or IM score before and after H. pylori eradication, or provided ORs, RRs or HRs and 95% CIs for the association of AG or IM with H. pylori eradication. Weighted mean difference (WMD) and pooled ORs and 95%CIs were used to estimate the effect of H. pylori eradication on AG and IM. RESULTS: Twenty articles with a total of 5242 participants were included in this meta-analysis. H. pylori eradication significantly decreased GA score in the antrum (WMD -0.36; 95% CI: -0.52, -0.19, p < 0.01), GA score in the corpus (WMD -0.35; 95% CI: -0.52, -0.19, p < 0.01), IM score in the antrum (WMD -0.16; 95% CI: -0.26, -0.07, p < 0.01) and IM score in the corpus (WMD -0.20; 95% CI: -0.37, -0.04, p = 0.01). H. pylori eradication significantly improved AG (pooled OR 2.96; 95% CI: 1.70, 5.14, p < 0.01) and IM (pooled OR 2.41; 95% CI: 1.24, 4.70, p < 0.01). The association remained significant in the subgroup analyses by study design, sites of lesions, regions and follow-up time. Although Publication bias was observed for AG, the association remained significant after trim-and-fill adjustment. CONCLUSIONS: H. pylori eradication could significantly improve AG and IM at early stage.


Assuntos
Gastrite Atrófica , Infecções por Helicobacter , Helicobacter pylori , Humanos , Gastrite Atrófica/patologia , Infecções por Helicobacter/complicações , Atrofia , Metaplasia/complicações
5.
J Transl Int Med ; 11(3): 226-233, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37662890

RESUMO

Chronic stress refers to continuous emotional changes and psychological pressure that individuals experience when they are unable to adjust and stabilize the internal environment over an extended period. It can increase the pressure on endocrine mediators and cytokines in the circulation, as well as tissues throughout the hypothalamic-pituitary-adrenaline (HPA) axis and sympathetic nervous system (SNS); thus, evolving the internal environment of the tumor. This review assesses several key issues, involving psychosocial factors, and integrates clinical, cellular, and molecular studies-as well as the latest research progress-to provide a mechanistic understanding regarding breast oncopsychology. We propose that chronic stress contributes to large individual diferences in the prognosis of breast cancer survivors because they change the basic physiological processes of the endocrine and immune systems, which in turn regulate tumor growth. The study of psychological and physiological reactions of breast cancer patients suggests a new idea for psychological intervention and clinical treatment for breast cancer patients.

6.
Eur J Surg Oncol ; 49(10): 106972, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37455181

RESUMO

INTRODUCTION: Few studies have evaluated variations of the main trunk of the superior mesenteric vessels. Particularly, the double superior mesenteric vein (DSMV) has not been described in detail. This study aimed to establish the definition, anatomical characteristics, and underlying clinical significance of the DSMV. MATERIALS AND METHODS: A total of 115 patients with colorectal cancer were included in this retrospective study between March 2020 and March 2022. The anatomical characteristics were analyzed using computed tomography, three-dimensional image reconstructions, and surgical videos. RESULTS: Among the patients enrolled, 22 (19.1%) had DSMVs. The median diameters of the right and left superior mesenteric veins were similar. The superior mesenteric artery was sandwiched between the right and the left superior mesenteric veins. The left superior mesenteric vein mainly crossed the ventral side of the superior mesenteric artery (63.6%). In 1 case, the right superior mesenteric vein was mistakenly resected intraoperatively. The DSMV was classified into types I and II based on whether the right and left trunks formed a common trunk; it was further classified into subtypes a and b based on the colonic vein confluence. The proportions of type I-a, I-b, II-a, and II-b were 4.5%, 27.3%, 9.1%, and 59.1%, respectively. The middle colic veins drained into the left superior mesenteric vein in 19 cases (86.4%). CONCLUSIONS: The DSMV is more common than previously thought. For the first time, the definition and four types of the DSMV were proposed. The presence of a DSMV should be considered during right hemicolectomies.


