Geisinger Lewistown Hospital

Erickson, Gregory M., Kenneth H. Olson (1996): Bite marks attributable to Tyrannosaurus rex: preliminary description and implications. Journal of Vertebrate Paleontology 16 (1): 175-178, DOI: 10.1080/02724634.1996.10011297

Background High-impact pathogenic variants in more than a thousand genes are involved in Mendelian forms of neurodevelopmental disorders (NDD). Methods This study describes the molecular and clinical characterisation of 28 probands with NDD harbouring heterozygous AGO1 coding variants, occurring de novo for all those whose transmission could have been verified (26/28). Results A total of 15 unique variants leading to amino acid changes or deletions were identified: 12 missense variants, two in-frame deletions of one codon, and one canonical splice variant leading to a deletion of two amino acid residues. Recurrently identified variants were present in several unrelated individuals: p.(Phe180del), p.(Leu190Pro), p.(Leu190Arg), p.(Gly199Ser), p.(Val254Ile) and p.(Glu376del). AGO1 encodes the Argonaute 1 protein, which functions in gene-silencing pathways mediated by small non-coding RNAs. Three-dimensional protein structure predictions suggest that these variants might alter the flexibility of the AGO1 linker domains, which likely would impair its function in mRNA processing. Affected individuals present with intellectual disability of varying severity, as well as speech and motor delay, autistic behaviour and additional behavioural manifestations. Conclusion Our study establishes that de novo coding variants in AGO1 are involved in a novel monogenic form of NDD, highly similar to the recently reported AGO2 -related NDD.

Beer potomania, a unique syndrome of hyponatremia, was first reported in 1972. It is described as the excessive intake of alcohol, particularly beer, together with poor dietary solute intake that leads to fatigue, dizziness, and muscular weakness. The low solute content of beer, and suppressive effect of alcohol on proteolysis result in reduced solute delivery to the kidney. The presence of inadequate solute in the kidney eventually causes dilutional hyponatremia secondary to reduced clearance of excess fluid from the body. Early detection of hyponatremia due to beer potomania in the hospital is necessary to carefully manage the patient in order to avoid neurological consequences as this syndrome has unique pathophysiology. We are reporting two cases, presenting to the emergency department with severe hyponatremia. After a detailed initial evaluation of the patients and labs for hyponatremia, a diagnosis of beer potomania was established in both cases. Considering the unique pathophysiology of beer potomania syndrome, the patients were closely monitored and treated appropriately to prevent any neurological sequelae.

Ferguson, Albert B. Jr.; Donaldson, William F.; Goodman, Marvin C.; Rodriguez, Ervin E.; Skovron, Michael; Gartland, John J. Author Information

Reports, studies, and surveys have demonstrated telehealth provides opportunities to make health care more efficient, better coordinated, convenient, and affordable. Telehealth can also help address health income and access disparities in underserved communities by removing location and transportation barriers, unproductive time away from work, childcare expenses, and so on. Despite evidence showing high-quality outcomes, satisfaction, and success rates (e.g., 95% patient satisfaction rate and 84% success rate in which patients were able to completely resolve their medical concerns during a telehealth visit), nationwide adoption of telehealth has been quite low due to policy and regulatory barriers, constraints, and complexities.

Background: Polycystic ovary syndrome (PCOS) is a common endocrine pathology affecting women of reproductive age characterized by chronic anovulation, hyperandrogenism, and polycystic ovaries. Coronary artery calcification (CAC) is a marker of subclinical atherosclerosis and prognostic of cardiovascular disease (CVD) risk. Some studies have shown that women with PCOS have a greater risk of CAC; however, a few others report contrary findings. The objective of this study is to examine and quantify the association between PCOS and CAC. Materials and Methods: We searched EMBASE, Google Scholar, PubMed, and Web of Science from inception to November 2021 to identify studies that provided information on PCOS and CAC. We used a random-effects model to aggregate the odds ratios (ORs) for CAC (score >0) among women with PCOS compared with controls adjusted for sociodemographic characteristics and CVD risk factors. Results: From the 36 articles reviewed, 3 prospective cohort and 4 cross-sectional studies met the inclusion criteria with a total of 2341 participants. Six studies used CAC > 0 as an outcome and were included in the pooled analysis. Using the Hartung–Knapp–Sidik–Jonkman method, the pooled adjusted ORs for the associations between PCOS and the presence of CAC were 2.48 (95% confidence interval: 2.11–2.84) with no significant heterogeneity ( I 2 = 0.10%, p = 0.97) for the cohort studies and 1.88 (0.71–3.06) with no significant heterogeneity ( I 2 = 13.95%, p = 0.87) for the cross-sectional studies. Conclusion: In pooled analyses, women with PCOS had approximately twofold greater odds of having CAC compared with women without PCOS. However, additional prospective studies will be needed to further understand the relationship between PCOS and CAC.

