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371.
Delineating the spectrum of impairments,disabilities, and rehabilitation needs in methylmalonic acidemia (MMA) 下载免费PDF全文
372.
Marilita M Moschos MD PhD Irini P Chatziralli MD Flora Zagouri MD PhD George C Zografos MD PhD 《Clinical & experimental optometry》2012,95(6):646-650
A 72‐year‐old woman presented with unexplained, progressive, painless visual loss in the right eye during the past six months. At presentation visual acuity (VA) was 3/60 in the right eye and 6/6 in the left eye. Anterior segment examination and intraocular pressures were normal. Dilated fundoscopy revealed significant macular oedema in the right eye and a normal fundus appearance in the left eye. Her medical history was noteworthy for breast ductal carcinoma in situ, for which she had undergone right mastectomy three years earlier. She had not received chemotherapy or radiotherapy but she had been under treatment with letrozole 2.5 mg/day over the past three years. She did not receive any other medication. Optical coherence tomography showed intraretinal fluid and a significant increase in retinal thickness in the foveal and parafoveal areas, while fluorescein angiography detected foveal hyperfluorescence and leakage of the dye in the late phase. Multifocal electroretinogram showed a decreased response in both eyes. In suspicion of letrozole‐related retinopathy, the patient was advised to stop the medication. The patient agreed to receive an intravitreal injection of 0.05 ml/0.5 mg ranibizumab. One month later, VA in the right eye was 6/9 and macular oedema had apparently improved. This is the first reported case of letrozole‐associated macular oedema treated with intravitreal ranibizumab. 相似文献
373.
374.
Aortic thrombi are commonly present in atherosclerotic and aneurysmatic aortas. Thrombus formation in an aorta with or focal
atherosclerosis in a patient without risk factors is rare. A 63-year-old woman with dementia and hypothyroidism presented
with hypotension and respiratory distress. Work-up revealed leukocytosis, sinus tachycardia, and proximal small bowel obstruction.
At emergent laparotomy, a superior mesenteric artery thomboembolus was identified with necrosis of surrounding bowel. The
patient expired on hospital day five. Autopsy revealed a 1.4 cm thrombus overlying an isolated atherosclerotic plaque in the
ascending aorta and infarctions of the spleen, liver, and right kidney as well as occlusive thromboembolism of the superior
mesenteric artery. This case report illustrates lethal complications from an unsuspected aortic thrombus. Work-up for patients
presenting with signs of peripheral embolization, or in this case, necrotic bowel, should include the aorta as a source of
embolic thrombi. 相似文献
375.
Siagris D Kouraklis-Symeonidis A Konstantinidou I Christofidou M Starakis I Lekkou A Papadimitriou C Blikas A Zoumbos N Labropoulou-Karatza C 《World journal of gastroenterology : WJG》2008,14(10):1559-1563
AIM: To detect the prevalence of anti-HAV IgG antibodies in adult multitransfused beta-thalassemic patients. METHODS: We studied 182 adult beta-thalassemic patients and 209 controls matched for age and sex from the same geographic area, at the same time. Anti-HAV IgG antibodies, viral markers of hepatitis B virus (HBV) and hepatitis C virus (HCV) infection were evaluated. RESULTS: Anti-HAV IgG antibodies were detected more frequently in thalassemic patients (133/182; 73.1%) than in healthy controls (38/209; 18.2%, P 〈 0.0005). When we retrospectively evaluated the prevalence of anti-HAV IgG antibodies in 176/182 (96.7%) thalassemic patients, whose medical history was available for the previous ten years, it was found that 83 (47.2%) of them were continuously anti-HAV IgG positive, 16 (9.1%) acquired anti-HAV IgG antibody during the previous ten years, 49 (27.8%) presented anti-HAV positivity intermittently and 28 (15.9%) were anti-HAV negative continuously. CONCLUSION: Multitransfused adult beta-thalassemic patients present higher frequency of anti-HAV IgG antibodies than normal population of the same geographic area. This difference is difficult to explain, but it can be attributed to the higher vulnerability of thalassemics to HAV infection and to passive transfer of anti-HAV antibodies by blood transfusions. 相似文献
376.
