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1.
J Intellect Disabil Res ; 65(6): 577-588, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33739554

RESUMO

BACKGROUND: Aetiological diagnosis in non-syndromic intellectual disability (NSID) still poses a diagnostic challenge to clinicians. METHODS: Screening is currently achieved by chromosomal microarrays followed by whole-exome sequencing (WES). In search for the aetiological yield of WES in patients with NSID, 59 unrelated patients were studied. RESULTS: Among the 59 patients, 44 (74.6%) were from consanguineous unions. Epilepsy was present in 11 (37.9%), behavioural problems in 12 (41.4%) and autistic features in 14 (48.3%). WES analysis resulted in molecular diagnosis in 29 patients (49.2%). Some of the genes were specific for nervous system functioning, like HERC1, TBC1D7, LINS, HECW2, DEAF1, HNMT, DLG3, NRXN1 and HUWE1. Others were ubiquitously expressed genes involved in fundamental cellular processes, like IARS, UBE3A, COQ4, TAF1, SETBP1, ARV1, ZC4H2, KAT6A, ASXL3, THOC6, HNRNPH2, TUBA8 and KIF1A. Twenty-two (75.8%) were consanguineously married; however, only 12 (41.4%) of the detected genes caused autosomal recessive phenotypes. CONCLUSIONS: This cohort suggests that recessive genes probably represent an actually smaller subgroup of NSID, even among families with consanguinity. Although in societies with high consanguinity rates, considering the recessive inheritance first seems to be an advantageous strategy, de novo mutations in autosomal dominantly expressed genes represent the major aetiological group in patients with NSID, even among those patients from consanguineous families.


Assuntos
Deficiência Intelectual , Proteínas de Transporte , Consanguinidade , Proteínas de Ligação a DNA , Genes Recessivos , Humanos , Deficiência Intelectual/genética , Peptídeos e Proteínas de Sinalização Intracelular , Cinesinas , Proteínas de Membrana , Proteínas Nucleares , Fenótipo , Proteínas de Ligação a RNA , Fatores de Transcrição , Proteínas Supressoras de Tumor , Ubiquitina-Proteína Ligases , Sequenciamento do Exoma
2.
Niger J Clin Pract ; 21(7): 907-911, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29984724

RESUMO

AIM: Brucellosis is a highly contagious zoonotic infection affecting livestock and human beings. This study aimed to investigate the prevalence of Brucella in raw milk collected from a provincial center and central villages in the Central Anatolian region. MATERIALS AND METHODS: This cross-sectional study was completed between March and September of 2016. The sample size for research was calculated as 263 milk samples with the Epi Info 2000 program. Samples were tested with the milk ring test, Rose Bengal test, and standard Brucella tube agglutination test. Suspicious samples according to these tests were seeded on medium for observation. RESULTS: In this study, 202 cow's milk samples collected from 14 central villages were researched for the presence of Brucella abortus, a Brucella species bacterium. According to the medium seeding results, 35 of 202 raw cow's milk samples (17.32%) were identified as suspicious. CONCLUSION: The research investigated the prevalence of Brucella in milk samples collected from bovine farms used for consumption and production of raw milk products. The most significant infection route in our region is considered to be consumption of milk and milk products such as raw milk and fresh cheese. Especially in rural areas, households consuming their own produced milk are common. In regions with family-style milk and milk product production and consumption, interventional studies with the aim of improving knowledge, attitudes, and behavior related to zoonotic diseases should not be neglected.


Assuntos
Brucella abortus/isolamento & purificação , Brucelose/epidemiologia , Doenças Transmitidas por Alimentos/epidemiologia , Animais , Bovinos , Estudos Transversais , Feminino , Inocuidade dos Alimentos , Humanos , Leite , Prevalência , Turquia/epidemiologia
3.
Cardiology ; 130(2): 82-6, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25592683

