Medical Specialties Commons^™

Extracorporeal Membrane Oxygenation As A Bridge To Chimeric Antigen Receptor T-Cell Therapy For Severe Refractory Sepsis In The Setting Of Relapsed Refractory Pediatric Acute Lymphoblastic Leukemia: A Case Report., Alyssa Stoner, Jenna Miller, Terrie Flatt, Jessica S. Wallisch

Manuscripts, Articles, Book Chapters and Other Papers

Pediatric oncology patients with sepsis are at higher risk of morbidity and mortality compared with pediatric patients without malignancy. Historically, patients with relapsed and/or refractory disease were not considered candidates for aggressive life support strategies including extracorporeal membrane oxygenation support.

Case Summary: We report a 4-year-old female with relapsed refractory pre-B cell acute lymphoblastic leukemia preparing for chimeric antigen receptor T cell therapy with tisagenlecleucel who was admitted with fever and neutropenia. She progressed to refractory septic shock secondary to

Conclusion: The ability to provide chimeric antigen receptor T-cell therapy at designated institutions can augment extracorporeal membrane oxygenation candidacy discussions …

Urinary Epidermal Growth Factor As A Marker Of Disease Progression In Children With Nephrotic Syndrome., Debbie S. Gipson, Howard Trachtman, Anne Waldo, Keisha L. Gibson, Sean Eddy, Katherine M. Dell, Tarak Srivastava, Kevin V. Lemley, Larry A. Greenbaum, Sangeeta Hingorani, Kevin E. Meyers, Frederick J. Kaskel, Kimberly J. Reidy, Christine B. Sethna, Cheryl L. Tran, Chia-Shi Wang, Katherine R. Tuttle, Gia Oh, Alicia M. Neu, Elizabeth Brown, Jen-Jar Lin, Jennifer Lai Yee, Therese M M. Roth, Jonathan P. Troost, Brenda W. Gillespie, Matthew G. Sampson, Matthias Kretzler, Wenjun Ju

Manuscripts, Articles, Book Chapters and Other Papers

Introduction: Childhood-onset nephrotic syndrome has a variable clinical course. Improved predictive markers of long-term outcomes in children with nephrotic syndrome are needed. This study tests the association between baseline urinary epidermal growth factor (uEGF) excretion and longitudinal kidney function in children with nephrotic syndrome.

Methods: The study evaluated 191 participants younger than 18 years enrolled in the Nephrotic Syndrome Study Network, including 118 with their first clinically indicated kidney biopsy (68 minimal change disease; 50 focal segmental glomerulosclerosis) and 73 with incident nephrotic syndrome without a biopsy. uEGF was measured at baseline for all participants and normalized by the urine …

Biliary Dyskinesia In Children And Adolescents: A Mini Review., David Simon, Craig A. Friesen, Jennifer Verrill Schurman, Jennifer Colombo

Manuscripts, Articles, Book Chapters and Other Papers

Introduction: While functional gallbladder disorder is a well-recognized and defined condition in adults, its pediatric analog, biliary dyskinesia, lacks uniformity in diagnosis. Yet, biliary dyskinesia is among the most common conditions resulting in cholecystectomy in youth and its frequency continues to rise. The primary aims of the current review were assess the efficacy of cholecystectomy in children diagnosed with biliary dyskinesia and the utility of cholescintigraphy in predicting outcomes.

Results: All previous studies assessing outcomes in youth with biliary dyskinesia have been retrospective and therefore of low quality. There is a lack of uniformity in patient selection. Short term follow-up …

The Reliability Of Histamine Pharmacodynamic Response Phenotype Classification In Children With Allergic Disease., Shaun S Kumar, Xiaoxi Liu, Catherine M Sherwin, Bridgette Jones

