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1.
Front Oncol ; 14: 1278245, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38496763

RESUMO

Background: Metastasis in penile corpus cavernosum from adenocarcinoma of lung is a rare but fatal disease, which was reported in cases without series studies. It causes various clinical symptoms seriously affecting the quality of life. Case presentation: A 72-year-old male smoker patient, who had a history of adenocarcinoma of lung after targeted therapy 36 months before, was admitted to Jiangxi Cancer Hospital because of presenting with aggressive dysuria and penis pain for one hour. A Foley catheter was inserted into the patient's bladder with difficulty. Immediately do a bladder puncture. Emergency pelvic computed tomography (CT): a soft tissue nodule of 1.1 cm×1.4 cm was found in the cavernous area of the middle part of the penis, and the proximal urethra was dilated with a wide diameter of about 1.5 cm. The diagnosis of metastatic lung adenocarcinoma from the primary was made by CT-guided biopsy. Conclusion: The penis may be a site of metastasis from primary lung cancer, especially for old patient. Metastasis to the penis usually indicates that the primary lung cancer is at an advanced stage and the prognosis is very poor. More research is necessary to understand the underlying mechanism of adenocarcinoma of lung metastasis.

2.
Int J Endocrinol ; 2022: 7506767, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36389128

RESUMO

Background: Previous studies have revealed that triglyceride-rich lipoprotein cholesterol (TRL-c) is closely related to diabetes mellitus (DM) in hypertensive patients. However, this relationship in stroke patients has not been reported. The aims of this study are to investigate the relationship between TRL-c and diabetes in adult Chinese stroke. Methods: Patients with stroke treated in the Department of Neurology of the Second Affiliated Hospital of Nanchang University from January 2019 to January 2021 were selected. TRL-c was calculated from total cholesterol minus (high-density and low-density lipoprotein). DM was diagnosed based on previous medical history (diagnosed by secondary hospitals or above) and/or current use of hypoglycemic drugs and/or intravenous blood glucose measurement (fasting blood glucose ≥7.0 mmol/L or nonfasting blood glucose > 11.1 mmol/L). The relationship between the TRL-c and DM was determined using multivariate logistic regression, smoothing curve fitting (penalized spline method), and subgroup analysis. Results: A total of 890 patients with stroke (age, 66.1 ± 11.8 years) were enrolled, including 329 females. Multivariate logistic regression analysis demonstrated that TRL-c had a positive association with DM (OR 1.88; 95% CI: 1.22 to 2.89). Strong linear associations of TRL-c with DM were confirmed by restricted cubic spline analysis. And the association between TRL-c and DM was consistent in the different subgroups. Conclusion: Positive associations were found between TRL-c and DM in patients with stroke.

3.
Biochem Biophys Res Commun ; 608: 108-115, 2022 06 11.
Artigo em Inglês | MEDLINE | ID: mdl-35397422

RESUMO

T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive cancer with poor clinical outcome. Poricoic acid A (PAA) is the main chemical constituent on the surface layer of the mushroom Poria cocos, and exerts protective effects against various diseases. In the study, its effects on T-ALL progression were investigated both in vitro and in vivo. Our results showed that PAA strongly reduced the cell viability of T-ALL cell lines, and induced cell G2 cycle arrest and apoptosis in vitro. Mitochondrial dysfunction was also elevated by PAA, along with enhanced cellular reactive oxygen species (ROS) production. Importantly, PAA-suppressed cell viability and -triggered apoptosis were ROS-dependent. Additionally, autophagy was significantly induced by PAA in T-ALL cells through regulating AMP-activated protein kinase (AMPK)/mammalian target of rapamycin (mTOR) and LC3 signaling pathways. PAA treatments also provoked ferroptosis in T-ALL cells with reduced glutathione (GSH) levels and elevated malonaldehyde (MDA) contents. Suppressing autophagy and ferroptosis almost abrogated the capacity of PAA to restrain T-ALL proliferation and growth. The effects of PAA to suppress T-ALL tumor growth were also confirmed in vivo with undetectable toxicity. Therefore, the present study highlighted the potential of PAA for T-ALL treatment mainly through inducing autophagic cell death and ferroptosis.


