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Article ; Online: Evolving therapies in neuronopathic LSDs: opportunities and challenges.

Rajan, Deepa S / Escolar, Maria L

2022 Volume 37, Issue 7, Page(s) 2245–2256

Abstract: Lysosomal storage disorders (LSD) are multisystemic progressive disorders caused by genetic mutations involving lysosomal function. While LSDs are individually considered rare diseases, the overall true prevalence of these disorders is likely higher than ...

Abstract	Lysosomal storage disorders (LSD) are multisystemic progressive disorders caused by genetic mutations involving lysosomal function. While LSDs are individually considered rare diseases, the overall true prevalence of these disorders is likely higher than our current estimates. More than two third of the LSDs have associated neurodegeneration and the neurological phenotype often defines the course of the disease and treatment outcomes. Addressing the neurological involvement in LSDs has posed a significant challenge in the rapidly evolving field of therapies for these diseases. In this review, we summarize current approaches and clinical trials available for patients with neuronopathic lysosomal storage disorders, exploring the opportunities and challenges that have emerged with each of these.
MeSH term(s)	Humans ; Genetic Therapy ; Lysosomal Storage Diseases/genetics ; Lysosomal Storage Diseases/therapy ; Lysosomes ; Mutation
Language	English
Publishing date	2022-04-20
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	632824-6
ISSN	1573-7365 ; 0885-7490
ISSN (online)	1573-7365
ISSN	0885-7490
DOI	10.1007/s11011-022-00939-0
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Article: Pathogenic Variants in

Bascou, Nicholas A / Beltran-Quintero, Maria L / Escolar, Maria L

Frontiers in neurology

2020 Volume 11, Page(s) 563724

Abstract: Background: ...

Abstract	Background:
Language	English
Publishing date	2020-10-15
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2564214-5
ISSN	1664-2295
ISSN	1664-2295
DOI	10.3389/fneur.2020.563724
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Article: Improved Brain Pathology and Progressive Peripheral Neuropathy in a 15 Year Old Survivor of Infantile Krabbe Disease Treated With Umbilical Cord Transplantation.

Kofler, Julia / Beltran-Quintero, Maria L / Rugari, Anne / Zuccoli, Giulio / Klotz, Sarah / Escolar, Maria L

Frontiers in molecular neuroscience

2022 Volume 15, Page(s) 888231

Abstract: Objective: Krabbe disease is a fatal leukodystrophy caused by deficiency in galactocerebrosidase enzyme activity. The only currently available therapy is hematopoietic stem cell transplantation with bone marrow or umbilical cord blood (UCBT), which ... ...

Abstract	Objective: Krabbe disease is a fatal leukodystrophy caused by deficiency in galactocerebrosidase enzyme activity. The only currently available therapy is hematopoietic stem cell transplantation with bone marrow or umbilical cord blood (UCBT), which leads to increased lifespan and functional abilities when performed in the preclinical stage. While stabilization of white matter disease has been seen on serial MRI studies, neuropathological changes following transplantation have not been documented so far. Materials and methods: We report the first postmortem examination of a 15-year-old female patient with infantile Krabbe disease after UCBT in infancy. Results: In contrast to an untreated Krabbe disease brain, which showed severe myelin and oligodendrocyte loss with occasional globoid cells, the transplanted brain displayed markedly improved myelin preservation, but not reaching normal myelination levels. Consistent with the transplanted patient's clinical presentation of pronounced deficits in gross motor skills, corticospinal tracts were most severely affected. No globoid cells or evidence of active demyelination were observed in the central nervous system, indicative of at least partially successful functional restoration. This was corroborated by the identification of male donor-derived cells in the brain by Conclusion: Umbilical cord blood transplantation was able to alter the natural disease progression in the central but less so in the peripheral nervous system, possibly due to limited cross-correction of Schwann cells.
Language	English
Publishing date	2022-07-28
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2452967-9
ISSN	1662-5099
ISSN	1662-5099
DOI	10.3389/fnmol.2022.888231
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Article ; Online: A commentary on high-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II.

