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Fabry in children

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https://www.readbyqxmd.com/read/28871487/fabry-disease-in-children-a-federal-screening-programme-in-russia
#1
Leyla Seymurovna Namazova-Baranova, Alexander Alexandrovich Baranov, Aleksander Alekseevich Pushkov, Kirill Victorovich Savostyanov
Our objective was to examine the prevalence of Fabry disease in Russian children with chronic pain in the distal limbs. This non-interventional, multi-centre study included children 2-18 years of age with chronic recurrent unilateral or bilateral pain, burning, or acroparesthesia in the hands or feet. The presence of Fabry disease was defined by abnormal alpha-galactosidase A activity in males or alpha-galactosidase gene (GLA) mutation in females. Among 214 patients (110 males), 84.1% had bilateral limb pain and 31...
September 4, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28797308/coeliac-disease-in-infants-antibodies-to-deamidated-gliadin-peptide-come-first
#2
Michele Arigliani, Francesca Rech Morassutti, Martina Fabris, Paola Melli, Elio Tonutti, Paola Cogo
BACKGROUND: The onset of coeliac disease (CD) in the first year of life is uncommon and the diagnosis can be challenging due to the suboptimal sensitivity of tissue transglutaminase antibodies (tTG) at this age and the many other possible causes of malabsorption in infants. Antibodies to deamidated gliadin peptides (anti-DGPs), especially IgG, may appear earlier than IgA anti-tTG in very young children with CD. CASE PRESENTATION: We report here on an 8-month-old child who was evaluated for failure to thrive, constipation and developmental delay...
August 10, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28711074/hereditary-renal-diseases
#3
Lakshmi Mehta, Belinda Jim
Hereditary kidney disease comprises approximately 10% of adults and nearly all children who require renal replacement therapy. Technologic advances have improved our ability to perform genetic diagnosis and enhanced our understanding of renal and syndromic diseases. In this article, we review the genetics of renal diseases, including common monogenic diseases such as polycystic kidney disease, Alport syndrome, and Fabry disease, as well as complex disorders such as congenital anomalies of the kidney and urinary tract...
July 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/28623811/residential-exposure-to-pesticides-as-risk-factor-for-childhood-and-young-adult-brain-tumors-a-systematic-review-and-meta-analysis
#4
REVIEW
Geneviève Van Maele-Fabry, Laurence Gamet-Payrastre, Dominique Lison
BACKGROUND: Accumulating evidence suggests a positive association between exposure to non-agricultural pesticides and childhood brain tumors (CBT). OBJECTIVE: (1) To conduct a systematic review and meta-analysis of published studies on the association between residential/household/domestic exposure to pesticides and childhood brain tumors. (2) To clarify variables that could impact the results. METHODS: Publications in English were identified from a MEDLINE search through 28 February 2017 and from the reference list of identified publications...
June 14, 2017: Environment International
https://www.readbyqxmd.com/read/28567540/hearing-loss-in-children-with-fabry-disease
#5
E Suntjens, W A Dreschler, J Hess-Erga, R Skrunes, F A Wijburg, G E Linthorst, C Tøndel, M Biegstraaten
BACKGROUND: Hearing loss (HL) is a well-known feature of Fabry disease (FD). Its presence and characteristics have mainly been studied in adult patients, while only limited data are available on the presence and degree of HL in children with FD. This prompted us to study hearing sensitivity in pediatric FD patients. METHODS: All available audiograms of the Dutch and Norwegian children with FD were retrospectively collected. First, hearing sensitivity was determined by studying hearing thresholds at low, high, and ultra-high frequencies in children with FD and comparing them to zero dB HL, i...
May 31, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28550929/arrhythmia-and-clinical-cardiac-findings-in-children-with-anderson-fabry-disease
#6
Hunter C Wilson, Robert J Hopkin, Peace C Madueme, Richard J Czosek, Laurie A Bailey, Michael D Taylor, John L Jefferies
Anderson-Fabry Disease (AFD) is a lysosomal storage disorder that results in progressive cardiovascular hypertrophy, scarring, and arrhythmia burden; yet, the early cardiac phenotype of AFD is still poorly defined. To further characterize early cardiac features in AFD, we evaluated electrocardiographic and clinical findings contained in a local cohort of pediatric AFD patients and arrhythmia data in children enrolled in the Fabry Registry. Twenty-six local patients aged <18 years were identified (average age 9...
