Sci Rep
November 2023
Chemotherapy-induced alopecia (CIA) is a challenge in the management of cancer patients. Scalp cooling (SC) leads to reduction in CIA, however it is associated with significant adverse events, leading to 3-13% discontinuation rates. This pilot study evaluated the role of Electric Hand Warmers (EHW) on thermal (TC), sensorial (SCo) and general comfort (GC) in patients with breast cancer (BC) undergoing chemotherapy and SC to reduce CIA.
View Article and Find Full Text PDFCien Saude Colet
September 2023
Understanding racism as an integral part of Brazilian reality, constituting a social determinant of the health-disease process, this article seeks to reflect on the impacts of racism on subjectivity and contemplate the health care offered to black women. The reflections derive from a qualitative study using the biographical method, in which black women provided a narrative of their lives and experiences with racism. The narratives give visibility to the negative effects of living systematically under structural racism in the self-images of the interviewed women, as well as the lack of and/or poor effectiveness of public policies of integral health care to transform the status quo.
View Article and Find Full Text PDFObjective: This study aimed to assess if a color scale in the endotracheal tube (ETT) can help operators to correctly select the size and depth of placement of the ETT and decrease the time required to complete the procedure and compared with the usual numeric ETT scale in a mannequin model.
Study Design: The study was conducted in eight centers. Each size of the ETT was identified with a different color.
Objective: To compare the efficacy of video-assisted self-directed neonatal resuscitation skills course with video-assisted facilitator-led course.
Methods: This multicenter, randomized, blinded, non-inferiority-controlled trial compared two methods of teaching basic neonatal resuscitation skills using mask ventilation. Groups of novice providers watched an instructional video.
Niemann-Pick type C disease (NPCD) is an autosomal recessive storage disorder, characterized by abnormal sequestration of unesterified cholesterol within the late endo-lysosomal compartment of cells. In the central nervous system, hypoxic insults could result in low-density lipoprotein (LDL) oxidation and Lectin-like oxidized LDL receptor-1 (LOX-1) induction, leading to a pathological hippocampal response, namely, ischemic long-term potentiation (i-LTP). These events may correlate with the progressive neural loss observed in NPCD.
View Article and Find Full Text PDFObjective: This study characterizes the expression of tau (p-tau) and α-synuclein (α-syn) by immunohistochemistry in the skin of three different populations: healthy control (HC), Parkinson disease (PD), and progressive supranuclear paralysis (PSP) subjects, with the purpose of finding a biomarker that could differentiate between subjects with PD and PSP.
Material And Methods: We evaluated the presence of p-tau and α-syn in a pilot study in the skin of three distinct groups of patients: 17 healthy subjects, 17 patients with PD, and 10 patients with PSP. Four millimeters punch biopsies were obtained from the occipital area and analyzed by immunohistochemistry using antibodies against α-syn and phosphorylated species of tau.
Background: SOX11 is a transcription factor proposed to play a role in brain development. The relevance of SOX11 to human developmental disorders was suggested by a recent report of SOX11 mutations in two patients with Coffin-Siris syndrome. Here we further investigate the role of SOX11 variants in neurodevelopmental disorders.
View Article and Find Full Text PDFObjective: To evaluate the contribution of deglutition videofluoroscopy in the clinical diagnosis of dysphagia in chronic encephalopathy of childhood.
Materials And Methods: The study sample consisted of 93 children diagnosed with chronic encephalopathy, in the age range between two and five years, selected by convenience among patients referred to the authors' institution by speech therapists, neurologists and gastroenterologists in the period from March 2010 to September 2011. The data collection was made at two different moments, by different investigators who were blind to each other.
Besides the crucial role of genetic susceptibility in the development of early-onset obesity, it has been shown that feeding behavior could contribute to increased body weight. A significant association between obesity/overweight and ADHD has been reported, suggesting that these two conditions, despite their heterogeneity, might share common molecular pathways. Although the co-occurrence of obesity and ADHD is increasingly supported by empirical evidence, the complex pathogenetic link between these two conditions is still unclear.
View Article and Find Full Text PDFFour disintegrins were isolated from the venoms of the Central American viperid snakes Atropoides mexicanus (atropoimin), Bothrops asper (bothrasperin), Cerrophidion sasai (sasaimin), and Crotalus simus (simusmin). Purifications were performed by reverse-phase HPLC. The four disintegrins have biochemical characteristics, i.
