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1.
Mult Scler ; 26(8): 912-923, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-31066634

RESUMO

OBJECTIVE: To validate kappa free light chain (KFLC) and lambda free light chain (LFLC) indices as a diagnostic biomarker in multiple sclerosis (MS). METHODS: We performed a multicenter study including 745 patients from 18 centers (219 controls and 526 clinically isolated syndrome (CIS)/MS patients) with a known oligoclonal IgG band (OCB) status. KFLC and LFLC were measured in paired cerebrospinal fluid (CSF) and serum samples. Gaussian mixture modeling was used to define a cut-off for KFLC and LFLC indexes. RESULTS: The cut-off for the KFLC index was 6.6 (95% confidence interval (CI) = 5.2-138.1). The cut-off for the LFLC index was 6.9 (95% CI = 4.5-22.2). For CIS/MS patients, sensitivity of the KFLC index (0.88; 95% CI = 0.85-0.90) was higher than OCB (0.82; 95%CI = 0.79-0.85; p < 0.001), but specificity (0.83; 95% CI = 0.78-0.88) was lower (OCB = 0.92; 95% CI = 0.89-0.96; p < 0.001). Both sensitivity and specificity for the LFLC index were lower than OCB. CONCLUSION: Compared with OCB, the KFLC index is more sensitive but less specific for diagnosing CIS/MS. Lacking an elevated KFLC index is more powerful for excluding MS compared with OCB but the latter is more important for ruling in a diagnosis of CIS/MS.


Assuntos
Cadeias kappa de Imunoglobulina/metabolismo , Cadeias lambda de Imunoglobulina/metabolismo , Esclerose Múltipla/diagnóstico , Bandas Oligoclonais , Adulto , Biomarcadores/sangue , Biomarcadores/líquido cefalorraquidiano , Feminino , Humanos , Cadeias kappa de Imunoglobulina/sangue , Cadeias kappa de Imunoglobulina/líquido cefalorraquidiano , Cadeias lambda de Imunoglobulina/sangue , Cadeias lambda de Imunoglobulina/líquido cefalorraquidiano , Masculino , Pessoa de Meia-Idade , Bandas Oligoclonais/sangue , Bandas Oligoclonais/líquido cefalorraquidiano , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
2.
Niger J Clin Pract ; 21(3): 312-317, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29519979

RESUMO

BACKGROUND: Preterm birth is one of the most challenging problems in obstetric care and it is closely related to perinatal mortality and morbidity. The aim of the current study was to document our experience with preterm births and to analyze the association between perinatal variables and clinical outcomes. METHODOLOGY: In this retrospective study, data were derived from the medical records of 785 singleton preterm births delivered in the obstetrics and gynecology department of our institution. Variables under investigation were maternal and gestational ages, fetal gender, route of delivery (vaginal vs. cesarean section [C/S]), causes of preterm birth, birth weight, placental weight, umbilical cord length, and Apgar scores at the 1st and 5th min. RESULTS: Pregnant women with advanced age (≥35 years) were more likely to undergo C/S (P < 0.001). Apgar score at the 1st and 5th min was influenced significantly by gestational age (P < 0.001), newborn birth weight (P < 0.001), placental weight (P < 0.001), and umbilical cord length (P < 0.001). Infants delivered due to antepartum fetal distress indication had remarkably lower Apgar scores at the 1st min and the birth weight seemed to be positively correlated with Apgar scores at both 1st (P < 0.001) and 5th min (P < 0.001). Apgar scores both at the 1st and 5th min were positively correlated with placental weight (R: 0.239 and 0.231, respectively, and P < 0.001 for both) and length of umbilical cord (R:0.228 and 0.211, respectively, and P < 0.001 for both). CONCLUSION: Advanced age pregnancies have higher C/S rates, but Apgar scores are significantly correlated with infant characteristics. Umbilical cord length and placental weight might be the new add-on predictors of postpartum well-being in premature infants.


Assuntos
Parto Obstétrico , Recém-Nascido Prematuro , Nascimento Prematuro , Adulto , Índice de Apgar , Peso ao Nascer , Cesárea , Feminino , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Gravidez , Complicações na Gravidez/epidemiologia , Resultado da Gravidez , Estudos Retrospectivos , Turquia/epidemiologia
3.
Mult Scler ; 21(8): 1013-24, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25680984

RESUMO

BACKGROUND AND OBJECTIVE: We explored which clinical and biochemical variables predict conversion from clinically isolated syndrome (CIS) to clinically definite multiple sclerosis (CDMS) in a large international cohort. METHODS: Thirty-three centres provided serum samples from 1047 CIS cases with at least two years' follow-up. Age, sex, clinical presentation, T2-hyperintense lesions, cerebrospinal fluid (CSF) oligoclonal bands (OCBs), CSF IgG index, CSF cell count, serum 25-hydroxyvitamin D3 (25-OH-D), cotinine and IgG titres against Epstein-Barr nuclear antigen 1 (EBNA-1) and cytomegalovirus were tested for association with risk of CDMS. RESULTS: At median follow-up of 4.31 years, 623 CIS cases converted to CDMS. Predictors of conversion in multivariable analyses were OCB (HR = 2.18, 95% CI = 1.71-2.77, p < 0.001), number of T2 lesions (two to nine lesions vs 0/1 lesions: HR = 1.97, 95% CI = 1.52-2.55, p < 0.001; >9 lesions vs 0/1 lesions: HR = 2.74, 95% CI = 2.04-3.68, p < 0.001) and age at CIS (HR per year inversely increase = 0.98, 95% CI = 0.98-0.99, p < 0.001). Lower 25-OH-D levels were associated with CDMS in univariable analysis, but this was attenuated in the multivariable model. OCB positivity was associated with higher EBNA-1 IgG titres. CONCLUSIONS: We validated MRI lesion load, OCB and age at CIS as the strongest independent predictors of conversion to CDMS in this multicentre setting. A role for vitamin D is suggested but requires further investigation.


