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Article ; Online: A high-pressure situation.

Miller, Matthew J / Hicks, M John / Foroozan, Rod / Brodsky, Michael C

2022 Volume 68, Issue 4, Page(s) 815–820

Abstract: An 8-year-old boy presented with acute visual loss in the right eye and nausea, vomiting, and diplopia. Imaging revealed a right orbital apex mass. Biopsy showed Langerhans cell histiocytosis (LCH), and the patient was diagnosed with isolated orbital LCH ...

Abstract	An 8-year-old boy presented with acute visual loss in the right eye and nausea, vomiting, and diplopia. Imaging revealed a right orbital apex mass. Biopsy showed Langerhans cell histiocytosis (LCH), and the patient was diagnosed with isolated orbital LCH causing an orbital apex syndrome. A 12-month cytarabine chemotherapy course was begun, during which the patient developed bilateral optic disc edema. He was diagnosed with cytarabine-induced intracranial hypertension, which was successfully treated with acetazolamide. The cytarabine course was completed with complete resolution of the LCH lesion. The ophthalmologic relevance of this rare disorder is discussed.
MeSH term(s)	Male ; Humans ; Child ; Histiocytosis, Langerhans-Cell/diagnosis ; Histiocytosis, Langerhans-Cell/drug therapy ; Histiocytosis, Langerhans-Cell/pathology ; Orbital Diseases/diagnosis ; Orbital Diseases/drug therapy ; Orbital Diseases/pathology ; Cytarabine/adverse effects ; Diplopia ; Papilledema/chemically induced ; Papilledema/diagnosis ; Papilledema/drug therapy
Chemical Substances	Cytarabine (04079A1RDZ)
Language	English
Publishing date	2022-08-12
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	391346-6
ISSN	1879-3304 ; 0039-6257
ISSN (online)	1879-3304
ISSN	0039-6257
DOI	10.1016/j.survophthal.2022.08.001
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Article ; Online: LOX upregulates FAK phosphorylation to promote metastasis in osteosarcoma.

Chen, Xiang / Clement, Margaret / Hicks, M John / Sarkar, Poonam / Gaber, M Waleed / Man, Tsz-Kwong

Genes & diseases

2022 Volume 10, Issue 1, Page(s) 254–266

Abstract: Osteosarcoma is a malignant bone tumor that commonly occurs in the pediatric population. Despite the use of chemotherapy and surgery, metastasis remains to be the leading cause of death in patients with osteosarcoma. We have previously reported that ... ...

Abstract	Osteosarcoma is a malignant bone tumor that commonly occurs in the pediatric population. Despite the use of chemotherapy and surgery, metastasis remains to be the leading cause of death in patients with osteosarcoma. We have previously reported that cytoplasmic mislocalization of p27 is associated with a poor outcome in osteosarcoma. In this study, we further show that lysyl oxidase (LOX) expression was associated with p27 mislocalization. LOX is an enigmatic molecule that acts as a tumor suppressor or a metastatic promoter; however, its role in osteosarcoma is still unclear. Hence, we performed both
Language	English
Publishing date	2022-01-29
Publishing country	China
Document type	Journal Article
ZDB-ID	2821806-1
ISSN	2352-3042 ; 2352-3042
ISSN (online)	2352-3042
ISSN	2352-3042
DOI	10.1016/j.gendis.2021.12.016
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Article ; Online: Rolling stones: an instructive case of neonatal cholestasis.

Killelea, Paige / Sakhuja, Shruti / Hernandez, Jose / Hicks, M John / Harpavat, Sanjiv

BMC pediatrics

2022 Volume 22, Issue 1, Page(s) 526

Abstract: Background: Jaundice within the first 1-2 weeks of a neonate's life will generally self-resolve; however, if it lasts longer than this time frame it warrants further work up. Direct or conjugated hyperbilirubinemia can suggest neonatal cholestasis, ... ...

