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neuroendocrine cell hyperplasia of infancy

Deborah R Liptzin, Stephen M M Hawkins, Brandie D Wagner, Robin R Deterding
OBJECTIVES: Neuroendocrine cell hyperplasia of infancy (NEHI) is a children's interstitial and diffuse lung disease of unknown etiology that presents in infancy with characteristic findings of tachypnea, retractions, crackles, and hypoxemia. At the present, the mainstay of treatment is oxygen supplementation to normalize oxygen saturations and decrease work of breathing. There are characteristic pulmonary function, radiographic, and histologic findings, but polysomnography (PSG) data has not been reported...
May 15, 2018: Pediatric Pulmonology
Jason P Weinman, Christina J White, Deborah R Liptzin, Robin R Deterding, Csaba Galambos, Lorna P Browne
BACKGROUND: Pulmonary interstitial glycogenosis is a form of childhood interstitial lung disease characterized by the histological finding of abundant glycogen-laden mesenchymal cells within the pulmonary interstitium. Patients present in the neonatal period with disproportionate respiratory distress. Often, pulmonary interstitial glycogenosis is accompanied by alveolar simplification complicating recognition and diagnosis. Despite the recognition of pulmonary interstitial glycogenosis as a distinct entity, only a few case reports describing imaging findings are found in the literature, with no published systematic review available...
April 23, 2018: Pediatric Radiology
Rebekah J Nevel, Errine T Garnett, Deneen A Schaudies, Lisa R Young
RATIONALE: Neuroendocrine cell hyperplasia of infancy (NEHI) typically presents in infancy with tachypnea, retractions, and hypoxemia. Some infants have failure to thrive, yet the frequency of this and other non-respiratory phenotypic features have not been delineated. While gradual improvement occurs, the clinical course is variable and the duration of supplemental oxygen requirement has not been defined. OBJECTIVES: Our objective was to identify factors in NEHI that may drive differences in clinical course...
May 2018: Pediatric Pulmonology
Mara Lelii, Maria Francesca Patria, Raffaella Pinzani, Rossana Tenconi, Alessandro Mori, Nicola Bonelli, Nicola Principi, Susanna Esposito
Background: Chronic interstitial lung diseases in children (chILD) are a heterogeneous group of disorders that can represent a clinical challenge for pediatric pneumologists. Among them, neuroendocrine cell hyperplasia of infancy (NEHI) is a diffuse lung disease prevalent in the first years of life that spontaneously improves over time. The clinical presentation of NEHI is indistinguishable from other interstitial lung diseases, so a correct and non-invasive diagnosis by chest computed tomography (CT) without lung biopsy might not be simple...
September 25, 2017: International Journal of Environmental Research and Public Health
Angela Myers, Christèle du Souich, Connie L Yang, Lior Borovik, Jill Mwenifumbo, Rosemarie Rupps, Causes Study, Anna Lehman, Cornelius F Boerkoel
The forkhead box (FOX) transcription factors have roles in development, carcinogenesis, metabolism, and immunity. In humans FOXP1 mutations have been associated with language and speech defects, intellectual disability, autism spectrum disorder, facial dysmorphisms, and congenital anomalies of the kidney and urinary tract. In mice, Foxp1 plays critical roles in development of the spinal motor neurons, lymphocytes, cardiomyocytes, foregut, and skeleton. We hypothesized therefore that mutations of FOXP1 affect additional tissues in some humans...
December 2017: American Journal of Medical Genetics. Part A
Ernest Cutz, Rose Chami, Sharon Dell, Jacob Langer, David Manson
Primary or isolated pulmonary interstitial glycogenosis (PIG) is a rare disease presenting as tachypnea and hypoxemia during the perinatal period. A diffuse interstitial infiltrate with focal hyperinflation is visible on chest imaging. The biopsy findings include diffuse expansion of the interstitium by spindle-shaped cells with pale cytoplasm that, on electron microscopy (EM), are poorly differentiated mesenchymal cells containing abundant monoparticulate glycogen. This glycogenosis appears to be a transient abnormality, usually with a favorable prognosis...