Assuntos
Esclerose Múltipla/patologia , Adulto , Estudos de Coortes , Progressão da Doença , Endonucleases , Feminino , Seguimentos , Humanos , Imunoglobulina G/análise , Imageamento por Ressonância Magnética , Masculino , Esclerose Múltipla/líquido cefalorraquidiano , Proteínas Nucleares/análise , Bandas Oligoclonais/genética , Valor Preditivo dos Testes , Prognóstico , Medição de Risco , Análise de Sobrevida , Vitamina D/sangue
4.
Eur J Gynaecol Oncol ; 36(5): 579-84, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26513887

RESUMO

OBJECTIVE: Uncertainty concerning the treatment of Stage IB2-IIA (bulky) cervical cancer is still continuing. In this study, an analysis of Stage IB2-IIA (bulky) cervical cancer was performed. The efficacy of primary radical surgery and neoadjuvant chemotherapy followed by a radical surgery was investigated. MATERIALS AND METHODS: Medical data of 50 patients who were diagnosed with Stage 1B2-IIA (bulky) cervical cancer and treated between 2002-2009 were retrospectively assessed. In the radical surgery group, radical hysterectomy + bilateral pelvic + para-aortic lymphadenectomy were performed. In the neoadjuvant chemotherapy group, a combination of cisplatin/topotecan or paclitaxel/carboplatin was given to the patients and then radical surgery was performed. Each group was evaluated individually. Prognostic factors were determined and survival rates were compared between the groups. Ap value was taken < 0.05 for the statistical significance level for all results. RESULTS: Radical surgery after neoadjuvant chemotherapy was performed in 21 and primary radical surgery in 29 patients. Median follow-up time was 36.0 +/- 14.0 months. Average of the tumor size before treatment was 50.2 +/- 7.6 mm. In the radical surgery after neoadjuvant chemotherapy group, lymphovascular space invasion (LVSI) and tumor size (before and after treatment) were determined to be significant factors for each of disease-free survival (DFS) and overall survival (OS). On multivariate analysis, tumor size (before treatment) was found to be an independent prognostic factor for both of DFS (p = 0.006) and OS (p = 0.010). No significant difference in survival periods was observed among the groups. CONCLUSION: There was no significant superiority among the two treatment options. Nonetheless, further studies are needed to compare the multimodal approaches in these stages of cervical cancer.


Assuntos
Histerectomia/métodos , Neoplasias do Colo do Útero/terapia , Adulto , Idoso , Quimioterapia Adjuvante , Intervalo Livre de Doença , Feminino , Humanos , Pessoa de Meia-Idade , Terapia Neoadjuvante , Estadiamento de Neoplasias , Neoplasias do Colo do Útero/mortalidade , Neoplasias do Colo do Útero/patologia
5.
Mult Scler ; 20(8): 1086-94, 2014 07.
Artigo em Inglês | MEDLINE | ID: mdl-24323817

RESUMO

BACKGROUND: Few data are available for patients with a late onset (≥ 50 years) of neuromyelitis optica (LONMO) or neuromyelitis optica spectrum disease (LONMOSD), defined by an optic neuritis/longitudinally extensive transverse myelitis with aquaporin-4 antibodies (AQP4-Ab). OBJECTIVE: To characterize LONMO and LONMOSD, and to analyze their predictive factors of disability and death. METHODS: We identified 430 patients from four cohorts of NMO/NMOSD in France, Germany, Turkey and UK. We extracted the late onset patients and analyzed them for predictive factors of disability and death, using the Cox proportional model. RESULTS: We followed up on 63 patients with LONMO and 45 with LONMOSD during a mean of 4.6 years. This LONMO/LONMOSD cohort was mainly of Caucasian origin (93%), women (80%), seropositive for AQP4-Ab (85%) and from 50 to 82.5 years of age at onset. No progressive course was noted. At last follow-up, the median Expanded Disability Status Scale (EDSS) scores were 5.5 and 6 in the LONMO and LONMOSD groups, respectively. Outcome was mainly characterized by motor disability and relatively good visual function. At last follow-up, 14 patients had died, including seven (50%) due to acute myelitis and six (43%) because of opportunistic infections. The EDSS 4 score was independently predicted by an older age at onset, as a continuous variable after 50 years of age. Death was predicted by two independent factors: an older age at onset and a high annualized relapse rate. CONCLUSION: LONMO/LONMOSD is particularly severe, with a high rate of motor impairment and death.


