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cognition thalassemia

Norifumi Shioda, Yasushi Yabuki, Kouya Yamaguchi, Misaki Onozato, Yue Li, Kenji Kurosawa, Hideyuki Tanabe, Nobuhiko Okamoto, Takumi Era, Hiroshi Sugiyama, Takahito Wada, Kohji Fukunaga
Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is caused by mutations in ATRX, which encodes a chromatin-remodeling protein. Genome-wide analyses in mouse and human cells indicate that ATRX tends to bind to G-rich sequences with a high potential to form G-quadruplexes. Here, we report that Atrx mutation induces aberrant upregulation of Xlr3b expression in the mouse brain, an outcome associated with neuronal pathogenesis displayed by ATR-X model mice. We show that ATRX normally binds to G-quadruplexes in CpG islands of the imprinted Xlr3b gene, regulating its expression by recruiting DNA methyltransferases...
May 21, 2018: Nature Medicine
Dana R Jorgensen, Andrea Metti, Meryl A Butters, Joseph M Mettenburg, Caterina Rosano, Enrico M Novelli
Psychomotor slowing is common in children with sickle cell disease (SCD), but little is known about its severity in adults. We conducted a cross-sectional study to quantify psychomotor speed, measured with the digit symbol substitution test (DSST), in relationship with disease severity in adults with SCD attending an outpatient clinic (n = 88, age 36.3 years). Genotype was used to group patients in "severe" (homozygous for hemoglobin S or compound heterozygous with β0 thalassemia) or "moderate" groups (compound heterozygous for HbS, with either HbC or β+ thalassemia)...
September 26, 2017: Blood Advances
M S Elalfy, R H Aly, H Azzam, K Aboelftouh, R H Shatla, M Tarif, M Abdatty, R M Elsayed
OBJECTIVE: To evaluate the impact of iron chelating drugs and serum ferritin on the neurocognitive functions of patients with β thalassemia major (β-TM), using psychometric, neurophysiologic and radiologic tests. METHODS: Eighty children with β-TM were enrolled into the study and were compared to 40 healthy controls. All participants were evaluated by measuring serum ferritin, neurocognitive assessment by Benton Visual Retention Test, Wechsler Intelligence Scale for Children, Wisconsin Card Sort Test, P300 and magnetic resonance spectroscopy (MRS)...
December 2017: Hematology (Amsterdam, Netherlands)
Sivan Raz, Ariel Koren, Orrie Dan, Carina Levin
In recent years, there has been growing interest in understanding the involvement of the nervous system and neurological complications in β-thalassemia major (β-TM). Several reports have demonstrated β-TM-related neurological abnormalities, and these have been postulated to be responsible for impaired cognitive and neuropsychological functioning. We investigated neural correlates of cognitive function in adults with β-TM and healthy controls using scalp-recorded event-related potentials (ERPs). To date, there have been no ERP studies in β-TM adult patients...
December 2016: Annals of the New York Academy of Sciences
Zahra Moudi, Ebrahim Miri-Moghaddam
In the present study, an embedded design was applied in order to conduct a one-year cross-sectional audit of chorionic villus sampling (CVS) and foetal outcomes affected by β-thalassemia major (β-TM) in a prenatal diagnosis (PND) setting. In addition, we explored the decisions regarding pregnancy termination among women whose pregnancy (or child) was affected by β-TM. In the quantitative phase, the available data in the clients' medical records were analysed, while the qualitative phase was performed using a grounded theory method...
June 2017: Journal of Genetic Counseling
Pamela S Lagali, Chantal F Medina, Brandon Y H Zhao, Keqin Yan, Adam N Baker, Stuart G Coupland, Catherine Tsilfidis, Valerie A Wallace, David J Picketts
ATRX is a chromatin remodeling protein that is mutated in several intellectual disability disorders including alpha-thalassemia/mental retardation, X-linked (ATR-X) syndrome. We previously reported the prevalence of ophthalmological defects in ATR-X syndrome patients, and accordingly we find morphological and functional visual abnormalities in a mouse model harbouring a mutation occurring in ATR-X patients. The visual system abnormalities observed in these mice parallels the Atrx-null retinal phenotype characterized by interneuron defects and selective loss of amacrine and horizontal cells...
September 4, 2016: Human Molecular Genetics
Sivan Raz, Ariel Koren, Orrie Dan, Carina Levin
While β-thalassemia major (β-TM)-related physiological complications have been well established, less is known about implications for neuropsychological and cognitive function. The few existing studies have focused almost exclusively on children. We evaluated cognitive function in adult β-TM patients compared to healthy controls (study 1) and in β-TM patients before and after blood transfusion (study 2). Performance intelligence quotient (IQ) was evaluated with four subtests from the Wechsler Adult Intelligence Scale (WAIS-III)...
