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Education ?

Medical School Score
University of South Florida Health (1988)

Awards & Distinctions ?

Dept Of Pediatrics Uthhsc
American Board of Medical Genetics
American Board of Pediatrics

Affiliations ?

Dr. Scheuerle is affiliated with 5 hospitals.

Hospital Affiliations



  • Medical City Dallas Hospital
    7777 Forest Ln, Dallas, TX 75230
    Top 25%
  • Baylor University Medical Center
    3500 Gaston Ave, Dallas, TX 75246
    Top 25%
  • Texas Health Presbyterian Hospital Of Dallas
    8200 Walnut Hill Ln, Dallas, TX 75231
    Top 50%
  • Medical City
  • Harris Methodist - Springwood
    1608 Hospital Pkwy, Bedford, TX 76022
  • Publications & Research

    Dr. Scheuerle has contributed to 13 publications.
    Title Association of Microtia with Maternal Obesity and Periconceptional Folic Acid Use.
    Date February 2011
    Journal American Journal of Medical Genetics. Part A

    The study objective was to examine the association of microtia with maternal intake of folic-acid-containing supplements and obesity. The study data included deliveries from 1997 to 2005 from the National Birth Defects Prevention Study. Non-syndromic cases of microtia were compared to non-malformed, population-based liveborn control infants, by estimating adjusted odds ratios (AORs) and 95% confidence intervals (CIs) from logistic regression models that included maternal race/ethnicity, education, and study site. Maternal obesity was only weakly associated with microtia. Maternal periconceptional intake of folic-acid-containing vitamin supplements reduced the risk for microtia, but only among non-obese women (OR: 0.63; 95% CI: 0.44-0.91). The reduced risk was stronger when analyses were restricted to isolated cases (OR: 0.51; 95% CI: 0.34-0.77), and it was independent of the level of maternal dietary folate intake. Adjusting for maternal race/ethnicity did not reveal alternative interpretations of this association. This analysis suggests that maternal periconceptional intake of folic-acid-containing supplements may provide protection from microtia for non-obese women.

    Title A Physician Survey Regarding Diagnostic Variability Among Birth Defects.
    Date August 2010
    Journal American Journal of Medical Genetics. Part A
    Title Birth Defects and Military Service Since 1990.
    Date May 2009
    Journal Military Medicine

    The National Birth Defects Prevention Study (NBDPS) is an ongoing, multicenter, case-control study of over 30 major birth defects, and is one of the largest studies of the causes of birth defects to date. Data from it were examined to determine if maternal or paternal military service since 1990 as reported during the interview was associated with birth defects among offspring. Logistic regression was used to produce odds ratios (ORs) adjusted for major confounders. Overall, the results indicated no statistically significant association between parental military service since 1990 and increased risk of birth defects.

    Title Neonatal Presentation of Ventricular Tachycardia and a Reye-like Syndrome Episode Associated with Disturbed Mitochondrial Energy Metabolism.
    Date December 2003
    Journal Bmc Pediatrics

    BACKGROUND: Hyperammonemia, hypoglycemia, hepatopathy, and ventricular tachycardia are common presenting features of carnitine-acylcarnitine translocase deficiency (Mendelian Inheritance in Man database: *212138), a mitochondrial fatty acid oxidation disorder with a lethal prognosis. These features have not been identified as the presenting features of mitochondrial cytopathy in the neonatal period. CASE PRESENTATION: We describe an atypical presentation of mitochondrial cytopathy in a 2 day-old neonate. She presented with a Reye-like syndrome episode, premature ventricular contractions and ventricular tachycardia. Initial laboratory evaluation exhibited a large amount of 3-methylglutaconic acid on urine organic acid analysis, mild orotic aciduria and a nonspecific abnormal acylcarnitine profile. The evaluation for carnitine-acylcarnitine translocase deficiency and other fatty acid oxidation disorders was negative. The patient later developed a hypertrophic cardiomyopathy and continued to be affected by recurrent Reye-like syndrome episodes triggered by infections. A muscle biopsy exhibited signs of a mitochondrial cytopathy. During the course of her disease, her Reye-like syndrome episodes have subsided; however, cardiomyopathy has persisted along with fatigue and exercise intolerance. CONCLUSIONS: This case illustrates that, in the neonatal period, hyperammonemia and ventricular tachycardia may be the presenting features of a lethal carnitine-acylcarnitine translocase deficiency or of a mitochondrial cytopathy, associated with a milder clinical course. This association broadens the spectrum of presenting phenotypes observed in patients with disturbed mitochondrial energy metabolism. Also, the presence of 3-methylglutaconic aciduria suggests mitochondrial dysfunction and mild orotic aciduria could potentially be used as a marker of mitochondrial disease.