Assuntos
Atividade Motora , Neuromielite Óptica/diagnóstico , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Aquaporina 4/imunologia , Autoanticorpos/sangue , Biomarcadores/sangue , Causas de Morte , Distribuição de Qui-Quadrado , Avaliação da Deficiência , Progressão da Doença , Europa (Continente)/epidemiologia , Feminino , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Neuromielite Óptica/imunologia , Neuromielite Óptica/mortalidade , Neuromielite Óptica/fisiopatologia , Valor Preditivo dos Testes , Prognóstico , Modelos de Riscos Proporcionais , Estudos Retrospectivos , Fatores de Risco , Índice de Gravidade de Doença , Fatores de Tempo
6.
Ann Hum Biol ; 41(5): 395-402, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24279476

RESUMO

BACKGROUND: Adolescence represents a transitional period which is marked by physical, social and psychological changes. Changes in body shape and physical activity especially alter and shape the psychological well-being of adolescents. AIM: The purpose of this study was to determine the role of physical activity level, body mass index and maturity status in body-related perception and self-esteem of 11-18 years old adolescents. SUBJECTS AND METHODS: A total of 1012 adolescents participated in this study. The "Social Physique Anxiety Scale", "Body Image Satisfaction Scale", "Physical Self-Perception Profile for Children" and "Rosenberg Self-Esteem Inventory" were administered. Physical activity level and body mass index were assessed using the "Physical Activity Questionnaire" and "Bioelectrical Impedance Analyzer", respectively. RESULTS: Regression analysis indicated that body mass index was the only predictor of perceived body attractiveness, social physique anxiety, body image satisfaction and self-esteem for female adolescents. For male adolescents, both physical activity and body mass index were correlated with perceived body attractiveness and social physique anxiety. Pubertal status were not correlated with self-esteem and body-related perceptions for both males and females adolescents. CONCLUSION: In summary, body mass index and physical activity plays an important role in body-related perceptions and self-esteem of adolescents.


Assuntos
Imagem Corporal , Índice de Massa Corporal , Atividade Motora , Autoimagem , Maturidade Sexual , Adolescente , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Inquéritos e Questionários , Turquia
7.
Eur J Gynaecol Oncol ; 35(6): 646-54, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25556269

RESUMO

OBJECTIVE: Uterine sarcomas (US) are rare, malignant, and aggressive tumors of the uterus. In this study the authors aimed to evalu- ate retrospectively the clinical and pathologic features and to investigate the prognostic factors of the U.S. patients who were treated in their department in the last 20 years. MATERIALS AND METHODS: The archive files, medical, and pathological records of the 132 US patients who were operated on and regularly followed up in the clinic between March 1991-March 2011 were reviewed. Clinical features, operation characteristics, pathological findings, adjuvant therapies, and follow-up data of the patients and their effects on survival were investigated. Analysis of disease-free survival (DFS) and overall survival (OS) were calculated using Kaplan-Meier and Cox regression tests. Thep value was taken <0.05 to maintain the statistical significance level for all results. Results: Seventy of the patients were diagnosed with leiomyosarcomas (LMS), 33 were with carcinosarcomas, 12 were with endometrial stromal sarcomas (ESS), nine were with undifferentiated endometrial sarcomas, five were with adenosarcomas, and three were with botryoid rhabdomyosarcomas. The average patients' age was 53.7 +/- 12.6 (17-78). About two-thirds of the patients were in postmenopausal and one-third were in pre- menopausal period. Vaginal bleeding was detected as the most common reason for patients' admission (68.9%). All cases underwent surgery and a procedure of total abdominal hysterectomy + bilateral salpingo-oophorectomy (TAH + BSO) was performed for most of them (88%). The mean duration of follow-up was 36 months (4-198). The two- and five-year OS rates were 65% and 36%, respectively, with a median time of 37 months (95% CI, 28-45). The two- and five-year DFS rates were 59% and 33%, respectively, with a median time of 29 months (95% CI, 18-40). CONCLUSION: As a result of multivariate analysis, while age, stage, lymphovascular space invasion (LVSI), and lymphadenectomy were found to be independent prognostic factors affecting DFS, only stage was detected as an independent prognostic factor for OS.


Assuntos
Sarcoma/patologia , Neoplasias Uterinas/patologia , Adolescente , Adulto , Idoso , Intervalo Livre de Doença , Feminino , Humanos , Excisão de Linfonodo , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/epidemiologia , Sarcoma/mortalidade , Sarcoma/cirurgia , Neoplasias Uterinas/mortalidade , Neoplasias Uterinas/cirurgia
8.
Nat Genet ; 25(4): 397-401, 2000 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-10932181

RESUMO

Isolated human microphthalmia/anophthalmia, a cause of congenital blindness, is a clinically and genetically heterogeneous developmental disorder characterized by a small eye and other ocular abnormalities. Three microphthalmia/anophthalmia loci have been identified, and two others have been inferred by the co-segregation of translocations with the phenotype. We previously found that mice with ocular retardation (the or-J allele), a microphthalmia phenotype, have a null mutation in the retinal homeobox gene Chx10 (refs 7,8). We report here the mapping of a human microphthalmia locus on chromosome 14q24.3, the cloning of CHX10 at this locus and the identification of recessive CHX10 mutations in two families with non-syndromic microphthalmia (MIM 251600), cataracts and severe abnormalities of the iris. In affected individuals, a highly conserved arginine residue in the DNA-recognition helix of the homeodomain is replaced by glutamine or proline (R200Q and R200P, respectively). Identification of the CHX10 consensus DNA-binding sequence (TAATTAGC) allowed us to demonstrate that both mutations severely disrupt CHX10 function. Human CHX10 is expressed in progenitor cells of the developing neuroretina and in the inner nuclear layer of the mature retina. The strong conservation in vertebrates of the CHX10 sequence, pattern of expression and loss-of-function phenotypes demonstrates the evolutionary importance of the genetic network through which this gene regulates eye development.


