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Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons

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All Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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Relationships Between Age And White Matter Integrity In Children With Phenylketonuria, Erika M. Wesonga 2015 Washington University in St. Louis

Relationships Between Age And White Matter Integrity In Children With Phenylketonuria, Erika M. Wesonga

Arts & Sciences Electronic Theses and Dissertations

Objective: Phenylketonuria (PKU) is a hereditary metabolic disorder associated with cognitive compromise. Diffusion tensor imaging (DTI) has allowed detection of poorer microstructural white matter integrity in children with PKU, with decreased mean diffusivity (MD) in comparison with healthy children. However, very little research has been conducted to examine the trajectory of white matter development in this population. The present study investigated potential differences in the developmental trajectory of MD between children with early- and continuously-treated PKU and healthy children across a range of brain regions.

Methods: Children with PKU (n = 31, mean age = 12.2 years) were recruited through metabolic ...


Ankyrin-B And Mtor Complex 1 In The Regulation Of Electrical Activities In The Heart, Henry C. Wu, Henry C. Wu 2015 The University of Texas Graduate School of Biomedical Sciences at Houston

Ankyrin-B And Mtor Complex 1 In The Regulation Of Electrical Activities In The Heart, Henry C. Wu, Henry C. Wu

The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences Dissertations and Theses (Open Access)

The mammalian target of rapamycin complex 1 (mTORC1) activity is paramount in the regulation of electrical activities in the brain and the heart. In the brain, the tumor suppressor gene TSC2 encodes the protein product tuberin that interacts with hamartin to form a heterodimer Tuberous Sclerosis Complex (TSC) that regulates mTORC1. When TSC2 is disrupted, mTORC1 activity becomes dysregulated resulting in abnormal electrical activities in the brain manifesting in the form of epileptic seizures. In the heart, mTORC1 activity is triggered by a sustained increase in hemodynamic pressure causing the heart to electrically remodel. A likely candidate serving as the ...


Scarnas Regulate Splicing And Vertebrate Heart Development., Prakash Patil, Nataliya Kibiryeva, Tamayo Uechi, Jennifer A. Marshall, James E. O'Brien, Michael Artman, Naoya Kenmochi, Douglas C. Bittel 2015 Children's Mercy Hospital

Scarnas Regulate Splicing And Vertebrate Heart Development., Prakash Patil, Nataliya Kibiryeva, Tamayo Uechi, Jennifer A. Marshall, James E. O'Brien, Michael Artman, Naoya Kenmochi, Douglas C. Bittel

Manuscripts, Articles, Book Chapters and Other Papers

Alternative splicing (AS) plays an important role in regulating mammalian heart development, but a link between misregulated splicing and congenital heart defects (CHDs) has not been shown. We reported that more than 50% of genes associated with heart development were alternatively spliced in the right ventricle (RV) of infants with tetralogy of Fallot (TOF). Moreover, there was a significant decrease in the level of 12 small cajal body-specific RNAs (scaRNAs) that direct the biochemical modification of specific nucleotides in spliceosomal RNAs. We sought to determine if scaRNA levels influence patterns of AS and heart development. We used primary cells derived ...


Screening For G6pd Deficiency Among Neonates With Neonatal Jaundice Admitted To Tertiary Care Center: A Need In Disguise, Kishwer Kumar, Arjumand Sohaila, Shiyam Sunder Tikmani, Iqtidar Ahmed Khan, Anila Zafar 2015 Aga Khan University

Screening For G6pd Deficiency Among Neonates With Neonatal Jaundice Admitted To Tertiary Care Center: A Need In Disguise, Kishwer Kumar, Arjumand Sohaila, Shiyam Sunder Tikmani, Iqtidar Ahmed Khan, Anila Zafar

Department of Paediatrics and Child Health

This study was conducted to determine the association of Glucose-6-Phosphate Dehydrogenase (G-6-PD) deficiency among neonates admitted with jaundice at the neonatal intensive care unit, well baby nursery and neonatal step down nursery of the Aga Khan University Hospital, Karachi, Pakistan, from January to June 2010. A total of 205 neonates following the selection criteria were included. All selected neonates have their venous blood drawn, saved in EDTA bottle and sent to laboratory of The Aga Khan University Hospital (AKUH). The laboratory results of whether G-6-PD deficiency was present or not was recorded in the proforma. G-6-PD was deficient in 19 ...