Assuntos
Neoplasias do Colo , Veias Mesentéricas , Humanos , Veias Mesentéricas/diagnóstico por imagem , Veias Mesentéricas/cirurgia , Neoplasias do Colo/cirurgia , Estudos Retrospectivos , Imageamento Tridimensional , Colectomia/métodos , Artéria Mesentérica Superior/diagnóstico por imagem , Tomografia
7.
Behav Brain Res ; 452: 114548, 2023 08 24.
Artigo em Inglês | MEDLINE | ID: mdl-37355234

RESUMO

Maternal separation (MS) is a type of early-life stress that has been linked to neuropsychiatric disorders, especially depression. Increasing evidence indicates that the adenosine triphosphate (ATP) level in the prefrontal cortex (PFC) is involved in the pathophysiology of depression. To investigate the potential relationship between ATP in PFC and antidepressant effects of electroacupuncture (EA) treatment, we assessed genes involved in ATP biosynthesis as well as the extracellular ATP levels in a rat model exposed to neonatal MS. Our results demonstrated that reduced expression of ABCG2 (an ATP-binding cassette protein) and ATP levels in the PFC of depressive-like rats exposed to MS can be attenuated by EA stimulus at the Baihui (GV20) and Yintang (GV29) acupoints. Moreover, the antidepressant effect of EA treatment was blocked by administration of suramin, a broad purinergic P2 receptor antagonist. Together, these results suggested that electroacupuncture may be able to modulate extracellular ATP levels in the PFC of depressive-like MS rats, potentially contributing to its antidepressant effects.


Assuntos
Eletroacupuntura , Ratos , Animais , Ratos Sprague-Dawley , Eletroacupuntura/métodos , Privação Materna , Córtex Pré-Frontal , Antidepressivos/farmacologia
8.
Polymers (Basel) ; 14(23)2022 Nov 25.
Artigo em Inglês | MEDLINE | ID: mdl-36501532

RESUMO

Economic development and infrastructure improvement will inevitably lead to the accumulation of construction waste and tailings, which has not only a huge impact on the environment but is also a waste of resources. Recycling these resources and making green concrete is an effective way to solve these problems. In this study, the salt spray erosion characteristics and erosion mechanism of tailings recycled concrete (TRC) with polypropylene fibers were studied through macro and micro methods. The results showed that its compressive strength and splitting tensile strength increased at first and then decreased, with the optimum content of 0.6-0.9%, and the strength increase coefficient reached its maximum value at the erosion period being 14 d to 28 d. Under the same erosion cycle, when the fiber content was low (≤0.6-0.9%), the erosion depth hardly fluctuated. While the fiber content changed from 0.6% to 1.2%, the erosion depth and curing ability (erosion for 90 days) increased by 16.29% and 11.20%, which implied that its erosion resistance decreased sharply. Through SEM microscopic analysis, it could be observed that when the fiber content was low, the matrix structure and porosity had little change; while the fiber content was excessive, the porosity increased greatly. The longer the erosion period was, the greater the cumulative expansion of salt crystals was, and the larger the porosity was, whose results were in good agreement with the experimental results. This research provides a significant theoretical basis for the application of TRC in engineering.

