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Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons

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A Brief Overview Of Triple A Syndrome, Jamaal Khan 2023 Nova Southeastern University

A Brief Overview Of Triple A Syndrome, Jamaal Khan

Mako: NSU Undergraduate Student Journal

Triple A Syndrome, also known as AAA Syndrome, is a rare autosomal recessive disorder caused by any mutation in the AAAS gene on chromosome 12q13, whose main function is to code for the WD-repeat family regulatory protein, ALADIN. It typically occurs as a group of diseases that are characterized by alacrima, Addison's disease, and achalasia. Alacrima can be defined by a decrease in the amount of tears produced while achalasia is nerve damage in the esophagus that can cause difficulty swallowing. Lastly, Addison's disease is the insufficient production of cortisol and aldosterone produced by the adrenal cortex. There is no …


Clinical Utility Of Neutrophil To Lymphocyte Ratio In Sickle Cell Disease With Vaso-Occlusive Crisis, Satish Maharaj, Simone Chang 2023 Hematology & Oncology, Internal Medicine, Texas Tech University

Clinical Utility Of Neutrophil To Lymphocyte Ratio In Sickle Cell Disease With Vaso-Occlusive Crisis, Satish Maharaj, Simone Chang

Hematology/Oncology and Stem Cell Therapy

Background and objectives: The neutrophil-to-lymphocyte ratio represents a universally accessible value that correlates with inflammation and prognosis in several disease states; however, the role of this biomarker in sickle cell disease remains poorly explored. Hence, the objective of the present study was to determine its potential clinical utility in patients with sickle cell disease.

Patients: Herein, we retrospectively reviewed 143 patients with sickle cell disease who presented to the emergency department with fever and painful vaso-occlusive crisis.

Results: The examined cohort had a prevalence of 11% confirmed bacterial infection, with approximately two-thirds reporting the use of hydroxyurea. The neutrophil-to-lymphocyte ratio …


Educating School Nurses To Improve Bowel Continence In Children With Spina Bifida, McKinley J. Waugh, Tracy L. Brewer, Lisa Wagoner 2022 University of Tennessee, Knoxville

Educating School Nurses To Improve Bowel Continence In Children With Spina Bifida, Mckinley J. Waugh, Tracy L. Brewer, Lisa Wagoner

Graduate Publications and Other Selected Works - Doctor of Nursing Practice (DNP)

Children born with spina bifida, a neural tube defect, can have associated loss of bowel control resulting in bowel incontinence. The National Patient Spina Bifida Registry found that 87% of those living with spina bifida had bowel incontinence, and less than 30% were bowel continent (Sawin et al., 2015; Wiener et al., 2017). Unfortunately, providers may never start a child living with spina bifida on a bowel management program. Evidence suggests that children with spina bifida should begin a bowel management program early, using a stepwise approach. School nurses, who interact with children living with spinal bifida while attending school, …


Cystic Fibrosis Transmembrane Conductance Regulator Modulation May Improve Intestinal Inflammation In Adults With Cystic Fibrosis, Lauren G. Culver 2022 Wayne State University

Cystic Fibrosis Transmembrane Conductance Regulator Modulation May Improve Intestinal Inflammation In Adults With Cystic Fibrosis, Lauren G. Culver

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report using:

Ooi CY, Syed SA, Rossi L, Garg M, Needham B, Avolio J, Young K, Surette MG, Gonska T. Impact of CFTR modulation with Ivacaftor on Gut Microbiota and Intestinal Inflammation. Sci Rep. 2018 Dec 13;8(1):17834. https://doi.org/10.1038/s41598-018-36364-6

for a patient with cystic fibrosis experiencing small bowel obstruction.


Should Health Systems Share Genetic Findings With At-Risk Relatives When The Proband Is Deceased? Interviews With Individuals Diagnosed With Lynch Syndrome, Jessica Ezzell Hunter, Jennifer L. Schneider, Alison J. Firemark, James V. Davis, Sara Gille, Pamala A. Pawloski, Su-Ying Liang, Victoria Schlieder, Alanna Kulchak Rahm 2022 RTI International

Should Health Systems Share Genetic Findings With At-Risk Relatives When The Proband Is Deceased? Interviews With Individuals Diagnosed With Lynch Syndrome, Jessica Ezzell Hunter, Jennifer L. Schneider, Alison J. Firemark, James V. Davis, Sara Gille, Pamala A. Pawloski, Su-Ying Liang, Victoria Schlieder, Alanna Kulchak Rahm

Journal of Patient-Centered Research and Reviews

Purpose: Genetic information has health implications for patients and their biological relatives. Death of a patient before sharing a genetic diagnosis with at-risk relatives is a missed opportunity to provide important information that could guide interventions to minimize cancer-related morbidity and mortality in relatives.

