Medicine and Health Sciences Commons^™

In Pursuit: A Mother’S Account Of Her Son’S Rare Disease Diagnosis Journey, Anne M. Jones

Journal of Patient-Centered Research and Reviews

A personal account from a mother’s perspective on her undiagnosed son’s medical journey over almost 6 years toward a diagnosis of a rare genetic variant in mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3) resulting in neurodevelopment disorder.

Comprehensive Review And Update Of Burning Eye Syndrome, Stephen Giacomazzi, Ivan Urits, Briggs Hoyt, Ashley Hubble, Elyse M. Cornett, Kyle Gress, Karina Charipova, Amnon A. Berger, Hisham Kassem, Alan D. Kaye, Omar Viswanath

Journal of Patient-Centered Research and Reviews

Keratoconjunctivitis sicca (“dry eye”) is a common (14%–30% of adults over age 48) though difficult to treat condition that causes both discomfort and disability with associated dryness, pain, and visual disturbances. Etiology is not clearly understood but is likely varied, with a subset of patients suffering from chronic neuropathic pain referred to as “burning eye syndrome.” This review of existing literature summarizes the clinical presentation, natural history, pathophysiology, and treatment modalities of burning eye syndrome.

Chronicity of burning eye syndrome is likely secondary to increased nociception from the cornea, decrease in inhibitory signals, and nerve growth factor expression alterations. Treatment …

Incidental Finding Of Anomalous Pulmonary Venous Return Of The Left Upper Lobe, A Rare Anatomical Variation, Anika Dutta, Loren Zuiderveld

Journal of Patient-Centered Research and Reviews

Partial anomalous pulmonary venous return (PAPVR) is a rare congenital abnormality in which 1 to 3 of the pulmonary veins connect to the right atrium rather than the left atrium. In this synthesis of the literature on PAPVR of the left upper lobe, we attempt to illustrate this clinical entity using a case detected incidentally on chest computed tomography, explain the anatomical aspects of this anomaly, and summarize the reported incidence and etiology of left-sided PAPVR. Lastly, differential diagnoses, clinical relevance, and management of left-sided PAPVR are presented. The identification of this variant is important, as it may have serious …

Supply, Demand, And Quality: A Three-Pronged Approach To Blood Product Management In Developing Countries, Kyle L. Gress, Karina Charipova, Ivan Urits, Omar Viswanath, Alan D. Kaye

Journal of Patient-Centered Research and Reviews

While transfusion of blood and blood products is instinctively linked to the provision of emergent care, blood and blood products are also routinely used for the treatment of subacute and chronic conditions. Despite the efforts of the World Health Organization and others, developing countries are faced with a three-part problem when it comes to access to and delivery of transfusions: insufficient supply, excessive demand, and inadequate quality of available supply. Developing countries rely heavily on replacement and remunerated donors rather than voluntary nonremunerated donors due to concerns regarding donation- and transfusion-transmitted infection as well as local and cultural beliefs. While …

Comprehensive Echocardiographic Findings In Critically Ill Covid-19 Patients With Or Without Prior Cardiac Disease, Renuka Jain, Pedro D. Salinas, Stacie Kroboth, Abigail Kaminski, Sarah Roemer, Ana Cristina Perez Moreno, Bijoy K Khandheria

Journal of Patient-Centered Research and Reviews

Purpose: Coronavirus disease 2019 (COVID-19) presents with a spectrum of disease severity, the most serious cases requiring intensive care. Echocardiography is a front-line tool in evaluating cardiovascular complications of COVID-19 in the intensive care unit (ICU); we analyzed transthoracic echocardiograms obtained from this patient population with state-of-the-art ultrasound technology.

Methods: All patients with COVID-19 requiring ICU admission on whom a transthoracic echocardiogram was obtained were included in the study. Focused transthoracic protocols were performed by experienced sonographers. Echocardiographic variables, including speckle-tracking echocardiography, were collected and analyzed. Clinical information was obtained from the electronic medical record. Patients were followed until discharge. …