This review article aims to provide a comprehensive overview of recent epidemiology, pathogenesis, risk factors, and premalignant conditions of gastric cancer. Worldwide, gastric cancer is one of the most common and most fatal cancers. The incidence and mortality remain high in regions such as East Asia and Eastern Europe. Although there is a lower incidence in the United States, it remains a deadly disease. Age, gender, and race are non-modifiable demographic risk factors for developing gastric cancer. There have been several dietary and lifestyle risk factors such as salt preserved foods, N-nitroso compounds containing foods, tobacco smoke, alcohol use, and obesity that have been shown to contribute to the development of gastric cancer. Infections have additionally been shown to have a clear role in the pathogenesis of gastric cancer as Helicobacter pylori eradication has shown a significant reduction in the incidence of gastric cancer as well as other pathogens such as Epstein-Barr virus. There are certain premalignant lesions that increase the risk of developing gastric cancer. These include atrophic gastritis, and intestinal metaplasia amongst others.

Cannabis hyperemesis syndrome (CHS) is a clinical syndrome associated with prolonged and regular cannabis use. CHS is characterized by recurrent episodes of intractable nausea and vomiting. Given the overlap with other medical conditions and the frequent delay in diagnosis, finding an effective anti-emetic regimen for symptomatic control of CHS can be challenging. We report a case study where aprepitant (Emend) was successfully used as an anti-emetic in the treatment of CHS when all other common anti-emetics failed.

Community research and action projects undertaken by community-university partnerships can lead to contextually appropriate and sustainable community improvements in rural and urban localities. However, effective implementation is challenging and prone to failure when poorly executed. The current paper seeks to inform rural community-university partnership practice through consideration of first-person accounts from five stakeholders in the Rural Embedded Assistants for Community Health (REACH) Network. The REACH Network is a unique community-university partnership aimed at improving rural health services by identifying, implementing, and evaluating innovative health interventions delivered by local caregivers. The first-person accounts provide an insider's perspective on the nature of collaboration. The unique perspectives identify three critical challenges facing the REACH Network: trust, coordination, and sustainability. Through consideration of the challenges, we identified several strategies for success. We hope readers can learn their own lessons when considering the details of our partnership's efforts to improve the delivery infrastructure for rural healthcare.

Two personality inventories, measuring a total of 21 variables, were given to 546 freshman nursing students from ten hospital-based schools of nursing in the metropolitan Baltimore area. The inventories which were administered were the EPPS and the AVL. The EPPS purports to measure 15 personality variables called “needs,” while the AVL gives a measurement for each of six variables called “values.” The results of the tests were interpreted through the method of factor analysis. The 21 variables were reduced to seven factors. Each factor describes a dimension of personality which is probably involved in some way with the motivational drives which result in the choice of nursing as a career. Each of the seven factors were given a descriptive term by the investigator. They were as follows: tender-hearted; strong-willed; religious-mystic; humble-religious; dependent-achiever; intellectual-achiever; and abasive-dependent. Some of these dimensions appear to incorporate characteristics that one would consider facilitating to the nursing role. Some may lead to success more than others. Some educational implications inherent in the personality characteristics were suggested.

In Brief BACKGROUND In patients with a prior uterine septum resection, uterine rupture during pregnancy has been reported with the use of energy sources or when complicated by perforation. CASE A woman was found to have a uterine abnormality during her first pregnancy. After delivery, a septum was diagnosed and hysteroscopically incised using cold scissors without complication. Follow-up hysterosalpingogram showed a small residual septum. In her subsequent pregnancy, emergency cesarean after fetal bradycardia in early labor showed the placenta and fetus totally exteriorized through a cornua to cornua rupture of the fundus. CONCLUSION Uterine rupture during pregnancy after metroplasty is rare but may occur regardless of the method of metroplasty, absence of complications, or careful follow-up. Rupture of the uterus in early labor at term occurred in a woman with a prior uneventful hysteroscopic metroplasty.

