Rosendahlaagesen1845

The aim of this study was to assess serum vitamin D levels and related factors in children with cerebral palsy (CP).

One hundred and nineteen children with CP between the ages of 1 year to 10 years 9 months who were admitted to the children's inpatient rehabilitation unit of a tertiary rehabilitation hospital between January 1, 2017, and December 31, 2018, were included in this study. Demographic and clinical characteristics were obtained from the patient files. CP types and serum 25 hydroxyvitamin D (25OHD) levels were recorded. Gross Motor Function Classification System (GMFCS) was used to assess the functional level.

Mean age was 5.1±2.9 years. Forty-two (35.3%) were girls, 105 (88.3%) were spastic, and 14 (11.7%) were ataxic and mixed type CP. Mean GMFCS level was 4 (IQR2). Thirty-one (26.1%) were getting extra liquid feed while the rest were eating a normal diet. Mean serum 25OHD level was 27.4±15.7 (3-79) ng/mL. Vitamin D levels were normal in 68 children (57.1%), whereas 36 (30.3%) had vitamin D oups in terms of low vitamin D.

Human T-cell leukemia virus type 1 (HTLV-1) associated myelopathy (HAM) can damage the spinal cord, causing paraplegia, spasticity, and gait disturbance. Currently, there are few effective treatments.

We investigated the efficacy of repetitive transcranial magnetic stimulation (rTMS) on gait disturbance in patients with HAM.

rTMS at 10 Hz was applied to HAM patients aged 30-80 years with an Osame's Motor Disability Score between 3 and 6. The stimulation site on the skull was the position where motor evoked potentials were most evidently elicited and leg motor areas were stimulated. Resting motor thresholds (minimum stimulation to induce motor evoked potential) were also determined. Each participant underwent 10 sessions of 2400 stimuli. Clinical measurements, including walking speed and stride length, were obtained.

From 119 patients with HAM recruited, 12 were included in the rTMS group and 18 who did not undergo rTMS comprised the control group. rTMS significantly improved walking speed and stride length compared to controls. Particularly, resting motor thresholds decreased after 10 sessions of rTMS.

rTMS improves walking speed in patients with HAM and may be an effective alternative for treating gait disturbance in patients with HAM.

rTMS improves walking speed in patients with HAM and may be an effective alternative for treating gait disturbance in patients with HAM.Gaseous distension of the abdomen from the use of continuous positive airway pressure (CPAP) in the preterm population is of increasing concern for its unintended consequences. Methods to treat and prevent CPAP belly deserve further investigation. An intervention to provide abdominal support to address CPAP belly is presented in these case studies.Severe acute respiratory coronavirus 2 (SARS-CoV-2) is primarily transmitted via respiratory droplet or aerosol route. However, there is mounting evidence for intrauterine transmission. We report on a late preterm infant with suspected intrauterine acquisition of SARS-CoV-2 who experienced birth depression, hypoxic ischemic encephalopathy, multisystem organ involvement, and late onset COVID-19 pneumonia [22].

Neonatal sepsis is a major cause of morbidity and mortality among neonates. Nod-like receptor family pyrin domain-containing 3 (NLRP3) inflammasome is a core element for innate immune protection. The study aims to estimate the expression of NLRP3 inflammasome in full term newborn infants who suffer from late onset sepsis, in order to assess its diagnostic value.

This case-control study was conducted in NICU. 40 newborns with late onset sepsis, and 40 control neonates were included. The analysis of NLRP3 inflammasome was done by ELISA.

There was a significant elevation of NLRP3 inflammasome in the serum of neonates with late onset sepsis group than the control group, P values were < 0.001, and the best cut off value of NLRP3 to detect late onset septic was > 3 ng/ml with sensitivity of 92.5% and specificity of 97.5%. Receiver operating characteristic curve showed that the best cut off point of NLRP3 to predict mortality in cases group was > 7.29 with sensitivity of 75.0%, specificity of 91.67%, PPV of 50.0%, NPV of 97.1% and total accuracy of 0.84%. n-SOFA scoring system increased significantly among LOS group and there was positive correlation with NLRP 3 inflammasome, P < 0.012.

NLRP3 inflammasome can be used for the diagnosis of late onset neonatal sepsis. The increase of its values was not affected by gender, birth weight, gestational age and postnatal age. It was the novel sepsis markers that were not fully studied in neonatal population. The prognostic values may need further studies.

