keyword
MENU ▼
Read by QxMD icon Read
search

Pediatric Syndromes

keyword
https://www.readbyqxmd.com/read/29913001/efficacy-of-rituximab-vs-tacrolimus-in-pediatric-corticosteroid-dependent-nephrotic-syndrome-a-randomized-clinical-trial
#1
Biswanath Basu, Anja Sander, Birendranath Roy, Stella Preussler, Shilpita Barua, T K S Mahapatra, Franz Schaefer
Importance: Calcineurin inhibitors are an established first-line corticosteroid-sparing therapy for patients with corticosteroid-dependent nephrotic syndrome (CDNS), whereas B-lymphocyte-depleting therapy is mostly used as a rescue for calcineurin inhibitor-resistant cases. The positive efficacy and safety profile of rituximab raises the question of whether it could be used as a first-line alternative to calcineurin inhibitor therapy. Objective: To compare the efficacy of rituximab and tacrolimus in maintaining relapse-free survival among children with CDNS...
June 18, 2018: JAMA Pediatrics
https://www.readbyqxmd.com/read/29909561/molecular-genetic-analysis-for-periodic-fever-syndromes-a-supplemental-role-for-the-diagnosis-of-adult-onset-still-s-disease
#2
Hongbin Li, Irina Abramova, Sandra Chesoni, Qingping Yao
Adult-onset Still's disease (AOSD) represents a systemic autoinflammatory disease (SAID), and its diagnostic criteria are clinical without genetic testing. Given shared manifestations between AOSD and hereditary SAIDs, molecular analysis may help differentiate these diseases. A PubMed literature search was conducted using key words "adult-onset Still's disease," "autoinflammatory disease," and "genetic mutation" between 1970 and February 2018. Articles on genetic mutations in the genes MEFV, TNFRSF1A, mevalonate kinase, or NOD2 for hereditary SAIDs in AOSD/systemic onset juvenile idiopathic arthritis (SJIA) patients were reviewed and analyzed...
June 17, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29909407/familial-forms-of-cushing-syndrome-in-primary-pigmented-nodular-adrenocortical-disease-presenting-with-short-stature-and-insidious-symptoms-a-clinical-series
#3
Constanza Navarro Moreno, Amaury Delestienne, Etienne Marbaix, Selda Aydin, Konstanze Hörtnagel, Sarah Lechner, Yves Sznajer, Véronique Beauloye, Dominique Maiter, Philippe A Lysy
Cushing syndrome (CS) is a rare disease in children, frequently associated with subtle or periodic symptoms that may delay its diagnosis. Weight gain and growth failure, the hallmarks of hypercortisolism in pediatrics, may be inconsistent, especially in ACTH-independent forms of CS. Primary pigmented nodular adrenocortical disease (PPNAD) is the rarest form of ACTH-independent CS, and can be associated with endocrine and nonendocrine tumors, forming the Carney complex (CNC). Recently, phenotype/genotype correlations have been described with particular forms of CNC where PPNAD is isolated or associated only with skin lesions...
June 15, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29908370/gender-differences-in-patients-with-brugada-syndrome-and-arrhythmic-events-data-from-a-survey-on-arrhythmic-events-in-678-patients
#4
Anat Milman, Jean-Baptiste Gourraud, Antoine Andorin, Pieter G Postema, Frederic Sacher, Philippe Mabo, Giulio Conte, Carla Giustetto, Georgia Sarquella-Brugada, Aviram Hochstadt, Sung-Hwan Kim, Jimmy Jm Juang, Shingo Maeda, Yoshihide Takahashi, Tsukasa Kamakura, Takeshi Aiba, Eran Leshem, Yoav Michowitz, Michael Rahkovich, Yuka Mizusawa, Elena Arbelo, Zhengrong Huang, Isabelle Denjoy, Yanushi D Wijeyeratne, Carlo Napolitano, Ramon Brugada, Ruben Casado-Arroyo, Jean Champagne, Leonardo Calo, Jacob Tfelt-Hansen, Silvia G Priori, Masahiko Takagi, Christian Veltmann, Pietro Delise, Domenico Corrado, Elijah R Behr, Fiorenzo Gaita, Gan-Xin Yan, Josep Brugada, Antoine Leenhardt, Arthur A M Wilde, Pedro Brugada, Kengo F Kusano, Kenzo Hirao, Gi-Byoung Nam, Vincent Probst, Bernard Belhassen
BACKGROUND: There is limited information on gender differences in patients with Brugada syndrome (BrS) who experienced arrhythmic events (AEs). OBJECTIVES: To compare clinical, electrocardiographic (ECG), electrophysiologic (EP) and genetic characteristics between males and females in BrS-patients with their first AE. METHODS: The multicenter Survey on AE in BrS (SABRUS) collected data on first AE in 678 BrS-patients including 619 (91.3%) males and 59 (8...