RESUMO

OBJECTIVE: Osteopontin (OPN), a sialoprotein present within atherosclerotic lesions, especially in calcified plaques, is linked to the progression of coronary artery disease and heart failure. We assessed the impact of valve surgery on serum OPN and left ventricular (LV) function in patients with mitral regurgitation (MR). METHODS: Thirty-two patients with severe MR scheduled for surgery were included in the study. Echocardiography markers were assessed preoperatively and at 3 months following the surgery and matched with the serum OPN levels. RESULTS: Valve surgery was associated with a reduction of the ejection fraction (EF) from 55.2 ± 6.3 to 48.8 ± 7.1% after surgery, p < 0.001. Following surgery, the OPN level was significantly higher than preoperatively (mean 245, range 36-2,284 ng/ml vs. 76, 6-486 ng/ml, p = 0.007). Preoperative OPN exhibited a slight negative correlation with the EF (r = -0.35, p = 0.04), and a moderate correlation with vena contracta (r = -0.38, p = 0.02). There were no other meaningful correlations between conventional echocardiographic parameters and OPN. CONCLUSION: Following valve surgery due to severe MR, patients exhibited a decrease in EF and an increase in OPN levels. The assessment of preoperative OPN failed to strongly predict probable LV dysfunction.


Assuntos
Insuficiência da Valva Mitral/sangue , Insuficiência da Valva Mitral/cirurgia , Osteopontina/sangue , Biomarcadores/sangue , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valva Mitral/cirurgia , Período Pós-Operatório , Volume Sistólico , Função Ventricular Esquerda
4.
Herz ; 40 Suppl 3: 291-7, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25676008

RESUMO

AIMS: Low adiponectin and high lipoprotein(a) [Lp(a)] levels are associated with endothelial dysfunction, atherosclerosis, and coronary artery disease. Cardiac syndrome X (CSX) is characterized by anginal symptoms, positive stress test, and documentation of normal epicardial coronary arteries with angiography. In this study we aimed to investigate the relationship between CSX and circulating levels of adiponectin and Lp(a). PATIENTS AND METHODS: We enrolled 53 female patients with CSX and 33 patients as the control group. The diagnosis of CSX was made according to presence of angina, findings suggestive of ischemia during stress electrocardiography or myocardial perfusion scintigraphy, and documentation of normal coronary arteries in coronary angiography. The control group consisted of patients with atypical angina and normal stress electrocardiography test results. Both groups were matched in terms of hypertension, diabetes mellitus, and metabolic syndrome. RESULTS: Adiponectin levels were significantly decreased in patients with CSX (4.57 µg/ml vs. 13.18 µg/ml; p=0.001); however, Lp(a) levels were significantly increased (36.30 mg/dl vs. 7.24 mg/dl; p < 0.001). Low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and triglycerides (TG) concentrations did not differ between the case group and the control group (p=0.14, p=0.62, p=0.64, respectively). There was no significant difference between groups in terms of age, body mass index, waist circumference hypertension, hyperlipidemia, diabetes mellitus, or metabolic syndrome. In multivariate analysis, Lp(a) and adiponectin were found to be independent predictors of CSX. An Lp(a) level of > 21 mg/dl had 84 % sensitivity and 96 % specificity {area under the curve (AUC)= 0.922, p < 0.0001, 95 % CI [0.842-0.970]} and an adiponectin level of ≤ 5.18 µg/ml also had 58.7 % sensitivity and 82.1 % specificity (AUC=0.726, p=0.0003, 95 % CI [0.609-0.823]) for detecting CSX. CONCLUSION: We detected low adiponectin and high Lp(a) levels in patients with CSX and these findings may be related to the microvascular injury in CSX.


Assuntos
Adiponectina/sangue , Lipoproteína(a)/sangue , Angina Microvascular/sangue , Angina Microvascular/diagnóstico , Biomarcadores , Feminino , Humanos , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
5.
J Environ Biol ; 36 Spec No: 153-62, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26591895

RESUMO

The vascular flora alongside the railway track between Haydarpasa and Gebze in Turkey was investigated and the floristic features of the study area are presented here. The investigation was undertaken during 2003-2009. In total 194 plant taxa were determined. Out of these 174 were naturally growing and 20 were exotics and cultivated. Native taxa within the flora belonged to 135 genera and 50 families, exotic and cultivated taxa belonged to 20 genera and 15 families. The members of Dicotyledonae constituted of 82.76% and Monocotyledonae 16.09% of the native taxa. The highest number of these taxa belonged to Asteraceae family (25 species), while the exotics were from Rosaceae (5 species). The plant distributional features, phytogeographical elements, life forms, archaeophytes and neophytes and status of invasive plants have also been included.