Abstract	Background: Jaundice within the first 1-2 weeks of a neonate's life will generally self-resolve; however, if it lasts longer than this time frame it warrants further work up. Direct or conjugated hyperbilirubinemia can suggest neonatal cholestasis, which in turn reflects marked reduction in bile secretion and flow. The differential diagnosis for neonatal cholestasis is broad. Neonatal choledocholithiasis is a rare cause of neonatal cholestasis, but should be considered on the differential diagnosis for patients presenting with elevated conjugated bilirubin. Case presentation: We describe an infant who presented with neonatal cholestasis. He subsequently underwent work up for biliary atresia, as this is one of the more time-sensitive diagnoses that must be made in neonates with conjugated hyperbilirubinemia. He was ultimately found to have choledocholithiasis on magnetic resonance cholangiopancreatography. He was managed conservatively with optimizing nutrition and ursodeoxycholic acid therapy. Conclusions: We found that conservative management, specifically optimizing nutrition and treating with ursodeoxycholic acid, can be a sufficient approach to facilitating resolution of the choledocholithiasis and conjugated hyperbilirubinemia.
MeSH term(s)	Biliary Atresia/complications ; Biliary Atresia/diagnosis ; Choledocholithiasis/diagnosis ; Choledocholithiasis/diagnostic imaging ; Cholestasis/diagnosis ; Cholestasis/etiology ; Humans ; Hyperbilirubinemia/diagnosis ; Hyperbilirubinemia/etiology ; Infant ; Infant, Newborn ; Infant, Newborn, Diseases ; Jaundice, Neonatal/complications ; Jaundice, Neonatal/etiology ; Liver Diseases ; Male ; Ursodeoxycholic Acid/therapeutic use
Chemical Substances	Ursodeoxycholic Acid (724L30Y2QR)
Language	English
Publishing date	2022-09-04
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	2041342-7
ISSN	1471-2431 ; 1471-2431
ISSN (online)	1471-2431
ISSN	1471-2431
DOI	10.1186/s12887-022-03560-3
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Article ; Online: Urinary CD163 is a marker of active kidney disease in childhood-onset lupus nephritis.

Inthavong, Haleigh / Vanarsa, Kamala / Castillo, Jessica / Hicks, M John / Mohan, Chandra / Wenderfer, Scott E

Rheumatology (Oxford, England)

2022 Volume 62, Issue 3, Page(s) 1335–1342

Abstract: Objective: The objective of this study was to evaluate the utility of urine CD163 for detecting disease activity in childhood-onset SLE (cSLE) patients.: Methods: Sixty consecutive pediatric patients fulfilling four or more ACR criteria for SLE and ... ...

Abstract	Objective: The objective of this study was to evaluate the utility of urine CD163 for detecting disease activity in childhood-onset SLE (cSLE) patients. Methods: Sixty consecutive pediatric patients fulfilling four or more ACR criteria for SLE and 20 healthy controls were recruited for testing of urinary CD163 using ELISA. SLE disease activity was assessed using the SLEDAI-2K. Results: Urine CD163 was significantly higher in patients with active LN than inactive SLE patients and healthy controls, with receiver operating characteristics area under the curve values ranging from 0.93 to 0.96. LN was ascertained by kidney biopsy. Levels of CD163 significantly correlated with the SLEDAI, renal SLEDAI, urinary protein excretion and C3 complement levels. Urine CD163 was also associated with high renal pathology activity index and chronicity index, correlating strongly with interstitial inflammation and interstitial fibrosis based on the examination of concurrent kidney biopsies. Conclusion: Urine CD163 emerges as a promising marker for identifying cSLE patients with active kidney disease. Longitudinal studies are warranted to validate the clinical utility of urine CD163 in tracking kidney disease activity in children with lupus.
MeSH term(s)	Child ; Humans ; Antigens, CD ; Biomarkers/urine ; Kidney/pathology ; Lupus Erythematosus, Systemic/pathology ; Lupus Nephritis/pathology
Chemical Substances	Antigens, CD ; Biomarkers ; CD163 antigen
Language	English
Publishing date	2022-08-12
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	1464822-2
ISSN	1462-0332 ; 1462-0324
ISSN (online)	1462-0332
ISSN	1462-0324
DOI	10.1093/rheumatology/keac465
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Zs.B 240: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Polygenic genetic variation affecting antibody formation underlies hypertensive renal injury in the stroke-prone spontaneously hypertensive rat.

