Ethical, legal, and social implications of incorporating genomic information into electronic health records.

The inclusion of genomic data in the electronic health record raises important ethical, legal, and social issues. In this article, we highlight these challenges and discuss potential solutions. We provide a brief background on the current state of electronic health records in the context of genomic medicine, discuss the importance of equitable access to genome-enabled electronic health records, and consider the potential use of electronic health records for improving genomic literacy in patients and providers. We highlight the importance of privacy, access, and security, and of determining which genomic information is included in the electronic health record. Finally, we discuss the challenges of reporting incidental findings, storing and reinterpreting genomic data, and nondocumentation and duty to warn family members at potential genetic risk.

Hypoglycemia Induced by Zinc Supplementation for COVID-19 Prophylaxis: A Case Series.

There has been significant research and therapeutic activity within the healthcare sector in response to the coronavirus disease 2019 (COVID-19). In the United States, a complementary and alternative medicine (CAM) treatment regimen for improving patients' immune systems against COVID-19 prophylaxis includes excess zinc, vitamin C, and vitamin D supplementation administered over a seven-day period. Despite the fact that zinc and other mineral supplements are becoming increasingly popular in Western culture, clinical research on CAM remains limited. This case series examines three patients treated with a surplus of zinc tablets for COVID-19 prophylaxis who presented with moderate-to-severe hypoglycemia. Varying amounts of glucose were administered to these patients to offset their low blood sugar levels. Medical staff noted a positive Whipple's triad in two of the patients but observed no other abnormalities in the laboratory values. All three patients were instructed to cease zinc tablet intake upon discharge. Our findings raise awareness of the potential dangers associated with mineral supplements and serve as a warning for those seeking CAM treatment options.

Teleoncology: Novel Approaches for Improving Cancer Care in North America.

Due to widespread healthcare workforce shortages, many patients living in remote and rural North America currently have reduced access to various medical specialists. These shortages, coupled with the aging North American population, highlight the need to transform contemporary healthcare delivery systems. The exchange of medical information via telecommunication technology, known as telemedicine, offers promising solutions to address the medical needs of an aging population and the increased demand for specialty medical services. This progressive movement has also improved access to quality health care by mitigating the current shortage of trained subspecialists. Minimizing the effects of these shortages is particularly urgent in the care of cancer patients, many of whom require regular follow-up and close monitoring. Cancer patients living in remote areas of North America have reduced access to specialized care and, thus, have unacceptably high mortality and morbidity rates. Teleoncology, or the use of telemedicine to provide oncology services remotely, has the ability to improve access to high-quality care and assist in alleviating the burden of some of the severe adverse events associated with cancer. In this review, the authors describe how recent advances in teleoncology can reduce healthcare disparities and improve future cancer care in North America.

Challenges to establishing nationwide diabetic retinopathy screening programs.

PURPOSE OF REVIEW: To review the results of recently published studies on diabetic retinopathy screening. RECENT FINDINGS: Despite numerous public health campaigns and the existence of guidelines designed to promote annual retinal exams for diabetes patients, an unacceptably high number of patients are not screened for diabetic retinopathy. Current findings suggest the need for novel methods to improve compliance with retinal screening exams among diabetes patients to preserve vision functionality in this population. SUMMARY: Diabetic retinopathy represents a major cause of acquired vision loss. The following review addresses the factors that contribute to inadequate retinopathy screenings among diabetes patients and proposes solutions that have the potential to increase the quality and accessibility of screening programs for diabetes patients.

Is there a color line in death? An examination of end-of-life care in the African American community.

Although the goals of end-of-life care and hospice are to mitigate suffering and improve quality of life for patients with terminal illnesses, they remain underutilized by a significant number of African Americans. While sociocultural issues play a role in the underutilization of these resources among African Americans, other confounding factors affect the ability of African Americans to adequately access quality care at the end of life. Here, the authors examine the various barriers preventing increased use of hospice care and palliative therapy among African Americans. A particular focus of this examination will revolve around suggestions for increasing the use of end-of-life care among African Americans in the future.

Teleoncology: current and future applications for improving cancer care globally.