October 2017: Human Pathology
Silvia Caimmi, Amelia Licari, Davide Caimmi, Anna Rispoli, Eugenio Baraldi, Fiorella Calabrese, Gian Luigi Marseglia
BACKGROUND: Childhood interstitial lung disease (chILD) is a heterogeneous group of rare disorders characterized by abnormal imaging findings, impaired gas exchange; and is associated with substantial morbidity and mortality. Neuroendocrine cell hyperplasia (NEHI) is a unique sub-group, which is more prevalent in infants and children younger than 2 years of age, and typically manifests with chronic tachypnea, retractions, hypoxemia and failure to thrive. NEHI insidiously appears in the first year of life, subtly masquerading as one of the more common lung diseases of childhood...
September 15, 2016: Italian Journal of Pediatrics
Laurie L Carr, Jeffrey A Kern, Gail H Deutsch
Although incidental reactive pulmonary neuroendocrine cell hyperplasia (PNECH) is seen on biopsy specimens in adults with chronic lung disease, disorders characterized by marked PNECH are rare. Primary hyperplasia of neuroendocrine cells in the lung and obstructive lung disease related to remodeling or physiologic constriction of small airways define diffuse idiopathic neuroendocrine cell hyperplasia (DIPNECH) in the adult and neuroendocrine cell hyperplasia of infancy (NEHI) in children. DIPENCH and NEHI share a similar physiology, typical imaging appearance, and increased neuroendocrine cells on biopsy...
September 2016: Clinics in Chest Medicine
Rebekah J Nevel, Errine T Garnett, John A Worrell, Ronald L Morton, Lawrence M Nogee, Timothy S Blackwell, Lisa R Young
RATIONALE: Neuroendocrine cell hyperplasia of infancy (NEHI) is a diffuse lung disease that presents in infancy and improves during childhood. Long-term outcomes have not previously been described. In one familial cohort, we have reported that NEHI is associated with a heterozygous variant of NKX2.1/TTF1. OBJECTIVES: Our objective was to determine whether pulmonary abnormalities persist in adults with NEHI, to aid in elucidating the natural history of this disease...
August 2016: Annals of the American Thoracic Society
Paul R Houin, Robin R Deterding, Lisa R Young
Neuroendocrine cell Hyperplasia of Infancy (NEHI) presents with tachypnea, retractions, hypoxemia, and often failure to thrive. The radiologic and physiologic findings in infants with NEHI have been well described with a distinct geographic pattern of ground-glass opacities on chest computerized tomography imaging and profound air-trapping on infant pulmonary function testing. Despite gradual improvement over time, unexplained exacerbation has been observed but not well characterized. We present physiological and radiological changes of increased air-trapping during acute exacerbations in two older children with NEHI who had previously experienced significant clinical improvement...
March 2016: Pediatric Pulmonology
Ernest Cutz
Pulmonary neuroendocrine cells (PNEC) are widely distributed throughout the airway mucosa of mammalian lung as solitary cells and as distinctive innervated clusters, neuroepithelial bodies (NEB). These cells differentiate early during lung development and are more prominent in fetal/neonatal lungs compared to adults. PNEC/NEB cells produce biogenic amine (serotonin) and a variety of peptides (i.e., bombesin) involved in regulation of lung function. During the perinatal period, NEB are thought to function as airway O(2)/CO(2) sensors...
November 2015: Seminars in Diagnostic Pathology
Michael Glenn O'Connor, Mark Wurth, Lisa R Young
No abstract text is available yet for this article.
November 2015: Annals of the American Thoracic Society
Daniela Rauch, Martin Wetzke, Simone Reu, Waltraud Wesselak, Andrea Schams, Meike Hengst, Birgit Kammer, Julia Ley-Zaporozhan, Matthias Kappler, Marijke Proesmans, Joanna Lange, Amparo Escribano, Eitan Kerem, Frank Ahrens, Frank Brasch, Nicolaus Schwerk, Matthias Griese
RATIONALE: Persistent tachypnea of infancy (PTI) is a specific clinical entity of undefined etiology comprising the two diseases neuroendocrine cell hyperplasia of infancy (NEHI) and pulmonary interstitial glycogenosis. The outcome of typical NEHI is favorable. The outcome may be different for patients without a typical NEHI presentation, and thus a lung biopsy to differentiate the diseases is indicated. OBJECTIVES: To determine whether infants with the characteristic clinical presentation and computed tomographic (CT) imaging of NEHI (referred to as "usual PTI") have long-term outcome and biopsy findings similar to those of infants with an aberrant presentation and/or with additional localized minor CT findings (referred to as "aberrant PTI")...
