Diseases Commons^™

Co-Occurrence Of Autism Spectrum Disorder And Attention-Deficit/Hyperactivity Disorder With Idiopathic Hypersomnia: Data From The Hypersomnia Foundation Registry, Sophie Sevan Mikkelsen

Honors Undergraduate Theses

In recent years, hypersomnia patients and researchers alike have increasingly discussed the possibility of heightened comorbidities, or co-occurrences, of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) with the central disorders of hypersomnolence: idiopathic hypersomnia (IH) and narcolepsy (N). While a few scarce studies have investigated a link between ADHD and N, there has been no research on the co-occurrence of these conditions with IH. This study, using data from the Hypersomnia Foundation’s CoRDS Patient Registry, is the first to identify self-reported rates of ASD and ADHD diagnoses by people with idiopathic hypersomnia. Four chi-square tests were conducted to determine …

Characterizing The Cellular Response To Astrovirus Infection In The Central Nervous System, Amy E. Davis

Theses and Dissertations (ETD)

Central nervous system (CNS) diseases caused by infectious agents pose significant health challenges, often leading to severe neurological dysfunction with high morbidity and mortality rates. Astroviruses (AstVs), traditionally known for causing gastroenteritis, have recently been identified as neuroinvasive pathogens capable of inducing neurological diseases. This study explores the cellular and molecular mechanisms by which AstV, specifically non-classical VA1 and classical HAstV1 genotypes, induce CNS pathology in human neurons and astrocytes. Utilizing primary human neurons and astrocytes from various brain regions, this research investigates the cytotoxic effects, apoptotic pathways, and inflammatory responses triggered by these viruses. This study reveals that VA1 …

Pan-Cancer Genomic Characterization Of Human Papillomavirus Associated Tumors, Jeremiah Ray Holt

Theses and Dissertations (ETD)

Infection with high-risk human papillomavirus (HPV) accounts for nearly all cervical cancers (CESC), a subset of other anogenital squamous cancers, and increasing rates of head and neck squamous cell carcinomas (HNSC), with each cancer type having heterogenous outcomes due to a general lack of personalized care. Large scale genomic analyses have catalogued the somatic alterations occurring frequently among squamous tumor types including HNSC and CESC, but few studies have incorporated a thorough analysis of HPV genomics. High-risk HPVs are double-stranded DNA (dsDNA) viruses capable of integrating their genomes into host chromosomes, a phenomenon known to promote HPV-associated cancer formation. HPV …

Ftsk Regulates The Assembly Of The Division Machinery In The Ftsz-Less Chlamydia Trachomatis, Mckenna Katherine Harpring

Theses and Dissertations (ETD)

In evolving to obligate intracellular dependence, Chlamydia trachomatis serovar L2 (Ct), has eliminated several gene products essential for cell division in most other bacteria, including FtsZ, the central coordinator of divisome assembly. In the absence of FtsZ, we show that divisome assembly in Ct is initiated by FtsK, a chromosomal translocase. Chlamydial FtsK forms discrete foci at the septum and at the base of the progenitor mother cell, and our data indicate that FtsK foci at the base of the mother cell mark the location of nascent divisome complexes that form at the site where a daughter cell will emerge …

Interplay Of Antibody Responses To Closely Related Viruses And Autoimmunity, Chun-Yang Lin

Theses and Dissertations (ETD)

Antibodies produced by B cells are crucial for eliminating infectious pathogens and preventing secondary infection. However, antibodies may also bind to self-antigens and contribute to autoimmune disease. While pathogen infections have been associated with development of autoimmune diseases, the precise contributions of viral infections to autoimmunity remain elusive. The presence of autoreactive antibodies is associated with an increased risk of developing autoimmune disease. Thus, analyzing the impact of viral infection and vaccination on the development of autoreactive antibodies will provide essential insight into mechanisms that contribute to autoimmune disease.