July 2016: Annals of the New York Academy of Sciences
Chiara Renzi, Silvia Riva, Marianna Masiero, Gabriella Pravettoni
Research in cognitive psychology focused on risk perception and decision making was shown to facilitate treatment choice and patient's satisfaction with decision in a number of medical conditions, increasing perceived alliance between patient and physician, and adherence to treatment. However, this aspect has been mostly neglected in the literature investigating choice of treatment for chronic hematological conditions. In this paper, a patient centered model and a shared decision making (SDM) approach to treatment switch in chronic hematological conditions, in particular chronic myeloid leukemia, atrial fibrillation, and β-thalassemia is proposed...
March 2016: Critical Reviews in Oncology/hematology
P Nemtsas, M Arnaoutoglou, V Perifanis, E Koutsouraki, A Orologas
The thalassemias are the most common single gene disorder in the world. Over the last years, several reports have demonstrated neurological complications in beta-thalassemia patients. In most cases, these complications remained subclinical and were detected only during neuropsychological, neurophysiological, or neuroimaging evaluation. Cognitive impairment, abnormal findings on evoked potentials, complications due to extramedullary hematopoiesis, cerebrovascular disease, and peripheral neuropathy comprise the broad spectrum of neurological involvement...
August 2015: Annals of Hematology
Girish Subramaniam, Meenakshi Girish
Iron deficiency is not just anemia; it can be responsible for a long list of other manifestations. This topic is of great importance, especially in infancy and early childhood, for a variety of reasons. Firstly, iron need is maximum in this period. Secondly, diet in infancy is usually deficient in iron. Thirdly and most importantly, iron deficiency at this age can result in neurodevelopmental and cognitive deficits, which may not be reversible. Hypochromia and microcytosis in a complete blood count (CBC) makes iron deficiency anemia (IDA) most likely diagnosis...
June 2015: Indian Journal of Pediatrics
Wolfgang Wick, Benedikt Wiestler, Michael Platten
Anaplastic gliomas have received increasing attention over the past years. As opposed to glioblastoma, where the focus has been on the evaluation of novel compounds (with mainly disappointing results), in anaplastic gliomas relevant progress was generated with genotoxic therapies and translational work on biomarkers. Anaplastic gliomas are classified using single biomarkers, namely isocitrate dehydrogenase (IDH) or the related CpG island methylator phenotype (CIMP), alpha-thalassemia/mental retardation syndrome X-linked (ATRX), telomerase reverse transcriptase (TERT), p53, 1p/19q, and O(6)-methylguanine DNA-methyltransferase (MGMT)...
2015: Cancer Treatment and Research
Nelly Raafat, Usama El Safy, Nahed Khater, Tamer Hassan, Basheir Hassan, Ahmed Siam, Amira Youssef, Amany El Shabrawy
Multiple risk factors contribute to cognitive impairment in children with β-thalassemia major. For a more refined understanding of this issue, we attempted to evaluate cognitive function in β-thalassemia major patients and identify the relationship between possible cognitive dysfunction and the following: demography, transfusion and chelation characteristics, iron overload, and disease complications. We studied 100 β-thalassemia major children and 100 healthy controls who matched well in terms of age, sex, and socioeconomic status...
March 2015: Journal of Child Neurology
T Wada, H Ban, M Matsufuji, N Okamoto, K Enomoto, K Kurosawa, N Aida
BACKGROUND AND PURPOSE: X-linked α-thalassemia/mental retardation syndrome (Mendelian Inheritance in Man, 301040) is one of the X-linked intellectual disability syndromes caused by mutations of the ATRX gene and characterized by male predominance, central hypotonic facies, severe cognitive dysfunction, hemoglobin H disease (α-thalassemia), genital and skeletal abnormalities, and autistic and peculiar behavior. More than 200 patients in the world, including >70 Japanese patients, have been diagnosed with ATR-X syndrome...
October 2013: AJNR. American Journal of Neuroradiology
Gerard Marx, Chaim Gilon
We propose a tripartite biochemical mechanism for memory. Three physiologic components are involved, namely, the neuron (individual and circuit), the surrounding neural extracellular matrix, and the various trace metals distributed within the matrix. The binding of a metal cation affects a corresponding nanostructure (shrinking, twisting, expansion) and dielectric sensibility of the chelating node (address) within the matrix lattice, sensed by the neuron. The neural extracellular matrix serves as an electro-elastic lattice, wherein neurons manipulate multiple trace metals (n > 10) to encode, store, and decode coginive information...
