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infantile exercise

Dekel Avital, Eli Hershkovitz, Neta Loewenthal
BACKGROUND: Carbonic anhydrase 12 (CA12) deficiency, a newly recognized rare disorder, has been described among Israeli Bedouin kindred as an autosomal recessive form of isolated salt wasting in sweat, which leads to severe infantile hyponatremic dehydration, visible salt precipitation after sweating, poor feeding and slow weight gain in infancy. CASE PRESENTATION: We present two adolescents diagnosed with CA12 deficiency who developed severe rhabdomyolysis as a result of physical activity in a hot climate...
May 11, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Robert Hegarty, Maesha Deheragoda, Emer Fitzpatrick, Anil Dhawan
The recognition of a pattern of steatotic liver injury where histology mimicked alcoholic liver disease, but alcohol consumption was denied, led to the identification of non-alcoholic fatty liver disease (NAFLD). Non-alcoholic fatty liver disease has since become the most common chronic liver disease in adults owing to the global epidemic of obesity. However, in paediatrics, the term NAFLD seems incongruous: alcohol consumption is largely not a factor and inherited metabolic disorders can mimic or co-exist with a diagnosis of NAFLD...
February 20, 2018: Journal of Hepatology
Ronen Bar-Yoseph, Hanna Mandel, Gur Mainzer, Michal Gur, Galit Tal, George Shalloufeh, Lea Bentur
INTRODUCTION: Enzyme replacement therapy (ERT) with Myozyme improved the prospect of Pompe disease patients. Our aim was to evaluate ERT acute effect on exercise capacity in pediatric Pompe patients. METHODS: Five Pompe patients (10-19 years, 4 infantile-onset and 1 diagnosed at 5 years) were evaluated before and 2 days after ERT using cardiopulmonary exercise testing (CPET), 6 min walking test (6MWT) and motor function test (GMFM-88). RESULTS: Preserved normal peak oxygen uptake, 6MWT and motor function were observed in the relative mild disease and impairment of these parameters in the more advanced disease...
March 2018: Pediatric Pulmonology
Motohiro Ebisawa, Komei Ito, Takao Fujisawa
Five years have passed since the Japanese Pediatric Guideline for Food Allergy (JPGFA) was first revised in 2011 from its original version. As many scientific papers related to food allergy have been published during the last 5 years, the second major revision of the JPGFA was carried out in 2016. In this guideline, food allergies are generally classified into four clinical types: (1) neonatal and infantile gastrointestinal allergy, (2) infantile atopic dermatitis associated with food allergy, (3) immediate-type of food allergy (urticaria, anaphylaxis, etc...
April 2017: Allergology International: Official Journal of the Japanese Society of Allergology
Shaun A Hussain, Jackie Tsao, Menglu Li, Madeline D Schwarz, Raymond Zhou, Joyce Y Wu, Noriko Salamon, Raman Sankar
OBJECTIVE: Although the link between vigabatrin (VGB) and retinotoxicity is well known, little attention has been focused on the risk of VGB-associated brain abnormalities on magnetic resonance imaging (MRI) (VABAM), namely reversible-and largely asymptomatic-signal changes in the thalami, basal ganglia, brainstem tegmentum, and cerebellar nuclei. Using a large infantile spasms cohort, we set out to identify predictors of these phenomena. METHODS: Children with infantile spasms were retrospectively identified...
April 2017: Epilepsia
Yuki Yamamoto, Naoko Matsui, Yu Hiramatsu, Yoshimichi Miyazaki, Hiroyuki Nodera, Yuishin Izumi, Hiroshi Takashima, Ryuji Kaji
A 45-year-old man presented to us due to slowly progressive muscle weakness and sensory disturbances in his lower limbs since his 40's. He reported multiple episodes of exercise-induced severe muscle fatigue and brown urine in his childhood, which disappeared by age 20. A nerve conduction study showed peripheral axonal neuropathy and then Charcot-Marie-Tooth disease (CMT) was considered as the most likely diagnosis; however, exome sequencing failed to identify a mutation in the known genes of CMTs. Since age 55, he recurrently developed severe rhabdomyolysis that required hospitalization...