Hodge JN Srinivasula S Hu Z Read SW Porter BO Kim I Mican JM Paik C Degrange P Di Mascio M Sereti I 《Blood》2011,118(12):3244-3253
IL-7 is essential for T-cell homeostasis. Elevated serum IL-7 levels in lymphopenic states, including HIV infection, are thought to be due to increased production by homeostatic feedback, decreased receptor-mediated clearance, or both. The goal of this study was to understand how immune reconstitution through antiretroviral therapy (ART) in HIV(+) patients affects IL-7 serum levels, expression of the IL-7 receptor (CD127), and T-cell cycling. Immunophenotypic analysis of T cells from 29 HIV(-) controls and 43 untreated HIV(+) patients (30 of whom were followed longitudinally for ≤ 24 months on ART) was performed. Restoration of both CD4(+) and CD8(+) T cells was driven by increases in CD127(+) naive and central memory T cells. CD4(+) T-cell subsets were not fully restored after 2 years of ART, whereas serum IL-7 levels normalized by 1 year of ART. Mathematical modeling indicated that changes in serum IL-7 levels could be accounted for by changes in the receptor concentration. These data suggest that T-cell restoration after ART in HIV infection is driven predominantly by CD127(+) cells and that decreases of serum IL-7 can be largely explained by improved CD127-mediated clearance. 相似文献
377.
Schürks M Limmroth V Geissler I Tessmann G Savidou I Engelbergs J Kurth T Diener HC Rosskopf D 《Headache》2007,47(8):1195-1199
BACKGROUND: The hypocretin receptor 2 (HCRTR2) G1246A polymorphism has been associated with the risk for cluster headache. Since the hypothalamic hypocretin/orexin system projects throughout the nervous system and affects multiple vegetative functions including generation of rhythmicity, vasomotion, autonomic symptoms as well as modulation of nociception, it may also be linked with migraine. OBJECTIVE: We thus sought to evaluate whether the HCRTR2 G1246A polymorphism is associated with the risk for migraine. METHODS: We prospectively established a cohort of 146 unrelated patients with migraine. The control group consisted of 279 healthy volunteers. We genotyped patients and controls for the HCRTR2 G1246A polymorphism and examined an association with presence or absence of migraine. RESULTS: Genotype and allele frequencies were not significantly different between migraine patients and controls (genotype distribution: chi(2)= 4.13, 2 df, P= .13; allele distribution: chi(2)= 0.9, 1 df, P= .34). CONCLUSION: Our study does not support a major contribution of the HCRTR2 G1246A polymorphism to the pathogenesis of migraine in contrast to its effects in cluster headache. 相似文献
378.
Moulas AN Gerogianni IC Papadopoulos D Gourgoulianis KI 《Respirology (Carlton, Vic.)》2006,11(2):169-174
OBJECTIVES: Epidemiological studies have shown an inverse relationship between dietary vitamin A intake and the risk of developing lung cancer. The aim of this study was to investigate the vitamin A status in patients with lung cancer, by determining the serum levels of retinoic acid, retinol and retinyl palmitate. METHODS: In total, 36 patients with lung cancer and 27 controls were assessed. Of the patients 14 had squamous cell carcinoma, 3 adenocarcinoma, 15 non-small cell lung cancer and 4 small cell lung cancer. Serum retinoic acid, retinol and retinyl palmitate levels were determined with HPLC and UV detection, after liquid extraction. RESULTS: Serum retinol levels did not differ between patients (733.5 +/- 326.4 ng/mL) and controls (734.5 +/- 337.1 ng/mL). The retinyl palmitate concentration tended to be lower in patients (14.3 +/- 9.7 ng/mL) than in controls (16.7 +/- 13.7 ng/mL). The serum retinoic acid levels were significantly lower in patients (1.9 +/- 0.6 ng/mL) than in controls (2.5 +/- 1.1 ng/mL, P < 0.05). A positive correlation was observed between the retinol and retinoic acid levels and retinyl palmitate and retinoic acid levels. CONCLUSIONS: The lower levels of retinoic acid in patients with lung cancer suggest there may be a deficiency or impairment in retinol metabolism in these patients. Further studies with larger numbers of patients are needed to evaluate the possible relationship between serum retinoid levels and lung cancer. 相似文献
379.
