Objective Blocking interleukin-1 with anakinra in patients with the autoinflammatory syndrome neonatal-onset multisystem inflammatory disease (NOMID) reduces systemic and organ-specific inflammation. However, the impact of long-term treatment has not been established. This study was undertaken to evaluate the long-term effect of anakinra on clinical and laboratory outcomes and safety in patients with NOMID. Methods We conducted a cohort study of 26 NOMID patients ages 0.80–42.17 years who were followed up at the NIH and treated with anakinra 1–5 mg/kg/day for at least 36 months. Disease activity was assessed using daily diaries, questionnaires, and C-reactive protein level. Central nervous system (CNS) inflammation, hearing, vision, and safety were evaluated. Results Sustained improvements in diary scores, parent’s/patient’s and physician’s global scores of disease activity, parent’s/patient’s pain scores, and inflammatory markers were observed (all P < 0.001 at 36 and 60 months). At 36 and 60 months, CNS inflammation was suppressed, with decreased cerebrospinal fluid white blood cell counts (P = 0.0026 and P = 0.0076, respectively), albumin levels, and opening pressures (P = 0.0012 and P < 0.001, respectively). Most patients showed stable or improved hearing. Cochlear enhancement on magnetic resonance imaging correlated with continued hearing loss. Visual acuity and peripheral vision were stable. Low optic nerve size correlated with poor visual field. Bony lesions progressed. Adverse events other than viral infections were rare, and all patients continued to receive the medication. Conclusion These findings indicate that anakinra provides sustained efficacy in the treatment of NOMID for up to 5 years, with the requirement of dose escalation. Damage progression in the CNS, ear, and eye, but not bone, is preventable. Anakinra is well tolerated overall.

Swimming-induced pulmonary edema (SIPE) is a noncardiogenic form of acute pulmonary edema infrequently described in the general military literature. Its pathophysiology is poorly understood. Treatment is supportive. Knowledge of SIPE is important for the military physician and should remain a top differential for any patient presenting with acute pulmonary edema following a water sport. This is the case of a patient with SIPE occurring during the swim portion of a Half Ironman Triathlon.

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INTRODUCTION: Pulmonary arteriovenous malformations (PAVMs) are rare vascular abnormalities in which arterioles connect directly to venules without passing through a capillary bed. Up to 95% of all PAVMs are associated with hereditary hemorrhagic telangiectasia (HHT). HHT is an autosomal dominant disease characterized by AVMs most notably affecting the pulmonary, hepatic, and cerebral circulations. Idiopathic PAVMs have a greater propensity to present as solitary malformations. We present the case of a patient with six incidentally discovered PAVMs. Further evaluation, including genetic testing not consistent with HHT, made this an unusual case of multiple presumed idiopathic PAVMs. CASE PRESENTATION:A 34-year-old female with a history of recent left ankle fracture was referred to the pulmonary clinic after an emergency department evaluation revealed six PAVMs on CT pulmonary angiogram following the diagnosis of a left lower extremity deep vein thrombosis. The largest PAVM (2.4 cm) was located in the right upper lobe and was classified as complex, having multiple segmental feeding arteries with a dominant draining vein. The remaining five were classified as simple AVMs, having a single feeding artery and draining vein. She endorsed a history of epistaxis, family history of stroke, and persistent borderline hypoxemia. An anatomic shunt study was performed with arterial blood gas measurements on room air and while breathing 100% oxygen with a calculated shunt fraction of 28%. Transthoracic echocardiogram showed normal pulmonary and central venous pressures. MRI brain revealed multiple punctate foci of enhancement most consistent with small vascular malformations. She underwent genetic testing for HHT (including ACVRL1, ENG, EPHB4, GDF2, RASA1, and SMAD4 genes) which was negative. The patient was referred to Interventional Radiology for coil embolization of the two largest PAVMs given her clinically significant right-to-left shunt.DISCUSSION: PAVMs cause impairment in gas exchange, filtration, and processing of systemic venous blood with a spectrum of clinical manifestations including life-threatening hemorrhage and paradoxical embolism. Although PAVMs are commonly asymptomatic, their unique complications include hypoxemia, dyspnea, hemoptysis, pulmonary hypertension, brain abscess, seizure, and stroke. There is evidence to suggest that idiopathic PAVMs act similarly to HHT-related PAVMs with comparable symptoms and plausible clinical complications.CONCLUSIONS: Clinical presentation may vary widely, however, PAVMs are important to recognize and evaluate for need for intervention, even if asymptomatic, given their potential for serious sequelae if left untreated.

INTRODUCTION: Chronic cough in adults is defined by cough lasting for at least eight weeks in duration. It remains one of the most common symptoms encountered in ambulatory care, largely attributed to Upper Airway Cough Syndrome (UACS), Asthma, Non-asthmatic Eosinophilic Bronchitis (NAEB), or Gastroesophageal Reflux Disease (GERD). Other less common etiologies shouldn't be overlooked, such as those disorders which stimulate cough receptors. These receptors are located throughout the body including the gastrointestinal tract; irritation of any of these can trigger the vagal-mediated afferent limb of the cough reflex arc. We present the case of a patient with gastric cancer with an initial complaint of three months of cough with associated dyspnea. CASE PRESENTATION:A 33-year-old male with a medical history of obstructive sleep apnea, prior tobacco use, and GERD presented with a three month history of dry cough, fatigue, and dyspnea. Previous primary care visits were conducted via telehealth amid the COVID-19 pandemic, where he was empirically treated with therapies for UACS, asthma, and reflux disease without improvement. His physical exam and chest radiograph were unremarkable. Pulmonary function tests were not obtained secondary to profound coughing with forced exhalation maneuvers. On further questioning, he endorsed early satiety, 10-pound weight loss, and a family history of stomach cancer. CT of the chest demonstrated questionable gastric thickening, retroperitoneal lymphadenopathy surrounding the mesenteric root, a nine millimeter lytic lucency along the right periphery of the 11th thoracic vertebral body, and subtle diffuse peripheral tree-in-bud pulmonary opacities. Bronchoscopy with lavage, brushings, and endobronchial biopsies were negative for infection, granulomas, or malignancy. Upper endoscopy revealed a laterally spreading lesion with central ulceration in the gastric cardia, with biopsy consistent with poorly differentiated gastric adenocarcinoma. Stage IV disease was confirmed by retroperitoneal lymph node sampling.DISCUSSION: Gastric cancer represents 1.4% of all new cancer cases annually in the U.S., most frequently in the sixth decade of life in those with multiple risk factors. Our patient presented nearly three decades earlier with a chronic cough which is exceedingly rare. Plausible risk factors for our patient include male sex, Hispanic ethnicity, obesity, prior tobacco use, and familial predisposition. Early symptoms are equivocal but usually include abdominal pain and weight loss. Respiratory symptoms generally portend late-stage metastasis to the lungs or pulmonary embolism, which our patient did not exhibit. CONCLUSIONS: While UACS, Asthma, NAEB, and GERD remain the most conceivable etiologies of chronic cough, fully investigating all red flag symptoms during patient encounters, with consideration of uncommon causes, endure as foundational tenets of chronic cough evaluation.

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