Celiac disease is a chronic autoimmune disease with genetic predisposition, triggered by the ingestion of gluten. It has a wide range of clinical manifestations ranging from asymptomatic forms to classic presentation of malabsorption with diarrhea and abdominal cramps. Celiac disease can also present with several other concomitant disorders (at the time of diagnosis or during the course of celiac disease) such as: type 1 diabetes, inflammatory bowel disease, rheumatoid arthritis, thyroid disorders, nutritional deficiencies, and gram-negative sepsis. We present a 57-year-old female with past medical history of rheumatoid arthritis, who presented to the emergency department with a complaint of chronic diarrhea, complicated by gram-negative sepsis. The family history of the patient was significant for celiac disease, type 1 diabetes, and rheumatoid arthritis. The patient was closely monitored and treated appropriately. In this case-based review, we explore different associated conditions of celiac disease in the literature, as well as the patient's risk of developing malignancy.

Following the first report of COVID-19 infection in December 2019 as a respiratory illness, it has proven to be a multisystem disease. There are few reported cases of ischemic colitis with COVID-19 infection in the medical literature to date and we have limited understanding of its pathophysiology. We report 2 cases of ischemic colitis as the only manifestation of COVID-19. In addition, we review the current limited literature regarding COVID-19-associated ischemic colitis.

The objective of this article is to highlight the clinical features, screening, diagnosis, treatment, and prevention of gastric cancer (GC). Early GC is often asymptomatic leading to frequent delays in diagnosis. Weight loss and persistent abdominal pain are the most common symptoms at initial diagnosis. The diagnosis of GC typically involves a combination of endoscopy, biopsy, and imaging studies. Endoscopic resection techniques are emerging as successful treatment options for early GC. Treatment options for advanced GC include surgery and chemotherapy. The first line chemotherapy for advanced GC consists of doublet therapy with a combination of platinum and fluoropyrimidines. Trastuzumab, a monoclonal antibody, is used in the treatment of human epidermal growth factor 2 positive GCs. Anti-angiogenic agents and immunotherapy are also useful in the treatment of GC. Currently there are no GC screening guidelines in the United States, but they exist in other regions where there is increased prevalence of GC. Prevention strategies for GC include Helicobacter pylori eradication and adoption of a healthy diet consisting of fruits and vegetables.

Blastomycosis is a dimorphic fungus caused by the species of Blastomyces dermatitidisand Blastomyces gilchristii, which are endemic to the Ohio River and Mississippi River Valleys. It is commonly found in soil or decomposing wood. It is capable of infecting both immunocompromised and immunocompetent patients via the respiratory tract by inhaling conidia, where it may remain asymptomatic for a prolonged period of time. Extrapulmonary complications can occur in disseminated disease due to haematogenous spread from the lungs to other organ systems. Haematogenous dissemination from the lungs occurs most commonly to the skin. Although rare, primary cutaneous blastomycosis can also occur with direct inoculation through the trauma of the skin. Patients presenting with cutaneous blastomycosis are often misdiagnosed with malignant neoplasms and may not be appropriately managed until further testing and tissue biopsy. Currently, there are only four previous case reports of blastomycosis presenting in the intranasal region. We report two cases of cutaneous blastomycosis of the nasal passages and upper lip with pulmonary manifestations in Southern West Virginia. These patients first presented with cutaneous symptoms, which were originally treated for melanoma and squamous cell carcinoma and were later diagnosed with systemic blastomycosis

