Prospective cohort of cryobiopsy in interstitial lung diseases: a single center experience.

Rationale: Transbronchial cryobiopsy has been increasingly used to diagnose interstitial lung diseases. However, there is uncertainty regarding its accuracy and risks, mainly due to a paucity of prospective or randomized trials comparing cryobiopsy to surgical biopsy.

Objectives: To evaluate the diagnostic yield and complications of cryobiopsy in patients selected by multidisciplinary discussion.

Pazopanib for severe bleeding and transfusion-dependent anemia in hereditary hemorrhagic telangiectasia.

Hereditary hemorrhagic telangiectasia (HHT) is a rare angiogenic disorder causing chronic gastrointestinal bleeding, epistaxis, and severe anemia. Pazopanib is an oral multi-kinase angiogenesis inhibitor with promise to treat bleeding in HHT. We analyzed outcomes of HHT patients with the most severe bleeding causing RBC transfusion dependence treated on a predefined institutional pazopanib treatment pathway (with data collected retrospectively).

Sclerotherapy Versus Cautery/Laser Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia.

Objectives/hypothesis: Surgical interventions for epistaxis management in hereditary hemorrhagic telangiectasia (HHT) demonstrate short-term success and require repeated procedures for disease control. Although electrocautery and/or laser photocoagulation (C ± L) are most frequently performed, sodium tetradecyl sclerotherapy (STS) is emerging as a promising newer treatment. We hypothesized that in a 24-month time period, STS would require fewer treatments than C ± L to maintain epistaxis severity within the mild range.

An international, multicenter study of intravenous bevacizumab for bleeding in hereditary hemorrhagic telangiectasia: the InHIBIT-Bleed study.

Hereditary hemorrhagic telangiectasia (HHT, Osler-Weber-Rendu disease) is a rare multisystem vascular disorder causing chronic gastrointestinal bleeding, epistaxis, and severe anemia. Bevacizumab, an anti-vascular endothelial growth factor antibody, may be effective to treat bleeding in HHT. This international, multicenter, retrospective study evaluated the use of systemic bevacizumab to treat HHT-associated bleeding and anemia at 12 HHT treatment centers.

Performance of diagnostic criteria in patients clinically judged to have cardiac sarcoidosis: Is it time to regroup?

Background: The diagnosis of cardiac sarcoidosis (CS) is challenging. Because of the current limitations of endomyocardial biopsy as a reference standard, physicians rely on advanced cardiac imaging, multidisciplinary evaluation, and diagnostic criteria to diagnose CS.

Aims: To compare the 3 main available diagnostic criteria in patients clinically judged to have CS.

Pazopanib may reduce bleeding in hereditary hemorrhagic telangiectasia.

Pazopanib (Votrient) is an orally administered tyrosine kinase inhibitor that blocks VEGF receptors potentially serving as anti-angiogenic treatment for hereditary hemorrhagic telangiectasia (HHT). We report a prospective, multi-center, open-label, dose-escalating study [50 mg, 100 mg, 200 mg, and 400 mg], designed as a proof-of-concept study to demonstrate efficacy of pazopanib on HHT-related bleeding, and to measure safety. Patients, recruited at 5 HHT Centers, required ≥ 2 Curacao criteria AND [anemia OR severe epistaxis with iron deficiency].

Pazopanib effective for bevacizumab-unresponsive epistaxis in hereditary hemorrhagic telangiectasia.

Hereditary hemorrhagic telangiectasia (HHT) most commonly manifests with nasal mucosal telangiectasias, and vascular endothelial growth factor (VEGF) plays a significant role in this angiodysplasia. We describe a patient with HHT with epistaxis recalcitrant to several endonasal procedures and six cycles of intravenous bevacizumab, for which he was dependent on iron infusions and packed red blood cells transfusions. He then started pazopanib at 100 mg with dramatic improvements in epistaxis and normalization of hemoglobin and iron levels, without replenishment needs for 12 months.

Different efficacy of inhaled and oral medications in pulmonary hypertension.

Pulmonary arterial hypertension (PAH) is progressive disorder characterized by elevated pulmonary vascular resistance that can lead to right heart failure and death. One of the main therapeutic options for PAH are medications targeting the prostacyclin pathway. Treprostinil is a prostacyclin analogue and selexipag is a selective IP receptor agonist.

