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Congenital lung disorder

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https://www.readbyqxmd.com/read/29728782/respiratory-syncytial-virus-prophylaxis-in-cystic-fibrosis-the-canadian-registry-of-palivizumab-data-2005-2016
#1
Ian Mitchell, S K Wong, B Paes, M Ruff, C Bjornson, A Li, K L Lanctôt
Respiratory syncytial virus (RSV) may cause severe illness in cystic fibrosis (CF) children, but recommendations vary on prophylaxis. CARESS is a prospective registry of children who received palivizumab in 32 Canadian sites from 2005 to 2016. Demographic data were collected at enrollment and respiratory illness-related events recorded monthly. We reviewed respiratory illness hospitalization (RIH) and RSV hospitalization (RSVH) in CF children aged < 24 months versus those prophylaxed for standard indications (SI; prematurity, chronic lung disease [CLD] and congenital heart disease [CHD]), and complex medical disorders (CM)...
May 4, 2018: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/29623024/accessory-scrotum-and-congenital-perineal-lipoma-in-a-child-with-type-2-congenital-pulmonary-airway-malformation-a-report-of-an-unusual
#2
Amany Abdulgader Fathaddin
Accessory scrotum and congenital perineal lipoma are unusual congenital anomalies. Congenital pulmonary airway malformation (CPAM) is a rare congenital disorder of the lung. There are five types of CPAM, each with a different clinical presentation and prognosis. The present report involves a case of type 2 CPAM associated with accessory scrotum and congenital perianal lipoma.
January 2018: International Journal of Health Sciences
https://www.readbyqxmd.com/read/29613970/transient-tachypnea-of-the-newborn-is-associated-with-an-increased-risk-of-hospitalization-due-to-rsv-bronchiolitis
#3
Santtu Heinonen, Liina Süvari, Mika Gissler, Olli Pitkänen, Sture Andersson, Otto Helve
BACKGROUND: Transient tachypnea of the newborn (TTN) is a self-limiting respiratory disorder, resulting from a failure to clear the lungs of perinatal fluid. As similar pathophysiological features are present in children with respiratory syncytial virus (RSV) bronchiolitis, we hypothesized that these two conditions may be connected. METHODS: This was a population-based cohort study that included all children born in term (≥37 weeks of gestation) without congenital malformations in Finland between 1996 and 2015...
April 2, 2018: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/29556698/-specific-characteristics-of-chest-x%C3%A2-ray-in-childhood-basics-for-radiologists
#4
K Schneider
The radiographic technique of pediatric chest X‑rays is substantially different from that in adults. In nearly all cases ap/pa X‑rays are sufficient and lateral radiographs are rarely needed. In the first years of life the thymus may overshadow the heart, the great vessels and the lung hila. The most important anatomical structures essential for diagnosing pathological findings of the lungs and mediastinum are the trachea with the bifurcation and the main bronchi with the adjacent great vessels. For the assessment of distended lungs and intrathoracic consolidations, fundamental knowledge of the anatomy in childhood and malformations which can involve the airways, the lungs, the heart, as well as systemic and pulmonary vessels are indispensable...
March 19, 2018: Der Radiologe
https://www.readbyqxmd.com/read/29398281/neurocognitive-outcomes-after-heart-transplantation-in-early-childhood
#5
Simon Urschel, Gwen Y Bond, Irina A Dinu, Fahime Moradi, Jennifer Conway, Gonzalo Garcia-Guerra, Bryan V Acton, Ari R Joffe, Mohammed AlAklabi, Ivan M Rebeyka, Charlene M T Robertson
BACKGROUND: Children requiring heart transplantation (HTx) for congenital heart disease (CHD) or failing anatomically normal hearts (CMP) face different challenges pre-HTx. We compared the neurocognitive capabilities in pre-school-age children receiving HTx for CHD vs CMP and determined factors predicting outcomes. METHODS: Data were collected within a prospective multi-provincial project from children who underwent HTx ≤4 years of age between 1999 and 2011. At age 54 ± 3 months, we obtained scores from the Wechsler Preschool and Primary Scales of Intelligence for full-scale intelligence quotient (FSIQ) verbal intelligence quotient (VIQ) and performance intelligence quotient (PIQ), and from the Beery-Buktenica Developmental Test for visual-motor integration (VMI)...
