Characteristics of Patients With Alpha-1 Antitrypsin Deficiency From Rural Appalachia: A Retrospective Single-Center Study.

Alpha-1 antitrypsin (AAT) deficiency, an autosomal co-dominant inherited condition, significantly impacts lung and liver functions, with mutations in the SERPINA1 gene, notably the Z allele, playing a pivotal role in disease susceptibility. This retrospective descriptive study from a rural Eastern Kentucky pulmonary clinic aimed to characterize patients with AAT deficiency, focusing on demographic, clinical, and laboratory parameters extracted from electronic health records (EHR) of Appalachian Regional Healthcare (ARH). Among 100 patient encounters, 56 were analyzed, revealing notable sex-based differences in smoking rates and co-existing conditions, with males showing higher rates of black lung and chronic obstructive pulmonary disease. In comparison, females exhibited higher rates of asthma, COVID-19, pneumothorax, and obstructive sleep apnea. The study emphasizes the importance of understanding genotype-phenotype correlations and demographic factors in assessing AAT deficiency, advocating for further research to refine management strategies and elucidate causal relationships.

Respiratory maze: An anatomical variant of tracheal bronchus.

This case highlights an uncommon anatomical variation in the airway known as Tracheal bronchus, which can sometimes lead to recurrent pneumonia. It is crucial to exercise caution during intubation in patients with this condition.

Beware of the Acute Respiratory Distress Syndrome in a Pulmonary Blastomycosis!

Blastomyces dermatitidis is a dimorphic fungus that can range from mild to severe disease presentation, including the acute respiratory distress syndrome (ARDS) based on the individual's immunity. Acute respiratory distress syndrome is an uncommon presentation having an incidence of about 10% to 15% but has a high mortality exceeding 90%. This is a case of a 50-year-old female with past medical history of asthma and type 2 diabetes mellitus who presented to the pulmonology clinic with worsening dyspnea for the last 2 months. She also had a lesion in the left lower back, which was draining purulent fluid. Chest radiographs showed bilateral infiltrates and was started empirically on vancomycin and piperacillin-tazobactam. Bronchoalveolar lavage was done and the cultures grew B dermatitidis. The patient was moved to a higher level of care and given amphotericin B. Unfortunately, the patient experienced septic shock, which later deteriorated into cardiac arrest, ultimately leading to their passing. The importance of early diagnosis of blastomycosis and timely treatment has been emphasized in this case report.

Subcutaneous Sarcoidosis.

This case report focuses on a 40-year-old female with multiple subcutaneous skin nodules presenting to the clinic for worsening skin lesions associated with erythema and mild tenderness. A biopsy of the skin lesions showed non-necrotizing granulomas with multinucleated giant cells. The patient was being worked up for non-necrotizing granulomatous skin lesions and was diagnosed with subcutaneous sarcoidosis. Sarcoidosis diagnosis is based on clinical presentation, histopathological changes, and ruling out other granulomatous causes. Our patient is being treated with systemic steroids, hydroxychloroquine, methotrexate, and adalimumab. The patient is nine months into the treatment. A clinically significant reduction in the nodule size was noted. Other systemic involvement of sarcoid was ruled out. This subcutaneous skin involvement is a rare finding called the Darier-Roussy sarcoid. Usually self-resolving but extensive, deformative lesions need to be treated.

Gilchrist's Hollow Lung.

Blastomycosis is an endemic mycosis in certain parts of North America. The dimorphic fungus can manifest with both pulmonary and extrapulmonary features. We present the case of a 24-year-old African American male with a history of vaping and daily marijuana who presented with hemoptysis and a cough of one-week duration. He was initially treated as community-acquired pneumonia (CAP). The patient had a bronchoscopy with bronchoalveolar lavage (BAL) done in the posterior segment of the right upper lobe. Cultures grew methicillin-resistant Staphylococcus aureus (MRSA), followed by Blastomyces dermatitidis in the histopathologic examination. Chronic pulmonary blastomycosis may present with hemoptysis, weight loss, chronic cough, and night sweats, along with upper lobe predominant cavitation. We have to exclude tuberculosis (TB), lung cancer, and chronic pulmonary histoplasmosis. This case epitomizes many classic perils in the identification of pulmonary blastomycosis. The patient was being treated with itraconazole 200 mg BID for 12 months as per infectious disease suggestion. The patient is nine months into treatment. At six months, his chest computed tomography (CT) revealed a reduction in size from 5.0 × 5.3 cm to 4.2 × 4.0 cm. Although there are no articles supporting increased secondary bacterial infections with underlying fungal infections, more research needs to be done to find any associated features.

