Utility of morphologic assessment of bone marrow biopsy in diagnosis of lysosomal storage disorders
CONCLUSION: We have classified LSDs into GD and NP/NP-like diseases based on the morphology of the storage cells in the BM specimen. The hallmark findings on BM biopsy annexed with the comparative features of the two proposed categories can aid the clinician in clinching the diagnosis. Formulation of such a methodology will prove instrumental for patient care in an underresourced setting.PMID:36656217 | DOI:10.4103/ijpm.ijpm_725_21 (Source: Indian Journal of Pathology and Microbiology)
Source: Indian Journal of Pathology and Microbiology - January 19, 2023 Category: Pathology Authors: Nilay Nishith Saima H Siddiqui S K R Raja Neha Agrawal Shubha Phadke Seema Sharma Source Type: research
Utility of morphologic assessment of bone marrow biopsy in diagnosis of lysosomal storage disorders
CONCLUSION: We have classified LSDs into GD and NP/NP-like diseases based on the morphology of the storage cells in the BM specimen. The hallmark findings on BM biopsy annexed with the comparative features of the two proposed categories can aid the clinician in clinching the diagnosis. Formulation of such a methodology will prove instrumental for patient care in an underresourced setting.PMID:36656217 | DOI:10.4103/ijpm.ijpm_725_21 (Source: Indian Journal of Pathology and Microbiology)
Source: Indian Journal of Pathology and Microbiology - January 19, 2023 Category: Pathology Authors: Nilay Nishith Saima H Siddiqui S K R Raja Neha Agrawal Shubha Phadke Seema Sharma Source Type: research
Utility of morphologic assessment of bone marrow biopsy in diagnosis of lysosomal storage disorders
CONCLUSION: We have classified LSDs into GD and NP/NP-like diseases based on the morphology of the storage cells in the BM specimen. The hallmark findings on BM biopsy annexed with the comparative features of the two proposed categories can aid the clinician in clinching the diagnosis. Formulation of such a methodology will prove instrumental for patient care in an underresourced setting.PMID:36656217 | DOI:10.4103/ijpm.ijpm_725_21 (Source: Indian Journal of Pathology and Microbiology)
Source: Indian Journal of Pathology and Microbiology - January 19, 2023 Category: Pathology Authors: Nilay Nishith Saima H Siddiqui S K R Raja Neha Agrawal Shubha Phadke Seema Sharma Source Type: research
Utility of morphologic assessment of bone marrow biopsy in diagnosis of lysosomal storage disorders
CONCLUSION: We have classified LSDs into GD and NP/NP-like diseases based on the morphology of the storage cells in the BM specimen. The hallmark findings on BM biopsy annexed with the comparative features of the two proposed categories can aid the clinician in clinching the diagnosis. Formulation of such a methodology will prove instrumental for patient care in an underresourced setting.PMID:36656217 | DOI:10.4103/ijpm.ijpm_725_21 (Source: Indian Journal of Pathology and Microbiology)
Source: Indian Journal of Pathology and Microbiology - January 19, 2023 Category: Pathology Authors: Nilay Nishith Saima H Siddiqui S K R Raja Neha Agrawal Shubha Phadke Seema Sharma Source Type: research
Utility of morphologic assessment of bone marrow biopsy in diagnosis of lysosomal storage disorders
CONCLUSION: We have classified LSDs into GD and NP/NP-like diseases based on the morphology of the storage cells in the BM specimen. The hallmark findings on BM biopsy annexed with the comparative features of the two proposed categories can aid the clinician in clinching the diagnosis. Formulation of such a methodology will prove instrumental for patient care in an underresourced setting.PMID:36656217 | DOI:10.4103/ijpm.ijpm_725_21 (Source: Indian Journal of Pathology and Microbiology)
Source: Indian Journal of Pathology and Microbiology - January 19, 2023 Category: Pathology Authors: Nilay Nishith Saima H Siddiqui S K R Raja Neha Agrawal Shubha Phadke Seema Sharma Source Type: research
Utility of morphologic assessment of bone marrow biopsy in diagnosis of lysosomal storage disorders
CONCLUSION: We have classified LSDs into GD and NP/NP-like diseases based on the morphology of the storage cells in the BM specimen. The hallmark findings on BM biopsy annexed with the comparative features of the two proposed categories can aid the clinician in clinching the diagnosis. Formulation of such a methodology will prove instrumental for patient care in an underresourced setting.PMID:36656217 | DOI:10.4103/ijpm.ijpm_725_21 (Source: Indian Journal of Pathology and Microbiology)
Source: Indian Journal of Pathology and Microbiology - January 19, 2023 Category: Pathology Authors: Nilay Nishith Saima H Siddiqui S K R Raja Neha Agrawal Shubha Phadke Seema Sharma Source Type: research
Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes
Cerebellum. 2023 Jan 14. doi: 10.1007/s12311-023-01514-8. Online ahead of print.ABSTRACTCharacterizing bedside oculomotor deficits is a critical factor in defining the clinical presentation of hereditary ataxias. Quantitative assessments are increasingly available and have significant advantages, including comparability over time, reduced examiner dependency, and sensitivity to subtle changes. To delineate the potential of quantitative oculomotor assessments as digital-motor outcome measures for clinical trials in ataxia, we searched MEDLINE for articles reporting on quantitative eye movement recordings in genetically conf...