August 15, 2012: ACS Chemical Neuroscience
Channa T Hijmans, Martha A Grootenhuis, Jaap Oosterlaan, Harriët Heijboer, Marjolein Peters, Karin Fijnvandraat
BACKGROUND: Although neurocognitive deficits in children with sickle cell disease (SCD) have been well documented, the etiology of these deficits has not been completely clarified. The aim of this study was to investigate the association of laboratory markers of disease severity and radiological parameters with neurocognitive functioning in children with SCD. DESIGN AND METHODS: Participants were 37 children with SCD ((HbSS or HbS-β(0)-thalassemia) aged 6-18 years...
August 2011: Pediatric Blood & Cancer
Channa T Hijmans, Karin Fijnvandraat, Martha A Grootenhuis, Nan van Geloven, Harriët Heijboer, Marjolein Peters, Jaap Oosterlaan
BACKGROUND: Sickle cell disease (SCD) can lead to profound cerebral damage, associated with neurocognitive deficits. The aim of the current study was to evaluate a broad range of neurocognitive functions in children with SCD compared to a SES-matched control group, in order to gain more insight into the specific deficits of these patients. METHODS: Forty-one children with homozygous SCD (HbSS or HbS-β0-thalassemia) and 38 controls were assessed on a comprehensive set of well-defined and validated measures of neurocognitive functioning...
May 2011: Pediatric Blood & Cancer
Norifumi Shioda, Hideyuki Beppu, Takaichi Fukuda, En Li, Isao Kitajima, Kohji Fukunaga
In humans, mutations in the gene encoding ATRX, a chromatin remodeling protein of the sucrose-nonfermenting 2 family, cause several mental retardation disorders, including α-thalassemia X-linked mental retardation syndrome. We generated ATRX mutant mice lacking exon 2 (ATRX(ΔE2) mice), a mutation that mimics exon 2 mutations seen in human patients and associated with milder forms of retardation. ATRX(ΔE2) mice exhibited abnormal dendritic spine formation in the medial prefrontal cortex (mPFC). Consistent with other mouse models of mental retardation, ATRX(ΔE2) mice exhibited longer and thinner dendritic spines compared with wild-type mice without changes in spine number...
January 5, 2011: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Ozgur Duman, Sema Arayici, Cigil Fettahoglu, Nurkan Eryilmaz, Sibel Ozkaynak, Akif Yesilipek, Volkan Hazar
BACKGROUND: Children with β-thalassemia major (β-TM) have multiple risk factors for developing cognitive impairment. The aim of the present study was to evaluate cognitive function in patients with β-TM. METHODS: Twenty children with β-TM were enrolled into the study and were compared with a control group consisting of 21 healthy children. All participants were evaluated with neuropsychological tests and event-related potentials (ERP). RESULTS: All of the participants had normal IQ scores, but the patient group had significantly lower full-scale, performance, and verbal IQs compared with the control group (P < 0...
August 2011: Pediatrics International: Official Journal of the Japan Pediatric Society
Ghaydaa A Shehata, Khaled I Elsayh, Nafisa H Rafet, Amany O Mohamed, Tarek A Rageh
The current study is to detect some biomarkers of beta-thalassemia (ferritin, serum transferrin receptors, and nitric oxide levels) and to examine the relation between these markers and cognition in children with beta-thalassemia. Thirty children with beta-thalassemia were selected from the Pediatric Department at Assiut University hospital. Another 40 healthy children of the same age, sex, years of schooling, body mass index (BMI), and social scale were chosen as the control group. Assessment of clinical, laboratory, cognitive functions, and event related potential was done for patients and control groups...
December 2010: Journal of Child Neurology
Barney E Dwyer, Leo R Zacharski, Dominic J Balestra, Alan J Lerner, George Perry, Xiongwei Zhu, Mark A Smith
This communication explores the temporal link between the age-associated increase in body iron stores and the age-related incidence of Alzheimer's disease (AD), the most prevalent cause of senile dementia. Body iron stores that increase with age could be pivotal to AD pathogenesis and progression. Increased stored iron is associated with common medical conditions such as diabetes and vascular disease that increase risk for development of AD. Increased stored iron could also promote oxidative stress/free radical damage in vulnerable neurons, a critical early change in AD...
May 2009: Medical Hypotheses
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