Methods: We performed semi-structured interviews with individuals diagnosed with Lynch syndrome at 1 of 4 health systems to explore their perspectives on whether health systems should share genetic risk information with relatives following a patient’s death. An inductive, open-coding approach was used to analyze audio-recorded content, with software-generated code reports undergoing iterative comparative analysis by a …


The Prevalence Of Cerebral Palsy In Children Aged 0-6 Years In China:A Meta-Analysis, Yuxia Feng, Wei Peng, Xin Li, Shunbo Yang, Shiyu Liu, Shuqing Lu 2022 1.Rehabilitation Medicine of Jiamusi University,Jiamusi 154003,China 2.Children Neural Rehabilitation Laboratory of Jiamusi University,Jiamusi 154003,China

The Prevalence Of Cerebral Palsy In Children Aged 0-6 Years In China:A Meta-Analysis, Yuxia Feng, Wei Peng, Xin Li, Shunbo Yang, Shiyu Liu, Shuqing Lu

General Practice in China

BackgroundAs one of the main causes of children's disability, cerebral palsy (hereinafter referred to as CP) affects the improvement of our population quality. At present, the results of researches on the prevalence of children suffering from CP in our country are quite different, and there is a lack of epidemiological studies based on larger sample sizes and the current prevalence of CP. ObjectiveTo learn about the prevalence of CP in children aged 0~6 years in China. MethodsLiteratures on the prevalence of CP in children aged 0~6 years in China were retrievaled through computer in PubMed, Web of Science, The Cochrane …


Comprehensive Care To Improve Quality Of Life: A Case Of Childhood Adrenoleukodystrophy, Miraal S. Dharamsi, Adrian A. Mejia, Cecilia De Vargas 2022 Texas Tech University Health Sciences Center El Paso

Comprehensive Care To Improve Quality Of Life: A Case Of Childhood Adrenoleukodystrophy, Miraal S. Dharamsi, Adrian A. Mejia, Cecilia De Vargas

HCA Healthcare Journal of Medicine

The childhood cerebral form of adrenoleukodystrophy (ALD) causes rapid demyelination of cerebral white matter and is clinically characterized by hyperactivity, emotional changes, and poor school performance, as well as progressive cognitive, visual, auditory, speech, and motor decline. While aggressive behavior is a known complication of ALD, treatment of the disease is limited. Moreover, behavioral management is not well described in the available literature, particularly from a psychiatric standpoint. In this case presentation, the patient’s parents reported significant agitation and aggression, which may have been secondary to verbal deficits, in addition to the general neuropathological implications of this disease. Although this …


Emicizumab-Kxwh: A Critical Review, Kiera O'Leary 2022 Munster Technological University, Rossa Ave, Bishopstown, Cork, Ireland, T12 P928

Emicizumab-Kxwh: A Critical Review, Kiera O'Leary

International Undergraduate Journal of Health Sciences

The first descriptions of haemophilia A were reported in the second century AD, with the first modern description by John Conrad Otto in 1803. Historically, the natural history of haemophilia A was associated with very high rates morbidity and mortality, often following trivial accidents. Although treatment options for haemophilia A have been revolutionised in recent decades, haemophilia A remains a hereditary disease of concern and factor replacement products remain the mainstay of treatment.

As such, patients with haemophilia can carry huge burdens, particularly when a complication such as a FVIII inhibitor is present. A recently approved novel therapeutic, Emicizumab-kxwh, has …


Thromboelastography Profiles Of Hemophilia A Patients On Emicizumab, Daniel J. VanZweden, Meera Chitlur, Charity J. Stadler 2022 Wayne State University

Thromboelastography Profiles Of Hemophilia A Patients On Emicizumab, Daniel J. Vanzweden, Meera Chitlur, Charity J. Stadler

Medical Student Research Symposium

Emicizumab is a new monoclonal antibody developed to dtreat people with Hemophilia A, especially those with antibodies. However, breakthrough bleeding can still occur in patients taking Emicizumab. TEG is a global coagulation assay which measures coagulability through viscosity. This study describes the use of tissue factor activated TEG in measuring bleeding profiles in patients taking Emicizumab. The goal of this prospective study is to determine if TEG can be used, which variables of TEG might be useful, and how much more useful it is than the current standard, aPtt. Findings include a 25% increased R time and 24% increased K …


Preliminary Analysis Of Transcriptomic Variations In Esrp1/Sox2 Double Transgenic Mouse Embryo Facial Prominences In Search Of Esrp1 Targets Responsible For Cleft Lip And/Or Palate Pathogenesis, Grace Lee 2022 University of Pennsylvania

Preliminary Analysis Of Transcriptomic Variations In Esrp1/Sox2 Double Transgenic Mouse Embryo Facial Prominences In Search Of Esrp1 Targets Responsible For Cleft Lip And/Or Palate Pathogenesis, Grace Lee