Malignant Hyperthermia, Hailey Jones 2015 Otterbein University

Malignant Hyperthermia, Hailey Jones

Nursing Student Class Projects (Formerly MSN)

According to the Malignant Hyperthermia Association of the United States (2015), “Malignant hyperthermia (MH) is a potentially fatal, inherited disorder usually associated with the administration of certain general anesthetics and/or the drug succinylcholine.” Malignant hyperthermia has been presented to me during hospital skills days over the past year due to the increased need for knowledge regarding this topic. I choose this topic because I find it interesting due to the fact that I could encounter this in the remainder of my days in the intensive care unit, but most importantly because I will be dealing with these drugs on ...


Marfan Syndrome In Athletes, Chelsey Hastings 2015 Otterbein University

Marfan Syndrome In Athletes, Chelsey Hastings

Nursing Student Class Projects (Formerly MSN)

Genetic disorders are widely misunderstood in our society and can lead to early mortality. Marfan syndrome (MFS) is a genetic disorder that affects connective tissue (Harris, Croce, & Tian, 2014). Antoine Marfan, a French pediatrician, first described this disease in 1896 (Elshershari & Harris, 2014). MFS can manifest in several different organ systems. The cardiovascular complications of aortic dilation and dissection often account for the morbidity associated with this disease (Harris et al., 2014). Understanding the inheritance, pathophysiology, and treatment of MFS is important for the advanced practice nurse (APN). Prevalence of the disease is approximately two per 10,000 individuals, but ...


Nonimmune Hydrops Fetalis, Heather Walker 2015 Otterbein University

Nonimmune Hydrops Fetalis, Heather Walker

Nursing Student Class Projects (Formerly MSN)

Hydrops fetalis is an excessive accumulation of fluid within the fetal extravascular compartments and body cavities generally characterized by: •placental enlargement •ascites •pericardial effusions •pleural effusions (Bellini, 2014, p. 1082). Nonimmune hydrops fetalis (NIHF) develops as a result of one or more nonimmune factors, distinguishing it from immune hydrops fetalis that results from a maternal antigen-body fetal antigen-mediated red blood cell hemolysis (Randenberg, 2010, p. 281).


Understanding Hereditary Hemochromatosis, Kari Davidson 2015 Otterbein University

Understanding Hereditary Hemochromatosis, Kari Davidson

Nursing Student Class Projects (Formerly MSN)

One of the most common genetic diseases, hereditary hemochromatosis is a disruption of iron regulation in the body. Its geographic distribution is worldwide, but it is most common in those of northern European origin. (Roach and Di Palma, 2012). Occurrence is rare in other racial or ethnic groups. (Emanuele, Tuason, & Edwards, 2014). Symptoms are due to significant iron overload, normally as a result of HFE gene mutation. (Centers for Disease Control and Prevention, 2010). The HFE gene plays an important role in regulating iron absorption in the GI tract, transport, and storage. (Emanuele, et al., 2014). If excess iron accumulates in vital organs, cirrhosis, bone and joint disease, diabetes, other endocrine disorders and heart disease can result. (Crownover & Covey, 2013). Although penetrance (exhibition of phenotype, or clinical symptoms) varies in those with the genetic mutation, those who have the HFE mutation are much more genetically susceptible to iron overload as it manifests in hereditary hemochromatosis. Patients can present with nonspecific complaints such as weakness, fatigue, changes in mental status, and arthralgia, so hereditary hemochromatosis can be missed or misdiagnosed if iron study testing is not performed. The most common route to diagnosis is through routine office visits or investiation of common complaints. (Brissot, Ball, Rofail, Cannon, & We Jin, 2011). In some cases, but not all, genetic testing may be appropriate. Other forms of iron overload must be considered as well when making a differential diagnosis. Hereditary hemochromatosis has an autosomal recessive pattern; a carrier father and carrier mother have a 1 in 4 chance of having a homozygous child and a 50% chance of having a heterozygous (carrier) child. About 75% of homozygotes have expression of the disease with elevated serum ferritin levels, although there is some controversy as to the proportion ...


