Publications by authors named "Galen M Schauer"

6 Publications

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Fetomaternal hemorrhage: evaluation of recurrence within a large integrated healthcare system.

Am J Obstet Gynecol 2021 May 4. Epub 2021 May 4.

Department of Pathology, Kaiser Permanente Oakland Medical Center, Oakland, CA.

Background: Fetomaternal hemorrhage is associated with severe fetal morbidity and mortality. The recurrence risk of fetomaternal hemorrhage is unknown.

Objective: We sought to establish the recurrence rate of fetomaternal hemorrhage in a large integrated healthcare system over a 10-year period.

Study Design: In this retrospective study within the Kaiser Permanente Northern California medical system, cases of fetomaternal hemorrhage were defined by either an elevated fetal hemoglobin level as determined by flow cytometry for a concerning pregnancy outcome (preterm delivery, perinatal demise, neonatal anemia, or transfusion within the first 2 days of life) or by perinatal demise with autopsy findings suggestive of fetomaternal hemorrhage. The outcomes of subsequent pregnancies were reviewed for features of recurrence.

Results: Within the 2008 to 2018 birth cohort of 375,864 pregnancies, flow cytometry testing for fetal hemoglobin levels was performed in 20,582 pregnancies. We identified 340 cases of fetomaternal hemorrhage (approximately 1 in 1100 births). Within the cohort of 340 affected pregnancies, perinatal loss was recorded for 80 (23.5%) pregnancies and 50 (14.7%) pregnancies delivered neonates who required transfusion. The affected patients had 225 subsequent pregnancies of which 210 were included in the analysis. Of these, 174 (82.9%) advanced beyond the threshold of viability and were delivered within our healthcare system. There was 1 case of recurrent fetomaternal hemorrhage identified. The recurrent case involved a spontaneous preterm delivery of an infant who was noted to have an elevated reticulocyte count but was clinically well.

Conclusion: Within our large integrated healthcare system, approximately 1 in 1100 pregnancies was affected by fetomaternal hemorrhage within a 10-year period, which is comparable with previous studies. We identified 1 case of recurrence, yielding a recurrence rate of 0.5%. This infant did not have features of clinically important fetomaternal hemorrhage. This information can inform counseling of patients with affected pregnancies.
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http://dx.doi.org/10.1016/j.ajog.2021.04.257DOI Listing
May 2021

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Am J Hum Genet 2019 02 10;104(2):213-228. Epub 2019 Jan 10.

Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000 Nantes, France.

Primary defects in lung branching morphogenesis, resulting in neonatal lethal pulmonary hypoplasias, are incompletely understood. To elucidate the pathogenetics of human lung development, we studied a unique collection of samples obtained from deceased individuals with clinically and histopathologically diagnosed interstitial neonatal lung disorders: acinar dysplasia (n = 14), congenital alveolar dysplasia (n = 2), and other lethal lung hypoplasias (n = 10). We identified rare heterozygous copy-number variant deletions or single-nucleotide variants (SNVs) involving TBX4 (n = 8 and n = 2, respectively) or FGF10 (n = 2 and n = 2, respectively) in 16/26 (61%) individuals. In addition to TBX4, the overlapping ∼2 Mb recurrent and nonrecurrent deletions at 17q23.1q23.2 identified in seven individuals with lung hypoplasia also remove a lung-specific enhancer region. Individuals with coding variants involving either TBX4 or FGF10 also harbored at least one non-coding SNV in the predicted lung-specific enhancer region, which was absent in 13 control individuals with the overlapping deletions but without any structural lung anomalies. The occurrence of rare coding variants involving TBX4 or FGF10 with the putative hypomorphic non-coding SNVs implies a complex compound inheritance of these pulmonary hypoplasias. Moreover, they support the importance of TBX4-FGF10-FGFR2 epithelial-mesenchymal signaling in human lung organogenesis and help to explain the histopathological continuum observed in these rare lethal developmental disorders of the lung.
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http://dx.doi.org/10.1016/j.ajhg.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369446PMC
February 2019

Small patients, complex challenging cases: a reappraisal of the professional efforts in perinatal autopsies.

Arch Pathol Lab Med 2014 Jul 3;138(7):865-8. Epub 2014 Feb 3.

From the Division of Pathology Hospital for Sick Children, Toronto, Ontario, Canada (Dr Taylor); the Department of Pathology, University of Alabama at Birmingham (Dr Faye-Petersen); the Department of Pathology, Northwestern University, Chicago, Illinois (Dr Ernst); the Department of Pathology, University of Virginia, Charlottesville (Dr LeGallo); the Department of Pathology, Kaiser Oakland Medical Center, Oakland, California (Dr Schauer); the Department of Pathology & Laboratory Medicine, North Shore-LIJ Health System and Hofstra North Shore-LIJ School of Medicine, New Hyde Park, New York (Dr Williamson); and the Department of Pathology, Children's Hospital of Minnesota, Minneapolis (Dr Pacheco).

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http://dx.doi.org/10.5858/arpa.2013-0284-EDDOI Listing
July 2014

Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1.

Acta Neuropathol 2009 Oct 27;118(4):531-9. Epub 2009 Jun 27.

Department of Pathology, School of Medicine, Wayne State University, Detroit, MI, USA.

Mutations affecting proteolipid protein 1 (PLP1), the major protein in central nervous system myelin, cause the X-linked leukodystrophy Pelizaeus-Merzbacher disease (PMD). We describe the neuropathologic findings in a series of eight male PMD subjects with confirmed PLP1 mutations, including duplications, complete gene deletion, missense and exon-skipping. While PLP1 mutations have effects on oligodendrocytes that result in mutation-specific degrees of dysmyelination, our findings indicate that there are also unexpected effects in the central nervous system resulting in neuronal loss. Although length-dependent axonal degeneration has been described in PLP1 null mutations, there have been no reports on neuronal degeneration in PMD patients. We now demonstrate widespread neuronal loss in PMD. The patterns of neuronal loss appear to be dependent on the mutation type, suggesting selective vulnerability of neuronal populations that depends on the nature of the PLP1 disturbance. Nigral neurons, which were not affected in patients with either null or severe misfolding mutations, and thalamic neurons appear particularly vulnerable in PLP1 duplication and deletion patients, while hippocampal neuronal loss was prominent in a patient with complete PLP1 gene deletion. All subjects showed cerebellar neuronal loss. The patterns of neuronal involvement may explain some clinical findings, such as ataxia, being more prominent in PMD than in other leukodystrophies. While the precise pathogenetic mechanisms are not known, these observations suggest that defective glial functions contribute to neuronal pathology.
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http://dx.doi.org/10.1007/s00401-009-0562-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3876935PMC
October 2009

Dental (odontogenic) choristoma of the tongue.

J Oral Maxillofac Surg 2009 May;67(5):1135-8

Division of Oral and Maxillofacial Pathology, University of Minnesota, Minneapolis, MN 55455, USA.

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http://dx.doi.org/10.1016/j.joms.2008.08.020DOI Listing
May 2009

Craniosynostosis: another feature of the 22q11.2 deletion syndrome.

Am J Med Genet A 2005 Aug;136A(4):358-62

Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

We report on the presence of craniosynostosis in four patients with the 22q11.2 deletion. In light of previous reports of the association, we propose that the occurrence is higher than the general population incidence. Therefore, we suggest that craniosynostosis should be considered a manifestation of the 22q11.2 deletion and conversely that the 22q11.2 deletion should be considered in the differential diagnosis of craniosynostosis.
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http://dx.doi.org/10.1002/ajmg.a.30746DOI Listing
August 2005
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