Manuscripts, Articles, Book Chapters and Other Papers

We have identified distinct histamine pharmacodynamic response phenotypes in children with allergic disease utilizing histamine iontophoresis with laser Doppler (HILD). These response phenotypes may be relevant in guiding therapeutic decision making for agents targeting the allergic response pathways. However, the reliability of these response phenotypes has not been assessed. Therefore, we performed HILD in children with allergic rhinitis and/or asthma on two to three separate occasions. HILD response-time data were analyzed in NONMEM using a linked effect PKPD model. Examination of observed vs. classified response phenotypes predicted response plots and the sum of residuals. The intraclass correlation coefficient (ICC) was …

Musculoskeletal Pain Outcomes Pre- And Post Intrathecal Baclofen Pump Implant In Children With Cerebral Palsy: A Prospective Cohort Study., Chantel C. Barney, Alyssa M. Merbler, Jean Stansbury, Linda E. Krach, Michael D. Partington, Patrick Graupman, Peter D. Kim, Debbie Song, Frank J. Symons

Manuscripts, Articles, Book Chapters and Other Papers

Objective: To characterize musculoskeletal pain intensity, duration, frequency, and interference with activities of daily living in children with cerebral palsy (CP) before and after intrathecal baclofen pump placement.

Design: Prospective cohort study.

Setting: Children's tertiary hospital.

Participants: Participants were children with CP (N=32; 53% male; mean age, 9.9y; age range, 4-17y). The majority of participants had a CP diagnosis of quadriplegia (76%) and relied on wheeled mobility (91%).

Interventions: Assessments were completed pre- and post intrathecal baclofen pump implant.

Main outcome measures: Because of considerable patient heterogeneity, both pain measures (Brief Pain Inventory, Dalhousie Pain Interview) were completed by proxy …

Food Allergy Among University Students: Uncharted Territory., Ali Hassan, Amna Alsaihati, Malak Al Shammari, Haitham Alaithan, Wejdan Al-Johani, Nouf Alshamlan, Salman Aljubran

Manuscripts, Articles, Book Chapters and Other Papers

Background: Food allergy is a growing global health concern, with limited studies conducted in developing countries. High-risk behavior regarding allergies is common among young adults, making them prone to severe allergic reactions. This study aimed to estimate the prevalence of food allergies among Imam Abdulrahman Bin Faisal University (IAU) students and to determine the rate of high-risk behaviors in this group.

Methods: An online survey was conducted among IAU students enrolled between the academic years of 2008 and 2018. The survey addressed food allergies with respect to age of onset, allergy testing, self-injectable epinephrine (SIE) prescription, associated allergic conditions, and …

Does The Oral-Anal Transit Test Correlate With Colonic Manometry Findings In Children With Refractory Constipation?, Jason Dranove, Nathan Fleishman, Saigopala Reddy, Steven Teich

Manuscripts, Articles, Book Chapters and Other Papers

Purpose: The Oral-anal Transit Test (OTT) is a simple method of obtaining information about colonic transit. We aim to assess the correlation of OTT with the neuromuscular integrity of the colon determined by colonic manometry (CM).

Methods: All patients who had OTT followed by CM were evaluated. Less than 6 of 24 markers remaining on OTT was considered normal. CM was performed per previously published guidelines. A normal CM was defined as at least one High Amplitude Propagating Contraction progressing from the most proximal sensor through the sigmoid colon.

Results: A total of 34 patients underwent both OTT and CM …

The Dietary Management Of Calcium And Phosphate In Children With Ckd Stages 2-5 And On Dialysis-Clinical Practice Recommendation From The Pediatric Renal Nutrition Taskforce., Louise Mcalister, Pearl Pugh, Laurence Greenbaum, Dieter Haffner, Lesley Rees, Caroline Anderson, An Desloovere, Christina Nelms, Michiel Oosterveld, Fabio Paglialonga, Nonnie Polderman, Leila Qizalbash, José Renken-Terhaerdt, Jetta Tuokkola, Bradley A. Warady, Johan Vande Walle, Vanessa Shaw, Rukshana Shroff

