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Article ; Online: Pediatric Tenosynovial Giant Cell Tumor of the Flexor Hallucis Longus Tendon Sheath: A Case Report.

Williams, Richard D / Honeycutt, M Wesley / Manci, Elizabeth A / Nimityongskul, Prasit

JBJS case connector

2020 Volume 10, Issue 2, Page(s) e0519

Abstract: Case: An otherwise healthy 13-year-old girl presented with a firm nodule on the plantar right forefoot that was tender after cheerleading. Initial workup was unremarkable, but magnetic resonance imaging revealed a multilobulated mass surrounding the ... ...

Abstract	Case: An otherwise healthy 13-year-old girl presented with a firm nodule on the plantar right forefoot that was tender after cheerleading. Initial workup was unremarkable, but magnetic resonance imaging revealed a multilobulated mass surrounding the flexor hallucis longus tendon. Surgical resection revealed a tenosynovial mass without tendon infiltration. Pathologic examination was consistent with tenosynovial giant cell tumor. The patient resumed cheerleading and remained asymptomatic after 1 year. Conclusion: As far as we know, this is the first report of a tenosynovial giant cell tumor of the flexor hallucis longus in a pediatric patient; it illustrates the importance of considering this lesion when diagnosing a pediatric plantar mass.
MeSH term(s)	Adolescent ; Female ; Foot/diagnostic imaging ; Foot/pathology ; Foot/surgery ; Giant Cell Tumor of Tendon Sheath/diagnostic imaging ; Giant Cell Tumor of Tendon Sheath/pathology ; Giant Cell Tumor of Tendon Sheath/surgery ; Humans ; Magnetic Resonance Imaging
Language	English
Publishing date	2020-07-07
Publishing country	United States
Document type	Case Reports ; Journal Article
ISSN	2160-3251
ISSN (online)	2160-3251
DOI	10.2106/JBJS.CC.19.00519
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Article ; Online: Neonatal Myocardial Ischemia-Reperfusion Injury: A Proposed Pathogenic Sequence in the Context of Maternal/Fetal Vascular Malperfusion and Paradoxical Embolism.

Manci, Elizabeth A / Dolma, Kalsang / Manjunath, Chaitra / Liu, Shou-Shawn / Galliani, Carlos A / Bhat, Ramachandra

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

2021 Volume 25, Issue 2, Page(s) 162–167

Abstract: Background: Neonatal myocardial infarction (MI) in a structurally normal heart is frequently an obscure event that remains undiagnosed until autopsy. Causal attributions usually cite underlying maternal or fetal conditions. Refinement in understanding ... ...

Abstract	Background: Neonatal myocardial infarction (MI) in a structurally normal heart is frequently an obscure event that remains undiagnosed until autopsy. Causal attributions usually cite underlying maternal or fetal conditions. Refinement in understanding of pathogenic mechanisms underlying neonatal MI is key to advancements in diagnosis, prevention, treatments and prognosis. Objective: This study presents a 36-week gestational age female with perinatal asphyxia, congenital hemolytic anemia and umbilical vein thrombosis who sustained catastrophic MI with reperfusion injury; and it reviews pertinent literature. Results: We propose a pathogenic sequence that links maternal vascular malperfusion, fetal vascular malperfusion, hemolytic anemia, umbilical venous thrombosis, and paradoxical thromboemboli. Conclusion: This case highlights the importance of placental examination in connecting complex neonatal events with adverse maternal/placental conditions. A high index of suspicion is essential for early diagnosis of neonatal MI.
MeSH term(s)	Embolism, Paradoxical/pathology ; Female ; Fetal Diseases/pathology ; Gestational Age ; Humans ; Infant, Newborn ; Myocardial Reperfusion Injury/pathology ; Placenta/pathology ; Pregnancy ; Venous Thrombosis/pathology
Language	English
Publishing date	2021-09-22
Publishing country	United States
Document type	Journal Article
ZDB-ID	1463498-3
ISSN	1615-5742 ; 1093-5266
ISSN (online)	1615-5742
ISSN	1093-5266
DOI	10.1177/10935266211042210
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Article ; Online: Congenital granular cell epulis: 24 new cases with more differences than similarities to granular cell tumor.

Avalos, Hernandez Sara / Manci, Elizabeth / Mulekar, Madhuri / Finnegan, Aisling / Barui, Sandip / Galliani, Carlos / Kelly, David / Herrera, Guillermo A

Ultrastructural pathology

2022 Volume 46, Issue 4, Page(s) 388–400

Abstract: Congenital granular cell epulis (CGCE) is a rare tumor of gingiva that is exclusive to newborns, has marked female predominance, and is rarely associated with other abnormalities. Although benign in behavior, CGCE can be lethal by obstruction of ... ...