Dental Theses

Cleft lip and/or palate (CL/P) is a highly prevalent craniofacial deformation worldwide, that is challenging to treat. Despite the series of reconstructive surgeries, orthodontic treatments, and functional rehabilitation therapies, patients can not fully recover from the esthetic and functional defect they were born with. A paradigm-shift in treatment approach is needed to lift the medical, psychosocial, and financial burdens from the patients and their families, one that would intercept the malformation in utero and recapitulate normal development of the lip and the palate before birth. A necessary first step towards this goal is to decipher the intricate molecular mechanisms underlying …


Fortuitous Diagnosis Of Total Anomalous Pulmonary Venous Return In A Newborn With Hypoglycemia, Joseph Maes, Terence Zach 2022 Creighton University

Fortuitous Diagnosis Of Total Anomalous Pulmonary Venous Return In A Newborn With Hypoglycemia, Joseph Maes, Terence Zach

Child Health Research Institute Pediatric Research Forum

No abstract provided.


A Hidden Cause For Electrolyte Derangement In The Ed: Gitelman Syndrome, Alexis Dunn, James Espinosa, Alan Lucerna, Kevin Dwyer 2022 Rowan University

A Hidden Cause For Electrolyte Derangement In The Ed: Gitelman Syndrome, Alexis Dunn, James Espinosa, Alan Lucerna, Kevin Dwyer

Stratford Campus Research Day

Electrolyte derangements are a common finding in the emergency department, whether incidental or the cause for presenting symptoms. Gitelman syndrome (GS) can be the cause for recurrent hypokalemia and hypomagnesemia. While often diagnosed when the patient is young, a clinician should keep this on the differential when seeing repeated visits with electrolyte deficiencies and treating them. Here we discuss a case of how Gitelman syndrome has presented in the ED and what to learn from it.


Case Report: How A Vallecular Cyst Could Have Become An Airway Emergency, Adam Kandil, Robin Lahr, Andrew Caravello 2022 Rowan University

Case Report: How A Vallecular Cyst Could Have Become An Airway Emergency, Adam Kandil, Robin Lahr, Andrew Caravello

Stratford Campus Research Day

Vallecular cysts, also known as epiglottic mucous retention cysts are known to be generally self-limiting laryngeal lesion. They can however also be associated with airway obstruction, and dysphagia in infants. In adults, they are usually asymptomatic, and usually incidentally diagnosed. At times they are diagnosed during rapid sequence intubation, as they may contribute to endotracheal intubation difficulty. Moreover, there is question as to the correlation between vallecular cysts and the incidence of acute epiglottitis, as a vallecular cyst may become infected and cause a localized expansion of inflammation and infection. This expansion from the vallecula progresses to epiglottis.


Paradoxical Dat In A Term Newborn With Physiological Jaundice, Abiram Sivanandam, Tomas Rotschild 2022 Rowan University

Paradoxical Dat In A Term Newborn With Physiological Jaundice, Abiram Sivanandam, Tomas Rotschild

Stratford Campus Research Day

The Direct Antigen Test (DAT) is used to find out if a newborn has maternally-produced antibodies against the newborn’s red blood cells. We discuss the case of a term newborn male with an O+ blood type born to a mother whose blood type is A+. As a part of routine screening, DAT of umbilical cord blood was obtained, which resulted positive. While the neonate had jaundice, the overall clinical picture pointed more toward neonatal physiological jaundice rather than a potential hemolytic anemia expected with a positive DAT. This discrepancy prompted us to review literature to explain our findings.


A Novel Approach To Triosephosphate Isomerase Deficiency, Kyra McCarty 2022 Children's Mercy Hospital

A Novel Approach To Triosephosphate Isomerase Deficiency, Kyra Mccarty

Research Days

Background: Triosephosphate isomerase deficiency (TPID) is a glycolytic pathway enzymopathy causing hemolytic anemia and neurologic dysfunction. TPID is caused by mutations in the TPI1 gene. These patients experience severe hemolytic anemia in infancy followed by progressive neurodegeneration. Diagnosis of TPID is made by measuring decreased TPI enzyme activity elevated dihydroxyacetone phosphate (DHAP) levels in the blood. The diagnosis is confirmed by molecular genetic testing. Neurological involvement typically manifests between 6 and 24 months of age, causing progressive motor dysfunction. Chronic axonal neuropathy is often present on nerve biopsy, and peripheral neuropathy is evident on electrophysiologic studies. Splenectomy and blood transfusions …


Sigirr Variants Identified In Nec Infants Exaggerate Toll-Like Receptor Mediated Inflammation, Jennie Godwin 2022 Children's Mercy Hospital

Sigirr Variants Identified In Nec Infants Exaggerate Toll-Like Receptor Mediated Inflammation, Jennie Godwin

