Genetic Phenomena Commons^™

Immune-Mediated Necrotizing Myopathy In Association With Statin Exposure, Charlie E. Babcock, Phebie Rossi, Jennifer Hasvold

Aesculapius Journal (Health Sciences & Medicine)

Statins are first-line therapy for hyperlipidemia and are widely prescribed in primary care. Although generally safe, they carry rare but serious risks that must be considered on an individual basis. One such complication is immune-mediated necrotizing myopathy (IMNM), an autoimmune condition characterized by persistent muscle weakness and elevated creatine kinase (CK) despite discontinuation of the statin. We describe an 87-year-old man with a history of atorvastatin intolerance who was reinitiated on the medication five years later. Shortly thereafter, he developed progressive weakness, recurrent hospitalizations, and ultimately was diagnosed with IMNM confirmed by biopsy and HMG-CoA reductase antibodies. Despite treatment with …

Bilateral Congenital Radioulnar Synostosis - Case Report, Derek A. Diangelis, Matthew J. Hudson

Advances in Clinical Medical Research and Healthcare Delivery

A 2-year-old male presented to an orthopedic outpatient office due to a supination defect in both of his upper limbs. X-rays of the affected limbs revealed fusion of the proximal radioulnar joints indicating congenital radioulnar synostosis (CRUS). CRUS is abnormal development of the upper limbs occurring during weeks 3—7 of embryological development. Causes of CRUS include genetic syndromes and spontaneous mutations. Treatment options include nonoperative and surgical treatments, however, treatment is controversial due to a lack of clinical evidence. Proposed screening methods could help improve detection rates and improve clinical management. This report aims to increase awareness of CRUS and …

Wilson’S Disease Psychosis In A Young Man With Autism Spectrum Disorder: A Case Report And Focus On Management, Landon C. Sowell, Barbara L. Gracious

HCA Healthcare Journal of Medicine

Introduction

Wilson's disease is a rare autosomal recessive disorder, affecting approximately 1 in 30 000 individuals and is characterized by abnormal copper accumulation in the body, primarily affecting the liver and brain. Psychiatric manifestations as a first presentation, particularly psychosis, are less commonly recognized resulting in failure to begin treatment early in the course of the disease. This case report highlights a patient that presented to the hospital with psychosis, who was later diagnosed with Wilson’s disease. This case underscores the importance of considering organic causes in first-episode psychosis.

Case Presentation

An 18-year-old man with a history of autism spectrum …

Cns And Retinal Radiologic Findings Of A Young Patient With Heterozygous Prothrombin G20210a Gene Mutation, Justina Kasteri, Timothy Ehmann, Bryan Scott

Advances in Clinical Medical Research and Healthcare Delivery

Stroke is one of the leading causes of death and acquired long-term disability in the world.¹ In United States stroke is the 5^th leading cause of death with a mortality rate of 49.1 deaths per 100,000 people.² Strokes can be ischemic or hemorrhagic in origin, of which 85% are ischemic strokes. Approximately 10--15% of ischemic strokes occur in patients 18-50 years of age, and inherited thrombophilia may be a contributing factor through induction of a hypercoagulable state. Prothrombin G20210A mutation has an overall prevalence of approximately 2% of the general population, with an association between young patients …

Autoimmunity And The Epigenome, Jeffrey S. Miller Jr

The Cardinal Edge

No abstract provided.

Pancreatic Cancer; From Effective Prevention And Early Diagnosis To Personalized Therapy, Adrian Silaghi, Dragos Serban, Bogdan Gaspar, Valentin Verlas, Dragos Epistatu, Cristian Paius, Roxana Sfetea, Liliana Andronache, Ioana Paunica, Irina Ruxandra Strambu, Daniela Gabriela Bălan, Alexandru Florin Motofei, Vlad Denis Constantin