    Title Do Infants with Major Congenital Anomalies Have an Excess of Macrosomia?
    Date February 2002
    Journal Teratology

    Infants that develop congenital anomalies may also have an excess prevalence of macrosomia (birth weight > or =4,000 g). This may indicate that abnormalities of glycemic control play a role in the etiology of birth defects. This study was undertaken to determine whether all infants with congenital anomalies have an excess of macrosomia and whether it is confined to specific types of anomalies.

    Title Frequency of Prenatal Diagnosis of Birth Defects in Houston, Galveston and the Lower Rio Grande Valley, Texas 1995.
    Date January 2001
    Journal Fetal Diagnosis and Therapy

    BACKGROUND: Estimates of the proportion of birth defects diagnosed before birth exist for only a few types of birth defects and for a few geographic regions in the United States. This population-based study examines rates of prenatal diagnosis for previously unstudied birth defects in a new geographic region. METHODS: Active surveillance of 23 categories of birth defects among 111,902 infants born in 77 birthing hospitals in Texas in 1995 identified 852 infants or fetuses with major birth defects. Surveillance was conducted by the Texas Birth Defects Monitoring Program of the Texas Department of Health. Two regions were covered, the Houston/Galveston metropolitan area as well as the Lower Rio Grande Valley of Texas. Rates of prenatal diagnosis were evaluated for 23 different types of birth defects, using proportions and 95% confidence intervals. RESULTS: One third of the 852 infants or fetuses with birth defects were prenatally diagnosed. Diagnosis rates varied greatly depending on the type of birth defects and were lower among infants born to Black and Hispanic women. More than 60% of anencephaly, encephalocele, gastroschisis and trisomies 13 and 18 were diagnosed antenatally. Many of the fetuses that were electively terminated had birth defects or combinations of birth defects that were potentially lethal. Prevalence rates for birth defects generally do not include fetuses that die or are electively terminated before 20 weeks of gestation. Thus, 36% of anencephaly, 21% of omphalocele, 15% of encephalocele and between 7 and 10% of spina bifida, hydrocephaly, renal agenesis, and trisomies 13, 18, and 21 were not included in our published rates. CONCLUSIONS: Published rates for specific types of birth defects are spuriously low. This should be considered when investigating alleged clusters and comparing rates of birth defects across geographic areas. Since many elective abortions are for lethal or potentially lethal birth defects, a major effect of prenatal diagnosis is the resultant decrease in infant mortality attributable to birth defects.

    Title Selection Against Mutant Alleles in Blood Leukocytes is a Consistent Feature in Incontinentia Pigmenti Type 2.
    Date March 1997
    Journal Human Molecular Genetics

    Incontinentia Pigmenti 2 (IP2) is an X-linked dominant disorder with male lethality. Affected females display a characteristic skin eruption that evolves through four classic stages, frequently accompanied by dental and retinal abnormalities. Non-random (skewed) X-inactivation in peripheral blood leukocytes and in fibroblasts has been observed in females with IP2; however, sample sizes have been small and methods of analysis varied. We have examined X-inactivation in a large group of multigenerational IP2 families, in smaller families, and in isolated cases. Ninety-eight percent of affected females in multigenerational IP2 pedigrees show completely skewed patterns of X-inactivation, while only approximately 10% of a normal control population is skewed. Results both in small families and in new mutation cases with subsequent segregation consistent with Xq28 linkage are similar. Isolated cases show a lower percentage (85%) of skewed affected individuals; this difference may be due to inaccurate clinical ascertainment. The parent of origin of new mutations could be determined in 15 families; paternal new mutations were twice as common as maternal. Fibroblast subclones from a biopsy at the boundary of a skin lesion in a newborn IP2 patient were isolated, and clones with either one or the other X active were identified, demonstrating that cells with the active disease-bearing X chromosome are still present in stage I skin lesions.