Manuscripts, Articles, Book Chapters and Other Papers

In children with chronic kidney disease (CKD), optimal control of bone and mineral homeostasis is essential, not only for the prevention of debilitating skeletal complications and achieving adequate growth but also for preventing vascular calcification and cardiovascular disease. Complications of mineral bone disease (MBD) are common and contribute to the high morbidity and mortality seen in children with CKD. Although several studies describe the prevalence of abnormal calcium, phosphate, parathyroid hormone, and vitamin D levels as well as associated clinical and radiological complications and their medical management, little is known about the dietary requirements and management of calcium (Ca) and …

Immunogenicity In Clinical Practice And Drug Development: When Is It Significant?, Valentina Shakhnovich, Bernd Meibohm, Amy Rosenberg, Andrzej M. Kierzek, Rachel Hasenkamp, Ryan S. Funk, Craig J. Thalhauser, Piet H. Van Der Graaf, Yow Ming C. Wang, Lora Hamuro

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Energy And Protein Requirements For Children With Ckd Stages 2-5 And On Dialysis-Clinical Practice Recommendations From The Pediatric Renal Nutrition Taskforce., Vanessa Shaw, Nonnie Polderman, José Renken-Terhaerdt, Fabio Paglialonga, Michiel Oosterveld, Jetta Tuokkola, Caroline Anderson, An Desloovere, Laurence Greenbaum, Dieter Haffner, Christina Nelms, Leila Qizalbash, Johan Vande Walle, Bradley A. Warady, Rukshana Shroff, Lesley Rees

Manuscripts, Articles, Book Chapters and Other Papers

Dietary management in pediatric chronic kidney disease (CKD) is an area fraught with uncertainties and wide variations in practice. Even in tertiary pediatric nephrology centers, expert dietetic input is often lacking. The Pediatric Renal Nutrition Taskforce (PRNT), an international team of pediatric renal dietitians and pediatric nephrologists, was established to develop clinical practice recommendations (CPRs) to address these challenges and to serve as a resource for nutritional care. We present CPRs for energy and protein requirements for children with CKD stages 2-5 and those on dialysis (CKD2-5D). We address energy requirements in the context of poor growth, obesity, and different …

The Role Of Alternative Mrna Splicing In Heart Development, Douglas Bittel, Nataliya Kibiryeva, Naoya Kenmochi, Prakash Patil, Tamayo Uechi, Brenda Rongish, Mike Filla, Jennifer A. Marshall, Michael Artman, Rajasingh Johnson, James E. O'Brien

Manuscripts, Articles, Book Chapters and Other Papers

Research in the last 10 years has led to improved understanding of the genetic regulation of vertebrate heart development, but despite this effort, approximately 70% of all congenital heart defects (CHDs) still have an unknown etiology. Alternative splicing of mRNA has been documented to play roles in normal and abnormal development. Dysregulated splicing of mRNA has been shown to cause heart defects in mice, however a link between mRNA splicing and CHDs has not yet been shown in humans. We reported that more than 50% of genes associated with heart development were alternatively spliced in the right ventricle (RV) of …

Comparison Of The Id Now Influenza A & B 2, Cobas Influenza A/B, And Xpert Xpress Flu Point-Of-Care Nucleic Acid Amplification Tests For Influenza A/B Virus Detection In Children, Neena Kanwar, Jeff Michael, Kathryn Doran, Emily Montgomery, Rangaraj Selvarangan

Manuscripts, Articles, Book Chapters and Other Papers

© 2020 Kanwar et al. Early diagnosis of influenza (Flu) is critical for patient management and infection control. The ID Now influenza A & B 2 (ID Now) assay (Abbott Laboratories), Cobas influenza A/B nucleic acid test (LIAT; Roche Molecular Systems, Inc.), and Xpert Xpress Flu (Xpert; Cepheid) are rapid, point-of-care molecular assays for Flu virus detection. The study aim was to compare the performances of these three commercially available Clinical Laboratory Improvement Amendments (CLIA)-waived Flu virus assays. We prospectively enrolled 201 children platforms, as per the manufacturers' instructions. CDC Flu A/B PCR was used as a reference method to …