Assuntos
Biodiversidade , Plantas/classificação , Demografia , Monitoramento Ambiental , Turquia
6.
Niger J Clin Pract ; 18(1): 52-5, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25511344

RESUMO

BACKGROUND: The Candida species, which are one of the most common causes of nosocomial bloodstream infections, present with high mortality and morbidity rates. This study aims to investigate the production of esterase, phospholipase, proteinase, and biofilm formation ability of the Candida strains isolated from the blood cultures. MATERIALS AND METHODS: Between June 2011 and July 2012, the Candida strains, which were isolated from blood cultures of a total of 50 patients, were studied. The esterase activity was analyzed in the Tween-80 agar, while phospholipase activity was studied in the egg yolk agar. The proteinase activity and biofilm formation were identified by using the petri dish method and microplate method, respectively. RESULTS: Of 50 specimens obtained from individual patients, 17 (34%) were identified as C. albicans, 14 (28%) as C. glabrata, 9 (18%) as C. parapsilosis, 5 (10%) as C. krusei, 4 (8%) as C. kefyr, and 1 (2%) as C. tropicalis. The rate of proteinase, phospholipase, and esterase positivity was higher in the C. albicans isolates. Biofilm formation was the highest in the C. parapsilosis strains. CONCLUSIONS: Higher rate of virulence factors in the most commonly isolated Candida species than other species indicates that these virulence factors play a crucial role in the pathogenesis.


Assuntos
Biofilmes/crescimento & desenvolvimento , Candida/patogenicidade , Candidemia/microbiologia , Infecção Hospitalar/microbiologia , Esterases/metabolismo , Peptídeo Hidrolases/metabolismo , Fosfolipases/metabolismo , Fatores de Virulência/metabolismo , Candida/isolamento & purificação , Candida/fisiologia , Candida albicans , Candida glabrata , Candida tropicalis , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
7.
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
9.
J Postgrad Med ; 60(3): 260-4, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25121364

RESUMO

BACKGROUND: High-density lipoprotein cholesterol (HDL-C) levels are inversely related to the atherosclerotic burden and are higher in women than in men. We aimed to investigate the sex-specific relationship between serum HDL-C levels and the Duke treadmill score (DTS) in this study. MATERIALS AND METHODS: A total of 111 patients (59 men, 42 women) with suspected coronary artery disease (CAD) who underwent exercise treadmill test (EST) were included. Fasting blood samples were obtained for the assessment of serum lipid levels. DTS was calculated for each patient based on EST findings including ST segment deviation and symptoms. RESULTS: Patients were categorized into a moderate to high risk group based on the DTS score (group-I: 38 patients) and a low risk group (group-II: 63 patients). There was a significant positive correlation between serum HDL-C levels and DTS (r = 0.230; P=0.021). The mean HDL-C level was significantly higher in group-II relative to group-I (49.25 ±11.21 vs. 44.43 ± 11.18, respectively, P = 0.04). An HDL-C level less than the cut-off value of 41.39 mg/dL predicted a moderate to severe risk DTS with 65% sensitivity and 69% specificity in men (area under curve = 0.732, P = 0.004), but not in women (area under curve = 0.505, P = 0.958). After adjustment for traditional CAD risk factors (age, sex, and smoking status), the relationship of DTS to HDL-C remained significant. (P = 0.030; adjusted OR = 0.948 [95% CI, 0.904-0.995]). CONCLUSION: Low HDL-C levels may be associated with a moderate to high risk Duke treadmill score in men, but not in women. Further research is required to clarify the sex-specific relationship between HDL-C and DTS.


Assuntos
HDL-Colesterol/sangue , Doença da Artéria Coronariana/diagnóstico , Teste de Esforço , Adulto , Idoso , Angiografia Coronária , Doença da Artéria Coronariana/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Fatores de Risco , Sensibilidade e Especificidade
10.
Anaesthesist ; 63(10): 760-5, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25098777