Source: Cerebellum - January 14, 2023 Category: Neuroscience Authors: Pilar Garces Chrystalina A Antoniades Anna Sobanska Norbert Kovacs Sarah H Ying Anoopum S Gupta Susan Perlman David J Szmulewicz Chiara Pane Andrea H N émeth Laura B Jardim Giulia Coarelli Michaela Dankova Andreas Trasch ütz Alexander A Tarnutzer Source Type: research
Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes
Cerebellum. 2023 Jan 14. doi: 10.1007/s12311-023-01514-8. Online ahead of print.ABSTRACTCharacterizing bedside oculomotor deficits is a critical factor in defining the clinical presentation of hereditary ataxias. Quantitative assessments are increasingly available and have significant advantages, including comparability over time, reduced examiner dependency, and sensitivity to subtle changes. To delineate the potential of quantitative oculomotor assessments as digital-motor outcome measures for clinical trials in ataxia, we searched MEDLINE for articles reporting on quantitative eye movement recordings in genetically conf...
Source: Cerebellum - January 14, 2023 Category: Neuroscience Authors: Pilar Garces Chrystalina A Antoniades Anna Sobanska Norbert Kovacs Sarah H Ying Anoopum S Gupta Susan Perlman David J Szmulewicz Chiara Pane Andrea H N émeth Laura B Jardim Giulia Coarelli Michaela Dankova Andreas Trasch ütz Alexander A Tarnutzer Source Type: research
Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes
Cerebellum. 2023 Jan 14. doi: 10.1007/s12311-023-01514-8. Online ahead of print.ABSTRACTCharacterizing bedside oculomotor deficits is a critical factor in defining the clinical presentation of hereditary ataxias. Quantitative assessments are increasingly available and have significant advantages, including comparability over time, reduced examiner dependency, and sensitivity to subtle changes. To delineate the potential of quantitative oculomotor assessments as digital-motor outcome measures for clinical trials in ataxia, we searched MEDLINE for articles reporting on quantitative eye movement recordings in genetically conf...
Source: Cerebellum - January 14, 2023 Category: Neuroscience Authors: Pilar Garces Chrystalina A Antoniades Anna Sobanska Norbert Kovacs Sarah H Ying Anoopum S Gupta Susan Perlman David J Szmulewicz Chiara Pane Andrea H N émeth Laura B Jardim Giulia Coarelli Michaela Dankova Andreas Trasch ütz Alexander A Tarnutzer Source Type: research
Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes
AbstractCharacterizing bedside oculomotor deficits is a critical factor in defining the clinical presentation of hereditary ataxias. Quantitative assessments are increasingly available and have significant advantages, including comparability over time, reduced examiner dependency, and sensitivity to subtle changes. To delineate the potential of quantitative oculomotor assessments as digital-motor outcome measures for clinical trials in ataxia, we searched MEDLINE for articles reporting on quantitative eye movement recordings in genetically confirmed or suspected hereditary ataxias, asking which paradigms are most promising...
Source: The Cerebellum - January 14, 2023 Category: Neurology Source Type: research
Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA
Arch Biochem Biophys. 2023 Jan 3:109510. doi: 10.1016/j.abb.2023.109510. Online ahead of print.ABSTRACTNiemann-Pick type C1 (NPC1) is a fatal inherited disease, caused by pathogenic variants in NPC1 gene, which leads to intracellular accumulation of non-esterified cholesterol and glycosphingolipids. This accumulation leads to a wide range of clinical manifestations, including neurological and cognitive impairment as well as psychiatric disorders. The pathophysiology of cerebral damage involves loss of Purkinje cells, synaptic disturbance, and demyelination. Miglustat, a reversible inhibitor of glucosylceramide synthase, is...