Suppressing Stat5 Signaling Affects Osteosarcoma Growth And Stemness., Dharmalingam Subramaniam, Pablo Angulo, Sivapriya Ponnurangam, Prasad Dandawate, Prabhu Ramamoorthy, Pugazhendhi Srinivasan, Tomoo Iwakuma, Scott J. Weir, Katherine Chastain, Shrikant Anant

Manuscripts, Articles, Book Chapters and Other Papers

Osteosarcoma (OS) is the most common primary bone tumor that primarily affects children and adolescents. Studies suggested that dysregulation JAK/STAT signaling promotes the development of OS. Cells treated with pimozide, a STAT5 inhibitor suppressed proliferation and colony formation and induced sub G0/G1 cell cycle arrest and apoptosis. There was a reduction in cyclin D1 and CDK2 expression and Rb phosphorylation, and activation of Caspase-3 and PARP cleavage. In addition, pimozide suppressed the formation of 3-dimensional osteospheres and growth of the cells in the Tumor in a Dish lung organoid system. Furthermore, there was a reduction in expression of cancer stem …

Oxidant Stress And Renal Function Among Children With Chronic Kidney Disease: A Repeated Measures Study., Melanie H. Jacobson, Mengling Liu, Yinxiang Wu, Susan Furth, Bradley A. Warady, Howard Trachtman, Leonardo Trasande

Manuscripts, Articles, Book Chapters and Other Papers

It is hypothesized that chronic kidney disease (CKD) induces oxidant stress which contributes to the decline in kidney function. However, few studies have incorporated longitudinal designs and no studies have investigated this association among children. Using data from the Chronic Kidney Disease in Children (CKiD) study, we examined longitudinal associations between urinary biomarkers of oxidant stress, 8-OH deoxyguanosine (8-OHdG) and F2-isoprostane, and measures of renal function and blood pressure among children with CKD. Baseline levels of 8-OHdG were positively associated with estimated glomerular filtration rate (eGFR) over time and a log-unit increase in baseline 8-OHdG predicted a 5.68 ml/min/1.73 m2 …

A Ten-Year Retrospective Evaluation Of Acute Flaccid Myelitis At 5 Pediatric Centers In The United States, 2005-2014., Margaret M. Cortese, Anita K. Kambhampati, Jennifer E. Schuster, Zaid Alhinai, Gary R. Nelson, Gloria J. Guzman Perez-Carrillo, Arastoo Vossough, Michael A. Smit, Robert C. Mckinstry, Timothy Zinkus, Kevin R. Moore, Jeffrey M. Rogg, Meghan S. Candee, James J. Sejvar, Sarah E. Hopkins

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Acute flaccid myelitis (AFM) is a severe illness similar to paralytic poliomyelitis. It is unclear how frequently AFM occurred in U.S. children after poliovirus elimination. In 2014, an AFM cluster was identified in Colorado, prompting passive US surveillance that yielded 120 AFM cases of unconfirmed etiology. Subsequently, increased reports were received in 2016 and 2018. To help inform investigations on causality of the recent AFM outbreaks, our objective was to determine how frequently AFM had occurred before 2014, and if 2014 cases had different characteristics.

METHODS: We conducted a retrospective study covering 2005-2014 at 5 pediatric centers in 3 …

An Adolescent Female With Bipolar Disorder Presenting With Lithium-Induced Hyperthyroidism., Pratibha Rana, Patria Alba Aponte, Ghufran Babar

Manuscripts, Articles, Book Chapters and Other Papers

Lithium therapy has been associated with several endocrine disorders including thyroid dysfunction, diabetes insipidus, and hyperparathyroidism. While its suppressive effect on thyroid function is well known, it is very rare to observe lithium-induced hyperthyroidism especially in the pediatric population. Here, we describe a case of lithium-induced hyperthyroidism in an adolescent female with bipolar disorder. The patient is a 17-year-old female who was treated with lithium for bipolar disorder and presented with symptoms and laboratory findings consistent with hyperthyroidism. Since thyroid autoantibodies were negative, thyroid dysfunction was attributed to lithium toxicity. Indeed, her clinical and biochemical hyperthyroid state resolved after stopping …

