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https://www.readbyqxmd.com/read/28416018/detection-of-histone-h3-mutations-in-cerebrospinal-fluid-derived-tumor-dna-from-children-with-diffuse-midline-glioma
#1
Tina Y Huang, Andrea Piunti, Rishi R Lulla, Jin Qi, Craig M Horbinski, Tadanori Tomita, C David James, Ali Shilatifard, Amanda M Saratsis
Diffuse midline gliomas (including diffuse intrinsic pontine glioma, DIPG) are highly morbid glial neoplasms of the thalamus or brainstem that typically arise in young children and are not surgically resectable. These tumors are characterized by a high rate of histone H3 mutation, resulting in replacement of lysine 27 with methionine (K27M) in genes encoding H3 variants H3.3 (H3F3A) and H3.1 (HIST1H3B). Detection of these gain-of-function mutations has clinical utility, as they are associated with distinct tumor biology and clinical outcomes...
April 17, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28412712/antitumor-necrosis-factor-%C3%AE-therapy-associated-with-inflammatory-bowel-disease-three-cases-and-a-systematic-literature-review
#2
Amir Bieber, Abdallah Fawaz, Irena Novofastovski, Reuven Mader
OBJECTIVE: Antitumor necrosis factor-α (anti-TNF-α) therapy is the most prescribed biologic agent therapy in rheumatology and gastroenterology. However, a number of serious side effects have been reported with these drugs. Only a handful of cases of new-onset inflammatory bowel disease (IBD), mostly in children diagnosed with juvenile idiopathic arthritis (JIA), have been reported during anti-TNF-α therapy. We present 3 cases of adult IBD following anti-TNF-α therapy and a literature review on this topic...
April 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28408855/targeted-therapy-for-soft-tissue-sarcomas-in-adolescents-and-young-adults
#3
REVIEW
Diana A Steppan, Christine A Pratilas, David M Loeb
Soft tissue sarcomas (STSs) are a heterogeneous group of tumors originating from the mesenchyme. Even though they affect individuals in all age groups, the prevalence of subtypes of STSs changes significantly from childhood through adolescence into adulthood. The mainstay of therapy is surgery, with or without the addition of chemotherapy and/or radiation therapy. These treatment modalities are associated, in many cases, with significant morbidity and, given the heterogeneity of tumor histologies encompassed by the term "STS", have not uniformly improved outcomes...
2017: Adolescent Health, Medicine and Therapeutics
https://www.readbyqxmd.com/read/28405185/motor-stereotypies-a-pathophysiological-review
#4
REVIEW
Zsanett Péter, Melody E Oliphant, Thomas V Fernandez
Motor stereotypies are common, repetitive, rhythmic movements with typical onset in early childhood. While most often described in children with autism spectrum disorder (ASD) and intellectual disability (ID), stereotypies can also present without developmental delay and persist into adulthood. Stereotypies are often disruptive and harmful, both physically and socially, and effective evidence-based treatments are lacking. This can be attributed, in part, to our incomplete knowledge of the underlying biological and environmental risk...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28401334/h3-idh-wild-type-pediatric-glioblastoma-is-comprised-of-molecularly-and-prognostically-distinct-subtypes-with-associated-oncogenic-drivers
#5
Andrey Korshunov, Daniel Schrimpf, Marina Ryzhova, Dominik Sturm, Lukas Chavez, Volker Hovestadt, Tanvi Sharma, Antje Habel, Anna Burford, Chris Jones, Olga Zheludkova, Ella Kumirova, Christof M Kramm, Andrey Golanov, David Capper, Andreas von Deimling, Stefan M Pfister, David T W Jones
Pediatric glioblastoma (pedGBM) is an extremely aggressive pediatric brain tumor, accounting for ~6% of all central nervous system neoplasms in children. Approximately half of pedGBM harbor recurrent somatic mutations in histone 3 variants or, infrequently, IDH1/2. The remaining subset of pedGBM is highly heterogeneous, and displays a variety of genomic and epigenetic features. In the current study, we aimed to further stratify an H3-/IDH-wild type (wt) pedGBM cohort assessed through genome-wide molecular profiling...
April 11, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28376530/autoimmune-neutropenia-updates-etiology-pathology-and-treatment
#6
Wais Afzal, Mohamad Bagher Owlia, Sarfaraz Hasni, Kam A Newman
Autoimmune neutropenia (AIN) is defined as a neutrophil count <1.5 × 10(9)/L caused by increased peripheral destruction of neutrophils from an underlying autoimmune mechanism in which autoantibodies are directed against a patient's own neutrophils. AIN has a multifactorial etiology ranging from an idiopathic primary phenomenon to secondary disorders associated with established autoimmune diseases. Primary AIN is more prevalent in children, generally self-limited, and typically manifests as a sole hematologic abnormality...
April 2017: Southern Medical Journal
https://www.readbyqxmd.com/read/28374184/brain-cancer-stem-cells-in-adults-and-children-cell-biology-and-therapeutic-implications
#7
REVIEW
Tamara J Abou-Antoun, James S Hale, Justin D Lathia, Stephen M Dombrowski
Brain tumors represent some of the most malignant cancers in both children and adults. Current treatment options target the majority of tumor cells but do not adequately target self-renewing cancer stem cells (CSCs). CSCs have been reported to resist the most aggressive radiation and chemotherapies, and give rise to recurrent, treatment-resistant secondary malignancies. With advancing technologies, we now have a better understanding of the genetic, epigenetic and molecular signatures and microenvironmental influences which are useful in distinguishing between distinctly different tumor subtypes...
April 3, 2017: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/28361501/fertility-care-interventions-should-be-provided-as-the-first-line-options-for-hiv-serodiscordant-couples-who-desire-children-in-settings-with-affordable-access-to-care-regardless-of-their-fertility-status
#8
Lauren Zakarin Safier, Mark V Sauer
INTRODUCTION: With increasing life expectancy, couples with at least one partner afflicted with HIV are more commonly pursuing the opportunity to have biologic offspring. Currently, there are no universally accepted recommendations regarding first line reproductive treatments for HIV serodiscordant couples lacking a history of infertility. We strongly believe that fertility care intervention should be the first line treatment, when affordably accessible, over natural conception for HIV serodiscordant couples to achieve pregnancy in a safe and efficacious manner...
March 8, 2017: Journal of the International AIDS Society
https://www.readbyqxmd.com/read/28359099/pediatric-obesity-assessment-treatment-and-prevention-an-endocrine-society-clinical-practice-guideline
#9
Dennis M Styne, Silva A Arslanian, Ellen L Connor, Ismaa Sadaf Farooqi, M Hassan Murad, Janet H Silverstein, Jack A Yanovski
Cosponsoring Associations: The European Society of Endocrinology and the Pediatric Endocrine Society. This guideline was funded by the Endocrine Society. Objective: To formulate clinical practice guidelines for the assessment, treatment, and prevention of pediatric obesity. Participants: The participants include an Endocrine Society-appointed Task Force of 6 experts, a methodologist, and a medical writer. Evidence: This evidence-based guideline was developed using the Grading of Recommendations, Assessment, Development, and Evaluation approach to describe the strength of recommendations and the quality of evidence...
March 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28358624/understanding-antiretroviral-treatment-adherence-among-hiv-positive-women-at-four-postpartum-time-intervals-qualitative-results-from-the-kabeho-study-in-rwanda
#10
Michelle M Gill, Aline Umutoni, Heather J Hoffman, Dieudonne Ndatimana, Gilles F Ndayisaba, Solange Kibitenga, Placidie Mugwaneza, Anita Asiimwe, Emily A Bobrow
As lifelong antiretroviral therapy (ART) for pregnant women is implemented, it is important to understand the attitudes and norms affecting women's postpartum ART adherence. This is a qualitative cross-sectional study of HIV-positive postpartum women (n = 112) enrolled in a 2-year observational prospective cohort in Rwanda. Informed by the Theory of Reasoned Action (TRA), we conducted in-depth interviews with women whose children were 0-6, 7-12, 13-18, or 21-24 months of age to describe factors contributing to adherence and changes over time...
March 30, 2017: AIDS Patient Care and STDs
https://www.readbyqxmd.com/read/28353017/treatment-of-young-adults-with-acute-lymphoblastic-leukemia
#11
REVIEW
Ankit Kansagra, Mark Litzow
Young adults with acute lymphoblastic leukemia are a distinctive category of patients, with substantial difference in disease biology and response to therapy; hence, they pose unique challenges and issues beyond those faced by children and older adults. Despite inferior survival compared to children, there is growing evidence to suggest that young adults have improved outcomes when treated with pediatric-based approaches. With better supportive care and toxicity management and multidisciplinary team and approach, we have made great improvement in outcomes of young adults with ALL...
March 28, 2017: Current Hematologic Malignancy Reports
https://www.readbyqxmd.com/read/28346037/prognostic-significance-of-granulomas-in-children-with-crohn-s-disease
#12
Benjamin Rothschild, Firas Rinawi, Yonatan Herman, Osnat Nir, Raanan Shamir, Amit Assa
OBJECTIVES: Granulomas have long been considered the histological hallmark of Crohn's disease (CD). Currently, there is considerable dispute with regards to their prognostic implications. We aimed to determine the effect of granulomas on phenotypic features and disease's long-term outcomes in a large cohort of pediatric CD patients. MATERIALS AND METHODS: Medical records of pediatric CD patients diagnosed at the Schneider Children's Medical Center were reviewed retrospectively...
June 2017: Scandinavian Journal of Gastroenterology
https://www.readbyqxmd.com/read/28343351/health-related-quality-of-life-hrqol-and-its-correlates-among-community-recruited-children-living-with-hiv-and-uninfected-children-born-to-hiv-infected-parents-in-west-bengal-india
#13
Aritra Das, Roger Detels, Abdelmonem A Afifi, Marjan Javanbakht, Frank J Sorvillo, Samiran Panda
PURPOSE: Helping children living with HIV (CLH) to attain an optimum quality of life is an important goal for HIV programs around the world. Our principal objectives were to determine the association of HIV infection with different domains of health-related quality of life (HRQoL) among 8- to 15-year-old CLH in India and to compare the HRQoL parameters between CLH and HIV-negative children born to HIV-infected parents ("HIV-affected"). We also assessed whether antiretroviral therapy (ART) and CD4 lymphocyte counts were associated with HRQoL among CLH...
March 25, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/28339768/the-transcription-factor-olig2-is-important-for-the-biology-of-diffuse-intrinsic-pontine-gliomas
#14
Jane L Anderson, Ranjithmenon Muraleedharan, Nicole Oatman, Amanda Klotter, Satarupa Sengupta, Ronald R Waclaw, Jianqiang Wu, Rachid Drissi, Lili Miles, Eric H Raabe, Matthew L Weirauch, Maryam Fouladi, Lionel M Chow, Lindsey Hoffman, Mariko DeWire, Biplab Dasgupta
Background.: Diffuse intrinsic pontine glioma (DIPG) is a high-grade brainstem glioma of children with dismal prognosis. There is no single unifying model about the cell of origin of DIPGs. Proliferating cells in the developing human and mouse pons, the site of DIPGs, express neural stem/progenitor cell (NPC) markers, including Sox2, nestin, vimentin, Olig2, and glial fibrillary acidic protein, in an overlapping and non-overlapping manner, suggesting progenitor cell heterogeneity in the pons...
February 23, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28337236/adalimumab-for-endoscopic-and-histopathological-mucosal-healing-in-paediatric-patients-with-moderate-to-severe-crohn-s-disease
#15
Edyta Szymanska, Maciej Dadalski, Wieslawa Grajkowska, Sylwia Szymanska, Maciej Pronicki, Jaroslaw Kierkus
INTRODUCTION: Deep remission, defined as clinical remission with mucosal healing (MH), with anti-tumor necrosis factor (TNF)-α agents is a new target for therapy in Crohn's disease (CD). Provided that the efficacy of infliximab (IFX) for induction of MH in CD has been demonstrated, there are much less data for adalimumab (ADA), and none concerning MH on histopathological examination. AIM: To assess the impact of biological therapy with ADA on both endoscopic and histopathological MH in paediatric patients with CD...
2017: Przegla̜d Gastroenterologiczny
https://www.readbyqxmd.com/read/28333769/the-incidence-of-low-seroimmunity-to-hepatitis-b-virus-in-children-with-inflammatory-bowel-disease
#16
Abhishek Watts, William E Bennett, Jean P Molleston, Sandeep K Gupta, Joseph M Croffie, Shamaila Waseem, Brian A McFerron, Steven J Steiner, Sanjay Kumar, Charles P Vanderpool, Emily C Hon, Molly A Bozic, Girish C Subbarao, Marian D Pfefferkorn
OBJECTIVES: Patients with inflammatory bowel disease (IBD) often receive immunosuppressive therapy which may make them vulnerable to infections such as hepatitis B. We hypothesized that hepatitis B virus (HBV) titers are low in the vaccinated pediatric IBD population. The aims of our study were to identify the incidence of lower titers of hepatitis B surface antibody (HBsAb) and determine which patient factors may be associated with lower HBsAb titers. METHODS: Patients with diagnosis of IBD, ages 5-18 years, were prospectively enrolled...
March 22, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28321612/serial-serum-immunoglobulin-g-igg-trough-levels-in-patients-with-x-linked-agammaglobulinemia-on-replacement-therapy-with-intravenous-immunoglobulin-its-correlation-with-infections-in-indian-children
#17
Deepti Suri, Sagar Bhattad, Avinash Sharma, Anju Gupta, Amit Rawat, Shobha Sehgal, Surjit Singh, Sudhir Gupta
Patients with primary antibody deficiency (PAD) are being increasingly diagnosed in the developing world. However, care of these children continues to remain suboptimal due to financial and social constraints. Immunoglobulin (Ig) trough level is an important predicting factor for infections in children on replacement immunoglobulin therapy. There are no data on this aspect from the developing world. Therefore, we studied serial immunoglobulin G (IgG) trough levels in 14 children with X-linked agammaglobulinemia (XLA) receiving replacement intravenous immunoglobulin (IVIG)...
March 21, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28319603/the-path-of-interchangeability-of-biosimilars-in-pediatric-inflammatory-bowel-disease-quality-before-cost-savings
#18
Dimple Patel, K T Park
The advent of biosimilars in inflammatory bowel disease (IBD) represents an opportunity for cost-savings and increased patient access to effective disease-modifying therapies. While preliminary data in adult IBD and rheumatology patients suggest comparable effectiveness and pharmacokinetics between original biologics and biosimilars, long-term immunogenicity data are unknown. Without this data, conclusions about interchangeability should not be made for pediatric patients with IBD. Children affected by IBD, in particular, are a vulnerable group if automatic substitution and non-medical switching are allowed based on limited data in adult patients...
March 17, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28302745/current-status-and-future-potential-of-transcatheter-interventions-in-congenital-heart-disease
#19
Damien P Kenny, Ziyad M Hijazi
Percutaneous therapies for congenital heart disease have evolved rapidly in the past 3 decades. This has occurred despite limited investment from industry and support from regulatory bodies resulting in a lack of specific device development. Indeed, many devices remain off-label with a best-fit approach often required, spurning an innovative culture within the subspecialty, which had arguably laid the foundation for many of the current and evolving structural heart interventions. Challenges remain, not least encouraging device design focused on smaller infants and the inevitable consequences of somatic growth...
March 17, 2017: Circulation Research
https://www.readbyqxmd.com/read/28296824/multicentric-case-control-study-on-azathioprine-dose-and-pharmacokinetics-in-early-onset-pediatric-inflammatory-bowel-disease
#20
Gabriele Stocco, Stefano Martelossi, Serena Arrigo, Arrigo Barabino, Marina Aloi, Massimo Martinelli, Erasmo Miele, Daniela Knafelz, Claudio Romano, Samuele Naviglio, Diego Favretto, Eva Cuzzoni, Raffaella Franca, Giuliana Decorti, Alessandro Ventura
BACKGROUND: Early-onset inflammatory bowel disease (IBD) is generally aggressive, with a high probability of complications and need of surgery. Despite the introduction of highly effective biological drugs, treatment with azathioprine continues to be important even for early-onset IBD; however, in these patients azathioprine response seems to be reduced. This study evaluated azathioprine doses, metabolite concentrations, and their associations with patients' age in children with IBD treated at 6 tertiary pediatric referral centers...
April 2017: Inflammatory Bowel Diseases
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