Access to quality cancer care is often unavailable in low-income and middle-income countries, and also in rural or remote areas of high-income countries. Teleoncology-oncology applications of medical telecommunications, including pathology, radiology, and other related disciplines-has the potential to enhance access to and quality of clinical cancer care, and to improve education and training. Implementation of teleoncology in the developing world requires an approach tailored to priorities, resources, and needs. Teleoncology can best achieve its proposed goals through consistent and long-term application. We review teleoncology initiatives that have the potential to decrease cancer-care inequality between resource-poor and resource-rich institutions and offer guidelines for the development of teleoncology programmes in low-income and middle-income countries.

Second malignancies in patients with Ewing Sarcoma Family of Tumors: A population-based study.

BACKGROUND: Despite significant improvement in the outcome of patients with Ewing Sarcoma Family of Tumors (ESFT), second malignancies remain a problem that may compromise the outcome of some survivors. The Surveillance, Epidemiology and End-Results (SEER) database offers an opportunity to study second malignancies in a population-based cohort of patients. METHODS: Cancer incidence rates were compared between the ESFT survivors and the general population using observed-to-expected ratios (O/E). Also, we studied the characteristics of patients with ESFT who developed second malignancies and compared them to those who did not. RESULTS: We studied 1,166 patients with ESFT who were diagnosed from January 1973 to December 2005. Among them, 35 (3%) patients had records of second malignancy. Patients who received radiotherapy as part of their primary therapy had a higher chance of developing a second malignancy (odds ratio, 2.55; 95% CI, 1.09 to 6.00). Most solid tumors (78%) were diagnosed more than 5 years after diagnosis of ESFT while the majority (83%) of lymphatic/hematopoietic malignancies developed within five years of diagnosis. The 5-, 10-, and 20-year probability of developing a second malignancy were 2.1% +/- 0.56%, 4.4% +/- 0.95% and 8.0% +/- 1.7%, respectively. The O/E ratio for developing a second malignancy was 4.10 (95%CI, 2.87 to 5.68) but was higher in children/adolescents (O/E, 9.94; 95%CI, 6.30 to 14.91). CONCLUSION: Having a second cancer following a diagnosis of ESFT is a known risk that may be increased by current therapies. This modest increase is justified by the benefit of these therapies in the majority of patients with ESFT.

Central toxic keratopathy.

PURPOSE OF REVIEW: To describe recent evidence from the literature regarding central toxic keratopathy syndrome (CTK). RECENT FINDINGS: CTK describes a rare, self-limited, noninflammatory postsurgical condition that presents with central corneal opacity and a significant hyperopic shift. Although its cause remains uncertain, CTK bears a striking clinical resemblance to other more serious conditions and is, therefore, often misdiagnosed and mismanaged. Despite its noninflammatory nature, the overlapping clinical features CTK shares with other inflammatory and infectious processes have led some to treat CTK with steroids. Recent studies discourage the use of steroids in CTK and recommend allowing the condition to resolve on its own. SUMMARY: Although CTK resembles other inflammatory conditions that are responsive to steroids, current studies suggest that steroid administration is contraindicated in CTK and can exacerbate preexisting refractive alterations in patients with the condition.

Apneic disorders associated with heart failure: pathophysiology and clinical management.

Cardiovascular diseases remain the most common cause of both morbidity and mortality in the industrialized world. The frequency of sleep-related breathing disorders (SRBD) is significantly increased in individuals with cardiovascular diseases such as heart failure. Given the co-morbidities associated with SRBD coexisting with HF, prompt recognition and early management of SRBD is critical to improving the overall prognosis and quality of life in heart failure patients with concomitant SRBD.

Enucleation for retinoblastoma: the experience of a single center in Jordan.

Despite multiple advances in the management of retinoblastoma, enucleation remains an essential therapeutic modality. We studied patients who underwent enucleation at the King Hussein Cancer Center in Jordan. We retrospectively reviewed medical records of children with retinoblastoma who were treated at our center from June 2002 to February 2008. Twenty-eight eyes from 27 patients were enucleated. Median age at diagnosis was 1.1 years (range, 0.3-6.3 years). Twenty-six eyes (93%) had advanced disease (RE groups IV and V). Seventeen patients (61%) had unilateral retinoblastoma, and 11 (39%) had bilateral retinoblastoma. The median time from diagnosis to enucleation was 0.45 months (range, 0-45 months; mean, 4.4 months) and was longer for patients with bilateral retinoblastoma (median, 2.2 vs. 0.2 months; P = 0.034). Twenty enucleated eyes (71%) did not show high-risk pathologic features. Seventeen eyes with advanced intraocular disease were enucleated at the time of presentation, whereas chemoreduction was attempted for the other 19 eyes with advanced intraocular disease. Enucleation was then recommended for nine (47%) of those eyes. Enucleation at the time of diagnosis was feasible for most patients with advanced disease. Attempted salvage of eyes with advanced disease is justified, particularly in patients with bilateral disease. We were able to salvage almost half of these eyes. We hope our study provides new insights for counseling patients.

