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https://www.readbyqxmd.com/read/28643364/development-of-clinical-paroxysmal-nocturnal-haemoglobinuria-in-children-with-aplastic-anaemia
#1
Atsushi Narita, Hideki Muramatsu, Yusuke Okuno, Yuko Sekiya, Kyogo Suzuki, Motoharu Hamada, Shinsuke Kataoka, Daisuke Ichikawa, Rieko Taniguchi, Norihiro Murakami, Daiei Kojima, Eri Nishikawa, Nozomu Kawashima, Nobuhiro Nishio, Asahito Hama, Yoshiyuki Takahashi, Seiji Kojima
The clinical significance of paroxysmal nocturnal haemoglobinuria (PNH) in children with aplastic anaemia (AA) remains unclear. We retrospectively studied 57 children with AA between 1992 and 2010. During the follow-up, five patients developed clinical PNH, in whom somatic PIGA mutations were detected by targeted sequencing. The 10-year probability of clinical PNH development was 10·2% (95% confidence interval, 3·6-20·7%). Furthermore, the detection of minor PNH clones by flow cytometry at AA diagnosis was a risk factor for the subsequent development of clinical PNH...
June 23, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28643234/body-mass-disorders-in-healthy-short-children-and-in-children-with-growth-hormone-deficiency
#2
Paweł Tomaszewski, Katarzyna Milde, Anna Majcher, Beata Pyrżak, Gul Tiryaki-Sonmez, Brad J Schoenfeld
The aim of the study was to determine the degree of adiposity and the incidence of body mass disorders, including abdominal obesity, in healthy short children and children with growth hormone deficiency. The study included 134 short children (height < 10th percentile) aged 7-15. In this cohort there were 63 (31 boys and 32 girls) children without diagnosed hormonal disorders and 71 patients (35 boys and 36 girls) with growth hormone deficiency. Basic somatic features were assessed and the study participants were categorized according to the percentage of body fat (%FAT), body mass index (BMI), and waist-to-height ratio (WHtR)...
June 23, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28637619/practical-considerations-for-diagnosis-and-management-of-patients-and-carriers
#3
REVIEW
Charlotte M Niemeyer, Cristina Mecucci
Newly diagnosed children and adults with myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) need to be screened for presence of a genetic predisposition syndrome because the information on the genetic status is likely to influence clinical care and management of the patient and the family. Scenarios in which genetic counseling is advised include presence of a mutation on somatic screen that can be associated with a germline predisposition, hematologic or cytogenetic characteristics suggestive of an underlying susceptibility syndrome, non-hematological phenotype suspicious for a familial condition, history of previous malignancy, or a family history of cancer, cytopenia, autoimmunity, or organ-system manifestation fitting a predisposition syndrome...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28637616/down-syndrome-rasopathies-and-other-rare-syndromes
#4
Christian P Kratz, Shai Izraeli
In this article we discuss the occurrence of myeloid neoplasms in patients with a range of syndromes that are due to germline defects of the RAS signaling pathway and in patients with trisomy 21. Both RAS mutations and trisomy 21 are common somatic events contributing to leukemogenis. Thus, the increased leukemia risk observed in children affected by these conditions is biologically highly plausible. Children with myeloid neoplasms in the context of these syndromes require different treatments than children with sporadic myeloid neoplasms and provide an opportunity to study the role of trisomy 21 and RAS signaling during leukemogenesis and development...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28635306/self-injurious-behaviors-in-children-with-autism-spectrum-disorder-enrolled-in-the-study-to-explore-early-development
#5
Gnakub Norbert Soke, Steven A Rosenberg, Cordelia Robinson Rosenberg, Roma A Vasa, Li-Ching Lee, Carolyn DiGuiseppi
We assessed potential factors associated with "current" or "ever" self-injurious behaviors, reported in the Autism Diagnostic Interview-Revised, among children with autism spectrum disorder (n = 692) from the Study to Explore Early Development. Data on factors examined were obtained from questionnaires, standardized clinical instruments, and birth certificates. We employed a log-binomial regression to assess these associations. Although most associations were quite similar for currently and ever exhibiting self-injurious behaviors, a few differences were noted...