Assuntos
Morte Celular Autofágica , Ferroptose , Leucemia-Linfoma Linfoblástico de Células T Precursoras , Apoptose , Autofagia , Linhagem Celular Tumoral , Humanos , Leucemia-Linfoma Linfoblástico de Células T Precursoras/tratamento farmacológico , Espécies Reativas de Oxigênio/metabolismo , Linfócitos T/metabolismo , Triterpenos
4.
Neurol Sci ; 42(1): 141-150, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32556747

RESUMO

OBJECTIVE: To summarize and analyze the clinical data of 12 Chinese patients of cerebral hemorrhage with bilateral sudden deafness as the first symptom and to explore the relationship between cerebral hemorrhage and bilateral sudden deafness. METHODS: Retrospective analysis of clinical data of patients, including age, clinical manifestations, location of cerebral hemorrhage, hearing loss, and recovery. RESULTS: The average age of onset in 12 patients was 53.92 years, 9 had a history of hypertension, 7 had a history of stroke, and 6 had typical stroke symptoms. There were 7 cases of basal ganglia hemorrhage; 2 cases of cerebellum hemorrhage; and 1 case of pontine hemorrhage, temporal lobe hemorrhage, and thalamus infarction. The auditory brainstem evoked potential test results of 3 patients were normal, and 5 of 6 patients who completed pure tone audiometry had hearing impairment. Five out of 9 patients had basically or completely recovered hearing. CONCLUSION: The results showed that patients were mostly middle-aged and elderly with no typical stroke symptoms, and a history of stroke and hypertension increased the risk of hearing loss. The cause of hearing loss in patients with cerebral hemorrhage may be related to the damage of the hearing conduction pathway or (and) the lack of blood supply to the central auditory nervous system. Detecting hearing impairment in time and actively intervening can help most patients to improve their hearing significantly. The degree of hearing damage and recovery is related to the bleeding site, the amount of bleeding, and the timely treatment.


Assuntos
Surdez , Perda Auditiva Súbita , Acidente Vascular Cerebral , Idoso , Hemorragia Cerebral/complicações , Hemorragia Cerebral/diagnóstico por imagem , Perda Auditiva Súbita/complicações , Perda Auditiva Súbita/diagnóstico , Testes Auditivos , Humanos , Pessoa de Meia-Idade , Estudos Retrospectivos
6.
Cell Mol Biol (Noisy-le-grand) ; 66(6): 41-45, 2020 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-33040783

RESUMO

Mycoplasma is a gram-negative with thin wall bacterium that in humans, Mycoplasma pneumoniae causes pneumonia. This experiment was designed to explore the changes of myocardial enzymes in the mycoplasma pneumoniae pneumonia (MPP) child patients, and analyze the clinical value of these changes, in combination with the relevant indicators, symptoms and signs, in the evaluation of the pneumonia mycoplasma infection. For this aim, a total of 120 child patients with MPP in the acute phase,120 child patients with MPP in the recovery phase and 120 healthy children were simultaneously enrolled into this study to detect the levels of aspartate aminotransferase (AST), creatine kinase (CK), Creatine Kinase Isoenzyme (CK-MB) and lactic dehydrogenase (LDH) in blood. Results showed that MPP patients in the acute phase had higher levels of LDH, CK, CK-MB, AST, PCt, CRP, MPV, PDW, PCt, percentage of neutrophils, WBC count in the peripheral blood and ESR than those of the patients in the recovery patients and healthy children, while the level of PLT was lower (all P<0.05). In the acute phase, the level of CK-MB correlated to the fever, fever duration, extrapulmonary organ damage (except for the myocardial damage) and the antibody titer of MP (all P<0.05). It was concluded that in the acute phase of MMP, the level of CK-MB could not only reflect the myocardial damage readily but also the infection of MP as well as the resultant inflammation and disease progression, which could effectively guide the diagnosis and treatment of MPP.