Association Of Time-Varying Blood Pressure With Chronic Kidney Disease Progression In Children., Ben Christopher Reynolds, Jennifer Lynn Roem, Derek Kai Sing Ng, Mina Matsuda-Abedini, Joseph Thomas Flynn, Susan Lynn Furth, Bradley A. Warady, Rulan Savita Parekh

Manuscripts, Articles, Book Chapters and Other Papers

Importance: Optimal blood pressure (BP) management in children with chronic kidney disease (CKD) slows progression to end-stage renal disease. Studies often base progression risk on a single baseline BP measurement, which may underestimate risk.

Objective: To determine whether time-varying BP measurements are associated with a higher risk of progression of CKD than baseline BP measurements.

Design, Setting, and Participants: The ongoing longitudinal, prospective cohort study Chronic Kidney Disease in Children (CKID) recruited children from January 19, 2005, through March 19, 2014, from pediatric nephrology centers across North America, with data collected at annual study visits. Participants included children aged 1 …

Toward Actionable Practice Parameters For "Dual Diagnosis": Principles Of Assessment And Management For Co-Occurring Psychiatric And Intellectual/Developmental Disability., John N. Constantino, Shae Strom, Michael Bunis, Cy Nadler, Teresa Rodgers, Julia Lepage, Connie Cahalan, Amber Stockreef, Lucas Evans, Rachel Jones, Alyssa Wilson

Manuscripts, Articles, Book Chapters and Other Papers

PURPOSE OF REVIEW: Although treatment algorithms and parameters for best practice are readily available for all major syndromes of psychiatric impairment, the occurrence of psychiatric syndromes in individuals with intellectual and developmental disability (IDD) invokes serious contextual challenges for interpretation of symptoms, diagnosis, and optimization of treatment, both for clinicians and for the service sectors in which care and support of individuals with IDD are delivered. Recognizing that there exist very few definitive resources for best practice under the circumstance of this form of "dual diagnosis," the Missouri Department of Mental Health convened an expert panel to conduct a focused …

Validation And Human Factor Analysis Study Of An Infant Weight Estimation Device., Susan M. Abdel-Rahman, Ian M. Paul, Paula Delmore, Jia-Yuh Chen, Mary Mills, Rachel G. Greenberg, Best Pharmaceuticals For Children Act – Pediatric Trials Network

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Weight is critical for the medical management of infants; however, scales can be unavailable or inaccessible in some practice settings. We recently developed and validated a robust infant weight estimation method based on chest circumference (CC) and head circumference (HC). This study was designed to determine the human factors (HF) experience with, and predictive performance of, an infant weight estimation device that implements this method.

METHODS: Prospective, multi-center, observational, masked study of 486 preterm and term infants (0-90 days) assessed by 15 raters. Raters measured the infant using calibrated scales/measures and masked versions of the device. Raters also evaluated …

Increased Episodes Of Aspiration On Videofluoroscopic Swallow Study In Children With Nasogastric Tube Placement., Sarah T. Edwards, Linda Ernst, Ashley K. Sherman, Ann M. Davis

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Given the limited evidence available, the impact of nasogastric (NG) tube placement on swallowing in children is not well understood. When a child needs to be fed enterally, the current standard is to initially place an NG tube and leave it in place for the first few months of supplemental or total enteral nutrition. It is important to understand if placement of NG tubes has a negative effect on a patient's swallow.

