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https://www.readbyqxmd.com/read/28898549/filamin-a-flna-mutation-a-newcomer-to-the-childhood-interstitial-lung-disease-child-classification
#1
Susan C Shelmerdine, Thomas Semple, Colin Wallis, Paul Aurora, Shahin Moledina, Michael T Ashworth, Catherine M Owens
AIM: Interstitial lung disease (ILD) in infants represents a rare and heterogenous group of disorders, distinct from those occurring in adults. In recent years a new entity within this category is being recognized, namely filamin A (FLNA) mutation related lung disease. Our aims are to describe the clinical and radiological course of patients with this disease entity to aid clinicians in the prognostic counseling and management of similar patients they may encounter. METHOD: A retrospective case note review was conducted of all patients treated at our institution (a specialist tertiary referral childrens' center) for genetically confirmed FLNA mutation related lung disease...
September 12, 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28831595/juvenile-systemic-sclerosis-experience-from-a-tertiary-care-center-from-india
#2
Narendra Kumar Bagri, Dinesh Raj, Jasmeet Kaur, Harish Punia, Isha Saini, Rakesh Lodha, S K Kabra
Juvenile systemic sclerosis (JSSc) is a rare disorder with paucity of information on its treatment and longterm  outcome. Herein, we are sharing our experience with this rare entity. Case records of children, diagnosed to have systemic sclerosis attending Pediatric Rheumatology Clinic at All India Institute of Medical Sciences, New Delhi from January 1998 to June 2016 were reviewed. The demographic, clinical, laboratory, treatment and outcome details were recorded. Disease outcome was classified arbitrarily as controlled, partly controlled or non-responsive/progressive based on: (A) ability to perform activities of daily life (ADL) and (B) presence or absence of musculoskeletal symptoms, skin changes (ulceration/progressive digital pitting/gangrene), and visceral organ involvement (dyspahgia, cardiopulmonary symptoms)...
August 22, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28828139/an-unusual-radiologic-manifestation-of-hypersensitivity-pneumonia
#3
Seema Toso, Meryle Laurent, Isabelle Ruchonnet-Metrailler, Jean-Claude Pache, Sylviane Hanquinet
Hypersensitivity pneumonia is clinically suspected and can be characterized on computed tomography by its pattern of diffuse lung disease, in children, as in adults. However, identifying the diagnosis is not always as simple. We report an organizing pneumonia pattern of hypersensitivity pneumonia that can be seen in adult patients, but has not been reported in the pediatric population.
September 2017: Radiology case reports
https://www.readbyqxmd.com/read/28744781/lung-function-in-pregnancy-in-langerhans-cell-histiocytosis
#4
Elżbieta Radzikowska, Elżbieta Wiatr, Monika Franczuk, Iwona Bestry, Kazimierz Roszkowski-Śliż
Pulmonary Langerhans cell histiocytosis (LCH) is a rare disease, affecting usually young people. The course of the disease is variable. In some pulmonary LCH patients a severe lung destruction and progression in spite of chemotherapy is observed, but in others just a cessation of smoking induces a regression of the disease. In the present study we seek to determine the influence of pregnancy on pulmonary function in LCH patients, an unchartered area of research. We addressed the issue by investigating eight pregnant women out of the 45 women hospitalized with the diagnosis of pulmonary LCH in the period from 2000 to 2015...
July 26, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28719106/altered-pulmonary-gas-transfer-capacity-and-capillary-blood-volume-in-pediatric-crohn-s-disease
#5
Marie Verstraete, Marie-Luce Choukroun, Valerie Siao-Him Fa, Michael Fayon, Laurent Rebouissoux, Raphael Enaud, Thierry Lamireau
OBJECTIVES: To describe diffusing capacity for carbon monoxide (DLCO) and its components, that is, membrane diffusing capacity (DmCO) and pulmonary capillary blood volume (Vc) in children with Crohn's disease (CD), and to investigate the correlation between these parameters and disease activity. WORKING HYPOTHESIS: The most common lung function abnormalities are a reduced pulmonary DLCO and small airways disorders which are in many instances, clinically silent. No valid explanations have been proposed regarding the modifications in gas transfer capacity in active CD...