NLRP3 inflammasome can be used for the diagnosis of late onset neonatal sepsis. see more The increase of its values was not affected by gender, birth weight, gestational age and postnatal age. It was the novel sepsis markers that were not fully studied in neonatal population. The prognostic values may need further studies.Emery-Dreifuss Muscular Dystrophy (EDMD) is an early-onset, slowly-progressive group of myopathies, presenting with joint contractures, muscle weakness and cardiac abnormalities. Variants in the EMD gene cause an X-linked recessive form (EDMD1). The scarce EDMD1 muscle MRI accounts in the literature describe fatty replacement of posterior thigh and leg muscles.We report a 22-year-old patient with early-onset bilateral joint contractures, slowly progressive muscle weakness and minor cardiac rhythm abnormalities. A novel loss-of-function variant of EMD was identified and deemed probably pathogenic in the absence of emerin detection by immunofluorescence and Western Blot. MRI revealed fatty replacement of the lumbar spinal erectors and the posterior compartment of lower limbs. Interestingly, Short Tau Inversion Recovery (STIR) sequences showed a heterogenous hyper signal on the vasti, hamstrings and left lateral gastrocnemius muscles.Oedema-like abnormalities were previously reported in early stages of other muscular dystrophies, preceding fatty replacement and muscle atrophy, but not in EDMD1 patients. We hypothesize that these oedema-like changes may be a marker of early muscle pathology in EDMD1. Further studies focusing on these abnormalities in the early phase of EDMD1 are required to test our hypothesis.

Progressive equinovarus deformities are common in people with Duchenne Muscular Dystrophy (DMD); they may provoke pain, pressure spots, cause problems with wearing footwear, and may lead to an unstable sitting position.

Explore indications and compare complications and long-term outcomes after soft tissue and osseous interventions in people with DMD.

Retrospective, monocenter, longitudinal study. Data on indications, equinus and varus deformity before and after surgery, wound healing problems, 'pain', edema, and long-term outcomes were collected from medical files. Soft tissue interventions were compared with osseous interventions.

From a series of 18 patients, data on 32 surgical interventions and 169 follow-up visits were analyzed. 'Footrest placement' was the most frequent surgical indication, followed by pain. Osseous interventions were performed in older patients with rigid deformities. Directly after surgery remaining deformities were reported after soft tissue interventions (18 %), no remainingnterventions appear to be superior to osseous corrections, considering the varus recurrence period and complications, and may be considered when feet are still (partly) correctable. Pain management and edema prevention should be anticipated before surgery. Future research on patient reported outcomes as well as evaluating the outcome of the initial indication is needed to further identify benefits.Limited evidence exists on real-world adherence to nusinersen for the treatment of spinal muscular atrophy (SMA). Data are presented from a multi-site retrospective chart review of 86 adults with SMA initiating nusinersen at nine US centers between January 2017 and February 2019. Seventy-nine (92%) adults remained on nusinersen during the study; 454 (92%) of 493 total nusinersen doses were received on time. Fifty-eight (67%) adults received all nusinersen doses on time. The majority of patients with at least one nonadherent dose resumed nusinersen on time. Most patients followed the dosing schedule across the loading and maintenance dose periods.

While sleep disturbances appear to be risk factors in Alzheimer's disease (AD) progression, information such as the prevalence across dementia severity and the influence on the trajectory of cognitive decline is unclear.

We evaluate the hypotheses that the prevalence of insomnia differs by cognitive impairment, that sleep disturbances track with AD biomarkers, and that longitudinal changes in sleep disorders affect cognition.

We used the National Alzheimer's Coordinating Center Database to determine the prevalence of clinician-identified insomnia and nighttime behaviors in normal, mild cognitive impairment (MCI), and demented individuals. We evaluated mean Montreal Cognitive Assessment (MoCA) scores, hippocampal volumes (HV), and CSF phosphorylated tauamyloid-β ratios at first visit using analysis of variance with age as a covariate. In longitudinal evaluations, we assessed changes in MoCA scores and HV in insomnia and nighttime behaviors between the first and last visits.

Prevalence of insomnia was 14%, 16%, and 11% for normal, MCI, and dementia groups. Prevalence of nighttime behaviors was 14%, 21%, and 29% respectively. Insomnia patients had higher MoCA scores, larger HV, and lower pTauBeta than individuals without insomnia, indicating less neurodegeneration. In contrast, nighttime behaviors were associated with worse cognition, smaller HV, and higher pTauBeta. Similar findings were seen between longitudinal associations of sleep disorders and cognition and HV.

Our findings suggest that insomnia is unreliably recognized in patients with cognitive impairment. Nighttime behaviors may better indicate the presence of sleep disturbances and have diagnostic specificity in AD over insomnia.

Our findings suggest that insomnia is unreliably recognized in patients with cognitive impairment. Nighttime behaviors may better indicate the presence of sleep disturbances and have diagnostic specificity in AD over insomnia.

To reduce the increasing societal and financial burden of Alzheimer's disease and related dementias (ADRD), prevention is critical. Even small improvements of the modifiable dementia risk factors on the individual level have the potential to lead to a substantial reduction of dementia cases at the population level.

To determine if pattern(s) of functional decline in midlife associate with late-onset ADRD years later.

Using a longitudinal study of adults aged 51-59 years in 1998 without symptoms of ADRD by 2002 and followed them from 2002 to 2016 (n = 5404). The outcome was incident ADRD identified by the Lange-Weir algorithm, death, or alive with no ADRD. We used cluster analysis to identify patterns of functional impairment at baseline and multinomial regression to assess their association with future ADRD.

Three groups of adults with differing patterns of functional impairment were at greater risk of future ADRD. Difficulty with climbing one flight of stairs was observed in all adults in two of these groups.