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Chromosome-level genome construction shows homologous chromosomes along with recombination in asexual rotifer Adineta vaga.
BACKGROUND  Failure to complete recommended diagnostic tests may increase the risk of diagnostic errors. OBJECTIVES  The aim of this study is to develop and evaluate an electronic monitoring tool that notifies the responsible clinician of incomplete imaging tests for their ambulatory patients. METHODS  A results notification workflow engine was created at an academic medical center. It identified future appointments for imaging studies and notified the ordering physician of incomplete tests by secure email. To assess the impact of the intervention, the project team surveyed participating physicians and measured test completion rates within 90 days of the scheduled appointment. Analyses compared test completion rates among patients of intervention and usual care clinicians at baseline and follow-up. A multivariate logistic regression model was used to control for secular trends and differences between cohorts. RESULTS  A total of 725 patients of 16 intervention physicians had 1,016 delayed imaging studies; 2,0ons to reduce the risk of delayed diagnoses, particularly in vulnerable patient populations. Georg Thieme Verlag KG Stuttgart · New York.OBJECTIVE  This study aimed to compare attitudes of providers regarding perinatal management and outcomes for periviable newborns of caregivers at centers with higher resuscitation (HR) and lower resuscitation (LR) rates in the delivery room. STUDY DESIGN  All obstetric and neonatal clinical providers at six U.S. sites were invited to complete an anonymous online survey. Survey responses were compared with clinical data collected from a previous retrospective study comparing centers' rates of planned resuscitation. Responses were analyzed by multivariable logistic and linear regression to assess how HR versus LR center respondents differed in management preferences and outcome predictions. RESULTS  Paradoxically, HR versus LR respondents, when adjusting for other variables, were less likely to respond that interventions such as antenatal steroids (odds ratio 0.61, 95% confidence interval [CI] 0.42-0.88, p  less then  0.009) and resuscitation (OR 0.59, 95% CI 0.44-0.78, p  less then  0.001) should be given at 22 weeks. HR versus LR respondents also reported lower likelihood of survival and acceptable quality of life (OR 0.7, 95% CI 0.53-0.93, p = 0.012) at 23 weeks. CONCLUSION  Despite higher rates of planned resuscitation at 22 and 23 weeks, steroid usage and survival rates did not differ between HR and LR sites. In this subsequent survey, respondents from HR centers had a less favorable outlook on interventions for these newborns than those at LR centers, suggesting that instead of driving practices, attitudes may be more closely associated with experiences of clinical outcomes. learn more Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.Hot water epilepsy (HWE) is a subtype of reflex epilepsy in which seizures are triggered by the head being immersed in hot water. Hot water or bathing epilepsy is the type of reflex epilepsy most frequently encountered in our clinic. We describe our patients with HWE and also discuss the clinical features, therapeutic approaches, and prognosis. Eleven patients (10 boys, 1 girl), aged 12 months to 13 years, admitted to the pediatric neurology clinic between January 2018 and August 2019, and diagnosed with HWE or bathing epilepsy based on International League Against Epilepsy (ILAE)-2017, were followed up prospectively for ∼18 months. Patients' clinical and electroencephalography (EEG) findings and treatment details were noted. All 11 patients' seizures were triggered by hot water. Age at first seizure was between 2 months and 12 years. Seizure types were generalized motor seizures, absence, and atonic. EEG was normal in two patients, but nine patients had epileptiform discharges. Magnetic resonance imaging of the brain was performed and reported as normal (except in one case). Histories of prematurity were present in two patients, unprovoked seizures in one, and low birth weight and depressed birth in the other. Patients with HWE have normal neuromuscular development and neurological examination results, together with prophylaxis or seizure control with a single antiepileptic drug, suggesting that it is a self-limited reflex epilepsy. Georg Thieme Verlag KG Stuttgart · New York.Children and teenagers with migraine are often advised to live a life of perfect balance-to sleep regularly and well, to eat breakfast each day, to drink plenty of water, and to exercise religiously. The logic is that doing so will decrease their migraine frequency. The corollary that follows is that failing to follow such advice will result in the patient continuing to experience migraine at its current frequency. This opens the door to potentially blaming the patients for their migraine and contributing to migraine stigma. This article reviews the current state of the evidence for each of these behavioral interventions for migraine prevention, and provides the clinician with practical advice for counseling patients. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.In the past decade, the number of genes linked to neuromuscular diseases of childhood has expanded dramatically, and this genetic information is forming the basis for gene-specific and even mutation-specific therapies. At the forefront of these advances are the two recently approved treatments for spinal muscular atrophy one, an antisense oligonucleotide that modifies splicing of the SMN2 gene, and, the other, a gene therapy vector that delivers the SMN1 gene to motor neurons, both of which are allowing patients to acquire developmental milestones previously unseen in this fatal disease. This review highlights these advances and emerging targeted therapies for Duchenne muscular dystrophy and centronuclear myopathy, while also covering enzyme replacement therapy and small molecule-based targeted therapies for conditions such as Pompe's disease and congenital myasthenic syndromes. With these and other newer techniques for targeted correction of genetic defects, such as CRISPR/Cas9, there is now hope that treatments for many more genetic diseases of the nervous system will follow in the near future.
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