RESUMO

OBJECTIVES: To assess the adequacy of different amounts of local anesthetics (LA) in infraclavicular blockade (ICB) under ultrasonographic (US) guidance and neurostimulation and compare them to the conventional doses under neurostimulation (NS). MATERIAL AND METHODS: In this study 100 patients scheduled for upper limb surgery and suitable for ICB were randomly allocated to 1 of 5 groups: group NS (NS alone group 0.5 ml/kg LA), group FD (full-dose US group 0.5 ml/kg LA), group 30 (30% reduced dose LA 0.35 ml/kg), group 50 (0.25 ml/kg LA) and group 70 (0.15 ml/kg LA). The ICB was performed under US in conjunction with NS in all groups except group NS in which neurostimulation was used alone. When necessary local anesthetic supplementation to the operation site was administered during surgery and propofol infusion for sedation ensued. Evaluation of sensory and motor block was performed for each terminal nerve (i.e. radial, ulnar, median and musculocutaneous nerves). Block quality (assessing the need for rescue LA and propofol sedation) and duration of the block were documented. RESULTS: None of the patients in the FD and 30 groups required any supplementation or sedation, whereas LA supplementation rates were 5% in group 50 and 10% in groups 70 and NS. The propofol sedation rates were 20% in group NS, 25% in group 50 and 40% in group 70. Sensory block was significantly better in groups FD, 30 and NS at 30 min. A complete block was achieved more rapidly in all nerve territories in the full-dose group (p = 0.0001). Block duration was longest in group FD and was significantly longer in group 30 than in the other two groups (p = 0.0001). CONCLUSION: The results show that US guidance is more effective in maintenance of successful ICB than neurostimulation guidance alone and a reduction of LA doses even to 70% of conventionally used doses seems possible with US guidance. This article is published in English.


Assuntos
Anestésicos Locais/administração & dosagem , Plexo Braquial/diagnóstico por imagem , Bloqueio Nervoso/métodos , Ultrassonografia de Intervenção/métodos , Adulto , Idoso , Sedação Consciente , Estimulação Elétrica , Feminino , Humanos , Hipnóticos e Sedativos , Masculino , Midazolam , Pessoa de Meia-Idade , Propofol
11.
Eur J Neurol ; 20(5): 781-7, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23279782

RESUMO

BACKGROUND AND PURPOSE: Neuromyelitis optica (NMO) is a severe demyelinating inflammatory disorder associated with serum antibodies against aquaporin 4 (AQP4-Ab). A significant number of patients with NMO remain seronegative over time. Long-term observational magnetic resonance imaging (MRI) studies of the CNS in patients with NMO are rare or of limited duration. The objective of this study is to determine long-term MRI characteristics of seropositive and seronegative patients, and assess possible overlap with multiple sclerosis (MS). METHODS: Clinical and radiological characteristics of 28 patients with NMO at onset and of 17 patients after an average follow-up time of 9 years were recorded. Fifty percent of patients were seropositive for AQP4-Ab. Onset and final brain/spinal MRI scans were retrospectively analysed and compared. RESULTS: Significantly more patients in the seronegative group had brain lesions at onset. Spinal lesions of seropositive patients were longer and showed increased cord swelling at onset MRI scans. After the follow-up time the differences between both groups disappeared. Patients in the seropositive group tended to develop brain lesions over time. No patient fulfilled Barkhof's or McDonald's radiological criteria for MS at onset or over time. CONCLUSION: Brain MRI features show differences between seropositive and seronegative patients at time of onset in NMO, but differences between groups vanish over time. None of the AQP4-negative patients fulfill radiological MS criteria on a long-term basis, suggesting that seronegative NMO constitutes an independent entity.


Assuntos
Autoanticorpos/sangue , Encéfalo/patologia , Neuromielite Óptica/imunologia , Neuromielite Óptica/patologia , Medula Espinal/patologia , Adulto , Aquaporina 4/imunologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/diagnóstico , Neuroimagem , Neuromielite Óptica/sangue , Fatores de Tempo
12.
Mult Scler ; 18(8): 1135-43, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22183934

