rare pulmonary

Granulomatosis with polyangiitis (GPA) is a rare vasculitis that can pose a significant mortality risk given its multiorgan involvement and is the most common of the three anti-neutrophil cytoplasmic antibodies (ANCA)-associated vasculitides. Cardinal pathological features include necrotizing granulomas of the respiratory tract, small and medium vessel vasculitis, and glomerulonephritis. Early treatment is imperative to reduce permanent organ damage such as end-stage kidney disease. We describe the first case of GPA relapse 38 years after the initial pulmonary presentation...

BACKGROUND: Bronchial arterial embolization (BAE) has been accepted as an effective treatment for bronchiectasis-related hemoptysis. However, rare clinical trials compare different sizes of specific embolic agents. This study aims to evaluate whether different Embosphere microsphere sizes change the outcome of BAE. METHODS: A retrospective review was conducted on consecutive patients with bronchiectatic hemoptysis who were scheduled to undergo BAE treatment during a period from January 2018 to December 2022...

Left ventricular noncompaction (LVNC) is a rare genetic and congenital disorder characterized by the excessive formation of blood-filled trabeculae and intertrabecular recesses in the uncompressed inner endocardial wall associated with a thin, compact wall, the mesocardium. Although LVNC was described for the first time as long ago as 1984, our understanding of the disease with regard to its genetic pattern, diagnosis, clinical presentation, and treatment is still scanty. LVNC can be present as an isolated condition or associated with congenital heart disease, genetic syndromes, or neuromuscular disease...

BACKGROUND: Vascular complications (VC) associated with Extracorporeal Membrane Oxygenation (ECMO) during index hospitalization are prevalent and associated with increased mortality. Few studies have evaluated late VC following ECMO; this study aims to assess occurrence and management practices of late VC following discharge. METHODS: A retrospective single-institution review was performed of all patients surviving initial hospitalization after being cannulated for central or peripheral veno-venous (VV) or veno-arterial (VA) ECMO between January 1st 2019 and December 31st 2020...

Adenoid cystic carcinoma (ACC) is a rare malignant epithelial neoplasm that arises in secretory glands and commonly metastasizes to the lungs. MYBL1 is frequently overexpressed in ACC and has been suggested to be a driver of the disease. Here, we identified a circRNA derived from MYBL1 pre-mRNA that accompanied overexpression of MYBL1 in ACC. Overexpression of circMYBL1 was correlated with increased lung metastasis and poor overall survival in ACC patients. Ectopic circMYBL1 overexpression promoted malignant phenotypes and lung metastasis of ACC cells...

BACKGROUND: Tumor embolism is a very rare primary manifestation of cancers and the diagnosis is challenging, especially if located in the pulmonary arteries, where it can mimic nonmalignant pulmonary embolism. Intimal sarcoma is one of the least commonly reported primary tumors of vessels with only a few cases reported worldwide. A typical location of this malignancy is the pulmonary artery. Herein, we present a case report of an intimal sarcoma with primary manifestation in the pulmonary arteries...

Circumflex aortic arch with coarctation and anomalous origin of the left pulmonary artery from the aorta are rare cardiovascular anomalies. These conditions can lead to early pulmonary hypertension and challenging management. Early diagnosis and surgical intervention are beneficial for optimal outcome. We present a case where both anomalies coexisted and were repaired with aortic uncrossing, arch augmentation, and reimplantation of the left pulmonary artery. To our knowledge, this is the first documented instance of these anomalies coexisting and being repaired in the neonatal period...

Introduction: [177 Lu]Lutetium (Lu)-oxodotreotide is a radiopharmaceutical drug used as peptide receptor radionuclide therapy (PRRT) for somatostatin receptor-expressing neuroendocrine neoplasms. It provides an additional effective alternative treatment for these rare cancers. Although well tolerated, its safety profile must continue to be characterized to support its use as a first-line treatment or for additional cycles. This study aims to evaluate factors associated with the occurrence of [177 Lu]Lu-oxodotreotide induced short-term toxicity...

Diffuse cystic lung disease (DCLD) represents a heterogeneous group of conditions, typically characterized by the presence of multiple thin-walled, predominantly round parenchymal lucencies. The increased accessibility of computed tomography (CT) underscores the growing relevance of a relatively rare group of diseases as more clinicians are confronted with the presence of multiple lung cysts on the chest CT scan. Although the etiology of these conditions is very diverse, the focus of the differential diagnosis revolves around four primary causative factors - Lymphangioleiomyomatosis (LAM), Pulmonary Langerhanscell histiocytosis (PLCH), Birt-Hogg-Dubé (BHD) and lymphoid interstitial pneumonia (LIP)...

Heritable pulmonary arterial hypertension (HPAH) is a rare progressive condition that includes patients with an identified genetic cause of pulmonary arterial hypertension (PAH). HPAH and idiopathic PAH (IPAH) have an estimated combined incidence of 0.5-0.9 cases per million children-years. Several pathogenic variants have been associated with HPAH in children and adults, including genes BMPR2 , TBX4 , and  ACVRL1 , and more rarely with variants in genes such as SOX17 . HPAH is often difficult to manage and has poor prognosis despite advances in medical therapy with many patients progressing to lung transplantation, right heart failure and death...

