LIVIVO - Search results -

Search results

Result 1 - 10 of total 41

Search options

Article ; Online: Whole genome sequencing helps pinpoint a genetic diagnosis for patients.

Schon, Katherine

2021 Volume 375, Page(s) n2680

MeSH term(s)	Diagnosis, Differential ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/genetics ; Genetic Testing/methods ; Humans ; State Medicine ; United Kingdom ; Whole Genome Sequencing
Language	English
Publishing date	2021-11-03
Publishing country	England
Document type	Journal Article
ZDB-ID	1362901-3
ISSN	1756-1833 ; 0959-8154 ; 0959-8146 ; 0959-8138 ; 0959-535X ; 1759-2151
ISSN (online)	1756-1833
ISSN	0959-8154 ; 0959-8146 ; 0959-8138 ; 0959-535X ; 1759-2151
DOI	10.1136/bmj.n2680
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Ua VI Zs.10: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Whole-genome sequencing for mitochondrial disorders identifies unexpected mimics.

Schon, Katherine R / Chinnery, Patrick F

Practical neurology

2022 Volume 23, Issue 1, Page(s) 2–3

MeSH term(s)	Humans ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/genetics ; Whole Genome Sequencing ; Sequence Analysis, DNA
Language	English
Publishing date	2022-10-17
Publishing country	England
Document type	Editorial
ZDB-ID	2170881-2
ISSN	1474-7766 ; 1474-7758
ISSN (online)	1474-7766
ISSN	1474-7758
DOI	10.1136/pn-2022-003570
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 6001: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Diaphyseal Proximal Phalangeal Shortening Osteotomy for Correction of Hammertoe Deformity: Operative Technique and Radiological Outcomes.

Bastías, Gonzalo F / Sage, Katherine / Orapin, Jakrapong / Schon, Lew

Foot & ankle specialist

2021 Volume 17, Issue 1, Page(s) 29–38

Abstract: Background: Correction of hammertoe deformities at the proximal interphalangeal (PIP) joint results in an inherent loss of motion that can be a concern for active patients who want to maintain toe function and grip strength. Diaphyseal proximal ... ...

Abstract	Background: Correction of hammertoe deformities at the proximal interphalangeal (PIP) joint results in an inherent loss of motion that can be a concern for active patients who want to maintain toe function and grip strength. Diaphyseal proximal phalangeal shortening osteotomy (DPPSO) is a joint-sparing procedure resecting a cylindrical portion of the proximal phalanx on the middiaphysis. Patients/methods: This was a retrospective review including patients treated using DPPSO with at least a 1-year follow-up. Demographic, comorbidity, and Visual Analogue Scale (VAS) scores and complication data were obtained. Radiological assessment included union status and alignment. Medial frontal anatomical (mFAA), frontal proximal interphalangeal (mFIA), plantar lateral anatomical (pLAA), and medial and plantar lateral interphalangeal angles (pLIA) were measured. Results: A total of 31 patients (45 toes) were included, with a mean age of 59 years (range: 24-72) and follow-up of 35 months (range: 12-60; mean preoperative VAS score was 4.9 ± 1.72 improving to 1.62 ± 2.28; Conclusions: DPPSO provides adequate pain relief and corrects the PIP joint in the lateral plane without significantly affecting the coronal plane or the anatomical axis of the phalanx in the frontal and lateral views, nor producing secondary deformities. DPPSO is a safe, effective, and reproducible technique with a low complication rate. Levels of evidence: Level IV: Retrospective case series
MeSH term(s)	Humans ; Middle Aged ; Retrospective Studies ; Hammer Toe Syndrome/diagnostic imaging ; Hammer Toe Syndrome/surgery ; Osteotomy/methods ; Toes ; Radiography ; Treatment Outcome
Language	English
Publishing date	2021-06-18
Publishing country	United States
Document type	Journal Article
ZDB-ID	2488579-4
ISSN	1938-7636 ; 1938-6400
ISSN (online)	1938-7636
ISSN	1938-6400
DOI	10.1177/19386400211012800
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 7037: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Multisystem pathology in McLeod syndrome.

Schon, Katherine R / O'Donovan, Dominic G / Briggs, Mayen / Rowe, James B / Wijesekera, Lokesh / Chinnery, Patrick F / van den Ameele, Jelle

Neuropathology : official journal of the Japanese Society of Neuropathology

2023 Volume 44, Issue 2, Page(s) 109–114

Abstract: We present a comprehensive characterization of clinical, neuropathological, and multisystem features of a man with genetically confirmed McLeod neuroacanthocytosis syndrome, including video and autopsy findings. A 61-year-old man presented with a ... ...