Examining How Non-Antifungal Medications Impact Host-Fungal Interactions, Parker Ryan Reitler

Theses and Dissertations (ETD)

Invasive fungal infections (IFIs) are estimated to kill 1.5 million people each year with mortality rates remaining high (around 30-70%), despite the availability of three major classes of antifungal drugs. Furthermore, millions more suffer debilitating infections of the mucosal membranes or destructive subcutaneous mycoses. One of the most common IFIs is invasive candidiasis, mostly commonly caused by Candida albicans infections, with mortality rates of approximately 30%. In addition, the population of susceptible individuals and the incidences of both mucosal and systemic mycoses continue to rise due to the widespread use of broad-spectrum antibacterial agents, cancer chemotherapies, and the immune suppressive …

Genotypes Of Snps Of Key Genes Regulate Susceptibility And Drug Sensitivity To Neovascular Amd, Jinglin Cui

Theses and Dissertations (ETD)

Age-related macular degeneration (AMD), particularly its neovascular form, stands as a leading cause of blindness globally, with its prevalence in our country on a steady rise. This underscores the critical impact of neovascular AMD (nAMD) management on patient quality of life and societal burden. Current optimal treatments hinge on anti-vascular endothelial growth factor (anti-VEGF) therapies, though their efficacy varies across different drugs and individuals, highlighting the importance of precise drug selection in clinical outcomes. Research suggests that factors such as baseline vision, age, disease duration, lesion size, central retina thickness, neovascularization type, and demographic differences influence nAMD prognosis. In addition, …

Anatomical And Physiological Characterization Of Striatal Activation Of The Cerebral Cortex, Yuhan Wang

Theses and Dissertations (ETD)

Purpose. The striatum receives excitatory glutamatergic input from nearly all parts of the cerebral cortex, and its output is delivered by direct pathway medium spiny neurons (dMSNs) expressing D1 type dopamine (DA) receptors (D1Rs) and indirect pathway MSNs (iMSNs) expressing D2 DA receptors (D2Rs). Loss of DA results in the imbalance between the activities of dMSNs and iMSNs in Parkinson’s disease (PD), leading to ab-normal interactions between the cerebral cortex and striatum. Thus, understanding the inter-actions between the cortex and striatum is important. The monosynaptic corticostriatal cir-cuit has been extensively studied. In contrast, due to the poly-synaptic nature of the …

Molecular Determinants Of Trp Channel Gating, Briar J. Bell

Theses and Dissertations (ETD)

Transient Receptor Potential (TRP) ion channels are a family of proteins that contribute to a myriad of physiological functions. They have been extensively studied since their discovery 35 years ago; however, there are still many questions regarding the mechanisms by which they function. This family of proteins is characterized by a generally shared structure: an intracellular N terminus featuring ankyrin repeats, six transmembrane helices including the pore domain, a re-entrant loop and TRP helix, and an intracellular C terminus with varying structure. Each of these regions has been implicated in the regular function of TRPs, while mutations that alter trafficking …

Grading Of Malnutrition Among Under 5 Children Residing In Urban Slum In Mysuru Using Who Classification And Indian Academy Of Pediatrics (Iap) Classification: A Comparative Study, Ravali Annaram Dr, Amogha Shree Dr, Saurish Hegde Dr, Krishnaveni Y S Dr

Digital Journal of Clinical Medicine

Background

Malnutrition in Indian children under five is widespread, driven by insufficient food intake and diseases like diarrhoea and respiratory infections. Factors such as food security, maternal literacy, and healthcare access influence malnutrition rates. Growth monitoring utilizes WHO standards globally and IAP guidelines in India. Implementing these charts improves early identification and management of malnutrition, crucial for addressing childhood health challenges in India. This study compare the prevalence of malnutrition in WHO classification with Indian Academy of Paediatrics (IAP) classification among under 5 children residing in urban slum.

Methodology

A community based cross-sectional study was conducted among children aged 6 …

How Should Clinical Wound Care And Management Translate To Effective Engineering Standard Testing Requirements From Foam Dressings? Mapping The Existing Gaps And Needs, Amit Gefen, Paulo Alves, Dimitri Beeckman, Breda Cullen, José Luis Lázaro-Martínez, Hadar Lev-Tov, Bijan Najafi, Nick Santamaria, Andrew Sharpe, Terry Swanson, Kevin Woo

Center on Aging Staff Publications

Significance: Wounds of all types remain one of the most important, expensive, and common medical problems, for example, up to approximately two-thirds of the work time of community nurses is spent on wound management. Many wounds are treated by means of dressings. The materials used in a dressing, their microarchitecture, and how they are composed and constructed form the basis for the laboratory and clinical performances of any advanced dressing.