BACKGROUND: Hispanics often have disparities at the end of life. They are more likely to die full code and less likely to have discussions regarding prognosis and do not resuscitate (DNR)/do not intubate (DNI), despite studies showing Hispanic values comfort over the extension of life. Barriers to patient-centered care include language,socioeconomic status and health literacy. CONTEXT: We evaluated the impact of palliative care (PC) consults on the change of code status and hospice referrals, comparing seriously ill Hispanic and non-Hispanic white patients. METHOD: A retrospective cohort study of all white and Hispanic patients referred to the PC service of a county hospital from 2006 to 2012. We evaluated ethnicity, language, code status at admission and after PC consult, and hospice discharge. Chi-squared tests were used to analyze characteristics among three groups: non-Hispanic white, English-speaking Hispanic, and Spanish-speaking Hispanic patients. RESULTS: Of 925 patients, 511 (55%) were non-Hispanic white, 208 (23%) were English-speaking Hispanic, and 206 (22%) were Spanish-speaking Hispanic patients. On admission, there was no statistically significant difference in code status among the three groups (57%, 64%, and 59% were full code, respectively, p = 0.5). After PC consults, Spanish-speaking Hispanic patients were more likely to change their code status to DNR/DNI when compared with non-Hispanic white and English-speaking Hispanic patients (44% vs. 32% vs. 28%, p = 0.05). Spanish-speaking Hispanic patients were more likely to be discharged to hospice when compared with English-speaking Hispanics and non-Hispanic whites (33%, 29%, and 23%, respectively, p = 0.04). SIGNIFICANCE OF RESULTS: Spanish-speaking Hispanic patients were more likely to change from full code to DNR/DNI compared with non-Hispanic white and English-speaking Hispanic patients, despite similar code status preferences on admission. They were also more likely to be discharged to hospice. PC consults may play an important role in helping patients to align their care with their values and may prevent unwanted aggressive interventions at the end of life.

Clostridium difficile infection is a common nosocomial infection in US hospitals, accounting for approximately 12 800 deaths annually in the United States. These infections are often associated with the use of antibiotics, which can alter the gut microbiome and thus render patients susceptible to C difficile infection. C difficile is often spread via fecal oral transmission. Multiple medications have been developed, but recurrence rates reach 60% after treatment. Recent data have shown that zinc supplementation decreases the recurrence of C difficile infection. In this article, we present a case of recurrent C difficile infection with zinc deficiency in which zinc supplementation improved the symptoms and reduced the incidence of recurrence.

This is a book about simple but important words, and how they shed light on the way the human mind works. The author, winner of the National Book Award, examines the origin of words, the development of language, and tells us how language preserves us, binds us, and makes us a social species.

We are reporting a case of massively enlarged left inguinal hernia containing the stomach and presenting with coffee ground emesis. Esophagogastroduodenoscopy (EGD) identified a non-ischemic stomach with three small gastric ulcers. The patient opted for non-surgical management.

BACKGROUND: Bouveret syndrome, also known as gallstone ileus, is a rare form of gastric outlet obstruction accounting for 1%-3% of cases. This condition is most often reported in females. The diagnosis can be challenging and is often missed due to atypical presentations, which occasionally mimic gastric outlet obstruction symptoms such as nausea, vomiting, loss of appetite and hematemesis. The symptoms vary with stone size. Larger stones are managed with a surgical approach, but this carries increased morbidity and mortality. Over the past decade, the endoscopic approach has emerged as an alternative mode of treatment, but it is generally unsuccessful in the management of larger-sized stones. A literature review revealed cases of successful endoscopic treatment requiring multiple sessions for stone sizes measuring up to about 4.5 cm. Here we present a unique case of an elderly patient with Bouveret syndrome with a 5 cm stone mimicking a gastric mass and causing gastric outlet obstruction, who was successfully managed in a single session using a complete endoscopic approach with laser lithotripsy. CASE SUMMARY: An 85-year-old female patient presented with 1-month history of intermittent abdominal pain, vomiting, decreased appetite and weight loss. An abdominal computed tomography showed a 4.5 cm × 4.7 cm partially calcified mass at the gastric pylorus causing gastric outlet obstruction. Endoscopy showed an ulcerated fistulous opening and a large 5 cm impacted gallstone in the duodenal bulb. Endoscopic nets and baskets were used in an attempt to remove the stone, but this approach was unsuccessful. Given her advanced age, poor physical condition and underlying comorbidities, she was deemed to be high-risk for surgery. Thus, a minimally invasive approach using endoscopic laser lithotripsy was attempted and successfully treated the stone. Post-procedure, the patient experienced complete resolution of her symptoms with no complications and was able to tolerate her diet. She was subsequently discharged home at 48 h, with an uneventful recovery. CONCLUSION: In our paper we describe Bouveret syndrome and highlight its management with a novel endoscopic approach of laser lithotripsy in addition to various other endoscopic approaches available to date and its success rates.