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Infantil lung function

Michael D Fox, Vincent J Carson, Han-Zhong Feng, Michael W Lawlor, John T Gray, Karlla W Brigatti, J-P Jin, Kevin A Strauss
We describe the natural history of 'Amish' nemaline myopathy (ANM), an infantile-onset, lethal disease linked to a pathogenic c.505G>T nonsense mutation of TNNT1, which encodes the slow fiber isoform of troponin T (TNNT1; a.k.a TnT). The TNNT1 c.505G>T allele has a carrier frequency of 6.5% within Old Order Amish settlements of North America. We collected natural history data for 106 ANM patients born between 1923 and 2017. Over the last two decades, mean age of molecular diagnosis was 16 ± 27 days. TNNT1 c...
June 20, 2018: Human Molecular Genetics
Dong Bai, Anbang Han, Shan Cong
Objectives: Aberrant expression of CCL5 has been found in several kinds of inflammatory diseases, and the roles of CCL5 in these diseases have also been reported. However, the role of CCL5 in infantile pneumonia is still unclear. Thus, the function and acting mechanism of CCL5 in the in vitro model of infantile pneumonia were researched in this study. Materials and Methods: Human fetal lung fibroblast WI-38 cells were subjected with lipopolysaccharide (LPS) to mimic an in vitro model of pneumonia...
May 2018: Iranian Journal of Basic Medical Sciences
Jinjing Guo, Ying Cheng
OBJECTIVE: This study aimed to explore the potential roles and mechanism of miR-1247 in lipopolysaccharides (LPS)-induced acute pneumonia. MATERIALS AND METHODS: The miR-1247 expression in acute stage patients with infantile pneumonia was detected. To establish the cell model of acute pneumonia, A549 cells were treated with 1 mg/mL lipopolysaccharides (LPS). The effects of miR-1247 dysregulation on the cell viability, apoptosis, inflammation and autophagy of LPS-induced A549 cells were investigated...
May 13, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
Jan C van der Meijden, Michelle E Kruijshaar, Laurike Harlaar, Dimitris Rizopoulos, Nadine A M E van der Beek, Ans T van der Ploeg
OBJECTIVES: Pompe disease is a progressive metabolic myopathy for which enzyme replacement therapy (ERT) was approved in 2006. While various publications have examined the effects of ERT in classic-infantile patients and in adults, little has been published on ERT in children with non-classic presentations. STUDY DESIGN: This prospective study was conducted from June 1999 to May 2015. Seventeen patients from various countries participated. Outcome measures comprised muscle function (6-minute walk test, quick motor-function test (QMFT)), muscle strength (hand-held dynamometry; manual muscle testing), and lung function (FVC sitting and supine)...
March 19, 2018: Journal of Inherited Metabolic Disease
Fei Xie, Lei Yang, Lili Han, Bin Yue
The present study explored the functional role of microRNA (miR)-194 in lipopolysaccharide (LPS) induced lung cell injury, along with the underlying mechanisms and to reveal the potential role in infantile pneumonia. Human fibroblasts WI38 cells were transfected with miR-194 mimic or miR-194 inhibitor, and the transfection efficiency was confirmed by quantitative real-time polymerase chain reaction (qRT-PCR). Thereafter, the cells were treated with or without LPS, and then cell viability, cell apoptosis and mRNA and protein expressions of key proteins of nuclear factor kappa B (NF-κB) pathway including inhibitor of NF-κB (IκB) α, p-65, and B-cell CLL/lymphoma (Bcl) 3 were analyzed...
2017: Cellular Physiology and Biochemistry
Sui-Ling Liao, Ming-Han Tsai, Tsung-Chieh Yao, Man-Chin Hua, Kuo-Wei Yeh, Chih-Yung Chiu, Kuan-Wen Su, Shih-Yin Huang, Chuan-Chi Kao, Shen-Hao Lai, Jing-Long Huang
The relationship between cesarean section (CS) and allergic disorders such as asthma and wheezing has been inconsistent, and the mechanisms for their connection remained largely unknown. We aimed to investigate whether CS is associated with infantile wheeze and to explore the connection between CS and several risk factors known to correlate with allergy development. Mononuclear cells were isolated from cord blood and assessed for cytokine responses by ELISA. Bacteria from nasopharyngeal specimens were identified with traditional culture methods...
August 22, 2017: Scientific Reports
Thomas Semple, Mohammed R Akhtar, Catherine M Owens
Bronchopulmonary dysplasia is the most common form of infantile chronic lung disease and results in significant health-care expenditure. The roles of chest radiography and computed tomography (CT) are well documented but numerous recent advances in imaging technology have paved the way for newer imaging techniques including structural pulmonary assessment via lung magnetic resonance imaging (MRI), functional assessment via ventilation, and perfusion MRI and quantitative imaging techniques using both CT and MRI...
2017: Frontiers in Medicine
Da Hong, Yuanyuan Qi, Jing Liu, Huijun Wang, Libo Wang, Liling Qian
BACKGROUND: Mutations in the surfactant protein C gene (SFTPC) result in interstitial lung disease (ILD). Our objective was to report a novel SFTPC mutation and evaluate the effect of this mutant on protein synthesis and processing. METHODS: Genomic DNA was extracted from whole blood of a Chinese infant with ILD and candidate genes associated with ILD were sequenced by next-generation sequencing. Subclones of wild-type and mutant SFTPC were transiently transfected into A549 cells...
June 2017: Pediatric Research
Birgit Mentrup, Hermann Girschick, Franz Jakob, Christine Hofmann
Hypophosphatasia (HPP) is a multi-systemic inborn disease with an extraordinary spectrum of severity, ranging from the absence of mineralization to high lethality and it involves different organs including bone, muscle, kidney, lung, gastrointestinal tract and the nervous system. The disease is characterized by low levels of serum alkaline phosphatase, caused by loss-of-function mutations within the ALPL gene that encodes the tissue-nonspecific alkaline phosphatase TNAP. Here we present the functional characterization of a gene mutation, detected in intron 7 of the ALPL gene of a boy with infantile HPP in whom routine sequencing of the coding region failed to detect any mutation...
January 2017: Bone
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...
May 15, 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
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