December 20, 2017: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/29284507/a-pediatric-disease-to-keep-in-mind-diagnostic-tools-and-management-of-bronchiectasis-in-pediatric-age
#6
REVIEW
Marcella Gallucci, Emanuela di Palmo, Luca Bertelli, Federica Camela, Giampaolo Ricci, Andrea Pession
Bronchiectasis in pediatric age is a heterogeneous disease associated with significant morbidity.The most common medical conditions leading to bronchial damage are previous pneumonia and recurrent lower airway infections followed by underlying diseases such as immune-deficiencies, congenital airway defects, recurrent aspirations and mucociliary clearance disorders.The most frequent symptom is chronic wet cough. The introduction of high-resolution computed tomography (HRCT) has improved the time of diagnosis allowing earlier treatment...
December 29, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29213088/nsd1-inactivation-defines-an-immune-cold-dna-hypomethylated-subtype-in-squamous-cell-carcinoma
#7
Kevin Brennan, June Ho Shin, Joshua K Tay, Marcos Prunello, Andrew J Gentles, John B Sunwoo, Olivier Gevaert
Chromatin modifying enzymes are frequently mutated in cancer, resulting in widespread epigenetic deregulation. Recent reports indicate that inactivating mutations in the histone methyltransferase NSD1 define an intrinsic subtype of head and neck squamous cell carcinoma (HNSC) that features pronounced DNA hypomethylation. Here, we describe a similar hypomethylated subtype of lung squamous cell carcinoma (LUSC) that is enriched for both inactivating mutations and deletions in NSD1. The 'NSD1 subtypes' of HNSC and LUSC are highly correlated at the DNA methylation and gene expression levels, featuring ectopic expression of developmental transcription factors and genes that are also hypomethylated in Sotos syndrome, a congenital disorder caused by germline NSD1 mutations...
December 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29159459/epg5-related-vici-syndrome-a-primary-defect-of-autophagic-regulation-with-an-emerging-phenotype-overlapping-with-mitochondrial-disorders
#8
Shanti Balasubramaniam, Lisa G Riley, Anand Vasudevan, Mark J Cowley, Velimir Gayevskiy, Carolyn M Sue, Caitlin Edwards, Edward Edkins, Reimar Junckerstorff, C Kiraly-Borri, P Rowe, J Christodoulou
Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation. In addition, three equally consistent features (profound developmental delay, progressive failure to thrive and acquired microcephaly) are highly supportive of the diagnosis. Since its recognition as a distinct entity in 1988, an extended phenotype with sensorineural hearing loss, skeletal myopathy and variable involvement of virtually any organ system, including the lungs, thyroid, liver and kidneys, have been described...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29152426/an-overview-of-infant-mortality-trends-in-qatar-from-2004-to-2014
#9
Mohammed Al-Thani, Al-Anoud Al-Thani, Amine Toumi, Shams Eldin Khalifa, Hammad Akram
Background Infant mortality is an important health indicator that estimates population well-being. Infant mortality has declined globally but is still a major public health challenge. This article provides the characteristics, causes, burden, and trends of infant mortality in Qatar. Methods Frequencies, percentages, and rates were calculated using data from birth-death registries over 2004-2014 to describe infant mortality by nationality, gender, and age group. We calculated the relative risks of the top causes of infant mortality among subgroups according to the 10th Revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10, Version 2016)...