Abstract	We present a comprehensive characterization of clinical, neuropathological, and multisystem features of a man with genetically confirmed McLeod neuroacanthocytosis syndrome, including video and autopsy findings. A 61-year-old man presented with a movement disorder and behavioral change. Examination showed dystonic choreiform movements in all four limbs, reduced deep-tendon reflexes, and wide-based gait. He had oromandibular dyskinesia causing severe dysphagia. Elevated serum creatinine kinase (CK) was first noted in his thirties, but investigations, including muscle biopsy at that time, were inconclusive. Brain magnetic resonance imaging showed white matter volume loss, atrophic basal ganglia, and chronic small vessel ischemia. Despite raised CK, electromyography did not show myopathic changes. Exome gene panel testing was negative, but targeted genetic analysis revealed a hemizygous pathogenic variant in the XK gene c.895C > T p.(Gln299Ter), consistent with a diagnosis of McLeod syndrome. The patient died of sepsis, and autopsy showed astrocytic gliosis and atrophy of the basal ganglia, diffuse iron deposition in the putamen, and mild Alzheimer's pathology. Muscle pathology was indicative of mild chronic neurogenic atrophy without overt myopathic features. He had non-specific cardiomyopathy and splenomegaly. McLeod syndrome is an ultra-rare neurodegenerative disorder caused by X-linked recessive mutations in the XK gene. Diagnosis has management implications since patients are at risk of severe transfusion reactions and cardiac complications. When a clinical diagnosis is suspected, candidate genes should be interrogated rather than solely relying on exome panels.
MeSH term(s)	Male ; Humans ; Middle Aged ; Neuroacanthocytosis/genetics ; Neuroacanthocytosis/diagnosis ; Neuroacanthocytosis/pathology ; Muscular Diseases/pathology ; Basal Ganglia/pathology ; Atrophy/pathology
Language	English
Publishing date	2023-07-12
Publishing country	Australia
Document type	Case Reports
ZDB-ID	1483794-8
ISSN	1440-1789 ; 0919-6544
ISSN (online)	1440-1789
ISSN	0919-6544
DOI	10.1111/neup.12935
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 5086: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Clinical implications of germline mutations in breast cancer: TP53.

Schon, Katherine / Tischkowitz, Marc

Breast cancer research and treatment

2017 Volume 167, Issue 2, Page(s) 417–423

Abstract: Purpose: This review describes the prevalence of germline TP53 mutations, the risk of breast cancer and other cancers in mutation carriers and management implications for women with breast cancer and unaffected women.: Methods: Literature review of ... ...

Abstract	Purpose: This review describes the prevalence of germline TP53 mutations, the risk of breast cancer and other cancers in mutation carriers and management implications for women with breast cancer and unaffected women. Methods: Literature review of English language papers available through PubMed. Results: Women who carry germline mutations in the TP53 gene have a very high risk of breast cancer of up to 85% by age 60 years. Most of these breast cancers are early onset with a median age at diagnosis of 34 years. Approximately 5-8% of women presenting with breast cancer under 30 years old have a germline TP53 gene mutation. Breast cancers in women with TP53 mutations are more likely to be hormone receptor positive and/or Her2 positive. Mastectomy is recommended over lumpectomy in TP53 mutation carriers who have breast cancer so that adjuvant breast radiotherapy can be avoided. Risk-reducing surgery should be considered due to the high contralateral breast cancer risk. Mutation carriers are at high risk of various childhood and adult-onset cancers with a very lifetime risk of malignancy, the commonest malignancies being breast cancer and soft tissue sarcoma. In unaffected female mutation carriers, MRI breast screening or risk-reducing surgery is recommended. The optimal surveillance for other cancers is currently unclear and should ideally be performed as part of a clinical trial. Conclusions: Identifying a TP53 mutation in a gene panel test is a challenging result for the patient and clinician due to the high risk of second primaries and the lack of consensus about surveillance.
MeSH term(s)	Breast Neoplasms/epidemiology ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Breast Neoplasms/surgery ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Germ-Line Mutation/genetics ; Humans ; Risk Factors ; Tumor Suppressor Protein p53/genetics
Chemical Substances	TP53 protein, human ; Tumor Suppressor Protein p53
Language	English
Publishing date	2017-10-16
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	604563-7
ISSN	1573-7217 ; 0167-6806
ISSN (online)	1573-7217
ISSN	0167-6806
DOI	10.1007/s10549-017-4531-y
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 1655: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes.