Recent Advances: The established structure/function principle in material science is reviewed and analyzed in this article in the context of wound dressings. This principle states that the microstructure determines the …

A Woman With Bilateral Pheochromocytoma And Tuberous Sclerosis Complex, Maleeha Zahid, Shalini Koshy, Jawairia Shakil, Helmi S Khadra, Luan D Truong, Archana R Sadhu

Faculty, Staff and Students Publications

BACKGROUND/OBJECTIVE: Pheochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumors. Here, we report an unusual case of synchronous PPGL in an asymptomatic patient with tuberous sclerosis complex (TSC).

CASE REPORT: A 49-year-old woman with a history of TSC and end-stage renal disease was referred for evaluation of bilateral adrenal and retroperitoneal masses. She denied chest pain, palpitations, headaches, or previous hypertensive crisis. The laboratory test results showed a plasma normetanephrine level of 20.20 nmol/L (normal range, 0.00-0.89 nmol/L) and plasma chromogranin A level Chromogranin A (CgA) levels of 1518 ng/mL (normal range, 0-103 ng/mL). The plasma metanephrine level was normal. After …

Combinatorial Atoh1, Gfi1, Pou4f3, And Six1 Gene Transfer Induces Hair Cell Regeneration In The Flat Epithelium Of Mature Guinea Pigs, Yujie Liu, Lin Yang, Sunita Singh, Lisa A Beyer, Diane M Prieskorn, Donald L Swiderski, Andrew K Groves, Yehoash Raphael

Children’s Nutrition Research Center Staff Publications

Flat epithelium (FE) is a condition characterized by the loss of both hair cells (HCs) and supporting cells and the transformation of the organ of Corti into a simple flat or cuboidal epithelium, which can occur after severe cochlear insults. The transcription factors Gfi1, Atoh1, Pou4f3, and Six1 (GAPS) play key roles in HC differentiation and survival in normal ears. Previous work using a single transcription factor, Atoh1, to induce HC regeneration in mature ears in vivo usually produced very few cells and failed to produce HCs in severely damaged organs of Corti, especially those with FE. Studies in vitro …

Employing A Machine Learning Approach In Precision Oncology To Predict Pik3ca Functional Status And Identify Phenocopying Variants Of Deleterious Pik3ca Mutations, Javier Castillo

CMC Senior Theses

The following proposal describes a modular machine learning approach that detects malfunctioning genes and pathways in cancer using the transcriptome of cancer patients. The transcriptome is underused in precision oncology and, combined with machine learning, can aid in the identification of hidden responders. Applied to the PI3K/AKT/mTOR pathway, this method can be used to predict PIK3CA functional status and identify phenocopying variants of deleterious PIK3CA mutations. The classifier will do this by integrating RNA-seq, copy number, and mutation data from tumors to determine the functional status of PIK3CA using a set of learned gene-specific weights. The classifier will then be …

Variant Of The Lactase Lct Gene Explains Association Between Milk Intake And Incident Type 2 Diabetes, Kai Luo, Guo-Chong Chen, Yanbo Zhang, Jee-Young Moon, Jiaqian Xing, Brandilyn A Peters, Mykhaylo Usyk, Zheng Wang, Gang Hu, Jun Li, Elizabeth Selvin, Casey M Rebholz, Tao Wang, Carmen R Isasi, Bing Yu, Rob Knight, Eric Boerwinkle, Robert D Burk, Robert C Kaplan, Qibin Qi

Faculty, Staff and Student Publications

Cow's milk is frequently included in the human diet, but the relationship between milk intake and type 2 diabetes (T2D) remains controversial. Here, using data from the Hispanic Community Health Study/Study of Latinos, we show that in both sexes, higher milk intake is associated with lower risk of T2D in lactase non-persistent (LNP) individuals (determined by a variant of the lactase LCT gene, single nucleotide polymorphism rs4988235 ) but not in lactase persistent individuals. We validate this finding in the UK Biobank. Further analyses reveal that among LNP individuals, higher milk intake is associated with alterations in gut microbiota (for …