September 9, 2017: Curēus
https://www.readbyqxmd.com/read/29110827/long-term-outcomes-of-congenital-lung-malformations
#10
Nigel J Hall, Michael P Stanton
Congenital lung malformations comprise a group of anatomical abnormalities of the respiratory tree including congenital cystic malformations, bronchopulmonary sequestrations, bronchogenic cyst, bronchial atresia, and congenital lobar emphysema. These anomalies are detected with increasing frequency by pre-natal sonography, but may also present for the first time with symptoms in childhood or later life. When symptomatic, there is little controversy that resection is indicated, which is usually curative. When a lesion is asymptomatic there is greater debate regarding the benefit of resection versus continued observation...
October 2017: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/28993401/diagnosis-and-management-of-noncardiac-complications-in-adults-with-congenital-heart-disease-a-scientific-statement-from-the-american-heart-association
#11
REVIEW
George K Lui, Arwa Saidi, Ami B Bhatt, Luke J Burchill, Jason F Deen, Michael G Earing, Michael Gewitz, Jonathan Ginns, Joseph D Kay, Yuli Y Kim, Adrienne H Kovacs, Eric V Krieger, Fred M Wu, Shi-Joon Yoo
Life expectancy and quality of life for those born with congenital heart disease (CHD) have greatly improved over the past 3 decades. While representing a great advance for these patients, who have been able to move from childhood to successful adult lives in increasing numbers, this development has resulted in an epidemiological shift and a generation of patients who are at risk of developing chronic multisystem disease in adulthood. Noncardiac complications significantly contribute to the morbidity and mortality of adults with CHD...
November 14, 2017: Circulation
https://www.readbyqxmd.com/read/28973288/novel-foxa2-mutation-causes-hyperinsulinism-hypopituitarism-with-craniofacial-and-endoderm-derived-organ-abnormalities
#12
Dinesh Giri, Maria Lillina Vignola, Angelica Gualtieri, Valeria Scagliotti, Paul McNamara, Matthew Peak, Mohammed Didi, Carles Gaston-Massuet, Senthil Senniappan
Congenital hypopituitarism (CH) is characterized by the deficiency of one or more pituitary hormones and can present alone or in association with complex disorders. Congenital hyperinsulinism (CHI) is a disorder of unregulated insulin secretion despite hypoglycaemia that can occur in isolation or as part of a wider syndrome. Molecular diagnosis is unknown in many cases of CH and CHI. The underlying genetic etiology causing the complex phenotype of CH and CHI is unknown. In this study, we identified a de novo heterozygous mutation in the developmental transcription factor, forkhead box A2, FOXA2 (c...
November 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28962659/polysplenia-syndrome-with-duodenal-and-pancreatic-dysplasia-in-a-holstein-calf-a-case-report
#13
Daisuke Kondoh, Tomomi Kawano, Tomoaki Kikuchi, Kaoru Hatate, Kenichi Watanabe, Motoki Sasaki, Norio Yamagishi, Hisashi Inokuma, Nobuo Kitamura
BACKGROUND: Laterality disorders of the abdominal organs include situs inversus totalis that mirrors the arrangements of all internal organs and heterotaxy syndrome (situs ambiguus) in which the thoracic or abdominal organs are abnormally arranged. Heterotaxy is often accompanied by multiple congenital malformations, and it generally comprises asplenia and polysplenia syndromes. To our knowledge, polysplenia syndrome has been reported in only three cattle, and computerized tomographic (CT) images of these animals were not obtained...
September 29, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/28922348/stem-cell-biology-and-regenerative-medicine-for-neonatal-lung-diseases
#14
REVIEW
Martin Kang, Bernard Thébaud
Lung diseases remain one of the main causes of morbidity and mortality in neonates. Cell therapy and regenerative medicine have the potential to revolutionize the management of life-threatening and debilitating lung diseases that currently lack effective treatments. Over the past decade, the repair capabilities of stem/progenitor cells have been harnessed to prevent/rescue lung damage in experimental neonatal lung diseases. Mesenchymal stromal cells and amnion epithelial cells exert pleiotropic effects and represent ideal therapeutic cells for bronchopulmonary dysplasia, a multifactorial disease...