February 25, 2017: Rinshō Shinkeigaku, Clinical Neurology
Maryline Moulin, Ana Ferreiro
Because of their contractile activity and their high oxygen consumption and metabolic rate, skeletal muscles continually produce moderate levels of reactive oxygen and nitrogen species (ROS/RNS), which increase during exercise and are buffered by multiple antioxidant systems to maintain redox homeostasis. Imbalance between ROS/RNS production and elimination results in oxidative stress (OxS), which has been implicated in ageing and in numerous human diseases, including cancer, diabetes or age-related muscle loss (sarcopenia)...
April 2017: Seminars in Cell & Developmental Biology
Barbara K Smith, A Daniel Martin, Lee Ann Lawson, Valerie Vernot, Jordan Marcus, Saleem Islam, Nadeem Shafi, Manuela Corti, Shelley W Collins, Barry J Byrne
Pompe disease is an inherited disorder due to a mutation in the gene that encodes acid α-glucosidase (GAA). Children with infantile-onset Pompe disease develop progressive hypotonic weakness and cardiopulmonary insufficiency that may eventually require mechanical ventilation (MV). Our team conducted a first in human trial of diaphragmatic gene therapy (AAV1-CMV-GAA) to treat respiratory neural dysfunction in infantile-onset Pompe. Subjects (aged 2-15years, full-time MV: n=5, partial/no MV: n=4) underwent a period of preoperative inspiratory muscle conditioning exercise...
January 2017: Experimental Neurology
Luís Pereira-da-Silva, Carla Rêgo, Angelo Pietrobelli
This systematic review discusses data on the dietary intake of preschool children living in the Mediterranean countries of the European Union, including the comparison with a Mediterranean-like diet and the association with nutritional status. Specifically, data from the multinational European Identification and Prevention on Dietary and life style induced health effects in children and infants (IDEFICS) study and national studies, such as the Estudo do Padrão Alimentar e de Crescimento Infantil (EPACI) study and Geração XXI cohort in Portugal, ALimentando la SAlud del MAñana (ALSALMA) study in Spain, Étude des Déterminants pré-et postnatals précoces du développement et de la santé de l'ENfant (EDEN) cohort in France, Nutrintake 636 study in Italy, and Growth, Exercise and Nutrition Epidemiological Study in preSchoolers (GENESIS) cohort in Greece, were analyzed...
June 8, 2016: International Journal of Environmental Research and Public Health
Hideo Orimo
Hypophosphatasia (HPP) is an inherited systemic bone disease that is characterized by bone hypomineralization. HPP is classified into six forms according to the age of onset and severity as perinatal (lethal), perinatal benign, infantile, childhood, adult, and odontohypophosphatasia. The causative gene of the disease is the ALPL gene that encodes tissue-nonspecific alkaline phosphatase (TNAP). TNAP is expressed ubiquitously, and its physiological role is apparent in bone mineralization. A defect in bone mineralization can manifest in several ways, including rickets or osteomalacia in HPP patients...
2016: Therapeutics and Clinical Risk Management
Marie-Victoire Sénat, Loïc Sentilhes, Anne Battut, Dan Benhamou, Sarah Bydlowski, Anne Chantry, Xavier Deffieux, Flore Diers, Muriel Doret, Chantal Ducroux-Schouwey, Florent Fuchs, Geraldine Gascoin, Chantal Lebot, Louis Marcellin, Genevieve Plu-Bureau, Brigitte Raccah-Tebeka, Emmanuel Simon, Gérard Bréart, Loïc Marpeau
OBJECTIVE: To make evidence-based recommendations for the postpartum management of women and their newborns, regardless of the mode of delivery. MATERIAL AND METHODS: Systematic review of articles from the PubMed database and the Cochrane Library and of recommendations from the French and foreign societies or colleges of obstetricians. RESULTS: Because breast-feeding is associated with reductions in neonatal, infantile, and childhood morbidity (lower frequency of cardiovascular, infectious, and atopic diseases and infantile obesity) (LE2) and improved cognitive development in children (LE2), exclusive and extended breastfeeding is recommended (grade B) for at least 4-6 months (professional consensus)...
