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Congenital lung disorder

Dalya Ataca, Marian Caikovski, Alessandra Piersigilli, Alexandre Moulin, Charaf Benarafa, Sarah E Earp, Yakir Guri, Corinne Kostic, Yvan Arsenivic, Raija Soininen, Suneel S Apte, Cathrin Brisken
The ADAMTS family comprises 19 secreted metalloproteinases that cleave extracellular matrix components and have diverse functions in numerous disease and physiological contexts. A number of them remain 'orphan' proteases, among them ADAMTS18, which has been implicated in developmental eye disorders, platelet function and various malignancies. To assess in vivo function of ADAMTS18, we generated a mouse strain with inactivated Adamts18 alleles. In the C57Bl6/Ola background, Adamts18 deficient mice are born in a normal Mendelian ratio, and are viable but show a transient growth delay...
October 11, 2016: Biology Open
Steven H Abman
PURPOSE OF REVIEW: Pediatric pulmonary vascular disease contributes to morbidities and death in diverse clinical settings, ranging from idiopathic or heritable forms of pediatric arterial hypertension, congenital heart disease, developmental lung disorders, chronic lung disease, left heart disease, sickle cell disease, oncologic disease, and systemic disorders. Despite its impact on the clinical courses in so many diseases, information is limited on how to best approach the diagnosis and evaluation of pediatric pulmonary hypertension...
October 2016: Current Opinion in Pediatrics
Patricia K Donahoe, Mauro Longoni, Frances A High
Congenital diaphragmatic hernia (CDH) is one of the most common and lethal congenital anomalies, and significant evidence is available in support of a genetic contribution to its etiology, including single-gene knockout mice associated with diaphragmatic defects, rare monogenetic disorders in humans, familial aggregation, and association of CDH with chromosomal abnormalities. Structural lung defects in the form of lung hypoplasia are almost invariably seen in patients with CDH and frequently in animal models of this condition...
October 2016: American Journal of Pathology
Julia Wallmeier, Hidetaka Shiratori, Gerard W Dougherty, Christine Edelbusch, Rim Hjeij, Niki T Loges, Tabea Menchen, Heike Olbrich, Petra Pennekamp, Johanna Raidt, Claudius Werner, Katsura Minegishi, Kyosuke Shinohara, Yasuko Asai, Katsuyoshi Takaoka, Chanjae Lee, Matthias Griese, Yasin Memari, Richard Durbin, Anja Kolb-Kokocinski, Sascha Sauer, John B Wallingford, Hiroshi Hamada, Heymut Omran
Multiprotein complexes referred to as outer dynein arms (ODAs) develop the main mechanical force to generate the ciliary and flagellar beat. ODA defects are the most common cause of primary ciliary dyskinesia (PCD), a congenital disorder of ciliary beating, characterized by recurrent infections of the upper and lower airways, as well as by progressive lung failure and randomization of left-right body asymmetry. Using a whole-exome sequencing approach, we identified recessive loss-of-function mutations within TTC25 in three individuals from two unrelated families affected by PCD...
August 4, 2016: American Journal of Human Genetics
Bo Lund Krogsgaard Chawes
Asthma and allergies are today the most common chronic diseases in children and the leading causes of school absences, chronic medication usage, emergency department visits and hospitalizations, which affect all members of the family and represent a significant societal and scientific challenge. These highly prevalent disorders are thought to originate from immune distortion in early childhood, but the etiology and heterogeneity of the disease mechanisms are not understood, which hampers preventive initiatives and makes treatment inadequate...
August 2016: Danish Medical Journal
Ümit Karadeniz, Aslı Demir, Rabia Koçulu
Long QT syndrome is a congenital disorder that is characterized by a prolongation of the QT interval on electrocardiograms and a propensity to ventricular tachyarrhythmias, which may lead to syncope, cardiac arrest or sudden death. Cardiomyopathy and pulmonary hypertension diseases have additional risks in anaesthesia management. In this study, we emphasize on one lung ventilation, pacemaker-implantable cardioverter-defibrillator and the anaesthesia management process in a patient with long QT syndrome, cardiomyopathy and pulmonary hypertension who underwent thoracic sympathectomy...
February 2016: Turkish Journal of Anaesthesiology and Reanimation
S Lakshminrusimha, O D Saugstad
Neonatal hypoxemic respiratory failure (HRF), a deficiency of oxygenation associated with insufficient ventilation, can occur due to a variety of etiologies. HRF can result when pulmonary vascular resistance (PVR) fails to decrease at birth, leading to persistent pulmonary hypertension of newborn (PPHN), or as a result of various lung disorders including congenital abnormalities such as diaphragmatic hernia, and disorders of transition such as respiratory distress syndrome, transient tachypnea of newborn and perinatal asphyxia...