June 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28627003/sonographic-screening-for-wilms-tumor-in-children-with-cloves-syndrome
#6
Caitlin M Peterman, R Dawn Fevurly, Ahmad I Alomari, Cameron C Trenor, Denise M Adams, Sophie Vadeboncoeur, Marilyn G Liang, Arin K Greene, John B Mulliken, Steven J Fishman
BACKGROUND: CLOVES syndrome is associated with somatic mosaic PIK3CA mutations and characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies. Wilms tumor (WT) is a malignant embryonal renal neoplasm associated with hemihypertrophy and certain overgrowth disorders. After identifying WT in a child with CLOVES, we questioned whether ultrasonographic screening was necessary in these patients. METHODS: We retrospectively reviewed patients with CLOVES syndrome in our Vascular Anomalies Center at Boston Children's Hospital between 1998 and 2016 to identify those who developed WT...
June 19, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28616427/specific-genes-associated-with-adverse-events-of-methylphenidate-use-in-the-pediatric-population-a-systematic-literature-review
#7
REVIEW
Beinta Joensen, Morten Meyer, Lise Aagaard
The aim of this study was to review empirical studies examining associations between candidate genes and adverse events (AEs) from methylphenidate (MPH) use in children and adolescents. The PubMed, EMBASE, CINAHL, and Web of Science databases were searched from their inception until March 2017. We included empirically based articles on pharmacogenetic studies in 0-17-year-old patients that investigated associations between specific candidate genes, their polymorphisms, and reported AEs. We extracted information about study design, setting, type of AE reporter, studied genes and their polymorphisms, age and gender, administered doses, method of genotyping, outcome measures, and main findings...
April 2017: Journal of Research in Pharmacy Practice
https://www.readbyqxmd.com/read/28602692/psychological-characteristics-and-pain-frequency-are-associated-with-experimental-pain-sensitivity-in-pediatric-patients-with-sickle-cell-disease
#8
Nitya Bakshi, Ines Lukombo, Helen Shnol, Inna Belfer, Lakshmanan Krishnamurti
Sickle Cell Disease (SCD) is associated with episodes of severe vasocclusive pain beginning in infancy with a subset of patients with SCD transitioning to chronic pain. Response to experimental pain using Quantitative Sensory Testing (QST) in these patients suggest altered pain processing. The objectives of this study were to characterize sensitivity to multiple modalities of experimental pain stimuli and to interrogate the relationship of psychological covariates, clinical pain burden and pain-related outcomes to experimental pain sensitivity in children with SCD as compared to healthy individuals of similar age and sex...
June 5, 2017: Journal of Pain: Official Journal of the American Pain Society
https://www.readbyqxmd.com/read/28599772/do-adolescent-risk-behaviors-mediate-health-and-school-bullying-testing-the-stress-process-and-general-strain-frameworks
#9
Joseph C Jochman, Jacob E Cheadle, Bridget J Goosby
Adolescent bullying is a significant public health issue in the United States. The health consequences of bullying may vary, however, according to the social position and characteristics of victims and bullies within the bullying subculture. For example, research suggests that bully involved youth are more likely to engage in risky health behaviors, including social withdrawal, tobacco, and alcohol use. Yet, the extent to which health outcomes are shaped by involvements in bullying or the risk behaviors associated with bullying remains unclear...
July 2017: Social Science Research
https://www.readbyqxmd.com/read/28598585/epithelioid-hemangioendotheliomas-of-the-liver-and-lung-in-children-and-adolescents
#10
REVIEW
Simone Hettmer, Geoffroy Andrieux, Jochen Hochrein, Philipp Kurz, Jochen Rössler, Silke Lassmann, Martin Werner, Nikolas von Bubnoff, Christoph Peters, Ewa Koscielniak, Monika Sparber-Sauer, Charlotte Niemeyer, Thomas Mentzel, Hauke Busch, Melanie Boerries
Epithelioid hemangioendothelioma (EHE) is a rare, vascular sarcoma. Visceral forms arise in the liver/ lungs. We review the clinical and molecular phenotype of pediatric visceral EHE based on the case of a 9-year-old male child with EHE of the liver/lungs. His tumor expressed the EHE-specific fusion oncogene WWTR1-CAMTA1. Molecular characterization revealed a low somatic mutation rate and activated interferon signaling, angiogenesis regulation, and blood vessel remodeling. After polychemotherapy and resection of lung tumors, residual disease remained stable on oral lenalidomide...