Alopecia As An Early Clinical Marker For Azathioprine Induced Myelosuppression: A Case Report, Nilanjana Dutta , Final Year Mbbs, Dr. M Suresh Babu , Professor, Dr. Subramanian Ramaswamy , Professor, Dr. Mahabaleshwar Mamadapur , Assistant Professor

Digital Journal of Clinical Medicine

Azathioprine is a pro-drug and is metabolized by the TPMT enzyme in the body. In South Asians, Azathioprine is known to cause alopecia and bone marrow suppression in patients with TPMT enzyme deficiency. In India, the prevalence of TPMT mutation varies from 1.2- 10%. A new mutation was detected in 2014, NUDT15 whose incidence varies from 8.5-16%. Patients with mutation in both TPMT and NUDT15 develop myelosuppression faster. In our case, alopecia manifested as the first clinical feature of Azathioprine myelosuppression. Physicians need to recognize early clinical clues (alopecia) to avoid the impending development of myelosuppression and to look for …

Management Of Extracranial Schwannomas In Head And Neck Region - An Observational Study, Sambit Shubham Behera, Krishna Arpita Sahoo, Chinmaya Sundar Ray, Shreyas V, Nandigam Nithin Kumar

Digital Journal of Clinical Medicine

ABSTRACT

Background: Schwannomas, benign tumors arising from Schwann cells, often manifest as slow-growing lesions in the peripheral nerve sheath. While typically asymptomatic, they can affect cranial and peripheral nerves. Surgical excision is the primary treatment, but preserving nerve function poses challenges.

Methods: This retrospective study analyzed 12 cases of benign head and neck schwannomas diagnosed at Department of ENT, SCB Medical College, Orissa, India between 2021 and 2023. Data encompassed patient demographics, tumor characteristics, diagnostic methods, surgical approaches, histopathology, and follow-up outcomes. Pre-operative investigations included Fine Needle Aspiration Cytology, Ultrasonography, and imaging.

Results: Predominantly middle-aged and male patients presented with …

A Real World Study Of Adherence To Insulin In Diabetic Humans-Stadium Study, Dipsanker Chatterjee, Subham Das

Digital Journal of Clinical Medicine

Background:

With an ever-increasing prevalence of diabetes, lack of adherence to insulin treatment in even a small percentage of patients is a major issue and can lead to significant burden on the healthcare system. This survey analysis seeks to investigate the insulin adherence patterns to identify the factors associated with medication adherence.

Methodology:

The current cross-sectional survey was conducted among diabetes patients on insulin treatment. A list of questions about insulin adherence was provided to the participants in the study and the responses were recorded. The data was analysed using Graph Pad Prism.

Results:

Around 23.2 and 18.6 % of …

Internet Addiction: A Growing Threat: A Cross-Sectional Among The Undergraduate Medical Students Of Tertiary Care Hospital, Mysuru, Rakesh M, Diksha Goswami, Sunil Kumar D, Shwethashree M

Digital Journal of Clinical Medicine

Background: The internet has quickly become a part of our lives, impacting every part of our existence. Its use has expanded beyond simply being a communication tool and a source of information. The objective of the study is to assess the prevalence of Internet addiction among the Undergraduate medical students of Mysuru.

Methods: This cross-sectional study was conducted among 255 medical students of a Tertiary care Hospital, Mysuru for three months from September 1^st to November 30^th,2023. Data was collected using a semi-structured questionnaire. The semi-structured questionnaire covered details of demographic data and twenty questions of the …

Placenta Accreta Spectrum Disorder As First Trimester Pregnancy Termination Complication; Case Series, Sindhu Kumari, Poornima M