Dhande, Isha S / Zhu, Yaming / Joshi, Aniket S / Hicks, M John / Braun, Michael C / Doris, Peter A

American journal of physiology. Renal physiology

2023 Volume 325, Issue 3, Page(s) F317–F327

Abstract: During development of the spontaneously hypertensive rat (SHR), several distinct but closely related lines were generated. Most lines are resistant to hypertensive renal disease. However, the SHR-A3 line (stroke-prone SHR) experiences end-organ injury ( ... ...

Abstract	During development of the spontaneously hypertensive rat (SHR), several distinct but closely related lines were generated. Most lines are resistant to hypertensive renal disease. However, the SHR-A3 line (stroke-prone SHR) experiences end-organ injury (EOI) and provides a model of injury susceptibility that can be used to uncover genetic causation. In the present study, we generated a congenic line in which three distinct disease loci in SHR-A3 are concurrently replaced with homologous loci from an injury-resistant SHR line (SHR-B2). Verification that all three loci were homozygously replaced in this triple congenic line [SHR-A3(Trip B2)] while the genetic background of SHR-A3 was fully retained was obtained by whole genome sequencing. Congenic genome substitution was without effect on systolic blood pressure [198.9 ± 3.34 mmHg, mean ± SE, SHR-A3(Trip B2) = 194.7 ± 2.55 mmHg]. Measures of renal injury (albuminuria, histological injury scores, and urinary biomarker levels) were reduced in SHR-A3(Trip B2) animals, even though only 4.5 Mbases of the 2.8 Gbases of the SHR-B2 genome (0.16% of the genome) was transferred into the congenic line. The gene content of the three congenic loci and the functional effects of gene polymorphism within suggest a role of immunoglobulin in EOI pathogenesis. To prove the role of antibodies in EOI in SHR-A3, we generated an SHR-A3 line in which expression from the immunoglobulin heavy chain gene was knocked out (SHR-A3-IGHKO). Animals in the SHR-A3-IGHKO line lack B cells and immunoglobulin, but the hypertensive phenotype is not affected. Renal injury, however, was reduced in this line, confirming a pathogenic role for immunoglobulin in hypertensive EOI in this model of heritable risk.
MeSH term(s)	Rats ; Animals ; Rats, Inbred SHR ; Antibody Formation ; Kidney/metabolism ; Hypertension ; Blood Pressure/genetics ; Genetic Variation ; Stroke/genetics ; Stroke/metabolism ; Stroke/pathology
Language	English
Publishing date	2023-07-13
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	603837-2
ISSN	1522-1466 ; 0363-6127
ISSN (online)	1522-1466
ISSN	0363-6127
DOI	10.1152/ajprenal.00058.2023
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Article ; Online: Perivascular Epithelioid Cell-Family Tumors in Children, Adolescents and Young Adults:Clinicopathologic Features in 70 Cases.

Hammer, Phoebe M / Toland, Angus / Shaheen, Muhammad / Shenoy, Archana / Esnakula, Ashwini / Hicks, M John / Warran, Mikako / Al-Ibraheemi, Alyaa / Davis, Jessica L / Tan, Serena Y

Archives of pathology & laboratory medicine

2024

Abstract: Context.—: Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors of uncertain histogenesis expressing smooth muscle and melanocytic markers. The clinicopathologic spectrum in young patients is not well documented.: Objective.—: ... ...