Escolar, Maria L

Journal of human genetics

2013 Volume 58, Issue 12, Page(s) 767–768

MeSH term(s)	Animals ; Brain/drug effects ; Enzyme Replacement Therapy ; Glycoproteins/therapeutic use ; Humans ; Hydrocephalus/drug therapy ; Mucopolysaccharidosis II/drug therapy
Chemical Substances	Glycoproteins
Language	English
Publishing date	2013-12
Publishing country	England
Document type	Comment ; Journal Article
ZDB-ID	1425192-9
ISSN	1435-232X ; 1434-5161
ISSN (online)	1435-232X
ISSN	1434-5161
DOI	10.1038/jhg.2013.115
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Article ; Online: Clinical Performance Evaluation of a Rapid Real-Time PCR Assay for Monkeypox Diagnosis: a Retrospective and Comparative Study.

Peris, María Paz / Clusa, Laura / Alonso, Henar / Escolar, Cristina / Fortuño, Blanca / Rezusta, Antonio / Milagro, Ana

Microbiology spectrum

2023 Volume 11, Issue 3, Page(s) e0051023

Abstract: In an increasingly globalized and interconnected world, the outbreak of an infectious disease in one country can become a worrying health emergency for the whole world. A current example is the 2022 monkeypox virus (mpox) outbreak affecting multiple ... ...

Abstract	In an increasingly globalized and interconnected world, the outbreak of an infectious disease in one country can become a worrying health emergency for the whole world. A current example is the 2022 monkeypox virus (mpox) outbreak affecting multiple areas across the world. In this context, strategies to interrupt transmission as soon as possible by identifying cases, clusters, and sources of infection should be developed around the world to prevent these crises. The aim of this retrospective and collaborative study was to perform external clinical validation of the VIASURE monkeypox virus real-time PCR detection kit (CerTest Biotec, Spain) with ready-to-use reagents designed for the rapid detection of mpox. A total of 165 samples with suspected infection were used for this analysis. The standard procedures of the clinical microbiology laboratory of the Miguel Servet University Hospital, using the RealStar
MeSH term(s)	Humans ; Mpox (monkeypox)/diagnosis ; Mpox (monkeypox)/epidemiology ; Real-Time Polymerase Chain Reaction ; Retrospective Studies ; Disease Outbreaks ; Laboratories
Language	English
Publishing date	2023-05-16
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2807133-5
ISSN	2165-0497 ; 2165-0497
ISSN (online)	2165-0497
ISSN	2165-0497
DOI	10.1128/spectrum.00510-23
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Article ; Online: Retrospective and Comparative Study of Three Molecular Assays for the Macrolide Resistance Detection in

Peris, María Paz / Dehesa, Blanca / Alonso, Henar / Escolar, Cristina / Clusa, Laura / Latorre-Millán, Miriam / Rezusta, Antonio / Milagro, Ana

International journal of molecular sciences

2023 Volume 24, Issue 8

Abstract: The capacity ... ...

Abstract	The capacity of
MeSH term(s)	Humans ; Anti-Bacterial Agents/pharmacology ; Anti-Bacterial Agents/therapeutic use ; Macrolides/pharmacology ; Macrolides/therapeutic use ; Mycoplasma genitalium/genetics ; Retrospective Studies ; Drug Resistance, Bacterial/genetics ; Mutation ; Mycoplasma Infections/diagnosis ; Mycoplasma Infections/drug therapy ; Mycoplasma Infections/microbiology
Chemical Substances	Anti-Bacterial Agents ; Macrolides
Language	English
Publishing date	2023-04-13
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms24087218
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Article ; Online: Spontaneous Third Ventriculostomy in Krabbe Disease.

Zuccoli, Giulio / Kim, Aram / Poe, Michele / Escolar, Maria L

Pediatric neurology

2019 Volume 108, Page(s) 99–105

Abstract: Introduction: Spontaneous third ventriculostomies have been reported in relation to obstructive hydrocephalus and increased intracranial pressure and are most commonly seen as disruption of the floor of the third ventricle. Hydrocephalus has been ... ...