Assuntos
Proteínas de Homeodomínio/genética , Microftalmia/genética , Fatores de Transcrição/genética , Adulto , Mapeamento Cromossômico , Cromossomos Humanos Par 14/genética , Análise Mutacional de DNA , Éxons , Saúde da Família , Evolução Fatal , Feminino , Regulação da Expressão Gênica no Desenvolvimento , Genes/genética , Genes Homeobox/genética , Humanos , Lactente , Íntrons , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Retina/crescimento & desenvolvimento , Retina/metabolismo
9.
Mult Scler ; 18(10): 1448-53, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22419670

RESUMO

BACKGROUND: Demyelinating lesions over 20 mm in size, referred to as tumefactive demyelinating lesions, can be misdiagnosed as being either a tumor or an abscess. Although some radiological characteristics can help make a differential diagnosis easier, a cerebral biopsy may still be necessary. OBJECTIVE: Our objective was to assess the clinical characteristics of tumefactive lesions, with or without a diagnosis of multiple sclerosis (MS), and present follow-up data for 54 patients with tumefactive lesions. METHODS: Demographic, clinical, radiological and laboratory data were gathered and treatment responses were evaluated in a total of 54 patients from five medical centers. RESULT: Twenty-nine patients were diagnosed with tumefactive lesions at the onset, whereas 25 patients were diagnosed with tumefactive lesions after a diagnosis of MS. Median follow-up was 38.12 months. At final examination, 19 of the patients with a tumefactive lesion diagnosis at the onset eventually developed relapsing-remitting MS, while 10 remained with the condition as a clinically isolated syndrome. The tumefactive lesions studied were mostly focal, with closed-ring enhancement. We found that oligoclonal band positivity was less frequent in the patients with tumefactive onset. CONCLUSION: Although our demographic data were similar to formerly collected Turkish MS data, we found that the distribution of the patients' clinical course differed if there was an absence of primary progressive MS and that there was a lower frequency of secondary progressive MS cases in our group of patients. We believe that less frequent oligoclonal band positivity and the difference we witnessed in the clinical course of disease in our study groups suggest that there is a need for further studies to compare all the biological and immunological differences between MS and tumefactive lesion cases, in order to reveal whether there are different pathogenetic mechanisms involved.


Assuntos
Doenças Desmielinizantes/diagnóstico , Esclerose Múltipla/diagnóstico , Adolescente , Adulto , Encéfalo/patologia , Abscesso Encefálico/diagnóstico , Neoplasias Encefálicas/diagnóstico , Doenças Desmielinizantes/imunologia , Diagnóstico Diferencial , Progressão da Doença , Feminino , Seguimentos , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/imunologia , Bandas Oligoclonais , Estudos Retrospectivos , Adulto Jovem
10.
Eur J Gynaecol Oncol ; 33(5): 493-7, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23185795

RESUMO

OBJECTIVE: To evaluate the clinicopathologic characteristics, methods for preoperative evaluation, prognostic factors, and overall survival of nongenital ovarian metastases (NGOM). MATERIAL AND METHODS: Forty-eight patients with NGOM followed between January 2001 and January 2009 in Cukurova University Department of Gynecologic Oncology were included in the study. Clinical characteristics including demographics, preoperative imaging methods, endoscopic evaluations, tumor markers, histopathologic findings, prognostic factors, types of surgery, modalities for adjuvant therapy and survival were analyzed. RESULTS: The gastrointestinal tract is the most common location of the primary tumor; colonic origin was found in 41% of the patients (n = 20). All metastatic lesions were adenocarcinoma with 23% of these classified as Krukenberg and 29% as mucinous type adenocarcinoma. When the whole group was evaluated, median survival time was 15.7 months in patients and there were significant differences between the groups according to primary site. Histopathological subtypes and presence of peritoneal carcinomatosis affected the median survival. The significant prognostic factors were primary site and histopathologic subtypes of the NGOM. CONCLUSIONS: NGOM should be kept in mind to avoid inappropriate management and therapy in patients with surgically managed ovarian tumor, especially young patients with gastrointestinal complaints.


Assuntos
Neoplasias Ovarianas/patologia , Adulto , Feminino , Humanos , Pessoa de Meia-Idade , Metástase Neoplásica , Neoplasias Ovarianas/mortalidade , Neoplasias Ovarianas/cirurgia , Prognóstico
11.
Dig Dis Sci ; 56(3): 721-30, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-20658190