RESUMO

BACKGROUND: Neuromyelitis optica (NMO, Devic syndrome) and myasthenia gravis (MG) are rare antibody-mediated autoimmune disorders. Concurrent incidence has been reported in only few patients, mostly non-Caucasians. OBJECTIVE: To report on ten Caucasian patients with NMO spectrum disorders (NMOSD) and MG and to provide a comprehensive review of the literature. METHOD: Retrospective study. RESULTS: In total, 26 patients (m:f = 1:12; Caucasian in 12) with MG (generalized in 17) and NMOSD (NMO in 21, longitudinally extensive transverse myelitis in five) were identified from the authors' own files (n = 10) and the previous literature (n = 16). MG preceded NMOSD in 24/25 cases (96%). AQP4-Ab were tested in 20 patients and were positive in 17 (85%). Twenty out of 25 patients (80%) had been treated with thymectomy or thymic irradiation, which preceded NMOSD in all cases (median latency, 12 years; range, 0.3-32). At last follow-up, complete remission of MG was reported in 15/22 (68%), and MG was well controlled with pyridostigmine in three. Co-existing autoimmune disorders or autoimmune antibodies were reported in 17 patients. CONCLUSION: Our study demonstrates that i) AQP4-Ab-positive NMOSD are more commonly associated with MG in Caucasians than previously thought; ii) MG precedes NMOSD in most cases, often by more than a decade; iii) NMOSD almost exclusively occur in females with juvenile or early-onset MG; and iv) MG frequently takes an unusually mild course in patients with NMOSD. A history of thymectomy could be a possible risk factor for the later development of NMOSD. We recommend testing for AQP4-Ab in MG patients presenting with atypical motor or optic symptoms.


Assuntos
Aquaporina 4/imunologia , Autoanticorpos/sangue , Miastenia Gravis/complicações , Neuromielite Óptica/complicações , Adolescente , Adulto , Criança , Inibidores da Colinesterase/uso terapêutico , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Miastenia Gravis/diagnóstico , Miastenia Gravis/etnologia , Miastenia Gravis/imunologia , Miastenia Gravis/terapia , Neuromielite Óptica/diagnóstico , Neuromielite Óptica/etnologia , Neuromielite Óptica/imunologia , Bandas Oligoclonais/sangue , Bandas Oligoclonais/líquido cefalorraquidiano , Brometo de Piridostigmina/uso terapêutico , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Timectomia , Fatores de Tempo , Resultado do Tratamento , População Branca , Adulto Jovem
13.
Eur J Gynaecol Oncol ; 33(5): 549-51, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23185811

RESUMO

INTRODUCTION: Malignant primary peritoneal mesothelioma is a rare and highly aggressive tumor. This tumor can be misdiagnosed as ovarian carcinoma. CASE: Two cases of malignant primary peritoneal mesothelioma that were misdiagnosed as ovarian carcinoma were operated in our instutition. Patients were 74 and 45 years-old at admittance. CONCLUSION: Malignant primary peritoneal mesothelioma is being a problem for gynecologic oncologists because of the close similarity with epithelial ovarian cancer. Diagnosis and treatment of these patients are still under debate.


Assuntos
Mesotelioma/patologia , Neoplasias Peritoneais/patologia , Idoso , Erros de Diagnóstico , Feminino , Humanos , Mesotelioma/diagnóstico , Pessoa de Meia-Idade , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/patologia , Neoplasias Peritoneais/diagnóstico
14.
J BUON ; 17(4): 669-76, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23335523

RESUMO

PURPOSE: To determine the clinical features of bevacizumab-associated toxicities in metastatic colorectal cancer (MCRC) patients. METHODS: The medical records of 60 patients with MCRC who were treated with chemotherapy including bevacizumab in the first-line setting were retrospectively evaluated. RESULTS: Bevacizumab was administered along with irinotecan plus 5-fluorouracil7sol;leucovorin (5-FU/LV) to 44 patients, 57horbar;FU7sol;LV+oxaliplatin to 8 patients, capecitabine+oxaliplatin to 6 patients and 5-FU/LV to 2 patients. The total number of the cycles received was 381 (median 6, range 17horbar;13). The most common bevacizumab-related toxicity was grade 1-2 bleeding (28%) followed by hypertension (17%). Grade 1-2 proteinuria was seen in 8% of the patients (no grade 3-4 proteinuria). Arterial thromboembolic events (ATE) were not observed, however 3 patients (5%) had experienced grade 3-4 venous thromboembolic events. In 3 patients (5%) grade 1-2 wound complications were seen (delayed wound healing in the place of the venous access device in 2, and wound infection in 1). In addition, gastrointestinal perforation (GIP) was seen in 3 (5%) patients. Two of the patients were treated by surgical intervention and one patient died of sepsis. CONCLUSION: Bevacizumab is well tolerated when combined with various chemotherapy regimens. As bevacizumab is becoming widely used in the routine oncology practice, further studies which investigate the mechanism of bevacizumab-associated toxicities are warranted to develop effective management strategies for these adverse events.