Assuntos
Creatina Quinase Forma MB/metabolismo , Miocárdio/metabolismo , Pneumonia por Mycoplasma/metabolismo , Aspartato Aminotransferases/metabolismo , Proteína C-Reativa/metabolismo , Criança , Pré-Escolar , Creatina Quinase/metabolismo , Feminino , Febre/metabolismo , Humanos , Lactente , Masculino , Mycoplasma pneumoniae/patogenicidade , Neutrófilos/metabolismo
7.
Cell Death Dis ; 11(5): 393, 2020 05 23.
Artigo em Inglês | MEDLINE | ID: mdl-32447342

RESUMO

Prostate cancer (PC) is a prevalent male malignancy with high occurrence rate. Recent studies have showed that small nucleolar host genes (SNHGs) and their homolog small nucleolar RNAs (snoRNAs) elicit regulatory functions in carcinogenesis. Present study aimed to investigate the role of SNHG17 and its homolog SNORA71B in PC. Function of SNHG17 and SNORA71B in PC is detected by CCK-8, colony formation, flow cytometry analysis of apoptosis, and transwell migration assay. The mechanism whereby SNHG17 regulated SNORA71B was detected by RIP, pulldown, ChIP, and luciferase reporter assays. Results depicted that transcript 6 of SNHG17 and SNORA71B were upregulated in PC. Knockdown of SNHG17 or SNORA71B weakened proliferation, invasion, migration, and epithelial-to-mesenchymal transition (EMT) and strengthened apoptosis. Mechanistically, SNHG17 and SNORA71B were transcriptionally activated by signal transducer and activator of transcription 5A (STAT5A). SNHG17 positively regulated SNORA71B in PC cell lines and other cell lines. SNHG17 sponged miR-339-5p to upregulate STAT5A and therefore to cause transactivation of SNORA71B. Rescue experiments delineated that SNORA71B was required for the regulation of SNHG17 on PC. Moreover, SNHG17 silence hindered tumorigenesis of PC in vivo. In conclusion, current study first revealed that lncRNA SNHG17 aggravated prostate cancer progression through regulating its homolog SNORA71B via a positive feedback loop, which might do help to the pursuit of better PC treatment.


Assuntos
Carcinogênese/genética , Proliferação de Células/genética , Neoplasias da Próstata/genética , RNA Longo não Codificante/genética , Apoptose/genética , Linhagem Celular Tumoral , Movimento Celular/genética , Regulação Neoplásica da Expressão Gênica/genética , Humanos , Masculino , Próstata/metabolismo , Neoplasias da Próstata/patologia
8.
Neurol Sci ; 41(1): 155-160, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31485862

RESUMO

BACKGROUND: Spinal cerebellar ataxia 11 (SCA11) is a rare disease, characterized by progressive cerebellar ataxia, abnormal eye sign. Four families have been reported in the past. We report on China's first family with spinocerebellar ataxia 11. METHODS: A careful investigation of the clinical manifestations, brain imaging, and exome and Sanger sequencing were utilized to identify pathogenic genetic variants in a three-generation pedigree that includes 5 affected individuals. RESULTS: The proband and affected members began to develop cerebellar ataxia, dysarthria, nystagmus, and strabismus at approximately age 40 for no apparent reason. The lifespan of patients in the family is shortened. Brain MRIs showed cerebellar atrophy and slight atrophy of the bulbar medulla. Electromyography showed extensive neurogenic damage. Sensory evoked potentials of lower limbs showed damage to the spinal-brainstem-cortical conduction pathway. Genetic analysis revealed a novel point mutation (c.3290T>C) in the TTBK2 gene encoding tau-microtubule kinase 2, which led to an amino acid exchange (p.Val1097Ala). The missense mutation segregated with the phenotype. The mutation has a very low mutation rate in the population, the variant amino acids are highly conserved among species, and protein function damage prediction at the mutation site is detrimental and is highly likely to cause protein damage. The pathogenicity prediction of the mutation site shows that it is likely to cause disease. This variation is consistent with the diagnosis of SCA11. CONCLUSION: The first SCA11-affected family in China was characterized by gait instability, movement disorders and dysarthria with obvious cerebellar atrophy. The pathogenic allele was a c.3290T>C mutation in the TTBK2 gene.