9.
Polymers (Basel) ; 14(14)2022 Jul 06.
Artigo em Inglês | MEDLINE | ID: mdl-35890534

RESUMO

To improve the deformation performance of recycled concrete with tailings (TRC), its carbonization characteristics and deterioration mechanism with different polypropylene fiber content were analyzed macroscopically and microscopically. The results showed that the fiber had little effect on the compressive strength, which increased first and then decreased, with the optimum content being 0.6%. The splitting tensile strength first increased and then tended to be stable, with the optimum dosage ranging from 0.6% to 0.9%. The more the content, the higher the peak strain and the lower the elastic modulus. The rising section of its constitutive curve changed little, while the falling section became more gentle. Carbonization made the relative dynamic elastic modulus change small with a trend of first increasing and then decreasing, and the optimum content was 0.6-0.9%. When the fiber content was small, the influence on the carbonization depth did not remain significant, but when it was large, the depth increased obviously, and this critical content was about 0.6%. Microscopically, through nuclear-magnetic resonance (NMR) and scanning electron microscope (SEM) analysis, due to the strong tensioning effect of the fiber, when a small amount was added, the porosity and pore structure had not been significantly changed, so the impact on its resistance to carbonization was not obvious. However, after excessive addition, the interface transition zone (ITZ) between different materials became larger, resulting in a significant increase of its harmful cracks and a great impact on the anti-carbonization ability, with the optimal content being about 0.6%. This study provides a theoretical reference for the deformation performance improvement measure of TRC, which would be helpful for the rapid promotion and application of green concrete in engineering practice.

10.
Med Sci Sports Exerc ; 54(8): 1309-1316, 2022 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-35389955

RESUMO

PURPOSE: This study aimed to identify the relationship and mechanism between skeletal muscle peroxisome proliferator-activated receptor ß/δ (PPARß/δ) and spontaneous hypertension. METHODS: Rats were divided into four groups ( n = 10): spontaneous hypertensive rats exercise group (SHR-E), spontaneous hypertensive rats sedentary group (SHR-S), Wistar-Kyoto control rats exercise group (WKY-E), and Wistar-Kyoto control rats sedentary group (WKY-S). Although the sedentary groups were placed on the treadmill without moving during the training sessions, the exercise groups were forced to run on a treadmill for 8 wk, 1 h·d -1 , 5 d·wk -1 . After training, the density and area of gastrocnemius microvessels were observed. PPARß/δ, vascular endothelial growth factor A (VEGFA), superoxide dismutase 2 (SOD-2), and nitric oxide synthase in gastrocnemius were measured by real-time quantitative polymerase chain reaction (RT-qPCR) and Western blot. RESULTS: Except the sixth week of age, the systolic blood pressure of SHR-S was significantly higher than that of WKY-S at all time periods. Exercise significantly reduced systolic blood pressure in SHR rats. Compared with the SHR-S group, the WKY-S group had significantly higher PPARß/δ protein level and density of skeletal muscle microvessels. Eight weeks of exercise increased the PPARß/δ, SOD-2, VEGFA, and microvessel density and area in the skeletal muscle of SHR. CONCLUSIONS: Exercise training promoted PPARß/δ mRNA and protein-level expression of PPARß/δ, SOD-2 and VEGFA in skeletal muscle, thus increasing the density and area of skeletal muscle blood vessels. These regulations contribute to the reduction of peripheral vascular resistance. This may be a potential mechanism of exercise to reduce blood pressure.


Assuntos
Hipertensão , PPAR delta , PPAR beta , Condicionamento Físico Animal , Animais , Pressão Sanguínea/fisiologia , Músculo Esquelético/metabolismo , PPAR delta/metabolismo , PPAR beta/metabolismo , Condicionamento Físico Animal/fisiologia , Ratos , Ratos Endogâmicos SHR , Ratos Endogâmicos WKY , Superóxido Dismutase/metabolismo , Fator A de Crescimento do Endotélio Vascular/metabolismo
11.
Bioengineered ; 12(1): 1861-1873, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34002673

