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Article: Corrigendum to "Erdheim-Chester disease with tendon and muscle involvement: Reports of a rare presentation" [Radiology Case Reports 19 (2024) 1866-1871].

Golagha, Mahshid / Firouzabadi, Fatemeh Dehghani / Millo, Corina / Nikpanah, Moozhan / Ahlman, Mark A / Dave, Rahul H / Estrada-Veras, Juvianee I / O'Brien, Kevin / Malayeri, Ashkan A

Radiology case reports

2024 Volume 19, Issue 6, Page(s) 2576–2577

Abstract: This corrects the article DOI: 10.1016/j.radcr.2024.02.009.]. ...

Abstract	[This corrects the article DOI: 10.1016/j.radcr.2024.02.009.].
Language	English
Publishing date	2024-03-28
Publishing country	Netherlands
Document type	Published Erratum
ZDB-ID	2406300-9
ISSN	1930-0433
ISSN	1930-0433
DOI	10.1016/j.radcr.2024.02.112
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Article: Erdheim-Chester disease with tendon and muscle involvement: Reports of a rare presentation.

Golagha, Mahshid / Dehghani Firouzabadi, Fatemeh / Millo, Corina / Nikpanah, Moozhan / Ahlman, Mark A / Dave, Rahul H / Estrada-Veras, Juvianee I / O'Brien, Kevin / Malayeri, Ashkan A

Radiology case reports

2024 Volume 19, Issue 5, Page(s) 1866–1871

Abstract: Erdheim-Chester disease (ECD) is a rare histiocytic disease that affects multiple systems in the body. While it typically targets long bones, cardiovascular structures, the retroperitoneum, and the central nervous system, reports of tendon and skeletal ... ...

Abstract	Erdheim-Chester disease (ECD) is a rare histiocytic disease that affects multiple systems in the body. While it typically targets long bones, cardiovascular structures, the retroperitoneum, and the central nervous system, reports of tendon and skeletal muscle involvement are scarce. This review presents 2 cases: a case of ECD involving the left Achilles tendon and left abductor hallucis, as well as an unusual manifestation of ECD in the thigh musculature. In Case 1, studies involved a 39-year-old man who initially presented with bone and pituitary involvement. An order for
Language	English
Publishing date	2024-02-23
Publishing country	Netherlands
Document type	Case Reports
ZDB-ID	2406300-9
ISSN	1930-0433
ISSN	1930-0433
DOI	10.1016/j.radcr.2024.02.009
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Article ; Online: Skeletal involvement in Erdheim-Chester disease: Multimodality imaging features and association with the BRAF

Nikpanah, Moozhan / Dehghani Firouzabadi, Fatemeh / Farhadi, Faraz / Mirmomen, S Mojdeh / Ahlman, Mark A / Huda, Fahimul / Millo, Corina / Saboury, Babak / Paschall, Anna K / Gahl, William A / Estrada-Veras, Juvianee I / Turkbey, Evrim / Jones, Elizabeth C / O'Brien, Kevin / Malayeri, Ashkan A

Clinical imaging

2023 Volume 106, Page(s) 110067

Abstract: Objective: The aim of this study was to characterize the distribution of skeletal involvement in Erdheim-Chester disease (ECD) by using radiography, computed tomography (CT), : Material and methods: Prospective study of 50 consecutive patients with ... ...

Abstract	Objective: The aim of this study was to characterize the distribution of skeletal involvement in Erdheim-Chester disease (ECD) by using radiography, computed tomography (CT), Material and methods: Prospective study of 50 consecutive patients with biopsy-confirmed ECD who had radiographs, CT, Results: All 50 cases revealed skeletal involvement at different regions of the skeleton. The BRAF Conclusion: This study reports the distribution of skeletal involvement in a cohort of patients with ECD. CT is able to detect the majority of ECD skeletal involvement. Considering the complementary nature of information from different modalities, imaging of ECD skeletal involvement is optimized by using a multi-modality strategy.
MeSH term(s)	Humans ; Erdheim-Chester Disease/diagnostic imaging ; Erdheim-Chester Disease/genetics ; Fluorodeoxyglucose F18 ; Multimodal Imaging ; Mutation ; Positron Emission Tomography Computed Tomography ; Prospective Studies ; Proto-Oncogene Proteins B-raf/genetics
Chemical Substances	BRAF protein, human (EC 2.7.11.1) ; Fluorodeoxyglucose F18 (0Z5B2CJX4D) ; Proto-Oncogene Proteins B-raf (EC 2.7.11.1)
Language	English
Publishing date	2023-12-14
Publishing country	United States
Document type	Journal Article
ZDB-ID	1028123-x
ISSN	1873-4499 ; 0899-7071
ISSN (online)	1873-4499
ISSN	0899-7071
DOI	10.1016/j.clinimag.2023.110067
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Article ; Online: Survivorship Issues in Adult Patients With Histiocytic Neoplasms.