June 2016: Journal of Perinatology: Official Journal of the California Perinatal Association
Marius M Hoeper, Marc Humbert, Rogerio Souza, Majdy Idrees, Steven M Kawut, Karen Sliwa-Hahnle, Zhi-Cheng Jing, J Simon R Gibbs
Pulmonary hypertension is a substantial global health issue. All age groups are affected with rapidly growing importance in elderly people, particularly in countries with ageing populations. Present estimates suggest a pulmonary hypertension prevalence of about 1% of the global population, which increases up to 10% in individuals aged more than 65 years. In almost all parts of the world, left-sided heart and lung diseases have become the most frequent causes of pulmonary hypertension. About 80% of affected patients live in developing countries, where pulmonary hypertension is frequently associated with congenital heart disease and various infectious disorders, including schistosomiasis, HIV, and rheumatic heart disease...
April 2016: Lancet Respiratory Medicine
Ernani B da Rosa, Daniélle B Silveira, Laís G Tsugami, Nathan L Bellé, Izabelle O Matos, Luciano V Targa, Rosilene da S Betat, André C da Cunha, Rolando A R Villacis, Sílvia R Rogatto, Luiza E Dorfman, Rafael F M Rosa, Paulo R G Zen
BACKGROUND: Nasoethmoidal meningocele is considered an uncommon type of cephalocele, and congenital cystic adenomatoid malformation (CCAM) is a rare lung disorder characterized by overgrowth of the terminal bronchioles. CASE: We report the unusual association between a nasoethmoidal meningocele and CCAM type II in a fetus exposed to valproic acid and misoprostol. The mother was an 18-year-old woman on her first pregnancy. She had a history of absence seizures since she was 5 years old...
April 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
Susan Byrne, Carlo Dionisi-Vici, Luke Smith, Mathias Gautel, Heinz Jungbluth
Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency. Profound developmental delay, progressive failure to thrive and acquired microcephaly are almost universal, suggesting an evolving (neuro) degenerative component. In most patients there is additional variable multisystem involvement that may affect virtually any organ system, including lungs, thyroid, liver and kidneys...
2016: Orphanet Journal of Rare Diseases
Yoav Dori, Marc S Keller, Jonathan J Rome, Matthew J Gillespie, Andrew C Glatz, Kathryn Dodds, David J Goldberg, Samuel Goldfarb, Jack Rychik, Maxim Itkin
BACKGROUND: Plastic bronchitis is a potentially fatal disorder occurring in children with single-ventricle physiology, and other diseases, as well, such as asthma. In this study, we report findings of abnormal pulmonary lymphatic flow, demonstrated by MRI lymphatic imaging, in patients with plastic bronchitis and percutaneous lymphatic intervention as a treatment for these patients. METHODS AND RESULTS: This is a retrospective case series of 18 patients with surgically corrected congenital heart disease and plastic bronchitis who presented for lymphatic imaging and intervention...
March 22, 2016: Circulation
Nataliya Tkachenko, Kanwaljit Singh, Nicolas Abreu, Anne Marie Morse, Christy Day, Kathyrn Fitzgerald, Mikhail Kazachkov, Sanjeev Kothare
BACKGROUND: Children with medical complexity have a high prevalence of sleep disorders. However, outpatient polysomnography to evaluate for these conditions may be difficult to perform because of lack of skilled nursing care. The aim of this study was to explore polysomnography indications in hospitalized children and assess its impact on patient care. METHODS: Data from 85 inpatient polysomnographies of 70 children hospitalized between March and December 2014 were retrospectively collected...
April 2016: Pediatric Neurology
Martino Ruggieri, Andrea D Praticò
Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumours] and the central and peripheral nervous system [with congenital abnormalities and/or tumours]. In a number of such disorders, the skin abnormalities can assume a mosaic patterning (usually arranged in archetypical patterns). Alternating segments of affected and unaffected skin or segmentally arranged patterns of abnormal skin often mirror similar phenomena occurring in extra-cutaneous organs/tissues [eg, eye, bone, heart/vessels, lung, kidney and gut]...