Hla-Dqa1 And Plcg2 Are Candidate Risk Loci For Childhood-Onset Steroid-Sensitive Nephrotic Syndrome., Rasheed A. Gbadegesin, Adebowale Adeyemo, Nicholas J A Webb, Larry A A. Greenbaum, Asiri Abeyagunawardena, Shenal Thalgahagoda, Arundhati Kale, Debbie Gipson, Tarak Srivastava, Jen-Jar Lin, Deepa Chand, Tracy E. Hunley, Patrick D. Brophy, Arvind Bagga, Aditi Sinha, Michelle N. Rheault, Joanna Ghali, Kathy Nicholls, Elizabeth Abraham, Halima S. Janjua, Abiodun Omoloja, Gina-Marie Barletta, Yi Cai, David D. Milford, Catherine O'Brien, Atif Awan, Vladimir Belostotsky, William E. Smoyer, Alison Homstad, Gentzon Hall, Guanghong Wu, Shashi Nagaraj, Delbert Wigfall, John Foreman, Michelle P. Winn, Mid-West Pediatric Nephrology Consortium 2015 Children's Mercy Hospital

Hla-Dqa1 And Plcg2 Are Candidate Risk Loci For Childhood-Onset Steroid-Sensitive Nephrotic Syndrome., Rasheed A. Gbadegesin, Adebowale Adeyemo, Nicholas J A Webb, Larry A A. Greenbaum, Asiri Abeyagunawardena, Shenal Thalgahagoda, Arundhati Kale, Debbie Gipson, Tarak Srivastava, Jen-Jar Lin, Deepa Chand, Tracy E. Hunley, Patrick D. Brophy, Arvind Bagga, Aditi Sinha, Michelle N. Rheault, Joanna Ghali, Kathy Nicholls, Elizabeth Abraham, Halima S. Janjua, Abiodun Omoloja, Gina-Marie Barletta, Yi Cai, David D. Milford, Catherine O'Brien, Atif Awan, Vladimir Belostotsky, William E. Smoyer, Alison Homstad, Gentzon Hall, Guanghong Wu, Shashi Nagaraj, Delbert Wigfall, John Foreman, Michelle P. Winn, Mid-West Pediatric Nephrology Consortium

Manuscripts, Articles, Book Chapters and Other Papers

Steroid-sensitive nephrotic syndrome (SSNS) accounts for >80% of cases of nephrotic syndrome in childhood. However, the etiology and pathogenesis of SSNS remain obscure. Hypothesizing that coding variation may underlie SSNS risk, we conducted an exome array association study of SSNS. We enrolled a discovery set of 363 persons (214 South Asian children with SSNS and 149 controls) and genotyped them using the Illumina HumanExome Beadchip. Four common single nucleotide polymorphisms (SNPs) in HLA-DQA1 and HLA-DQB1 (rs1129740, rs9273349, rs1071630, and rs1140343) were significantly associated with SSNS at or near the Bonferroni-adjusted P value for the number of single variants that were ...


Molecular Mechanisms Linking Amino Acid (Leucine) Deprivation To Igfbp-1 Hyperphosphorylation In Fetal Growth Restriction, Niyati M. Malkani 2015 The University of Western Ontario

Molecular Mechanisms Linking Amino Acid (Leucine) Deprivation To Igfbp-1 Hyperphosphorylation In Fetal Growth Restriction, Niyati M. Malkani

Electronic Thesis and Dissertation Repository

In this study, we explore the molecular mechanisms linking amino acid (leucine) deprivation to IGFBP-1 hyperphosphorylation in vitro. During pregnancy, a maladaptive fetal response to in utero amino acid deprivation leads to Fetal Growth Restriction (FGR). FGR infants display elevated phosphorylated IGFBP-1, which is associated with decreased IGF-I bioavailability. Leucine deprivation inhibits mechanistic target of rapamycin (mTOR) signaling and stimulates the amino acid response (AAR). Using HepG2 cells, a model for fetal hepatocytes, we demonstrate that in leucine deprivation, the AAR modulates total and phosphorylated IGFBP-1 while mTOR mediates total IGFBP-1 secretion only. We also reveal that protein kinases CK2 ...