June 13, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29908036/acquired-von-willebrand-syndrome-in-congenital-heart-disease-surgery-results-from-an-observational-case-series
#5
Vanya Icheva, Martina Nowak-Machen, Ulrich Budde, Karl Jaschonek, Felix Neunhoeffer, Matthias Kumpf, Michael Hofbeck, Christian Schlensak, Gesa Wiegand
BACKGROUND: Cardiac surgery of the newborn and infant with complex congenital heart disease (CHD) is associated with a high rate of intraoperative bleeding complications. CHD-related anatomic features such as valve stenoses or patent arterial ducts can lead to enhanced shear stress in blood stream and thus cause acquired von Willebrand syndrome (aVWS). OBJECTIVE: To evaluate the intraoperative incidence and impact of aVWS after cardiopulmonary bypass (CPB) in neonates and infants with complex CHD...
June 16, 2018: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/29906005/adult-onset-papular-purpuric-gloves-and-socks-syndrome
#6
Monica Rosales Santillan, Jessica B Dietert, Richard Jahan-Tigh
Papular purpuric gloves and socks syndrome (PPGSS) is a self-limited exanthem that presents as painful or pruritic edema, erythema, petechiae, and purpura of the palms and soles with occasional extension to the dorsal hands and feet. The majority of PPGSS cases reported in the literature are associated with parvovirus B19 and occur in children and young adults. In a recent literature search, there were 11 PPGSS cases in adults with none reporting Epstein-Barr virus (EBV) as a viral etiology. However, there have been PPGSS cases related to EBV in children...
April 15, 2018: Dermatology Online Journal
https://www.readbyqxmd.com/read/29905942/quality-of-life-in-patients-with-proton-treated-pediatric-medulloblastoma-results-of-a-prospective-assessment-with-5-year-follow-up
#7
Sophia C Kamran, Saveli I Goldberg, Karen A Kuhlthau, Miranda P Lawell, Elizabeth A Weyman, Sara L Gallotto, Clayton B Hess, Mary S Huang, Alison M Friedmann, Annah N Abrams, Shannon M MacDonald, Margaret B Pulsifer, Nancy J Tarbell, David H Ebb, Torunn I Yock
BACKGROUND: To the authors' knowledge, health-related quality of life (HRQOL) outcomes are not well described in patients with medulloblastoma. The use of proton radiotherapy (RT) may translate into an improved HRQOL. In the current study, the authors report long-term HRQOL in patients with proton-treated pediatric medulloblastoma. METHODS: The current study was a prospective cohort HRQOL study of patients with medulloblastoma who were treated with proton RT and enrolled between August 5, 2002, and October 8, 2015...
June 15, 2018: Cancer
https://www.readbyqxmd.com/read/29905398/comparison-of-fixed-versus-traditional-weight-based-dosing-of-rasburicase-in-a-pediatric-population
#8
Dimitrios A Savva, Nicole Herrera, Radha Rohatgi
BACKGROUND: The American Society of Clinical Oncology guidelines recommend rasburicase for the treatment of pediatric patients with hyperuricemia at risk of tumor lysis syndrome (TLS) using a weight-based dose of 0.1-0.2 mg/kg once daily for 1-7 days. However, there has been a trend in practice due to recent data showing benefit using a fixed-dose approach. The purpose of this study was to evaluate the efficacy and safety between fixed and weight-based dosing of rasburicase in a pediatric population...
June 15, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29903749/leveraging-ancestral-heterogeneity-to-map-shared-genetic-risk-loci-in-pediatric-steroid-sensitive-nephrotic-syndrome
#9
EDITORIAL
Rebecca Hjorten, Karl Skorecki
No abstract text is available yet for this article.
June 14, 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29903748/transethnic-genome-wide-analysis-reveals-immune-related-risk-alleles-and-phenotypic-correlates-in-pediatric-steroid-sensitive-nephrotic-syndrome
#10
Hanna Debiec, Claire Dossier, Eric Letouzé, Christopher E Gillies, Marina Vivarelli, Rosemary K Putler, Elisabet Ars, Evelyne Jacqz-Aigrain, Valery Elie, Manuela Colucci, Stéphanie Debette, Philippe Amouyel, Siham C Elalaoui, Abdelaziz Sefiani, Valérie Dubois, Tabassome Simon, Matthias Kretzler, Jose Ballarin, Francesco Emma, Matthew G Sampson, Georges Deschênes, Pierre Ronco
Background Steroid-sensitive nephrotic syndrome (SSNS) is a childhood disease with unclear pathophysiology and genetic architecture. We investigated the genomic basis of SSNS in children recruited in Europe and the biopsy-based North American NEPTUNE cohort. Methods We performed three ancestry-matched, genome-wide association studies (GWAS) in 273 children with NS (Children Cohort Nephrosis and Virus [NEPHROVIR] cohort: 132 European, 56 African, and 85 Maghrebian) followed by independent replication in 112 European children, transethnic meta-analysis, and conditional analysis...
June 14, 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29903452/functional-topography-of-the-human-cerebellum
#11
Catherine J Stoodley, Jeremy D Schmahmann
Accumulating evidence points to a critical role for the human cerebellum in both motor and nonmotor behaviors. A core tenet of this new understanding of cerebellar function is the existence of functional subregions within the cerebellum that differentially support motor, cognitive, and affective behaviors. This cerebellar functional topography - based on converging evidence from neuroanatomic, neuroimaging, and clinical studies - is evident in both adult and pediatric populations. The sensorimotor homunculi in the anterior lobe and lobule VIII established in early tract tracing and electrophysiologic studies are evident in both task-based and resting-state human functional imaging studies...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29899774/acute-disseminated-encephalomyelitis-masquerading-as-pediatric-stroke-case-report
#12
Varsha H Chauhan, Richa Chaudhary, Payal Meshram
Acute disseminated encephalomyelitis (ADEM) is an acute monophasic syndrome caused by immune-mediated inflammatory demyelination, often associated with immunization or viral illness. ADEM is associated with multiple neurological symptoms. We are presenting a case of ADEM with stroke, which responded very well to high-dose steroids. Here we report a case of ADEM, masquerading as pediatric stroke.
January 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29898974/practice-guideline-update-summary-efficacy-and-tolerability-of-the-new-antiepileptic-drugs-ii-treatment-resistant-epilepsy-report-of-the-guideline-development-dissemination-and-implementation-subcommittee-of-the-american-academy-of-neurology-and-the-american
#13
Andres M Kanner, Eric Ashman, David Gloss, Cynthia Harden, Blaise Bourgeois, Jocelyn F Bautista, Bassel Abou-Khalil, Evren Burakgazi-Dalkilic, Esmeralda Llanas Park, John Stern, Deborah Hirtz, Mark Nespeca, Barry Gidal, Edward Faught, Jacqueline French
OBJECTIVE: To update the 2004 American Academy of Neurology guideline for managing treatment-resistant (TR) epilepsy with second- and third-generation antiepileptic drugs (AEDs). METHODS: 2004 criteria were used to systemically review literature (January 2003 to November 2015), classify pertinent studies according to the therapeutic rating scheme, and link recommendations to evidence strength. RESULTS: Forty-two articles were included. RECOMMENDATIONS: The following are established as effective to reduce seizure frequency (Level A): immediate-release pregabalin and perampanel for TR adult focal epilepsy (TRAFE); vigabatrin for TRAFE (not first-line treatment); rufinamide for Lennox-Gastaut syndrome (LGS) (add-on therapy)...
June 13, 2018: Neurology
https://www.readbyqxmd.com/read/29897844/pharmacokinetic-drug-evaluation-of-rifaximin-for-treatment-of-diarrhea-predominant-irritable-bowel-syndrome
#14
Eugenia Bruzzese, Marcella Pesce, Giovanni Sarnelli, Alfredo Guarino
INTRODUCTION: Rifaximin is a poorly absorbable antibiotic with a broad-spectrum activity against both Gram-negative and -positive bacteria. It is active in the small intestine due to its high bile solubility, whereas in the aqueous environment of the colon, it shows limited efficacy against highly susceptible bacteria. These unique pharmacokinetic properties limit its systemic effects and can correct gut microflora imbalances. Thus, rifaximin has become a major therapeutic agent in several gastrointestinal diseases in which an imbalance in gut microflora may play a role, including diarrhea predominant irritable bowel syndrome (IBS-D)...
