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.

Wave-Based Outcomes Comparison of Hospitalized COVID-19 Patients: A Retrospective Multicenter Cohort Study From Rural Appalachia.

BACKGROUND: There has been little to no characterization of the pandemic's effects on rural Central Appalachia, in which health disparities in the pre-COVID-19 era have historically plagued. This is the first study to compare wave-based differences in outcomes of hospitalized patients with COVID-19 in the rural Appalachian region. This study aims to provide a more comprehensive understanding of the effects of the COVID-19 pandemic on large rural communities and Appalachia. METHODS: This is a retrospective cohort study of hospitalized patients with COVID-19 between April 2020 and June 2022, which includes 13 Appalachian Regional Healthcare (ARH) hospitals. The primary outcome of the study was in-hospital mortality. Secondary outcomes included intensive care unit (ICU) stay, need for mechanical ventilation, length of hospital stay, 1-30-day re-admittance, 30-60-day re-admittance, and thromboembolism incidence risk. RESULTS: The second wave of infections during the pandemic demonstrated the highest mortality with higher odds of affecting younger patients. The third wave demonstrated similar mortality to the first wave. Elderly patients and patients with chronic morbidities demonstrated the highest mortality and morbidity and the highest requirement for mechanical ventilation across the three waves. Vaccination lowered the odds of mechanical ventilation and ICU stay. CONCLUSIONS: This study comprehensively characterizes the impact of the COVID-19 pandemic in rural regions of Appalachian Kentucky and West Virginia. Future studies comparing differences between rural and urban geographies may be able to distinguish whether the disparities in these regions played a role in the impact on residents.

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.

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.

Chylothorax in the Setting of Lung Malignancy.

Chylothorax refers to chyle within the pleural space, which frequently arises from an interruption in the thoracic duct or because of reduced lymphatic drainage. Pleural fluid that is white/milky in appearance, with a triglyceride concentration of greater than 110 mg/dL, strongly supports the diagnosis of chylothorax. Chylothorax is nearly always exudative. Transudative chylothorax is extremely rare and typically presents due to a secondary cause, such as liver cirrhosis, nephrotic syndrome, or congestive heart failure. We present a case of chylothorax that occurs in the setting of lung adenocarcinoma. A 65-year-old African American man with a past medical history of metastatic right lung adenocarcinoma presented with dyspnea and palpitations. He denied fever, orthopnea, and paroxysmal nocturnal dyspnea. Therapeutic drainage of the left pleural effusion resulted in 650 mL of milky-white fluid. Pleural fluid analysis demonstrated a triglyceride concentration of 520 mg/dL, a pleural/serum protein ratio of 0.41, a pleural/serum lactate dehydrogenase (LDH) ratio of 0.26, a total pleural LDH of 127 IU/L, and a cholesterol level of 58 mg/dL. This effusion can be classified as transudative as per Light's criteria and exudative as per Heffner's and pleural cholesterol criteria. A subsequent pleural fluid cytology found malignant cells consistent with lung adenocarcinoma. Malignancy is the most common cause of nontraumatic, exudative chylothorax. Light's criteria misinterpret about 25% of transudative effusions as exudative. Therefore, to minimize this error, a combination of the 3-criterial consideration is ideal.

Surveillance of Isolated Colonic Langerhans Cell Histiocytosis in an Adult: A Case Report.

Langerhans cell histiocytosis (LCH) is a rare disorder involving the proliferation of myeloid-derived dendritic cells. It most commonly affects children aged less than 1 to 2 years old. Langerhans cell histiocytosis in adults is more uncommon with an estimated incidence of 1 to 2 cases per 1 million. Langerhans cell histiocytosis can present as a multisystem or single-system disease involving bone, skin, lymph nodes, and various other organ systems. The spectrum of symptoms can range from asymptomatic disease, localized skeletal or dermatologic manifestations, or systemic symptoms of weight loss, fever, and other organ-specific manifestations. Langerhans cell histiocytosis with isolated involvement of the gastrointestinal tract is exceedingly rare with only approximately 14 cases reported in the English medical literature. Here, we report an additional case of LCH presenting as an isolated colonic polyp. This patient was also followed for a 3-year period after initial diagnosis to provide valuable follow-up data. With this case, we aim to contribute to the literature by further characterizing the presentation, treatment, and disease course of this rare phenomenon and provide valuable data to guide future screening guidelines for isolated LCH polyps in the colon.

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.

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.

Predictors of Mortality for Patients with COVID-19 in the Rural Appalachian Region.

BACKGROUND: The prevalence and outcome of coronavirus disease 2019 (COVID-19) in rural areas is unknown. METHODS: This is a multi-center retrospective cohort study of hospitalized patients diagnosed with COVID-19 from April 5, 2020 to December 31, 2020. The data were extracted from 13 facilities in the Appalachian Regional Healthcare system that share the same electronic health record using ICD-10-CM codes. RESULTS: The number of patients diagnosed with COVID-19 per facility ranged from 5 to 535 with a median of 106 patients. Total mortality was 11.4% and ranged from 0% to 22.6% by facility (median: 9.0%). Non-survivors had a greater prevalence of congestive heart failure (CHF), hypertension, type 2 diabetes mellitus, stroke, transient ischemic attack (TIA), and pulmonary embolism. Patients who died were also more likely to have had chronic obstructive pulmonary disease (COPD), acute respiratory failure (ARF), liver cirrhosis, chronic kidney disease (CKD), dementia, cancer, anemia, and opiate dependence. CONCLUSION: The aging population, multiple co-morbidities, and health-related behaviors make rural patients vulnerable to COVID-19. A better understanding of the disease in rural areas is crucial, given its heightened vulnerability to adverse outcomes.

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.