July 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Elbadawi Ibrahim Mohammad Elhinidi, Marwa Mostafa Ibrahim Ismaeel, Tamer Mohamed El-Saeed
[Purpose] The aim of this study was to evaluate the influence of using a selected dual-task training program to improve postural stability in infantile hemiparesis. [Subjects and Methods] Thirty patients participated in this study; patients were classified randomly into two equal groups: study and control groups. Both groups received conventional physical therapy treatment including mobility exercises, balance exercises, gait training exercises, and exercises to improve physical conditioning. In addition, the study group received a selected dual-task training program including balance and cognitive activities...
March 2016: Journal of Physical Therapy Science
Simone Olgiati, Matej Skorvanek, Marialuisa Quadri, Michelle Minneboo, Josja Graafland, Guido J Breedveld, Ramon Bonte, Zeliha Ozgur, Mirjam C G N van den Hout, Kees Schoonderwoerd, Frans W Verheijen, Wilfred F J van IJcken, Hsin Fen Chien, Egberto Reis Barbosa, Hsiu-Chen Chang, Szu-Chia Lai, Tu-Hsueh Yeh, Chin-Song Lu, Yah-Huei Wu-Chou, Anneke J A Kievit, Vladimir Han, Zuzana Gdovinova, Robert Jech, Robert M W Hofstra, George J G Ruijter, Wim Mandemakers, Vincenzo Bonifati
BACKGROUND: ECHS1 encodes a mitochondrial enzyme involved in the degradation of essential amino acids and fatty acids. Recently, ECHS1 mutations were shown to cause a new severe metabolic disorder presenting as Leigh or Leigh-like syndromes. The objective of this study was to describe a family with 2 siblings affected by different dystonic disorders as a resulting phenotype of ECHS1 mutations. METHODS: Clinical evaluation, MRI imaging, genome-wide linkage, exome sequencing, urine metabolite profiling, and protein expression studies were performed...
July 2016: Movement Disorders: Official Journal of the Movement Disorder Society
N B Shchekolova, O A Mudrova, V G Koziukov, N M Belokrylov, Ia V Nenakhova, A L Taskaev
OBJECTIVES: The present study was aimed at the improvement of comprehensive neuro-orthopedic rehabilitation of the children of different age presenting with cerebral palsy. MATERIAL AND METHODS: A total of 267 patients with infantile cerebral paralysis at the age from 1 year to 16 years were available for the observation including 158 (59.2%) boys and 109 (40.8%) girls. RESULTS: The orthopedic treatment of locomotor disorders was adjusted for the patients' age, the neuropsychiatric status, and the type of autonomous dysfunction...
January 2016: Voprosy Kurortologii, Fizioterapii, i Lechebnoĭ Fizicheskoĭ Kultury
M-V Sénat, L Sentilhes, A Battut, D Benhamou, S Bydlowski, A Chantry, X Deffieux, F Diers, M Doret, C Ducroux-Schouwey, F Fuchs, G Gascoin, C Lebot, L Marcellin, G Plu-Bureau, B Raccah-Tebeka, E Simon, G Bréart, L Marpeau
OBJECTIVE: To determine the post-partum management of women and their newborn whatever the mode of delivery. MATERIAL AND METHODS: The PubMed database, the Cochrane Library and the recommendations from the French and foreign obstetrical societies or colleges have been consulted. RESULTS: Because breastfeeding is associated with a decrease in neonatal morbidity (lower frequency of cardiovascular diseases, infectious, atopic or infantile obesity) (EL2) and an improvement in the cognitive development of children (EL2), exclusive and extended breastfeeding is recommended (grade B) between 4 to 6 months (Professional consensus)...