COVID-19-Related Left-Sided Ptosis.

The coronavirus disease 2019 (COVID-19) infection commonly presents with symptoms of fever, cough, and anosmia. However, there have been case reports of unusual symptoms associated with COVID-19. We encountered one such case where a 55-year-old male who tested positive for COVID-19 was noted to have, along with cough and vomiting, a new onset of left eyelid ptosis. COVID-19 infection and ptosis association is seldom seen and very few similar studies are reported.

A Case Series of Spontaneous Pneumomediastinum With/Without Pneumothorax in COVID-19.

With the previous worldwide initial coronavirus disease 2019 (COVID-19) pandemic, a notable rise in spontaneous pneumomediastinum with/without pneumothorax (SPP) has been noted. Most cases were initially reported as complications secondary to barotrauma from mechanical ventilation (MV) with COVID-19. However, with the Delta strain, starting from December 2020, there have been multiple reports of SPP. The SPP is an uncommon complication outside use of assisted ventilation with either noninvasive positive pressure ventilation (NIPPV) or MV. COVID-19 has been linked to higher incidence of SPP without use of NIPPV or MV. We present a series of 5 cases with a polymerase chain reaction-confirmed COVID-19 diagnostic testing whose hospital course was complicated by SPP unrelated to the use of either NIPPV or MV.

COVID-19 and Cavitary Lesion in Lung.

The clinical manifestations of coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) are widespread, ranging from asymptomatic to critical illness with significant morbidity and mortality. It is widely known that individuals who have viral respiratory infections are more likely to develop bacterial infections. Throughout the pandemic, despite the fact that COVID-19 was thought to be the primary cause of millions of deaths, bacterial coinfections, superinfections, and other secondary complications played a significant role in the increased mortality rate. In our case, a 76-year-old male presented to the hospital complaining of shortness of air. Polymerase chain reaction (PCR) testing was positive for COVID-19 and cavitary lesions were discovered on imaging. Treatment was guided based on the results of bronchoscopy with bronchoalveolar lavage (BAL) cultures showing methicillin-resistant Staphylococcus aureus (MRSA) and Mycobacterium gordonae. However, the case was later complicated by the development of a pulmonary embolism after anticoagulants were held due to new onset hemoptysis. Our case highlights the importance of considering bacterial coinfection in cavitary lung lesions, appropriate antimicrobial stewardship, and close follow-up for full recovery in COVID-19 infections.

Hepatic Chylothorax: An Uncommon Pleural Effusion.

An 83-year-old male with chronic obstructive pulmonary disease and liver cirrhosis presented with confusion and dyspnea. On chest X-ray, he had the right mid to lower lung zone white out. Ultrasound-guided thoracentesis drained 1.5 L of milky white pleural fluid which was transudative according to chemical analysis. Transudative chylothorax in liver cirrhosis without ascites is rare, but can happen. When the flow of ascitic chylous fluid into the pleural space equals the rate of ascites production, clinical absence of detectable ascites will occur. Hepatic chylothorax is important and should be kept in differentials when evaluating patients with liver cirrhosis.

Liver Metastasis From Intracranial Hemangiopericytoma 8 Years After Initial Resection: Case Report.

Solitary fibrous tumor/hemangiopericytoma (SFT/HPC) is a rare intracranial tumor that arises from pericytes surrounding the blood vessels. Solitary fibrous tumor/hemangiopericytoma accounts for less than 1% of primary brain tumors and is classified as grades I, II, or III based on mitotic count. These tumors often masquerade as meningiomas. Histologically, SFT/HPC is vascular with high cellularity and often surrounded by connective tissue. Immunohistochemistry is positive for stat 6, vimentin, and CD34. Although aggressive surgical resection is the mainstay of treatment, close long-term follow-up is necessary as recurrence or extra cranial metastasis can present several years after resection.

Mycoplasma pneumoniae COVID-19 Delta Variant Co-Infection Mimicking COVID-19 ARDS.

