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Article: Metabolic Contributions to Pathobiology of Asthma.

Roshan Lal, Tamanna / Cechinel, Laura Reck / Freishtat, Robert / Rastogi, Deepa

2023 Volume 13, Issue 2

Abstract: Asthma is a heterogenous disorder driven by inflammatory mechanisms that result in multiple phenotypes. Given the complex nature of this condition, metabolomics is being used to delineate the pathobiology of asthma. Metabolomics is the study of ... ...

Abstract	Asthma is a heterogenous disorder driven by inflammatory mechanisms that result in multiple phenotypes. Given the complex nature of this condition, metabolomics is being used to delineate the pathobiology of asthma. Metabolomics is the study of metabolites in biology, which includes biofluids, cells, and tissues. These metabolites have a vital role in a disease as they contribute to the pathogenesis of said condition. This review describes how macrometabolic and micrometabolic studies pertaining to these metabolites have contributed to our current understanding of asthma, as well as its many phenotypes. One of the main phenotypes this review will discuss in further detail is obesity as well as diabetes. Distinct roles of metabolites in endotyping asthma and their translation to potential therapy development for asthma is also discussed in this review.
Language	English
Publishing date	2023-01-31
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2662251-8
ISSN	2218-1989
ISSN	2218-1989
DOI	10.3390/metabo13020212
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: The past, present, and future of child growth monitoring: A review and primer for clinical genetics.

Shur, Natasha / Tigranyan, Annie / Daymont, Carrie / Regier, Debra S / Raturi, Sumant / Roshan Lal, Tamanna / Cleary, Kevin / Summar, Marshall

American journal of medical genetics. Part A

2023 Volume 191, Issue 4, Page(s) 948–961

Abstract: Child growth measurements are critical vital signs to track, with every individual child growth curve potentially revealing a story about a child's health and well-being. Simply put, every baby born requires basic building blocks to grow and thrive: ... ...

Abstract	Child growth measurements are critical vital signs to track, with every individual child growth curve potentially revealing a story about a child's health and well-being. Simply put, every baby born requires basic building blocks to grow and thrive: proper nutrition, love and care, and medical health. To ensure that every child who is missing one of these vital aspects is identified, growth is traditionally measured at birth and each well-child visit. While the blue and pink growth curves appear omnipresent in pediatric clinics, it is surprising to realize that their use only became standard of care in 1977 when the National Center for Health Statistics (NCHS) adopted the growth curve as a clinical tool for health. Behind this practice lies a socioeconomically, culturally, and politically complex interplay of individuals and institutions around the world. In this review, we highlight the often forgotten past, current state of practice, and future potential of this powerful clinical tool: the growth reference chart, with a particular focus on clinical genetics practice. The goal of this article is to understand ongoing work in the field of anthropometry (the scientific study of human measurements) and its direct impact on modern pediatric and genetic patient care.
MeSH term(s)	Infant ; Infant, Newborn ; Child ; Humans ; Child Development ; Nutritional Status ; Anthropometry
Language	English
Publishing date	2023-01-28
Publishing country	United States
Document type	Review ; Journal Article
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.63102
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Article: The Spectrum of Neurological Manifestations Associated with Gaucher Disease.

Roshan Lal, Tamanna / Sidransky, Ellen

Diseases (Basel, Switzerland)

2017 Volume 5, Issue 1

Abstract: Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral, ... ...

Abstract	Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral, bone and neurologic systems. Gaucher disease is classified into three broad phenotypes based upon the presence or absence of neurological involvement: type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic). Phenotypically, there is a wide spectrum of visceral and neurological manifestations. Enzyme replacement is effective in managing the visceral disease; however, treating the neurological manifestations has proved to be more challenging. This review discusses the various neurological manifestations encountered in Gaucher disease, and provides a brief overview regarding the treatment and ongoing research challenges.
Language	English
Publishing date	2017-03-02
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2720869-2
ISSN	2079-9721
ISSN	2079-9721
DOI	10.3390/diseases5010010
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Article ; Online: The Spectrum of Neurological Manifestations Associated with Gaucher Disease