RESUMO

Preeclampsia (PE) is a severe medical disorder during pregnancy and there has been controversy about the effects of vitamin E on PE. This research intended to explore if δ-tocotrienol (δ-TT), an isomer of vitamin E, could impact PE. Preeclamptic and normal placentas were obtained and total RNA was extracted. The expression of different genes was analyzed through quantitative real-time polymerase chain reaction (qRT-PCR) and Pearson correlation analysis was conducted. After that, HTR-8/SVneo cells (human trophoblasts) were chosen and they were subjected to δ-tocotrienol treatment and then Cell Counting Kit-8 was used to test cell viability. To assess the effects of δ-TT on trophoblasts, wound healing assay and Transwell invasion assay were performed. How miR-429 interacts with ZEB1 was examined via dual luciferase reporter assay. Also, protein expression was evaluated via Western blotting. Our results have shown that δ-TT can impair the viability of trophoblasts and induce their apoptosis. Additionally, it can repress the growth, migration, epithelial-mesenchymal transition (EMT), invasion and angiogenesis in trophoblasts. Mechanistically, δ-TT exerts these effects on trophoblasts via downregulating miR-429 and upregulating ZEB1. Furthermore, miR-429 can bind ZEB1 directly. Clinical sample analysis has revealed that miR-429 expression in preeclamptic placenta is higher than that in normal placenta, but ZEB1 expression in preeclamptic placenta is downregulated. Also, there is a negative association between miR-429 and ZEB1 expression in preeclamptic placentas. These discoveries imply that δ-TT may be hazardous to pregnancy and should not be used in preeclamptic patients. In addition, targeting miR-429 might treat PE.


Assuntos
Apoptose , Movimento Celular , MicroRNAs/metabolismo , Neovascularização Patológica/genética , Pré-Eclâmpsia/patologia , Trofoblastos/patologia , Vitamina E/análogos & derivados , Homeobox 1 de Ligação a E-box em Dedo de Zinco/metabolismo , Adulto , Apoptose/efeitos dos fármacos , Movimento Celular/efeitos dos fármacos , Proliferação de Células/efeitos dos fármacos , Proliferação de Células/genética , Transição Epitelial-Mesenquimal/efeitos dos fármacos , Transição Epitelial-Mesenquimal/genética , Feminino , Humanos , Neovascularização Patológica/patologia , Gravidez , Trofoblastos/efeitos dos fármacos , Vitamina E/farmacologia
12.
Knee Surg Sports Traumatol Arthrosc ; 21(5): 1140-5, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23223947

RESUMO

PURPOSE: To evaluate the effect of combined local anaesthetic and opioid in post-operative analgesia, the effect of intra-articular injection of local anaesthetic (ropivacaine), opioid (sufentanil) and combination of these two (ropivacaine combined with sufentanil) after the single-bundle anterior cruciate ligament reconstruction were compared. METHODS: In a prospective randomized double-blind design, 80 patients who underwent isolated anterior cruciate ligament reconstruction under epidural analgesia were randomly allocated to 4 groups, group A (n = 20) received 30 mL of 0.9% saline as the control group, group B (n = 20) received 10 mg ropivacaine and 2 µg sufentanil in 30 mL 0.9% saline, group C (n = 20) received 10 mg ropivacaine in 30 mL 0.9% saline, group D (n = 20) received 2 µg sufentanil in 30 mL 0.9% saline at the end of the operation. Pain was assessed by use of a 100-mm visual analogue scale (VAS) which was evaluated at 6 and 24 h post-operation. The pain VAS score in active straight leg raising exercise, sleep quality and the status of the administered supplementary analgesia drugs during the first 24 h were also collected. RESULTS: Pain scores of each of the three experiment groups were significantly lower than the control group in every aspect. Group B (ropivacaine with sufentanil) had significant lower pain score than group C (ropivacaine) and group D (sufentanil) both at 6 and 24 h after the operation. Patients in group B, C or D showed significant better sleep qualities than group A. Significantly more patients in group A received supplementary analgesia than group B, C or D. In group B, no patient needed to receive intramuscular dolantin as supplementary analgesia. CONCLUSIONS: Intra-articular injection of opioid (sufentanil), local anaesthetic (ropivacaine) or combination of these two kinds of agents could significantly reduce the pain following the reconstruction of anterior cruciate ligament. The combined intra-articular injection of opioid and local anaesthetic provided better analgesia effect than using sufentanil or ropivacaine alone. LEVEL OF EVIDENCE: Randomized controlled trial, Level I.


