Publications by authors named "Courtney Carpenter"

6 Publications

  • Page 1 of 1

Variations in Postoperative Management of Pediatric Open-Vault Craniosynostosis.

J Craniofac Surg 2021 Jan-Feb 01;32(1):305-309

Division of Plastic Surgery, Albany Medical Center, Albany, NY.

Abstract: Craniosynostosis is the premature fusion of 1 or more of the calvarial sutures causing a secondary distortion of the skull shape due to lack of growth perpendicular to the fused suture and compensatory overgrowth parallel to the suture. Open vault craniosynostosis repair requires extensive dissection and reshaping of the skull and can be associated with significant pain, commonly undervalued, and underreported in the pediatric cohort. Although there is an extensive body of literature focusing on the operative treatment of craniosynostosis, there is little consensus about optimal postoperative management protocols, including pain control regimens. The purpose of this study was to assess variation in immediate postoperative management protocols within the United States. A Qualtrics-based survey was submitted to all 112 American Cleft Palate-Craniofacial Association-approved craniofacial teams regarding their routine postoperative management protocol. Nineteen responses were obtained. All surgeons reported routine post-op intensive care unit stay. Mean overall length of stay was 3.5 days. Pain control agents included acetaminophen (100%), intravenous opioids (95%), oral opioids (79%), and ketorolac (53%). Eighty-eight percent of surgeons reported utilizing vital signs and observational parameters for pain assessment with 47% reporting the use of a formal pain scale. Sixty-three percent of those surveyed used a drain, 88% used a foley catheter, 75% used postoperative prophylactic antibiotics, and 75% routinely used arterial line monitoring postoperatively. The results of this survey will be the basis for future direction in understanding the efficacy of differing management protocols and further study of pain management in the pediatric craniosynostosis population.
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http://dx.doi.org/10.1097/SCS.0000000000007094DOI Listing
September 2020

Current Trends in Management of Marjolin's Ulcer: A Systematic Review.

J Burn Care Res 2021 Mar;42(2):144-151

Division of Plastic Surgery, Albany Medical Center.

Marjolin's ulcer (MU) is a rare, aggressive entity with frequent delay in diagnosis for a variety of regions. Although well described and classically taught in medical school, aspects of its treatment remain ill-defined and controversial. A systematic review was performed according to PRISMA guidelines to identify studies discussing patients who underwent surgical treatment of MU. A total of 31 papers, reporting on 1016 patients, were included. Burns were the most common etiology of malignant degeneration (68%), followed by trauma. The lower extremity was most affected (51%) and Squamous Cell Carcinoma (SCC) was found in 94% of cases, with the majority being well differentiated. Basal cell carcinoma and melenoma composed a minority of cases. Melanoma occurred more frequently in previously skin grafted wounds and had a higher rate of metastases than SCC. Most patients did not have associated regional or distant metastases present at diagnosis. Wide local excision (71%) was performed in most cases, unless amputation was indicated for severe disease or bone involvement. Lymphadenectomy and sentinel lymph node biopsy were variably reported, with conflicting evidence on the efficacy. Lymphadenectomy was most commonly indicated for known lymph node involvement. In cases of metastatic disease chemotherapy and radiation were used in conjunction with surgical treatment. Despite numerous articles on this topic, controversy remains in the management of MU. Early diagnosis of suspicious chronic wounds and prompt surgical intervention remains imperative to its treatment.
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http://dx.doi.org/10.1093/jbcr/iraa128DOI Listing
March 2021

Tbx1 is required autonomously for cell survival and fate in the pharyngeal core mesoderm to form the muscles of mastication.

Hum Mol Genet 2014 Aug 4;23(16):4215-31. Epub 2014 Apr 4.

Department of Genetics, Albert Einstein College of Medicine, 1301 Morris Park Avenue, Bronx, NY 10461, USA,

Velo-cardio-facial/DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a congenital anomaly disorder characterized by craniofacial anomalies including velo-pharyngeal insufficiency, facial muscle hypotonia and feeding difficulties, in part due to hypoplasia of the branchiomeric muscles. Inactivation of both alleles of mouse Tbx1, encoding a T-box transcription factor, deleted on chromosome 22q11.2, results in reduction or loss of branchiomeric muscles. To identify downstream pathways, we performed gene profiling of microdissected pharyngeal arch one (PA1) from Tbx1(+/+) and Tbx1(-/-) embryos at stages E9.5 (somites 20-25) and E10.5 (somites 30-35). Basic helix-loop-helix (bHLH) transcription factors were reduced, while secondary heart field genes were increased in expression early and were replaced by an increase in expression of cellular stress response genes later, suggesting a change in gene expression patterns or cell populations. Lineage tracing studies using Mesp1(Cre) and T-Cre drivers showed that core mesoderm cells within PA1 were present at E9.5 but were greatly reduced by E10.5 in Tbx1(-/-) embryos. Using Tbx1(Cre) knock-in mice, we found that cells are lost due to apoptosis, consistent with increase in expression of cellular stress response genes at E10.5. To determine whether Tbx1 is required autonomously in the core mesoderm, we used Mesp1(Cre) and T-Cre mesodermal drivers in combination with inactivate Tbx1 and found reduction or loss of branchiomeric muscles from PA1. These mechanistic studies inform us that Tbx1 is required upstream of key myogenic genes needed for core mesoderm cell survival and fate, between E9.5 and E10.5, resulting in formation of the branchiomeric muscles.
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http://dx.doi.org/10.1093/hmg/ddu140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4103673PMC
August 2014

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

Am J Med Genet A 2012 Nov 3;158A(11):2781-7. Epub 2012 Oct 3.