Tamanna Roshan Lal / Ellen Sidransky

Diseases, Vol 5, Iss 1, p

2017 Volume 10

Abstract	Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral, bone and neurologic systems. Gaucher disease is classified into three broad phenotypes based upon the presence or absence of neurological involvement: type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic). Phenotypically, there is a wide spectrum of visceral and neurological manifestations. Enzyme replacement is effective in managing the visceral disease; however, treating the neurological manifestations has proved to be more challenging. This review discusses the various neurological manifestations encountered in Gaucher disease, and provides a brief overview regarding the treatment and ongoing research challenges.
Keywords	Gaucher disease ; neuronopathic ; parkinsonism ; glucocerebrosidase gene (GBA1) ; glucocerebrosidase ; myoclonic epilepsy ; Medicine ; R
Subject code	610
Language	English
Publishing date	2017-03-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Pediatric medical genetics house call: Telemedicine for the next generation of patients and providers.

Cohen, Andrea J / Shur, Natasha / Starin, Danielle / MacLeod, Erin / Roshan Lal, Tamanna / Leon, Eyby / Regier, Debra S

American journal of medical genetics. Part C, Seminars in medical genetics

2021 Volume 187, Issue 1, Page(s) 55–63

Abstract: In an era of increasing technology and interaction with the patient bedside, we explore the role of relocating the bedside from the hospital to the home using telemedicine. The COVID-19 pandemic pushed telemedicine from small and pilot programs to ... ...

Abstract	In an era of increasing technology and interaction with the patient bedside, we explore the role of relocating the bedside from the hospital to the home using telemedicine. The COVID-19 pandemic pushed telemedicine from small and pilot programs to widespread practice at an unprecedented rate. With the rapid implementation of telemedicine, it is important to consider how to create a telehealth system that provides both good care for patients and families while maintaining an excellent education environment for trainees of all levels. To this end, we developed telemedicine educational milestones to describe novel skills required to provide high quality telemedicine care, and allow trainees and clinical educators a metric by which to assess trainee progress. We also created methods and tools to help trainees learn and families feel comfortable in their new role as virtual collaborators. We envision a time when safety does not set the venue; instead the needs of the patient will dictate whether a virtual or in-person visit is the right choice for a family. We expect that pediatric medical genetics and metabolism groups across the country will continue to set a standard of a hybrid care system to meet the unique needs of each individual patient, using telemedicine technology.
MeSH term(s)	COVID-19/epidemiology ; COVID-19/virology ; Child ; Education, Medical ; Genetics, Medical/methods ; Health Personnel ; Hospitals, Pediatric ; House Calls/statistics & numerical data ; Humans ; Pandemics/statistics & numerical data ; Patient Care ; Quality Improvement ; Quality of Health Care ; SARS-CoV-2 ; Telemedicine/methods ; Telemedicine/statistics & numerical data
Language	English
Publishing date	2021-01-11
Publishing country	United States
Document type	Journal Article
ZDB-ID	2108622-9
ISSN	1552-4876 ; 0148-7299 ; 1552-4868
ISSN (online)	1552-4876
ISSN	0148-7299 ; 1552-4868
DOI	10.1002/ajmg.c.31882
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Article ; Online: Once again, rare diseases provide a spotlight.

Lal, Tamanna Roshan / Borger, Daniel K / Sidransky, Ellen

Molecular genetics and metabolism

2016 Volume 118, Issue 1, Page(s) 1–2

MeSH term(s)	Animals ; Diagnosis, Differential ; Disease Models, Animal ; Gaucher Disease/complications ; Gaucher Disease/metabolism ; Humans ; Lysophosphatidylcholines/immunology ; Monoclonal Gammopathy of Undetermined Significance/etiology ; Monoclonal Gammopathy of Undetermined Significance/immunology ; Monoclonal Gammopathy of Undetermined Significance/metabolism ; Multiple Myeloma/etiology ; Multiple Myeloma/immunology ; Multiple Myeloma/metabolism ; Rare Diseases
Chemical Substances	Lysophosphatidylcholines
Language	English
Publishing date	2016-05
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Intramural
ZDB-ID	1418518-0
ISSN	1096-7206 ; 1096-7192
ISSN (online)	1096-7206
ISSN	1096-7192
DOI	10.1016/j.ymgme.2016.03.002
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Article ; Online: The natural history of type 2 Gaucher disease in the 21st century: A retrospective study.

