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Infantil lung function

Melissa Lee, Briana Vecchio-Pagán, Neeraj Sharma, Abdul Waheed, Xiaopeng Li, Karen S Raraigh, Sarah Robbins, Sangwoo T Han, Arianna L Franca, Matthew J Pellicore, Taylor A Evans, Kristin M Arcara, Hien Nguyen, Shan Luan, Deborah Belchis, Jozef Hertecant, Joseph Zabner, William S Sly, Garry R Cutting
Elevated sweat chloride levels, failure to thrive (FTT), and lung disease are characteristic features of cystic fibrosis (CF, OMIM #219700). Here we describe variants in CA12 encoding carbonic anhydrase XII in two pedigrees exhibiting CF-like phenotypes. Exome sequencing of a white American adult diagnosed with CF due to elevated sweat chloride, recurrent hyponatremia, infantile FTT and lung disease identified deleterious variants in each CA12 gene: c.908-1 G>A in a splice acceptor and a novel frameshift insertion c...
February 23, 2016: Human Molecular Genetics
Federico Canavese, Antoine Samba, Alain Dimeglio, Mounira Mansour, Marie Rousset
Various early-onset spinal deformities, particularly infantile and juvenile scoliosis (JS), still pose challenges to pediatric orthopedic surgeons. The ideal treatment of these deformities has yet to emerge, as both clinicians and surgeons still face multiple challenges including preservation of thoracic motion, spine and cage, and protection of cardiac and lung growth and function. Elongation-derotation-flexion (EDF) casting is a technique that uses a custom-made thoracolumbar cast based on a three-dimensional correction concept...
December 18, 2015: World Journal of Orthopedics
Monica P Islam, E Steve Roach
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can affect the brain, skin, eyes, kidneys, heart, and lungs. TSC alters cellular proliferation and differentiation, resulting in hamartomas of various organs, tumor formation, and altered neuronal migration. The phenotype is highly variable. Most individuals have seizures, commonly including infantile spasms, and there is variable intellectual disability and autism. Neonates can present with cardiac failure due to intracardiac rhabdomyomas. The likelihood of renal angiomyolipomas increases with age, and renal disease is the most common cause of death in adults with TSC...
2015: Handbook of Clinical Neurology
Federico Canavese, Marie Rousset, Mounira Mansour, Antoine Samba, Alain Dimeglio
Infantile and juvenile scoliosis, among different types of spinal deformity, is still a challenge for pediatric orthopedic surgeons. The ideal treatment of infantile and juvenile scoliosis has not yet been identified as both clinicians and surgeons still face multiple challenges, including preservation of the thoracic spine, thoracic cage, lung growth and cardiac function without reducing spinal motion. Elongation, derotation, flexion (EDF) casting technique is a custom-made thoracolumbar cast based on a three dimensional correction concept...
February 2016: Minerva Pediatrica
Xavier Carbonell-Estrany, Eduardo G Pérez-Yarza, Laura Sanchez García, Juana M Guzmán Cabañas, Elena Villarrubia Bòria, Belén Bernardo Atienza
The health status of premature infants born 321-350 weeks' gestational age (wGA) hospitalized for RSV infection in the first year of life (cases; n = 125) was compared to that of premature infants not hospitalized for RSV (controls; n = 362) through 6 years. The primary endpoints were the percentage of children with wheezing between 2-6 years and lung function at 6 years of age. Secondary endpoints included quality of life, healthcare resource use, and allergic sensitization. A significantly higher proportion of cases than controls experienced recurrent wheezing through 6 years of age (46...
2015: PloS One
Renée Lampe, Tobias Blumenstein, Varvara Turova, Ana Alves-Pinto
BACKGROUND: Individuals with infantile cerebral palsy have multiple disabilities. The most conspicuous syndrome being investigated from many aspects is motor movement disorder with a spastic gait pattern. The lung function of adults with spasticity attracts less attention in the literature. This is surprising because decreased thoracic mobility and longstanding scoliosis should have an impact on lung function. With increasing age and the level of disability, individuals become susceptible to lung infections and reflux illness, and these are accompanied by increased aspiration risk...
2014: Patient Preference and Adherence
Y-X Zou, J Zhang, C Ma, J Li, J Zai, Y-S Guo
OBJECTIVES: The efficacy and safety of a single-dose of Montelukast sodium for treating virus-related infantile wheezing are investigated in this study. PATIENTS AND METHODS: A prospective, open, randomized, controlled study was carried out on 595 cases of infants who exhibited wheezing after a respiratory syncytial virus infection. Treatment with Montelukast sodium was provided over the course of 12 weeks. The clinical efficacy of Montelukast sodium was determined based on the clinical symptom score, tidal breathing lung function, and short-acting bronchodilator usage, as well as infantile asthma diagnosis rate change at the 4th and 12th week after the administration of the treatment...