Assuntos
Amidas , Anestésicos Locais , Reconstrução do Ligamento Cruzado Anterior , Dor Pós-Operatória/tratamento farmacológico , Sufentanil , Adolescente , Adulto , Método Duplo-Cego , Feminino , Humanos , Injeções Intra-Articulares , Masculino , Estudos Prospectivos , Ropivacaina , Adulto Jovem
13.
Zhongguo Zhong Yao Za Zhi ; 32(24): 2636-9, 2007 Dec.
Artigo em Chinês | MEDLINE | ID: mdl-18338605

RESUMO

OBJECTIVE: To study the content of phytoestrogen in dissimilarity herbs. METHOD: The activity of phytoestrogen in heat-clearing drugs, drugs for relieving exterior syndrome, diuretic, anastaltics, tonics and astringents were detected based on the recombinant yeast cell (W303-1A/hER-ERE-Lac Z). The estrogenic activity in traditional Chinese materia medica were assayed quantitatively by determining the expression of beta-galactosidase. RESULT: The phytoestrogen concentration (6.35 x 10(-3) nmol x g(-1) E2 equivalent) in heat-clearing drugs was the highest while that in anastaltic and tonic drugs was the lowest, which was less than the detected limit. CONCLUSION: Compared with the other traditional Chinese materia medica, the content of phytoestrogen, which can bind to estrogen receptor, in giant knotweed rhizome, forsythia suspense, ash bark, baical skullcap root and ophiopogonis tuber were higher.


Assuntos
Medicamentos de Ervas Chinesas/farmacologia , Fitoestrógenos/análise , Plantas Medicinais/química , Saccharomyces cerevisiae/citologia , beta-Galactosidase/análise , Medicamentos de Ervas Chinesas/isolamento & purificação , Fitoestrógenos/metabolismo , Receptores de Estrogênio/metabolismo , Recombinação Genética , Saccharomyces cerevisiae/química , Saccharomyces cerevisiae/efeitos dos fármacos , Saccharomyces cerevisiae/genética
14.
Zhonghua Nei Ke Za Zhi ; 43(12): 924-7, 2004 Dec.
Artigo em Chinês | MEDLINE | ID: mdl-15730739

RESUMO

OBJECTIVE: To investigate the clinical features, hereditary pattern, neuroimaging characteristics and diagnostic method of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). METHODS: A systematic study on the clinical manifestations, neuroimaging characteristics, pathology and molecular genetics was performed. An investigation on the onset and hereditary pattern of the family tree of the proband was also done. RESULTS: The main clinical features of the proband including history of recurrent ischemic stroke, poor memory/cognition or dementia were noted. Fifteen cases pertaining to 4 generations of the proband with clinical or subclinical onset and confirmed classical family history of autosomal dominant hereditary were studied. Neuroimaging examination showed subcortical multiinfarct lesions and leukoencephalopathy. Electron microscope examination of the skin. Biopsy indicated thickening of basement membrane and presence of granular osmiophilic material (GOM) in the arterioles. A mutation on the fourth exon of notch 3 gene was revealed. Migraine, hypertension, diabetes and risk factors of arteriosclerosis were not found. All the features mentioned above in this family are in conformity with the diagnostic standard of CADASIL. CONCLUSIONS: It is possible to define CADASIL clinically by way of studying the clinical features, hereditary pattern, neuroimaging characteristics, skin biopsy and sequencing of gene without resorting to brain biopsy.


Assuntos
CADASIL/diagnóstico , CADASIL/genética , CADASIL/patologia , Diagnóstico Diferencial , Éxons/genética , Seguimentos , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Proteínas Proto-Oncogênicas/genética , Receptores de Superfície Celular/genética , Pele/patologia
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