Roshan Lal, Tamanna / Seehra, Gurpreet K / Steward, Alta M / Poffenberger, Chelsie N / Ryan, Emory / Tayebi, Nahid / Lopez, Grisel / Sidransky, Ellen

Neurology

2020 Volume 95, Issue 15, Page(s) e2119–e2130

Abstract: Objective: To gather natural history data to better understand the changing course of type 2 Gaucher disease (GD2) in order to guide future interventional protocols.: Methods: A structured interview was conducted with parents of living or deceased ... ...

Abstract	Objective: To gather natural history data to better understand the changing course of type 2 Gaucher disease (GD2) in order to guide future interventional protocols. Methods: A structured interview was conducted with parents of living or deceased patients with GD2. Retrospective information obtained included disease presentation, progression, medical and surgical history, medications, family history, management, complications, and cause of death, as well as the impact of disease on families. Results: Data from 23 patients were analyzed (20 deceased and 3 living), showing a mean age at death of 19.2 months, ranging from 3 to 55 months. Fourteen patients were treated with enzyme replacement therapy, 2 were treated with substrate reduction therapy, and 3 underwent bone marrow transplantation. Five patients received ambroxol and one was on Conclusions: Current available therapies appear to prolong life but do not alter neurologic manifestations. Despite aggressive therapeutic interventions, GD2 remains a progressive disorder with a devastating prognosis that may benefit from new treatment approaches.
MeSH term(s)	Child, Preschool ; Cost of Illness ; Disease Management ; Disease Progression ; Female ; Gaucher Disease/pathology ; Humans ; Infant ; Male ; Retrospective Studies
Keywords	covid19
Language	English
Publishing date	2020-08-06
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Intramural
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0000000000010605
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Article ; Online: Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.

Hagege, Ermias / Grey, Richard J / Lopez, Grisel / Roshan Lal, Tamanna / Sidransky, Ellen / Tayebi, Nahid

American journal of medical genetics. Part A

2017 Volume 173, Issue 12, Page(s) 3211–3215

Abstract: Gaucher disease (GD) is a recessively inherited autosomal lysosomal storage disease, the most severe of which is type 2, an acute neuronopathic form. We report an affected infant who inherited one mutant allele, Arg257Gln (c.887G>A; p.Arg296Gln) from his ...

Abstract	Gaucher disease (GD) is a recessively inherited autosomal lysosomal storage disease, the most severe of which is type 2, an acute neuronopathic form. We report an affected infant who inherited one mutant allele, Arg257Gln (c.887G>A; p.Arg296Gln) from his father, while the second, Gly202Arg (c.721G>A; p.Gly241Arg) arose by either maternal germline mosaicism or as a de novo mutation. This is the first time mutation Gly202Arg has been reported to be inherited non-traditionally. This report is part of a growing literature suggesting that GD can be inherited via germline or de novo mutations, and emphasizes that it is critical for clinicians to consider such inheritance when making diagnostic decisions or providing genetic counseling.
MeSH term(s)	Alleles ; Gaucher Disease/diagnosis ; Gaucher Disease/genetics ; Glucosylceramidase/genetics ; Humans ; Infant, Newborn ; Male ; Mosaicism ; Mutation
Chemical Substances	Glucosylceramidase (EC 3.2.1.45)
Language	English
Publishing date	2017-11-01
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	1493479-6
ISSN	1552-4833 ; 1552-4825
ISSN (online)	1552-4833
ISSN	1552-4825
DOI	10.1002/ajmg.a.38487
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Five-parameter evaluation of dysphagia: A novel prognostic scale for assessing neurological decline in Gaucher disease type 2.