The Delta variant of COVID-19 has been associated with severe disease causing a surge in the second half of 2021. Atypical pathogens can be present in those in particular with severe ARDS and can contribute to excess morbidity and mortality. We must maintain a high level of suspicion for these pathogens as this can present an opportunity to dramatically improve the prognosis of a patient with COVID-19 ARDS. However, lend caution to Mycoplasma IgM serology as this can be a false-positive. If suspicion remains high for Mycoplasma pneumoniae infection, sputum polymerase chain reaction (PCR) for M pneumoniae is the gold standard for diagnosis. We present the case of a 42-year-old female with COVID-19 Delta variant presumed ARDS who had co-infection with M pneumoniae confirmed by endotracheal sputum aspirate PCR with rapidly improving oxygenation and extubation within 4 days of effective antibiotic therapy.

Incidental and Asymptomatic Splenic Infarction and Infrarenal Thrombus in a COVID-19 Patient.

The cytokine storm associated with coronavirus disease 2019 (COVID-19) triggers a hypercoagulable state leading to venous and arterial thromboembolism. Lab findings associated with this phenomenon are elevated D-dimer, fibrinogen, C-reactive protein (CRP), ferritin, and procalcitonin. We present the case of a 66-year-old male with dyslipidemia who was diagnosed with COVID-19 with worsening shortness of breath, myalgia, and loss of taste. Physical examination was remarkable for crackles with diminished lung sounds and use of his accessory muscles. Labs showed normal white blood cell count, D-dimer of 1.42 mg/L, ferritin of 961 ng/mL, lactate dehydrogenase (LDH) of 621 U/L, and CRP of 2.1 mg/dL. Chest X-ray showed atypical pneumonitis with patchy abnormalities. He required oxygen supplementation with fraction of inspired oxygen of 100% proning as tolerated. He received remdesivir, ceftriaxone, azithromycin, dexamethasone, prophylactic enoxaparin, and a unit of plasma therapy. His D-dimer had increased from 1.65 to 3.51 mg/L with worsening dyspnea. At this time, computed tomography angiogram (CTA) of the chest showed extensive ground-glass opacities and a 2.4 × 1.9 × 1.3 cm distal thoracic aortic intraluminal thrombus. He was started on a heparin drip. A follow-up CTA of the aorta showed thrombus or hypoattenuation within the splenic artery and wedge-shaped areas extending from the hilum with possible infarction and a 6 mm thrombus in the infrarenal abdominal aorta. He was transitioned to enoxaparin 1 mg/kg twice daily. He remained asymptomatic from his splenic infarction. This case adds more insight to splenic infarction associated with COVID-19 in addition to the 32 reported cases documented thus far. Management of thromboembolism includes a therapeutic dose of anticoagulation. To prevent thromboembolism, prophylactic anticoagulation is recommended for those hospitalized with COVID-19.

Secondary Extramedullary Myeloma of the Gallbladder: A Case Report.

Extramedullary myeloma (EMM) is an infrequent but well-established manifestation of multiple myeloma (MM), defined as a soft tissue plasma cell neoplasm without bone marrow involvement. Gallbladder involvement in EMM, however, is a very rare occurrence, with only 8 cases found in the English medical literature. Here, we present a case of an older adult male with a gallbladder mass in the presence of increasing serum kappa light chains after a normal bone marrow biopsy confirmed the complete remission of a previous MM diagnosis. Histopathologic evaluation of a biopsied sample confirmed the mass as an atypical plasma cell neoplasm. Later in his treatment, he developed several firm, smooth, violaceous skin nodules on the torso, which histopathology confirmed as also being atypical plasma cell neoplasms. We aim to contribute to the medical literature by expanding the pool of information regarding EMM of the gallbladder to support future diagnostic and treatment recommendations.

Acute Spinal Cord Ischemia Associated With Cocaine Use: A Case Report.

Cocaine is one of the most common causes of acute drug-related emergency department visits in the United States. It produces a dose-dependent increase in heart rate and blood pressure accompanied by increased arousal and a sense of self-confidence, euphoria, and well-being. Its use is typically followed by a craving for more of the drug. It can also lead to acute events such as myocardial infarction, seizures, and cerebrovascular events. Here, we present a case of cocaine-induced spinal cord ischemia resulting in quadriplegia. Our case highlights that, in a young patient presenting with acute non-traumatic myelopathy, it is important to consider cocaine use among other differentials.