Source: Archives of Biochemistry and Biophysics - January 7, 2023 Category: Biochemistry Authors: Tatiane Grazieli Hammerschmidt Marisa Encarna ção J éssica Lamberty Faverzani Franciele de F átima Lopes Fabiano Poswar de Oliveira Carolina Fischinger Moura de Sousa Isaura Ribeiro Sandra Alves Roberto Giugliani Carmen Regla Vargas Source Type: research
Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA
Arch Biochem Biophys. 2023 Jan 4;735:109510. doi: 10.1016/j.abb.2023.109510. Online ahead of print.ABSTRACTNiemann-Pick type C1 (NPC1) is a fatal inherited disease, caused by pathogenic variants in NPC1 gene, which leads to intracellular accumulation of non-esterified cholesterol and glycosphingolipids. This accumulation leads to a wide range of clinical manifestations, including neurological and cognitive impairment as well as psychiatric disorders. The pathophysiology of cerebral damage involves loss of Purkinje cells, synaptic disturbance, and demyelination. Miglustat, a reversible inhibitor of glucosylceramide synthase...
Source: Archives of Biochemistry and Biophysics - January 7, 2023 Category: Biochemistry Authors: Tatiane Grazieli Hammerschmidt Marisa Encarna ção J éssica Lamberty Faverzani Franciele de F átima Lopes Fabiano Poswar de Oliveira Carolina Fischinger Moura de Sousa Isaura Ribeiro Sandra Alves Roberto Giugliani Carmen Regla Vargas Source Type: research
The coexistence of two rare diseases thought to use the same pathologic pathway: cystic fibrosis and Niemann-Pick disease
CONCLUSIONS: Although CF and NP have common systems of involvement in both diseases, pathological symptoms have different origins. If a patient with CF has simultaneous neuromotor delay, other autosomal recessive diseases that may accompany it should be suspected. In studies, similar pathological pathways related to abnormal cholesterol accumulation in the cell were detected between NP type C and CF. But our case was NPA. As case reports on the coexistence of the two diseases increase, we believe that a better understanding of similar pathological pathways may lead to new therapeutic targets for both diseases.PMID:36583901...
Source: The Turkish Journal of Pediatrics - December 30, 2022 Category: Pediatrics Authors: Asl ı İmran Yılmaz Bet ül Uğurlu G ökçen Ünal H üseyin Tokgöz Sevgi Pekcan Source Type: research
The coexistence of two rare diseases thought to use the same pathologic pathway: cystic fibrosis and Niemann-Pick disease
CONCLUSIONS: Although CF and NP have common systems of involvement in both diseases, pathological symptoms have different origins. If a patient with CF has simultaneous neuromotor delay, other autosomal recessive diseases that may accompany it should be suspected. In studies, similar pathological pathways related to abnormal cholesterol accumulation in the cell were detected between NP type C and CF. But our case was NPA. As case reports on the coexistence of the two diseases increase, we believe that a better understanding of similar pathological pathways may lead to new therapeutic targets for both diseases.PMID:36583901...
Source: The Turkish Journal of Pediatrics - December 30, 2022 Category: Pediatrics Authors: Asl ı İmran Yılmaz Bet ül Uğurlu G ökçen Ünal H üseyin Tokgöz Sevgi Pekcan Source Type: research
The coexistence of two rare diseases thought to use the same pathologic pathway: cystic fibrosis and Niemann-Pick disease
CONCLUSIONS: Although CF and NP have common systems of involvement in both diseases, pathological symptoms have different origins. If a patient with CF has simultaneous neuromotor delay, other autosomal recessive diseases that may accompany it should be suspected. In studies, similar pathological pathways related to abnormal cholesterol accumulation in the cell were detected between NP type C and CF. But our case was NPA. As case reports on the coexistence of the two diseases increase, we believe that a better understanding of similar pathological pathways may lead to new therapeutic targets for both diseases.PMID:36583901...
Source: The Turkish Journal of Pediatrics - December 30, 2022 Category: Pediatrics Authors: Asl ı İmran Yılmaz Bet ül Uğurlu G ökçen Ünal H üseyin Tokgöz Sevgi Pekcan Source Type: research
