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1.
Acta Neuropathol Commun ; 12(1): 143, 2024 Sep 03.
Artículo en Inglés | MEDLINE | ID: mdl-39228008

RESUMEN

Neuroepithelial tumors with fusion of PLAGL1 or amplification of PLAGL1/PLAGL2 have recently been described often with ependymoma-like or embryonal histology respectively. To further evaluate emerging entities with PLAG-family genetic alterations, the histologic, molecular, clinical, and imaging features are described for 8 clinical cases encountered at St. Jude (EWSR1-PLAGL1 fusion n = 6; PLAGL1 amplification n = 1; PLAGL2 amplification n = 1). A histologic feature observed on initial resection in a subset (4/6) of supratentorial neuroepithelial tumors with EWSR1-PLAGL1 rearrangement was the presence of concurrent ependymal and ganglionic differentiation. This ranged from prominent clusters of ganglion cells within ependymoma/subependymoma-like areas, to interspersed ganglion cells of low to moderate frequency among otherwise ependymal-like histology, or focal areas with a ganglion cell component. When present, the combination of ependymal-like and ganglionic features within a supratentorial neuroepithelial tumor may raise consideration for an EWSR1-PLAGL1 fusion, and prompt initiation of appropriate molecular testing such as RNA sequencing and methylation profiling. One of the EWSR1-PLAGL1 fusion cases showed subclonal INI1 loss in a region containing small clusters of rhabdoid/embryonal cells, and developed a prominent ganglion cell component on recurrence. As such, EWSR1-PLAGL1 neuroepithelial tumors are a tumor type in which acquired inactivation of SMARCB1 and development of AT/RT features may occur and lead to clinical progression. In contrast, the PLAGL2 and PLAGL1 amplified cases showed either embryonal histology or contained an embryonal component with a significant degree of desmin staining, which could also serve to raise consideration for a PLAG entity when present. Continued compilation of associated clinical data and histopathologic findings will be critical for understanding emerging entities with PLAG-family genetic alterations.


Asunto(s)
Proteína EWS de Unión a ARN , Neoplasias Supratentoriales , Factores de Transcripción , Humanos , Neoplasias Supratentoriales/genética , Neoplasias Supratentoriales/patología , Femenino , Proteína EWS de Unión a ARN/genética , Masculino , Factores de Transcripción/genética , Niño , Neoplasias Neuroepiteliales/genética , Neoplasias Neuroepiteliales/patología , Preescolar , Adolescente , Adulto , Proteínas de Unión al ADN/genética , Adulto Joven , Diferenciación Celular , Proteínas de Fusión Oncogénica/genética , Epéndimo/patología , Reordenamiento Génico/genética , Proteínas Cromosómicas no Histona/genética
2.
J Pediatr Adolesc Gynecol ; 37(5): 523-526, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-38768704

RESUMEN

INTRODUCTION: Endometriosis typically presents in postmenarchal patients with cyclic and acyclic pelvic pain. However, there are reports of endometriosis in premenarchal patients. CASE: We report a 10-year-old individual with 46,XY difference of sex development who was found to have endometriosis at the time of laparoscopic gonadectomy for gonadoblastoma. CONCLUSIONS: Although rare, endometriosis can occur in 46,XY individuals prior to puberty, highlighting the complex origin of the disease.


Asunto(s)
Endometriosis , Humanos , Femenino , Endometriosis/complicaciones , Endometriosis/cirugía , Niño , Gonadoblastoma/genética , Gonadoblastoma/cirugía , Laparoscopía , Neoplasias Ováricas/genética , Neoplasias Ováricas/cirugía , Trastorno del Desarrollo Sexual 46,XY/genética , Trastorno del Desarrollo Sexual 46,XY/diagnóstico
3.
JBJS Case Connect ; 14(1)2024 01 01.
Artículo en Inglés | MEDLINE | ID: mdl-38306445

RESUMEN

CASE: We report a case in the United States of a 12-year-old girl with multidrug-resistant tuberculous (MDR-TB) osteomyelitis of the hand managed with surgical debridement and second-line anti-TB therapy. The disease course was complicated by dissemination and multifocal progression. CONCLUSION: Despite early intervention, multidrug resistance makes TB treatment challenging and facilitated progression to disseminated disease in this case. We review the difficulties in diagnosis and treatment of pediatric MDR-TB.