June 9, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28597146/human-i%C3%AE%C2%BAb%C3%AE-gain-of-function-a-severe-and-syndromic-immunodeficiency
#11
REVIEW
Bertrand Boisson, Anne Puel, Capucine Picard, Jean-Laurent Casanova
Germline heterozygous gain-of-function (GOF) mutations of NFKBIA, encoding IκBα, cause an autosomal dominant (AD) form of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Fourteen unrelated patients have been reported since the identification of the first case in 2003. All mutations enhanced the inhibitory activity of IκBα, by preventing its phosphorylation on serine 32 or 36 and its subsequent degradation. The mutation certainly or probably occurred de novo in 13 patients, whereas it was inherited from a parent with somatic mosaicism in one patient...
June 9, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28592748/epigenetic-targeted-therapy-for-diffuse-intrinsic-pontine-glioma
#12
Rintaro Hashizume
Diffuse intrinsic pontine glioma (DIPG) is a rare but uniformly fatal cancer of the brain, with peak incidence in children of 5-7 years of age. In contrast to most types of human cancer, there has been no significant improvement in treatment outcomes for patients with DIPG. Since DIPG occurs in the brainstem, a vital region of the brain, there are no surgical options for providing relief to patients, and chemotherapy as well as radiation therapy provide palliative relief at best. To date, more than 250 clinical trials evaluating radiotherapy along with conventional cytotoxic chemotherapy, as well as newer biologic agents, have failed to improve the dismal outcome when compared with palliative radiation alone...
June 7, 2017: Neurologia Medico-chirurgica
https://www.readbyqxmd.com/read/28585740/comparing-trauma-exposure-mental-health-needs-and-service-utilization-across-clinical-samples-of-refugee-immigrant-and-u-s-origin-children
#13
Theresa S Betancourt, Elizabeth A Newnham, Dina Birman, Robert Lee, B Heidi Ellis, Christopher M Layne
Most mental health services for trauma-exposed children and adolescents were not originally developed for refugees. Information is needed to help clinicians design services to address the consequences of trauma in refugee populations. We compared trauma exposure, psychological distress, and mental health service utilization among children and adolescents of refugee-origin, immigrant-origin, and U.S.-origin referred for assessment and treatment by U.S. providers in the National Child Traumatic Stress Network (NCTSN)...
June 6, 2017: Journal of Traumatic Stress
https://www.readbyqxmd.com/read/28579842/short-and-long-term-health-consequences-of-sleep-disruption
#14
REVIEW
Goran Medic, Micheline Wille, Michiel Eh Hemels
Sleep plays a vital role in brain function and systemic physiology across many body systems. Problems with sleep are widely prevalent and include deficits in quantity and quality of sleep; sleep problems that impact the continuity of sleep are collectively referred to as sleep disruptions. Numerous factors contribute to sleep disruption, ranging from lifestyle and environmental factors to sleep disorders and other medical conditions. Sleep disruptions have substantial adverse short- and long-term health consequences...
2017: Nature and Science of Sleep
https://www.readbyqxmd.com/read/28578432/effects-of-childhood-and-adolescence-physical-activity-patterns-on-psychosis-risk-a-general-population-cohort-study
#15
Elina Sormunen, Maiju M Saarinen, Raimo K R Salokangas, Risto Telama, Nina Hutri-Kähönen, Tuija Tammelin, Jorma Viikari, Olli Raitakari, Jarmo Hietala
Schizophrenia spectrum disorders are associated with high morbidity and mortality in somatic diseases. The risk factors of this excess mortality include, e.g., obesity, dietary factors, and physical inactivity, especially after the onset of psychosis, but there are limited early developmental data on these factors in individuals who later develop psychosis. A population-based cohort study "Cardiovascular Risk of Young Finns" started in 1980 with 3596 children and adolescents from six different age groups (3, 6, 9, 12, 15, and 18 years)...
January 13, 2017: NPJ Schizophrenia
https://www.readbyqxmd.com/read/28560251/effects-of-childhood-and-adolescence-physical-activity-patterns-on-psychosis-risk-a-general-population-cohort-study
#16
Elina Sormunen, Maiju M Saarinen, Raimo K R Salokangas, Risto Telama, Nina Hutri-Kähönen, Tuija Tammelin, Jorma Viikari, Olli Raitakari, Jarmo Hietala
Schizophrenia spectrum disorders are associated with high morbidity and mortality in somatic diseases. The risk factors of this excess mortality include, e.g., obesity, dietary factors, and physical inactivity, especially after the onset of psychosis, but there are limited early developmental data on these factors in individuals who later develop psychosis. A population-based cohort study "Cardiovascular Risk of Young Finns" started in 1980 with 3596 children and adolescents from six different age groups (3, 6, 9, 12, 15, and 18 years)...