Journal of Mind and Medical Sciences

Despite substantial improvements in survival rates for most cancers, pancreatic cancer still remains a leading cause of death from malignancy. The disease has no symptoms in the initial stages, it can early invade the surrounding organs, and treatment methods have poor long-term prognosis. In addition, this neoplasia is starting to be diagnosed more and more frequently in young people. High incidences have been found in developed regions such as Europe, North America, Australia, but recent data show that this condition is increasing in other regions as well. Pancreatic cancer involves multiple factors such as cigarette smoking, obesity, diabetes, alcohol consumption, …

Management Targeted Genetic Evaluation Of An Idiopathic Neuropathy Cohort Through Attrv Amyloidosis Screening, Kristy A. Fisher, Santiago Diaz, Jeffrey Gelblum, Charles Brock, Niraja Suresh, Meghan Towne

HCA Healthcare Journal of Medicine

Background

While the reported prevalence of polyneuropathies is 1%-3%, the incidence of hereditary transthyretin amyloidosis in the United States is estimated to be 1 in 100 000 individuals. Polyneuropathies are known to be difficult to treat and lead to significant morbidity. The aim of pain management is symptomatic treatment, with varying approaches to progression prevention being based on the causative pathophysiology.

We assessed the prevalence of hereditary amyloid transthyretin variant (ATTRv) amyloidosis, a progressive autosomal dominant multisystem disease caused by the abnormal formation and extracellular deposition of transthyretin protein fibrils in various tissues, in an idiopathic polyneuropathy population by using …

Genetic And Serological Markers In Colorectal Cancer Surgery, Adrian Silaghi, Vlad Denis Constantin, Dragos Serban, Dragos Epistatu, Ioana Paunica, Daniela Gabriela Bălan, Laura Florentina Rebegea

Journal of Mind and Medical Sciences

Colon cancer is relatively asymptomatic in the early stages, the manifestations appearing and intensifying with the evolution of the disease, especially when associated with local and/or systemic complications. In such cases, surgical interventions are often emergency and involve more extensive operations (on metabolically and immune-stressed organisms), so that an early diagnosis (endoscopy, tumor markers, etc.) remains not only desirable but even a priority, especially in predisposed patients (genetic factors, lifestyle, etc.). As a consequence, the involvement of tumor markers in colon neoplasms has become more and more investigated in recent times. This review investigates the roles of serological and genetic …

Review Of: Pull Through Blessings: The Colorful Tapestry Of Hirschsprung’S Disease—Lisa Sensenig And Helen Zimmerman, Adin Stauffer

Journal of Amish and Plain Anabaptist Studies

Hirschsprung’s Disease (HD) is a genetic condition found in a child born without ganglion cells in part of the intestines. Ganglion cells send signals to intestinal muscles to contract to help pass bowel movements. No signal means no bowel movement, which results in babies not eating, becoming uncomfortable and sleepy, spitting up, and if not treated, eventually dying. [First paragraph.]

Extrinsic Allergic Alveolitis: A Systematic Review Of Hla-Dr In Pigeon Breeder’S Disease, Dylan Thibaut, Ryan A. Witcher, Anitha Kunnath, James Toldi

Advances in Clinical Medical Research and Healthcare Delivery

Abstract

Introduction: Pigeon Breeder’s Pneumonitis (PBP) results due to a complex pathophysiology that includes exposure to avian antigens. Susceptibility has been linked to human leukocyte antigen (HLA) class II, though consensus has not been reached. The goal of this systematic review is to further elucidate the association between PBP and HLA-DR subtypes.

Methods: Databases utilized included PubMed, Google Scholar, ScienceDirect, and Cochrane Library. Inclusion required a minimum of three studies in English presenting HLA-DR alleles of PBP and control subgroups. Exclusion was due to insufficient data or non-feasible control groups. Forest plots were created for HLA-DR subtypes’ association …

Congenital Epulis: A Two-Case Report, Monica Ivanov, Bianca Stroe, Valeriu Ardeleanu, Razvan Hainarosie, Vlad Denis Constantin, Anca Silvia Dumitriu, Stana Paunica, Anna Kadar

Journal of Mind and Medical Sciences

Congenital epulis is a rare benign tumor of the newborn that could be detected in the prenatal period. Females are more often affected than males and the premaxillary region is usually the predilection site for this oral mass. Excision is the treatment of choice and no recurrences have been reported so far.

