480 research outputs found
Medical clowns: dream doctors as an important team member in the treatment of young children with juvenile idiopathic arthritis
hypomyelination and congenital cataract neuroimaging features of a novel inherited white matter disorder
BACKGROUND AND PURPOSE: Hypomyelination and congenital cataract (HCC) is an autosomal recessive white matter disease caused by deficiency of hyccin, a membrane protein implicated in both central and peripheral myelination. We aimed to describe the neuroimaging features of this novel entity. MATERIALS AND METHODS: A systematic analysis of patients with unclassified leukoencephalopathies admitted to our institutions revealed 10 children with congenital cataract, slowly progressive neurologic impairment, and diffuse white matter abnormalities on neuroimaging. Psychomotor developmental delay was evident after the first year of life. Peripheral neuropathy was demonstrated by neurophysiologic studies in 9 children. The available neuroimaging studies were retrospectively reviewed. RESULTS: In all patients, neuroimaging revealed diffuse involvement of the supratentorial white matter associated with preservation of both cortical and deep gray matter structures. Supratentorial white matter hypomyelination was detected in all patients; 7 patients also had evidence of variably extensive areas of increased white matter water content. Deep cerebellar white matter hypomyelination was found in 6 patients. Older patients had evidence of white matter bulk loss and gliosis. Proton MR spectroscopy showed variable findings, depending on the stage of the disease. Sural nerve biopsy revealed hypomyelinated nerve fibers. Mutations in the DRCTNNB1A gene on chromosome 7p15.3, causing complete or severe deficiency of hyccin, were demonstrated in all patients. CONCLUSIONS: HCC is characterized by a combined pattern of primary myelin deficiency and secondary neurodegenerative changes. In the proper clinical setting, recognition of suggestive neuroimaging findings should prompt appropriate genetic investigations
Anisotropic flow at RHIC: How unique is the number-of-constituent-quark scaling?
The transverse momentum dependence of the anisotropic flow for ,
, nucleon, , and is studied for Au+Au collisions at
GeV within two independent string-hadron transport
approaches (RQMD and UrQMD). Although both models reach only 60% of the
absolute magnitude of the measured , they both predict the particle type
dependence of , as observed by the RHIC experiments: exhibits a
hadron-mass hierarchy (HMH) in the low region and a
number-of-constituent-quark (NCQ) dependence in the intermediate region.
The failure of the hadronic models to reproduce the absolute magnitude of the
observed indicates that transport calculations of heavy ion collisions at
RHIC must incorporate interactions among quarks and gluons in the early, hot
and dense phase. The presence of an NCQ scaling in the string-hadron model
results suggests that the particle-type dependencies observed in heavy-ion
collisions at intermediate might be related to the hadronic cross
sections in vacuum rather than to the hadronization process itself.Comment: 10 pages, 5 figures; A new author (H. Petersen) is added; A new
figure (fig.1) on time evolution of elliptic flow and number of collisions is
added; Version accepted for publication in J. Phys.