Assuntos
Inibidores da Angiogênese/efeitos adversos , Anticorpos Monoclonais Humanizados/efeitos adversos , Neoplasias Colorretais/tratamento farmacológico , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Adulto , Idoso , Idoso de 80 Anos ou mais , Bevacizumab , Neoplasias Colorretais/patologia , Feminino , Hemorragia/induzido quimicamente , Humanos , Hipertensão/induzido quimicamente , Perfuração Intestinal/induzido quimicamente , Masculino , Pessoa de Meia-Idade , Metástase Neoplásica , Tromboembolia/induzido quimicamente
15.
Eur J Neurol ; 17(10): 1304-7, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20236177

RESUMO

BACKGROUND: GQ1b antibody (GQ1b-Ab) is detected in approximately two-thirds of sera of patients with Bickerstaffs encephalitis (BE). Whilst some of the remaining patients have antibodies to other gangliosides, many patients with BE are reported to be seronegative. METHODS AND RESULTS: Voltage-gated potassium channel antibody (VGKC-Ab) at high titer was detected during the diagnostic work-up of one patient with BE. Sera of an additional patient with BE and nine patients with Miller Fisher syndrome (MF) (all GQ1b-Ab positive) were investigated for VGKC-Ab and other anti-neuronal antibodies by radioimmunoprecipitation using 125I-dendrotoxin-VGKC and immunohistochemistry, respectively. Two patients with MF exhibited moderate titer VGKC-Abs. Regardless of positivity for VGKC or GQ1b antibodies, serum IgG of all patients with BE and MF reacted with the molecular layer and Purkinje cells of the cerebellum in a distinctive pattern. CONCLUSION: Voltage-gated potassium channel antibodies might be involved in some cases of BE or MF. The common staining pattern despite different antibody results suggests that there might be other, as yet unidentified, antibodies associated with BE and MF.


Assuntos
Autoanticorpos/biossíntese , Encefalite/complicações , Encefalite/diagnóstico , Síndrome de Miller Fisher/complicações , Síndrome de Miller Fisher/diagnóstico , Neurônios/imunologia , Canais de Potássio de Abertura Dependente da Tensão da Membrana/imunologia , Adulto , Idoso , Animais , Autoanticorpos/sangue , Encefalite/imunologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome de Miller Fisher/imunologia , Ratos , Adulto Jovem
16.
J BUON ; 15(2): 303-9, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20658726

RESUMO

PURPOSE: To determine the beliefs of Turkish cancer patients about the etiology of carcinogenesis. METHODS: The study was carried out at Istanbul Bilim University, European Florence Nightingale Hospital, Department of Medical Oncology. The data were collected during April-June 2008 from 39 women and 23 men. Sociodemographic data form and beliefs on the reasons of carcinogenesis rating scale were used while collecting the data. RESULTS: Of the patients recruited in this study 29 (47%) took it as fate, 28 (45%) as a rightful punishment, 28 (45%) as a result of air pollution and toxins in food, 26 (42%) because of losing a beloved person, 26 (42%) as a result of wrong nutrition, smoking and alcohol consumption. In women the most common belief was fate (n=20, 51%), while in men it was air pollution and toxins in food (n=12, 52%). In primary school graduate patients or patients with no education the most common belief was rightful punishment (n=17, 62%), whereas in university graduate patients it was wrong nutrition, smoking and alcohol consumption (n=12, 63%). CONCLUSION: A considerable proportion of patients behaved in a fatalistic manner. This may cause a risk of taking the responsibility of treatment and control of disease not by the doctor but by other persons. It seems that sex and educational status are important factors in relation with the beliefs of the patients. Meanings attributed to the disease by the patients should be found in order to increase their treatment compliance and be helpful to face off the disease. Patients should also be encouraged to change thoughts that affect treatment process negatively.