Wei, Wei / Schon, Katherine R / Elgar, Greg / Orioli, Andrea / Tanguy, Melanie / Giess, Adam / Tischkowitz, Marc / Caulfield, Mark J / Chinnery, Patrick F

Nature

2022 Volume 611, Issue 7934, Page(s) 105–114

Abstract: DNA transfer from cytoplasmic organelles to the cell nucleus is a legacy of the endosymbiotic event-the majority of nuclear-mitochondrial segments (NUMTs) are thought to be ancient, preceding human ... ...

Abstract	DNA transfer from cytoplasmic organelles to the cell nucleus is a legacy of the endosymbiotic event-the majority of nuclear-mitochondrial segments (NUMTs) are thought to be ancient, preceding human speciation
MeSH term(s)	Humans ; Cell Nucleus/genetics ; Cell Nucleus/metabolism ; DNA, Mitochondrial/genetics ; DNA, Mitochondrial/metabolism ; Genome, Human/genetics ; Mitochondria/genetics ; Phylogeny ; Sequence Analysis, DNA ; Mutation ; Liposarcoma, Myxoid/genetics ; Neoplasms/genetics ; Germ-Line Mutation ; DNA Breaks, Double-Stranded ; DNA Repair
Chemical Substances	DNA, Mitochondrial ; PRDM9 protein, human (EC 2.1.1.43)
Language	English
Publishing date	2022-10-05
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	120714-3
ISSN	1476-4687 ; 0028-0836
ISSN (online)	1476-4687
ISSN	0028-0836
DOI	10.1038/s41586-022-05288-7
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 26: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MG 9: Show issues
Zs.MO 244: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Case report: Mutations in

Major, Toby Charles / Arany, Eszter Sara / Schon, Katherine / Simo, Magdolna / Karcagi, Veronika / van den Ameele, Jelle / Yu Wai Man, Patrick / Chinnery, Patrick F / Olimpio, Catarina / Horvath, Rita

Frontiers in neurology

2023 Volume 14, Page(s) 1292320

Abstract: Background: Leber Hereditary Optic Neuropathy (LHON) is the most common inherited mitochondrial disease characterized by bilateral, painless, subacute visual loss with a peak age of onset in the second to third decade. Historically, LHON was thought to ... ...

Abstract	Background: Leber Hereditary Optic Neuropathy (LHON) is the most common inherited mitochondrial disease characterized by bilateral, painless, subacute visual loss with a peak age of onset in the second to third decade. Historically, LHON was thought to be exclusively maternally inherited due to mutations in mitochondrial DNA (mtDNA); however, recent studies have identified an autosomal recessive form of LHON (arLHON) caused by point mutations in the nuclear gene, Case presentations: In this study, we report the cases of three Eastern European individuals presenting with bilateral painless visual loss, one of whom was also exhibiting motor symptoms. After a several-year-long diagnostic journey, all three patients were found to carry the homozygous c.152A>G (p.Tyr51Cys) mutation in Conclusion: This finding adds to the growing cohort of patients with arLHON and demonstrates the importance of
Language	English
Publishing date	2023-12-01
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2564214-5
ISSN	1664-2295
ISSN	1664-2295
DOI	10.3389/fneur.2023.1292320
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article: Mitochondrial Diseases: A Diagnostic Revolution.

Schon, Katherine R / Ratnaike, Thiloka / van den Ameele, Jelle / Horvath, Rita / Chinnery, Patrick F

Trends in genetics : TIG

2020 Volume 36, Issue 9, Page(s) 702–717

Abstract: Mitochondrial disorders have emerged as a common cause of inherited disease, but are traditionally viewed as being difficult to diagnose clinically, and even more difficult to comprehensively characterize at the molecular level. However, new sequencing ... ...