December 2015: Seminars in Pediatric Neurology
Donatella Peca, Renato Cutrera, Andrea Masotti, Renata Boldrini, Olivier Danhaive
Genetic disorders of the surfactant system are rare diseases with a broad range of clinical manifestations, from fatal respiratory distress syndrome (RDS) in neonates to chronic interstitial lung disease (ILD) in children and adults. ABCA3 [ATP-binding cassette (ABC), subfamily A, member 3] is a lung-specific phospholipid transporter critical for intracellular surfactant synthesis and storage in lamellar bodies (LBs). Its expression is developmentally regulated, peaking prior to birth under the influence of steroids and transcription factors...
October 2015: Biochemical Society Transactions
Patrizia Dello Russo, Alessandra Franzoni, Federica Baldan, Cinzia Puppin, Giovanna De Maglio, Carla Pittini, Luigi Cattarossi, Stefano Pizzolitto, Giuseppe Damante
BACKGROUND: Pulmonary capillary hemangiomatosis (PCH) is an uncommon pulmonary disorder, with variable clinical features depending on which lung structure is affected, and it is usually linked to pulmonary arterial hypertension. Congenital PCH has been very rarely described and, so far, the only causative gene identified is EIF2AK4, which encodes for a translation initiation factor. However, not all PCH cases might carry a mutation in this gene. CASE PRESENTATION: We report the clinical and cytogenetic characterization of a patient (male, newborn, first child of healthy non-consanguineous parents) died after three days of life with severe neonatal pulmonary hypertension, due to diffuse capillary hemangiomatosis diagnosed post mortem...
2015: BMC Medical Genetics
S G Suvorov, A U Lekmanov, A I Yaroshetskiy, D N Protsenko, B R Gelfand
UNLABELLED: Purpose of this part of the "RuVent" research is to study the real use of the various modes and parameters of prolonged respiratory support in children in Russia. MATERIALS AND METHODS: The study included 104 children from 29 ICUs (28 in Russian Federation, 1 in Ukraine) under the age of 15 years with ALV duration more than 12 hours in the period from February 7 to 11, 2011. The collection of information performed through online forms. RESULTS: Total lethality was 20...
March 2015: Anesteziologiia i Reanimatologiia
Shuichiro Fujinaga, Taichi Hara
BACKGROUND: Plastic bronchitis is a rare but life-threatening disorder and is usually associated with congenital heart disease or pulmonary disease. CASE CHARACTERISTICS: A 5-year-old boy with minimal change nephrotic syndrome who developed a relapse along with cough, fever and dyspnea. OBSERVATION: Chest X-ray showed atelectasis of right upper lobe of lung, and nasal swab was positive for influenza B virus. His respiratory condition worsened, and required ventilation; bronchoscopy revealed bronchial casts...
June 2015: Indian Pediatrics
Avinash V Dharmadhikari, Przemyslaw Szafranski, Vladimir V Kalinichenko, Pawel Stankiewicz
The FOXF1 (Forkhead box F1) gene, located on chromosome 16q24.1 encodes a member of the FOX family of transcription factors characterized by a distinct forkhead DNA binding domain. FOXF1 plays an important role in epithelium-mesenchyme signaling, as a downstream target of Sonic hedgehog pathway. Heterozygous point mutations and genomic deletions involving FOXF1 have been reported in newborns with a lethal lung developmental disorder, Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV)...
April 2015: Current Genomics
Hanane Bouchghoul, Marie-Victoire Senat, Laurent Storme, Pascal de Lagausie, Laetitia Begue, Naziha Khen-Dunlop, Jean Bouyer, Alexandra Benachi
OBJECTIVE: The objective of the investigation was to study the relationship between gestational age at diagnosis and mortality and morbidity in fetuses with an isolated congenital diaphragmatic hernia. STUDY DESIGN: Between January 2008 and November 2013, 377 live births with isolated congenital diaphragmatic hernia diagnosed antenatally at a known gestational age were recorded in the database of the French National Center for Rare Diseases. The primary outcome studied was mortality estimated at 28 days and at 6 months...
October 2015: American Journal of Obstetrics and Gynecology
Zakia A Abdelhamed, Subaashini Natarajan, Gabrielle Wheway, Christopher F Inglehearn, Carmel Toomes, Colin A Johnson, Daniel J Jagger
Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3) cause a range of human ciliopathies, including Meckel-Gruber and Joubert syndromes. In this study we describe multi-organ developmental abnormalities in the Tmem67(tm1Dgen/H1) knockout mouse that closely resemble those seen in Wnt5a and Ror2 knockout mice. These include pulmonary hypoplasia, ventricular septal defects, shortening of the body longitudinal axis, limb abnormalities, and cochlear hair cell stereociliary bundle orientation and basal body/kinocilium positioning defects...
June 2015: Disease Models & Mechanisms
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