Fatty images of the heart: spectrum of normal and pathological findings at computed tomography and cardiac magnetic resonance imaging. [PDF]
Ectopic cardiac fatty images are not rarely detected incidentally at computed tomography and cardiac magnetic resonance, either in exams focused on the heart as in general thoracic imaging evaluations.
Cannavale, Giuseppe+6 more
core +3 more sources
Multicystic Interstitial Lung Disease Due to a Novel Biallelic C‐C Chemokine Receptor Type 2 Variant
ABSTRACT Objective We are presenting two individuals with biallelic C‐C chemokine receptor type 2 (CCR2) deficiency carrying the novel c.644C>T p.L215P variant, who presented with chronic respiratory symptoms during infancy and developed multiple diffuse cystic lesions during childhood.
Moritz Herkner+16 more
wiley +1 more source
BackgroundThe goal of this study was to analyze serum from lymphangioleiomyomatosis (LAM) patients and healthy controls to identify novel biomarkers that could shed light on disease diagnosis and pathogenesis.MethodsFrom April 2017 to October 2019 ...
Xuefei Liu+16 more
doaj +1 more source
Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care. [PDF]
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem genetic disorder characterized by benign tumors in multiple organs, including the skin, brain, kidneys, and lungs and occasional malignant tumors.
Adriaensen+32 more
core +5 more sources
An entity that poses continuous challenge despite treatment attempt: lymphangioleiomyomatosis
In May of 2016, a 37-years-old Hispanic female, with no significant past medical history was brought to our hospital with right-sided chest pain. Chest X ray revealed large right pneumothorax (A) and she underwent chest tube placement.
Munish Sharma, Salim Surani
doaj +1 more source
Management of everolimus-associated adverse events in patients with tuberous sclerosis complex: a practical guide [PDF]
Tuberous sclerosis complex (TSC) is a genetic disorder characterised by highly variable comorbid dysfunction and subsequent morbidity. The mTOR inhibitor everolimus is indicated for the treatment of adult TSC patients with renal angiomyolipomas (AMLs ...
Davies, Mark+2 more
core +2 more sources
Lymphangioleiomyomatosis in Korea. [PDF]
연구배경 : 폐 림프관평활근종증은 주로 가임연령의 여성에 발생하는 매우 드문 질환으로 치료에도 불구하고 점차 진행하여 호흡부전에 이르는 무서운 질형이다. 그러나 이 질환의 임상경과는 아직 정확하게 알려져 있지 않고 20여년전부터 항에스트로젠제재가 치료에 사용되고 있으나 그 효과에 대해서도 논란이 있는 실정이다. 저자들이 경험한 4례의 폐 림프관평활근종증 증례를 보고하고 극내 폐 림프관평활근종증의 임상적 고찰을 하여 폐 림프관평활근종증에 대한 이해를 돕고자 본 연구를 시행하였다. 방법 : 국내 림프관평활근종증 12례중 199년 2월 일본 교또에서 열린 림프관평활근조증 심포지움에서 국내 증례의 임상적, 방사선학적, 병리학적 소견에
Young Soo Shim+10 more
openaire +2 more sources
A Diagnostic Mimic of Lung Cancer: Nodular Pulmonary Amyloidosis Presenting With Cystic Changes
A 62‐year‐old man with coal workers' pneumoconiosis and a heavy smoking history presented with progressive respiratory symptoms and cystic lung lesions. Surgical biopsy revealed localised AL (kappa) nodular pulmonary amyloidosis, highlighting the need to consider amyloidosis in the differential diagnosis of cystic lung disease with indeterminate ...
Supriya Peshin+6 more
wiley +1 more source
Use of variability in national and regional data to estimate the prevalence of lymphangioleiomyomatosis [PDF]
Background: Understanding the true prevalence of lymphangioleiomyomatosis (LAM) is important in estimating disease burden and targeting specific interventions.
Byrnes, S.+11 more
core
Estradiol and mTORC2 cooperate to enhance prostaglandin biosynthesis and tumorigenesis in TSC2-deficient LAM cells [PDF]
Lymphangioleiomyomatosis (LAM) is a progressive neoplastic disorder that leads to lung destruction and respiratory failure primarily in women. LAM is typically caused by tuberous sclerosis complex 2 (TSC2) mutations resulting in mTORC1 activation in ...
Auricchio, Neil+21 more
core +1 more source