O'Brien, Kevin / Dave, Rahul / Shekhar, Skand / Hannah-Shmouni, Fady / Comis, Leora E / Solomon, Beth I / Chen, Marcus / Gahl, William A / FitzGibbon, Edmond / Gochuico, Bernadette R / Estrada-Veras, Juvianee I

Journal of the National Comprehensive Cancer Network : JNCCN

2021 Volume 19, Issue 11, Page(s) 1312–1318

Abstract: Adult-onset histiocytoses (AOH), primarily Rosai-Dorfman disease (RDD), Erdheim-Chester Disease (ECD), and adult Langerhans cell histiocytosis (ALCH), are a group of related histiocytic neoplastic disorders featuring multisystemic manifestations. The ... ...

Abstract	Adult-onset histiocytoses (AOH), primarily Rosai-Dorfman disease (RDD), Erdheim-Chester Disease (ECD), and adult Langerhans cell histiocytosis (ALCH), are a group of related histiocytic neoplastic disorders featuring multisystemic manifestations. The disorders are largely incurable, and are essentially chronic neoplastic diseases with a variable prognosis. Prompt diagnosis and treatment is important to prevent debilitating and even life-threatening complications. Survivorship issues abound in AOH, due to their multisystemic manifestations and the sometimes recalcitrant chronic inflammation, which can lead to other debilitating complications such as fatigue, weakness, and pain. Because these disorders are rare, few healthcare professionals are proficient in their management; therefore the aim of these guidelines is to offer guidance on how to manage patients, and how to create survivorship care plans through the efforts of an interdisciplinary team.
MeSH term(s)	Adult ; Erdheim-Chester Disease ; Histiocytosis, Langerhans-Cell/diagnosis ; Histiocytosis, Langerhans-Cell/therapy ; Histiocytosis, Sinus/diagnosis ; Histiocytosis, Sinus/therapy ; Humans ; Neoplasms ; Prognosis ; Survivorship
Language	English
Publishing date	2021-10-15
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2250759-0
ISSN	1540-1413 ; 1540-1405
ISSN (online)	1540-1413
ISSN	1540-1405
DOI	10.6004/jnccn.2021.7096
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Article: Expanding the Phenotype of

Schmidt, Lindsey / Wain, Karen E / Hajek, Catherine / Estrada-Veras, Juvianee I / Guillen Sacoto, Maria J / Wentzensen, Ingrid M / Malhotra, Alka / Clause, Amanda / Perry, Denise / Moreno-De-Luca, Andres / Bell, Megan

Molecular syndromology

2020 Volume 12, Issue 1, Page(s) 33–40

Abstract: Tubulinopathies are a group of conditions caused by variants in 6 tubulin genes that present with a spectrum of brain malformations. One of these conditions ... ...

Abstract	Tubulinopathies are a group of conditions caused by variants in 6 tubulin genes that present with a spectrum of brain malformations. One of these conditions is
Language	English
Publishing date	2020-12-09
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2546218-0
ISSN	1661-8777 ; 1661-8769
ISSN (online)	1661-8777
ISSN	1661-8769
DOI	10.1159/000512160
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Article: Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities.

Estrada-Veras, Juvianee I / Cabrera-Peña, Giselle A / Pérez-Estrella de Ferrán, Ceila

Molecular genetics & genomic medicine

2016 Volume 4, Issue 3, Page(s) 243–256

Abstract: Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities. ...

Abstract	Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities.
Language	English
Publishing date	2016-05
Publishing country	United States
Document type	Journal Article
ZDB-ID	2734884-2
ISSN	2324-9269
ISSN	2324-9269
DOI	10.1002/mgg3.224
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Article: Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim-Chester Disease.

Shekhar, Skand / Irizarry-Caro, Jorge A / Sinaii, Ninet / Gahl, William A / Estrada-Veras, Juvianee I / Dave, Rahul H / Gochuico, Bernadette R / Papadakis, Georgios Z / Patronas, Nicholas / Stratakis, Constantine A / O'Brien, Kevin / Hannah-Shmouni, Fady

Cancers

2021 Volume 13, Issue 16

Abstract: Purpose: We examined abnormal pituitary imaging (API) and associated endocrine dysfunction in subjects with ECD.: Methods: A cross-sectional descriptive examination of a natural history cohort study diagnosed with ECD was conducted at a clinical ... ...