2017: NPJ Schizophrenia
https://www.readbyqxmd.com/read/28557976/mutations-in-tp53-and-jak2-are-independent-prognostic-biomarkers-in-b-cell-precursor-acute-lymphoblastic-leukaemia
#17
Maribel Forero-Castro, Cristina Robledo, Rocío Benito, Irene Bodega-Mayor, Inmaculada Rapado, María Hernández-Sánchez, María Abáigar, Jesús Maria Hernández-Sánchez, Miguel Quijada-Álamo, José María Sánchez-Pina, Mónica Sala-Valdés, Fernanda Araujo-Silva, Alexander Kohlmann, José Luis Fuster, Maryam Arefi, Natalia de Las Heras, Susana Riesco, Juan N Rodríguez, Lourdes Hermosín, Jordi Ribera, Mireia Camos Guijosa, Manuel Ramírez, Cristina Díaz de Heredia Rubio, Eva Barragán, Joaquín Martínez, José M Ribera, Elena Fernández-Ruiz, Jesús-María Hernández-Rivas
BACKGROUND: In B-cell precursor acute lymphoblastic leukaemia (B-ALL), the identification of additional genetic alterations associated with poor prognosis is still of importance. We determined the frequency and prognostic impact of somatic mutations in children and adult cases with B-ALL treated with Spanish PETHEMA and SEHOP protocols. METHODS: Mutational status of hotspot regions of TP53, JAK2, PAX5, LEF1, CRLF2 and IL7R genes was determined by next-generation deep sequencing in 340 B-ALL patients (211 children and 129 adults)...
May 30, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28552929/correlations-between-somatic-features-anteroposterior-spinal-curvatures-and-trunk-muscle-strength-in-schoolchildren
#18
Katarzyna Barczyk-Pawelec, Wioletta Dziubek, Jerzy R Piechura, Krystyna Rożek
BACKGROUND: Evaluation of body posture and strength of spinal muscles in children during their progressive ontogenesis is significant for the evaluation of their physical health condition and physical fitness. It is also a reference point in a process of control and medical care. PURPOSE: The aim if this study was to evaluate correlation between the selected features of somatic body structure, shape of anteroposterior spinal curves and force-velocity (FV) parameters of trunk muscles in school children...
2017: Acta of Bioengineering and Biomechanics
https://www.readbyqxmd.com/read/28546550/human-igg2-and-igg4-expressing-memory-b-cells-display-enhanced-molecular-and-phenotypic-signs-of-maturity-and-accumulate-with-age
#19
Britt G de Jong, Hanna IJspeert, Lemelinda Marques, Mirjam van der Burg, Jacques J M van Dongen, Bruno G Loos, Menno C van Zelm
The mechanisms involved in sequential immunoglobulin (IG)G class switching are still largely unknown. Sequential IG class switching is linked to higher levels of somatic hypermutation (SHM) in vivo, but it remains unclear if these are generated temporally during an immune response or upon activation in a secondary response. We here aimed to uncouple these processes and to distinguish memory B cells from primary and secondary immune responses. SHM levels and IgG subclasses were studied with 454 pyrosequencing on PBMC from young children and adults as models for primary and secondary immunological memory...
May 26, 2017: Immunology and Cell Biology
https://www.readbyqxmd.com/read/28534022/mental-health-problems-in-parents-of-children-with-congenital-heart-disease
#20
REVIEW
Gerasimos A Kolaitis, Maya G Meentken, Elisabeth M W J Utens
This review will provide a concise description of mental health problems in parents of children with a (non-syndromic) congenital heart disease (CHD) during different stressful periods. Predictors of these problems and also implications for clinical practice will be mentioned. Having a child with CHD can be very stressful for parents, who have to face overwhelming emotions and also extra physical, financial, and other practical challenges. Parental distress has been reported in 30-80% of parents and appears not to be related to severity of CHD...
2017: Frontiers in Pediatrics
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