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.

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.

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.

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.

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.

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.

Outcomes of Heart Failure in COVID-19 Patients: An Appalachian Experience.

Background: The Southeastern rural areas of the USA have a higher prevalence of heart failure (HF). Coronavirus disease 2019 (COVID-19) infection is associated with poor outcomes in patients with HF. Our study aimed to compare the outcomes of hospitalized HF patients with and without COVID-19 infection specifically in rural parts of the USA.

Major Adverse Cardiac Events With Immune Checkpoint Inhibitors: A Pooled Analysis of Trials Sponsored by the National Cancer Institute-Cancer Therapy Evaluation Program.

Purpose: Major adverse cardiac events (MACEs) because of immune checkpoint inhibitors (ICIs) are infrequent immune-related adverse events (irAEs) that comprise a spectrum of cardiac toxicities with variable manifestations. ICI-related MACEs can lead to significant morbidity and mortality, hence the need to better define presentations of MACEs and their association with noncardiac irAEs in ICI-treated patients.

Methods: We conducted a retrospective pooled analysis of MACE captured in the serious adverse events reporting database of the National Cancer Institute-Cancer Therapy Evaluation Program for National Cancer Institute-sponsored investigational clinical trials between June 2015 and December 2019.

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).

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.

Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.

Heřmanský-Pudlák syndrome (HPS), a rare autosomal recessive disorder, manifests with oculocutaneous albinism and a bleeding diathesis. However, severity of disease can be variable and is typically related to the genetic subtype of HPS; HPS type 6 (HPS-6) is an uncommon subtype generally associated with mild disease. A Caucasian adult female presented with a history of severe bleeding; ophthalmologic examination indicated occult oculocutaneous albinism.

Cardiac hydatidosis presenting as an acute coronary syndrome.

A 56-year-old man presented as an acute coronary syndrome. A transthoracic echocardiography (TTE) performed to assess left ventricular (LV) function revealed multiple hydatid cysts in the right ventricular cavity compressing the interventricular septum. CT scan for chest and abdomen revealed similar cysts in right-lung apex and left lobe of liver.