Inherited Dock2 Deficiency In Patients With Early-Onset Invasive Infections, Shen-Ying Zhang, Anne Marie Comeau, Jean-Laurent Casanova, Kaan Boztug, Luigi D. Notarangelo 2015 Rockefeller University

Inherited Dock2 Deficiency In Patients With Early-Onset Invasive Infections, Shen-Ying Zhang, Anne Marie Comeau, Jean-Laurent Casanova, Kaan Boztug, Luigi D. Notarangelo

Open Access Publications by UMMS Authors

Background Combined immunodeficiencies are marked by inborn errors of T-cell immunity in which the T cells that are present are quantitatively or functionally deficient. Impaired humoral immunity is also common. Patients have severe infections, autoimmunity, or both. The specific molecular, cellular, and clinical features of many types of combined immunodeficiencies remain unknown. Methods We performed genetic and cellular immunologic studies involving five unrelated children with early-onset invasive bacterial and viral infections, lymphopenia, and defective T-cell, B-cell, and natural killer (NK)-cell responses. Two patients died early in childhood; after allogeneic hematopoietic stem-cell transplantation, the other three had normalization of T-cell ...


Oseltamivir-Warfarin Interaction In Hypoplastic Left Heart Syndrome: Case Report And Review., Jonathan B. Wagner, Susan M. Abdel-Rahman 2015 Children's Mercy Hospital

Oseltamivir-Warfarin Interaction In Hypoplastic Left Heart Syndrome: Case Report And Review., Jonathan B. Wagner, Susan M. Abdel-Rahman

Manuscripts, Articles, Book Chapters and Other Papers

An 8-year-old boy with hypoplastic left heart syndrome with a previous history of thrombosis within the inferior vena cava receiving stable warfarin dosing for anticoagulation was diagnosed with influenza B. He was subsequently placed on oseltamivir therapy according to the Centers for Disease Control and Prevention clinical practice guidelines. During the hospitalization, his international normalized ratio steadily increased to supratherapeutic levels and returned to baseline after discontinuation of oseltamivir therapy. This case represents a drug-drug interaction that has not been previously reported in children or adolescents. An extensive review of the pharmacokinetic and pharmacodynamic literature did not uncover a definitive ...


Evaluating The Effectiveness Of Cranial Molding For Treatment Of Positional Plagiocephaly Using Finite Element Analysis, Maziyar Keshtgar 2015 California Polytechnic State University, San Luis Obispo

Evaluating The Effectiveness Of Cranial Molding For Treatment Of Positional Plagiocephaly Using Finite Element Analysis, Maziyar Keshtgar

Master's Theses

Since the advent of recommendations for placing infants in the supine position during sleep to reduce the incidence of sudden infant death syndrome, clinicians have noted an increase in the frequency of cranial asymmetry due to deformation of suture sections of the infants’ skulls as a result of constant concentrated stress in one area at the back of their head. This specific form of cranial deformation is known as positional plagiocephaly and its rate of occurrence has increased from 0.3% in 8.2% within the past 30 years.

Current treatments and methodologies for preventing and correcting positional plagiocephaly such ...