Abstract	Congenital granular cell epulis (CGCE) is a rare tumor of gingiva that is exclusive to newborns, has marked female predominance, and is rarely associated with other abnormalities. Although benign in behavior, CGCE can be lethal by obstruction of respiration and/or deglutition and can require a multidisciplinary team of specialist at birth for survival of an otherwise normal infant. Histologically, CGCE resembles granular cell tumor (GCT), but unlike GCT, which is Schwannian-derived, derivation of CGCE remains an enigma, largely because of its low prevalence. This study presents 24 new cases of CGCE, the largest series since the original description 150 years ago and permits detailed study of homogeneity of cases diagnosed as CGCE as well as detailed comparisons of CGCE with GCT by clinical, morphological, immunohistochemical, and ultrastructural studies. The data show homogeneity within the CGCE cases, more differences than similarities between CGCE and GCT, and no immunohistochemical staining for common placental proteins/hormones in CGCE. The findings support a primitive mesenchymal cell origin, and a progressive degenerative process in CGCE, rather than neoplasia. Prenatal detection of this lesion is important to facilitate adequate preparations for support of these infants during labor and delivery.
MeSH term(s)	Female ; Gingival Neoplasms/congenital ; Gingival Neoplasms/diagnosis ; Gingival Neoplasms/pathology ; Granular Cell Tumor/pathology ; Hormones ; Humans ; Infant ; Infant, Newborn ; Male ; Placenta/pathology ; Pregnancy ; Staining and Labeling
Chemical Substances	Hormones
Language	English
Publishing date	2022-10-09
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	603269-2
ISSN	1521-0758 ; 0191-3123
ISSN (online)	1521-0758
ISSN	0191-3123
DOI	10.1080/01913123.2022.2107750
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Article: Case series: Five pediatric germ cell/sex cord stroma tumors.

Glasser, James G / Nottingham, James M / Haney, Michael E / Manci, Elizabeth A

Annals of medicine and surgery (2012)

2018 Volume 37, Page(s) 11–20

Abstract: This report consists of five pediatric tumors of ovarian cell lineage.•These unusual, interesting tumors challenge both surgeon and oncologist.•Some appear malignant, seemingly require chemotherapy, but behave with benignity. Some are easily resected; ... ...

Abstract	•This report consists of five pediatric tumors of ovarian cell lineage.•These unusual, interesting tumors challenge both surgeon and oncologist.•Some appear malignant, seemingly require chemotherapy, but behave with benignity. Some are easily resected; others demand the utmost skill.•Complexity perplexes; elucidation is by selection - ignoring some things, attending to others.•Case studies illustrate - for good or ill - the process whereby clinical conundrums are resolved.
Language	English
Publishing date	2018-11-28
Publishing country	England
Document type	Journal Article
ZDB-ID	2745440-X
ISSN	2049-0801
ISSN	2049-0801
DOI	10.1016/j.amsu.2018.11.011
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Article ; Online: Biphasic Postnatal Umbilical Cord Shortening.

Manci, Elizabeth A / Alvarez, Sejal Shah / McClellan, Steven B / Campbell, Pamela Moore / Dasaraju, Sandhya / Winkler, Carey L / Shah, Arvind K

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

2021 Volume 24, Issue 2, Page(s) 116–120

Abstract: Introduction: Variations in postnatal length of refrigerated, unfixed umbilical cords were studied over time to elucidate natural changes and times of stability.: Methods: Length was measured in 132 cords following severance, repeated at varying ... ...