Schistosomiasis is a parasitic disease caused by trematodes (body flukes), affecting millions worldwide. However, its pulmonary manifestations are rare. We report a rare case of a 51-year-old People Living with HIV male, managed in a tertiary care hospital in west India in May 2023, vegetable vendor who was admitted with complaints of dysphagia, odynophagia, fever and chest pain for 3 days, cough and breathlessness for 1 month. Chest x-ray and CT scan were suggestive of hypodense fluid collection with rim enhancement along right lateral and posterior aspect of thoracic esophagus...

Pulmonary tumor thrombotic microangiopathy (PTTM) is a very rare condition that can lead to acute severe pulmonary hypertension and circulatory failure. It is caused by tumor cell microvascular obstruction and is usually difficult to diagnose; in fact, it is often diagnosed after death. We report the case of a patient who experienced a sudden cardiac arrest and developed severe pulmonary hypertension two days after receiving the coronavirus disease (COVID-19) vaccine. The patient was initially diagnosed with vaccine-associated myocarditis, and venoarterial extracorporeal membrane oxygenation (VA-ECMO) implantation with median sternotomy was performed...

A rare human pathogen,  Serratia fonticola ( S. fonticola )   has previously been found to cause skin and soft tissue infections post-trauma. The literature contains limited information regarding its management or sensitivity patterns. We aim to share our findings on S. fonticola infections in an area with a high rate of antibiotic resistance. To draw attention to this uncommon and rare infection, we share a case series of S. fonticola . The antibiogram revealed that S. fonticola in all our cases was multidrug resistant...

ANTXR1 is one of two cell surface receptors mediating the uptake of the anthrax toxin into cells. Despite substantial research on its role in anthrax poisoning and a proposed function as a collagen receptor, ANTXR1's physiological functions remain largely undefined. Pathogenic variants in ANTXR1 lead to the rare GAPO syndrome, named for its four primary features: Growth retardation, Alopecia, Pseudoanodontia, and Optic atrophy. The disease is also associated with a complex range of other phenotypes impacting the cardiovascular, skeletal, pulmonary and nervous systems...

BACKGROUND: The illnesses associated with changes in barometric pressure can be classified into three types: acute mountain sickness, high-altitude pulmonary edema (HAPE), and high-altitude cerebral edema. HAPE is a rare form of pulmonary edema that occurs in susceptible individuals after arriving at altitudes over 2500 m above sea level (m). Only a few studies have reported classical HAPE among children with underlying cardiopulmonary comorbidities. In this study, we report two pediatric cases of classical HAPE that occurred immediately upon arriving at Abha city (with an average elevation of 2270 m above sea level)...

BACKGROUND: Aortic regurgitation (AR) associated with detachment of the aortic valve commissure is extremely rare. We present a case of progressively worsening severe chronic AR due to detachment of the aortic valve commissure during hospitalization that was confirmed with multimodality imaging. CASE SUMMARY: A 50-year-old male with Marfan syndrome visited our hospital to receive treatment for cholelithiasis. Pre-operative examination revealed severe AR and aortic root aneurysm...

Pulmonary sarcomatoid carcinoma (PSC) represents a rare and highly aggressive variant of lung cancer, characterized by its recalcitrance to conventional therapeutic modalities and the attendant dismal prognosis it confers. Recent breakthroughs in immunotherapy have presented novel prospects for PSC patients; nevertheless, the utility of neoadjuvant/conversional immunotherapy in the context of PSC remains ambiguous. In this report, we present a middle-aged male presenting with Stage III PSC, notable for its high expression of the programmed death-ligand 1 (PD-L1), initially deemed as non-resectable for sizeable tumor mass and multiple lymph nodes metastases...

Bupropion is an atypical antidepressant prescribed for depression and attention-deficit/hyperactivity disorder and to aid in smoking cessation. Bupropion overdose management is largely aimed toward common sequelae, including seizures, tachycardia, and QTc prolongation. In this case report, we identify a rare event of pediatric bupropion overdose with aforementioned common sequela and atypical features, including a delayed presentation of serotonin syndrome and non-cardiogenic pulmonary edema. This case follows a seven-year-old Caucasian female with autism spectrum disorder (ASD) who presented in status epilepticus following an accidental bupropion overdose and required multiple anti-seizure medications, endotracheal intubation, and admission to the pediatric intensive care unit (PICU)...

Tension pneumomediastinum with hemodynamic failure is a rare but life-threatening condition. Rapid decompression of the mediastinum by drainage is essential to save the patient's life. This report presents a case of tension pneumomediastinum that developed during conservative management of a pneumomediastinum associated with idiopathic pulmonary fibrosis. Endoscopically guided mediastinal drainage was successfully performed in the emergency situation of tension pneumomediastinum. Using the semi-flexible fiberscope inserted through a subxiphoid approach, the drainage catheter was easily and safely placed at the appropriate site in the mediastinum...

BACKGROUND: To present an unusual case of abnormal LCA expression and CD43 in SCLC and to review the reported literature to avoid potential diagnostic pitfalls. CASE PRESENTATION: A 73-year-old male patient suffered from persistent back pain for more than one month. MRI revealed a compression fracture of the L1-L5 vertebra. A CT scan revealed multiple nodules and masses at the left root of the neck, lung hilum and mediastinum, and multiple areas of bony destruction of the ribs...