We present our experience with two cases of congenital epulis, detected in the second trimester of gestation and treated shortly after birth with no further complications. Histopathology should differentiate between congenital epulis and other congenital oral tumors even if its clinical appearance is usually enough to make a …

Periaortic Venous Necklace And Renal Right Double Arteries; Case Report, Petru Bordei, Constantin Andrei Rusali, Constantin Ionescu, Dragos Serban, Valeriu Ardeleanu

Journal of Mind and Medical Sciences

The case was found on an organic sample consisting of the two kidneys with the renal pedicles and the corresponding segments of the abdominal aorta and inferior vena cava. From the inferior face of the left renal vein, on the lower side of the aorta, a venous branch with an upward path of 8.02 mm was detached, passing on the anterior face of the aorta, passing before its right side, in order to end on the left side of the inferior vena cava, 13.9 mm above the end of the left renal vein in the inferior vena cava, this branch …

How Opportune Is Multigene Testing In Metastatic Colorectal Cancer? A Review, Cristina Orlov-Slavu, Andreea Parosanu, Mihaela Olaru, Dragos Serban, Ioana Paunica, Cornelia Nitipir

Journal of Mind and Medical Sciences

Personalized treatment in oncology is the most innovative method of care. The best method to establish personalized treatment is by genetic characterization of the malignant cell.

Theoretically, the more detailed the characterization, the more effective the choice of treatment becomes. Currently, there are fast and relatively low-cost options that allow such genetic characterization. However, test results sometimes do not detect targetable alterations and, even if they do detect, the use of the treatment-alteration combination does not always generate a satisfactory oncological response.

The present paper aims to answer two questions. First, how targetable can the most common gene alterations in …

The Onset Of Exercise-Associated Hyponatremia And Individual Differences In Inappropriate Arginine Vasopressin Excretion: A Review Of Proposed Mechanisms, Michelle Stehman, Stephen A. Maris

Topics in Exercise Science and Kinesiology

Topics in Exercise Science and Kinesiology Volume 2: Issue 1, Article 10, 2021. Exercise-associated hyponatremia (EAH) has been reported to develop during endurance events such as triathlons and marathons. As these events become more popular, the incidence of developing EAH also increases. The development of EAH is commonly associated with the overconsumption of hypotonic fluids such as water and tends to be more prevalent in females. There is also evidence to suggest the inappropriate secretion of arginine vasopressin (AVP) leading to water retention may predispose an individual for developing EAH, especially when coupled with the overconsumption of fluids. Recent research …

Triple Negative Breast Cancer In An Appalachian Region: Exponential Tumor Grade Increase With Age Of Diagnosis, Gina Sizemore, Toni Marie Rudisill

Journal of Appalachian Health

Introduction: Triple negative breast cancer is an aggressive breast cancer with decreased five-year survival, increased risk for recurrence, and higher risk for metastases. Unlike other breast cancers, it has no targeted treatment and has heterogeneous genetics which make classification and treatment difficult.

Purpose: The purpose of our research was to compare triple negative breast cancer to non-triple negative breast cancer to identify key epidemiologic factors that might lead to improved basic science directives for biomarkers, treatments, and classification.

Methods: The state cancer registry was used to provide the first West Virginia state-wide population evaluation of triple negative breast cancer.

Results: …

Microangiopathic Haemolytic Anaemia Diagnosis And Management In Thrombotic Thrombocytopenic Purpura And Haemolytic Uraemic Syndrome: A Review, Adam P. Korneluk

International Undergraduate Journal of Health Sciences

Microangiopathic haemolytic anaemia (MAHA) describes non-immune haemolysis by intravascular fragmentation of red blood cells, resulting from microvascular thrombosis characteristic of thrombotic microangiopathy (TMA). TMA-associated MAHAs include several diseases but are mostly associated with thrombotic thrombocytopenic purpura (TTP) and haemolytic-uremic syndrome (HUS). TTP is caused by a severe deficiency in ADAMTS13 proteinase, responsible for regulating coagulation, either due to presence of anti-ADAMTS13 (acquired iTTP; immune-mediated) or mutations in ADAMTS13 itself (congenital cTTP). HUS is caused by abnormal and uncontrolled complement activation, either by bacterial toxin activity (typical dHUS) or lack of normal regulatory proteins (atypical aHUS). This review focuses on TTP …