August 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28665296/comparison-of-feasibility-and-estimates-of-central-and-peripheral-nitric-oxide-parameters-by-different-mathematical-models
#6
Tuomas Karvonen, Hannu Kankaanranta, Seppo Saarelainen, Eeva Moilanen, Lauri Lehtimäki
Assessing central and peripheral nitric oxide (NO) dynamics of the lung provides information on the severity and anatomical site of pulmonary inflammation. Several mathematical methods to calculate alveolar and bronchial NO parameters have been introduced. Our aim was to compare these methods. Methods: The study included 69 healthy adults, 66 healthy children, 73 asbestos-exposed subjects and 72 subjects with chronic obstructive pulmonary disease (COPD). Exhaled NO was measured at multiple flow rates and we used five mathematical methods (Tsoukias & George, Pietropaoli, Condorelli, Högman & Meriläinen, and Silkoff) to estimate alveolar and bronchial NO parameters...
June 30, 2017: Journal of Breath Research
https://www.readbyqxmd.com/read/28655531/results-of-the-3-rd-associazione-italiana-ematologia-oncologia-pediatrica-aieop-cooperative-protocol-on-wilms-tumor-tw2003-and-related-considerations
#7
Filippo Spreafico, Davide Biasoni, Salvatore Lo Vullo, Lorenza Gandola, Paolo D'Angelo, Monica Terenziani, Maurizio Bianchi, Provenzi Massimo, Paolo Indolfi, Pession Andrea, Nantron Marilina, Andrea Di Cataldo, Carlo Morosi, Daniela Perotti, Serena Catania, Franca Fossati Bellani, Paola Collini
PURPOSE: TW2003, the 3(rd) Italian prospective study on Wilms tumor (WT), aimed to improve survival in patients with stage III-IV tumors, de-escalate therapy for stage I-II non-anaplastic tumors, refine the risk stratification of therapy, and develop a national infrastructure for biobanking and central pathology review. METHODS: TW2003 recruited children ≤18 years old with primary intrarenal tumors. Local physicians chose nephrectomy with or without preoperative chemotherapy as the initial treatment, based on the risk of unsafe and/or incomplete immediate surgery...
June 24, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28649564/primary-ciliary-dyskinesia-an-update-on-clinical-aspects-genetics-diagnosis-and-future-treatment-strategies
#8
REVIEW
Virginia Mirra, Claudius Werner, Francesca Santamaria
Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10,000 to 1:20,000 live-born children, but true prevalence could be even higher. PCD is characterized by chronic upper and lower respiratory tract disease, infertility/ectopic pregnancy, and situs anomalies, that occur in ≈50% of PCD patients (Kartagener syndrome), and these may be associated with congenital heart abnormalities...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28592015/-clinical-manifestations-of-three-cases-of-surfactant-protein-c-p-v39l-mutation
#9
J H Chen, D Y Zhao, S H An, Y J Zheng, H P Wang, H L Ma
Objective: To investigate the clinical manifestations of surfactant protein C gene (SFTPC) exon-2 c. 115G>G/T (p.V39L). Method: Patients were screened for the entire coding sequence of SFTPC. Three cases from three children's hospital with mutation in p. V39L were reported. Result: All the three cases were females. The age of onset ranged from 2 months to 7 years. Two cases had recurrent lower respiratory tract infection and failed to thrive. One had chronic anoxia and clubbing fingers. Chest computed tomography (CT) showed diffused ground glass pattern, localized emphysema and intralobular septal thickening...
June 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28544706/exhaled-nitric-oxide-pulmonary-function-and-disease-activity-in-children-with-systemic-lupus-erythematosus
#10
Jitladda Deerojanawong, Pitchaya Leartphichalak, Ankanee Chanakul, Suchada Sritippayawan, Rujipat Samransamruajkit
AIM: To determine the association among fractional exhaled nitric oxide (FENO), pulmonary function, and disease activity in children with systemic lupus erythematosus (SLE). METHODS: Children aged 7-18 years, diagnosed with SLE under the criteria of the American Rheumatism Association (revised 2012), were enrolled. All eligible participants had disease activity, FENO, and pulmonary function evaluated and re-evaluated at 6-month follow-up. RESULTS: Twenty-four children (95...