    Title Recent Advances in Craniofacial Genetics.
    Date February 1997
    Journal The Journal of Craniofacial Surgery
    Title Gonadal Mosaicism for Incontinentia Pigmenti in a Healthy Male.
    Date April 1996
    Journal Journal of Medical Genetics

    Incontinentia pigmenti (IP) is a genodermatosis that segregates as an X linked dominant trait with male lethality. The disease has been linked to Xq28 in a number of studies. A few affected males have been documented, most of whom have a 47,XXY karyotype. We report a family with two paternally related half sisters, each affected with IP. The father is healthy, clinically normal, and has a 46,XY normal male karyotype. Linkage analysis of 12 polymorphic markers (two X linked and 10 autosomal) confirms paternity. X inactivation studies with the human androgen receptor (HUMARA) indicate that the paternal X chromosome is inactivated preferentially in each girl, implying that this chromosome carries the IP mutation, and that the father is a gonadal mosaic for the IP mutation.

    Title Adrenal Crisis in the Newborn: Details Leading to the Correct Diagnosis.
    Date May 1995
    Journal The Journal of Clinical Endocrinology and Metabolism
    Title Arginase Deficiency Presenting As Cerebral Palsy.
    Date May 1993
    Journal Pediatrics
    Title Involvement of the Thymus and Cellular Immune System in Craniofacial Malformation Syndromes.
    Date July 1991
    Journal The Journal of Craniofacial Surgery

    Craniofacial structures, the aortic arch, thymus, and parathyroid glands all arise from the embryologic pharyngeal pouches, and DiGeorge and Job craniofacial malformation syndromes have defined immunologic deficiencies. The question addressed by this study is whether patients with other pharyngeal pouch malformations could also have immunologic abnormalities. Twelve patients, 4 female and 8 male, were selected at random from the Tampa Bay Craniofacial Center. Their diagnoses included: cleft lip/cleft palate, hemifacial microsomia/Goldenhar syndrome, Treacher-Collins syndrome, craniofacial hemangiomata, cranio-synostosis syndromes, and Tessier 13 cleft. Fresh blood samples were analyzed against age-matched controls for immunoglobin number, using immunoelectrophoresis, T-cell, B-cell, and natural killer cell quantity via Coulter counter and monoclonal antibody labeling, as well as lymphocyte stimulation and response functions with phytohemagglutinin, concanavalin A, pokeweed mitogen, and Staphylococcus aureus mitogens. All patients studied had some abnormality of their immune systems. Seven had specific T-cell abnormalities and three patients had abnormalities in all three categories studied. This indicates that patients with any pharyngeal pouch malformation may have an abnormality of the immune system.

    Title Alcohol Consumption by Women Before and During Pregnancy.
    Journal Maternal and Child Health Journal

    Objectives To determine the prevalence, patterns, and predictors of alcohol consumption prior to and during various intervals of pregnancy in the U.S. Methods Alcohol-related, pregnancy-related, and demographic data were derived from computer-assisted telephone interviews with 4,088 randomly selected control mothers from the National Birth Defects Prevention Study who delivered live born infants without birth defects during 1997-2002. Alcohol consumption rates and crude and adjusted odds ratios (OR) were calculated. Results 30.3% of all women reported drinking alcohol at some time during pregnancy, of which 8.3% reported binge drinking (4+ drinks on one occasion). Drinking rates declined considerably after the first month of pregnancy, during which 22.5% of women reported drinking, although 2.7% of women reported drinking during all trimesters of pregnancy and 7.9% reported drinking during the 3rd trimester. Pre-pregnancy binge drinking was a strong predictor of both drinking during pregnancy (adjusted OR = 8.52, 95% CI = 6.67-10.88) and binge drinking during pregnancy (adjusted OR = 36.02, 95% CI = 24.63-52.69). Other characteristics associated with both any drinking and binge drinking during pregnancy were non-Hispanic white race/ethnicity, cigarette smoking during pregnancy, and having an unintended pregnancy. Conclusions Our study revealed that drinking during pregnancy is fairly common, three times the levels reported in surveys that ask only about drinking during the month before the survey. Women who binge drink before pregnancy are at particular risk for drinking after becoming pregnant. Sexually active women of childbearing ages who drink alcohol should be advised to use reliable methods to prevent pregnancy, plan their pregnancies, and stop drinking before becoming pregnant.

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