Остеоартроз, артериальная гипертензия и ожирение: проблема коморбидности
Представлены данные современных исследований отечественных и зарубежных ученых, касающиеся распространенности сочетанной патологии − остеоартроза с артериальной гипертензией и ожирением.Наведено дані сучасних досліджень вітчизняних і зарубіжних вчених щодо поширеності поєднаної патології − остеоартрозу з артеріальною гіпертензією та ожирінням.The data of contemporary investigations of Ukrainian and foreign scientists about the prevalence of combined pathology (osteoarthrosis with arterial hypertension and obesity) are presented
Genetic Background of Prop1df Mutants Provides Remarkable Protection Against Hypothyroidism-Induced Hearing Impairment
Hypothyroidism is a cause of genetic and environmentally induced deafness. The sensitivity of cochlear development and function to thyroid hormone (TH) mandates understanding TH action in this sensory organ. Prop1df and Pou1f1dw mutant mice carry mutations in different pituitary transcription factors, each resulting in pituitary thyrotropin deficiency. Despite the same lack of detectable serum TH, these mutants have very different hearing abilities: Prop1df mutants are mildly affected, while Pou1f1dw mutants are completely deaf. Genetic studies show that this difference is attributable to the genetic backgrounds. Using embryo transfer, we discovered that factors intrinsic to the fetus are the major contributor to this difference, not maternal effects. We analyzed Prop1df mutants to identify processes in cochlear development that are disrupted in other hypothyroid animal models but protected in Prop1df mutants by the genetic background. The development of outer hair cell (OHC) function is delayed, but Prestin and KCNQ4 immunostaining appear normal in mature Prop1df mutants. The endocochlear potential and KCNJ10 immunostaining in the stria vascularis are indistinguishable from wild type, and no differences in neurofilament or synaptophysin staining are evident in Prop1df mutants. The synaptic vesicle protein otoferlin normally shifts expression from OHC to IHC as temporary afferent fibers beneath the OHC regress postnatally. Prop1df mutants exhibit persistent, abnormal expression of otoferlin in apical OHC, suggesting delayed maturation of synaptic function. Thus, the genetic background of Prop1df mutants is remarkably protective for most functions affected in other hypothyroid mice. The Prop1df mutant is an attractive model for identifying the genes that protect against deafness
Definition and Validation of the American College of Rheumatology 2021 Juvenile Arthritis Disease Activity Score Cutoffs for Disease Activity States in Juvenile Idiopathic Arthritis
Export Date: 16 February 2023; Cited By: 10Peer reviewe
The Reputational Consequences of Failed Replications and Wrongness Admission among Scientists
Scientists are dedicating more attention to replication efforts. While the scientific utility of replications is unquestionable, the impact of failed replication efforts and the discussions surrounding them deserve more attention. Specifically, the debates about failed replications on social media have led to worry, in some scientists, regarding reputation. In order to gain data-informed insights into these issues, we collected data from 281 published scientists. We assessed whether scientists overestimate the negative reputational effects of a failed replication in a scenario-based study. Second, we assessed the reputational consequences of admitting wrongness (versus not) as an original scientist of an effect that has failed to replicate. Our data suggests that scientists overestimate the negative reputational impact of a hypothetical failed replication effort. We also show that admitting wrongness about a non-replicated finding is less harmful to one’s reputation than not admitting. Finally, we discovered a hint of evidence that feelings about the replication movement can be affected by whether replication efforts are aimed one’s own work versus the work of another. Given these findings, we then present potential ways forward in these discussions
Growing pains in children
We review the clinical manifestations of "growing pains", the most common form of episodic childhood musculoskeletal pain. Physicians should be careful to adhere to clear clinical criteria as described in this review before diagnosing a child with growing pain. We expand on current theories on possible causes of growing pains and describe the management of these pains and the generally good outcome in nearly all children
Development of the autoinflammatory disease damage index (ADDI)
OBJECTIVES: Autoinflammatory diseases cause systemic inflammation that can result in damage to multiple organs. A validated instrument is essential to quantify damage in individual patients and to compare disease outcomes in clinical studies. Currently, there is no such tool. Our objective was to develop a common autoinflammatory disease damage index (ADDI) for familial Mediterranean fever, cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic fever syndrome and mevalonate kinase deficiency. METHODS: We developed the ADDI by consensus building. The top 40 enrollers of patients in the Eurofever Registry and 9 experts from the Americas participated in multiple rounds of online surveys to select items and definitions. Further, 22 (parents of) patients rated damage items and suggested new items. A consensus meeting was held to refine the items and definitions, which were then formally weighted in a scoring system derived using decision-making software, known as 1000minds. RESULTS: More than 80% of the experts and patients completed the online surveys. The preliminary ADDI contains 18 items, categorised in the following eight organ systems: reproductive, renal/amyloidosis, developmental, serosal, neurological, ears, ocular and musculoskeletal damage. The categories renal/amyloidosis and neurological damage were assigned the highest number of points, serosal damage the lowest number of points. The involvement of (parents of) patients resulted in the inclusion of, for example, chronic musculoskeletal pain. CONCLUSIONS: An instrument to measure damage caused by autoinflammatory diseases is developed based on consensus building. Patients fulfilled a significant role in this process
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