Hepatitis B Virus Reactivation Following Treatment of HNSCC With Cisplatin.

Hepatitis B Virus (HBV) reactivation is a known complication of intense immunosuppression with B-cell depleting monoclonal antibody therapy and transplantation immunosuppression. HBV reactivation has occurred following treatment with chemotherapy regimens for hematologic malignancies and solid tumors. There are 2 prior case reports of HBV reactivation following cisplatin monotherapy for head and neck squamous cell carcinoma (HNSCC). Here, we present a case of a 49-year-old Caucasian male with a past medical history of laryngeal squamous cell carcinoma (SCC). There are no consensus guidelines on how to define hepatitis B reactivation. There are guidelines on when to initiate prophylaxis with Entecavir while on immunosuppressive therapy with risk according to medication category and hepatitis B surface antigen/hepatitis B core antibody IgG serology. CDC recommends screening everyone. American Society of Clinical Oncology (ASCO) now with a recent update in 2020 recommends screening everyone. There is a definite role of immunosuppression in HBV reactivation, however, there is also direct enhancement by cisplatin of viral replication by creating endoplasmic reticulum stress which increases HBV DNA indirectly. Finally, cytotoxicity enhances HBV reactivation and immune reconstitution post withdrawing immunosuppressive treatment. Because of the effects of chemotherapy, aka cisplatin goes beyond immunosuppression-related reactivation of HBV, our recommendations are in line with CDC and ASCO to screen all patients for HBV before onset of chemotherapy and start Entecavir/Tenofovir Disoproxil Fumarate before the onset of chemotherapy for HBV-positive patients.

COVID-19 Infection and Late Manifestation of Pulmonary Aspergillosis.

We present the case of a 56-year-old woman who was diagnosed with severe coronavirus disease 2019 (COVID-19) pneumonia complicated by severe acute respiratory distress syndrome who was intubated for 19 days. She recovered from COVID-19 after a month. A computed tomography (CT) scan of the chest, after a month, showed improved infiltrates with a small residual cavity within the lingula. A CT angiogram showed a more confluent density in the lingular portion on follow-up 2 months later. She developed intermittent hemoptysis after 3 months in December 2020, which persisted for almost 6 months, and CT of the chest showed the lingular nodular with resolution of the cavitation. She underwent bronchoscopy with bronchoalveolar lavage, confirming Aspergillus fumigatus by galactomannan assay and histology showing branching hyphae. Once she started treatment with itraconazole, her hemoptysis resolved. The follow-up CT of the chest after 2 months of treatment did not show a cavity or a nodule in the lingula. Our patient developed invasive pulmonary aspergillosis (IPA) as a sequela of severe COVID-19 infection. COVID-19-associated invasive pulmonary aspergillosis (CAPA) is an underrecognized complication that needs to be investigated on whether prophylactic treatment is required. Our case also demonstrates that the diagnosis of IPA needs to be considered months after COVID-19 infection when a superimposed fungal infection can occur after a viral infection if the patient continues to have persistent symptoms.

Colorectal Adenocarcinoma Metastasis to the Hard Palate: An Uncommon Site of Metastasis for a Common Malignancy.

Colorectal adenocarcinoma (CRC) most commonly metastasizes to the peritoneum, liver, lung, and bone. Metastasis to the oral cavity is uncommon. Here, we report the case of a 74-year-old man who presented with a few months of chewing and swallowing difficulty, shoulder pain, and weight loss of 30 pounds. On oral exam, he was noted to have a 5 cm fixed hard palate mass. Primary hard palate malignancy was initially suspected. Biopsy of the mass confirmed adenocarcinoma with an immunohistochemical pattern suggestive of colorectal origin. He was later found to have extensive skeletal metastasis. Palliative radiotherapy to the hard palate region was initiated, followed by palliative systemic chemotherapy. We have found only three other published cases of rectal adenocarcinoma with hard palate metastasis.

Refractory Torsades de Pointes Due to Dofetilide Overdose.