Abstract	Introduction: Variations in postnatal length of refrigerated, unfixed umbilical cords were studied over time to elucidate natural changes and times of stability. Methods: Length was measured in 132 cords following severance, repeated at varying timed intervals and studied by analysis of variance and regression analysis. Results: Data show immediate rapid initial phase shortening (mean 4.2+/-3.9 cm SD); an interval of lengthening; stable length at hours 3-4 following severance, a slower second phase shortening (mean 1.5+/-0.7 cm SD) beginning at 5 hours and peaking at 12 hours; and gradual lengthening to stable length after 23 hours. Overall, there was a significant net mean decrease of 3.49+/-2.29 cm SD. Shortening was greatest for intact long cord segments (p=0.0001), as much as 11 cm. Two highly significant models for predicting umbilical cord length at delivery (OL) were determined using the post-delivery lengths (Length) measured at different times following delivery (Hours), as follows:At ≤ 3 hours following delivery: OL=1.02xLength cm+1.11xHoursAt >3 hours following delivery: OL=1.07xLength+0.44xHours-0.01x(Hours)2. Conclusion: Cord lengths stabilized between hours 3-4 and after 23 hours following severance. Phase one shortening resembles vasoconstriction; phase two resembles rigor mortis. The models allow prediction of the original umbilical cord length at delivery, regardless of the time of measurement.
MeSH term(s)	Female ; Humans ; Infant, Newborn ; Male ; Models, Statistical ; Time Factors ; Tissue Preservation ; Umbilical Cord/anatomy & histology ; Umbilical Cord/pathology
Language	English
Publishing date	2021-01-13
Publishing country	United States
Document type	Journal Article
ZDB-ID	1463498-3
ISSN	1615-5742 ; 1093-5266
ISSN (online)	1615-5742
ISSN	1093-5266
DOI	10.1177/1093526620984258
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Article ; Online: Distal Tibial Chondroblastoma With Intra-articular Penetration Treated With Gelatin Foam Sponge and Bone Grafting.

Pearce, Stephanie / Manci, Elizabeth / Nimityongskul, Prasit

Orthopedics

2019 Volume 42, Issue 4, Page(s) e391–e394

Abstract: A 14-year-old boy presented with sharp left ankle pain for 1.5 years. Evaluation showed an irregular lytic lesion with surrounding sclerosis (diameter, 1.3×1.2×1.1 cm) in the central part of the distal tibial epiphysis, extending from the physis to the ... ...

Abstract	A 14-year-old boy presented with sharp left ankle pain for 1.5 years. Evaluation showed an irregular lytic lesion with surrounding sclerosis (diameter, 1.3×1.2×1.1 cm) in the central part of the distal tibial epiphysis, extending from the physis to the plafond with articular penetration. Treatment included intralesional curettage and bone grafting through a mid-anterior epiphyseal bone tunnel with fluoroscopic guidance and use of a gelatin foam sponge to help contain the bone graft within the epiphyseal cavity. Microscopic examination of the excised tissue was consistent with chondroblastoma. Ankle arthroscopy 11 months later showed that the tibial plafond articular surface was fully healed. Two years postoperatively, the patient was asymptomatic and had no recurrence. This case shows that intralesional curettage and bone grafting, with a gelatin foam sponge to prevent graft extrusion, may be used successfully in treating distal tibial epiphyseal chondroblastoma that penetrates the ankle joint. [Orthopedics. 2019; 42(4):e391-e394.].
MeSH term(s)	Adolescent ; Bone Neoplasms/pathology ; Bone Neoplasms/surgery ; Bone Transplantation ; Chondroblastoma/pathology ; Chondroblastoma/surgery ; Curettage ; Epiphyses/pathology ; Epiphyses/surgery ; Gelatin ; Humans ; Male ; Neoplasm Recurrence, Local/pathology ; Neoplasm Recurrence, Local/surgery ; Tibia/pathology ; Tibia/surgery ; Treatment Outcome
Chemical Substances	Gelatin (9000-70-8)
Language	English
Publishing date	2019-07-26
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	424447-3
ISSN	1938-2367 ; 0147-7447
ISSN (online)	1938-2367
ISSN	0147-7447
DOI	10.3928/01477447-20190624-06
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Zs.A 1487: Show issues

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Article ; Online: Induced pluripotent stem cells derived from human amnion in chemically defined conditions.

Slamecka, Jaroslav / McClellan, Steven / Wilk, Anna / Laurini, Javier / Manci, Elizabeth / Hoerstrup, Simon P / Weber, Benedikt / Owen, Laurie

Cell cycle (Georgetown, Tex.)

2018 Volume 17, Issue 3, Page(s) 330–347

Abstract: Fetal stem cells are a unique type of adult stem cells that have been suggested to be broadly multipotent with some features of pluripotency. Their clinical potential has been documented but their upgrade to full pluripotency could open up a wide range ... ...