RESUMO

BACKGROUND: The pathogenesis and treatment of ulcerative colitis remain poorly understood. The aim of the present study is to investigate the effects of black cumin (Nigella sativa) oil on rats with colitis. METHODS: Experimental colitis was induced with 1 mL trinitrobenzene sulfonic acid (TNBS) in 40% ethanol by intracolonic administration with 8-cm-long cannula under ether anesthesia to rats in colitis group and colitis + black cumin oil group. Rats in the control group were given saline at the same volume by intracolonic administration. Black cumin oil (BCO, Origo "100% natural Black Cumin Seed Oil," Turkey) was given to colitis + black cumin oil group by oral administration during 3 days, 5 min after colitis induction. Saline was given to control and colitis groups at the same volume by oral administration. At the end of the experiment, macroscopic lesions were scored and the degree of oxidant damage was evaluated by colonic total protein, sialic acid, malondialdehyde, and glutathione levels, collagen content, and tissue factor, superoxide dismutase, and myeloperoxidase activities. Tissues were also examined by histological and cytological analysis. Proinflammatory cytokines [tumor necrosis factor-alpha (TNF-α), interleukin (IL)-1ß, and IL-6], lactate dehydrogenase activity, and triglyceride and cholesterol levels were analyzed in blood samples. RESULTS: We found that black cumin oil decreased the proinflammatory cytokines, lactate dehydrogenase, triglyceride, and cholesterol, which were increased in colitis. CONCLUSIONS: BCO, by preventing inflammatory status in the blood, partly protected colonic tissue against experimental ulcerative colitis.


Assuntos
Colite Ulcerativa/tratamento farmacológico , Nigella sativa , Óleos de Plantas/uso terapêutico , Animais , Colesterol/sangue , Colite Ulcerativa/induzido quimicamente , Colite Ulcerativa/patologia , Colo/efeitos dos fármacos , Colo/metabolismo , Citocinas/sangue , Modelos Animais de Doenças , Feminino , L-Lactato Desidrogenase/sangue , Masculino , Malondialdeído/sangue , Estresse Oxidativo/efeitos dos fármacos , Ratos , Ratos Wistar , Resultado do Tratamento , Triglicerídeos/sangue , Ácido Trinitrobenzenossulfônico/toxicidade
12.
J Digit Imaging ; 23(4): 475-81, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19513794

RESUMO

Reflectance-mode confocal laser scanning microscopy allows in vivo imaging of the human skin. We hypothesized that this high-resolution technique enables observation of dynamic changes of the cutaneous microcirculation. Twenty-two volunteers were randomly divided in two groups. Group 1 was exposed to local heating and group 2 to local cold stress. Confocal microscopy was performed prior t (0) (control), directly t (1) and 5 min t (2) after local temperature changes to evaluate quantitative blood cell flow, capillary loop diameter, and density of dermal capillaries. In group 1, blood flow increased at t (1) (75.82 +/- 2.86/min) and further at t (2) (84.09 +/- 3.39/min) compared to the control (61.09 +/- 3.21/min). The control capillary size was 9.59 +/- 0.25 microm, increased to 11.16 +/- 0.21 microm (t (1)) and 11.57 +/- 0.24 microm (t (2)). The dermal capillary density increased in t (1) (7.26 +/- 0.76/mm(2)) and t (2) (8.16 +/- 0.52/mm(2)), compared to the control (7.04 +/- 0.62/mm(2)). In group 2, blood flow decreased at t (1) (41.73 +/- 2.61/min) and increased at t (2) (83.27 +/- 3.29/min) compared to the control (60.73 +/- 2.90/min). The control capillary size was 9.55 +/- 0.25 microm, decreased at t (1) (7.78 +/- 0.26 microm) and increased at t (2) (11.38 +/- 0.26 microm). Capillary density decreased at t (1) (5.01 +/- 0.49/mm(2)) and increased at t (2) (7.28 +/- 0.53/mm(2)) compared to the control (7.01 +/- 0.52/mm(2)). Confocal microscopy is a sensitive and noninvasive imaging tool for characterizing and quantifying dynamic changes of cutaneous microcirculation on a histomorphological level.


Assuntos
Interpretação de Imagem Assistida por Computador , Microcirculação/fisiologia , Microscopia Confocal/métodos , Pele/irrigação sanguínea , Pele/ultraestrutura , Adulto , Capilares/ultraestrutura , Diagnóstico por Imagem/métodos , Feminino , Humanos , Masculino , Microscopia Confocal/instrumentação , Valores de Referência , Fluxo Sanguíneo Regional , Sensibilidade e Especificidade , Adulto Jovem
13.
J Neurol ; 267(12): 3565-3577, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32623595

RESUMO

INTRODUCTION: While monophasic and relapsing forms of myelin oligodendrocyte glycoprotein antibody associated disorders (MOGAD) are increasingly diagnosed world-wide, consensus on management is yet to be developed. OBJECTIVE: To survey the current global clinical practice of clinicians treating MOGAD. METHOD: Neurologists worldwide with expertise in treating MOGAD participated in an online survey (February-April 2019). RESULTS: Fifty-two responses were received (response rate 60.5%) from 86 invited experts, comprising adult (78.8%, 41/52) and paediatric (21.2%, 11/52) neurologists in 22 countries. All treat acute attacks with high dose corticosteroids. If recovery is incomplete, 71.2% (37/52) proceed next to plasma exchange (PE). 45.5% (5/11) of paediatric neurologists use IV immunoglobulin (IVIg) in preference to PE. Following an acute attack, 55.8% (29/52) of respondents typically continue corticosteroids for ≥ 3 months; though less commonly when treating children. After an index event, 60% (31/51) usually start steroid-sparing maintenance therapy (MT); after ≥ 2 attacks 92.3% (48/52) would start MT. Repeat MOG antibody status is used by 52.9% (27/51) to help decide on MT initiation. Commonly used first line MTs in adults are azathioprine (30.8%, 16/52), mycophenolate mofetil (25.0%, 13/52) and rituximab (17.3%, 9/52). In children, IVIg is the preferred first line MT (54.5%; 6/11). Treatment response is monitored by MRI (53.8%; 28/52), optical coherence tomography (23.1%; 12/52) and MOG antibody titres (36.5%; 19/52). Regardless of monitoring results, 25.0% (13/52) would not stop MT. CONCLUSION: Current treatment of MOGAD is highly variable, indicating a need for consensus-based treatment guidelines, while awaiting definitive clinical trials.


