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Cri du chat syndrome is an autosomal disorder. Because it affects few people in the population it is considered a rare disease, yet it is one of the most common autosomal chromosomal syndromes in humans. It entails pathognomonic alterations that affect the craniofacial and oral anatomy of patients. The aim of this study is to review these craniofacial and oral abnormalities in patients with Cri du chat syndrome. The PubMed Medline database was searched using two different strategies. First, we used “Dentistry” and “Cri du chat” as keywords; second, we used “Cri du chat” and “craniofacial.” Seven articles in which the main orofacial and cranio‐skeletal characteristics of patients with Cri du chat syndrome were described were selected according to the inclusion and exclusion criteria. Cri du Chat syndrome entails pathognomonic characteristics in the craniofacial area (epicanthus, short philtrum, and wide nasal bridge), the oral area (mandibular retrognathism and anterior open bite) and the cranial region (alterations at the cranial base angle and a small upper airway). However, more studies on larger samples are needed to specify the orofacial and craniofacial characteristics of patients with Cri du chat syndrome more accurately. Clin. Anat. 29:555–560, 2016. © 2015 Wiley Periodicals, Inc.  相似文献   
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Late-life depression (LLD) is a prevalent and disabling condition in older adults that is often accompanied by slowed processing and gait speed. These symptoms are related to impaired dopamine function and sometimes remedied by levodopa (L-DOPA). In this study, we recruited 33 older adults with LLD to determine the association between a proxy measure of dopamine function—neuromelanin-sensitive magnetic resonance imaging (NM-MRI)—and baseline slowing measured by the Digit Symbol test and a gait speed paradigm. In secondary analyses, we also assessed the ability of NM-MRI to predict L-DOPA treatment response in a subset of these patients (N = 15) who received 3 weeks of L-DOPA. We scanned a further subset of these patients (N = 6) with NM-MRI at baseline and after treatment to preliminarily evaluate the effects of L-DOPA treatment on the NM-MRI signal. We found that lower baseline NM-MRI correlated with slower baseline gait speed (346 of 1807 substantia nigra–ventral tegmental area (SN-VTA) voxels, Pcorrected = 0.038), particularly in the more medial, anterior, and dorsal SN-VTA. Secondary analyses failed to show an association between baseline NM-MRI and treatment-related changes in gait speed, processing speed, or depression severity (all Pcorrected > 0.361); we however found preliminary evidence of increases in the NM-MRI signal 3 weeks post-treatment with L-DOPA compared to baseline (200 of 1807 SN-VTA voxels; Pcorrected = 0.046), although the small sample size of these preliminary analyses warrants caution in their interpretation and future replications. Overall, our findings indicate that NM-MRI is sensitive to variability in gait speed in patients with LLD, suggesting this non-invasive MRI measure may provide a promising marker for dopamine-related psychomotor slowing in geriatric neuropsychiatry.Subject terms: Cognitive neuroscience, Depression, Biomarkers  相似文献   
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IntroductionMuir-Torre syndrome is a genetic disease characterised by the association of sebaceous neoplasms with visceral neoplasms, mainly colorectal cancer and secondly urogenital tumours. Metastases from prostate tumours without systemic disease are rare in the brain and exceptional in the brainstem.Case reportWe present a 48-year old male, with a single brainstem metastasis from a prostate adenocarcinoma, who had previously been diagnosed with Muir-Torre syndrome. Diagnostic stereotactic biopsy was performed.ConclusionSingle metastasis from a prostate adenocarcinoma in the brainstem without systemic disease is exceptional. Due to the different diagnostic possibilities, biopsy should be performed in order to obtain a diagnosis, especially in the context of Muir-Torre syndrome.  相似文献   
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Parasitology Research - Lagochilascariosis is an emerging parasitic disease limited to the American continent, caused by nematodes of the genus Lagochilascaris. Its life cycle is heteroxenous,...  相似文献   
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Diagnosis of invasive mycoses is a difficult challenge due to the limitations and low sensitivity of traditional microbiology methods which lead to diagnostic and therapeutic delays. The aim of this review is to summarise the state of the art of the molecular diagnosis of invasive fungal disease and to clarify its current role in the clinical practice. Conventional microbiological methods could be complemented with molecular methods in the rapid and definitive identification of fungal isolates. Biomarkers (β-glucan, galactomannan) are very useful in immunocompromised patients and have been included as probable invasive mycoses by the EORTC/MSG. Nucleic acid detection is currently used as a complementary tool for diagnosis. However, PCR can be very useful in mould invasive mycoses. Finally, the combined detection using biomarkers can improve the diagnosis. However, their applicability in the microbiology laboratory is not so easy and further studies are required for the appropriate evaluation of its clinical usefulness.  相似文献   
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OBJECTIVEDiabetes and hyperglycemia are important risk factors for poor outcomes in hospitalized patients with coronavirus disease 2019 (COVID-19). We hypothesized that achieving glycemic control soon after admission, in both intensive care unit (ICU) and non-ICU settings, could affect outcomes in patients with COVID-19.RESEARCH DESIGN AND METHODSWe analyzed pooled data from the Glytec national database including 1,544 patients with COVID-19 from 91 hospitals in 12 states. Patients were stratified according to achieved mean glucose category in mg/dL (≤7.77, 7.83–10, 10.1–13.88, and >13.88 mmol/L; ≤140, 141–180, 181–250, and >250 mg/dL) during days 2–3 in non-ICU patients or on day 2 in ICU patients. We conducted a survival analysis to determine the association between glucose category and hospital mortality.RESULTSOverall, 18.1% (279/1,544) of patients died in the hospital. In non-ICU patients, severe hyperglycemia (blood glucose [BG] >13.88 mmol/L [250 mg/dL]) on days 2–3 was independently associated with high mortality (adjusted hazard ratio [HR] 7.17; 95% CI 2.62–19.62) compared with patients with BG <7.77 mmol/L (140 mg/dL). This relationship was not significant for admission glucose (HR 1.465; 95% CI 0.683–3.143). In patients admitted directly to the ICU, severe hyperglycemia on admission was associated with increased mortality (adjusted HR 3.14; 95% CI 1.44–6.88). This relationship was not significant on day 2 (HR 1.40; 95% CI 0.53–3.69). Hypoglycemia (BG <70 mg/dL) was also associated with increased mortality (odds ratio 2.2; 95% CI 1.35–3.60).CONCLUSIONSBoth hyperglycemia and hypoglycemia were associated with poor outcomes in patients with COVID-19. Admission glucose was a strong predictor of death among patients directly admitted to the ICU. Severe hyperglycemia after admission was a strong predictor of death among non-ICU patients.  相似文献   
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Background: Synchronization between the left ventricle and a left ventricular assist device (LVAD) may be important for ventricular unloading and coronary perfusion. We assessed the synchrony between cardiac and LVAD cycles by increasing delays in steps of 100 msec throughout the cycle, under conditions of total and partial left ventricular support. Methods: We studied 7 healthy minipigs weighing 30-40 kg. A 60-cc Berlin Heart Excor LVAD was implanted and connected to a BCM 1200 console, making it possible to synchronize the LVAD systole and the EKG signal with a prefixed delay. We recorded hemodynamic parameters (including aortic, pulmonary, and left ventricular pressure) and LVAD flow for each delay. Results: Intraventricular pressure during LVAD systole was minimized with delays of around 40-80% of one cycle. In addition, total flow was higher under these conditions. Conclusions: This study shows that the synchronous mode of LVAD operation is feasible. Moreover, a delay in device contraction until the second half of the cardiac cycle optimizes ventricular unloading and may eventually improve myocardial recovery.  相似文献   
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