Hlhs Is Caused By The Up Regulation Of Hif1Α Due To Hypoxia Caused By A Polymorphism In Enos, Tyler J. Bruinsma, Kevin T. Curwick, Leah Ellman, Jared M. Grootwassink, Thomas M. O'Toole 2015 College of Saint Benedict/Saint John's University

Hlhs Is Caused By The Up Regulation Of Hif1Α Due To Hypoxia Caused By A Polymorphism In Enos, Tyler J. Bruinsma, Kevin T. Curwick, Leah Ellman, Jared M. Grootwassink, Thomas M. O'Toole

Celebrating Scholarship & Creativity Day

Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect occurring in fewer than 0.5% of live births in the United States (Fruitman, 2000). It is characterized by a critically underdeveloped left ventricle with accompanying imperfections including septal defects, under-sized aorta, and underdeveloped bicuspid and aortic semilunar valves (Mayo Clinic Staff, 2012; CDC, 2013). HLHS is detectable on ultrasound at the end of the first trimester of pregnancy allowing for early diagnosis and potential treatment in utero. While a protocol involving three surgeries exists to treat the condition, there is no cure for HLHS. Even with treatment, many ...


Sickle Cell Disease Among African-American Children: Exploring Relevant Literature And Identifying Research Needs, Dawana Owens 2015 Georgia State University

Sickle Cell Disease Among African-American Children: Exploring Relevant Literature And Identifying Research Needs, Dawana Owens

Georgia State Undergraduate Research Conference

No abstract provided.


Hereditary Mucoepithelial Dysplasia And Severe Respiratory Distress, Mahmoud Halawa, Mutasim N. Abu-Hasan, Mai K. Elmallah 2015 University of Florida

Hereditary Mucoepithelial Dysplasia And Severe Respiratory Distress, Mahmoud Halawa, Mutasim N. Abu-Hasan, Mai K. Elmallah

Pediatric Publications

Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant disorder characterized by mucoepithelial disruption of the skin, hair and mucous membranes. It results from defective gap junction formation and leads to non-scarring alopecia, mucosal erythema, perineal erythematous intertrigo, involvement of the conjunctival mucosa, and pulmonary disease. We present a case of severe respiratory distress in an initially healthy full term infant born to a mother with HMD. This infant later developed signs and symptoms of HMD. A high index of suspicion for pulmonary infection with atypical organism is essential in infants with a family history of HMD who present with ...


Why?-Abetes: Understanding Diabetes Management In Rural Kwa-Zulu Natal, South Africa, Kyra Wicklund 2015 SIT Study Abroad

Why?-Abetes: Understanding Diabetes Management In Rural Kwa-Zulu Natal, South Africa, Kyra Wicklund

Independent Study Project (ISP) Collection

This project will investigate how diabetics, family members, and community members involved with diabetes relate to the disease and its continued management in a rural area of KwaZulu-Natal, South Africa. Although diabetes is an issue worldwide, it has been largely over-looked in sub-Saharan Africa. This study utilized interviews with diabetics, family members of diabetics, and clinic staff as well as personal observations to reveal the strategies, challenges, and stories of diabetes in this area. Conversations with local health experts verified that diabetes is a major issue in the area of this study. Topics of interest were support structures present; education ...


Changes In Speckle Tracking Echocardiography Measures Of Ventricular Function After Percutaneous Implantation Of The Edwards Sapien Transcatheter Heart Valve In The Pulmonary Position., Shahryar M. Chowdhury, Ziyad M. Hijazi, John F. Rhodes, Saibal Kar, Raj Makkar, Michael Mullen, Qi-Ling Cao, Lazar Mandinov, Jason Buckley, Nicholas P. Pietris, Girish S. Shirali 2015 Children's Mercy Hospital

Changes In Speckle Tracking Echocardiography Measures Of Ventricular Function After Percutaneous Implantation Of The Edwards Sapien Transcatheter Heart Valve In The Pulmonary Position., Shahryar M. Chowdhury, Ziyad M. Hijazi, John F. Rhodes, Saibal Kar, Raj Makkar, Michael Mullen, Qi-Ling Cao, Lazar Mandinov, Jason Buckley, Nicholas P. Pietris, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Patients with free pulmonary regurgitation or mixed pulmonary stenosis and regurgitation and severely dilated right ventricles (RV) show little improvement in ventricular function after pulmonary valve replacement when assessed by traditional echocardiographic markers. We evaluated changes in right and left ventricular (LV) function using speckle tracking echocardiography in patients after SAPIEN transcatheter pulmonary valve (TPV) placement.