Research Days

Background: A key event underlying uncontrolled inflammation in necrotizing enterocolitis (NEC) is pathologic activation of Toll-like receptors (TLR). TLR4 recognizes lipopolysaccharide (LPS), from Gramnegative bacteria, and TLR2 peptidoglycans (PAM3Csyk4, PAM), from Gram-positive bacteria. TLR4 and TLR2 signaling events induce an inflammatory cascade through NF-kB, a cytokine inducing transcription factor. Single-immunoglobulin interleukin-1-related receptor (SIGIRR) is a major negative regulator of TLR-mediated NF-kB activation. Previous work from our lab suggests that loss of function in SIGIRR may predispose to NEC. Our lab has identified four variants in NEC patients predicted to alter function of SIGIRR. We hypothesized that identified SIGIRR variants will …


Development Of A Nurse Practitioner Driven Program For Cardiology Providers To Increase Knowledge And Awareness Of Neurodevelopmental Assessment Needs In Children With Congenital Heart Defects, Michele Readman 2022 University of San Diego

Development Of A Nurse Practitioner Driven Program For Cardiology Providers To Increase Knowledge And Awareness Of Neurodevelopmental Assessment Needs In Children With Congenital Heart Defects, Michele Readman

Doctor of Nursing Practice Final Manuscripts

Children diagnosed with congenital heart defects are at increased risk for neurodevelopmental delays. Timely referral of patients to a neurodevelopmental clinic for initial evaluation and referrals to support services can improve learning outcomes, provide early intervention for neurodevelopmental disorders, and mediate factors affecting low quality of life. Nationally, a substantial proportion of pediatric cardiologists are not referring children for neurodevelopmental evaluation. A review of patient referrals to a Cardiac Neurodevelopmental Clinic within an urban children’s hospital demonstrated an opportunity to improve provider awareness and knowledge of referral recommendations. Using the Iowa Model of Evidence-Based Practice to Promote Quality Care, an …


Increasing Awareness Of Hereditary Fructose Intolerance: An Evidence-Based Practice Implementation Project, Jacqueline M. Bridge 2022 Sacred Heart University

Increasing Awareness Of Hereditary Fructose Intolerance: An Evidence-Based Practice Implementation Project, Jacqueline M. Bridge

DNP Projects

Background: Hereditary Fructose Intolerance (HFI) is an inborn error of metabolism which results in the absence of an effective Aldolase B enzyme. Without this enzyme, ingestion of fructose and metabolic precursors leads to acute illness, multiorgan damage, and possible death. The increased presence of these sugars results in earlier onset of symptoms and more difficulty for those with HFI.

Purpose: The project’s aim is to increase awareness of HFI in healthcare providers using a learning module and assessments of knowledge at three different points in time.

Methods: The IOWA model for evidence-based practice projects was applied during the development and …


When Problems Become Solutions: Harnessing The Osteogenic Capacity Of Disease-Causing Stem Cells To Repair Bone Fractures, Mehreen Pasha 2022 University of Connecticut

When Problems Become Solutions: Harnessing The Osteogenic Capacity Of Disease-Causing Stem Cells To Repair Bone Fractures, Mehreen Pasha

University Scholar Projects

While we often perceive disease as negative, there is potential to engineer seemingly negative biological phenomena into therapeutics to treat a variety of human illnesses. Fibrodysplasia ossificans progressiva (FOP) is a genetic disorder involving uncontrolled, widespread, extraskeletal bone growth, or heterotopic ossification (HO). In FOP patients, stem cells called fibro/adipogenic progenitors (FAPs) follow an abnormal, osteogenic pathway. In the present study, we investigate whether we can adapt these Acvr1 mutant FAPs, which are exceptional at producing bone, to repair bone fractures in otherwise normal patients. The primary aims of this study are (1) to devise and optimize a novel method …


When Problems Become Solutions: Harnessing The Osteogenic Capacity Of Disease-Causing Stem Cells To Repair Bone Fractures, Mehreen Pasha 2022 University of Connecticut

When Problems Become Solutions: Harnessing The Osteogenic Capacity Of Disease-Causing Stem Cells To Repair Bone Fractures, Mehreen Pasha

Honors Scholar Theses

While we often perceive disease as negative, there is potential to engineer seemingly negative biological phenomena into therapeutics to treat a variety of human illnesses. Fibrodysplasia ossificans progressiva (FOP) is a genetic disorder involving uncontrolled, widespread, extraskeletal bone growth, or heterotopic ossification (HO). In FOP patients, stem cells called fibro/adipogenic progenitors (FAPs) follow an abnormal, osteogenic pathway. In the present study, we investigate whether we can adapt these Acvr1 mutant FAPs, which are exceptional at producing bone, to repair bone fractures in otherwise normal patients. The primary aims of this study are (1) to devise and optimize a novel method …


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