We aimed to determine whether acute disseminated encephalomyelitis (ADEM) diagnosis in children is delayed, and if so, to identify the clinical risk factors of delayed diagnosis. Standardised data ...were collected from children with ADEM from 2003 to 2020. Overall diagnostic delay (time between symptom onset and ADEM diagnosis), physicians' delay (between the first medical visit and ADEM diagnosis), and patients' delay (between symptom onset and the first medical visit) were analysed. Thirty ADEM patients were identified, including 16 (54%) with neurological deficits at discharge. Overall, physicians', and patients' delays were 9 (interquartile range IQR 6-20.5), 5.5 (IQR 3-14), and 4 (IQR 2-8) days, respectively. Overall delay was significantly associated with physicians' delay, but not with patients' delay. There were 61 misdiagnoses among 25 (83%) patients, while 5 (17%) were diagnosed correctly at the first visit. The misdiagnoses of common respiratory and gastrointestinal infection and aseptic meningitis were associated with overall and/or physicians' delay. Later onset of specific neurological features suggestive of ADEM was associated with all three diagnostic delays. A unique diagnostic odyssey exists in ADEM. Several clinical risk factors were associated with the diagnostic delay.
Acute necrotizing encephalopathy (ANE) is a pediatric neurological disease, presumably caused by cytokine storms, with a poor prognosis. Immunomodulatory therapy, including therapeutic plasma ...exchange (TPE), could be an effective treatment.
Two patients with influenza-associated ANE were treated. The ANE severity scores were 3 and 8 in case 1 (a 3-y-old boy) and case 2 (a 7-y-old boy), respectively. In case 1, intravenous methylprednisolone and TPE were initiated at 8 and 16 h, respectively, after the onset of impaired consciousness. In case 2, multiple organ failure and septic shock persisted even after infusion of fluids and inotropic agents. Intravenous methylprednisolone and TPE were started at 5 and 9 h, respectively, after the onset of impaired consciousness, which improved the inotrope-refractory septic shock. Patient 1 and 2 achieved complete neurological recovery within 4 weeks and after 3 months, respectively.
In both patients, cytokine levels were serially measured. There were increased serum interleukin (IL)-6 and IL-10 levels in both patients; patient 1 showed increased IL-6 levels in the initial cerebrospinal fluid sample. There was a post-treatment decrease in serum IL-6 levels in both cases.
Early intensive immunomodulatory therapy with TPE may improve neurological outcomes in pediatric influenza-associated ANE. Further studies are required to establish the efficacy of TPE for ANE.
Probst bundles are selectively seen in patients with agenesis of the corpus callosum (CC) and are thought to be homologous to the CC. We herein report a 19-year-old woman with partial agenesis of the ...CC. She developed acute encephalopathy during Bordetella pertussis infection. Brain magnetic resonance imaging (MRI) showed restricted diffusion of bilateral Probst bundles. She was treated with anti-epileptics and azithromycin and recovered with no neurological sequelae. Follow-up MRI showed the resolution of the diffusion abnormality. The characteristics of diffusion-weighted images on brain MRI and clinical course mimicked those in cases of clinically mild encephalopathy/encephalitis with reversible splenial lesion.
Recent advances in genome editing technology are accompanied by increasing public expectations on its potential clinical application, but there are still scientific, ethical, and social ...considerations that require resolution. In Japan, discussions pertaining to the clinical use of genome editing in human embryos are underway. However, understanding of the public’s sentiment and attitude towards this technology is limited which is important to help guide the debate for prioritizing policies and regulatory necessities. Thus, we conducted a cross-sectional study and administered an online questionnaire across three stakeholder groups: the general public, patients and their families, and health care providers. We received responses from a total of 3,511 individuals, and the attitudes were summarized and compared among the stakeholders. Based on the distribution of responses, health care providers tended to be cautious and reluctant about the clinical use of genome editing, while patients and families appeared supportive and positive. The majority of the participants were against the use of genome editing for enhancement purposes. Participants expressed the view that clinical use may be acceptable when genome editing is the fundamental treatment, the risks are negligible, and the safety of the technology is demonstrated in human embryos. Our findings suggest differences in attitudes toward the clinical use of genome editing across stakeholder groups. Taking into account the diversity of the public’s awareness and incorporating the opinion of the population is important. Further information dissemination and educational efforts are needed to support the formation of the public’s opinion.
Alterations in the LMNA gene cause a wide spectrum of diseases collectively called laminopathies. LMNA-associated congenital muscular dystrophy is a form of laminopathy, which usually causes ...infantile onset of muscle weakness, predominantly in the cervical-axial muscles, and motor developmental retardation. Cardiac symptoms during the first decade of life are rare. We report a case of LMNA-associated congenital muscular dystrophy in which the patient did not achieve head control and experienced facial muscle weakness. Cardiac dysrhythmias were observed at 5 years with development of dilated cardiomyopathy and ischemic strokes at 7 years. Despite intensive medical intervention, he died suddenly at 9 years. This report broadens the spectrum of phenotypes of this disorder with the most severe symptoms during the first decade of life. Our case underscores the need for early genetic testing for LMNA in patients with congenital muscular dystrophy to screen for cardiac manifestations and intervene as necessary.
Although the mechanisms underlying the spatial pattern formation of sensory maps have been extensively investigated, those triggering sensory map formation during development are largely unknown. ...Here we show that the birth of pups instructively and selectively regulates the initiation of barrel formation in the somatosensory cortex by reducing serotonin concentration. We found that preterm birth accelerated barrel formation, whereas it did not affect either barreloid formation or barrel structural plasticity. We also found that serotonin was selectively reduced soon after birth and that the reduction of serotonin was triggered by birth. The reduction of serotonin was necessary and sufficient for the effect of birth on barrel formation. Interestingly, the regulatory mechanisms described here were also found to regulate eye-specific segregation in the visual system, suggesting that they are utilized in various brain regions. Our results shed light on roles of birth and serotonin in sensory map formation.
•The birth of pups regulates initiation of barrel formation in cerebral cortex•The birth of pups leads to the reduction of 5-HT•5-HT reduction is necessary and sufficient for birth’s effect on barrel formation•Birth and 5-HT also regulate eye-specific segregation in the visual thalamus
Although birth is the most drastic environmental change in the life of mammals, little is known about its roles in neural development. Toda et al. show that the birth of pups instructively regulates the initiation of sensory map formation in the somatosensory and visual systems by reducing serotonin concentration.
It has been of interest whether and when the rearrangement of neuronal circuits can be induced after projection patterns are formed during development. Earlier studies using cats reported that the ...rearrangement of retinogeniculate projections could be induced even after eye-specific segregation has occurred, but detailed and quantitative characterization of this rearrangement has been lacking. Here we delineate the structural changes of retinogeniculate projections in the C57BL/6 mouse in response to monocular enucleation (ME) after eye-specific segregation. When ME was performed after eye-specific segregation, rearrangement of retinogeniculate axons in the dorsal lateral geniculate nucleus (dLGN) was observed within 5 days. Although this rearrangement was observed both along the dorsomedial-ventrolateral and outer-inner axes in the dLGN, it occurred more rapidly along the outer-inner axis. We also examined the critical period for this rearrangement and found that the rearrangement became almost absent by the beginning of the critical period for ocular dominance plasticity in the primary visual cortex. Taken together, our findings serve as a framework for the assessment of phenotypes of genetically altered mouse strains as well as provide insights into the mechanisms underlying the rearrangement of retinogeniculate projections.
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Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
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