Central sleep apnea and daytime sleepiness in Niemann-Pick type C disease: a report of 2 cases
Journal of Clinical Sleep Medicine,Volume 19, Issue 2, Page 409-414, February 2023. (Source: Journal of Clinical Sleep Medicine : JCSM)
Source: Journal of Clinical Sleep Medicine : JCSM - February 1, 2023 Category: Sleep Medicine Authors: Yimeng Zhang
Yueyang Cheng
Ning Li
Yue Hou
Lidong Jiao
Yuan Yuan
Li Wang
Zhaoyang Huang
Fang Han
Haifeng Li
Shuqin Zhan
1Xuanwu Hospital, Capital Medical University, Beijing, China
2Peking University People ’s Hospital, Beijing, China Source Type: research
Evidence of redox imbalance and mitochondrial dysfunction in Niemann-Pick type C 1 patients: the in vitro effect of combined therapy with antioxidants and β‐cyclodextrin nanoparticles
AbstractNiemann-Pick C disease (NPC) is an autosomal recessive genetic disorder resulting from mutation in one of two cholesterol transport genes:NPC1 orNPC2, causing accumulation of unesterified cholesterol, together with glycosphingolipids, within the endosomal/lysosomal compartment of cells. The result is a severe disease in both multiple peripheral organs and the central nervous system, causing neurodegeneration and early death. However, the pathophysiological mechanisms of NPC1 remain poorly understood. Recent studies have shown that the primary lysosomal defect found in fibroblasts from NPC1 patients is accompanied b...
Source: Metabolic Brain Disease - January 26, 2023 Category: Neurology 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
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
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