METHODS: We retrospectively reviewed the charts of those children who had videofluoroscopic swallow studies (VFSS) to identify all children who had an NG tube in place at …

Prevalence Of Sensorineural Hearing Loss In Children With Palliated Or Repaired Congenital Heart Disease., Lalitha Gopineti, Mane Paulpillai, Andrea Rosenquist, Andrew H. Van Bergen

Manuscripts, Articles, Book Chapters and Other Papers

Background Children with congenital heart disease (CHD) are at increased risk of neurodevelopmental deficits, and the presence of sensorineural hearing loss (SNHL) may further lead to poor language skills acquisition and speech delays. Prevalence of SNHL in the general pediatric population is estimated to be 0.2% at birth to 0.35% during adolescence. Very few studies have attempted to estimate SNHL prevalence in children who have undergone congenital heart surgery. Methods This retrospective study aimed to estimate SNHL prevalence in children who underwent congenital heart surgery in our institution and were followed up in our high-risk pediatric cardiology clinics for four …

Hypomorphic Si Genetic Variants Are Associated With Childhood Chronic Loose Stools., Bruno P Chumpitazi, Jeffery Lewis, Derick Cooper, Mauro D'Amato, Joel Lim, Sandeep Gupta, Adrian Miranda, Natalie Terry, Devendra Mehta, Ann Scheimann, Molly O'Gorman, Neelesh Tipnis, Yinka Davies, Joel Friedlander, Heather Smith, Jaya Punati, Julie Khlevner, Mala Setty, Carlo Di Lorenzo

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: The SI gene encodes the sucrase-isomaltase enzyme, a disaccharidase expressed in the intestinal brush border. Hypomorphic SI variants cause recessive congenital sucrase-isomaltase deficiency (CSID) and related gastrointestinal (GI) symptoms. Among children presenting with chronic, idiopathic loose stools, we assessed the prevalence of CSID-associated SI variants relative to the general population and the relative GI symptom burden associated with SI genotype within the study population.

METHODS: A prospective study conducted at 18 centers enrolled 308 non-Hispanic white children ≤18 years old who were experiencing chronic, idiopathic, loose stools at least once per week for >4 weeks. Data on demographics, GI …

A Simple Technique For The Management Of Refractory Gastrostomy Site Complications A Technical Innovation In Gastrostomy Tube Site Revision, Rebecca M. Rentea, Wendy Jo Svetanoff, Charlene Dekonenko, Courtney Pisano, Charles L. Snyder

Manuscripts, Articles, Book Chapters and Other Papers

Introduction

Longstanding gastrostomy sites are prone to leakage and excoriation secondary to protrusion of gastric mucosa into the tract, dilation of the site over time, and development of refractory granulation tissue. Surgical revision with creation of a new gastric and skin exit site can be difficult. We describe a technique to re-site a gastrostomy tube (GT) utilizing the existing GT site.

Materials and methods

For one patient with gastrostomy site refractory complications, we re-sited the GT using the existing site. A clamp was placed through the old GT site and was palpated through the abdominal wall. An incision over the …

Pentalogy Of Cantrell, Muhammad Khawar Sana, Rebecca M. Rentea

Manuscripts, Articles, Book Chapters and Other Papers

Pentalogy of Cantrell (POC) is a collection of five congenital midline birth anomalies that present a distinctive challenge for clinicians and surgeons. Those five defects are of the heart, pericardium, diaphragm, sternum, and abdominal wall. This condition has been divided into two categories, complete or partial. Complete, as the name indicates, refers to the presence of all five defects, while others may present with only partial defects. It is also referred to as thoracoabdominal ectopia cordis, a condition where the heart is covered by an omphalocele-like membrane. Ectopia cordis (EC) is often found in fetuses with POC. Infants usually have …

Retroperitoneal Hematoma, Christopher Mondie, Rebecca M. Rentea

Manuscripts, Articles, Book Chapters and Other Papers

Retroperitoneal hematoma is defined as bleeding into the retroperitoneal space. This clinical entity is often occult and under-recognized by clinicians and is a cause of significant morbidity and mortality. Often patients do not manifest clinically apparent signs and symptoms until a substantial amount of blood loss has occurred. It is not uncommon for patients to present in frank hemorrhagic shock due to an underlying retroperitoneal hematoma. The retroperitoneal space lies directly posterior to the peritoneal cavity. An organizational schema dividing the retroperitoneal space into three different “zones” is widely prevalent in the surgical literature. The central-medial zone (Zone I) falls …