2014: European Review for Medical and Pharmacological Sciences
Laura Deroma, Mattia Guerra, Annalisa Sechi, Giovanni Ciana, Giorgia Cisilino, Andrea Dardis, Bruno Bembi
UNLABELLED: Glycogenosis type II, a genetic muscle-wasting disorder, results in a spectrum of clinical phenotypes. Enzyme replacement therapy is effective in the infantile form of the disease, while little is known about its effectiveness in late-onset disease, especially in juvenile patients. The purpose of this retrospective cohort study was to assess the long-term effects of enzyme replacement therapy (ERT) in juvenile glycogenosis type II (GSDII). Eight Italian juvenile GSDII patients, receiving biweekly infusions of 20 mg/kg recombinant human α-glucosidase for at least 72 months, were enrolled (median age at therapy start was 11...
June 2014: European Journal of Pediatrics
Lydia R Durant, Spyridon Makris, Cornelia Maaike Voorburg, Jens Loebbermann, Cecilia Johansson, Peter J M Openshaw
During viral infection, inflammation and recovery are tightly controlled by competing proinflammatory and regulatory immune pathways. Respiratory syncytial virus (RSV) is the leading global cause of infantile bronchiolitis, which is associated with recurrent wheeze and asthma diagnosis in later life. Th2-driven disease has been well described under some conditions for RSV-infected mice. In the present studies, we used the Foxp3(DTR) mice (which allow specific conditional depletion of Foxp3(+) T cells) to investigate the functional effects of regulatory T cells (Tregs) during A2-strain RSV infection...
October 2013: Journal of Virology
Aude Chemin, Damien Bonnet, Muriel Le Bourgeois, Marilyne Levy, Christophe Delacourt
OBJECTIVE: To evaluate respiratory morbidities and lung function tests in the cohort of patients with scimitar syndrome evaluated at our center since 1976. STUDY DESIGN: Eighty-one children were investigated. Twenty-six patients died, all with the infantile form. The median duration of follow-up of surviving children was 7.2 years. RESULTS: A high rate of respiratory morbidities was measured, with 38% and 43% of children reporting pulmonary infections or wheezing episodes during the last 12 months of follow-up, respectively...
February 2013: Journal of Pediatrics
Lily Changchien Uihlein, Marilyn G Liang, John B Mulliken
1.Review the key features of the life cycle of infantile hemangiomas.2.Highlight cellular and molecular pathways involved in hemangioma-genesis.3.Discuss theories that may account for hemangioma-genesis.In the past, it was believed that a mother's visual impressions or behavior during pregnancy caused the growth of infantile hemangioma in her unborn child. She might have had an excessive craving for strawberries, witnessed the slaughter of an animal, directly contacted human or animal blood, or mocked a child with a similar birthmark...
August 2012: Pediatric Annals
F Iaselli, G Rea, S Cappabianca, G Fabozzi, M Montemarano, C Vitale, A A Stanziola, R Muto, A Rotondo
Niemann-Pick disease type B is caused by a deficiency in acid sphingomyelinase activity; among the six variants of Niemann-Pick disease known to date, it is the most frequently associated with lung involvement, a major cause of morbidity and mortality in this subtype in patients of all ages. Nevertheless, the vast majority of reports in the literature concern infantile forms, while less reported is, for several reasons, the onset in adults being consequently still poorly understood and characterized its clinical, radiographic and functional manifestations...
December 2011: Monaldi Archives for Chest Disease, Archivio Monaldi Per le Malattie del Torace
Mashenka Dimitrova, Denislava Deleva, Velichka Pavlova, Ivaylo Ivanov
Tripeptidyl peptidase I (TPPI) - a lysosomal serine protease - is encoded by the CLN2 gene, mutations that cause late-infantile neuronal ceroid lipofuscinosis (LINCL) connected with profound neuronal loss, severe clinical symptoms and early death at puberty. Developmental studies of TPPI activity levels and distribution have been done in the human and rat central nervous systems (CNS) and visceral organs. Similar studies have not been performed in mouse. In this paper, we follow up on the developmental changes in the enzyme activity and localization pattern in the CNS and visceral organs of mouse over the main periods of life - embryonic, neonate, suckling, infantile, juvenile, adult and aged - using biochemical assays and enzyme histochemistry...