Abstract	Fetal stem cells are a unique type of adult stem cells that have been suggested to be broadly multipotent with some features of pluripotency. Their clinical potential has been documented but their upgrade to full pluripotency could open up a wide range of cell-based therapies particularly suited for pediatric tissue engineering, longitudinal studies or disease modeling. Here we describe episomal reprogramming of mesenchymal stem cells from the human amnion to pluripotency (AM-iPSC) in chemically defined conditions. The AM-iPSC expressed markers of embryonic stem cells, readily formed teratomas with tissues of all three germ layers present and had a normal karyotype after around 40 passages in culture. We employed novel computational methods to determine the degree of pluripotency from microarray and RNA sequencing data in these novel lines alongside an iPSC and ESC control and found that all lines were deemed pluripotent, however, with variable scores. Differential expression analysis then identified several groups of genes that potentially regulate this variability in lines within the boundaries of pluripotency, including metallothionein proteins. By further studying this variability, characteristics relevant to cell-based therapies, like differentiation propensity, could be uncovered and predicted in the pluripotent stage.
MeSH term(s)	Amnion/cytology ; Biomarkers/metabolism ; Cell Shape ; Cells, Cultured ; Gene Regulatory Networks ; Humans ; Induced Pluripotent Stem Cells/cytology ; Induced Pluripotent Stem Cells/metabolism ; Mesenchymal Stem Cells/cytology ; Mesenchymal Stem Cells/metabolism ; Teratoma/pathology ; Transcription, Genetic
Chemical Substances	Biomarkers
Language	English
Publishing date	2018-02-07
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2146183-1
ISSN	1551-4005 ; 1538-4101 ; 1554-8627
ISSN (online)	1551-4005
ISSN	1538-4101 ; 1554-8627
DOI	10.1080/15384101.2017.1403690
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Zs.A 5881: Show issues

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Article ; Online: Original Research: Diametric effects of hypoxia on pathophysiology of sickle cell disease in a murine model.

Tan, Fang / Ghosh, Samit / Mosunjac, Mario / Manci, Elizabeth / Ofori-Acquah, Solomon Fiifi

Experimental biology and medicine (Maywood, N.J.)

2016 Volume 241, Issue 7, Page(s) 766–771

Abstract: Hypoxia causes erythrocyte sickling in vitro; however, its role in the pathophysiology of sickle cell disease is poorly understood. We report that hypoxia rapidly decreased oxygen saturation in transgenic sickle cell disease mice, but this effect was ... ...

Abstract	Hypoxia causes erythrocyte sickling in vitro; however, its role in the pathophysiology of sickle cell disease is poorly understood. We report that hypoxia rapidly decreased oxygen saturation in transgenic sickle cell disease mice, but this effect was immediately buffered by a robust ventilatory response. The initial hypoxemia improved steadily throughout the duration of hypoxia without any detectable acute pulmonary adverse effect. Furthermore, the mice suffered acute anemia that ironically was associated with lowering of both plasma hemoglobin and heme. These results were corroborated by increased plasma haptoglobin and hemopexin levels. Markers of ischemic tissue injury increased spatiotemporally following repeated hypoxia exposures. This variation was supported by organ-specific induction of hypoxia-responsive genes. Our results show that hypoxia exerts diametric effects on sickle cell disease by promoting ischemic injury while enhancing the expression of hemolysis scavenger molecules. This phenomenon may help to understand the disparate clinical syndromes associated with hemolysis and vaso-occlusion in sickle cell disease.
MeSH term(s)	Anemia, Sickle Cell/blood ; Anemia, Sickle Cell/complications ; Anemia, Sickle Cell/physiopathology ; Animals ; Bilirubin/blood ; Disease Models, Animal ; Haptoglobins/analysis ; Heme/analysis ; Hemoglobins/analysis ; Hemolysis ; Hemopexin/analysis ; Hypoxia/blood ; Hypoxia/complications ; Hypoxia/physiopathology ; Lung/physiopathology ; Mice ; Mice, Transgenic ; Real-Time Polymerase Chain Reaction
Chemical Substances	Haptoglobins ; Hemoglobins ; Heme (42VZT0U6YR) ; Hemopexin (9013-71-2) ; Bilirubin (RFM9X3LJ49)
Language	English
Publishing date	2016-04
Publishing country	England
Document type	Journal Article
ZDB-ID	4015-0
ISSN	1535-3699 ; 1525-1373 ; 0037-9727
ISSN (online)	1535-3699 ; 1525-1373
ISSN	0037-9727
DOI	10.1177/1535370216642046
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Article ; Online: Sustained treatment of sickle cell mice with haptoglobin increases HO-1 and H-ferritin expression and decreases iron deposition in the kidney without improvement in kidney function.

Shi, Patricia A / Choi, Erika / Chintagari, Narendranath R / Nguyen, Julia / Guo, Xinhua / Yazdanbakhsh, Karina / Mohandas, Narla / Alayash, Abdu I / Manci, Elizabeth A / Belcher, John D / Vercellotti, Gregory M

British journal of haematology

2016 Volume 175, Issue 4, Page(s) 714–723

Abstract: There is growing evidence that extracellular haemoglobin and haem mediate inflammatory and oxidative damage in sickle cell disease. Haptoglobin (Hp), the scavenger for free haemoglobin, is depleted in most patients with sickle cell disease due to chronic ...