Rna Sequencing Of Human Peripheral Nerve In Response To Injury: Distinctive Analysis Of The Nerve Repair Pathways., Andrew S. Welleford, Jorge E. Quintero, Nader El Seblani, Eric Blalock, Sumedha Gunewardena, Steven M. Shapiro, Sean M. Riordan, Peter Huettl, Zain Guduru, John A. Stanford, Craig G. Van Horne, Greg A. Gerhardt

Manuscripts, Articles, Book Chapters and Other Papers

The development of regenerative therapies for central nervous system diseases can likely benefit from an understanding of the peripheral nervous system repair process, particularly in identifying potential gene pathways involved in human nerve repair. This study employed RNA sequencing (RNA-seq) technology to analyze the whole transcriptome profile of the human peripheral nerve in response to an injury. The distal sural nerve was exposed, completely transected, and a 1 to 2 cm section of nerve fascicles was collected for RNA-seq from six participants with Parkinson's disease, ranging in age between 53 and 70 yr. Two weeks after the initial injury, another …

Morgagni Hernia, Wendy Jo Svetanoff, Rebecca M. Rentea

Manuscripts, Articles, Book Chapters and Other Papers

A Morgagni hernia is one of four types of diaphragmatic hernias; the other types include a Bochdalek hernia, where the defect is posterolateral, a hiatal hernia, where the defect is at the esophageal hiatus, and a paraesophageal hernia, where the defect is located adjacent to the esophageal hiatus. The Morgagni hernia, in which the defect is found in an anterior and retrosternal location, was first described by Morgagni in 1769. It is rarer than the other type of congenital diaphragmatic hernia (Bochdalek hernia) and comprises only 2% to 5% of all congenital diaphragmatic hernias. Morgagni hernias tend to be less …

Ambiguous Genitalia And Disorders Of Sexual Differentiation, Khawar T. Mehmood, Rebecca M. Rentea

Manuscripts, Articles, Book Chapters and Other Papers

The birth of an infant with ambiguous genitalia generates difficult multiple medical, surgical, ethical, psychosocial, and physical issues for patients and their parents. Phenotypic sex results from the differentiation of internal ducts and external genitalia under the influence of hormones and other additional factors. When discordance occurs among three process es (chromosomal, gonadal, phenotypic sex determination), a DSD is the result. Terminology such as hermaphrodite, pseudo-hermaphrodite, and intersex, are considered to be pejorative and dated. These terms have been replaced by the term disorders of sexual development (DSD) by the consensus statement on management of intersex disorders. Disorders of sexual …

Ileal Atresia, Obiyo O. Osuchukwu, Rebecca M. Rentea

Manuscripts, Articles, Book Chapters and Other Papers

Ileal and jejunal atresias are usually described together as jejunoileal atresia (JIA). JIA is a common cause of intestinal obstruction in neonates. It is seen in 1 in 5000 to 1 in 14000 live births. Intestinal atresia can occur in any location on the small bowel as a solitary or even multiple lesions. Distally located atresia usually presents with delayed symptoms compared to proximal ones. Occasionally, JIA is associated with other malformations such as cardiac anomalies, gastroschisis, and cystic fibrosis. Evaluation can be initiated before birth with prenatal diagnosis using ultrasound findings of evidence of intestinal obstruction reported in 29% …

Gastroschisis, Rebecca M. Rentea, Vikas Gupta

Manuscripts, Articles, Book Chapters and Other Papers

Gastroschisis is a paraumbilical, full-thickness abdominal wall defect associated with protrusion of the bowel through the defect. It is rarely associated with genetic conditions. A membrane does not cover the bowel exposed in utero and, as a result, may be matted, dilated, and covered with a fibrinous inflammatory rind. Infants have a high proportion of intrauterine growth restriction. Diagnosis is often made on the 20-week ultrasound with free-floating bowel loops in the uterine cavity. Maternal serum alpha-fetoprotein (AFP) is elevated in pregnancies with gastroschisis. Compared with other abdominal wall defects diagnosed prenatally such as omphalocele, only 10 percent of cases …