Augmentation Therapy for Severe Alpha-1 Antitrypsin Deficiency Improves Survival and Is Decoupled from Spirometric Decline-A Multinational Registry Analysis.

Rationale: Intravenous plasma-purified alpha-1 antitrypsin (IV-AAT) has been used as therapy for alpha-1 antitrypsin deficiency (AATD) since 1987. Previous trials (RAPID and RAPID-OLE) demonstrated efficacy in preserving computed tomography of lung density but no effect on FEV1. This observational study evaluated 615 people with severe AATD from three countries with socialized health care (Ireland, Switzerland, and Austria), where access to standard medical care was equal but access to IV-AAT was not. Objectives: To assess the real-world longitudinal effects of IV-AAT. Methods: Pulmonary function and mortality data were utilized to perform longitudinal analyses on registry participants with severe AATD. Measurements and Main Results: IV-AAT confers a survival benefit in severe AATD (P < 0.001). We uncovered two distinct AATD phenotypes based on an initial respiratory diagnosis: lung index and non-lung index. Lung indexes demonstrated a more rapid FEV1 decline between the ages of 20 and 50 and subsequently entered a plateau phase of minimal decline from 50 onward. Consequentially, IV-AAT had no effect on FEV1 decline, except in patients with a Global Initiative for Chronic Obstructive Lung Disease (GOLD) stage 2 lung index. Conclusions: This real-world study demonstrates a survival advantage from IV-AAT. This improved survival is largely decoupled from FEV1 decline. The observation that patients with severe AATD fall into two major phenotypes has implications for clinical trial design where FEV1 is a primary endpoint. Recruits into trials are typically older lung indexes entering the plateau phase and, therefore, unlikely to show spirometric benefits. IV-AAT attenuates spirometric decline in lung indexes in GOLD stage 2, a spirometric group commonly outside current IV-AAT commencement recommendations.

Radiographic Absence of the Left Humeral Head.

An older patient with history of surgical decompression for syringomyelia, poor mobility, and frequent falls presented with pain, numbness, and paresthesias in his left upper extremity. Radiograph showed complete absence of the left humeral head. What is the diagnosis, and what would you do next?

Concentric and Eccentric Target MRI Signs in a Case of HIV-Associated Cerebral Toxoplasmosis.

Cerebral toxoplasmosis is one of the most common causes of focal brain lesions in immunocompromised patients, such as those with human immunodeficiency virus (HIV). Differentiating toxoplasmosis from other central nervous system (CNS) lesions provides a significant clinical challenge. Magnetic resonance (MR) imaging of the brain is key to prompt diagnosis and treatment of cerebral toxoplasmosis. Several specific signs on MRI of brain have been described in recent literature including the "concentric target sign" and "eccentric target sign." We report a case of successfully treated HIV-associated cerebral toxoplasmosis in which both MRI signs were present simultaneously.

Direct Common Carotid Artery Puncture for Endovascular Treatment of Acute Large Vessel Ischemic Stroke in a Patient with Aortic Coarctation.

Coarctation of the aorta is a condition that typically presents in childhood as a congenital malformation. This report describes a case of acute right middle cerebral artery ischemic stroke, which occurred in a patient with aortic coarctation that remained undiagnosed until her eighth decade. Complex anatomical variant presented a significant technical challenge in establishing endovascular access for mechanical thrombectomy using standard femoral, brachial, or radial artery approaches. Direct right common carotid puncture was performed successfully with subsequent reperfusion and full neurological recovery. Direct carotid artery puncture represents an alternative to standard transfemoral access in the event of stroke in a patient with difficult anatomy.