Abstract	There is growing evidence that extracellular haemoglobin and haem mediate inflammatory and oxidative damage in sickle cell disease. Haptoglobin (Hp), the scavenger for free haemoglobin, is depleted in most patients with sickle cell disease due to chronic haemolysis. Although single infusions of Hp can ameliorate vaso-occlusion in mouse models of sickle cell disease, prior studies have not examined the therapeutic benefits of more chronic Hp dosing on sickle cell disease manifestations. In the present study, we explored the effect of Hp treatment over a 3-month period in sickle mice at two dosing regimens: the first at a moderate dose of 200 mg/kg thrice weekly and the second at a higher dose of 400 mg/kg thrice weekly. We found that only the higher dosing regimen resulted in increased haem-oxygenase-1 and heavy chain ferritin (H-ferritin) expression and decreased iron deposition in the kidney. Despite the decreased kidney iron deposition following Hp treatment, there was no significant improvement in kidney function. However, there was a nearly significant trend towards decreased liver infarction.
MeSH term(s)	Anemia, Sickle Cell/complications ; Anemia, Sickle Cell/drug therapy ; Anemia, Sickle Cell/genetics ; Anemia, Sickle Cell/metabolism ; Animals ; Apoferritins/genetics ; Apoferritins/metabolism ; Blood Cell Count ; Disease Models, Animal ; Female ; Gene Expression ; Haptoglobins/administration & dosage ; Haptoglobins/adverse effects ; Haptoglobins/pharmacokinetics ; Haptoglobins/pharmacology ; Heme Oxygenase-1/genetics ; Heme Oxygenase-1/metabolism ; Iron/metabolism ; Kidney Diseases/etiology ; Kidney Diseases/metabolism ; Kidney Diseases/pathology ; Kidney Diseases/physiopathology ; Male ; Mice ; Mice, Transgenic ; Treatment Outcome
Chemical Substances	Haptoglobins ; Apoferritins (9013-31-4) ; Iron (E1UOL152H7) ; Heme Oxygenase-1 (EC 1.14.14.18)
Language	English
Publishing date	2016-11
Publishing country	England
Document type	Journal Article
ZDB-ID	80077-6
ISSN	1365-2141 ; 0007-1048
ISSN (online)	1365-2141
ISSN	0007-1048
DOI	10.1111/bjh.14280
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Article: Lumbosacral ectopic nephrogenic rest unassociated with spinal dysraphism.

Horenstein, Marcelo G / Manci, Elizabeth A / Walker, Andrew B / Dehner, Louis P

The American journal of surgical pathology

2004 Volume 28, Issue 10, Page(s) 1389–1392

Abstract: Nephrogenic rests (NRs) are thought to originate from persistent nephrogenic blastema and are considered precursor lesions of Wilms' tumor (WT). These rests usually occur as perilobar and intralobar lesions in the kidney and, rarely, in ectopic sites. We ...

Abstract	Nephrogenic rests (NRs) are thought to originate from persistent nephrogenic blastema and are considered precursor lesions of Wilms' tumor (WT). These rests usually occur as perilobar and intralobar lesions in the kidney and, rarely, in ectopic sites. We report a midline lumbosacral ectopic NR in a healthy full-term newborn male with no family history of WT or WT-associated syndromes. The NR presented as a soft polypoid mass covered by normal skin. An MRI study revealed no lumbosacral spine abnormalities and no communication with the vertebral canal. The resected mass measured 3 cm and contained fat and had a central 1.2-cm solid nodule. The nodule was composed of blastema, epithelial elements (mature tubules and nephrons), and abundant stroma. No other somatic tissue elements were identified after complete microscopic examination. There are 4 cases of NRs reported in the lumbosacral area associated with spinal dysraphism, and only 2 cases, in addition to our report, unassociated with spinal abnormalities. The pathogenesis of heterotopic immature nephrogenic tissue remains a source of conjecture and speculation. If these lesions are heterotopic rests, their potential for neoplastic progression is probably quite limited, but if a monodermal teratoma, then more scrupulous clinical follow-up is warranted.
MeSH term(s)	Choristoma/pathology ; Choristoma/surgery ; Humans ; Infant, Newborn ; Kidney ; Lumbosacral Region ; Male ; Spinal Dysraphism
Language	English
Publishing date	2004-07-29
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	752964-8
ISSN	1532-0979 ; 0147-5185
ISSN (online)	1532-0979
ISSN	0147-5185
DOI	10.1097/01.pas.0000131557.49774.29
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