Pulmonary arteriovenous malformations (PAVM) are congenital vascular communications in the lungs. They act as right to left shunts so that the blood running through these malformations is not oxygenated or filtered. These patients are typically hypoxaemic with exercise intolerance and are at high risk of paradoxical emboli to the brain and other organs. These malformations are most commonly see...

A maximum tolerated dose (15 mug/g) of the carcinogen 4-nitroquinoline 1-oxide (4NQO) induced neither fetal deaths nor malformations when given to pregnant ICR/Jcl mice at the sensitive stages (Days 9 to 11) for the induction of malformations, although these embryotoxicities were detected with urethan and X-ray. This may not be due to the lack of teratogenic actions of 4NQO, but to the difficul...

BACKGROUND Congenital rib abnormalities are found in approximately 2% of the general population. Usually, they occur in isolation, when they are rarely symptomatic, but they can also associate with other malformations. MATERIALS AND METHODS We reviewed imaging examinations performed over a period of two years (2014-2015), enabling us to identify isolated rib abnormalities in six adult patient...

BACKGROUND Pulmonary arteriovenous malformations (PAVMs) are present in approximately 15-50% individuals with hereditary hemorrhagic telangiectasia (HHT). They may be isolated but more often are multiple. The goal of this study was to evaluate the influence of PAVMs on lung mechanical properties. METHODS We reviewed the files of all adult patients (age ≥ 18 years) referred to our Center for e...

Hereditary hemorrhagic telangiectasia is an uncommon autosomal dominant disease that occurs in approximately one in 5,000 to 8,000 persons. This multisystem disorder can affect the nose, skin, gastrointestinal tract, lungs, liver, and brain. Epistaxis is the most common presenting problem, occurring in 90 percent of affected patients. Approximately 15 to 30 percent of patients with hereditary h...

The pulmonary sequestration spectrum and related congenital lung anomalies present an extremely complex and varied group of bronchopulmonary-vascular malformations. Previous attempts at nomenclature and classification have proved inadequate. In this article we present a classification of the newly named pulmonary malinosculation spectrum, which includes all congenital lung anomalies where there...

Yin Yang 1 (YY1) is a multifunctional zinc-finger-containing transcription factor that plays crucial roles in numerous biological processes by selectively activating or repressing transcription, depending upon promoter contextual differences and specific protein interactions. In mice, Yy1 null mutants die early in gestation whereas Yy1 hypomorphs die at birth from lung defects. We studied how t...

blue rubber bleb nevus syndrome is a rare disorder that is characterized by multiple recurrent vascular malformations of skin and gastrointestinal tract . the affected patients may present with diverse manifestations including iron deficiency anemia. we report this syndrome in a 22-year-old man that was referred to our hospital for iron deficiency anemia with unknown cause and vascular malforma...