November 2011: Cell and Tissue Research
Barry J Byrne, Priya S Kishnani, Laura E Case, Luciano Merlini, Wolfgang Müller-Felber, Suyash Prasad, Ans van der Ploeg
Pompe disease is an autosomal recessive, progressive, debilitating, and often fatal neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase (GAA). It is characterized by the accumulation of glycogen in muscle tissue that leads to progressive muscle weakness and loss of function. It presents as a broad spectrum of clinical phenotypes, with varying rates of progression, symptom onset, degree of organ involvement, and severity. The Pompe Registry represents worldwide data collection on this rare and clinically heterogeneous disease...
May 2011: Molecular Genetics and Metabolism
Samir K Gadepalli, Ronald B Hirschl, Wan C Tsai, Michelle S Caird, Kelly L Vanderhave, Peter J Strouse, Robert A Drongowski, Frances A Farley
PURPOSE: Vertical expandable prosthetic titanium rib (VEPTR) insertion and expansion has been advocated to increase thoracic volume and pulmonary function in patients with thoracic insufficiency syndrome. We reviewed our experience with VEPTR implantation to determine if lung function and growth is augmented, to determine the children's functional status, and if the scoliosis is controlled. METHODS: From 2006 to 2010, 29 insertions and 57 expansions were performed in 26 patients at our institution...
January 2011: Journal of Pediatric Surgery
Lori A Karol
BACKGROUND: Early-onset scoliosis, when left untreated, leads to severe deformity. Until the last decade, treatment of progressive curves in young children often consisted of definitive spinal fusion. The recognition of thoracic insufficiency syndrome associated with definitive early fusion has led to the development of new surgical techniques developed to preserve spinal and thoracic growth in young patients with progressive scoliosis. QUESTIONS/PURPOSES: We asked: (1) Does early definitive fusion arrest progression of spinal deformity? To what extent does early definitive spinal fusion influence (2) pulmonary function and (3) thoracic growth? METHODS: A Medline search of the published literature on early-onset scoliosis, congenital scoliosis, and infantile scoliosis between 2008 and 2010 was performed on spinal fusion for early-onset scoliosis, focusing on studies reporting pulmonary function at followup...
May 2011: Clinical Orthopaedics and related Research
Ingo Marenholz, Tamara Kerscher, Anja Bauerfeind, Jorge Esparza-Gordillo, Renate Nickel, Thomas Keil, Susanne Lau, Klaus Rohde, Ulrich Wahn, Young-Ae Lee
BACKGROUND: Asthma prediction in early infancy is essential for the development of new preventive strategies. Loss-of-function mutations in the filaggrin gene (FLG) were identified as risk factors for eczema and associated asthma. OBJECTIVE: We evaluated the utility of the FLG mutations for the prediction of asthma. METHODS: Eight hundred seventy-one individuals of the prospective German Multicenter Allergy Study cohort were genotyped for 3 FLG mutations...
April 2009: Journal of Allergy and Clinical Immunology
Heidi Russell, M John Hicks, Alison A Bertuch, Murali Chintagumpala
BACKGROUND: Infantile fibrosarcoma (IF) is a rare soft tissue sarcoma that presents either at birth or in the first year of life. Complete surgical resection is usually curative but chemotherapy may shrink the tumor to facilitate complete resection. This report describes the histologic changes and outcomes in four patients with IF treated with chemotherapy and surgical resection. PROCEDURE: A retrospective review was performed of patients treated between 2000 and 2007...
July 2009: Pediatric Blood & Cancer
Monia Khemiri, Anis Ben Rhouma, Safia Bouzid, Tayeb Messaoud, Manef Guesmi, Mourad Hamzaoui, Slaheddine Fattoum, Faouzia Khaldi, Siham Barsaoui
AIM: The aim of this report is to determine clinical characteristics and outcome of Cystic Fibrosis (CF). METHODS: Cases of CF managed at Infantile Medicine A Department in Children's Hospital of Tunis during 13 years (1994-2006) were reviewed. RESULTS: 16 children had CF. They were 8 males and 8 females. 13 patients were consanguineous and four had similar familial cases. The mean age at diagnosis was 19 months (10 days, 13 years). 3/4 of patients were symptomatic within the first trimester of life...
June 2008: La Tunisie Médicale
Christophe Delacourt, Marie-Rose Benoist, Muriel Le Bourgeois, Serge Waernessyckle, Patrick Rufin, Jean-Jacques Brouard, Jacques de Blic, Pierre Scheinmann
Wheezing during infancy has been linked to early loss of pulmonary function. We prospectively investigated the relation between bronchial hyperresponsiveness (BHR) and progressive impairment of pulmonary function in a cohort of asthmatic infants followed until age 9 years. We studied 129 infants who had had at least three episodes of wheezing. Physical examinations, baseline lung function tests and methacholine challenge tests were scheduled at ages 16 months and 5, 7 and 9 years. Eighty-three children completed follow-up...
2007: PloS One
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