Assuntos
Autoanticorpos , Imunoglobulinas Intravenosas , Adulto , Criança , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Glicoproteína Mielina-Oligodendrócito , Plasmaferese , Inquéritos e Questionários
14.
Brain ; 131(Pt 7): 1759-75, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18535080

RESUMO

Atypical imaging features of multiple sclerosis lesions include size >2 cm, mass effect, oedema and/or ring enhancement. This constellation is often referred to as 'tumefactive multiple sclerosis'. Previous series emphasize their unifocal and clinically isolated nature, however, evolution of these lesions is not well defined. Biopsy may be required for diagnosis. We describe clinical and radiographic features in 168 patients with biopsy confirmed CNS inflammatory demyelinating disease (IDD). Lesions were analysed on pre- and post-biopsy magnetic resonance imaging (MRI) for location, size, mass effect/oedema, enhancement, multifocality and fulfilment of Barkhof criteria. Clinical data were correlated to MRI. Female to male ratio was 1.2 : 1, median age at onset, 37 years, duration between symptom onset and biopsy, 7.1 weeks and total disease duration, 3.9 years. Clinical course prior to biopsy was a first neurological event in 61%, relapsing-remitting in 29% and progressive in 4%. Presentations were typically polysymptomatic, with motor, cognitive and sensory symptoms predominating. Aphasia, agnosia, seizures and visual field defects were observed. At follow-up, 70% developed definite multiple sclerosis, and 14% had an isolated demyelinating syndrome. Median time to second attack was 4.8 years, and median EDSS at follow-up was 3.0. Multiple lesions were present in 70% on pre-biopsy MRI, and in 83% by last MRI, with Barkhof criteria fulfilled in 46% prior to biopsy and 55% by follow-up. Only 17% of cases remained unifocal. Median largest lesion size on T2-weighted images was 4 cm (range 0.5-12), with a discernible size of 2.1 cm (range 0.5-7.5). Biopsied lesions demonstrated mass effect in 45% and oedema in 77%. A strong association was found between lesion size, and presence of mass effect and/or oedema (P < 0.001). Ring enhancement was frequent. Most tumefactive features did not correlate with gender, course or diagnosis. Although lesion size >5 cm was associated with a slightly higher EDSS at last follow-up, long-term prognosis in patients with disease duration >10 years was better (EDSS 1.5) compared with a population-based multiple sclerosis cohort matched for disease duration (EDSS 3.5; P < 0.001). Given the retrospective nature of the study, the precise reason for biopsy could not always be determined. This study underscores the diagnostically challenging nature of CNS IDDs that present with atypical clinical or radiographic features. Most have multifocal disease at onset, and develop RRMS by follow-up. Although increased awareness of this broad spectrum may obviate need for biopsy in many circumstances, an important role for diagnostic brain biopsy may be required in some cases.


Assuntos
Esclerose Múltipla/diagnóstico , Adolescente , Adulto , Idoso , Biópsia , Encéfalo/patologia , Edema Encefálico/etiologia , Edema Encefálico/patologia , Criança , Progressão da Doença , Métodos Epidemiológicos , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/complicações , Esclerose Múltipla/patologia
15.
J Eur Acad Dermatol Venereol ; 23(12): 1389-93, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19496895

RESUMO

BACKGROUND: Regardless of the underlying cause, both sunburn and superficial thermal injuries are classified as first-degree burns, since data on morphological differences are scarce. Reflectance-Mode-Confocal Microscopy (RMCM) enables high-resolution non-invasive investigation of the human skin. OBJECTIVE: We studied in vivo histomorphological alterations in both sunburn and superficial thermal injuries using RMCM. METHODS: Ten patients (6 female, 4 male; aged 28.4 +/- 10.6 years) with first-degree thermal-contact Injuries (TI group), and 9 sunburned patients (SB group; 7 female, 2 male; aged 30.2 +/- 16.4 years), to a maximum extent of 10% of the body surface were evaluated 24 h after burn injury using RMCM. The following parameters were obtained using RMCM: stratum corneum thickness, epidermal thickness, basal layer thickness, granular cell size. RESULTS: Compared to the controls (12.8 +/- 2.5 microm), stratum corneum thickness decreased significantly to 10.6 +/- 2.1 microm in the TI group, whereas it increased significantly to 16.4 +/- 3.1 microm in the SB group. The epidermal thickness did not differ significantly in the TI group (47.9 +/- 2.3 microm) and SB group (49.1 +/- 3.5 microm); however, both increased significantly compared to their respective controls (41.8 +/- 1.4 microm). The basal layer thickness increased more in the SB group compared to the TI group (17.9 +/- 1.4 microm vs. 15.6 +/- 1.1 microm). Both differed also significantly compared to their controls (13.8 +/- 0.9 microm). The granular cell size increased significantly in both groups compared to the controls (731 +/- 42 microm); however, a significantly higher increase was observed in the TI group (852 +/- 58 microm) compared to the SB group (784 +/- 61 microm). CONCLUSIONS: Ultraviolet radiation seems to influence predominantly deeper epidermal layers, whereas heat-induced burns affect more superficial epidermal layers. The term 'First-degree burn' should not be used synonymously for sunburn and superficial thermal burn injuries. Conflicts of interest None declared.