Abstract	Purpose: We examined abnormal pituitary imaging (API) and associated endocrine dysfunction in subjects with ECD. Methods: A cross-sectional descriptive examination of a natural history cohort study diagnosed with ECD was conducted at a clinical research center. Subjects underwent baseline endocrine tests of anterior and posterior pituitary function and dedicated pituitary gland MRI scans. We determined the frequency of various pituitary imaging abnormalities in ECD and assessed its relationships with age, sex, body mass index (BMI), Results: Our cohort included 61 subjects with ECD [age (SD): 54.3 (10.9) y, 46 males/15 females]. API was present in 47.5% (29/61) of ECD subjects. Loss of the posterior pituitary bright spot (36.1%) followed by thickened pituitary stalk (24.6%), abnormal enhancement (18.0%), and pituitary atrophy (14.8%) were the most common abnormalities. DI and panhypopituitarism were more frequent in subjects with API without differences in age, sex distribution, hsCRP, ESR, and Conclusions: We noted a high burden of API and endocrinopathies in ECD. API was highly associated with the presence of panhypopituitarism and DI. Therefore, a thorough assessment of hypothalamic-pituitary integrity should be considered in subjects with ECD.
Language	English
Publishing date	2021-08-17
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527080-1
ISSN	2072-6694
ISSN	2072-6694
DOI	10.3390/cancers13164126
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Article ; Online: Genome-Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim-Chester Disease.

Martínez-López, Javier / Márquez, Ana / Pegoraro, Francesco / Ortiz-Fernández, Lourdes / Acosta-Herrera, Marialbert / Kerick, Martin / Gelain, Elena / Diamond, Eli L / Durham, Benjamin H / Abdel-Wahab, Omar / Go, Ronald S / Koster, Matthew J / Dagna, Lorenzo / Campochiaro, Corrado / Collin, Matthew / Milne, Paul / Estrada-Veras, Juvianee I / O'Brien, Kevin / Papo, Matthias /

Cohen-Aubar, Fleur / Amoura, Zahir / Haroche, Julien / Martín, Javier / Vaglio, Augusto

Arthritis & rheumatology (Hoboken, N.J.)

2023 Volume 76, Issue 1, Page(s) 141–145

Abstract: Objective: Erdheim-Chester disease (ECD) is rare histiocytosis with a wide range of clinical manifestations. Somatic mutations are key to the pathogenesis of the disease; however, the relationship between germline genetic variants and ECD has not been ... ...

Abstract	Objective: Erdheim-Chester disease (ECD) is rare histiocytosis with a wide range of clinical manifestations. Somatic mutations are key to the pathogenesis of the disease; however, the relationship between germline genetic variants and ECD has not been examined so far. The present study aims to explore the inherited genetic component of ECD by performing the first genome-wide association study. Methods: After quality controls, a cohort of 255 patients with ECD and 7,471 healthy donors was included in this study. Afterward, a logistic regression followed by in silico functional annotation was performed. Results: A signal at the 18q12.3 genomic region was identified as a new susceptibility locus for ECD (P = 2.75 × 10 Conclusion: Overall, this work demonstrates that germline genetic variants can impact on the development of ECD and suggests new pathways with a potential pathogenic role.
MeSH term(s)	Humans ; Erdheim-Chester Disease/genetics ; Erdheim-Chester Disease/pathology ; Genome-Wide Association Study ; Genomics ; Germ Cells/pathology
Language	English
Publishing date	2023-11-07
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural
ZDB-ID	2756371-6
ISSN	2326-5205 ; 2326-5191
ISSN (online)	2326-5205
ISSN	2326-5191
DOI	10.1002/art.42673
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Article ; Online: Neurological manifestations of Erdheim-Chester Disease.

Boyd, Louisa C / O'Brien, Kevin J / Ozkaya, Neval / Lehky, Tanya / Meoded, Avner / Gochuico, Bernadette R / Hannah-Shmouni, Fady / Nath, Avindra / Toro, Camilo / Gahl, William A / Estrada-Veras, Juvianee I / Dave, Rahul H

Annals of clinical and translational neurology

2020 Volume 7, Issue 4, Page(s) 497–506

Abstract: Objective: To characterize the spectrum of neurologic involvement in Erdheim-Chester Disease (ECD), a treatable inflammatory neoplasm of histiocytes.: Methods: Sixty-two patients with ECD were prospectively enrolled in a natural history study that ... ...