Abstract	Context.—: Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors of uncertain histogenesis expressing smooth muscle and melanocytic markers. The clinicopathologic spectrum in young patients is not well documented. Objective.—: To describe a multi-institutional series of PEComas in children, adolescents, and young adults. Design.—: PEComas, not otherwise specified (NOS); angiomyolipomas (AMLs); lymphangioleiomyomatosis; and clear cell sugar tumors were retrospectively identified from 6 institutions and authors' files. Results.—: Seventy PEComas in 64 patients (median age, 15 years) were identified. They were more common in females (45 of 64 patients), occurring predominately in kidney (53 of 70), followed by liver (6 of 70). Thirty-four patients had confirmed tuberous sclerosis complex (TSC), 3 suspected TSC mosaicism, 2 Li-Fraumeni syndrome (LFS) and 1 neurofibromatosis type 1. Most common variants were classic (49 of 70) and epithelioid (8 of 70) AML. Among patients with AMLs, most (34 of 47) had TSC, and more TSC patients had multiple AMLs (15 of 36) than non-TSC patients (2 of 13). Two TSC patients developed malignant transformation of classic AMLs: 1 angiosarcomatous and 1 malignant epithelioid. Lymphangioleiomyomatosis (5 of 70) occurred in females only, usually in the TSC context (4 of 5). PEComas-NOS (6 of 70) occurred exclusively in non-TSC patients, 2 of whom had LFS (2 of 6). Three were malignant, 1 had uncertain malignant potential, and 2 were benign. All 4 PEComas-NOS in non-LFS patients had TFE3 rearrangements. Conclusions.—: Compared to the general population, TSC was more prevalent in our cohort; PEComas-NOS showed more frequent TFE3 rearrangements and possible association with LFS. This series expands the spectrum of PEComas in young patients and demonstrates molecular features and germline contexts that set them apart from older patients.
Language	English
Publishing date	2024-03-29
Publishing country	United States
Document type	Journal Article
ZDB-ID	194119-7
ISSN	1543-2165 ; 0363-0153 ; 0096-8528 ; 0003-9985
ISSN (online)	1543-2165
ISSN	0363-0153 ; 0096-8528 ; 0003-9985
DOI	10.5858/arpa.2023-0552-OA
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Article ; Online: Lingual Hamartomas: Clinical Characteristics, Diagnostic Evaluation, Treatment, and Outcomes.

Liu, Yi-Chun Carol / Shih, Michael / Hicks, M John / Sitton, Matthew S

The Laryngoscope

2020 Volume 131, Issue 6, Page(s) E2080–E2088

Abstract: Objectives/hypothesis: To further clinically characterize lingual hamartomas, and to consolidate literature by analyzing clinical presentation, diagnostic evaluation, treatment, and outcomes.: Study design: Retrospective chart review and literature ... ...

Abstract	Objectives/hypothesis: To further clinically characterize lingual hamartomas, and to consolidate literature by analyzing clinical presentation, diagnostic evaluation, treatment, and outcomes. Study design: Retrospective chart review and literature review. Methods: Case series from 1989 to 2020 at a tertiary pediatric center; follow-up ranging from 2 months to 12 years. Patient demographics, clinical presentations, physical examination findings, surgical pathology, operative methods, pre-operative imaging, and follow-up. A review of English-language literature from 1945 to 2020 was conducted. Results: Seven patients (four male, three female) with nine lingual hamartomas were identified. Average age at surgical excision was 7.9 months (SD 3.5 months, range 3 to 14 months). Follow-up ranged from 2 months to 12 years, with all patients having no recurrence. Physical examination identified five pedunculated hamartomas and two sessile hamartomas. One patient had a neck CT, one had neck ultrasound, and two had facial MRIs. CT and ultrasounds confirmed presence of cervical thyroid. MRI suggested no muscular invasion for one patient, whereas motion artifact obscured findings for the other patient. Most patients who presented with dysphagia or poor weight gain achieved post-surgical improvement. The present cases combined with the literature review identified 57 patients with 63 lingual hamartomas. Conclusions: Lingual hamartomas appear as hypovascular pedunculated masses near the foramen cecum. There is no demographic predisposition, and most are identified during infancy. Imaging is not necessary, unless there is concern for lingual thyroid, in which case thyroid ultrasound should be performed. Surgical excision is curative, with dysphagia resolution and low likelihood for recurrence. Level of evidence: 4 Laryngoscope, 131:E2080-E2088, 2021.
MeSH term(s)	Diagnostic Imaging ; Female ; Hamartoma/diagnosis ; Hamartoma/therapy ; Humans ; Infant ; Male ; Tongue Neoplasms/diagnosis ; Tongue Neoplasms/therapy
Language	English
Publishing date	2020-12-01
Publishing country	United States
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	80180-x
ISSN	1531-4995 ; 0023-852X
ISSN (online)	1531-4995
ISSN	0023-852X
DOI	10.1002/lary.29284
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Article ; Online: Pediatric liposarcoma: A case series and literature review.