View Article and Find Full Text PDFMutations in ANKRD11 have recently been reported to cause KBG syndrome, an autosomal dominant condition characterized by intellectual disability (ID), behavioral problems, and macrodontia. To understand the pathogenic mechanism that relates ANKRD11 mutations with the phenotype of KBG syndrome, we studied the cellular characteristics of wild-type ANKRD11 and the effects of mutations in humans and mice. We show that the abundance of wild-type ANKRD11 is tightly regulated during the cell cycle, and that the ANKRD11 C-terminus is required for the degradation of the protein.
View Article and Find Full Text PDFOcular coloboma is a sight-threatening malformation caused by failure of the choroid fissure to close during morphogenesis of the eye, and is frequently associated with additional anomalies, including microphthalmia and cataracts. Although Hedgehog signaling is known to play a critical role in choroid fissure closure, genetic regulation of this pathway remains poorly understood. Here, we show that the transcription factor Sox11 is required to maintain specific levels of Hedgehog signaling during ocular development.
View Article and Find Full Text PDFCardiopulmonary resuscitation (CPR) courses meet all the definitions of an educational activity for prevention of cardiac arrest death by risk patients' parents and/or the general population. The aim is to improve patients' home care and turn parents confident before their children are discharged from hospital, mainly from intensive care units. Currently these courses are part of discharge protocols in many neonatologist services although there are offers that exceed this target, and extend to other areas such as education and caregivers.
View Article and Find Full Text PDFNeurofibromatosis type 1 is associated with executive dysfunctions and comorbidity with attention-deficit hyperactivity disorder (ADHD) in 30% to 50% of children. This study was designed to clarify the neurocognitive phenotype observed in neurofibromatosis type 1 by testing the hypothesis that children with neurofibromatosis type 1 have specific planning deficits independently from intellectual level and ADHD comorbidity. Eighteen children with neurofibromatosis type 1 were pair-matched to 18 children with ADHD and 18 healthy controls.
View Article and Find Full Text PDFAutism Spectrum Disorders (ASDs) and Attention Deficit and Hyperactivity Disorder (ADHD) are the most common comorbid conditions associated with childhood epilepsy. The co-occurrence of an epilepsy/autism phenotype or an epilepsy/ADHD phenotype has a complex and heterogeneous pathogenesis, resulting from several altered neurobiological mechanisms involved in early brain development, and influencing synaptic plasticity, neurotransmission and functional connectivity. Rare clinically relevant chromosomal aberrations, in addition to environmental factors, may confer an increased risk for ASDs/ADHD comorbid with epilepsy.
View Article and Find Full Text PDFSome clinical experiences indicate that H1-antihistamines, especially first-generation H1-antagonists, occasionally provoke convulsions in healthy children as well as epileptic patients. Desloratadine is a frequently used second-generation antihistamine considered to be effective and safe for the treatment of allergic diseases. We describe four children who experienced epilepsy associated with the nonsedating H(1)-antagonist desloratadine and discuss the neurophysiologic role of the central histaminergic system in seizure susceptibility.
View Article and Find Full Text PDFAm J Med Genet B Neuropsychiatr Genet
January 2013
KBG syndrome is a rare disease characterized by typical facial dysmorphism, macrodontia of upper central incisors, skeletal abnormalities, and developmental delay. Recently, mutations in ANKRD11 gene have been identified in a subset of patients with KBG syndrome, while a contiguous gene deletion syndrome involving 16q24.3 region (including ANKRD11) was delineated in patients with facial dysmorphism, autism, intellectual disability, and brain abnormalities.
View Article and Find Full Text PDFAm J Med Genet B Neuropsychiatr Genet
October 2012
Children with Neurofibromatosis type 1 (NF1) are known to have cognitive, social, and behavioral deficits. Fifteen NF1-subjects (5 boys, 10 girls, mean age = 13.4), and 15 healthy controls matched for age and sex were assessed on the presence of anxiety symptoms, using the Multidimensional Anxiety Scale for Children (MASC), self-report questionnaire.
View Article and Find Full Text PDFWe report the case of a young male with attention-deficit hyperactivity disorder, oppositional defiant disorder, eating problems and overweight, and mild mental retardation. Karyotype analysis detected an apparently balanced translocation: t(1;2)(p34.1;q21.
View Article and Find Full Text PDFRing chromosome 18 [r(18)] is a disorder in which one or both ends of chromosome 18 are lost and joined forming a ring-shaped figures. R(18) patients can therefore show features of 18q-, 18p- syndrome or a combination of both, depending on the size of the 18p and 18q deleted regions. The phenotype of the r(18) is characterized by developmental delay/mental retardation, typical facial dysmorphisms, major abnormalities and immunological problems.
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