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https://www.readbyqxmd.com/read/29453776/syndromic-sebaceous-nevus-current-findings
#1
Oumama El Ezzi, Anthony S de Buys Roessingh, Michèle Bigorre, Guillaume Captier
BACKGROUND: Sebaceous nevus is a congenital malformation of the skin that usually occurs on the scalp or face. Syndromic forms do rarely exist with associated cerebral and ocular malformations. The skin lesions are pale at birth and become irregular by puberty. In the adult patient, tumors (usually benign) develop from sebaceous nevus. Their surgical excision during childhood can give a better result in terms of the definitive scar. OBJECTIVES: The aim of this study is to analyze our cases of syndromic sebaceous hamartoma, perform a review of the existing literature, and propose guidelines for the therapeutic plan...
February 16, 2018: International Journal of Dermatology
https://www.readbyqxmd.com/read/29453317/histone-h3-3k27m-mobilizes-multiple-cancer-testis-ct-antigens-in-pediatric-glioma
#2
Houliang Deng, Jianming Zeng, Ting Zhang, Longcai Gong, Hongjie Zhang, Edwin Cheung, Chris Jones, Gang Li
Lysine to Methionine mutations at position 27 (K27M) in the histone H3 (H3.3 and H3.1) are highly prevalent in pediatric high-grade gliomas (HGG) that arise in the midline of the central nervous system. H3K27M perturbs the activity of polycomb repressor complex 2 (PRC2) and correlates with DNA hypomethylation; however, the pathways whereby H3K27M drive the development of pediatric HGG remain poorly understood. To understand the mechanism of pediatric HGG development driven by H3.3K27M and discover potential therapeutic targets or biomarkers, we established pediatric glioma cell model systems harboring H3...
February 16, 2018: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/29452454/macular-edema-in-childhood-uveitis
#3
Justus G Garweg
BACKGROUND: Pediatric uveitis is associated with a high incidence of severe and frequently permanent visual loss. This article summarizes the current understanding of the disease and the therapeutic options that are available to improve treatment outcomes. METHODS: A Medline search spanning the last 10 years was undertaken using the key terms "pediatric uveitis" or "childhood uveitis" and "macular edema". Articles which appertained to case reports or small case series were excluded from consideration, whereas those in which the opinions of experts were expressed, as well as reviews, were not...
February 16, 2018: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/29450676/comorbid-obstructive-sleep-apnea-and-increased-risk-for-sickle-cell-disease-morbidity
#4
Tal Katz, Jeffrey Schatz, Carla W Roberts
PURPOSE: Sickle cell disease (SCD) imparts an increased risk for obstructive sleep apnea (OSA) in childhood. Studies of pediatric SCD have identified an increased risk for pain and neurologic complications with comorbid OSA. We determined the rate of a broad range of SCD-related medical complications to better characterize the spectrum of SCD complications related to OSA. METHODS: Retrospective chart review at a single hematology clinic identified 641 youth with SCD who received consistent screenings for OSA as part of routine hematological health maintenance visits over an 11-year period...
February 15, 2018: Sleep & Breathing, Schlaf & Atmung
https://www.readbyqxmd.com/read/29450637/canakinumab-treatment-in-children-with-familial-mediterranean-fever-report-from-a-single-center
#5
Fatma Yazılıtaş, Özlem Aydoğ, Sare Gülfem Özlü, Evrim Kargın Çakıcı, Tülin Güngör, Fehime Kara Eroğlu, Gökçe Gür, Mehmet Bülbül
Familial Mediterranean fever (FMF), the most common hereditary autoinflammatory disorder is characterized by recurrent episodes of fever, serositis, arthritis. The major long-term result is amyloidosis. Colchicine remains the principle of the treatment; it not only prevents the acute attacks but also prevents the long-term complications such as amyloidosis; 5-10% of the patients are unresponsive to treatment. Recently new therapeutic options as anti-interleukin 1 agents are successfully used for the patients who do not respond to colchicine treatment...
February 15, 2018: Rheumatology International
https://www.readbyqxmd.com/read/29449049/extended-spectrum-%C3%AE-lactamase-producing-enterobacteriaceae-national-study-of-antimicrobial-treatment-for-pediatric-urinary-tract-infection
#6
M Lagree, S Bontemps, R Dessein, F Angoulvant, F Madhi, A Martinot, R Cohen, F Dubos
OBJECTIVE: To evaluate clinical practices for ESBL-producing urinary tract infection (UTI) in France. METHODS: We performed an observational, retrospective, cross-sectional, hospital-based study in 22 pediatric departments of university or secondary care hospitals. We collected data of the last five patients presenting with ESBL-producing UTI in 2012 and the physicians' therapeutic approach to two case vignettes of acute non-septic ESBL-producing pyelonephritis (7-month-old girl) and cystitis (30-month-old girl)...
February 12, 2018: Médecine et Maladies Infectieuses
https://www.readbyqxmd.com/read/29447415/motivational-interviewing-to-increase-outpatient-attendance-for-adolescent-psychiatric-patients
#7
Laurel Chiappetta, Stacy Stark, Khadejah F Mahmoud, Kyle R Bahnsen, Ann M Mitchell
Motivational interviewing (MI) is a therapeutic technique that has been demonstrated to increase adherence to various treatment regimens. Nonattendance at outpatient appointments is associated with read-mission to psychiatric hospitals. The purpose of the current study was to examine the effectiveness of MI in promoting treatment adherence and increasing pediatric attendance rates at patients' first follow-up appointment after inpatient admission. A sample of 111 patients discharged from one of two child and adolescent units at an urban, inpatient psychiatric hospital in Southwestern Pennsylvania participated in the MI discharge process...
February 15, 2018: Journal of Psychosocial Nursing and Mental Health Services
https://www.readbyqxmd.com/read/29446798/life-threatening-headaches-in-children-clinical-approach-and-therapeutic-options
#8
Nagma Dalvi, Lalitha Sivaswamy
Life-threatening headaches in children can present in an apoplectic manner that garners immediate medical attention, or in an insidious, more dangerous form that may go unnoticed for a relatively long period of time. The recognition of certain clinical characteristics that accompany the headache should prompt recognition and referral to an institution equipped with neuroimaging facilities, pediatric neurosurgeons, and neurologists. Thunderclap headaches, which reach a peak within a very short period of time, may be the presenting feature of conditions such as arterial dissection, venous sinus thrombosis, and reversible cerebral vasoconstriction syndrome, which can be addressed by specific pharmacological options instituted in an intensive care setting...
February 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29445192/spry2-is-a-novel-met-interactor-that-regulates-metastatic-potential-and-differentiation-in-rhabdomyosarcoma
#9
Masum Saini, Aakanksha Verma, Sam J Mathew
Rhabdomyosarcoma (RMS) is a predominantly pediatric soft-tissue cancer where the tumor cells exhibit characteristics of the developing skeletal muscle, and the two most common sub-types are embryonal and alveolar RMS. Elevated activation of the receptor tyrosine kinase (RTK) MET is frequent in RMS and is thought to cause increased tumor metastasis and lack of differentiation. However, the reasons underlying dysregulated MET expression and activation in RMS are not well understood. Therefore, we explored the role of Sprouty 2 (SPRY2), a modulator of RTK signaling, in regulating MET...
February 14, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29443850/does-an-algorithmic-approach-to-using-brachytherapy-and-external-beam-radiation-result-in-good-function-local-control-rates-and-low-morbidity-in-patients-with-extremity-soft-tissue-sarcoma
#10
Jason Klein, Alex Ghasem, Samuel Huntley, Nathan Donaldson, Martin Keisch, Sheila Conway
BACKGROUND: High-dose-rate brachytherapy (HDR-BT) and external-beam radiation therapy (EBRT) are two modalities used in the treatment of soft tissue sarcoma. Previous work at our institution showed early complications and outcomes for patients treated with HDR-BT, EBRT, or a combination of both radiation therapy modalities. As the general indications for each of these approaches to radiation therapy differ, it is important to evaluate the use of each in an algorithmic way, reflecting how they are used in contemporary practice at sites that use these treatments...
March 2018: Clinical Orthopaedics and related Research
https://www.readbyqxmd.com/read/29442054/mrna-expression-profiling-of-histone-modifying-enzymes-in-pediatric-acute-monoblastic-leukemia
#11
Pei-Fang Xiao, Yan-Fang Tao, Shao-Yan Hu, Lan Cao, Jun Lu, Jian Wang, Xing Feng, Jian Pan, Yi-Huan Chai
Histone modification is dysregulated in various types of cancers, including hematological malignancies. However, the expression profile of histone-modifying enzymes in pediatric acute monoblastic leukemia (AML FAB M5) has not been investigated. In this study, we evaluated the mRNA expression profile of 85 genes that encode enzymes involved in histone-modification in 27 pediatric AML FAB M5 samples by using a novel real-time PCR array. We obtained a gene cluster consisting of a total of 28 genes (15 up-regulated genes and 13 down-regulated genes)...
March 1, 2017: Die Pharmazie
https://www.readbyqxmd.com/read/29440993/increasing-agrin-function-antagonizes-muscle-atrophy-and-motor-impairment-in-spinal-muscular-atrophy
#12
Marina Boido, Elena De Amicis, Valeria Valsecchi, Marco Trevisan, Ugo Ala, Markus A Ruegg, Stefan Hettwer, Alessandro Vercelli
Spinal muscular atrophy (SMA) is a pediatric genetic disease, characterized by motor neuron (MN) death, leading to progressive muscle weakness, respiratory failure, and, in the most severe cases, to death. Abnormalities at the neuromuscular junction (NMJ) have been reported in SMA, including neurofilament (NF) accumulation at presynaptic terminals, immature and smaller than normal endplates, reduced transmitter release, and, finally, muscle denervation. Here we have studied the role of agrin in SMAΔ7 mice, the experimental model of SMAII...
2018: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/29440906/percutaneous-autologous-bone-marrow-transplantation-for-the-treatment-of-delayed-union-of-limb-bone-in-children
#13
Jun Wu, Hongxi Guo, Xing Liu, Ming Li, Yujiang Cao, Xiangyang Qu, Hai Zhou, Liuqi Weng
Background and purpose: Percutaneous autologous bone marrow transplantation (PABMT) is a minimally invasive therapeutic strategy for the treatment of delayed bone union in adults, which has been confirmed by many studies. However, there is no report on PABMT application in pediatric orthopedic surgery. The aim of this article was to analyze the therapeutic effect of PABMT in children with delayed union of limb bone and its influence in relation to delayed bone union therapy, transplantation period, patients' sex, fracture location, and fracture fixation...
2018: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/29439587/clinical-management-of-pediatric-achalasia
#14
Marinde van Lennep, Michiel P van Wijk, Taher I Omari, Marc A Benninga, Maartje M J Singendonk
Achalasia is a rare esophageal motility disorder. Much of the literature is based on the adult population. In adults, guidance of therapeutic approach by manometric findings has led to improvement in patient outcome. Promising results have been achieved with novel therapies such as PerOral Endoscopic Myotomy (POEM). Areas covered: In this review, we provide an overview of the novel diagnostic and therapeutic tools for achalasia management and in what way they will relate to the future management of pediatric achalasia...
February 13, 2018: Expert Review of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/29435139/quantitative-high-throughput-phenotypic-screening-of-pediatric-cancer-cell-lines-identifies-multiple-opportunities-for-drug-repurposing
#15
Min Shen, Rosita Asawa, Ya-Qin Zhang, Elizabeth Cunningham, Hongmao Sun, Alexander Tropsha, William P Janzen, Eugene N Muratov, Stephen J Capuzzi, Sherif Farag, Ajit Jadhav, Julie Blatt, Anton Simeonov, Natalia J Martinez
Drug repurposing approaches have the potential advantage of facilitating rapid and cost-effective development of new therapies. Particularly, the repurposing of drugs with known safety profiles in children could bypass or streamline toxicity studies. We employed a phenotypic screening paradigm on a panel of well-characterized cell lines derived from pediatric solid tumors against a collection of ∼3,800 compounds spanning approved drugs and investigational agents. Specifically, we employed titration-based screening where compounds were tested at multiple concentrations for their effect on cell viability...
January 12, 2018: Oncotarget
https://www.readbyqxmd.com/read/29434937/prognostic-value-and-functional-role-of-rock2-in-pediatric-ewing-sarcoma
#16
Gabriela Maciel Vieira, Gabriela Molinari Roberto, Régia Caroline Lira, Edgard Eduard Engel, Luiz Gonzaga Tone, María Sol Brassesco
Ewing's sarcoma (EWS) is a highly aggressive bone cancer that affects children and adolescents. Despite advances in multimodal management, 5-year event-free survival rates for patients presenting with metastases at diagnosis remain at 25%. As key regulators of actin organization, the Rho-associated coiled-coil containing protein kinases, ROCK1 and ROCK2, have been associated with cancer dissemination and poorer prognosis. Recently, in vitro data indicating ROCK2 as a molecular target for the treatment of EWS has been presented...
February 2018: Oncology Letters
https://www.readbyqxmd.com/read/29432240/leukodystrophies
#17
Amy T Waldman
PURPOSE OF REVIEW: The leukodystrophies, typically considered incurable neurodegenerative disorders, are often diagnosed after irreversible central and peripheral nervous system injury has occurred. Early recognition of these disorders is imperative to enable potential therapeutic interventions. This article provides a summary of the symptoms of and diagnostic evaluation for leukodystrophies, along with the currently available therapies and recent advances in management. RECENT FINDINGS: The leukodystrophies are a rapidly expanding field because of advances in neuroimaging and genetics; however, recognition of the clinical and biochemical features of a leukodystrophy is essential to accurately interpret an abnormal MRI or genetic result...
February 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29432078/endogenous-tumor-suppressor-microrna-193b-therapeutic-and-prognostic-value-in-acute-myeloid-leukemia
#18
Raj Bhayadia, Kathrin Krowiorz, Nadine Haetscher, Razan Jammal, Stephan Emmrich, Askar Obulkasim, Jan Fiedler, Adrian Schwarzer, Arefeh Rouhi, Michael Heuser, Susanne Wingert, Sabrina Bothur, Konstanze Döhner, Tobias Mätzig, Michelle Ng, Dirk Reinhardt, Hartmut Döhner, C Michel Zwaan, Marry van den Heuvel Eibrink, Dirk Heckl, Maarten Fornerod, Thomas Thum, R Keith Humphries, Michael A Rieger, Florian Kuchenbauer, Jan-Henning Klusmann
Purpose Dysregulated microRNAs are implicated in the pathogenesis and aggressiveness of acute myeloid leukemia (AML). We describe the effect of the hematopoietic stem-cell self-renewal regulating miR-193b on progression and prognosis of AML. Methods We profiled miR-193b-5p/3p expression in cytogenetically and clinically characterized de novo pediatric AML (n = 161) via quantitative real-time polymerase chain reaction and validated our findings in an independent cohort of 187 adult patients. We investigated the tumor suppressive function of miR-193b in human AML blasts, patient-derived xenografts, and miR-193b knockout mice in vitro and in vivo...
February 12, 2018: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29429058/immunosuppressive-monocytes-cd14-hla-dr-low-increase-in-childhood-precursor-b-cell-acute-lymphoblastic-leukemia-after-induction-chemotherapy
#19
D S Lima, R P G Lemes, D M Matos
In tumor microenvironment, immunosuppression is a common event and results from the inhibition of activated immune cells and generation of cells with immunosuppressive capacity, as some subtypes of monocytes. The aim of this study was to evaluate the presence of immunosuppressive CD14 + /HLA-DR low/- monocytes in pediatric patients with the diagnosis of B-cell acute lymphoblastic leukemia (B-ALL) and, moreover, verify whether the chemotherapeutic treatment has any effect on these cells. Peripheral blood (PB) and bone marrow (BM) samples were collected from 15 untreated pediatric patients...
February 10, 2018: Medical Oncology
https://www.readbyqxmd.com/read/29428506/8-year-retrospective-analysis-of-intravenous-arginine-therapy-for-acute-metabolic-strokes-in-pediatric-mitochondrial-disease
#20
Rebecca D Ganetzky, Marni J Falk
BACKGROUND: Intravenous (IV) arginine has been reported to ameliorate acute metabolic stroke symptoms in adult patients with Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-like Episodes (MELAS) syndrome, where its therapeutic benefit is postulated to result from arginine acting as a nitric oxide donor to reverse vasospasm. Further, reduced plasma arginine may occur in mitochondrial disease since the biosynthesis of arginine's precursor, citrulline, requires ATP. Metabolic strokes occur across a wide array of primary mitochondrial diseases having diverse molecular etiologies that are likely to share similar pathophysiologic mechanisms...
February 2, 2018: Molecular Genetics and Metabolism
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