Full Issue: The International Undergraduate Journal Of Health Sciences, Volume 1, Issue 1, June 2021, Iujhs Full Issue

International Undergraduate Journal of Health Sciences

The full June 2021 issue (Volume 1, Issue 1) of the International Undergraduate Journal of Health Sciences

Polymorphisms Of Vascular Endothelial Growth Factor -2578c/A Rs699947 Are Risk Factors For Diabetic Retinopathy In Type-2 Diabetes Mellitus Patients In Bali, Indonesia, Audrey Rachel Wijaya, I Wayan Surudarma, Desak Made Wihandani, I Wayan Ardyan Sudharta Putra

BioMedicine

Background: Diabetic retinopathy (DR) is one of the complications in diabetes mellitus (DM) which caused by microvascular damage in the retina due to long term metabolic changes in diabetes. To date, there has been much research targeted on the determinant of genetic identification in DR patients. In DR, Vascular Endothelial Growth Factor (VEGF) gene is accountable for breaking down the blood-retinal barrier and implicated in the role of neovascularization. It is thought that the polymorphism of VEGF -2578C/A (rs699947) contributed to the development of diabetic retinopathy in type 2 DM.

Aim: To determine whether the polymorphisms of VEGF-2578C/A are the …

Contribution Of The Human Microbiome And Proteus Mirabilis To Onset And Progression Of Rheumatoid Arthritis: Potential For Targeted Therapy, Jessica Kerpez, Marc Kesselman, Michelle Demory Beckler

Internet Journal of Allied Health Sciences and Practice

The human microbiome has been shown to play a role in the regulation of human health, behavior, and disease. Data suggests that microorganisms that co-evolved within humans have an enhanced ability to prevent the development of a large spectrum of immune-related disorders but may also lead to the onset of conditions when homeostasis is disrupted. In many conditions, a link between dysbiosis (microbial imbalance or microbiome upset) has been identified and associated with immune conditions such as rheumatoid arthritis (RA). This review provides insight into how an individual’s unique microbiome, combined with a genetic predisposition and environmental factors may lead …

Immunohistochemical Pattern– A Prognostic Factor For Synchronous Gastrointestinal Cancer, Catalin Alius, Catalin Gabriel Cirstoveanu, Cristinel Dumitru Badiu, Valeriu Ardeleanu, Vasile Adrian Dumitru

Journal of Mind and Medical Sciences

Recent advancements in medical genetics and molecular biology are reflected in the modern understanding and approach to colorectal carcinoma (CRC). Understanding the cellular mechanisms and mutational patterns that promote carcinogenesis could enhance the predictive accuracy of the TNM classification. Furthermore, this will allow for a much more documented stratification and tailored oncological treatment. This paper presents an illustrative case of a relatively young patient (50 years old) with no family history of cancer who was diagnosed with four synchronous gastrointestinal (GI) adenocarcinomas displaying a wild type P53, negative BRAF testing, and mutated MLH1 and PMS2 proteins. This case report contributes …

Acute Diagnosis Of Wilson’S Disease In A Teenage Patient, Sarah Irvin, Ryan Mccarthy

Marshall Journal of Medicine

Wilson’s Disease, a rare autosomal recessive genetic disease, is caused by a mutation in the ATP7B enzyme gene. Without this enzyme, copper builds up in the brain, liver, and cornea causing a multitude of symptoms. It is important to consider Wilson’s disease because the prognosis is dependent on timely diagnosis. This is an interesting case of a 19-year-old male who presented with suicidal thoughts and rapid weight loss. After many months and an extensive work-up, Wilson’s Disease was diagnosed. Due to his rapid decline, he was transferred to a larger university healthcare center where he is currently enrolled in clinical …

