Jacob Hogue

Brooke Army Medical Center, Houston, Texas, United States

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Publications (10)19.74 Total impact

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    ABSTRACT: Hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia (ED), which encompasses a large group of syndromes that share several phenotypic features such as missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. X-linked hypohidrotic ectodermal dysplasia (XL-HED) is associated with mutations in ectodysplasin (EDA1). Hypohidrosis due to hypoplastic sweat glands and thin, sparse hair are phenotypic features that significantly affect the daily lives of XL-HED individuals and therefore require systematic analysis. We sought to determine the quality of life of individuals with XL-HED and to quantify sweat duct and hair phenotypes using confocal imaging, pilocarpine iontophoresis, and phototrichogram analysis. Using these highly sensitive and non-invasive techniques, we demonstrated that 11/12 XL-HED individuals presented with a complete absence of sweat ducts and that none produced sweat. We determined that the thin hair phenotype observed in XL-HED was due to multiple factors, such as fewer terminal hairs with decreased thickness and slower growth rate, as well as fewer follicular units and fewer hairs per unit. The precise characterization of XL-HED phenotypes using sensitive and non-invasive techniques presented in our study will improve upon larger genotype-phenotype studies and the assessment of future therapies in XL-HED. © 2013 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part A 05/2013; · 2.30 Impact Factor
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    ABSTRACT: We present two patients with Atelosteogenesis Type I (AO type I) caused by two novel Filamin B (FLNB) mutations affecting the same FLNB residue: c.542G > A, predicting p.Gly181Asp and c.542G > C, predicting p.Gly181Arg. Both children had typical manifestations of AO type I, with severe rhizomelic shortening of the extremities, limited elbow and knee extension with mild webbing, pectus excavatum, broad thumbs with brachydactyly that was most marked for digits 3-5, dislocated hips and bilateral talipes equinovarus. Facial features included proptosis, hypertelorism, downslanting palpebral fissures, cleft palate, and retromicrognathia. The clinical course of one child was influenced by airway instability and bronchopulmonary dysplasia that complicated intubation and prevented separation from ventilator support. Respiratory insufficiency with tracheal hypoplasia, laryngeal stenosis, and pulmonary hypoplasia have all been described in patients with AO type I and we conclude that compromised pulmonary function is a major contributor to morbidity and mortality in this condition. © 2013 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part A 03/2013; 161(3):619-25. · 2.30 Impact Factor
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    ABSTRACT: We describe a rare case of multiple intestinal atresias, congenital bilateral perisylvian polymicrogyria, and chronic pulmonary hypertension in a surviving monochorionic twin with co-twin demise. This constellation of congenital anomalies represents a multiple vascular disruption syndrome due to intrauterine vascular compromise in the setting of possible twin-to-twin transfusion syndrome.
    Journal of Pediatric Surgery 10/2012; 47(10):1938-42. · 1.38 Impact Factor
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    ABSTRACT: Congenital diaphragmatic hernia (CDH) is a life threatening birth defect. Most of the genetic factors that contribute to the development of CDH remain unidentified. To identify genomic alterations that contribute to the development of diaphragmatic defects. A cohort of 45 unrelated patients with CDH or diaphragmatic eventrations was screened for genomic alterations by array comparative genomic hybridisation or single nucleotide polymorphism based copy number analysis. Genomic alterations that were likely to have contributed to the development of CDH were identified in 8 patients. Inherited deletions of ZFPM2 were identified in 2 patients with isolated diaphragmatic defects and a large de novo 8q deletion overlapping the same gene was found in a patient with non-isolated CDH. A de novo microdeletion of chromosome 1q41q42 and two de novo microdeletions on chromosome 16p11.2 were identified in patients with non-isolated CDH. Duplications of distal 11q and proximal 13q were found in a patient with non-isolated CDH and a de novo single gene deletion of FZD2 was identified in a patient with a partial pentalogy of Cantrell phenotype. Haploinsufficiency of ZFPM2 can cause dominantly inherited isolated diaphragmatic defects with incomplete penetrance. These data define a new minimal deleted region for CDH on 1q41q42, provide evidence for the existence of CDH related genes on chromosomes 16p11.2, 11q23-24 and 13q12, and suggest a possible role for FZD2 and Wnt signalling in pentalogy of Cantrell phenotypes. These results demonstrate the clinical utility of screening for genomic alterations in individuals with both isolated and non-isolated diaphragmatic defects.
    Journal of Medical Genetics 05/2011; 48(5):299-307. · 5.70 Impact Factor
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    ABSTRACT: We report on the occurrence of congenital diaphragmatic hernia in a family with craniofrontonasal syndrome found to have a previously unreported mutation in EFNB1. The female proband presented with hypertelorism, telecanthus, bifid nasal tip, widow's peak, frontal bossing, and a widened metopic suture. Her father was noted to have hypertelorism, telecanthus, widow's peak, and a history of pectus carinatum. He was found to have a previously unreported mutation in exon 5 of EFNB1 predicted to cause premature protein truncation. The parents of the proband previously had a female fetus with congenital diaphragmatic hernia. The occurrence of congenital diaphragmatic hernia, phenotypic differences between males and females, and utility of molecular testing in craniofrontonasal syndrome are demonstrated.