Baday, Yiressy Izaguirre / Navai, Shoba A / Hicks, M John / Venkatramani, Rajkumar / Whittle, Sarah B

Pediatric blood & cancer

2021 Volume 68, Issue 12, Page(s) e29327

Abstract: Liposarcoma is arare soft tissue sarcoma in children. While prognosis, clinical behavior, and response to therapy among the various histologic subtypes are well described in adults, data in children are limited. Here, we describe our experience treating ... ...

Abstract	Liposarcoma is arare soft tissue sarcoma in children. While prognosis, clinical behavior, and response to therapy among the various histologic subtypes are well described in adults, data in children are limited. Here, we describe our experience treating 14 children with liposarcoma at a large, academic pediatric center and review the available pediatric literature. This comprehensive report adds treatment, survival, and genomic data to pediatric liposarcoma literature.
MeSH term(s)	Adult ; Child ; Humans ; Liposarcoma/genetics ; Liposarcoma/therapy ; Prognosis ; Sarcoma
Language	English
Publishing date	2021-09-14
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Review
ZDB-ID	2131448-2
ISSN	1545-5017 ; 1545-5009
ISSN (online)	1545-5017
ISSN	1545-5009
DOI	10.1002/pbc.29327
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Article ; Online: Conventional and advanced MR imaging findings in a cohort of pathology-proven dermoid cysts of the pediatric scalp and skull.

Serrallach, Bettina L / Orman, Gunes / Hicks, M John / Desai, Nilesh / Kralik, Stephen / Huisman, Thierry Agm

The neuroradiology journal

2021 Volume 35, Issue 4, Page(s) 497–503

Abstract: Background: In the pediatric population, dermoid cysts are among the most frequent lesions of the scalp and skull. Imaging plays a key role in characterizing scalp and skull lesions in order to narrow the differential diagnoses. In general, dermoids are ...

Abstract	Background: In the pediatric population, dermoid cysts are among the most frequent lesions of the scalp and skull. Imaging plays a key role in characterizing scalp and skull lesions in order to narrow the differential diagnoses. In general, dermoids are described as heterogeneous T1-/T2-hypo- to hyperintense lesions on magnetic resonance imaging. Methods: The goal of this retrospective study is to evaluate the diffusion weighted imaging findings while reviewing the conventional T1-/T2-/T1+C-weighted MR characteristics in a pathology-proven series of 14 dermoids of the pediatric scalp and skull. Results: In our pediatric cohort (eight boys, six girls, age range 3-95 months), half of the dermoids were homogeneous T1-hypointense and homogeneous T2-hyperintense. We found a mixture of restricted (45.5%) and increased diffusion (54.5%) in dermoids. The vast majority of dermoids (91.7%) showed rim enhancement. Most dermoids (57.1%) were located at the midline and adjacent to one of its sutures. Conclusions: This study suggests that dermoids may have more variable imaging appearances than hitherto assumed and are frequently seen in close proximity or adjacent to the anterior fontanelle.
MeSH term(s)	Child ; Child, Preschool ; Dermoid Cyst ; Female ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Retrospective Studies ; Scalp ; Skull
Language	English
Publishing date	2021-12-07
Publishing country	United States
Document type	Journal Article
ZDB-ID	2257770-1
ISSN	2385-1996 ; 1971-4009 ; 1120-9976
ISSN (online)	2385-1996
ISSN	1971-4009 ; 1120-9976
DOI	10.1177/19714009211059120
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Article ; Online: Cross-sectional study of plasma Axl, ferritin, IGFBP4 and sTNFR2 as biomarkers of disease activity in childhood-onset SLE: A study of the Pediatric Nephrology Research Consortium.