Overview Of Kalydeco® (Ivacaftor) For Treatment Of Cystic Fibrosis, Andrew Skouby, Kayti Kintner, Kimberly Loughlin, Emily Blum, Michael Rush

Pharmacy and Wellness Review

Cystic fibrosis (CF) is a genetic disease associated with specific gene mutations that presents with pulmonary inflammation and frequent lung infections, exocrine pancreatic insufficiency, altered sweat composition and declining lung function. Ivacaftor (Kalydeco®) was approved for treatment of cystic fibrosis in patients 6 years of age and older with a G551D mutation on the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Ivacaftor is a CFTR potentiator and does not work in patients with a mutation of the F508del. Efficacy has been demonstrated in several trials with a primary outcome of improved FEV1, improvements in pulmonary exacerbations, patient-reported decrease in respiratory …

Epigenetics: A Possible Mechanism Of Memory, Aliza Grossman Rubenstein

The Science Journal of the Lander College of Arts and Sciences

The following is an excerpt from the introduction to this article: The mind-body connection has fascinated philosophers and scientists for centuries. How is it possible that consciousness arises from a lump of matter known as the brain? How does neurons’ firing affect choice and beliefs? How do the electrochemical properties of the brain allow for the memory of events long after they’ve occurred? One of the most studied of these areas is that of memory. Researchers seek to understand the biological basis behind memory and how that biology is affected in individuals suffering from memory disorders.

P40: The Missing Link Between Autophagy And Cancer?, Mittul Patel

Kaleidoscope

No abstract provided.

Diurnal Variations Of Genes Contributing To Sodium And Potassium Cardiac Currents, Parvathi Nataraj

Kaleidoscope

No abstract provided.

Epigenetics As An Explanation For Phenotypic Variation In Monozygotic Twins, Marina Pomerantseva

The Science Journal of the Lander College of Arts and Sciences

The following is the introduction of this article: Researchers often use twins as natural samples to test hypotheses regarding the contribution of genetic factors to different phenotypes, especially diseases. The classical method is comparing traits in identical, or monozygotic (MZ) twins to those of dizygotic (DZ) twins. This method has had a significant impact on our current understanding of etiologic factors in many diseases which do not follow simple Mendelian law (i.e. complex diseases), including schizophrenia, bipolar disease, and major depression.

Role Of Genetics In Prediction Of Coronary Artery Disease, Andrey Yuabov

The Science Journal of the Lander College of Arts and Sciences

The following is the introduction of this article: Coronary arteries disease (CAD) is a leading cause of death in United States and rest of the world. It mostly involves atherogenic formation within the walls of the coronary arteries, which in turn restricts the adequate perfusion to the heart muscle. This leads to myocardial infarction and sudden death. In the past few decades the theories of coronary arteries disease pathogenesis have changed. The facts reveal that the onset of the disease can develop as early as childhood. The degree of the disease gradually progresses in stages and it is regarded as …

Duplication And Deletion 11q23-Q24 Recombinants In Two Offspring Of An Intrachromosomal Insertion ("Shift") Carrier, Miriam G. Forsythe, Hugh Walker, Lester Weiss, Jacquelyn R. Roberson, Maria J. Worsham, V. Ramesh Babu, Daniel L. Van Dyke

Henry Ford Hospital Medical Journal

Few examples of intrachromosomal insertions have been described. These usually result from deletion of a segment of chromosome material, with insertion of the deleted material elsewhere on the same chromosome. Previous insertional translocations have been identified through a proband who has either a deletion or a duplication of the inserted segment. We describe a family which has two probands, one with a duplication and one with a deletion of the inserted segment. The unbalanced chromosomes probably resulted from an uneven number of crossovers between the breakpoints in the chromosome 11 of the father, who carries a balanced intrachromosomal insertion of …

Regulating Human Gene Therapy, Judith Areen

West Virginia Law Review

No abstract provided.

The Xyy Syndrome And The Judicial System, Paul Cheverie

North Carolina Central Law Review

No abstract provided.