Department of Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA.

Velo-cardio-facial syndrome/DiGeorge syndrome, also known as 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome, with an estimated incidence of 1/2,000-1/4,000 live births. Approximately 9-11% of patients with this disorder have an overt cleft palate (CP), but the genetic factors responsible for CP in the 22q11DS subset are unknown. The TBX1 gene, a member of the T-box transcription factor gene family, lies within the 22q11.2 region that is hemizygous in patients with 22q11DS. Inactivation of one allele of Tbx1 in the mouse does not result in CP, but inactivation of both alleles does. Based on these data, we hypothesized that DNA variants in the remaining allele of TBX1 may confer risk to CP in patients with 22q11DS. To test the hypothesis, we evaluated TBX1 exon sequencing (n = 360) and genotyping data (n = 737) with respect to presence (n = 54) or absence (n = 683) of CP in patients with 22q11DS. Two upstream SNPs (rs4819835 and rs5748410) showed individual evidence for association but they were not significant after correction for multiple testing. Associations were not identified between DNA variants and haplotypes in 22q11DS patients with CP. Overall, this study indicates that common DNA variants in TBX1 may be nominally causative for CP in patients with 22q11DS. This raises the possibility that genes elsewhere on the remaining allele of 22q11.2 or in the genome could be relevant.
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http://dx.doi.org/10.1002/ajmg.a.35512DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477281PMC
November 2012

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

Hum Mutat 2011 Nov 16;32(11):1278-89. Epub 2011 Sep 16.

Department of Genetics, Ob/Gyn and Pediatrics, Albert Einstein College of Medicine, Bronx, New York, USA.

Haploinsufficiency of TBX1, encoding a T-box transcription factor, is largely responsible for the physical malformations in velo-cardio-facial /DiGeorge/22q11.2 deletion syndrome (22q11DS) patients. Cardiovascular malformations in these patients are highly variable, raising the question as to whether DNA variations in the TBX1 locus on the remaining allele of 22q11.2 could be responsible. To test this, a large sample size is needed. The TBX1 gene was sequenced in 360 consecutive 22q11DS patients. Rare and common variations were identified. We did not detect enrichment in rare SNP (single nucleotide polymorphism) number in those with or without a congenital heart defect. One exception was that there was increased number of very rare SNPs between those with normal heart anatomy compared to those with right-sided aortic arch or persistent truncus arteriosus, suggesting potentially protective roles in the SNPs for these phenotype-enrichment groups. Nine common SNPs (minor allele frequency, MAF > 0.05) were chosen and used to genotype the entire cohort of 1,022 22q11DS subjects. We did not find a correlation between common SNPs or haplotypes and cardiovascular phenotype. This work demonstrates that common DNA variations in TBX1 do not explain variable cardiovascular expression in 22q11DS patients, implicating existence of modifiers in other genes on 22q11.2 or elsewhere in the genome.
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http://dx.doi.org/10.1002/humu.21568DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3196824PMC
November 2011

Mesodermal Tbx1 is required for patterning the proximal mandible in mice.

Dev Biol 2010 Aug 23;344(2):669-81. Epub 2010 May 23.

Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.

Defects in the lower jaw, or mandible, occur commonly either as isolated malformations or in association with genetic syndromes. Understanding its formation and genetic pathways required for shaping its structure in mammalian model organisms will shed light into the pathogenesis of malformations in humans. The lower jaw is derived from the mandibular process of the first pharyngeal arch (MdPA1) during embryogenesis. Integral to the development of the mandible is the signaling interplay between Fgf8 and Bmp4 in the rostral ectoderm and their downstream effector genes in the underlying neural crest derived mesenchyme. The non-neural crest MdPA1 core mesoderm is needed to form muscles of mastication, but its role in patterning the mandible is unknown. Here, we show that mesoderm specific deletion of Tbx1, a T-box transcription factor and gene for velo-cardio-facial/DiGeorge syndrome, results in defects in formation of the proximal mandible by shifting expression of Fgf8, Bmp4 and their downstream effector genes in mouse embryos at E10.5. This occurs without significant changes in cell proliferation or apoptosis at the same stage. Our results elucidate a new function for the non-neural crest core mesoderm and specifically, mesodermal Tbx1, in shaping the lower jaw.
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http://dx.doi.org/10.1016/j.ydbio.2010.05.496DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2917794PMC
August 2010