METHODS: Echocardiograms were evaluated at baseline, discharge, 1 and 6 months after TPV placement in 24 patients from 4 centers. Speckle tracking measures of function included peak longitudinal strain, strain rate, and early diastolic strain rate. RV fractional area change, tricuspid annular plane ...


Clinical Outcomes Of Splenectomy In Children: Report Of The Splenectomy In Congenital Hemolytic Anemia Registry., Henry E. Rice, Brian R. Englum, Jennifer Rothman, Sarah Leonard, Audra Reiter, Courtney Thornburg, Mary Brindle, Nicola Wright, Matthew M. Heeney, Charles Smithers, Rebeccah L. Brown, Theodosia Kalfa, Jacob C. Langer, Michaela Cada, Keith T. Oldham, J Paul Scott, Shawn D. St Peter, Mukta Sharma, Andrew M. Davidoff, Kerri Nottage, Kathryn Bernabe, David B. Wilson, Sanjeev Dutta, Bertil Glader, Shelley E. Crary, Melvin S. Dassinger, Levette Dunbar, Saleem Islam, Manjusha Kumar, Fred Rescorla, Steve Bruch, Andrew Campbell, Mary Austin, Robert Sidonio, Martin L Blakely, Splenectomy in Congenital Hemolytic Anemia (SICHA) Consortium 2015 Children's Mercy Hospital

Clinical Outcomes Of Splenectomy In Children: Report Of The Splenectomy In Congenital Hemolytic Anemia Registry., Henry E. Rice, Brian R. Englum, Jennifer Rothman, Sarah Leonard, Audra Reiter, Courtney Thornburg, Mary Brindle, Nicola Wright, Matthew M. Heeney, Charles Smithers, Rebeccah L. Brown, Theodosia Kalfa, Jacob C. Langer, Michaela Cada, Keith T. Oldham, J Paul Scott, Shawn D. St Peter, Mukta Sharma, Andrew M. Davidoff, Kerri Nottage, Kathryn Bernabe, David B. Wilson, Sanjeev Dutta, Bertil Glader, Shelley E. Crary, Melvin S. Dassinger, Levette Dunbar, Saleem Islam, Manjusha Kumar, Fred Rescorla, Steve Bruch, Andrew Campbell, Mary Austin, Robert Sidonio, Martin L Blakely, Splenectomy In Congenital Hemolytic Anemia (Sicha) Consortium

Manuscripts, Articles, Book Chapters and Other Papers

The outcomes of children with congenital hemolytic anemia (CHA) undergoing total splenectomy (TS) or partial splenectomy (PS) remain unclear. In this study, we collected data from 100 children with CHA who underwent TS or PS from 2005 to 2013 at 16 sites in the Splenectomy in Congenital Hemolytic Anemia (SICHA) consortium using a patient registry. We analyzed demographics and baseline clinical status, operative details, and outcomes at 4, 24, and 52 weeks after surgery. Results were summarized as hematologic outcomes, short-term adverse events (AEs) (≤30 days after surgery), and long-term AEs (31-365 days after surgery). For children with hereditary spherocytosis ...


Calcium Dependent Regulatory Mechanism In Wolfram Syndrome: A Dissertation, Simin Lu 2015 University of Massachusetts Medical School

Calcium Dependent Regulatory Mechanism In Wolfram Syndrome: A Dissertation, Simin Lu

GSBS Dissertations and Theses

Wolfram syndrome is a genetic disorder characterized by diabetes and neurodegeneration. Two causative genes have been identified so far, WFS1 and WFS2, both encoding endoplasmic reticulum (ER) localized transmembrane proteins. Since WFS1 is involved in the ER stress pathway, Wolfram syndrome is considered an ER disease. Despite the underlying importance of ER dysfunction in Wolfram syndrome, the molecular mechanism linking ER to the death of β cells and neurons has not been elucidated.

The endoplasmic reticulum (ER) is an organelle that forms a network of enclosed sacs and tubes that connect the nuclear membrane and other organelles including Golgi and ...


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