Digital Journal of Clinical Medicine

Placenta Accreta Spectrum (PAS) disorder is rare (2% according to ACOG) condition of pregnancy when the placenta grows deeply into myometrium. This leads to failure of placenta to separate normally from myometrium after delivery and leads to massive hemorrhage. The PAS is classified as PA (Placenta Accreta), PI (Placenta Increta) and PP ( Placenta Percreta), on basis of depth of trophoblastic invasion. Increase in no. of cesarean sections, increasing the incidence of PAS. Cesarean scar on uterus promotes placental tissue to invade deeply in subsequent pregnancy. Antenatal scanning and color imaging can detect PAS, at a very early stage. Here …

Gender Equality– A Sustainable Development Goal In Progress At A Medical College And Hospital In South India, Mr. Manoj S M, Kusuma Kasapura Shivashankar, Suma M. Natraj, Praveen Kulkarni

Digital Journal of Clinical Medicine

Background: Gender Equality is one of the most important SDG and attaining it will ensure a peaceful, prosperous and a balanced world with equal opportunities for both women and men. The Indian scenario in the field of women education has changed with mindset of most parents undergoing a paradigm shift and many girls are encouraged to attend schools, colleges and women are allowed to work. Considering the above shift, our study intended to find out if the same was true and SDG-5, Gender Equality was attained or in progress at our medical college and hospital and hence the study.

Methods: …

The Balm Framework Of Clinical Excellence: An Adoptable Model For Sub-Saharan Africa., Taoreed Adegoke Azeez

Digital Journal of Clinical Medicine

Clinical excellence is the ability to provide rigorous, evidence-based, and rewarding care to the right patients. The BALM (brilliance, attitude, leadership, and materials) framework is a novel model for adjudicating clinical excellence. There are a few models and frameworks for evaluating clinical excellence, but each has its flaws and does not consider the peculiarities of economically-challenged regions such as sub-Saharan Africa. Coincidentally, such low-resource areas have an urgent need for a framework to assess clinical excellence because of their low health-related indices. The five-step mode of professional excellence is a well-recognised tool and was the model upon which the BALM …

Alkaptonuria Presenting With Back Pain: A Diagnostic Dilemma, Arnav Salar, Dyuksha Arora, Mahabaleshwar Mamadapur

Digital Journal of Clinical Medicine

Alkaptonuria is a rare inborn error of metabolism due to a deficiency of homogentisate 1,2 dioxygenase, resulting in homogentisic acid accumulation in tissues. It is characterised by homogentisic aciduria, ochronosis, and arthritis. We hereby discuss a 46-year-old male who presented with progressive lower back pain and polyarthralgia for ten years, initially diagnosed as ankylosing spondylitis. Characteristic skin pigmentation, ochronosis, and radiological findings led to the correct diagnosis of alkaptonuria. This case highlights the importance of considering alkaptonuria as a differential diagnosis for chronic back pain and arthritis, mainly when sacroiliac joints are spared, and ochronosis is present. While no cure …

Knowledge, Attitudes, And Practices Among Health Care Professionals In A Tertiary Care Teaching Hospital, Mysuru, Rakesh M, Dr Sunil Kumar D, Dr Shwethashree M, Kodeeswaran M, Aradhya M. Gowda

Digital Journal of Clinical Medicine

ABSTRACT

Background: Biomedical waste (BMW) refers to waste generated during the diagnosis, treatment, or immunization of humans or animals, posing risks to health and the environment if not managed properly. Proper knowledge, attitudes, and practices (KAP) among healthcare professionals are essential for effective BMW management. This study assessed the KAP of healthcare workers regarding BMW in a tertiary care teaching hospital.

Methods: A cross-sectional study was conducted among 149 healthcare professionals at a private medical college from April 10 to May 10, 2023. Participants were selected using simple random sampling, including consultants, postgraduates, interns, nursing staff, laboratory technicians, and housekeeping …

Exploring The Elective Experience: A Review Of The "Adult Psychiatry" Elective At A Medical College, Dyuksha Arora, Kishor M

Digital Journal of Clinical Medicine

This review delves into the motivations, experiences, and perceived advantages and disadvantages of undertaking the 'Adult Psychiatry' as an elective at JSS Medical College. Experiences from four students, two from the 2019 batch and two from the 2020 batch, provide a comprehensive overview of their elective.

