Novel Molecular and Phenotypic Insights into Congenital Lung Malformations
نویسندگان
چکیده
منابع مشابه
Asymptomatic congenital lung malformations.
Congenital lung malformations are often discovered incidentally on routine prenatal sonography or postnatal imaging. Lesions such as congenital cystic adenomatoid malformations (CCAM), sequestrations, bronchogenic cysts and congenital lobar emphysema may be asymptomatic at birth or at the time of discovery later in life. Some authors advocate simple observation because of the lack of data on th...
متن کاملCongenital lung malformations.
Congenital lung malformations are rare and vary widely in their clinical presentation and severity, depending mostly on the degree of lung involvement and their location in the thoracic cavity. They can manifest at any age and can be the source of significant morbidity and mortality in infants and children. Individuals with congenital lung malformations can present with respiratory symptoms at ...
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BACKGROUND Heterozygous loss-of-function mutations in the X-linked CASK gene cause progressive microcephaly with pontine and cerebellar hypoplasia (MICPCH) and severe intellectual disability (ID) in females. Different CASK mutations have also been reported in males. The associated phenotypes range from nonsyndromic ID to Ohtahara syndrome with cerebellar hypoplasia. However, the phenotypic spec...
متن کاملCongenital Lung Malformations, Update and Treatment
There is a broad spectrum of bronchopulmonary malformations which present in early infancy and childhood. These include Bronchogenic cysts, Bronchopulmonary sequestrations, congenital cystic adenomatoid malformation (CCAM), and congenital lobar emphysema. These lesions maybe detected by prenatal diagnosis, present as acute respiratory distress in the newborn period, or may remain undiagnosed an...
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Thrombocytopenia, defined as a platelet count less than 150,000 ml , is a common problem in clinical hematology. In most patients, the cause is secondary to an acquired autoimmune disorder, a systemic illness or infection, or an adverse drug effect. Inherited thrombocytopenias are relatively rare, but the identification of genetic mutations in patients with these disorders has contributed signi...
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ژورنال
عنوان ژورنال: American Journal of Respiratory and Critical Care Medicine
سال: 2018
ISSN: 1073-449X,1535-4970
DOI: 10.1164/rccm.201706-1243oc