Diagnosis Commons^™

A Multicenter Study To Evaluate Pulmonary Function In Osteogenesis Imperfecta., Allison Tam, Shan Chen, Evan Schauer, Ingo Grafe, Venkata Bandi, Jay R. Shapiro, Robert D. Steiner, Peter A. Smith, Michael B. Bober, Tracy Hart, David Cuthbertson, Jeffrey Krischer, Mary Mullins, Peter H. Byers, Robert A. Sandhaus, Michaela Durigova, Francis H. Glorieux, Frank Rauch, Vernon Reid Sutton, Brendan Lee, Members Of The Brittle Bone Disorders Consortium, Eric T. Rush, Sandesh C S Nagamani

Manuscripts, Articles, Book Chapters and Other Papers

Pulmonary complications are a significant cause for morbidity and mortality in osteogenesis imperfecta (OI). However, to date, there have been few studies that have systematically evaluated pulmonary function in individuals with OI. We analyzed spirometry measurements, including forced vital capacity (FVC) and forced expiratory volume in the first second (FEV₁ ), in a large cohort of individuals with OI (n = 217) enrolled in a multicenter, observational study. We show that individuals with the more severe form of the disease, OI type III, have significantly reduced FVC and FEV₁ which do not follow the expected trends of the …

Late Onset Of Pulmonary Hypertension And Sepsis In Omphalocele Infants, Joanne E. Baerg, Arul Thirumoorthi, Whitney Carlton, Shelly Haug, Andrew O. Hopper, Donna Goff, Sandhya Ramlogan, Shawn D. St Peter

Manuscripts, Articles, Book Chapters and Other Papers

A subset of omphalocele infants has respiratory decompensation after the first week of life and PHN is diagnosed. Infection may initiate decompensation. In some, PHN is distinct from pulmonary hypoplasia as they oxygenate on room air for some time after birth. With aggressive treatment and follow-up, PHN can resolve. The late diagnosis of PHN in infants with omphalocele is previously unappreciated and deserves further study.

Vague Neuroglycopenic Complaints Camouflage Diagnosis Of Adolescent Insulinoma: A Case Report., Kelsee Halpin, Ryan Mcdonough, Patria Alba, Jared Halpin, Vivekanand Singh, Yun Yan

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Insulinoma is a rare diagnosis in the general population with estimates of 1 in 250,000 people per year. Reports of these pancreatic islet cell tumors are even more unusual in children and adolescents. Chronic hypoglycemia due to an insulinoma often presents with neuroglycopenic symptoms that can easily be overlooked, especially in adolescents where nonspecific complaints are common. This may result in delayed diagnosis with prolonged periods of untreated hypoglycemia and associated complications. The rarity of pediatric insulinoma, vagueness of presenting symptoms, and challenge of tumor localization make insulinoma a true diagnostic quandary for clinicians.

CASE PRESENTATION: In this report, …

Evaluating Children With Otitis Media For Bacteremia Or Urinary Tract Infection., Daniel Yawman, Patrick Mahar, Aaron Blumkin, Gregory P. Conners

Manuscripts, Articles, Book Chapters and Other Papers

Background. It is unclear if clinicians evaluate for concurrent bacteremia or UTI in young patients diagnosed with acute otitis media (AOM). Objectives. To describe how often, and under which circumstances, emergency providers investigate for bacteremia or UTI in 2-36 month olds with AOM. Methods. Cases of AOM were analyzed from the 2001-2004 National Hospital Ambulatory Medical Care Survey (NHAMCS)-Emergency Department dataset. Results. AOM was diagnosed in 17% of the 10,847 recorded visits of 2-36 month olds. Of these visits, laboratory testing included: CBC: 7%, Blood culture: 4%, urinalysis or urine culture: 5%, and any of these tests: 9%. Rates of …

Universal Screening For Extracardiac Abnormalities In Neonates With Congenital Heart Disease., Javier H. Gonzalez, Girish S. Shirali, Andrew M. Atz, Sarah N. Taylor, Geoffrey A. Forbus, Sinai C. Zyblewski, Anthony M. Hlavacek

Manuscripts, Articles, Book Chapters and Other Papers

Extracardiac or genetic abnormalities (EGA) represent a factor in the morbidity of patients with congenital heart disease. We evaluated the way neonates with CHD are screened at our institution and determined the yield for the screening tests. We reviewed the charts of 223 neonates with structural CHD. Subjects were categorized into 6 groups: univentricular, left-sided obstructive lesions, right-sided obstructive lesions, septal defects, conotruncal defects (CTD), and other. We reviewed which patients underwent cranial ultrasonogram (CUS), abdominal ultrasonogram (AUS), and/or genetic studies (GS) as well as their results. There was a high prevalence of EGA in each group by CUS (32% …

Current Significance Of Meconium Plug Syndrome., Scott J. Keckler, Shawn D. St Peter, Troy L. Spilde, Kuojen Tsao, Daniel J. Ostlie, G W. Holcomb Iii, Charles L. Snyder

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: The significance of meconium plug syndrome is dependent on the underlying diagnosis. The incidence of pathologic finding, particularly Hirschsprung's disease, contributing to the presence of these plugs, has been debated. However, there are little recent data in the literature. Therefore, we reviewed our experience with meconium plugs as a cause of abdominal distension to evaluate the associated conditions and incidence of Hirschsprung's disease.

METHODS: We reviewed the records of newborns with meconium plugs found in the distal colon on contrast enema from 1994 to 2007. Demographics, radiologic findings, histologic findings, operative findings, and clinical courses were reviewed.

RESULTS: During …

Left Ventricular Noncompaction Mimicking Peripartum Cardiomyopathy., Chetan Patel, Girish S. Shirali, Naveen Pereira

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Recognition Of Left Atrial Aneurysm By Fetal Echocardiography., R R. Fountain-Dommer, H B. Wiles, C O. Shuler, S M. Bradley, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.