Hereditary Hemorrhagic Telangiectasia.

Hereditary hemorrhagic telangiectasia (HHT) is an underrecognized and underdiagnosed autosomal-dominant angiodysplasia that has an estimated prevalence of 1 in 5000 individuals, with variable clinical presentations even within family members with identical mutations. The most common manifestations are telangiectasias of the skin and nasal mucosa. However, HHT can often be complicated by the presence of arteriovenous malformations and telangiectasias in the lungs, brain, gastrointestinal tract, and liver that are often silent and can lead to life-threatening complications of stroke and hemorrhage.

Clinical characterization and survival of patients with borderline elevation in pulmonary artery pressure.

Normal resting mean pulmonary artery pressure (PAP) is 8-20 mmHg. Pulmonary hypertension is defined as mean PAP of ≥25 mmHg. Borderline PAP levels of 21-24 mmHg are of unclear significance.

A retrospective review of clinical features and treatment outcomes in steroid-resistant interstitial lung disease from polymyositis/dermatomyositis.

Introduction: We reviewed our experience with immunosuppressive agents in patients with steroid-resistant Interstitial Lung Disease in the setting of Polymyositis/Dermatomyositis (PM/DM-ILD) to determine whether there were major differences in outcomes.

Methods: We identified all patients treated for PM/DM-ILD and assessed cyclophosphamide (CYC), azathioprine (AZA) and mycophenolate (MMF) when used as first-line steroid sparing therapy for effects on pulmonary function variables, dyspnea and tolerance at six and twelve months.

Results: Among 46 patients meeting the inclusion criteria, 24 were treated with CYC, 13 with AZA and 9 with MMF.

Acute interstitial pneumonia (AIP): relationship to Hamman-Rich syndrome, diffuse alveolar damage (DAD), and acute respiratory distress syndrome (ARDS).

Acute interstitial pneumonia (AIP) is a term used for an idiopathic form of acute lung injury characterized clinically by acute respiratory failure with bilateral lung infiltrates and histologically by diffuse alveolar damage (DAD), a combination of findings previously known as the Hamman-Rich syndrome. This review aims to clarify the diagnostic criteria of AIP, its relationship with DAD and acute respiratory distress syndrome (ARDS), key etiologies that need to be excluded before making the diagnosis, and the salient clinical features. Cases that meet clinical and pathologic criteria for AIP overlap substantially with those that fulfill clinical criteria for ARDS.

Concomitant Castleman's disease and sarcoidosis.

Castleman's disease (CD) is an atypical lymphoproliferative disorder characterized by hyperplasia of lymphoid tissue that may develop at a single site or throughout the body. This disorder has frequently been associated with several systemic syndromes, including human immunodeficiency virus infection, polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes (POEMS) syndrome and various connective tissue diseases. However, there have been no previously reported cases of concomitant sarcoidosis and CD.

Efficacy of intravenous immunoglobulin for small fiber neuropathy associated with sarcoidosis.

Background: Small fiber neuropathy (SFN) is commonly associated with sarcoidosis and can cause significant morbidity to afflicted patients. The appropriate treatment of this condition, when associated with sarcoidosis, is not well established.

Methods: Descriptive case series of three patients with sarcoidosis and SFN.

Desquamative interstitial pneumonia as the initial manifestation of systemic sclerosis.

Interstitial lung disease (ILD) is a frequent pulmonary complication of systemic sclerosis (SSc), and nonspecific interstitial pneumonia is the most commonly recognized pattern of lung injury in these patients. In this report, we describe a never-smoker female presenting with Raynaud phenomenon and ILD that demonstrated desquamative interstitial pneumonia (DIP) on surgical lung biopsy. After 8 months, she was diagnosed with pulmonary hypertension at which time clinical examinations and serologic findings established the diagnosis of SSc.

SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia.

Juvenile polyposis syndrome (JPS) and hereditary haemorrhagic telangiectasia (HHT) are autosomal dominant disorders with characteristic clinical phenotypes. Recently, reports of the combined syndrome of JPS and HHT have been described in individuals with mutations in the SMAD4 gene, whose product-SMAD4-is a critical intracellular effector in the signalling pathway of transforming growth factor beta (TGFbeta). This report describes a 24-year-old man who presented to the Respiratory Institute after colectomy for JPS with a SMAD4 mutation and who was subsequently diagnosed to have HHT with asymptomatic cerebral and pulmonary arteriovenous malformations (AVMs).