Dofetilide, a class III antiarrhythmic, is widely used in the treatment of cardiac arrhythmias. Antiarrhythmic drugs can have a long duration of action that prolongs the QT interval. This causes bradycardia that predisposes to R-on-T phenomenon subsequently leading to torsades de pointes (TdP). This necessitates constant monitoring to prevent or treat ventricular arrhythmias or bradycardia associated with cardiac medications. Although extremely rare, dofetilide overdose has been described in the literature. However, no evidence found in the current literature required prolonged intervention after the initial acute stabilization, leading to scarcity of data for treatment of ongoing dofetilide overdose. We present the case of an intentional dofetilide overdose in a 61-year-old Caucasian woman with a history of congestive heart failure, atrial fibrillation, stage IIIb chronic kidney disease, diabetes mellitus type II, hypothyroidism, morbid obesity, and hypertension that required extensive interventions for refractory TdP that lasted 4 days. Therapeutic as well as excess dosage of dofetilide can lead to TdP, which is usually controlled by decreasing the dose or terminating drug administration. If the arrhythmia is not resolved, guidelines recommend management with activated charcoal if ingestion is within 15 minutes, followed by administration of 2 g IV (intravenous) magnesium and addressing the electrolyte imbalance. However, if the arrhythmia is persistent due to ongoing dofetilide toxicity, isoproterenol is given as a bridge to overdrive pacing and dopamine is used as an alternative to isoproterenol.

Immunotherapy: A Case Series.

Immunotherapy is on the rise as a treatment option for advanced melanoma, non-small cell lung carcinoma, renal cell carcinoma, and melanoma among others. It consists of two main classes being cytotoxic T lymphocyte antigen 4 (CTLA 4) inhibitors and programmed cell death 1 (PD 1) inhibitors. We report a case series of four patients who were started on either pembrolizumab or nivolumab for the treatment of melanoma or lung cancer. While on immunotherapy, they developed various side effects related to the immunotherapy including pneumonitis, transaminitis, thyroiditis, nephritis, and hypophysitis. To treat this complication, immunotherapy must be discontinued or held with immunosuppressant initiation as treatment. Most often the immunosuppressant of choice is steroids. After symptoms improve, patients can decide along with the clinician on restarting or completely stopping immunotherapy. Within our case series, three of four patients had resolutions of their symptoms with steroid treatment with one who was lost to follow up. Of the three patients who were being followed up, one had a relapse of side effects after resuming immunotherapy and decided against further treatment with immunotherapy. Another patient is doing well resuming immunotherapy on a daily dose of steroids. The last patient decided to not continue with immunotherapy after experiencing a flare of his symptoms when he was being treated since he missed a few doses of steroids. Further research is needed about the risk of flares of complications when resuming immunotherapy alone or with immunotherapy and steroid treatment.

COVID-19 Vaccine Acceptance Among Rural Appalachian Healthcare Workers (Eastern Kentucky/West Virginia): A Cross-Sectional Study.

Introduction The success of a vaccination program is dependent on vaccine efficacy and the number of people vaccinated. Healthcare workers are the first to receive the COVID-19 vaccine based on CDC phase 1a recommendations and are a point of contact for information for patients, so they must be well-educated on common misconceptions about the vaccine. Objective To identify acceptance/refusal rates of COVID-19 vaccine, reasons for refusal, and to understand the impact of demographics, work environment, and comorbidities on vaccine acceptance. Methods A cross-sectional study of 1076 healthcare employees in Rural Appalachian utilizing electronic and paper-based 12 question surveys from December 10, 2020, through December 20, 2020, followed up to April 2021. Results Within our study, 52.3% of our healthcare workers would accept vaccination with higher age, male gender, physicians, and those who receive annual flu vaccines more likely to accept vaccination. The most common reason for refusal was unknown side effects (88.5%). The second reason for refusal at 33.5% was waiting for someone else to take the vaccine first. In February 2021, the percentage of our healthcare workers who were vaccinated was 48%, which then increased to 55% in March 2021. By April 2021, the vaccination percentage of our healthcare workers reached 59%. Conclusions In order to predict how the public percentage of vaccination would be, healthcare workers need to address concerns about side effects from the vaccines and encourage the public to get the vaccines since healthcare workers themselves had already received the vaccines and can educate the patients on how they did after getting the shots.