Publications by authors named "Josefine Heim-Hall"

Calcifying pseudoneoplasm of the neuraxis is an uncommon, nonneoplastic fibro-osseous lesion of the central nervous system. At the time of this report, at least 150 cases have been reported in the literature. Because of the rarity of this lesion, it is often diagnostically challenging for radiologists and pathologists alike.

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Background: Microvillus Inclusion Disease (MVID) was first described in the literature in 1978 with presentation of severe watery diarrhea, failure to thrive, and metabolic acidosis. Mutations in the myosin Vb (MYO5B) gene have been identified as causative for MVID, but other clinical manifestations and associations with novel mutations are lacking.

Methods: We report a full-term infant admitted to the neonatal intensive care unit (NICU) with abdominal distension and inability to sustain full enteral feeds.

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Article Synopsis
  • Osteosarcoma is the most common bone cancer in youth, and this study investigates the expression of microRNAs (miRs) to find potential biomarkers for disease relapse and survival.
  • Researchers identified a 42-miR signature linked to patient survival and recurrence, with 8 miRs present in both survival-related groups.
  • The study utilized high-throughput RT-qPCR to analyze miR expression in 27 Mexican-American patients, revealing that these miRs might help predict outcomes and serve as targets for new therapies in pediatric osteosarcoma.
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Article Synopsis
  • Osteosarcoma is the most common bone cancer in young people, and this study focuses on how Mexican American ethnicity affects outcomes in children and adolescents with the disease.
  • Out of 50 patients studied, 70% were Mexican Americans, with a median follow-up showing a 5-year overall survival rate of 65% and a significantly lower event-free survival for those diagnosed before age 12.
  • The research concludes that preadolescent Mexican American patients have a higher relapse rate and that tumor necrosis does not accurately predict survival outcomes in this group.*
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Objective: To compare placental lesions for stillbirth cases and live birth controls in a population-based study.

Methods: Pathologic examinations were performed on placentas from singleton pregnancies using a standard protocol. Data were analyzed overall and within gestational age groups at delivery.

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Hemangiopericytomas of the head and neck are rarely found in the parapharyngeal space. We report the case of a 53-year-old woman who presented with a globus sensation in her throat. Imaging detected a left submucosal oropharyngeal mass that extended into the prestyloid parapharyngeal space.

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Background: Genetic abnormalities have been associated with 6 to 13% of stillbirths, but the true prevalence may be higher. Unlike karyotype analysis, microarray analysis does not require live cells, and it detects small deletions and duplications called copy-number variants.

Methods: The Stillbirth Collaborative Research Network conducted a population-based study of stillbirth in five geographic catchment areas.

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After reviewing the state of knowledge about the scope and causes of stillbirth (SB) in a special workshop sponsored by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the participants determined that there is little guidance regarding the best use of postmortem examination (PM) to address the pathogenesis of stillbirth. In this report, we describe the PM procedure designed and used in the NICHD-supported Stillbirth Cooperative Research Network (SCRN). Perinatal pathologists, clinicians, epidemiologists, and biostatisticians at four tertiary care centers, a data coordinating center, and NICHD developed a standardized approach to perinatal PM, which was applied to a population-based study of stillbirth as part of the SCRN.

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We describe the neuropathologic procedure utilized in the Stillbirth Collaborative Research Network (SCRN), focusing on the examination of central nervous system (CNS) in stillbirth (SB). The SCRN was organized to perform a case-control study to determine the scope and causes of SB. Pathologists at all the participating centers agreed on and used the same standardized neuropathologic techniques.

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The Stillbirth Collaborative Research Network (SCRN) was organized to study the scope and causes of stillbirth (SB) in the United States. The objective of this report is to describe the approach used for the placental examination performed as part of the study. The SCRN consists of a multidisciplinary team of investigators from five clinical sites, the National Institute of Child Health and Human Development, and the Data Coordination and Analysis Center.

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Unlabelled: The pathogenesis of Charcot neuroarthropathy is unclear. To investigate the possibility that decreased levels of calcitonin gene-related peptide and endothelial nitric oxide synthase are involved in the process, we studied bone samples from healthy subjects (n = 4), subjects with diabetic neuropathy (n = 4), and subjects with Charcot neuroarthropathy (n = 4). A statistically significant difference was found in endothelial nitric oxide synthase expression between bone specimens in patients with diabetic neuropathy, Charcot neuroarthropathy, and normal bone (P = .

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Background: The development of malignant neoplasms has been reported as a rare complication of the use of implanted biomaterials. The majority of these cases have been sarcomas related to orthopedic hardware. The authors present the first reported case of a sarcoma arising in association with a dental implant.

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Context: Soft tissue tumors are composed of numerous and complex diagnostic entities. Because of this complexity and the recognition of an intermediate malignancy category including some tumors with a deceptively bland histologic appearance, soft tissue tumors may represent a major diagnostic challenge to the general practicing pathologist.

Objective: To correctly diagnose soft tissue tumors with the ancillary use of immunohistochemistry.

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Soft tissue sarcomas comprise a heterogeneous group of mesenchymal tumors with varying biological behavior ranging from indolent tumors with no or minimal metastatic risk to aggressive and frequently metastasizing tumors. Among the more common aggressive adult soft tissue sarcomas are malignant fibrous histiocytoma, synovial sarcoma and liposarcoma. Matrix metalloproteinases are enzymes which perform a homeostatic role in mesenchymal tissue and function in both tumorigenesis and metastasis.

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We describe a case of a cutaneous perivascular myoma with features overlapping between the myofibromatosis and the myopericytoma type. The patient is a 58-year-old woman with a painless plaque-like and multinodular lesion in the pretibial dermis and subcutaneous tissue. She had repeated trauma to this site, first in her early youth that left an area of hyperpigmentation, and then again at age 40.

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