A Rare Case Of Early Onset Vitamin B6 Dependent Epilepsy, Rohit Thorat, Qudsiya Ansari, Kailas Randad, Vinaya Singh, Akash Sarkate

Digital Journal of Clinical Medicine

Pyridoxine dependent epilepsy (PDE) is a rare seizure disorder which manifests in neonatal period, but can be manifested in early infancy also. Seizures are seen in the first month of life in the classical form, but in the atypical form they don't show up until later in life, sometimes as late as three years old. It has an autosomal recessive inheritance caused by mutation in ALDH7A1 gene, causing deficiency of alpha-aminoadepic semialdehyde dehydrogenase commonly known as antiquitin (ATQ). Its deficiency leads to accumulation of metabolites, which causes deficiency of functional form of pyridoxine. The seizures are non-responding to antiepileptic medications, …

Clozapine And Modified Electroconvulsive Therapy (M-Ect) In Treatment Resistant Schizophrenia (Trs) – A Case Report, Kareena Arora, Kishor M, Murali M R, Suhas K Mr

Digital Journal of Clinical Medicine

Schizophrenia is psychiatric disorder affecting less than 1% of population that can be devastating, characterized by positive, negative and cognitive symptoms. This can lead to significant functional impairment. Despite intensive and ongoing research, outcomes from best-practice treatment are often suboptimal. Unfortunately, not all the patients respond to antipsychotic medications. Overall estimates suggest that one-fifth to one-half of patients have treatment resistant schizophrenia (TRS).

TRS include failure sequential trial of two different antipsychotics with sufficient dose, duration and adherence as a minimum criterion. TRS represents major clinical challenge.

Clozapine is the only drug approved for TRS as it is the drug …

Osteochondroma At Unusual Location Causing Deformity (Metacarpal): A Rare Case Report, Pranshu S. Panwar, Prakash M, Purushothama Sastry, Gurumurthy B, Punith N, Ravi H. S

Digital Journal of Clinical Medicine

INTRODUCTION: Osteochondroma is benign tumors of bone which usually occurs in long bones. Common locations proximal tibia, distal femur and proximal humerus. Metacarpals are rarely affected.

Case Report: Patient, 10 years old/boy came to JSS hospital with complaint of swelling and deformity over left hand for 2 years. After relevant clinical examination and radiological investigation, patient was diagnosed with synostoses of 5^th metacarpal with 4^th metacarpal. Patient was taken up deformity correction and intra-op patient was diagnosed as exostoses of 5^th metacarpal. Post-op radiograph was taken. After 1-month ex-fix was removed. After 4 months follow up, deformity …

Internet Gaming Disorders Amongst Medical Undergraduates In Tamil Nadu, India - A Cross Sectional Study, Rejee Sneha Ebanezer, Sumedha K, Murugan V

Digital Journal of Clinical Medicine

Abstract

Background: Internet Gaming Disorder (IGD) or internet-related gaming addictions are characterized by severely impaired control over gaming affecting routine activities, followed by several psychological, physical and social issues. Budding medical undergraduates who are future health professionals might have positive effects on their studies and career goals when saved from internet gaming addictions. Hence, this study aimed to identify the proportion of medical undergraduate students and interns with internet gaming disorders studying in a private medical college and tertiary care hospital.

Setting: A tertiary care Hospital and Medical College, Tamil Nadu, India

Study design: Cross – sectional study.

Participants: Medical …

High Stakes And Hidden Risks: A Case Series On Pathological Gambling In Context With Affective Disorders And Substance Abuse, Avni Gupta, Namita Deka, Mahesh Kumar

Digital Journal of Clinical Medicine

Background: Pathological gambling is a non–substance-related addictive disorder, characterized by persistent preoccupation with gambling, impaired control, and continuation despite negative consequences. It is associated with financial losses, social and occupational dysfunction, and psychiatric comorbidities, including affective and substance use disorders. Although international prevalence estimates range from 1–2%, research in India remains limited, particularly with the rise of online gambling.

Methods: We report a case series of three individuals presenting to a tertiary-care psychiatry outpatient department with pathological gambling. Clinical assessments included detailed psychiatric evaluation, mental status examination, and psychometric assessments using the Hamilton Anxiety Rating Scale (HAM-A), Beck Depression Inventory …