January 2018: Pediatric Research
https://www.readbyqxmd.com/read/28899465/-clinical-features-and-myo5b-mutations-of-a-family-affected-by-microvillus-inclusion-disease
#15
Ying Cheng, Hong Liang, Na-Li Cai, Li Guo, Yu-Ge Huang, Yuan-Zong Song
Microvillus inclusion disease (MVID) is an autosomal recessive disorder caused by biallelic mutations in the MYO5B or STX3 gene. Refractory diarrhea and malabsorption are the main clinical manifestations. The aim of this study was to investigate the clinical features and MYO5B gene mutations of an infant with MVID. A 21-day-old female infant was referred to the hospital with the complaint of diarrhea for 20 days. On physical examination, growth retardation of the body weight and length was found along with moderately jaundiced skin and sclera...
September 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28884888/foxp1-haploinsufficiency-phenotypes-beyond-behavior-and-intellectual-disability
#16
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
https://www.readbyqxmd.com/read/28873355/pulmonary-interstitial-glycogenosis-associated-with-a-spectrum-of-neonatal-pulmonary-disorders
#17
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
https://www.readbyqxmd.com/read/28740838/a-rare-case-of-centronuclear-myopathy-with-dnm2-mutation-genotype-phenotype-correlation
#18
REVIEW
Amir Ghorbani Aghbolaghi, Mirna Lechpammer
Centronuclear myopathy (CNM) is a group of rare genetic muscle disorders characterized by muscle fibers with centrally located nuclei. The most common forms of CNM have been attributed to X-linked recessive mutations in the MTM1 gene; autosomal-dominant mutations in the DNM2 gene-encoding dynamin-2, the BIN1 gene; and autosomal-recessive mutations in BIN1, RYR1, and TTN genes. Dominant CNM due to DNM2 mutations usually follows a mild clinical course with the onset in adolescence. Currently, around 35 mutations of the DNM2 gene have been identified in CNM; however, the underlying molecular mechanism of DNM2 mutation in the pathology of CNM remains elusive, and the standard clinical characteristics have not yet been defined...
April 2017: Autopsy & Case Reports
https://www.readbyqxmd.com/read/28718185/congenital-pulmonary-lymphangiectasia-a-disorder-not-only-of-fetoneonates
#19
Shi-Min Yuan
Congenital pulmonary lymphangiectasia (CPL) is a rare developmental disorder of the lung, characterized by dilation of pulmonary subpleural, interlobar, perivascular and peribronchial lymphatics. The incidence of CPL among stillborn and neonates was estimated to be <1%. The etiology of CPL is unknown. However, it has been suspected to be of a genetic background. Recent basic studies revealed that it might be caused by the FOXC2, Vegfr-3 and integrin α9β1gene mutations. A clinical diagnosis of CPL can be made much easier in full-term neonates who present with respiratory distress, pleural (especially chylous) effusions with or without generalized edema...
July 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/28690992/diabetes-mellitus-due-to-agenesis-of-the-dorsal-pancreas-in-a-patient-with-heterotaxy-syndrome
#20
Jo Eun Jung, Jin Ho Hur, Mo Kyung Jung, Ahreum Kwon, Hyun Wook Chae, Duk Hee Kim, Ho-Seong Kim
Heterotaxy syndrome (HS) is a congenital disorder resulting from an abnormal arrangement of visceral organs across the normal left-right axis in the embryonic period. HS is usually associated with multiple anomalies, including defects of the major cardiovascular system and the extracardiovascular system such as intestinal malrotation, abnormal lung lobulation, bronchus anomalies, and pancreatic dysplasia. Although pancreatic dysplasia is occasionally accompanied with HS, the occurrence of diabetes mellitus (DM) due to pancreatic dysplasia in HS is rarely reported...
June 2017: Annals of Pediatric Endocrinology & Metabolism
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