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Fabry in children

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https://www.readbyqxmd.com/read/28176508/a-structured-therapeutic-education-program-for-children-and-adolescents-with-type-1-diabetes-an-analysis-of-the-efficacy-of-the-pediatric-education-for-diabetes-project
#1
Alessandra Mauri, Susanna Schmidt, Valentina Sosero, Maria Sambataro, Laura Nollino, Francesco Fabris, Anna Corò, Antonella Scantamburlo, Michela Cazziola-Merlotto, Tania Ciani, Michele Tessarin, Agostino Paccagnella
BACKGROUND: Therapeutic education for Type 1 Diabetes involves the process of transmitting knowledge and developing the skills and behavior required to treat the disease. guidelines agree on stressing the importance of therapeutic educational intervention in teaching self-management skills to children and adolescents with Type 1 Diabetes (T1D). This study presents the results of the "Pediatric Education for Type 1 Diabetes (T1D)" (PED) project, specifically designed for children and adolescents aged 6 to 16, and structured on guidelines indications, as part of a broader clinical-educational intervention for Type 1 diabetes...
February 7, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28149664/when-arthralgia-is-not-arthritis
#2
Juan Politei, Graciela Remondino, Ricardo Heguilen, Eric Wallace, Consuelo Durand, Andrea Schenone
The presence of distal extremity pain in children and adolescents usually triggers the search of rheumatologic diseases without considering non-rheumatologic causes of joint pain. Approaching distal extremity pain with a complete differential diagnosis, including non-rheumatologic entities, may hasten diagnosis, thus decreasing cost and aiding in earlier initiation of appropriate therapy. To present a case of a patient who after years of work up of arthralgia, which was actually attributed to rheumatologic causes, had an inherited metabolic disease...
December 2016: European Journal of Rheumatology
https://www.readbyqxmd.com/read/28108302/biomarkers-associated-with-clinical-manifestations-in-fabry-disease-patients-with-a-late-onset-cardiac-variant-mutation
#3
Christiane Auray-Blais, Pamela Lavoie, Michel Boutin, Aimé Ntwari, Ting-Rong Hsu, Chun-Kai Huang, Dau-Ming Niu
BACKGROUND: Fabry disease is a lysosomal storage disorder with an incidence of 1:1600 for the late-onset IVS4+919G>A cardiac variant mutation in Taiwan. Signs and symptoms of this cardiac variant include left ventricular hypertrophy, mitral insufficiency and/or arrhythmias. The search for biomarkers that might predict the clinical outcomes and guide treatment options is important. We thus investigated relationships between Fabry disease biomarkers (such as globotriaosylceramide (Gb3), globotriaosylsphingosine (lyso-Gb3)/related analogues) and age, gender, enzyme activity, clinical manifestations and severity of the disease in these patients...
January 18, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28097762/time-delays-in-the-diagnosis-and-treatment-of-fabry-disease
#4
Ricardo Reisin, Amandine Perrin, Pablo García-Pavía
BACKGROUND: The high variability in clinical manifestations of Fabry disease can lead to delays between symptom onset and correct diagnosis, and between correct diagnosis and initiation of enzyme replacement therapy. We investigated whether these delays have improved in recent years. METHODS: Data were analysed from the Fabry Outcome Survey (FOS; Shire; extracted August 2013) for "index patients", defined as the first patient diagnosed with Fabry disease from a family with several or no additional members registered in FOS...
January 2017: International Journal of Clinical Practice
https://www.readbyqxmd.com/read/27989332/neuropathic-and-myopathic-pain
#5
REVIEW
Anthony C Rodrigues, Peter B Kang
The evaluation and management of childhood pain syndromes of neuromuscular origin have distinct challenges, as the patterns of disease presentation and the ability of a child to describe symptoms may differ from that of an adult. Advances in scientific and clinical knowledge are leading to significant progress in the care of affected children. The genetic origins of Fabry disease and the inherited form of erythromelalgia are better understood. The increasing interest in neuroimmunology among pediatric neurologists has led to more sophisticated diagnostic and therapeutic approaches...
August 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/27852300/paediatric-fabry-disease-prognostic-significance-of-ocular-changes-for-disease-severity
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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.
March 1, 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
#12
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
#13
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
#14
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
#15
REVIEW
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
#16
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
#17
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
#18
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
#19
REVIEW
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
#20
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
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