July 15, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28408463/bone-marrow-histology-for-the-diagnosis-of-essential-thrombocythemia-in-children-a-multi-center-italian-study
#7
Maria Caterina Putti, Marco Pizzi, Irene Bertozzi, Elena Sabattini, Concetta Micalizzi, Piero Farruggia, Ugo Ramenghi, Simone Cesaro, Giovanna Russo, Edoardo Peroni, Massimo Rugge, Fabrizio Fabris, Maria Luigia Randi
No abstract text is available yet for this article.
April 13, 2017: Blood
https://www.readbyqxmd.com/read/28377888/chronic-intestinal-pseudo-obstruction-did-you-search-for-lysosomal-storage-diseases
#8
J Politei, C Durand, A B Schenone, A Torres, J Mukdsi, B L Thurberg
Chronic intestinal pseudo-obstruction results in clinical manifestations that resemble intestinal obstruction but in the absence of any physical obstructive process. Fabry disease is an X-linked lysosomal storage disease characterized by the dysfunction of multiple systems, including significant gastrointestinal involvement. We report the occurrence of chronic intestinal pseudo-obstruction in two unrelated patients with Fabry disease and the possible explanation of a direct relation of these two disorders. In Fabry disease, gastrointestinal symptoms occur in approximately 70% of male patients, but the frequency ranges from 19% to 69% in different series...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28324326/the-impact-of-fabry-disease-on-reproductive-fitness
#9
Dawn A Laney, Virginia Clarke, Allison Foley, Eric W Hall, Scott E Gillespie, Myrl Holida, Morgan Simmons, Alexandrea Wadley
Fabry disease (FD) is a pan-ethnic, X-linked, progressive lysosomal storage disorder caused by pathogenic mutations in the GLA gene. Published case reports and abstracts suggest that decreased reproductive fitness may occur in males with FD. In order to understand the impact of FD on reproductive fitness and increase the accuracy of reproductive genetic counseling, this study examines a large, multi-centered population of individuals with FD to determine if males have reduced reproductive fitness. Study data were collected on 376 patients through two, gender-specific surveys distributed across the United States and Canada...
March 22, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28301824/using-a-dual-task-protocol-to-investigate-motor-and-cognitive-performance-in-healthy-children-and-youth
#10
Tracy L Fabri, Katherine E Wilson, Nicole Holland, Andrea Hickling, James Murphy, Philippe Fait, Nick Reed
OBJECTIVES: Mild traumatic brain injury (or concussion) is a prevalent yet understudied health concern in children and youth. This injury can cause dysfunction in both motor and cognitive domains; however, most literature focuses on single-task neuropsychological tests which only assess cognition. Although dual-task research on concussed children and youth is needed as many daily activities require both motor and cognitive domains, we must first investigate whether performing simultaneous motor and cognitive tasks of varied complexity impact these domains in healthy children and youth...
March 6, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28299312/genetic-screening-of-mutations-associated-with-fabry-disease-in-a-nationwide-cohort-of-juvenile-idiopathic-arthritis-patients
#11
Maria J Gonçalves, Ana F Mourão, António Martinho, Olívia Simões, José Melo-Gomes, Manuel Salgado, Paula Estanqueiro, Célia Ribeiro, Iva Brito, João E Fonseca, Helena Canhão
Fabry's disease (FD) is a lysosomal storage disorder associated with an alpha-galactosidase A deficiency. The prevalence of FD among juvenile idiopathic arthritis (JIA) patients with established diagnosis is unknown, but as musculoskeletal pain may be an important complaint at presentation, misdiagnosed cases are anticipated. With this study, we aim to calculate the frequency of FD-associated mutations in a cohort of JIA patients. Children with JIA from a national cohort were selected. Clinical and laboratorial information was recorded in the Portuguese rheumatic diseases register (http://Reuma...
2017: Frontiers in Medicine
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
#12
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
#13
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
#14
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...
March 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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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