December 2015: Journal de Gynécologie, Obstétrique et Biologie de la Reproduction
Anaïs Thouin, Douglas E Crompton
For some time, paediatric neurologists have recognised glucose transporter type 1 (GluT1) deficiency syndrome as a cause of intractable infantile seizures, microcephaly, developmental delay and hypoglycorrhachia in the presence of a normal plasma glucose. It is caused by mutations in the SLC2A1 gene, coding for GluT1, leading to a reduction in the available glucose transporter sites; it responds to the ketogenic diet. Recently, a wider spectrum of seizure syndromes have been associated with functional impairment of glucose transport caused by SLC2A1 mutations...
February 2016: Practical Neurology
Claudia Castiglioni, Daniela Verrigni, Cecilia Okuma, Alejandra Diaz, Karin Alvarez, Teresa Rizza, Rosalba Carrozzo, Enrico Bertini, Marcelo Miranda
BACKGROUND: Pyruvate dehydrogenase (PDH) deficiency is a disorder of energy metabolism with variable clinical presentations, ranging from severe infantile lactic acidosis to milder chronic neurological disorders. The spectrum of clinical manifestations is continuously expanding. METHODS AND RESULTS: We report on a 19-year-old intelligent female with PDH deficiency caused by a Leu216Ser mutation in PDHA1. She presented with recurrent hemidystonic attacks, triggered by prolonged walking or running, as the unique clinical manifestation that manifested since childhood...
September 2015: European Journal of Paediatric Neurology: EJPN
Simon Edward Olpin, Elaine Murphy, Richard James Kirk, Robert William Taylor, Rosaline Quinlivan
Metabolic myopathies (MM) are rare inherited primary muscle disorders that are mainly due to abnormalities of muscle energy metabolism resulting in skeletal muscle dysfunction. These diseases include disorders of fatty acid oxidation, glyco(geno)lytic muscle disorders and mitochondrial respiratory chain (MRC) disease. Clinically these disorders present with a range of symptoms including infantile hypotonia, myalgia/exercise tolerance, chronic or acute muscle weakness, cramps/spasms/stiffness or episodic acute rhabdomyolysis...
June 2015: Journal of Clinical Pathology
R Galindo Zavala, E Núñez Cuadros, G Díaz Cordovés-Rego, A L Urda Cardona
Osteoporosis is being increasingly recognised in paediatric practice as a consequence of the increasing life expectancy of children who suffer from chronic diseases and other factors. There are many non-pharmacological measures that can improve children' bone health, for example, avoiding inflammatory activity and osteotoxic treatments; increasing sun exposure and weight-bearing exercise, and maintaining an adequate nutritional status. Vitamin D and calcium supplements have been proposed as a measure to increase bone mass, but their effect and therapeutic indications are not completely clear...
December 2014: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
Harrison N Jones, Kelly D Crisp, Tronda Moss, Katherine Strollo, Randy Robey, Jeffrey Sank, Michelle Canfield, Laura E Case, Leslie Mahler, Richard M Kravitz, Priya S Kishnani
PURPOSE: Respiratory muscle weakness is a primary therapeutic challenge for patients with infantile Pompe disease. We previously described the clinical implementation of a respiratory muscle training (RMT) regimen in two adults with late-onset Pompe disease; both demonstrated marked increases in inspiratory and expiratory muscle strength in response to RMT. However, the use of RMT in pediatric survivors of infantile Pompe disease has not been previously reported. METHOD: We report the effects of an intensive RMT program on maximum inspiratory pressure (MIP) and maximum expiratory pressure (MEP) using A-B-A (baseline-treatment-posttest) single subject experimental design in two pediatric survivors of infantile Pompe disease...
2014: Journal of Pediatric Rehabilitation Medicine
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