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The CDKL5 disorder is characterized by early onset epilepsy, stereotypical hand movement, absent speech and severe hypotonia. Herein, we report epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS) in apatient with CDKL5 disorder. She admitted with complaints of frequently recurring generalized tonic and myoclonic seizures. The diagnoses were confirmed by de novo CDKL5 mutation, c.197_198delCT (p.L67QfsX23). Interictal EEG revealed generalized spike and slow-wave activity, occurring intermittently in wakefulness but present for at least 85% of non-REM sleep, consistent with the diagnosis of CSWS. To our knowledge, this is the first report of CSWS associated with CDKL5 disorder.  相似文献   
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Paketci  Cem  Edem  Pinar  Okumus  Canan  Sarioglu  Fatma Ceren  Bayram  Erhan  Hiz  Semra  Yis  Uluç 《Journal of neurovirology》2020,26(2):270-272
Journal of NeuroVirology - Acute cerebellitis is one of the most common cerebellar disorders and occurs due to para-infectious, post-infectious, or post-vaccination cerebellar inflammation. Herpes...  相似文献   
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ABSTRACT

Purpose

To investigate the corneal topometric and tomographic findings that can be used in the diagnosis of subclinical keratoconus.  相似文献   
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Objective

The objective of this study was to analyze the impact of advanced imaging applications and cone beam computed tomography (CBCT) on radiation exposure of the patient and operator and detection of technical problems during fenestrated-branched endovascular aortic repair (F-BEVAR) for treatment of pararenal aneurysms and thoracoabdominal aortic aneurysms (TAAAs).

Methods

We reviewed the clinical data of 386 consecutives patients (289 male; mean age, 75 ± 8 years) treated by F-BEVAR for 196 pararenal aneurysms and 190 TAAAs (mean, 3.4 ± 0.9 targeted vessels/patient) between 2007 and 2017. Radiation exposure (cumulative air kerma) was analyzed in three fixed imaging systems used between 2007 and 2011 (system 1), 2012 and 2016 (system 2), and 2016 and 2017 (system 3). Onlay fusion and CBCT were available with systems 2 and 3, whereas digital zoom with fusion overlay was used with system 3. Operator effective dose was measured per month using a radiation dosimeter badge. Computed tomography angiography and CBCT were analyzed for findings requiring immediate revision or secondary interventions. End points were patient radiation exposure; operator effective dose; procedure technical success; and 30-day rates of mortality, major adverse events, and secondary interventions.

Results

F-BEVAR was performed using system 1 in 98 patients, system 2 in 198 patients, and system 3 in 90 patients. Use of onlay fusion/CBCT was 0% with system 1, 42% with system 2, and 98% with system 3. Procedures performed with onlay fusion/CBCT had significantly (P < .05) higher technical success (99.4% vs 98.8%) and lower contrast material volume (155 ± 58 mL vs 172 ± 80 mL), fluoroscopy time (83 ± 34 minutes vs 94 ± 49 minutes), and cumulative air kerma (2561 ± 1920 mGy vs 3767 ± 2307 mGy). Despite higher case volume and increasing complexity during the experience, operator effective dose decreased to 9 ± 4 × 10?2 mSv/case with system 3 compared with 26 ± 3 × 10?2 mSv/case with system 1 and 20 ± 2 × 10?2 mSv/case with system 2 (P = .001). Among 219 patients who had no CBCT, 18 (8%) had computed tomography angiography findings that prompted secondary interventions before dismissal. Conversely, among 167 patients who had CBCT, 14 patients (8%) had intraoperative CBCT findings requiring immediate revision, with no additional secondary interventions. Patients treated with onlay fusion/CBCT had significantly (P < .05) lower mortality (4% vs 1%), major adverse events (43% vs 19%), and secondary interventions (10% vs 4%) at 30 days.

Conclusions

Radiation exposure and operator effective dose significantly decreased with evolution of F-BEVAR experience and use of advanced imaging applications such as onlay fusion and CBCT. CBCT allowed immediate assessment and identified intraoperative technical problems, leading to immediate revision and avoiding early secondary interventions.  相似文献   
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The study was conducted to determine the effects of music on auditory hallucination and quality of life in schizophrenic patients. The sample of this randomised controlled study consisted of 28 patients (14 experimental and 14 control groups) hospitalised with a diagnosis of schizophrenia (DSM-IV) and auditory hallucination. The study data were collected with the Information Form, The Scale for the Assessment of Positive Symptoms (SAPS), Characteristics of Auditory Hallucinations Questionnaire, and The World Health Organization Quality of Life Scale (WHOQOL-BREF). The hallucination, positive formal thought, and total SAPS scores of the patients in the experimental group obtained during their hospitalisation were determined to be higher than those obtained at discharge and at follow-ups after discharge. The characteristics of auditory hallucination questionnaire scores of the patients in the experimental and control groups decreased. The physical, mental, environmental, and national environmental domain scores of the quality of life in the experimental group increased at sixth month after discharge. Listening to music had positive effects on positive symptoms and the quality of life of patients with auditory hallucination. In line with these results, listening to music may be recommended to cope with auditory hallucinations and to provide positive quality of life.  相似文献   
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Identifying risk factors for mortality is crucial in the management of diabetic foot syndrome. We aimed to evaluate risk factors for mortality in patients with diabetic foot infection (DFI). A retrospective chart review was conducted on 401 patients from 2010 through 2019. Our primary endpoint was in‐hospital mortality. Patients were divided into two groups according to the outcome (survival or death). Clinical data were compared between the two groups statistically. A total of 401 patients were enrolled in the study, 280 (69.8%) of them were male and the mean age was 59.6 ± 11.1 years. The mean follow‐up period was 23.7 ± 22.9 months. In‐hospital mortality rate was 3%. Univariate analysis indicated that ischaemic wound (P = .023), hindfoot infection (P = .038), whole foot infection (P = .010), peripheral arterial disease (P = .024), high leucocyte levels (>12 040 K/μL) (P = .001), high thrombocyte levels (>378 000 K/μL) (P < 0.001), high C‐reactive protein levels (>8.81 mg/dL) (P = .022), and polymicrobial growth in deep tissue culture (P = .041) were significant parameters in predicting mortality. In multivariate analysis, peripheral arterial disease (odds ratio [OR]: 13.430, 95% confidence interval [Cl]: 1.129‐59.692; P = .040), high thrombocyte levels (OR: 1.000, 95% Cl: 1.000‐1.000; P = .022), and polymicrobial growth in deep tissue culture (OR: 7.790, 95% Cl: 1.592‐38.118; P = .011) were independent risk factors for mortality. In conclusion, peripheral arterial disease, high thrombocyte levels, and polymicrobial growth in deep tissue culture were independent risk factors for mortality in DFI.  相似文献   
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