Obstructive bronchiolar disease identified by CT in the non-transplant population: analysis of 29 consecutive cases.

Background And Objective: Obstructive bronchiolar disease or constrictive bronchiolitis, particularly in non-transplant patients, is poorly understood. This study identified the associated diseases, presenting features, and clinical course of obstructive bronchiolar disease identified by CT in the non-transplant adult population.

Methods: Retrospective single-centre study of 29 consecutive patients clinically diagnosed to have an obstructive bronchiolar disease based on the presence of respiratory symptoms and abnormal CT findings consisting of mosaic perfusion pattern with air trapping.

Causes and prognosis of diffuse alveolar damage diagnosed on surgical lung biopsy.

Background: Diffuse alveolar damage (DAD) is a relatively common histopathologic finding at autopsy, particularly in patients dying with ARDS, and can result from a variety of causes. The spectrum of causes and associated prognostic implications for DAD diagnosed by surgical lung biopsy are unclear.

Methods: We identified 58 consecutive patients with DAD diagnosed by surgical lung biopsy over a 7-year period, January 1996 through December 2002.

Interstitial lung disease in primary Sjögren syndrome.

Background: Primary Sjögren syndrome (pSS) has been associated with various histologic patterns of interstitial lung disease (ILD).

Methods: We retrospectively identified 18 patients with pSS and suspected ILD who underwent lung biopsies (14 surgical biopsies and 9 bronchoscopic biopsies) at our institution during a 13-year period from 1992 through 2004. Histopathologic findings were analyzed and correlated with radiologic features and outcome.

Microscopic polyangiitis associated with thymoma, exacerbating after thymectomy.

A variety of autoimmune diseases has been associated with thymoma, and thymectomy does not always induce remission of these disorders. This case report describes a 50-year-old man who presented with migratory polyarthritis and an anterior mediastinal mass that proved to be a thymoma. Five months after thymectomy, the patient presented with worsening polyarthritis, hematuria, and azotemia.

Nontraumatic disruption of the fibrocartilaginous trachea: causes and clinical outcomes.

Background: Nontraumatic disruption of the fibrocartilaginous trachea is rare, and the appropriate management of this condition is not well-characterized.

Methods: Retrospective analysis of the clinical features, causes, and outcomes with surgical and nonsurgical management in nine adult patients with nontraumatic fibrocartilaginous tracheal disruption identified by bronchoscopy from January 1, 1975, to December 31, 2004, at a single institution.

Results: The most common cause was external beam radiotherapy (RT) in five patients.

Diffuse alveolar damage: uncommon manifestation of pulmonary involvement in patients with connective tissue diseases.

Background: Diffuse alveolar damage (DAD) is a relatively common finding on surgical lung biopsy and can result from a variety of causes.

Methods: We studied nine consecutive patients with connective tissue disease (CTD) and DAD diagnosed on surgical lung biopsy to examine this association and clinical implications.

Results: The median age was 63 years (range, 35 to 76 years), and seven of the patients were women (78%).

Bronchogenic cyst causing atrial fibrillation by impinging the right inferior pulmonary vein.

Atrial fibrillation is the most common sustained cardiac arrhythmia and is usually associated with underlying structural heart disease, but may also occur in isolation--the entity of "lone" atrial fibrillation. Recently, attention has been directed to the pulmonary veins as a source of the arrhythmia through identification of rapidly firing ectopic foci within the covering myocardial sleeves. We describe a 38-year-old man who presented with treatment-resistant atrial fibrillation and a posterior mediastinal mass.

Effect of shifting costs to patients on specialty evaluation for sleep disorders.

Objective: To determine whether the introduction of out-of-pocket expenses to medical center employees would lead to decreased use of sleep disorder services.

Patients And Methods: We retrospectively analyzed and compared the clinical and medical accounting data from visits by Mayo Clinic employees to the Sleep Disorders Center from January 1 to March 31, 2003, with that of January 1 to March 31, 2004, le, before and after a January 2004 increase in co-payments for evaluation and testing.

Results: The total number of new patients evaluated in the first quarters of 2003 and 2004 was similar (113 vs 119; P = .