May 22, 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28512724/congenital-pulmonary-alveolar-proteinosis-from-birth-to-ten-years-of-age
#11
Sandra Alavuk Kundović, Ljiljana Popović
Pulmonary alveolar proteinosis is a rare lung disease in which lipoproteinaceous material accumulates within the alveoli, interfering with gas exchange. The disease is classified into congenital, secondary, and acquired. The congenital form includes inborn errors of surfactant metabolism, lysinuric protein intolerance and mutations in the components of granulocyte-macrophage colony-stimulating factor receptor. The main symptoms are non-specific. The radiologic appearance of pulmonary alveolar proteinosis is bilateral, symmetric and perihilar airspace consolidation...
May 17, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28427542/recurrent-respiratory-papillomatosis-a-state-of-the-art-review
#12
REVIEW
Helena Ribeiro Fortes, Felipe Mussi von Ranke, Dante Luiz Escuissato, Cesar Augusto Araujo Neto, Gláucia Zanetti, Bruno Hochhegger, Carolina Althoff Souza, Edson Marchiori
Recurrent respiratory papillomatosis (RRP) is a benign disease of the upper aero-digestive tract caused by human papillomavirus (HPV) infection, which affects children and young adults. The aim of this review is to describe the main etiological, epidemiological, clinical, diagnostic, and treatment aspects of RRP. Most infections in children occur at birth, during passage through the birth canals of contaminated mothers. In adults, HPV is transmitted sexually. Papillomas usually appear as exophytic nodules, primarily in the larynx, but occasionally involving the nasopharynx, tracheobronchial tree, and pulmonary parenchyma...
May 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/28410589/lung-involvement-in-childhood-onset-granulomatosis-with-polyangiitis
#13
REVIEW
Giovanni Filocamo, Sofia Torreggiani, Carlo Agostoni, Susanna Esposito
Granulomatosis with polyangiitis is an ANCA-associated systemic vasculitis with a low incidence in the pediatric population. Lung involvement is a common manifestation in children affected by granulomatosis with polyangiitis, both at disease's onset and during flares. Its severity is variable, ranging from asymptomatic pulmonary lesions to dramatic life-threatening clinical presentations such as diffuse alveolar haemorrhage. Several radiologic findings have been described, but the most frequent abnormalities detected are nodular lesions and fixed infiltrates...
April 14, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28363760/interstitial-lung-disease-in-newborns
#14
REVIEW
Lawrence M Nogee
The term 'interstitial lung disease' (ILD) refers to a group of disorders involving both the airspaces and tissue compartments of the lung, and these disorders are more accurately termed diffuse lung diseases. Although rare, they are associated with significant morbidity and mortality, with the prognosis depending upon the specific diagnosis. The major categories of ILD in children that present in the neonatal period include developmental disorders, growth disorders, surfactant dysfunction disorders, and specific conditions of unknown etiology unique to infancy...
August 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28349192/-interstitial-processes-of-the-lungs-in-childhood
#15
H Popper
Interstitial processes in the lungs of children can be due to several underlying diseases. Knowledge of the child's age is important as genetic aberrations play a major role in diseases in the first 2 years, whereas immunological diseases are more common starting in kindergarden age. In general lung diseases are rare in children, which makes the diagnostics difficult and results in a delayed diagnosis. In addition, pediatric pulmonologists are often very reluctant to perform lung biopsies due to a lack of a specialized pathologist...