Abstract	Objective: To characterize the spectrum of neurologic involvement in Erdheim-Chester Disease (ECD), a treatable inflammatory neoplasm of histiocytes. Methods: Sixty-two patients with ECD were prospectively enrolled in a natural history study that facilitated collection of clinical, imaging, laboratory, neurophysiologic, and pathologic data. Results: Ninety-four percent of the patients had neurologic abnormalities on examination or imaging, and 22% had neurologic symptoms as the initial presentation of ECD. The most common neurologic findings were cognitive impairment, peripheral neuropathy, pyramidal tract signs, cranial nerve involvement, and cerebellar ataxia. Imaging revealed atrophy and demyelination along with focal lesions that were located throughout the nervous system, dura, and extra-axial structures. The BRAF V600E variant correlated with cerebral atrophy. Brain pathology revealed lipid-laden, phagocytic macrophages (histiocytes) accompanied by demyelination and axonal degeneration. Interpretation: In patients with ECD, neurologic morbidity is common and contributes significantly to disability. Since neurologic symptoms can be the presenting feature of ECD and, given the mean delay in ECD diagnosis is 4.2 years, it is critical that neurologists consider of ECD and other histiocytosis in patients with inflammatory, infectious, or neoplastic-appearing white matter. Furthermore, given the broad spectrum of neurologic involvement, neurologists have an important role in a team of specialists treating ECD patients.
MeSH term(s)	Adult ; Aged ; Cerebellar Ataxia/diagnosis ; Cerebellar Ataxia/etiology ; Cerebellar Ataxia/physiopathology ; Cognitive Dysfunction/diagnosis ; Cognitive Dysfunction/etiology ; Cognitive Dysfunction/physiopathology ; Erdheim-Chester Disease/complications ; Erdheim-Chester Disease/diagnosis ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Nervous System Diseases/diagnosis ; Nervous System Diseases/etiology ; Nervous System Diseases/pathology ; Nervous System Diseases/physiopathology ; Peripheral Nervous System Diseases/diagnosis ; Peripheral Nervous System Diseases/etiology ; Peripheral Nervous System Diseases/physiopathology ; Prospective Studies ; Young Adult
Language	English
Publishing date	2020-03-29
Publishing country	United States
Document type	Clinical Study ; Journal Article ; Research Support, N.I.H., Intramural
ZDB-ID	2740696-9
ISSN	2328-9503 ; 2328-9503
ISSN (online)	2328-9503
ISSN	2328-9503
DOI	10.1002/acn3.51014
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Article ; Online: Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans.

Bai, Renkui / Cui, Hong / Devaney, Joseph M / Allis, Katrina M / Balog, Amanda M / Liu, Xinyue / Schnur, Rhonda E / Shapiro, Faye L / Brautbar, Ariel / Estrada-Veras, Juvianee I / Hochstetler, Laurel / McConkie-Rosell, Allyn / McDonald, Marie T / Solomon, Benjamin D / Hofherr, Sean / Richard, Gabriele / Suchy, Sharon F

Genetics in medicine : official journal of the American College of Medical Genetics

2021 Volume 23, Issue 8, Page(s) 1514–1521

Abstract: Purpose: Reports have questioned the dogma of exclusive maternal transmission of human mitochondrial DNA (mtDNA), including the recent report of an admixture of two mtDNA haplogroups in individuals from three multigeneration families. This was ... ...

Abstract	Purpose: Reports have questioned the dogma of exclusive maternal transmission of human mitochondrial DNA (mtDNA), including the recent report of an admixture of two mtDNA haplogroups in individuals from three multigeneration families. This was interpreted as being consistent with biparental transmission of mtDNA in an autosomal dominant-like mode. The authenticity and frequency of these findings are debated. Methods: We retrospectively analyzed individuals with two mtDNA haplogroups from 2017 to 2019 and selected four families for further study. Results: We identified this phenomenon in 104/27,388 (approximately 1/263) unrelated individuals. Further study revealed (1) a male with two mitochondrial haplogroups transmits only one haplogroup to some of his offspring, consistent with nuclear transmission; (2) the heteroplasmy level of paternally transmitted variants is highest in blood, lower in buccal, and absent in muscle or urine of the same individual, indicating it is inversely correlated with mtDNA content; and (3) paternally transmitted apparent large-scale mtDNA deletions/duplications are not associated with a disease phenotype. Conclusion: These findings strongly suggest that the observed mitochondrial haplogroup of paternal origin resulted from coamplification of rare, concatenated nuclear mtDNA segments with genuine mtDNA during testing. Evaluation of additional specimen types can help clarify the clinical significance of the observed results.
MeSH term(s)	DNA, Mitochondrial/genetics ; Haplotypes ; Humans ; Male ; Mitochondria/genetics ; Phenotype ; Retrospective Studies
Chemical Substances	DNA, Mitochondrial
Language	English
Publishing date	2021-04-12
Publishing country	United States
Document type	Journal Article
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1038/s41436-021-01166-1
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