Assuntos
Neoplasias/etnologia , Adulto , Idoso , Atitude Frente a Saúde , Cultura , Coleta de Dados , Demografia , Ética , Feminino , Humanos , Estilo de Vida , Masculino , Pessoa de Meia-Idade , Neoplasias/etiologia , Punição , Estresse Psicológico , Turquia
17.
Arch Pediatr ; 27(6): 304-309, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32718814

RESUMO

PURPOSE: The functional use of the upper extremities in daily living activities has become important in the later ages with the increasing life expectancy of patients with Duchenne muscular dystrophy (DMD). This study aimed to assess manual ability and upper limb performance of nonambulatory children with DMD, and to determine their relationship with factors that might affect ability and performance. METHODS: Manual ability was determined via the ABILHAND-Kids questionnaire and upper limb performance was assessed with the Performance of Upper Limb (PUL) test. Possible related factors such as functional level, steroid usage, upper limb range of motion (ROM), thumb opposition, upper limb muscular strength, and grip strength were evaluated. Correlations of related factors with manual ability and upper limb performance were analyzed. RESULTS: The mean age of 23 nonambulatory DMD children was 13.04±1.39 years. Moderate impairments were determined according to the ABILHAND-Kids and PUL, with scores of 26.30±10.74 and 46.22±15.02, respectively. The functional level, steroid usage, duration of wheelchair use, upper extremity ROM, and global upper limb muscle strength of children were weak-to-strongly correlated with at least one score of ABILHAND-Kids and PUL (P<0.05). CONCLUSION: Children with DMD may already have severe proximal and mid-level upper extremity involvement, even reflected in distal functions, at the time when they progress to the nonambulatory stage. Besides muscular strength, many related factors should be taken into account for therapists to assess and treat upper limb performance at later stages of DMD.


Assuntos
Distrofia Muscular de Duchenne/fisiopatologia , Extremidade Superior/fisiopatologia , Atividades Cotidianas , Adolescente , Criança , Avaliação da Deficiência , Feminino , Humanos , Masculino , Limitação da Mobilidade , Força Muscular , Estudos Prospectivos , Amplitude de Movimento Articular
18.
J Fr Ophtalmol ; 43(2): 103-110, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31952876

RESUMO

PURPOSE: To observe the rate of hypotony and intraocular pressure (IOP) fluctuations immediately following intravitreal dexamethasone implantation in vitrectomized eyes. METHODS: The study included previously vitrectomized eyes scheduled to receive intravitreal dexamethasone implants. IOP measurements were performed at minute 1, minute 10, hour 1, hour 2, hour 3 and day 1. The primary outcome measure of the study was the rate of hypotony at the various time points, while the secondary outcome measure was the IOP profile over time. RESULTS: A total of 26 eyes were enrolled in the study. Immediately following the injection, 11 (42.3%) of the eyes exhibited an IOP<6mm Hg. Hypotony was observed in one eye (3.8%) at hour 3 and day 1. After the immediate IOP reduction, IOP recovered rapidly and showed a peak at hour 1, with 5 eyes (19.2%) exhibiting IOP levels ≥25mmHg and 1 eye (3.8%) ≥30mm Hg. Aside from the eye with persistent hypotony resulting in a choroidal effusion, no other complication was observed. CONCLUSIONS: Injection of dexamethasone implants in vitrectomized eyes resulted in immediate IOP reduction. Hypotony showed a short, self-limited course in the majority of eyes. In the presence of additional risk factors for wound incompetency, regular follow-up in the early post-injection period appears to be needed.


Assuntos
Dexametasona/administração & dosagem , Implantes de Medicamento/administração & dosagem , Pressão Intraocular/efeitos dos fármacos , Hipotensão Ocular/tratamento farmacológico , Vitrectomia , Idoso , Oftalmopatias/complicações , Oftalmopatias/tratamento farmacológico , Oftalmopatias/fisiopatologia , Oftalmopatias/cirurgia , Feminino , Humanos , Pressão Intraocular/fisiologia , Injeções Intravítreas , Masculino , Pessoa de Meia-Idade , Hipotensão Ocular/complicações , Hipotensão Ocular/fisiopatologia , Hipotensão Ocular/cirurgia , Estudos Retrospectivos , Tonometria Ocular , Vitrectomia/reabilitação , Corpo Vítreo/efeitos dos fármacos
19.
J Fr Ophtalmol ; 43(9): 891-897, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32811659