Soliman, Samar A / Haque, Anam / Mason, Sherene / Greenbaum, Larry A / Hicks, M John / Mohan, Chandra / Wenderfer, Scott E

Lupus

2021 Volume 30, Issue 9, Page(s) 1394–1404

Abstract: Objective: To evaluate the performance of 4 plasma protein markers for detecting disease activity in childhood-onset systemic lupus erythematosus (SLE) patients.: Methods: Eighty-three consecutive pediatric patients fulfilling ≥4 ACR criteria for SLE ...

Abstract	Objective: To evaluate the performance of 4 plasma protein markers for detecting disease activity in childhood-onset systemic lupus erythematosus (SLE) patients. Methods: Eighty-three consecutive pediatric patients fulfilling ≥4 ACR criteria for SLE and twenty-five healthy controls were prospectively recruited for serological testing of 4 protein markers identified by antibody-coated microarray screen, namely Axl, ferritin, IGFBP4 and sTNFR2. SLE disease activity was assessed using SLEDAI-2000 score. Fifty-seven patients had clinically active SLE (SLEDAI score ≥4, or having a flare). Results: The plasma concentrations of Axl and ferritin were significantly higher in patients with active SLE than inactive SLE. Plasma Axl levels were significantly higher in active renal versus active non-renal SLE patients. Levels of Axl, ferritin and IGFBP4 correlated significantly with SLEDAI scores. Levels of Axl, IFGBP4 and sTNFR2 inversely correlated with plasma complement C3 levels. Only plasma Axl and ferritin levels correlated with degree of proteinuria. These markers were more specific, but less sensitive, in detecting concurrent SLE activity than elevated anti-dsDNA antibody titer or decreased C3. Ferritin and IGFBP4 levels were more specific for concurrent active lupus nephritis than anti-dsDNA or C3. Plasma ferritin was the best monitor of global SLE activity, followed by C3 then Axl, while both Axl and C3 were best monitors of clinical lupus nephritis activity. Conclusion: In childhood-onset SLE patients, plasma ferritin and Axl perform better than traditional yardsticks in identifying disease activity, either global or renal. The performance of these plasma markers should be explored further in longitudinal cohorts of SLE patients.
MeSH term(s)	Adolescent ; Antibodies, Antinuclear/blood ; Biomarkers/blood ; Child ; Complement C3/analysis ; Cross-Sectional Studies ; Female ; Ferritins/blood ; Humans ; Insulin-Like Growth Factor Binding Protein 4/blood ; Lupus Erythematosus, Systemic/blood ; Lupus Erythematosus, Systemic/diagnosis ; Lupus Nephritis/blood ; Lupus Nephritis/diagnosis ; Male ; Proto-Oncogene Proteins/blood ; Receptor Protein-Tyrosine Kinases/blood ; Receptors, Tumor Necrosis Factor, Type II/blood ; Severity of Illness Index ; Axl Receptor Tyrosine Kinase
Chemical Substances	Antibodies, Antinuclear ; Biomarkers ; Complement C3 ; IGFBP4 protein, human ; Insulin-Like Growth Factor Binding Protein 4 ; Proto-Oncogene Proteins ; Receptors, Tumor Necrosis Factor, Type II ; anti-dsDNA autoantibody ; Ferritins (9007-73-2) ; Receptor Protein-Tyrosine Kinases (EC 2.7.10.1) ; Axl Receptor Tyrosine Kinase ; AXL protein, human
Language	English
Publishing date	2021-05-14
Publishing country	England
Document type	Journal Article
ZDB-ID	1154407-7
ISSN	1477-0962 ; 0961-2033
ISSN (online)	1477-0962
ISSN	0961-2033
DOI	10.1177/09612033211016100
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