    American Journal of Medical Genetics Part A 10/2010; 152A(10):2574-7. · 2.30 Impact Factor
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    ABSTRACT: Duplication 9p syndrome (partial trisomy 9p) is characterized by craniofacial anomalies, mental retardation, and distal phalangeal hypoplasia. Here, we present a female patient with microcephaly and incomplete bilateral cleft lip and palate, whose initial cytogenetic analysis revealed a de novo trisomy 9p. The patient, now 21 years old, has persistent microcephaly, craniofacial and hand anomalies, history of a seizure disorder, and global mental retardation. Oligonucleotide-based array comparative genomic hybridization was performed and revealed partial trisomy 9p21.1->9pter and a deletion of 9p12.1 to 9p11.2. Our case supports the utility of array comparative genomic hybridization for the precise characterization of chromosomal anomalies and for the ascertainment of genotype-phenotype correlation in patients with partial trisomy 9p.
    The Journal of craniofacial surgery 09/2010; 21(5):1376-9. · 0.81 Impact Factor
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    ABSTRACT: We investigated the proportion of methicillin-resistant Staphylococcus aureus (MRSA) isolates from pediatric patients demonstrating mupirocin resistance related to mupirocin use at our institution. No mupirocin resistance was found in 98% of isolates, whereas mupirocin prescriptions increased by 110%. Resistance rates remained low despite the increasing use of mupirocin.
    Journal of clinical microbiology 07/2010; 48(7):2599-600. · 4.16 Impact Factor
  • Molecular Genetics and Metabolism - MOL GENET METAB. 01/2009; 96(2).
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    ABSTRACT: Mupirocin is an antibiotic used for eradication and infection control of methicillin-resistant Staphylococcus aureus (MRSA). Mupirocin binds to the bacterial isoleucyl tRNA synthetase, thus disrupting bacterial protein synthesis. Four hundred nine MRSA clinical isolates collected in 2006 and 2007 at Madigan Army Medical Center were screened for mupirocin resistance by E test and polymerase chain reaction; 7 MRSA isolates (1.7%) were found to be fully resistant to mupirocin (minimum inhibitory concentration [MIC] by E test: > 1,024 microg/mL), 10 isolates (2.4%) had MIC values of 1 to 32 microg/mL, while 392 MRSA isolates (95.9%) had MIC values of < 1 microg/mL. No trend of increased mupirocin resistance was found when compared with subsequent years. These results show that mupirocin remains a valid infection control measure due to its unique mechanism of action and the high susceptibility rate of MRSA isolates. In addition, rapid screening by polymerase chain reaction of MRSA shows promise in assessing the fully resistant mupirocin phenotype.
    Military medicine 07/2008; 173(6):604-8. · 0.77 Impact Factor
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    ABSTRACT: Background: Mupirocin is a topical antibiotic used to treat Staphylococcus nasal carriage. With the rise in methicillin resistant Staphylococcus aureus (MRSA), mupirocin use has been increasing. Rates of mupirocin resistance have been shown to correlate with increased use in closed inpatient settings. We investigated the proportion of MRSA demonstrating resistance to mupirocin among predominantly outpatient isolates identified at our institution. Methods: We screened MRSA clinical specimens collected Nov 2005 - Jan 2007 for mupirocin resistance by E-test. We categorized isolates as mupirocin susceptible (MIC <1 µg/ml), intermediately resistant (MIC 1-16 µg/ml), and highly resistant (MIC >16 µg/ml). All mupirocin resistant isolates underwent PCR testing using primers for the ileS-2 gene conferring high level mupirocin resistance. Patient charts were reviewed for antibiotic use, infection site and demographics. We reviewed our pharmacy database for mupirocin use for the past 5 years. Results: We assessed 187 MRSA clinical specimens: 184 were designated community acquired MRSA based on antibiotic susceptibility profiles. The median age of the patients was 24 yr, 63% were male, and 80% were outpatients. No mupirocin resistance was found in 178 (95.2%) isolates, 5 (2.7%) had intermediate resistance, and 4 (2.1%) were highly resistant. None of the patients harboring highly resistant isolates had been prescribed mupirocin in the past year. Resistance did not increase over the time studied. The ileS-2 gene was demonstrated only in the highly resistant specimens. Mupirocin prescriptions at our institution increased by 90.5% over the past 5 years. Conclusion: MRSA mupirocin resistance rates have remained low in our population despite nearly doubled use over the past 5 years; mupirocin currently remains an effective tool for eradication of MRSA in our community. Our PCR reliably detected high level resistance. Mupirocin resistance should be monitored as usage continues to be high, and clonal spread of ileS-2 strains is a potential concern.
    Infectious Diseases Society of America 2007 Annual Meeting; 10/2007

Publication Stats

32 Citations
19.74 Total Impact Points

Institutions

  • 2013
    • Brooke Army Medical Center
      Houston, Texas, United States
  • 2010–2011
    • University of California, San Francisco
      • Department of Pediatrics
      San Francisco, California, United States
    • Penn State Hershey Medical Center and Penn State College of Medicine
      Hershey, Pennsylvania, United States
  • 2007
    • Madigan Army Medical Center
      Tacoma, Washington, United States