July 2017: Der Pathologe
https://www.readbyqxmd.com/read/28333695/pulmonary-manifestations-of-rheumatologic-diseases
#16
Michal Cidon, Manvi Bansal, Dominik Hartl
PURPOSE OF REVIEW: The present review intends to provide an overview of the diversity and complexity of pulmonary manifestations of rheumatologic diseases and gaps in knowledge to effectively manage them. RECENT FINDINGS: Diffuse lung disease in children with rheumatologic diseases represents a heterogeneous group of autoimmune disorders. Despite their significant morbidity and mortality, we have limited understanding about their pathogenesis. Here, we provide an overview of the pathophysiology and current management approach of these disorders, highlighting tools which assist with diagnosis, risk stratification and therapy...
June 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28119488/altered-lung-structure-and-function-in-mid-childhood-survivors-of-very-preterm-birth
#17
Shannon J Simpson, Karla M Logie, Christopher A O'Dea, Georgia L Banton, Conor Murray, Andrew C Wilson, J Jane Pillow, Graham L Hall
RATIONALE: Survivors of preterm birth are at risk of chronic and lifelong pulmonary disease. Follow-up data describing lung structure and function are scarce in children born preterm during the surfactant era. OBJECTIVES: To obtain comprehensive data on lung structure and function in mid-childhood from survivors of preterm birth. We aimed to explore relationships between lung structure, lung function and respiratory morbidity as well as early life contributors to poorer childhood respiratory outcomes...
August 2017: Thorax
https://www.readbyqxmd.com/read/27668919/the-utility-of-bedside-lung-ultrasound-findings-in-bronchiolitis
#18
MULTICENTER STUDY
Joanna S Cohen, Naomi Hughes, Sonny Tat, James M Chamberlain, Stephen J Teach, Keith Boniface
OBJECTIVES: Recent literature suggests that bedside lung ultrasound may have a role in the evaluation of infants with bronchiolitis. B lines, which are multiple and diffuse vertical artifacts spreading from the lung pleural interface to the edge of the ultrasound screen, have been associated with thickened interlobular septa, extravascular lung water, and diffuse parenchymal disease. The aims of this study were (1) to describe the prevalence of B lines in children younger than 24 months presenting to the emergency department with wheezing, (2) to determine the interrater reliability of lung ultrasound findings in this setting, and (3) to determine the association of B lines with atopy and other clinical findings...
February 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/27666511/clinical-cytological-and-microbiological-evaluation-of-bronchoalveolar-lavage-in-children-a-referral-hospital-based-study
#19
Babak Pourakbari, Shima Mahmoudi, Amir Hossein Jafari, Abbas Bahador, Sepideh Keshavarz Valian, Reihaneh Hosseinpour Sadeghi, Setareh Mamishi
INTRODUCTION: Diffuse lung diseases (DLD) in children involve a group of heterogeneous, rare disorders. In spite of the low diagnostic yield in pediatric DLD, bronchoalveolar lavage (BAL) can be used to diagnose specific disorders. There are few studies about microbial and cellular profiles of BAL samples in these patients. This study was conducted to evaluate the clinical, cytological and microbiological evaluation of BAL in children with DLD. METHODS: The clinical, cytological and microbiological profiles of BAL samples of all patients with DLD who underwent the fiberoptic bronchoscopy (FOB) at Children's Medical Center, an Iranian referral pediatrics Hospital during a year were evaluated...
November 2016: Microbial Pathogenesis
https://www.readbyqxmd.com/read/27651243/radiological-patterns-of-childhood-thoracic-tuberculosis-in-a-developed-country-a-single-institution-s-experience-on-217-255-cases
#20
Paolo Tomà, Laura Lancella, Laura Menchini, Roberta Lombardi, Aurelio Secinaro, Alberto Villani
The incidence of tuberculosis is increasing in the developed world and children in particular represent a high-risk group for developing the disease. The aim of this review is to analyse the spectrum of radiological signs as reported in the recent literature, in light of our series over a 15-year period, to pinpoint the most common radiological patterns in a developed country and to determine the role played by the different chest imaging techniques in diagnosis improvement. Lung TB was present in 217 out of 255 patients (85 %): 146 patients were under 5 years of age (76 under 2 years) and 71 over 5 years (41 over 10 years)...
January 2017: La Radiologia Medica
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