Asunto(s)
Osteomielitis , Tuberculosis Resistente a Múltiples Medicamentos , Tuberculosis Osteoarticular , Femenino , Humanos , Niño , Estados Unidos , Antituberculosos/uso terapéutico , Tuberculosis Resistente a Múltiples Medicamentos/tratamiento farmacológico , Tuberculosis Resistente a Múltiples Medicamentos/diagnóstico , Tuberculosis Osteoarticular/diagnóstico por imagen , Tuberculosis Osteoarticular/tratamiento farmacológico , Extremidad Superior , Osteomielitis/diagnóstico por imagen , Osteomielitis/tratamiento farmacológico
4.
Pediatr Dev Pathol ; 27(1): 83-89, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-37801629

RESUMEN

Tbx4 protein, expressed in mesenchyme of the developing lung, contributes to airway branching and distal lung growth. An association between pediatric onset of pulmonary arterial hypertension (PAH) and genetic variations coding for the T-box transcription factor 4 gene (TBX4) has been increasingly recognized. Tbx4-related PAH onset has a bimodal age distribution, including severe to lethal PAH in newborns and later onset PAH. We present an autopsy study of a 24-year-old male with a heterozygous TBX4 variant, who developed pulmonary arterial hypertension at age 12 years. This unique case highlights the complex pulmonary histopathology leading to lethal cardiopulmonary failure in the setting of TBX4 mutation.


Asunto(s)
Mutación de Línea Germinal , Hipertensión Arterial Pulmonar , Masculino , Niño , Humanos , Recién Nacido , Adulto Joven , Adulto , Hipertensión Arterial Pulmonar/metabolismo , Proteínas de Dominio T Box/genética , Proteínas de Dominio T Box/metabolismo , Pulmón , Mutación , Fenotipo , Hipertensión Pulmonar Primaria Familiar/genética , Hipertensión Pulmonar Primaria Familiar/metabolismo , Factores de Transcripción/genética
7.
Pediatr Surg Int ; 37(4): 491-494, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33433664

RESUMEN

Vaginoplasty with colon is a common technique for vaginal replacement in patients with cloaca. Malignancy in the neovagina is a rare outcome and typically presents decades after reconstruction. We present a case of an adolescent female with history of cloaca, ulcerative colitis, and high-grade dysplasia of the sigmoid neovagina.


Asunto(s)
Colitis Ulcerosa , Vagina/cirugía , Adolescente , Adulto , Cloaca , Colon Sigmoide , Constricción Patológica/complicaciones , Femenino , Procedimientos Quirúrgicos Ginecológicos/métodos , Humanos , Persona de Mediana Edad
8.
Dermatol Online J ; 27(11)2021 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-35130404

RESUMEN

Infantile myofibromatosis is a rare myofibroblastic proliferative disorder characterized by firm, skin-colored to red-purple cutaneous and subcutaneous nodules; these are the most prevalent fibrous tumors observed in infancy. A premature male infant presented at birth with multiple subcutaneous firm skin-colored nodules measuring about 1-2cm each. Full body MRI and excisional biopsy of the right chest nodule confirmed the diagnosis. We review the case of infantile myofibromatosis and discuss its highly heterogeneous presentation and clinical course, as well as histopathology, genetic testing, and approaches to management.


Asunto(s)
Miofibromatosis/congénito , Neoplasias de Cabeza y Cuello/congénito , Neoplasias de Cabeza y Cuello/patología , Humanos , Recién Nacido , Recien Nacido Prematuro , Masculino , Miofibromatosis/genética , Miofibromatosis/patología , Fotograbar , Cuero Cabelludo
9.
J Environ Public Health ; 2015: 476495, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26060500

RESUMEN

Exposure to ionizing radiation has potential for acute and chronic health effects. Within the general public of the United States, there may be a discrepancy between perceived and actual health risks. In conjunction with the Vermont Department of Health, a survey designed to assess public perception and knowledge of ionizing radiation was administered at 6 Vermont locations (n = 169). Descriptive and inferential statistical analyses were conducted. Eighty percent of respondents underestimated the contribution of medical imaging tests to total ionizing radiation exposure. Although only thirty-nine percent of participants were confident in their healthcare professional's knowledge of ionizing radiation, most would prefer to receive information from their healthcare professional. Only one-third of individuals who received a medical imaging test in the past year were educated by their healthcare professional about the risks of these tests. Those who tested their home for radon were twice as likely to choose radon as the greatest ionizing radiation risk to self. Although respondents had an above-average education level, there were many misperceptions of actual risks of exposure to ionizing radiation, particularly of medical imaging tests. Educating healthcare professionals would therefore have a profound and positive impact on public understanding of ionizing radiation.


Asunto(s)
Competencia Clínica , Conocimientos, Actitudes y Práctica en Salud , Percepción , Radiación Ionizante , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Personal de Salud/psicología , Humanos , Masculino , Persona de Mediana Edad , Vermont , Adulto Joven
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