A new cause of developmental and epileptic encephalopathy with continuous spike-and-wave during sleep: CDKL5 disorder

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.     

Comparison of the marginal fit of different coping materials and designs produced by computer aided manufacturing systems

In this study, marginal adaptations of different copings fabricated with CAD/CAM or MAD/CAM were analysed. Celay and Zirkonzahn groups were fabricated by MAD/CAM, LAVA and DC-Zircon groups were fabricated by CAD/CAM. Casting metal copings were used as the control group. An implant abutment that was embedded in octagonal acrylic block was used to prepare the copings. Sixteen previously established points were marked and the measurements were performed with the stereomicroscope (at × 150). The marginal fit of the samples were evaluated by calculating the mean measurements of each 16 points. The statistical analysis was performed by Tukey multiple comparisons test at 95% confidence interval. The groups can be summarized as follows in terms of marginal gap, from the lowest to highest: LAVA (24.6 ± 14.0 μm)相似文献   

Development and psychometric evaluation of the patient knowledge of,and attitudes and behaviours towards pressure ulcer prevention instrument (KPUP)

The Patient Knowledge of, and Attitude and Behaviour towards Pressure Ulcer Prevention Instrument (KPUP) was developed and validated using a two‐stage prospective psychometric instrument validation study design. In Stage 1, the instrument was designed, and it is psychometrically evaluated in Stage 2. To establish content validity, two expert panels independently reviewed each item for appropriateness and relevance. Psychometric evaluation included construct validity and stability testing of the instrument. The questionnaire was administered to a convenience sample of 200 people aged more than 65 years, living independently in the community; reliability and stability were assessed by test/retest procedures, with a 1‐week interval. Mean knowledge scores at ‘test’ were 11.54/20 (95% CI = 11.10‐11.99, SD: 3.07), and ‘retest’ was 12.24 (95% CI = 11.81‐12.66, SD: 2.93). For knowledge, correlation between the test/retest score was positive (r=. 60), attitude section‐inter‐item correlations ranged from r = −.31 to r = .57 (mean intraclass correlation coefficient of r = .42), and internal consistency for the retest was the same as the test (α = .41 for the eight items). For health behaviours, individual inter‐item correlations for test items ranged from r = −.21 to r = .41 for the 13 standardised items. Psychometric testing of the KPUP in a sample of older persons in the community provided moderate internal consistency and general high test‐retest stability.     

Evaluation of mortality risk factors in diabetic foot infections

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.     

Postoperative assessment of nosocomial transmission of COVID-19 after robotic surgical procedures during the pandemic

ObjectivesTo assess potential nosocomial coronavirus disease-2019 (COVID-19) transmission in patients who underwent robot-assisted laparoscopic procedures during the pandemic.Material and methodsProspective study in patients undergoing robot-assisted laparoscopy in urology or gynaecology within 2 academic hospitals. Patients underwent local preoperative COVID-19 screening using a symptoms questionnaire. Patients with suspicious screening underwent coronavirus real time-polymerase chain reaction (RT-PCR) and were excluded from robotic surgery if positive. Patients with symptoms postsurgery were systematically tested for coronavirus by RT-PCR. One-month postsurgery, all patients had a telephone consultation to evaluate COVID-19 symptoms.ResultsSixty-eight patients underwent robotic surgery during the study period (median age: 63-years [IQR: 53–70], 1.8 male: female ratio). Oncology was the main indication for robotic surgery (n = 62, 91.2%) and 26 patients (38.2%) received a chest CT-scan prior to surgery. Eleven patients (16.2%) were symptomatic after surgery of whom only 1 tested positive for coronavirus by RT-PCR (1.5%) and was transferred to COVID-19 unit with no life-threatening condition. No attending surgeon was diagnosed with COVID-19 during the study.ConclusionsRobot-assisted laparoscopic surgery seemed safe in the era of COVID-19 as long as all recommended precautions are followed. The rate of nosocomial COVID-19 transmission was extremely low despite the fact that we only used RT-PCR testing in symptomatic patients during the preoperative work-up. Larger cohort is needed to validate these results.     

QT dispersion predicts mortality and correlates with both coronary artery calcification and atherosclerosis in hemodialysis patients

Purpose

QT dispersion (QTd) was shown to be an independent predictor of mortality in hemodialysis (HD) patients. It may be hypothesized that coronary artery calcification is related to QTd in HD patients because widespread calcification may also involve the cardiac conducting system in these patients. In this study, we aimed to investigate the relationships of corrected QTd (QTcd) with coronary artery calcification score (CACS), carotid plaque score (CPS) and possible influence of these parameters on survival of HD patients.