Assuntos
Queimaduras/fisiopatologia , Temperatura Alta , Microscopia Confocal/métodos , Queimadura Solar/fisiopatologia , Adulto , Feminino , Humanos , Masculino
16.
Genet Couns ; 20(2): 147-52, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19650412

RESUMO

Classical neonatal diabetes mellitus is defined as hyperglycemia that occurs within the first month of life in term infants. It can be either permanent or transient. Cerebellar agenesis and permanent neonatal diabetes has been previously reported as a new autosomal recessive disorder. Pancreas Transcription Factor 1 Alpha (PTF1A) mutations have been related with this constellation of abnormalities. Here we report a new case of cerebellar agenesis and neonatal diabetes mellitus whose parents are PTF1A mutation carriers.


Assuntos
Cerebelo/anormalidades , Análise Mutacional de DNA , Diabetes Mellitus Tipo 1/genética , Fatores de Transcrição/genética , Cerebelo/parasitologia , Consanguinidade , Cordocentese , Diabetes Mellitus Tipo 1/diagnóstico , Retardo do Crescimento Fetal/genética , Mutação da Fase de Leitura , Triagem de Portadores Genéticos , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Linhagem , Síndrome do Desconforto Respiratório do Recém-Nascido/diagnóstico , Síndrome do Desconforto Respiratório do Recém-Nascido/genética
17.
J Hand Surg Am ; 34(3): 474-8, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19258145

RESUMO

PURPOSE: Radial nerve damage results in substantial functional limitations of the upper extremity. No detailed data exist regarding long-term results, patient satisfaction, and professional and social reintegration after tendon transfer for irreparable damage to the radial nerve. In this retrospective study, we investigated these data through the Disabilities of the Arm, Shoulder, and Hand (DASH) questionnaire. METHODS: Between 1995 and 2006, 77 patients underwent a modified Brooks and d'Aubigne surgical technique for radial nerve palsy in our department. In 19 cases, the flexor carpi radialis muscle was used as a donor instead of the flexor carpi ulnaris muscle. The mean follow-up period was 60 months (range, 24-150 months); motion of the wrist and finger joints and pinch-grip power were compared with the healthy side. We assessed the limitation in pursuing daily activities using the DASH score. RESULTS: Wrist extension averaged 73% of the contralateral side, whereas the value for movement of digital extension was 32% and for thumb abduction in the palmar direction it was 80%. The power grip was reduced to 49% and the pinch grip was reduced to 28%. The mean DASH score was 15 +/- 9, the symptom score mean was 15 +/- 7, and the working score mean was 12 +/- 10. The mean total DASH score was 16 +/- 10. The proportion of patients who remained employed after surgical treatment was 89%. CONCLUSIONS: Functional results, adequate patient satisfaction, and sufficient professional and social reintegration can be achieved after modified Brooks and d'Aubigne tendon transfer. Accordingly, the tendon transfer offers an important alternative-possibly the procedure of choice-to microsurgical nerve reconstruction, particularly when early professional and social reintegration is important.


Assuntos
Avaliação da Deficiência , Neuropatia Radial/cirurgia , Transferência Tendinosa/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Emprego , Feminino , Articulações dos Dedos/fisiologia , Seguimentos , Força da Mão , Humanos , Masculino , Pessoa de Meia-Idade , Satisfação do Paciente , Amplitude de Movimento Articular , Estudos Retrospectivos , Articulação do Punho/fisiologia
18.
Eur J Ophthalmol ; 18(1): 128-30, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18203098

RESUMO

PURPOSE: Evaluation of a patient with necrotizing fasciitis of the eyelid spreading from parotid gland. METHODS: Interventional case report. The patient admitted with rapidly progressive swelling, redness, and pain of four eyelids, and whole face. Pathogenic microorganism was searched, laboratory tests were evaluated. Intensive medical treatment and necrotic wound debridement was performed. RESULTS: The patient had been receiving oral cephalosporin at the time she was referred to our hospital, but her infection had spread rapidly under this treatment. In addition to her eyelid necrosis, septic shock developed within 24 hours. No pathogenic microorganism was detected in cultures. The patient responded to intravenous sulbactam ampicillin, surgical debridement of necrotic wound and supportive medical care. Moderate ptosis was the only complication observed in this patient. Reconstructive surgery was not needed. CONCLUSIONS: With prompt antibiotic treatment and surgical debridement, cosmetic and functional success may be obtained in necrotizing fasciitis cases rarely seen with parotid gland origin.