Agrypnia excitata: current concepts and future prospects in management.

Agrypnia excitata is an extremely rare, life-threatening syndrome characterized by autonomic activation, persistent insomnia, and generalized overactivity. Agrypnia excitata describes a triad of three separate conditions: delirium tremens, Morvan's chorea, and familial fatal insomnia (FFI). Each of the aforementioned three conditions have sleep disturbances as a unifying theme and results in distinct neurophysiological findings. The following is an overview of agrypnia excitata with a particular emphasis placed upon each of the three individual conditions that constitute the syndrome with recommendations on appropriate management.

Ocular ischemic syndrome: recent trends in medical management.

PURPOSE OF REVIEW: To summarize general concepts of ocular ischemic syndrome (OIS), and present current scientific developments in delineating the pathogenesis and treatment of this disorder. RECENT FINDINGS: Recent studies suggest that OIS is associated with a significant risk of cerebrovascular, ocular, and systemic morbidity. SUMMARY: OIS is a serious blinding condition that occurs in the setting of carotid artery occlusion. Restoration of arterial perfusion and early diagnosis are critical for preserving visual function and reducing the risk of devastating ocular complications.

Neuromyelitis optica: current concepts and prospects for future management.

PURPOSE OF REVIEW: To present an overview on the clinical manifestations and an update on the current management of neuromyelitis optica (NMO). RECENT FINDINGS: NMO is associated with a significant risk of neurological, ocular and systemic morbidity. Many cases of NMO assume a relapsing course, which can lead clinicians to mistake the disease for multiple sclerosis. Distinguishing between the two diseases can be accomplished by recognizing the differences in clinical manifestations, observing the clinical course, obtaining serological testing and appreciating the MRI features. It is also important to maintain a high index of suspicion for NMO in the appropriate clinical setting. SUMMARY: Clinical features of NMO include visual loss, decreased coordination, widespread asthenia, paraplegia, quadriplegia, and sensory impairment. Severe cases can result in bladder and bowel impairment or fatal respiratory failure. Symptomatic treatment and the currently available therapeutic agents can control the disease in many patients. However, given the lack of a curative treatment, the prognosis of NMO remains poor in some patients underscoring the need for drug development and controlled clinical trials focused on improved treatment strategies.

Medical and surgical management of facial nerve palsy.

PURPOSE OF REVIEW: To review the results of recently published studies on the medical management of Bell's palsy and highlight strategies in the surgical management of facial nerve palsy. RECENT FINDINGS: Although corticosteroid and antiviral therapy have been proposed for the treatment of Bell's palsy for many years, the clinical efficacy of these treatments has been debated in the literature due to the lack of conclusive evidence from large-scale clinical trials. However, recently completed randomized, controlled studies have found that the early administration of corticosteroids improves the chances of full recovery in patients with Bell's palsy. But there remains insufficient evidence supporting the routine use of antiviral medications in the treatment of Bell's palsy. In addition, improvement in surgical techniques has allowed the introduction of a number of surgical procedures for patients with permanent facial nerve palsy. SUMMARY: On the basis of the results of several recently completed randomized, controlled studies, corticosteroid therapy has proven to be efficacious in the treatment of Bell's palsy and should be offered to patients presenting within 72 h of symptom onset with consideration to the addition of antiviral therapy for severe cases. Currently available surgical procedures can minimize the complications associated with permanent facial nerve palsy.

Thrombolytic therapy in central retinal artery occlusion: cutting edge therapy, standard of care therapy, or impractical therapy?