Abstract	Introduction: Spontaneous third ventriculostomies have been reported in relation to obstructive hydrocephalus and increased intracranial pressure and are most commonly seen as disruption of the floor of the third ventricle. Hydrocephalus has been reported in patients with Krabbe disease; however, it is clinically difficult to monitor for hydrocephalus in patients with Krabbe disease as symptoms of increased intracranial pressure may overlap with symptoms of Krabbe disease. We describe a case series of spontaneous third ventriculostomy and hydrocephalus, likely in response to increased intracranial pressure, in patients with infantile Krabbe disease. Methods: Brain magnetic resonance images of patients with infantile Krabbe disease were retrospectively analyzed to assess for ventricular size and presence of spontaneous third ventriculostomies. A brain atlas was used to standardize the calculation of ventricular size. Mid-sagittal, T2-weighted images around the third ventricle were assessed for spontaneous third ventriculostomies. Developmental outcomes were measured with a series of standardized and validated tests. Results: Seventy-five patients with infantile Krabbe disease were evaluated. Twelve cases of spontaneous third ventriculostomies were identified. Head circumference (SE = 8.07; P < 0.001) and average ventricular volume were greater (left: SE = 1.47, P < 0.001) in patients with spontaneous third ventriculostomies when compared with patients without spontaneous third ventriculostomies. Patients with spontaneous third ventriculostomies also had more delayed development in adaptive (difference = 0.2, P < 0.01), gross motor (difference = 0.0, P < 0.01), and fine motor (difference = 0.1, P < 0.001) function. Conclusions: Spontaneous third ventriculostomies, likely in the context of increased intracranial pressure, were identified in patients with Krabbe disease. Although difficult to assess, our study highlights the importance of monitoring for increased intracranial pressure, which can result in spontaneous third ventriculostomies, in patients with infantile Krabbe disease.
MeSH term(s)	Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Hydrocephalus/diagnosis ; Hydrocephalus/etiology ; Infant ; Intracranial Hypertension/diagnosis ; Intracranial Hypertension/etiology ; Leukodystrophy, Globoid Cell/complications ; Magnetic Resonance Imaging ; Male ; Third Ventricle/diagnostic imaging ; Third Ventricle/pathology
Language	English
Publishing date	2019-12-02
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	639164-3
ISSN	1873-5150 ; 0887-8994
ISSN (online)	1873-5150
ISSN	0887-8994
DOI	10.1016/j.pediatrneurol.2019.11.014
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Article ; Online: Long-term neurodevelopmental outcomes of hematopoietic stem cell transplantation for late-infantile Krabbe disease.

Yoon, Isabel C / Bascou, Nicholas A / Poe, Michele D / Szabolcs, Paul / Escolar, Maria L

Blood

2020 Volume 137, Issue 13, Page(s) 1719–1730

Abstract: Krabbe disease is a rare neurodegenerative disorder caused by a deficiency in galactocerebrosidase. The only effective treatment is hematopoietic stem cell transplantation (HSCT). Approximately 85% of Krabbe disease cases are the infantile subtypes, ... ...

Abstract	Krabbe disease is a rare neurodegenerative disorder caused by a deficiency in galactocerebrosidase. The only effective treatment is hematopoietic stem cell transplantation (HSCT). Approximately 85% of Krabbe disease cases are the infantile subtypes, among which ∼20% are late infantile. Prior studies have demonstrated that HSCT is effective for early-infantile patients (0-6 months of age) who undergo transplantation while asymptomatic, compared with those receiving transplants while symptomatic. However, no studies evaluated the efficacy of HSCT for late-infantile patients (6-36 months). In this prospective, longitudinal study, patients were evaluated at a single site according to a standardized protocol. Survival analysis was performed using the Kaplan-Meier method. Differences between groups were estimated using mixed regression models to account for within-person repeated measures. Nineteen late-infantile patients underwent HSCT (March 1997 to January 2020). Compared with untreated patients, transplant recipients had a longer survival probability and improved cognitive and language function. Gross and fine motor development were most affected, with variable results. Asymptomatic patients benefitted the most from transplantation, with normal to near-normal development in all domains and some gross motor delays. Among symptomatic patients, those with disease onset at >12 months of age had better cognitive outcomes than untreated patients. Those with disease onset at ≤12 months were comparable to untreated patients. We found that HSCT prolonged the lifespan and improved the functional abilities of late-infantile patients with Krabbe disease, particularly those who underwent transplantation before onset of symptoms. In addition, our findings support prior literature that reclassifies late-infantile Krabbe disease to be symptom onset at 12 to 36 months of age.
MeSH term(s)	Brain/growth & development ; Brain/physiopathology ; Child, Preschool ; Cognition ; Female ; Hematopoietic Stem Cell Transplantation ; Humans ; Infant ; Infant, Newborn ; Language Development ; Leukodystrophy, Globoid Cell/physiopathology ; Leukodystrophy, Globoid Cell/therapy ; Longitudinal Studies ; Male ; Treatment Outcome
Language	English
Publishing date	2020-11-05
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	80069-7
ISSN	1528-0020 ; 0006-4971
ISSN (online)	1528-0020
ISSN	0006-4971
DOI	10.1182/blood.2020005477
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Article ; Online: Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations - Neurological signs and symptoms.