Assuntos
Doenças Palpebrais/etiologia , Fasciite Necrosante/etiologia , Parotidite/complicações , Idoso , Ampicilina/uso terapêutico , Antibacterianos/uso terapêutico , Terapia Combinada , Desbridamento , Doenças Palpebrais/diagnóstico por imagem , Doenças Palpebrais/terapia , Fasciite Necrosante/diagnóstico por imagem , Fasciite Necrosante/terapia , Feminino , Humanos , Infusões Intravenosas , Parotidite/diagnóstico por imagem , Parotidite/terapia , Sulbactam/uso terapêutico , Tomografia Computadorizada por Raios X
19.
Minerva Med ; 99(1): 7-14, 2008 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-18299692

RESUMO

AIM: There is an increased risk of lymphoma subsequent to autoimmune conditions. Autoimmune disorders may occur in the course of lymphomas. In this study, the association of autoimmunity and related autoantibodies within non-Hodgkin's (NHL) and Hodgkin's lymphoma (HL) patients has been investigated. METHODS: The study enrolled 119 patients affected by NHL and 60 patients affected by HL for the presence of autoantibodies and autoimmune diseases. Afterwards, the results between the two lymphoma groups have been confronted. RESULTS: Autoimmune diseases were diagnosed in eight (6.7%) patients with NHL and three patients with HL (5%) (P=0.651). Thirty-four (28.5%) patients with NHL and 14 (23.3%) patients with HL displayed autoantibody positivity (P=0.083). As regards HL cases, antinuclear antibodies (ANA) were detected in 12 (20%) and anti PM-Scl in two patients (3.3%). None the patients had anti Jo-1, anti Scl-70, anti Sm, anti nRNP/Sm, anti single-stranded DNA (anti-ssDNA), anti double-stranded DNA (anti-dsDNA), antihistones, antinucleosomes, anti SS-A, anti SS-B or anti CENP-B autoantibodies. In patients affected by NHL ANA was detected in 16 (13.4%), anti SS-A and anti SS-B in two (1.7%), anti CENP-B in eight (6.7%) and anti PM-Scl in eight patients (6.7%). None of the patients had anti Jo-1, anti Scl-70, anti Sm, anti nRNP/Sm, anti ssDNA, antihistones or antinucleosome antibodies. There was a statistically significant difference between patients with HL and NHL in terms of anti CENP-B positivity (P=0.040). CONCLUSION: In conclusion, ANA and related autoantibodies can frequently be detected during lymphoma treatment. However, the majority of lymphoma patients with positive ANA did not display autoimmune diseases, demonstrating the lack of a strict correlation between the presence of ANA and autoimmune diseases.


Assuntos
Anticorpos Antinucleares/sangue , Doenças Autoimunes/diagnóstico , Doença de Hodgkin/imunologia , Linfoma não Hodgkin/imunologia , Adolescente , Adulto , Idoso , Autoantígenos/imunologia , Biomarcadores/sangue , DNA Topoisomerases Tipo I , Exorribonucleases , Complexo Multienzimático de Ribonucleases do Exossomo , Feminino , Doença de Hodgkin/patologia , Humanos , Linfoma não Hodgkin/patologia , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Proteínas Nucleares/imunologia , Ribonucleoproteínas Nucleares Pequenas/imunologia , Proteínas Centrais de snRNP
20.
Eur J Ophthalmol ; 17(1): 38-44, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17294381

RESUMO

PURPOSE: To evaluate the effect of topical dorzolamide on postoperative intraocular pressure (IOP) after routine phacoemulsification surgery with different type of ophthalmic viscosurgical device (OVD). METHODS: Patients who were scheduled for phacoemulsification with intraocular lens (IOL) implantation were evenly divided into four groups. Group I (83 eyes) received one drop of topical dorzolamide immediately after surgery and 1.4% NaHa (BD Visc) was used as a cohesive OVD during IOL implantation. Group II (83 eyes) did not receive any topical antiglaucoma medication after operation and 1.4% NaHa was used as a cohesive OVD. Group III (83 eyes) received topical dorzolamide and 1% NaHa (Healon) was used, and Group IV (83 eyes) did not receive any topical and 1% NaHa was used in operation. Mean postoperative IOPs were compared between groups. RESULTS: Eyes with 1.4% NaHa usage (18.2+/-9.2 mmHg) had higher mean postoperative IOPs than eyes with 1% NaHa usage (15.5+/-5.3 mmHg) (p=0.002). Mean postoperative IOPs were lower in eyes with dorzolamide application (15.6+/-7.2 mmHg) than in eyes without any medication (18.1+/-8.5 mmHg) both in eyes with 1.4% NaHa and 1% NaHa usage (p=0.003). Dorzolamide application caused an average 2.5 mm decrease in mean postoperative IOPs in both groups. CONCLUSIONS: Effects of OVDs on IOP rises after phacoemulsification surgery are closely related to their molecular structure. Increase in viscosity rendered higher postoperative IOP increments. However, topical dorzolamide application effectively reduced postoperative IOP increments in eyes with both Healon and BD Visc use.


Assuntos
Inibidores da Anidrase Carbônica/administração & dosagem , Ácido Hialurônico/uso terapêutico , Pressão Intraocular/efeitos dos fármacos , Hipertensão Ocular/prevenção & controle , Facoemulsificação , Complicações Pós-Operatórias , Sulfonamidas/administração & dosagem , Tiofenos/administração & dosagem , Administração Tópica , Idoso , Feminino , Humanos , Implante de Lente Intraocular , Masculino , Pessoa de Meia-Idade , Soluções Oftálmicas/administração & dosagem , Estudos Prospectivos , Tonometria Ocular
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