Bynumjohnsen6710
Only a small proportion of schizophrenia patients present with catatonic symptoms. Imaging studies suggest that brain motor circuits are involved in the underlying pathology of catatonia. However, data about diffusivity dysregulation of these circuits in catatonic schizophrenia are scarce.
To assess the involvement of brain motor circuits in schizophrenia patients with catatonia.
Diffusion tensor imaging (DTI) was used to measure white matter signals in selected brain regions linked to motor circuits. Relevant DTI data of seven catatonic schizophrenia patients were compared to those of seven non-catatonic schizophrenia patients, matched for sex, age, and education level.
Significantly elevated fractional anisotropy values were found in the splenium of the corpus callosum, the right peduncle of the cerebellum, and the right internal capsule of the schizophrenia patients with catatonia compared to those without catatonia. This finding showed altered diffusivity in selected motor-related brain areas.
Catatonic schizophrenia is associated with dysregulation of the connectivity in specific motoric brain regions and corresponding circuits. Future DTI studies are needed to address the neural correlates of motor abnormalities in schizophrenia-related catatonia during the acute and remitted state of the illness to identify the specific pathophysiology of this disorder.
Catatonic schizophrenia is associated with dysregulation of the connectivity in specific motoric brain regions and corresponding circuits. Future DTI studies are needed to address the neural correlates of motor abnormalities in schizophrenia-related catatonia during the acute and remitted state of the illness to identify the specific pathophysiology of this disorder.
Cystic periventricular leukomalacia (cPVL) is a strong indicator of subsequent motor and developmental impairments in premature infants. There is a paucity of publications on biomarkers of cPVL.
To determine C-reactive protein (CRP) levels during the first week of life of preterm infants who later developed cPVL and to identify the association between CRP levels with perinatal factors.
We retrospectively included infants ≤ 32 weeks gestation and/or birth weights ≤ 1500 grams; 17 with a cranial ultrasound diagnosis of cPVL and 54 with normal ultrasounds. Serum CRP levels were measured during days 1-7 (CRP1-7d) of life and subdivided into two timing groups days 1-3 (CRP1-3d) and days 4-7 (CRP4-7d).
The cPVL group had significantly higher mean CRP4-7d levels compared to controls (12.75 ± 21.2 vs. 2.23 ± 3.1, respectively, P = 0.03), while CRP1-3d levels were similar. CRP1-7d levels were significantly correlated with maximal fraction of inspired oxygen during the first 12 hours of life (FiO2-12h, r = 0.51.
Patients with severe coronavirus disease-2019 (COVID-19) are susceptible to superimposed infections.
To describe COVID-19 patients who presented with complications due to Candida bloodstream co-infection (candidemia) and their outcome in a single center in northern Israel (Emek Medical Center) during the second outbreak of COVID-19 in Israel (15 June 2020 to 20 September 2020).
A retrospective study of COVID-19 patients presenting with candidemia was conducted, including clinical and laboratory data. The incidence of candidemia among hospitalized COVID-19 patients was compared to a historical cohort of non-COVID-19 controls.
Three COVID-19 patients complicated with candidemia were documented. All three patients died shortly after the detection of candidemia. Three different Candida sp. were isolated from the blood cultures C. albicans, C. parapsilosis, and C. glabrata. The incidence of candidemia among COVID-19 patients was 0.679 episodes per 1000 hospital days.
Our small sample suggests a much higher incidence of candidemia among COVID-19 patients compared to a historical cohort of non-COVID-19 controls. All clinicians treating COVID-19 patients in GICU should be aware of this complication.
Our small sample suggests a much higher incidence of candidemia among COVID-19 patients compared to a historical cohort of non-COVID-19 controls. All clinicians treating COVID-19 patients in GICU should be aware of this complication.
Israel has experienced three waves of coronavirus disease-2019 (COVID-19) infection since late February 2020, with lockdown and other measures employed to contain infection rates. In cooperation with the Israel Ministry of Health, serological testing was conducted by all four health maintenance organizations (HMO) in order to estimate national infection rates and the proportion of previously undetected disease.
To estimate the proportion of the population that was seropositive, identify factors associated with seropositive outcome, and approximate the proportion of residents that were asymptomatic.
Seroconversion rates (IgG) were measured in a representative sample of over 17,000 members of Maccabi Healthcare Services. Direct standardization was used to estimate the seropositive rates for COVID-19 infection for members of the HMO. Rates were adjusted for sensitivity and specificity of the testing products used. In addition to blood sampling, respondents were asked to complete a digital survey regarding potential exposures and symptoms experienced.
It was estimated that 1.9% of the adult HMO population was seropositive 4 months after the first infected person was identified in the country. Seroconversion was associated with travel abroad and exposure to infected individuals. Loss of smell and taste, fever, cough, and fatigue are associated with infection. Of those found to be seropositive for COVID-19, 160 (59%) had a prior negative polymerase chain reaction (PCR) or no PCR test at all.