Shapiro, Elsa G / Jones, Simon A / Escolar, Maria L

Molecular genetics and metabolism

2017 Volume 122S, Page(s) 1–7

Abstract: The mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders, caused by mutations in lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs). The resulting accumulation of GAGs in the body leads to ... ...

Abstract	The mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders, caused by mutations in lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs). The resulting accumulation of GAGs in the body leads to widespread tissue and organ dysfunction. The spectrum, severity, and progression rate of clinical manifestations varies widely between and within the different MPS types. In addition to somatic signs and symptoms, which vary between the different MPS disorders, patients with MPS I, II, III, and VII present with significant neurological signs and symptoms, including impaired cognitive abilities, difficulties in language and speech, and/or behavioral and sleep problems. To effectively manage and develop therapies that target these neurological manifestations, it is of utmost importance to have a profound knowledge of their natural history and pathophysiology. This review describes the appearance and progression of neurological signs and symptoms in patients with MPS I, II, and III, based on presentations and discussions among an international group of experts during a meeting on the brain in MPS on April 28-30, 2016, and additional literature searches on this subject.
MeSH term(s)	Brain/cytology ; Brain/drug effects ; Brain/growth & development ; Brain/metabolism ; Child ; Child Behavior/drug effects ; Child Development/drug effects ; Child, Preschool ; Cognitive Dysfunction/diagnosis ; Cognitive Dysfunction/genetics ; Cognitive Dysfunction/pathology ; Cognitive Dysfunction/therapy ; Congresses as Topic ; Disease Progression ; Glycosaminoglycans/metabolism ; Glycosaminoglycans/toxicity ; Hematopoietic Stem Cell Transplantation ; Humans ; Lysosomes/drug effects ; Lysosomes/enzymology ; Melatonin/pharmacology ; Melatonin/therapeutic use ; Mucopolysaccharidoses/diagnosis ; Mucopolysaccharidoses/genetics ; Mucopolysaccharidoses/pathology ; Mucopolysaccharidoses/therapy ; Neuropsychological Tests
Chemical Substances	Glycosaminoglycans ; Melatonin (JL5DK93RCL)
Language	English
Publishing date	2017-08-26
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1418518-0
ISSN	1096-7206 ; 1096-7192
ISSN (online)	1096-7206
ISSN	1096-7192
DOI	10.1016/j.ymgme.2017.08.009
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Article ; Online: β-Galactosylceramidase Deficiency Causes Upregulation of Long Pentraxin-3 in the Central Nervous System of Krabbe Patients and

Coltrini, Daniela / Chandran, Adwaid Manu Krishna / Belleri, Mirella / Poliani, Pietro L / Cominelli, Manuela / Pagani, Francesca / Capra, Miriam / Calza, Stefano / Prioni, Simona / Mauri, Laura / Prinetti, Alessandro / Kofler, Julia K / Escolar, Maria L / Presta, Marco

International journal of molecular sciences

2022 Volume 23, Issue 16

Abstract: Globoid cell leukodystrophy (GLD), or Krabbe disease, is a neurodegenerative sphingolipidosis caused by genetic deficiency of ... ...

Abstract	Globoid cell leukodystrophy (GLD), or Krabbe disease, is a neurodegenerative sphingolipidosis caused by genetic deficiency of lysosomal
MeSH term(s)	Animals ; C-Reactive Protein/genetics ; Central Nervous System/metabolism ; Disease Models, Animal ; Galactosylceramidase/deficiency ; Galactosylceramidase/genetics ; Humans ; Leukodystrophy, Globoid Cell/metabolism ; Mice ; Mice, Transgenic ; Nerve Tissue Proteins/genetics ; Psychosine ; Up-Regulation
Chemical Substances	Nerve Tissue Proteins ; neuronal pentraxin ; Psychosine (2238-90-6) ; C-Reactive Protein (9007-41-4) ; Galactosylceramidase (EC 3.2.1.46)
Language	English
Publishing date	2022-08-21
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms23169436
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