Abstract	Mitochondrial disorders have emerged as a common cause of inherited disease, but are traditionally viewed as being difficult to diagnose clinically, and even more difficult to comprehensively characterize at the molecular level. However, new sequencing approaches, particularly whole-genome sequencing (WGS), have dramatically changed the landscape. The combined analysis of nuclear and mitochondrial DNA (mtDNA) allows rapid diagnosis for the vast majority of patients, but new challenges have emerged. We review recent discoveries that will benefit patients and families, and highlight emerging questions that remain to be resolved.
MeSH term(s)	DNA, Mitochondrial/analysis ; DNA, Mitochondrial/genetics ; Genome, Mitochondrial ; Humans ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/genetics ; Mutation ; Whole Genome Sequencing/methods
Chemical Substances	DNA, Mitochondrial
Language	English
Publishing date	2020-07-13
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	619240-3
ISSN	1362-4555 ; 0168-9525 ; 0168-9479
ISSN (online)	1362-4555
ISSN	0168-9525 ; 0168-9479
DOI	10.1016/j.tig.2020.06.009
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 2272: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank.

Yonova-Doing, Ekaterina / Calabrese, Claudia / Gomez-Duran, Aurora / Schon, Katherine / Wei, Wei / Karthikeyan, Savita / Chinnery, Patrick F / Howson, Joanna M M

Nature genetics

2021 Volume 53, Issue 7, Page(s) 982–993

Abstract: Mitochondrial DNA (mtDNA) variation in common diseases has been underexplored, partly due to a lack of genotype calling and quality-control procedures. Developing an at-scale workflow for mtDNA variant analyses, we show correlations between nuclear and ... ...

Abstract	Mitochondrial DNA (mtDNA) variation in common diseases has been underexplored, partly due to a lack of genotype calling and quality-control procedures. Developing an at-scale workflow for mtDNA variant analyses, we show correlations between nuclear and mitochondrial genomic structures within subpopulations of Great Britain and establish a UK Biobank reference atlas of mtDNA-phenotype associations. A total of 260 mtDNA-phenotype associations were new (P < 1 × 10
MeSH term(s)	Alleles ; Biological Specimen Banks ; DNA, Mitochondrial ; Genes, Mitochondrial ; Genetic Association Studies ; Genotype ; Humans ; Mitochondria/genetics ; Phenotype ; United Kingdom
Chemical Substances	DNA, Mitochondrial
Language	English
Publishing date	2021-05-17
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1108734-1
ISSN	1546-1718 ; 1061-4036
ISSN (online)	1546-1718
ISSN	1061-4036
DOI	10.1038/s41588-021-00868-1
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 3613: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MG 46: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: White Matter Hyperintensities and Cerebral Microbleeds in Ataxia-Telangiectasia.

Tiet, May Yung / Nannoni, Stefania / Scoffings, Daniel / Schon, Katherine / Horvath, Rita / Markus, Hugh Stephen / Hensiek, Anke Erma

Neurology. Genetics

2021 Volume 7, Issue 6, Page(s) e640

Abstract: Background and objectives: To systematically assess the occurrence of cerebral microbleeds (CMBs) and white matter hyperintensities (WMHs) in the largest published cohort of adults with ataxia-telangiectasia (AT).: Methods: We assessed 38 adults with ...

Abstract	Background and objectives: To systematically assess the occurrence of cerebral microbleeds (CMBs) and white matter hyperintensities (WMHs) in the largest published cohort of adults with ataxia-telangiectasia (AT). Methods: We assessed 38 adults with AT (age range 18-55 years) including 15 classic and 23 variant AT, evaluated by two independent assessors. WMHs were quantified on T2-fluid attenuated inversion recovery images using the semiquantitative modified Scheltens and Fazekas scales and CMB on susceptibility-weighted imaging and T2-weighted gradient echo sequences using the Brain Observer MicroBleed Scale. Results:* CMBs were more frequently found in classic AT compared with variant AT (66.7% vs 5.9%) predominantly in cortical and subcortical regions. WMHs were seen in 25 (73.5%) probands and CMBs in 9 (31.0%). The burden of WMHs increased with age, and WMHs were focused in periventricular and deep white matter regions. WMHs were more frequently seen in variant than classic AT. Discussion: This cohort study confirms that WMHs and CMBs are a frequent finding in AT. Further longitudinal studies are required to understand how WMHs and CMBs relate to the neurodegeneration that occurs in AT and the predisposition to cerebral hemorrhage.
Language	English
Publishing date	2021-11-30
Publishing country	United States
Document type	Journal Article
ZDB-ID	2818607-2
ISSN	2376-7839
ISSN	2376-7839
DOI	10.1212/NXG.0000000000000640
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

To top

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito