keyword
MENU ▼
Read by QxMD icon Read
search

Fabry in children

keyword
https://www.readbyqxmd.com/read/27852300/paediatric-fabry-disease-prognostic-significance-of-ocular-changes-for-disease-severity
#1
Gisela Kalkum, Susanne Pitz, Nesrin Karabul, Michael Beck, Guillem Pintos-Morell, Rossella Parini, Marianne Rohrbach, Svetlana Bizjajeva, Uma Ramaswami
BACKGROUND: Ocular signs of Fabry disease can be seen in the first decade of life. METHODS: We examined the occurrence of ocular signs in 232 paediatric patients in the Fabry Outcome Survey (FOS) international registry and looked for relationships between the presence of eye findings and disease severity as measured by the FOS Mainz severity score index (FOS-MSSI). RESULTS: At least one ocular sign was found in 55/101 (54.5%) girls and 62/131 (47...
November 16, 2016: BMC Ophthalmology
https://www.readbyqxmd.com/read/27824236/hump-height-in-idiopathic-scoliosis-measured-using-a-humpmeter-in-growing-subjects-the-relationship-between-the-hump-height-and-the-cobb-angle-and-the-effect-of-age-on-the-hump-height
#2
Claudio Ferraro, Andrea Venturin, Marco Ferraro, Daniele Fabris Monterumici, Stefano Masiero
BACKGROUND: The comparison between Cobb angle and hump height measured using a humpmeter in idiopathic scoliosis have produced contradictory findings concerning the association between the two variables in growing subjects. AIM: To analyze the relationship between the hump height and the Cobb angle and the effect of age on the first. DESIGN: Cross-sectional, descriptive analytical study. SETTING: A tertiary university hospital...
November 8, 2016: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27617155/the-psychosocial-impact-of-fabry-disease-on-pediatric-patients
#3
Nicolle Bugescu, Paige E Naylor, Kyr Hudson, Christa D Aoki, Matthew J Cordova, Wendy Packman
Fabry disease (FD) is a multisystemic disease that has previously been reported to result in poorer quality of life and psychosocial functioning in impacted adults. However, prior to the current study, limited data were available on the impact of FD in children and adolescents. Therefore, the present study examined the differences of quality of life, psychosocial functioning, and depression in children with FD as compared with a healthy sample. Results indicated that children with FD were experiencing poorer quality of life than their healthy counterparts...
September 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27591925/patients-perspectives-on-newborn-screening-for-later-onset-lysosomal-storage-diseases
#4
Emily C Lisi, Scott Gillespie, Dawn Laney, Nadia Ali
Lysosomal storage diseases (LSDs) are an individually rare but collectively common group of hereditary, progressive, multi-systemic disorders. Recent technological advances have brought newborn screening (NBS) for LSDs to attention in the United States. However, many LSD symptoms present in later childhood or adulthood, with a wide spectrum of severity. Because late-onset symptoms stray from the traditional NBS model, healthcare providers have expressed concerns about potential harm to patients and/or their families...
September 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27307708/an-open-label-clinical-trial-of-agalsidase-alfa-enzyme-replacement-therapy-in-children-with-fabry-disease-who-are-na%C3%A3-ve-to-enzyme-replacement-therapy
#5
Ozlem Goker-Alpan, Nicola Longo, Marie McDonald, Suma P Shankar, Raphael Schiffmann, Peter Chang, Yinghua Shen, Arian Pano
BACKGROUND: Following a drug manufacturing process change, safety/efficacy of agalsidase alfa were evaluated in enzyme replacement therapy (ERT)-naïve children with Fabry disease. METHODS: In an open-label, multicenter, Phase II study (HGT-REP-084; Shire), 14 children aged ≥7 years received 0.2 mg/kg agalsidase alfa every other week for 55 weeks. Primary endpoints: safety, changes in autonomic function (2-hour Holter monitoring). Secondary endpoints: estimated glomerular filtration rate, left ventricular mass index (LVMI), midwall fractional shortening, pharmacodynamic parameters, and patient-reported quality-of-life...
2016: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/27203306/is-mesenteric-lymphadenitis-a-cause-of-ovarian-reserve-reduction-case-report
#6
Ana Karina Bartmann, Victor César de P S do Nascimento, Lucas L M da Silva, Denise Fabri R E Mello, Jessica R Gualberto, Daniela M Bertoncelo, Karla Verônica S Millani, Isabele G Sanchez
Mesenteric lymphadenitis is a clinical condition that affects mostly children and teenagers. Its symptoms include fever, severe abdominal pain, nausea, and, in some cases, diarrhea, constipation, and acute abdomen. This paper describes the case of a 16-year-old patient with mesenteric lymphadenitis submitted to an exploratory laparoscopy for suppurative lymph nodes that evolved to a drastic reduction of ovarian reserve. Because of the patients age, she was offered cryopreservation of her ovarian tissue.
2016: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/27129690/significant-improvement-in-fabry-disease-podocytopathy-after-3%C3%A2-years-of-treatment-with-agalsidase-beta
#7
Shuichi Ito, Masao Ogura, Koichi Kamei, Kentaro Matsuoka, David G Warnock
BACKGROUND: Fabry disease is an X-linked lysosomal disorder caused by decreased activity of α-galactosidase A (GLA). Consequent accumulation of globotriaosylceramide (GL-3) in lysosomes results in damage to a variety of organs, including the kidneys. Enzyme replacement therapy (ERT) is an effective treatment, but whether it should be started before organ damage is evident is a matter of debate. CASE DIAGNOSIS/TREATMENT: A 10-year-old boy who complained of severe sole pain for 3 years had been misdiagnosed with juvenile idiopathic arthritis...
August 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/26880903/gastrointestinal-symptoms-of-patients-with-fabry-disease
#8
Licia Pensabene, Simona Sestito, Angela Nicoletti, Francesca Graziano, Pietro Strisciuglio, Daniela Concolino
In order to characterize gastrointestinal (GI) symptoms of 50 patients with Fabry disease (FD) (22 M; age range: 4-70 y; 35 adults and 15 children), validated questionnaires of GI symptoms were used to diagnose the functional gastrointestinal disorders (FGIDs) of the patients with GI symptoms (33/50 (66%); 25/35 adults and 8/15 children) according to Rome III criteria. In 16/25 of these adults and 2/8 of these children, the symptoms mimicked FGID. The adult subgroup included patients with unspecified functional bowel disorder (n = 9), functional bloating (n = 7), and IBS (n = 5), and the child subgroup included patients with abdominal migraine (n = 1) and IBS (n = 1)...
2016: Gastroenterology Research and Practice
https://www.readbyqxmd.com/read/26546059/the-management-and-treatment-of-children-with-fabry-disease-a-united-states-based-perspective
#9
REVIEW
Robert J Hopkin, John L Jefferies, Dawn A Laney, Victoria H Lawson, Michael Mauer, Matthew R Taylor, William R Wilcox
Fabry disease is an inherited X-linked disorder that presents during childhood in male and female patients. Young patients may initially experience pain, hypohidrosis, and gastrointestinal symptoms. Other manifestations of Fabry disease, such as renal and cardiac disease, manifest later in adolescence or adulthood. In the pediatric population, renal damage is typically subclinical and identifiable only through biopsy. Specialists from the United States with expertise in Fabry disease convened during 2013-2014 in order to develop these consensus guidelines about the management and treatment of children with Fabry disease...
February 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/26479053/-kidney-transplantation-and-inborn-errors-of-metabolism
#10
Irene Capelli, Giuseppe Battaglino, Olga Baraldi, Matteo Ravaioli, Vania Cuna, Ilaria Moretti, Andrea Angeletti, Francesca Mencarelli, Andrea Pasini, Giovanni Montini, Antonio Daniele Pinna, Gaetano La Manna
Inherited kidney diseases constitute at least 150 different disorders and they have an overall prevalence of about 6080 cases per 100,000 in Europe and in USA. At least 10% of adults and nearly all children who progress to renal-replacement therapy have an inherited kidney disease, representing the fifth most common cause of end-stage renal disease after diabetes, hypertension, glomerulonephritis, and pyelonephritis. These conditions include both structural and functional disorders, among which are counted diseases resulting from inborn errors of metabolism (IEM)...
2015: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/26278138/improved-outcome-for-children-and-adolescent-with-acute-lymphoblastic-leukemia-in-the-first-decade-of-the-21st-century-a%C3%A2-report-from-the-slovak-republic
#11
A Kolenova, E Kaiserova, M Makohusova, Z Subova, E Bubanska, I Oravkinova, P Svec, O Fabri, S P Hunger, S Sufliarska, S Horakova, V Mrazova, J Stary
Our aim was to analyze event-free (EFS) and overall survival (OS) among children and adolescents with acute lymphoblastic leukemia (ALL) treated with International BFM Intercontinental trial (ALL IC 2002) therapy in the Slovak Republic. In total, 280 children and adolescent age 1 to 18 years were treated with ALL IC BFM 2002 based therapy from 2002 to 2012, which was divided into two periods. During 2002-2007, when patients were actively enrolled in the ALL IC-BFM 2002 trial, and during 2008-2012 when the trial was closed and patients were treated with the same therapy without randomization...
2015: Neoplasma
https://www.readbyqxmd.com/read/26275228/clinical-research-in-vulnerable-populations-variability-and-focus-of-institutional-review-boards-responses
#12
RANDOMIZED CONTROLLED TRIAL
Bärbel Kästner, Simone Behre, Nadine Lutz, Friederike Bürger, Steffen Luntz, Katrin Hinderhofer, Martin Bendszus, Georg F Hoffmann, Markus Ries
BACKGROUND: Children and patients with cognitive deficits may find it difficult to understand the implication of research. In the European Union (EU), clinical studies outside the EU directives concerning medicinal products or medical devices, i.e., "miscellaneous clinical studies", have no legally mandated timelines for institutional review boards' (IRB) decisions. GOAL: To evaluate the review process of IRBs for two different "miscellaneous" multicenter clinical research protocols involving vulnerable subjects (children and adult stroke patients)...
2015: PloS One
https://www.readbyqxmd.com/read/26074844/methylation-of-nr3c1-is-related-to-maternal-ptsd-parenting-stress-and-maternal-medial-prefrontal-cortical-activity-in-response-to-child-separation-among-mothers-with-histories-of-violence-exposure
#13
Daniel S Schechter, Dominik A Moser, Ariane Paoloni-Giacobino, Ludwig Stenz, Marianne Gex-Fabry, Tatjana Aue, Wafae Adouan, María I Cordero, Francesca Suardi, Aurelia Manini, Ana Sancho Rossignol, Gaëlle Merminod, Francois Ansermet, Alexandre G Dayer, Sandra Rusconi Serpa
Prior research has shown that mothers with Interpersonal violence-related posttraumatic stress disorder (IPV-PTSD) report greater difficulty in parenting their toddlers. Relative to their frequent early exposure to violence and maltreatment, these mothers display dysregulation of their hypothalamic pituitary adrenal axis (HPA-axis), characterized by hypocortisolism. Considering methylation of the promoter region of the glucocorticoid receptor gene NR3C1 as a marker for HPA-axis functioning, with less methylation likely being associated with less circulating cortisol, the present study tested the hypothesis that the degree of methylation of this gene would be negatively correlated with maternal IPV-PTSD severity and parenting stress, and positively correlated with medial prefrontal cortical (mPFC) activity in response to video-stimuli of stressful versus non-stressful mother-child interactions...
2015: Frontiers in Psychology
https://www.readbyqxmd.com/read/26005941/-kidney-transplantation-and-inborn-errors-of-metabolism
#14
Irene Capelli, Giuseppe Battaglino, Olga Baraldi, Matteo Ravaioli, Vania Cuna, Ilaria Moretti, Andrea Angeletti, Francesca Mencarelli, Andrea Pasini, Giovanni Montini, Antonio Daniele Pinna, Gaetano La Manna
Inherited kidney diseases constitute at least 150 different disorders and they have an overall prevalence of about 6080 cases per 100 000 in Europe and in USA. At least 10% of adults and nearly all children who progress to renal-replacement therapy have an inherited kidney disease, representing the fifth most common cause of end-stage renal disease after diabetes, hypertension, glomerulonephritis, and pyelonephritis. These conditions include both structural and functional disorders, among which are counted diseases resulting from inborn errors of metabolism (IEM)...
March 2015: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/25987174/the-attenuated-late-onset-lysosomal-storage-disorders-therapeutic-goals-and-indications-for-enzyme-replacement-treatment-in-gaucher-and-fabry-disease
#15
REVIEW
Carla E M Hollak, Neal J Weinreb
Enzyme replacement therapies have been developed and authorized for commercial use for six different lysosomal storage disorders. For Gaucher disease, Fabry disease and mucopolysaccharidosis type 1, disease-specific treatments have been available for more than a decade. Although long term follow-up data are still sparse, therapeutic goals for patients with Gaucher disease and Fabry disease have been formulated and published for both adults and children. Without adaptation or modification, these goals are often applied in clinical research and in routine patient care across the entire phenotypic spectrum of disease, although in practice, patients commonly manifest high variability in clinical presentation and course of the illness...
March 2015: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/25955246/characterization-of-early-disease-status-in-treatment-naive-male-paediatric-patients-with-fabry-disease-enrolled-in-a-randomized-clinical-trial
#16
RANDOMIZED CONTROLLED TRIAL
Frits A Wijburg, Bernard Bénichou, Daniel G Bichet, Lorne A Clarke, Gabriela Dostalova, Alejandro Fainboim, Andreas Fellgiebel, Cassiano Forcelini, Kristina An Haack, Robert J Hopkin, Michael Mauer, Behzad Najafian, C Ronald Scott, Suma P Shankar, Beth L Thurberg, Camilla Tøndel, Anna Tylki-Szymańska, Uma Ramaswami
TRIAL DESIGN: This analysis characterizes the degree of early organ involvement in a cohort of oligo-symptomatic untreated young patients with Fabry disease enrolled in an ongoing randomized, open-label, parallel-group, phase 3B clinical trial. METHODS: Males aged 5-18 years with complete α-galactosidase A deficiency, without symptoms of major organ damage, were enrolled in a phase 3B trial evaluating two doses of agalsidase beta. Baseline disease characteristics of 31 eligible patients (median age 12 years) were studied, including cellular globotriaosylceramide (GL-3) accumulation in skin (n = 31) and kidney biopsy (n = 6; median age 15 years; range 13-17 years), renal function, and glycolipid levels (plasma, urine)...
2015: PloS One
https://www.readbyqxmd.com/read/25763722/histiocytic-disorders-of-the-chest-imaging-findings
#17
REVIEW
Jitesh Ahuja, Jeffrey P Kanne, Cristopher A Meyer, Sudhakar N J Pipavath, Rodney A Schmidt, Jonathan O Swanson, J David Godwin
Histiocytic disorders of the chest comprise a broad spectrum of diseases. The lungs may be involved in isolation or as part of systemic disease. Some of these disorders are primary and have unknown etiology, and others result from a histiocytic response to a known cause. Among primary histiocytic disorders, pulmonary Langerhans cell histiocytosis (PLCH) is the most common; others include Erdheim-Chester disease and Rosai-Dorfman disease. Adult PLCH occurs almost exclusively in adults aged 20-40 years who smoke...
March 2015: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/25739920/the-neurocognitive-impact-of-fabry-disease-on-pediatric-patients
#18
Nicolle Bugescu, Andrea Alioto, Summer Segal, Matthew Cordova, Wendy Packman
Fabry disease (FD) is an X-linked lysosomal storage disorder that results in progressive multisystemic organ complications. Several studies have examined neurocognitive impairments in adults; however, there is a paucity of research examining neurocognitive functioning in children with FD. This is the first exploratory study to examine the neurocognitive functioning of pediatric patients with FD and to evaluate the effects of enzyme replacement therapy (ERT) on neurocognitive functioning within this population...
April 2015: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/25716342/are-all-cases-of-paediatric-essential-thrombocythaemia-really-myeloproliferative-neoplasms-analysis-of-a-large-cohort
#19
Maria L Randi, Giulia Geranio, Irene Bertozzi, Concetta Micalizzi, Ugo Ramenghi, Fabio Tucci, Lucia D Notarangelo, Saverio Ladogana, Giuseppe Menna, Paola Giordano, Caterina Consarino, Piero Farruggia, Giulio A Zanazzo, Giovanni M Fiori, Roberta Burnelli, Giovanna Russo, Momcilo Jankovich, Edoardo Peroni, Elena Duner, Giuseppe Basso, Fabrizio Fabris, Maria C Putti
Sporadic essential thrombocythaemia (ET) is rare in paediatrics, and the diagnostic and clinical approach to paediatric cases cannot be simply copied from experience with adults. Here, we assessed 89 children with a clinical diagnosis of ET and found that 23 patients (25·8%) had a clonal disease. The JAK2 V617F mutation was identified in 14 children, 1 child had the MPL W515L mutation, and 6 had CALR mutations. The monoclonal X-chromosome inactivation pattern was seen in six patients (two with JAK2 V617F and two with CALR mutations)...
May 2015: British Journal of Haematology
https://www.readbyqxmd.com/read/25552679/criteria-for-evaluating-response-and-outcome-in-clinical-trials-for-children-with-juvenile-myelomonocytic-leukemia
#20
Charlotte M Niemeyer, Mignon L Loh, Annamaria Cseh, Todd Cooper, Christopher C Dvorak, Rebecca Chan, Blanca Xicoy, Ulrich Germing, Seiji Kojima, Atsushi Manabe, Michael Dworzak, Barbara De Moerloose, Jan Starý, Owen P Smith, Riccardo Masetti, Albert Catala, Eva Bergstraesser, Marek Ussowicz, Oskana Fabri, André Baruchel, Hélène Cavé, Michel Zwaan, Franco Locatelli, Henrik Hasle, Marry M van den Heuvel-Eibrink, Christian Flotho, Ayami Yoshimi
Juvenile myelomonocytic leukemia is a rare myeloproliferative disease in young children. While hematopoietic stem cell transplantation remains the only curative therapeutic option for most patients, children with juvenile myelomonocytic leukemia increasingly receive novel agents in phase I-II clinical trials as pre-transplant therapy or therapy for relapse after transplantation. However, response criteria or definitions of outcome for standardized evaluation of treatment effect in patients with juvenile myelomonocytic leukemia are currently lacking...
January 2015: Haematologica
keyword
keyword
63300
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"