Adult seropositive rates of infection were low relative to other countries. The findings suggest that early initiatives to limit infection entry and spread were effective.
Adult seropositive rates of infection were low relative to other countries. The findings suggest that early initiatives to limit infection entry and spread were effective.
Pathogenic variants in MYH11 are associated with either heritable thoracic aortic aneurysm and dissection (HTAAD), patent ductus arteriosus (PDA) syndrome, or megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS).
We report a family referred for molecular diagnosis with HTAAD/PDA phenotype in which we found a variant at a non-conserved position of the 5' donor splice site of intron 32 of MYH11 potentially altering splicing (NM_002474.3c.4578+3A>C). Although its cosegregation with disease was observed, it remained of unknown significance. Later, aortic surgery in the proband gave us the opportunity to perform a transcript analysis. This showed a skipping of the exon 32, an RNA defect previously reported to be translated to an in-frame loss of 71 amino acids and a dominant-negative effect in the smooth muscle myosin rod. This RNA defect is also reported in 3 other HTAAD/PDA pedigrees.
This report confirms that among rare variants in MYH11, skipping of exon 32 is recurrent. This finding is of particular interest to establish complex genotype-phenotype correlations where some alleles are associated with autosomal dominant HTAAD/PDA, while others result in recessive or dominant visceral myopathies.
This report confirms that among rare variants in MYH11, skipping of exon 32 is recurrent. This finding is of particular interest to establish complex genotype-phenotype correlations where some alleles are associated with autosomal dominant HTAAD/PDA, while others result in recessive or dominant visceral myopathies.
With the onset of the COVID-19 pandemic, many experts expected that asthma-associated morbidity because of SARS-CoV-2 infection would dramatically increase. However, some studies suggested that there was no apparent increasing in asthma related morbidity in children with asthma, it is even possible children may have improved outcomes. In order to understand the relationship between the COVID-19 pandemic and asthma outcomes, we performed this article.
We searched PubMed, Embase, and Cochrane Library to find literature from December 2019 to June 2021 related to Covid-19 and children's asthma control, among which results such as abstracts, comments, letters, reviews and case reports were excluded. The level of asthma control during the COVID-19 pandemic was synthesized and discussed by outcomes of asthma exacerbation, emergency room visit, asthma admission and c-ACT.
A total of 22159 subjects were included in 10 studies. Random effect model was used to account for the data. Compared to the same period befoerved.
Collection of patient-reported data has been demonstrated to improve asthma outcomes. One method to collect information is through the electronic patient portal. In practice, patient portal use in pediatrics and, specifically for asthma management, has had low uptake.
To understand parental/caregiver experience of pediatric asthma care management, and perceptions of the use of patient portal questionnaires before the clinic visit.
We conducted semi-structured interviews with caregivers of children 5-11 years old with asthma in the University of California, Los Angeles (UCLA) Health System. We included patient portal "users" (n = 20) and "non-users" (n = 5). Interview questions were developed based on clinic visit workflow with a focus on perceived usefulness and ease of use to complete pediatric asthma questionnaires in the patient portal before the visit. ABT-199 Interviews were audio-recorded, transcribed, and codes were generated from themes using constant comparative analysis.
We identified eight themes related to caregiver-physician communication, perception of portal questionnaires, facilitators, and barriers to portal questionnaire use. A salient finding was that caregivers considered the portal questionnaire as a tool to be integrated into the visit to facilitate a conversation about their child's asthma. Caregiver portal-based questionnaire use was more likely if the ongoing data entered was accessible to caregivers to track and update, and if caregivers were reassured the clinicians would use questionnaire responses during the visit.
Caregivers of children with asthma are more likely to complete a patient portal intake questionnaire before the visit if they trust their responses will be used during the visit to inform care.
Caregivers of children with asthma are more likely to complete a patient portal intake questionnaire before the visit if they trust their responses will be used during the visit to inform care.Airway clearance has been an integral part of cystic fibrosis (CF) care for almost as long as CF has been identified as a condition. From diagnosis as a neonate through to end-of-life care, airway clearance is an everyday aspect of life, adding a considerable treatment burden to the lives of people with CF. There are many different techniques used for airway clearance which have evolved over time with an aim to improve effectiveness, support adherence and, more recently, to consider the impact of burden. A popular thought is whether airway clearance could be replaced by exercise. With new precision therapies in the form of CFTR modulators available, the CF landscape is rapidly changing, raising the question of whether certain treatments are needed at all. Depending on factors such as CFTR mutation, age, and pre-existing lung damage before starting a CFTR modulator, individuals with CF may need different levels of intensity and type of maintenance treatment. Precision medicine is likely to lead to the need for increased precision and individualized management around other maintenance therapies such as airway clearance.