Stergiou GS Nasothimiou EG Destounis A Poulidakis E Evagelou I Tzamouranis D 《American journal of hypertension》2012,25(9):974-978
BackgroundA unique advantage of ambulatory blood pressure (ABP) monitoring is the assessment of nocturnal blood pressure (BP) and the detection of non-dippers. This study assessed nocturnal BP and non-dippers using a novel home BP (HBP) monitor.MethodsEighty-one hypertensives performed within 2 weeks ABP (24-h, Microlife WatchBP O3) and HBP monitoring (Microlife WatchBPN) during daytime (6 days, duplicate morning and evening measurements) and nighttime (automated asleep measurements, 3 nights, 3 readings/night). Patients' preference in using ABP or HBP was assessed by a questionnaire.ResultsStrong associations were found between ABP and HBP (intraclass correlation coefficients for awake systolic/diastolic 0.75/0.81; asleep 0.87/0.85). No statistically significant difference was found between HBP and ABP (mean difference ± SD awake systolic/diastolic 1.5 ± 10.1/-1.1 ± 6.0 mm Hg, P = 0.20/0.09; asleep -0.4 ± 7.8/-1.0 ± 5.3, P = 0.63/0.09). There was substantial agreement (74%, kappa 0.2) between ABP and HBP in the detection of non-dippers, which was similar to the previously reported test-retest reproducibility of repeated ABP monitoring in the diagnosis of non-dippers. Moderate to severe disturbance from ABP monitoring was reported by 18% of the participants and severe restriction of their daily activities by 9, vs. 3 and 1.5%, respectively for HBP (P < 0.001/ <0.01, for comparisons respectively). Nighttime BP monitoring and cuff discomfort were the main complaints for ABP (46 and 32%, respectively) and HBP (34 and 28%), whereas 89% reported more nighttime sleep disturbance by ABP than HBP (P < 0.001).ConclusionsHBP monitoring appears to be a reliable and well accepted by users alternative to ABP for the assessment of nocturnal BP and the detection of non-dippers.American Journal of Hypertension 2012; doi:10.1038/ajh.2012.82. 相似文献
380.
Harilaos Ginis Iro Pentari Dirk de Brouwere Dimitris Bouzoukis Irini Naoumidi Ioannis Pallikaris 《Ophthalmic & physiological optics》2009,29(3):357-362
Corneal haze following excimer laser ablation is an adverse after-effect of photorefractive keratectomy (PRK) and is associated with the development of subepithelial opacities. The present work pertains to the measurement of light scattering in rabbit corneas following excimer laser treatment; to the microscopic analysis of the light-scattering corneal structures; and to the development of a mathematical model of light propagation through the post-laser treatment cornea. Photorefractive keratectomy (PRK-6D, 6 mm optical zone) followed by standard postoperative pharmaceutical treatment was performed on rabbit eyes. Animals were examined clinically on a weekly basis and sacrificed after the tenth postoperative week. Confocal microscope image sequences were acquired immediately before animal sacrifice. After the scatter measurement, the corneas were prepared for histopathological evaluation. The subepithelial structures observed using the confocal microscope correspond to refractive index (and therefore optical path difference (OPD) variation. This OPD distribution can be approximated with a fractal surface, band-pass filtered in the Fourier domain. The angular distribution of scattered light is characterised by a narrow forward peak of the order of 0.5° full-width at half maximum (FWHM) in accordance with the sizes of the subepithelial structures (5–150 μm).The intensity of scattered light is correlated with the thickness of the subepithelial scar-tissue layer. 相似文献