February 15, 2016: American Journal of Respiratory and Critical Care Medicine
Simon Livermore, Jie Pan, Herman Yeger, Peter Ratcliffe, Tammie Bishop, Ernest Cutz
Sustained exposure to low oxygen concentration leads to profound changes in gene expression to restore oxygen homeostasis. Hypoxia-inducible factors (HIFs) comprise a group of transcription factors which accumulate under hypoxia and contribute to the complex changes in gene expression. Under normoxic conditions HIFs are degraded by prolyl-hydroxylases (PHD), however during hypoxia this degradation is inhibited causing HIF accumulation and subsequent changes in gene expression. Pulmonary neuroepithelial bodies (NEB) are innervated serotonin (5-HT)-producing cells distributed throughout the airway epithelium...
2015: Advances in Experimental Medicine and Biology
E V Boĭtsova, M A Beliashova, D Iu Ovsiannikov
Interstitial lung diseases (ILD, diffuse lung diseases) are a heterogeneous group of diseases in which a pathological process primarily involved alveoli and perialveolar interstitium, resulting in impaired gas exchange, restrictive changes of lung ventilation function and diffuse interstitial changes detectable by X-ray. Children's interstitial lung diseases is an topical problem ofpediatricpulmonoogy. The article presents current information about classification, epidemiology, clinical presentation, diagnostics, treatment and prognosis of these rare diseases...
2015: Vestnik Rossiĭskoĭ Akademii Meditsinskikh Nauk
Slaveya G Yancheva, Asha Velani, Alexandra Rice, Angeles Montero, David M Hansell, Sergio Koo, Lina Thia, Andrew Bush, Andrew G Nicholson
AIMS: We have analysed levels of bombesin-positive neuroendocrine cells (NECs) in neuroendocrine cell hyperplasia of infancy (NEHI) and other childhood interstitial lung diseases (chILDs) in order to validate proposed histological criteria for NEHI and investigate its aetiology. METHODS AND RESULTS: The extent of bombesin-positive cells within airway epithelium was analysed in lung biopsies from seven patients diagnosed with NEHI, including two classified previously as non-diagnostic, and other chILDs (n = 64) with age ranges of 1 month-18 years...
October 2015: Histopathology
Hillary N Purcell, Allison Whisenhunt, Joy Cheng, Sophia Dimitriou, Lisa R Young, Daniel H Grossoehme
A child's chronic illness can lead parents to utilize different types of coping, including religious beliefs and practices. Previous studies have generally focused on life-shortening diagnoses. The present study explored parental use of faith when the diagnosis was not life-shortening, using grounded-theory qualitative methodology. Data were collected using semi-structured telephone interviews with N = 12 parents of children diagnosed with Neuroendocrine Hyperplasia of Infancy (NEHI); approximately 50% of the diagnosed population in the United States at the time of the interview...
2015: Journal of Health Care Chaplaincy
Joanna Lange, Megan Dishop, Katarzyna Krenke
Neuroendocrine cell hyperplasia of infancy is a rare form of children's interstitial lung disease recognised usually in infancy and in children younger than two years old. The typical clinical scenario, such as chest retractions, tachypnoea, hypoxaemia, crackles, characteristic changes in high-resolution computed tomography and histological examination of the lung parenchyma, is the cornerstone for diagnosis. In the article, the authors describe clinical manifestation of neuroendocrine cell hyperplasia and a present case of an infant with this rare interstitial lung disease...
2014: Pneumonologia i Alergologia Polska
Liyuan Lyu, Xiuyun Liu, Zaifang Jiang
No abstract text is available yet for this article.
April 2014: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Christin S Kuo, Lisa R Young
PURPOSE OF REVIEW: There has been tremendous progress in the approach to childhood interstitial lung diseases (chILD), with particular recognition that interstitial lung disease (ILD) in infants is often distinct from the forms that occur in older children and adults. Diagnosis is challenging because of the rarity of ILD and the fact that the presenting symptoms of ILD often overlap those of common respiratory disorders. This review summarizes the newly published recommendations for diagnosis and management, and highlights the recent scientific advances in several specific forms of chILD...
June 2014: Current Opinion in Pediatrics
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