RESUMO

OBJECTIVE: To determine the efficacy of ocular trauma score (OTS) in determining the prognosis in patients with open globe injury who admitted to our clinic. MATERIALS AND METHODS: Data of patients with open globe injury who were admitted to our clinic between 2014 and 2016 were retrospectively analyzed. The OTS raw score of each patient was determined and translated into OTS categories according to OTS study. Prognostic results of OTS study and current study was compared with chi square analysis. RESULTS: In our study, 101 eyes of 101 patients were examined. The mean age of the patients was 27.08±15.36 years. The mean follow-up period was 12.84±9.04 months. In total, 86 of the cases were male (85.1%). In our study, the mean initial visual acuity of the patients was 0.10±0.23. In 64.3% of the cases, IVA was at hand movement level or lower. IVA was found to be≥20/40 in 10.9%. The mean FVA was 0.38±0.37. In total, 41.6% of the cases had a FVA≥20/40. In 28.7% of these cases, FVA was at hand movement level or lower. While no significant difference was found in patients with OTS3, OTS 4 and OTS 5 (P>0.05), prognosis of patients with OTS 1 and OTS 2 was better than OTS study (P<0.001) CONCLUSION: Although OTS can be effective and safe data in terms of prognosis, it can be improved with more comprehensive studies.


Assuntos
Traumatismos Oculares , Adolescente , Adulto , Criança , Traumatismos Oculares/complicações , Traumatismos Oculares/diagnóstico , Traumatismos Oculares/epidemiologia , Humanos , Masculino , Estudos Retrospectivos , Índices de Gravidade do Trauma , Turquia/epidemiologia , Acuidade Visual , Adulto Jovem
20.
J Fr Ophtalmol ; 43(10): 996-1001, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32972758

RESUMO

PURPOSE: To evaluate postoperative change in choroidal thickness (CT) in patients with anisometropic amblyopia undergoing keratorefractive surgery. METHODS: Anisometropic amblyopic patients and nonamblyopic patients who underwent keratorefractive surgery were included in the study. The eyes were divided into three groups. Group 1 consisted of eyes with anisometropic amblyopia, group 2 were the nonamblyopic fellow eyes, and group 3 (control group) were nonamblyopic eyes which had undergone keratorefractive surgery. At the third postoperative month, the CT of these eyes were measured by Enhanced Depth Imaging OCT (EDI-OCT). The choroidal thickness (CT) was measured in the subfoveal area and at 500 micron intervals nasally and temporally. RESULTS: Twenty-three anisometropic amblyopia patients with amblyopic and fellow eyes and 23 control eyes were enrolled. The mean subfoveal choroidal thickness (CT) was 387.3±168.8µm in group 1, 412.2±88.8µm in group 2 and 337.3±99µm in group 3 (P: 0.019). Group 1 and group 2 showed higher choroidal thickness (CT) in the nasal and temporal quadrants than group 3 (P: 0.03, P: 0.04). At the third postoperative month, central foveal choroidal thickness was 356.6±115.5µm in group 1, 375.1±112.5µm in group 2 and 284.4±98.9µm in group 3 (P: 0.071). Choroidal thickness (CT) in the nasal and temporal quadrants at the third postoperative month was also similar (P: 0.210, P: 0.103). CONCLUSIONS: The macular choroid is thicker in amblyopic eyes and non-amblyopic fellow eyes than in the nonamblyopic controls. Improved fixation after refractive surgery may normalize CT.


Assuntos
Ambliopia/cirurgia , Anisometropia/cirurgia , Corioide/patologia , Ceratoplastia Penetrante , Complicações Pós-Operatórias/diagnóstico , Adulto , Ambliopia/complicações , Ambliopia/diagnóstico por imagem , Ambliopia/patologia , Anisometropia/complicações , Anisometropia/diagnóstico por imagem , Anisometropia/patologia , Estudos de Casos e Controles , Corioide/diagnóstico por imagem , Corioide/cirurgia , Feminino , Humanos , Ceratoplastia Penetrante/efeitos adversos , Ceratoplastia Penetrante/métodos , Masculino , Tamanho do Órgão , Complicações Pós-Operatórias/patologia , Estudos Prospectivos , Tomografia de Coerência Óptica/métodos , Adulto Jovem
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