PURPOSE OF REVIEW: Numerous therapeutic options have been suggested for the treatment of central retinal artery occlusion (CRAO) such as ocular massage, anterior chamber paracentesis, physical exercise, and medication-induced reduction of intraocular pressure. Because of the lack of a proven effective treatment for CRAO, there has been a strong effort to develop alternative therapies. Recently, thrombolytic therapy has been suggested as a viable therapy for CRAO. The aim of this review is to provide an update on the progress of thrombolytic therapy for CRAO. RECENT FINDINGS: Although there is no consensus on a standardized treatment regimen for CRAO, emerging evidence suggests that thrombolytic therapy may be effective if administered promptly. Despite the benefit of thrombolytic therapy, on the basis of the results of case reports and case series, randomized controlled studies are necessary to ultimately prove the effectiveness of the treatment. SUMMARY: Thrombolytic therapy has yet to be validated as an effective treatment of CRAO. The execution of randomized, controlled trials is greatly needed to establish whether thrombolytic therapy can be considered standard of care therapy for CRAO.

Ocular complications of cancer therapy: a primer for the ophthalmologist treating cancer patients.

PURPOSE OF REVIEW: Cancer patients may develop ocular complications secondary to direct or metastatic involvement with cancer, radiation exposure, or chemotherapy. As many as 1.4 million new cancer cases arise in the United States annually. RECENT FINDINGS: Chemotherapy administration remains a critical aspect of treating many cancers and offers improved prognosis and prolonged survival in many cases; however, these therapies are known to cause a wide range of toxicities. SUMMARY: Ocular side effects such as photophobia, cataracts, glaucoma, retinopathy, and other ocular toxicities have been reported following chemotherapy administration. To effectively treat cancer patients, oncologists, primary care clinicians, and ophthalmologists should be aware of the potential ophthalmic toxicities certain widely used chemotherapeutic agents and radiation therapy may pose to their patients, particularly in the setting of preexisting ocular conditions.

Ophthalmic manifestations of endocrine disorders: approaches and medical management.

PURPOSE OF REVIEW: Disorders of the endocrine system may present with various ophthalmic signs, symptoms, and pathology. Early detection, prevention, and monitoring of these manifestations can significantly benefit morbidity associated with such disease states including permanent visual dysfunction. RECENT FINDINGS: Several studies highlight the importance of early diagnosis in reducing the long-term complications associated with these endocrine conditions, although these observations are mostly based on case reports and case series. SUMMARY: This review will focus on the connection of endocrine-related disease states with the development of specific ophthalmic pathology and is geared towards the general medical practitioner. The focus of the treating physician should be on facilitating early diagnosis to prevent potentially blinding complications.

Primary open-angle glaucoma: diagnostic approaches and management.

Glaucoma represents the second most common cause of blindness in the United States affecting approximately 2 million Americans, with many others unaware of being afflicted. Primary open-angle glaucoma (POAG), which is the most common of all types of glaucoma, leads to progressive optic nerve damage. If left untreated, POAG can lead to irreversible blindness. Since POAG is a relatively asymptomatic disease, prevention of long-term complications must be accomplished with regular screening for early detection and appropriate treatment. Primary care physicians play a critical role in screening at-risk populations and, therefore, reducing the risk of visual loss that characterizes advanced stages of POAG.

Age-related macular degeneration: a guide for the primary care physician.

Age-related macular degeneration (AMD) is the leading cause of visual loss in Americans over the age of 50 years. AMD often results in profound disability due to the disease destroying the macula, the part of the retina responsible for central visual acuity and color vision. Risk factors for AMD include age greater than 50, female gender, Caucasian race, cigarette smoking, and family history of AMD. African Americans and other racial or ethnic groups can be affected by AMD. Although there is no cure for AMD, early diagnosis and treatment may slow disease progression and minimize irreversible visual dysfunction. Individuals suffering from central vision loss from AMD often retain peripheral vision. These affected individuals can benefit from low vision therapy, visual rehabilitation, or both to maintain or enhance activities of daily living.

Narcolepsy: clinical decision making for the primary care physician.

Narcolepsy is a serious neurological condition in which patients are overcome by persistent, excessive feelings of fatigue and drowsiness. In addition to chronic fatigue, patients with narcolepsy often succumb to intermittent, uncontrollable periods where they abruptly fall asleep during waking hours. In addition to episodic bouts of daytime sleeping, narcoleptics also exhibit cataplexy, sleep paralysis, and hypnagogic and hypnopompic hallucinations. Unfortunately, many individuals with narcolepsy remain undiagnosed and therefore, untreated, posing a risk to themselves and those around them. There is currently no cure for this lifelong disease. Nonetheless, narcolepsy can be effectively managed with medications, lifestyle changes, and the peripheral support of individuals such as family members, coworkers, and other casual relations.