Methods

Seventy-two HD patients (33 male, 39 female) were enrolled into the study. Mean age of the patients was 44 ± 12 years. Mean follow-up duration was 77 ± 24 months. CACS was determined by computed tomography. QTcd values were calculated as the difference of maximum and minimum QT intervals. Left ventricular mass index (LVMI) and CPS were measured by echocardiography.

Results

QTcd was significantly correlated with CACS (r = 0.233, p = 0.049), CPS (r = 0.354, p = 0.003) and LVMI (p = 0.011, r = 0.299). CPS was found to be significantly higher in the group with high QTcd (>60 ms) [2 (1–4) versus 0 (0–1), p = 0.02]. CACS was significantly correlated with age (r = 0.44, p < 0.001), LVMI (r = 0.52, p < 0.001) and CPS (r = 0.32, p = 0.003). In Kaplan–Meier analysis, survival of patients with high QTcd was significantly lower than the patients with low QTcd. In Cox regression analysis for predicting mortality, age, serum albumin and QTcd were found to be the independent predictors of mortality.

Conclusions

QTcd independently predicted mortality, and it was significantly associated with coronary artery calcification, left ventricular hypertrophy and atherosclerosis in HD patients.     

Is multiple sclerosis a risk factor for atherosclerosis?

BackgroundMultiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system. We aimed to discuss possible predisposing factors to atherosclerosis such as carotid intima-media thickness (CIMT) and high-sensitivity C-reactive protein (Hs-CRP) levels in MS.MethodsThirty-five ambulatory patients with relapsing-remitting MS (RRMS) (22 females and 13 males) and 34 healthy controls (21 females and 13 males) with similar demographic variables were included. Blood cell counts, cholesterol levels, vitamin D and B12, Hs-CRP levels, body mass index (BMI), history of smoking, and CIMT of both groups, Expanded Disability Status Scale (EDSS) scores, and disease duration of patients were recorded. Patients with a history of other vascular diseases such as hypertension, diabetes mellitus, peripheral artery disease, and acute relapses were excluded.ResultsSixty-nine participants were included. The mean age of the study population was 35.8 ± 7.1 years. Right CIMT was significantly greater in the patient population (P < 0.001). Spearman's correlation coefficient between age and right CIMT was r = 0.41, P = 0.01. When we compared the Hs-CRP with a cut-off value of ≤ 3, the right, left, and mean CIMT levels were not statistically significant (P = 0.17; P = 0.22; P = 0.15). The mean serum vitamin D levels were higher in the patient group and this was statistically significant (P < 0.001). The statistically significant factors identified with univariate analysis with P < 0.2 were further entered into multivariate modelling.ConclusionCIMT seems to be affected in patients with MS by means of the disease itself and age. Thus, CIMT might reflect the predisposition to subclinical atherosclerosis more than Hs-CRP. Further investigation in a large MS population is still needed.     

What is involved and what is necessary for complex linguistic and nonlinguistic auditory processing: evidence from functional magnetic resonance imaging and lesion data

We used functional magnetic resonance imaging (fMRI) in conjunction with a voxel-based approach to lesion symptom mapping to quantitatively evaluate the similarities and differences between brain areas involved in language and environmental sound comprehension. In general, we found that language and environmental sounds recruit highly overlapping cortical regions, with cross-domain differences being graded rather than absolute. Within language-based regions of interest, we found that in the left hemisphere, language and environmental sound stimuli evoked very similar volumes of activation, whereas in the right hemisphere, there was greater activation for environmental sound stimuli. Finally, lesion symptom maps of aphasic patients based on environmental sounds or linguistic deficits [Saygin, A. P., Dick, F., Wilson, S. W., Dronkers, N. F., & Bates, E. Shared neural resources for processing language and environmental sounds: Evidence from aphasia. Brain, 126, 928-945, 2003] were generally predictive of the extent of blood oxygenation level dependent fMRI activation across these regions for sounds and linguistic stimuli in young healthy subjects.     

Insights into major facilitator superfamily domain-containing protein-2a (Mfsd2a) in physiology and pathophysiology. What do we know so far?

Major facilitator superfamily domain-containing protein-2a (Mfsd2a) which was considered as an orphan transporter has recently gained attention for its regulatory role in the maintenance of proper functioning of the blood–brain barrier. Besides the major role of Mfsd2a in maintaining the barrier function, increasing evidence has emerged with regard to the contributions of Mfsd2a to various biological processes such as transport, cell fusion, cell cycle, inflammation and regeneration, managing tumor growth, functioning of other organs with barrier functions or responses to injury. The purpose of this article is to review the different roles of Mfsd2a and its involvement in the physiological and pathophysiological processes primarily in the central nervous system and throughout the mammalian body under the lights of the current literature.