Seehra, Gurpreet / Solomon, Beth / Ryan, Emory / Steward, Alta M / Roshan Lal, Tamanna / Tanima, Yuichiro / Lopez, Grisel / Sidransky, Ellen

Molecular genetics and metabolism

2019 Volume 127, Issue 3, Page(s) 191–199

Abstract: Background: Gaucher disease type 2 (GD2) is defined by acute neurological decline, failure to thrive, and early demise. Currently, there is no clear standard for evaluating, staging, and counseling regarding neurological decline in GD2. Due to the high ... ...

Abstract	Background: Gaucher disease type 2 (GD2) is defined by acute neurological decline, failure to thrive, and early demise. Currently, there is no clear standard for evaluating, staging, and counseling regarding neurological decline in GD2. Due to the high prevalence of progressive dysphagia secondary to acute neurological involvement, we aimed to identify key components of swallow function which could serve as markers of disease progression in GD2. Methods: A post-hoc analysis of modified barium swallow studies was performed. Six parameters of swallowing were scored in a retrospective chart review of eleven infants with GD2. Mixed effects regression, principal component analysis (PCA), and a transition analysis were used to evaluate swallow function and model disease progression. Results: All patients exhibited impaired swallow function. There was no association between any of the swallow parameters and age, indicating non-linear disease progression. PCA and transition analysis identified five parameters capturing multiple dimensions of swallowing which defined two distinct disease states. Conclusion: A five-parameter swallow evaluation was sufficient to identify distinct states of GD2 and model prospective outcomes. This multi-dimensional evaluation could be a useful efficacy parameter for future therapeutic trials in GD2 and other neurodegenerative disorders of infancy.
MeSH term(s)	Deglutition ; Deglutition Disorders/diagnosis ; Deglutition Disorders/physiopathology ; Female ; Gaucher Disease/diagnosis ; Gaucher Disease/physiopathology ; Humans ; Infant ; Male ; Nervous System Diseases/diagnosis ; Nervous System Diseases/etiology ; Prognosis ; Prospective Studies ; Retrospective Studies
Language	English
Publishing date	2019-06-08
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1418518-0
ISSN	1096-7206 ; 1096-7192
ISSN (online)	1096-7206
ISSN	1096-7192
DOI	10.1016/j.ymgme.2019.06.002
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Article: The Natural History of Type 2 Gaucher Disease in the 21st Century: A Retrospective Study

Roshan Lal, Tamanna / Seehra, Gurpreet K / Steward, Alta M / Poffenberger, Chelsie / Ryan, Emory / Tayebi, Nahid / Lopez, Grisel / Sidransky, Ellen

Neurology

Abstract: OBJECTIVE: The purpose of the study is to gather natural history data to better understand the changing course of type 2 Gaucher disease (GD2) in order to guide future interventional protocols. METHODS: A structured interview was conducted with parents ... ...

Abstract	OBJECTIVE: The purpose of the study is to gather natural history data to better understand the changing course of type 2 Gaucher disease (GD2) in order to guide future interventional protocols. METHODS: A structured interview was conducted with parents of living or deceased patients with GD2. Retrospective information obtained included disease presentation, progression, medical and surgical history, medications, family history, management, complications, and cause of death, as well as the impact of disease on families. RESULTS: Data from 23 patients were analyzed (20 deceased and 3 living), showing a mean age at death of 19.2 months, ranging from 3 - 55 months. Fourteen patients were treated with enzyme replacement therapy (ERT), 2 were treated with substrate reduction therapy (SRT) and 3 underwent bone marrow transplantation. Five patients received Ambroxol and one was on N-acetylcysteine, both considered experimental treatments. Fifteen patients had gastrostomy tubes (G-Tube) placed, while 10 underwent tracheostomies. Neurological disease manifestations included choking episodes, myoclonic jerks, autonomic dysfunction, apnea, seizures and diminished blinking, all of which worsened as disease progressed. CONCLUSIONS: Current available therapies appear to prolong life but do not alter neurological manifestations. Despite aggressive therapeutic interventions, GD2 still remains a progressive disorder with a devastating prognosis, that may benefit from new treatment approaches.
Keywords	covid19
Publisher	WHO
Document type	Article
Note	WHO #Covidence: #32764102
Database	COVID19

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