June 13, 2018: Expert Opinion on Drug Metabolism & Toxicology
https://www.readbyqxmd.com/read/29896152/a-review-of-scales-to-evaluate-sleep-disturbances-in-movement-disorders
#15
REVIEW
Mónica M Kurtis, Roberta Balestrino, Carmen Rodriguez-Blazquez, Maria João Forjaz, Pablo Martinez-Martin
Patients with movement disorders have a high prevalence of sleep disturbances that can be classified as (1) nocturnal sleep symptoms, such as insomnia, nocturia, restless legs syndrome (RLS), periodic limb movements (PLM), obstructive sleep apnea (OSA), and REM sleep behavior disorder; and (2) diurnal problems that include excessive daytime sleepiness (EDS) and sleep attacks. The objective of this review is to provide a practical overview of the most relevant scales that assess these disturbances to guide the choice of the most useful instrument/s depending on the line of research or clinical focus...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29895855/prevalence-and-properties-of-intragenic-copy-number-variation-in-mendelian-disease-genes
#16
Rebecca Truty, Joshua Paul, Michael Kennemer, Stephen E Lincoln, Eric Olivares, Robert L Nussbaum, Swaroop Aradhya
PURPOSE: We investigated the frequencies and characteristics of intragenic copy-number variants (CNVs) in a deep sampling of disease genes associated with monogenic disorders. METHODS: Subsets of 1507 genes were tested using next-generation sequencing to simultaneously detect sequence variants and CNVs in >143,000 individuals referred for genetic testing. We analyzed CNVs in gene panels for hereditary cancer syndromes and cardiovascular, neurological, or pediatric disorders...
June 12, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29895725/pediatric-headache-clinic-model-implementation-of-integrative-therapies-in-practice
#17
REVIEW
Anna Esparham, Anne Herbert, Emily Pierzchalski, Catherine Tran, Jennifer Dilts, Madeline Boorigie, Tammie Wingert, Mark Connelly, Jennifer Bickel
The demand for integrative medicine has risen in recent years as research has demonstrated the efficacy of such treatments. The public has also become more conscientious of the potential limitations of conventional treatment alone. Because primary headache syndromes are often the culmination of genetics, lifestyle, stress, trauma, and environmental factors, they are best treated with therapies that are equally multifaceted. The Children’s Mercy Hospital, Kansas City, Missouri Headache Clinic has successfully incorporated integrative therapies including nutraceuticals, acupuncture, aromatherapy, biofeedback, relaxation training, hypnosis, psychology services, and lifestyle recommendations for headache management...
June 12, 2018: Children
https://www.readbyqxmd.com/read/29895017/transition-in-pediatric-and-adolescent-hypogonadal-girls-gynecological-aspects-estrogen-replacement-therapy-and-contraception
#18
Anette Tønnes Pedersen, Line Cleemann, Katharina M Main, Anders Juul
Hypogonadism may be suspected if puberty is delayed. Pubertal delay may be caused by a normal physiological variant, by primary ovarian insufficiency (Turner syndrome), or reflect congenital hypogonadotropic hypogonadism (HH; genetic) or acquired HH (brain lesions). Any underlying chronic disease like inflammatory bowel disease, celiac disease, malnutrition (anorexia or orthorexia), or excessive physical activity may also result in functional HH. Thus, girls with delayed puberty should be evaluated for an underlying pathology before any treatment, including oral contraception, is initiated...
2018: Endocrine Development
https://www.readbyqxmd.com/read/29893624/developmental-disorders-and-medical-complications-among-infants-with-subclinical-intrauterine-opioid-exposures
#19
Eric S Hall, Jennifer M McAllister, Scott L Wexelblatt
The objective was to compare diagnosis rates representing developmental outcomes and medical complications between infants with intrauterine opioid exposures who did not receive pharmacologic treatment for neonatal abstinence syndrome at the time of birth and infants for whom no exposure to substances of abuse were detected. This retrospective, descriptive study included approximately 95% of Hamilton County, Ohio resident births in 2014 and 2015. Universal maternal drug test results, performed at the time of birth, were documented and linked to electronic health records representing pediatric primary and subspecialty follow-up care as well as urgent care, emergency care, and inpatient services provided by Cincinnati Children's Hospital Medical Center through 2017, when all children were at least 24 months old...
June 12, 2018: Population Health Management
https://www.readbyqxmd.com/read/29892969/dimensional-analysis-of-personality-in-adolescents-with-suicidal-behavior
#20
Francisco Villar-Cabeza, Enrique Esnaola-Letemendia, Tomás Blasco-Blasco, Tania Prieto-Toribio, Mireia Vergé-Muñoz, Mar Vila-Grifoll, Bernardo Sánchez-Fernández, Carmina Castellano-Tejedor
OBJECTIVES: This study is aimed at validating the dimensional internalizing and externalizing approach to personality in a sample of adolescents with suicidal behavior and analyzing the psychopathological and syndromic differences between adolescents from each dimension. METHOD: It is a descriptive and cross-sectional study of 75 adolescents (75% women) who attended the emergency service of a pediatric hospital due to suicidal behavior. Sociodemographic, clinical and psychopathological data and personality profiles (MACI) were gathered...
May 2018: Actas Españolas de Psiquiatría
keyword
keyword
33798
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"