Assuntos
Proteínas Serina-Treonina Quinases/genética , Ataxias Espinocerebelares/diagnóstico por imagem , Ataxias Espinocerebelares/genética , Adulto , China , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Linhagem
9.
Orphanet J Rare Dis ; 14(1): 234, 2019 10 26.
Artigo em Inglês | MEDLINE | ID: mdl-31655616

RESUMO

BACKGROUND: Neutral lipid storage disease with myopathy (NLSDM) is a rare clinical heterogeneous disorder caused by mutations in the patatin-like phospholipase domain-containing 2 (PNPLA2) gene. NLSDM usually presents skeletal myopathy, cardiomyopathy and the multiple organs dysfunction. Around 50 cases of NLSDM have been described worldwide, whereas the comprehensive understanding of this disease are still limited. We therefore recruit NLSDM patients from 10 centers across China, summarize the clinical, muscle imaging, pathological and genetic features, and analyze the genotype-phenotype relationship. RESULTS: A total of 45 NLSDM patients (18 men and 27 women) were recruited from 40 unrelated families. Thirteen patients were born from consanguineous parents. The phenotypes were classified as asymptomatic hyperCKemia (2/45), pure skeletal myopathy (18/45), pure cardiomyopathy (4/45), and the combination of skeletal myopathy and cardiomyopathy (21/45). Right upper limb weakness was the early and prominent feature in 61.5% of patients. On muscle MRI, the long head of the biceps femoris, semimembranosus and adductor magnus on thighs, the soleus and medial head of the gastrocnemius on lower legs showed the most severe fatty infiltration. Thirty-three families were carrying homozygous mutations, while seven families were carrying compound heterozygous mutations. A total of 23 mutations were identified including 11 (47.8%) point mutations, eight (34.8%) deletions and four (17.4%) insertions. c.757 + 1G > T, c.245G > A and c.187 + 1G > A were the three most frequent mutations. Among four groups of phenotypes, significant differences were shown in disease onset (< 20 years versus ≥20 years old, p = 0.003) and muscle pathology (with rimmed vacuoles versus without rimmed vacuoles, p = 0.001). PNPLA2 mutational type or functional defects did not show great impact on phenotypes. CONCLUSION: We outline the clinical and genetic spectrum in a large cohort of NLSDM patients. Selective muscle fatty infiltration on posterior compartment of legs are characteristic of NLSDM. Chinese patients present with distinctive and relative hotspot PNPLA2 mutations. The disease onset age and pathological appearance of rimmed vacuoles are proved to be related with the clinical manifestations. The phenotypes are not strongly influenced by genetic defects, suggesting the multiple environmental risk factors in the development of NLSDM.


Assuntos
Erros Inatos do Metabolismo Lipídico/diagnóstico por imagem , Erros Inatos do Metabolismo Lipídico/epidemiologia , Doenças Musculares/diagnóstico por imagem , Doenças Musculares/epidemiologia , China , Estudos de Coortes , Feminino , Predisposição Genética para Doença , Humanos , Erros Inatos do Metabolismo Lipídico/genética , Masculino , Músculo Esquelético/diagnóstico por imagem , Doenças Musculares/genética
10.
Biosci Rep ; 39(5)2019 05 31.
Artigo em Inglês | MEDLINE | ID: mdl-30992391

RESUMO

LncRNA SOX21 antisense RNA 1 (SOX21-AS1) dysregulated in many types of human cancer, and functioned as tumor suppressor or promoter depending on tumor types. However, there was no report about the role of SOX21-AS1 in nephroblastoma. In the present study, we first found that SOX21-AS1 expression was elevated in nephroblastoma tissues and cell lines compared with adjacent normal tissues and normal human embryonic kidney cell line, respectively. Moreover, we observed nephroblastoma patients with large tumor size, advanced National Wilms Tumor Study (NWTS) stage or unfavorable histopathological type, and patients that had higher SOX21-AS1 expression levels than nephroblastoma patients with small tumor size, early NWTS stage or favorable histopathological type. The in vitro studies suggested that knockdown of SOX21-AS1 suppressed nephroblastoma cell proliferation and colony formation, and induced cell-cycle arrest through up-regulating p57 expression. In conclusion, our study suggests that SOX21-AS1 functions as oncogenic lncRNA in nephroblastoma, which may provide a novel insight for nephroblastoma carcinogenesis.


Assuntos
Proliferação de Células/genética , Neoplasias Renais/genética , Fatores de Transcrição SOXB2/genética , Tumor de Wilms/genética , Carcinogênese/genética , Carcinogênese/patologia , Pontos de Checagem do Ciclo Celular/genética , Linhagem Celular , Linhagem Celular Tumoral , Movimento Celular/genética , Regulação Neoplásica da Expressão Gênica/genética , Células HEK293 , Humanos , Neoplasias Renais/patologia , Prognóstico , Regiões Promotoras Genéticas/genética , Regulação para Cima/genética , Tumor de Wilms/patologia
11.
Medicine (Baltimore) ; 97(41): e12469, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30313036

RESUMO

RATIONALE: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a disorder characterized by a symmetrical, sensorimotor involvement and slowly progressive onset peripheral neuropathy. Peripheral neuropathies have been reported in some central demyelination patients. However, the central nervous system focus in the CIDP patient can mimic neuromyelitis optica have not been recognized by most of us. PATIENT CONCERNS: The numbness and weakness of limbs about eight weeks. DIAGNOSES: Chronic inflammatory demyelinating polyradiculoneuropathy. INTERVENTIONS: Immunotherapy with intravenous immunoglobulins was applied to this patient. OUTCOMES: After 1 year follow-up, the results showed there was still slight numbness of all limbs, and he could walk slowly without help. Gastrocnemius muscle atrophy did not aggravate. LESSONS: So It is suggest that CIDP can combine with central lesions mimicking neuromyelitis optica. We should take the diagnosis of CIDP into consideration when we find focus in central nervous system.


Assuntos
Imageamento por Ressonância Magnética , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade
12.
Medicine (Baltimore) ; 97(38): e12506, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30235762

RESUMO

Limb-girdle muscular dystrophy 2L (LGMD2L) is mainly characterized by late adult onset, atrophy of proximal muscles, chronic progressive and asymmetric weakness, accompanied by increased creatine kinase (CK) levels, dystrophic pathological changes and electromyography showing myogenic damage. To date, familial LGMD2L was reported in European countries and had not been reported in China.A careful investigation of the clinical manifestations, muscle performance imaging, biopsy, and target next-generation sequencing (NGS) technology was utilized to identify pathogenic genetic variants in a 4-generation pedigree that includes 6 affected individuals.The results revealed mild-to-moderate hypertrophy of bilateral gastrocnemii and slight weakness and atrophy in the proximal muscles of the lower limbs, with obviously increased serum creatine kinase levels. The symptoms were more serious in the male proband but were also observed in females. Obvious and symmetric atrophy and fat infiltration of posterior segments of the thigh was evident in muscle magnetic resonance imaging (MRI). The pathological changes included a small amount of atrophic and hypertrophic fibers, scattered necrotizing fibers, a small number of increased nuclei, inward migration, mild proliferation of interstitial connective tissue, and no inflammatory cell infiltration. The pathogenic allele was a c.220C > T mutation in the anoctamin 5 (ANO5) gene.The LGMD2L family was characterized by mild chronic myopathy and bilateral gastrocnemius hypertrophy with obviously increased CK levels. Pathological changes included atrophy of fibers with interstitial connective tissues hyperplasia. The pathogenic allele was a c.220C> T mutation in the ANO5 gene.


Assuntos
Anoctaminas/genética , Músculo Esquelético/patologia , Distrofia Muscular do Cíngulo dos Membros/genética , Linhagem , Alelos , Biópsia , China , Creatina Quinase/sangue , Eletromiografia , Feminino , Humanos , Hipertrofia/genética , Hipertrofia/patologia , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/diagnóstico por imagem , Atrofia Muscular/genética , Atrofia Muscular/patologia , Distrofia Muscular do Cíngulo dos Membros/diagnóstico por imagem , Distrofia Muscular do Cíngulo dos Membros/patologia , Mutação
13.
Front Neurol ; 9: 588, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30116216

RESUMO

Objective: To investigate acute sleep deprivation (SD)-related regional brain activity changes and their relationships with behavioral performances. Methods: Twenty-two female subjects underwent an MRI scan and an attention network test at rested wakefulness (RW) status and after 24 h SD. The amplitude of low-frequency fluctuations (ALFF) was used to investigate SD-related regional brain activity changes. We used the receiver operating characteristic (ROC) curve to evaluate the ability of the ALFF differences in regional brain areas to distinguish the SD status from the RW status. We used Pearson correlations to evaluate the relationships between the ALFF differences in brain areas and the behavioral performances during the SD status. Results: Subjects at the SD status exhibited a lower accuracy rate and a longer reaction time relative to the RW status. Compared with RW, SD showed significant lower ALFF values in the right cerebellum anterior lobe, and higher ALFF areas in the bilateral inferior occipital gyrus, left thalamus, left insula, and bilateral postcentral gyrus. The area under the curve values of the specific ALFF differences in brain areas were (mean ± std, 0.851 ± 0.045; 0.805-0.93). Further, the ROC curve analysis demonstrated that the ALFF differences in those regional brain areas alone discriminated the SD status from the RW status with high degrees of sensitivities (82.16 ± 7.61%; 75-93.8%) and specificities (81.23 ± 11.39%; 62.5-93.7%). The accuracy rate showed negative correlations with the left inferior occipital gyrus, left thalamus, and left postcentral gyrus, and showed a positive correlation with the right cerebellum. Conclusions: The ALFF analysis is a potential indicator for detecting the excitation-inhibition imbalance of regional cortical activations disturbed by acute SD with high performances.

14.
BMC Neurol ; 17(1): 123, 2017 Jun 29.
Artigo em Inglês | MEDLINE | ID: mdl-28662631

RESUMO

BACKGROUND: Systemic lupus erythematosus (SLE) is an autoimmune inflammatory disorder characterized by multiple affected systems. More than half of SLE patients will suffer from neuropsychiatric lupus erythematosus (NPSLE) during the course of their disease. Although nearly half of the NPSLE patients have normal MRI manifestations, the abnormalities found in the remainder can be located anywhere in the brain, and especially in the subcortical white matter of the frontal and temporal lobe. However, NPSLE involving the medulla oblongata and spinal cord which presents as the "owl's eye" sign has to our best knowledge not been reported to date. CASE PRESENTATION: A 19-year-old girl presented at our hospital with a 7-day history of fever and headache since a one day's exertion, accompanied by 2 days of weakness. The patient had slurred speech. Neurological examination revealed the presence of horizontal nystagmus and a limitation of bilateral eye movement when looking up and down. At the same time, she showed difficulty in raising the jaw, accompanied by a weak pharyngeal reflex. Muscle strength was remarkably decreased in all four extremities: the MRCS grade of the upper limbs was 4/5, while in the lower limbs it was 0/5. Hypotonia was apparent in the lower extremities. Regarding subjective sensation, the patient appeared to be experiencing an increased sense of pain in the whole body, and especially in the cervical region, abdomen, and feet. An examination of shallow reflex documented the reinforcement of the abdominal reflex. Deep tendon reflexes were symmetric: absent in lower, normal in upper extremities. The patient also had a stiff neck with a positive Kernig's sign. The laboratory examination showed elevated C - reactive protein and rheumatoid factor, as well as complement components 3 and 4. Symptomatic treatments were applied, but she did not respond well, after which we did immunological laboratory examinations. The results showed the presence of anti-nRNP/Sm, anti-dsDNA and anti-AMA M2 antibodies. An MRI scan and enhancement of the cervical and thoracic regions displayed abnormal signs in the medulla and bilateral anterior horn of the lower thoracic spine. Following the exclusion of other possible diseases, neuropsychiatric lupus was diagnosed. High-dose intravenous gamma-globulin combined with methylprednisolone gradually improved her condition. CONCLUSION: We report the first case of NPSLE presenting with medulla oblongata and spinal cord involvement, manifesting as the "owl's eye" sign in MRI.


Assuntos
Lúpus Eritematoso Sistêmico/complicações , Vasculite Associada ao Lúpus do Sistema Nervoso Central/diagnóstico , Imageamento por Ressonância Magnética/métodos , Encéfalo/patologia , Feminino , Cefaleia/etiologia , Humanos , Bulbo , Metilprednisolona/uso terapêutico , Substância Branca/patologia , Adulto Jovem
15.
Neurologist ; 22(4): 107-115, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28644250

RESUMO

BACKGROUND: The aim of this work was to evaluate the relationships between cholesterol levels and risk of hemorrhagic stroke [including intracerebral hemorrhage (ICH) and subarachnoid hemorrhage (SAH)] in East Asian versus non-East Asian populations. MATERIALS AND METHODS: Relevant prospective studies were identified from systematic searches of PubMed and EMBASE. A random-effects model was used to calculate summary relative risks (RRs) and 95% confidence intervals (CIs) that were used to compare the relationships between cholesterol levels and risk of hemorrhagic stroke in East Asian versus non-East Asian populations. RESULTS: In terms of overall hemorrhagic stroke risk, both East Asians and non-East Asians displayed no significant difference between high versus low total cholesterol (TC) (RR=1.26, 95% CI, 0.92-1.72; I=74.4%, P<0.001; RR=1.69, 95% CI, 1.15-2.49; I=92.4%, P<0.001, respectively). In terms of ICH risk, East Asians displayed no significant difference between high versus low TC (RR=1.30, 95% CI, 0.89-1.90; I=78.6%, P<0.001), whereas non-East Asians displayed a significant difference between high versus low TC with low TC showing a higher ICH risk (RR=1.70, 95% CI, 1.08-2.67; I=91.2%, P<0.001). With respect to SAH risk, East Asians displayed a significant difference between high versus low TC with low TC showing a higher SAH risk (RR=1.48, 95% CI, 1.057-2.08; I=0%, P=0.682), whereas non-East Asians displayed no significant difference between high versus low TC (RR=1.14, 95% CI, 0.56-2.31; I=89.9%, P<0.001). CONCLUSIONS: Under low cholesterol conditions, East Asian ethnic status favors SAH development, whereas non-East Asian ethnic status favors ICH development.


Assuntos
Hemorragia Cerebral/etnologia , Acidente Vascular Cerebral/etnologia , Hemorragia Subaracnóidea/etnologia , Hemorragia Cerebral/complicações , Ásia Oriental/etnologia , Humanos , Acidente Vascular Cerebral/etiologia , Hemorragia Subaracnóidea/complicações
16.
J Hum Genet ; 59(5): 256-61, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24522293

RESUMO

Multiple Acyl-CoA dehydrogenation deficiency (MADD) is an autosomal recessive disorder of fatty acid oxidation and amino-acid metabolism. Most patients with late-onset MADD are well responsive to treatment with riboflavin, which is also termed as riboflavin-responsive MADD (RR-MADD). In this study, we summarized the clinical profiles and genetic features of 13 Chinese patients with RR-MADD and reanalyzed the existing data on RR-MADD patients in Mainland China. In a cohort comprising 13 patients, all were seen to present with severe muscular symptoms occasionally accompanied with mild involvements of extramuscular organs. A total of 18 mutations (13 reported and 5 novel) of the ETFDH gene were identified in this series of patients. Exon deletion/duplication was not found in all patients. ETF:QO expression from the muscle specimens was significantly decreased in all patients. At the time of this study the total number of RR-MADD cases had reached 148 in Mainland China since 2009. The muscle symptoms in Mainland China were similar to those in other regions. However, the common extramuscular symptoms were fatty liver and recurrent vomiting in mainland Chinese patients rather than encephalopathy found in Caucasian patients. A total of 68 mutations had been identified in 148 patients with RR-MADD. The c.250G>A had a high mutation frequency in Southern China, whereas c.770A>G and c.1227A>C were more geographically widespread hot spot mutations in Mainland China.


Assuntos
Deficiência Múltipla de Acil Coenzima A Desidrogenase/tratamento farmacológico , Riboflavina/uso terapêutico , Adulto , Povo Asiático , Biópsia , China , Análise Mutacional de DNA , Flavoproteínas Transferidoras de Elétrons/genética , Éxons , Feminino , Seguimentos , Expressão Gênica , Humanos , Proteínas Ferro-Enxofre/genética , Masculino , Pessoa de Meia-Idade , Deficiência Múltipla de Acil Coenzima A Desidrogenase/diagnóstico , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Mutação , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/genética , Resultado do Tratamento
17.
J Mater Sci Mater Med ; 19(3): 1275-81, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-17705054

RESUMO

A biodegradable Copolymer of poly(lactic acid-co-lysine)(PLA-PLL) was synthesized by a modified method and novel Arginine-Glycine-Aspartic (RGD) peptides were chemical conjugated to the primary epsilon-amine groups of lysine components in four steps: I to prepare the monomer of 3-(Nepsilon-benzoxycarbonyl-L-lysine)-6-L-methyl-2,5-morpholinedione; II to prepare diblock copolymer poly(lactic acid-co-(Z)-L-lysine) (PLA-PLL(Z)) by ring-opening polymerization of monomer and L,L-lactide with stannous octoate as initiator; III to prepare diblock copolymer PLA-PLL by deprotected the copolymer PLA-PLL(Z) in HBr/HoAc solution; IV the reaction between RGD and the primary epsilon-amine groups of the PLA-PLL. The structure of PLA-PLL-RGD and its precursors were conformed by FTIR-Raman and 1H NMR. Low weight average molecular weight (9,200 g/mol) of the PLA-PLL was obtained and its PDI is 1.33 determined by GPC. The PLA-PLL contained 2.1 mol% lysine groups as determined by 1H NMR using the lysine protecting group's phenyl protons. Therefore, the novel RGD-grafted diblock copolymer is expected to find application in drug carriers for tumor therapy or non-viral DNA carriers for gene therapy.


Assuntos
Arginina/química , Ácido Aspártico/química , Glicina/química , Ácido Láctico/química , Polilisina/química , Polímeros/síntese química , Ciclização , Modelos Biológicos , Peptídeos/química , Poliésteres , Polímeros/química , Análise Espectral
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