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Akademický článek

Clinical, metabolic, and molecular genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in 30 dogs

Autor: J. A. Jaffey, N. S. Reading, O. Abdulmalik, R. Kreisler, G. Bullock, A. Wiest, N. A. Villani, T. Mhlanga-Mutangadura, G. S. Johnson, L. A. Cohn, N. Isaza, J. W. Harvey, U. Giger

Publikováno v: Scientific Reports, Vol 10, Iss 1, Pp 1-9 (2020)

Abstract Genotype–phenotype correlations of humans and dogs with hereditary methemoglobinemia are not yet well characterized. We determined total hemoglobin and methemoglobin (MetHb) concentrations, cytochrome b5 reductase (CYB5R) enzyme activities

Externí odkaz: https://doaj.org/article/7cae2504745c40369b98997a367c89ae

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Paediatric Sudden Sensorineural Hearing Loss: Pooled Analysis and Systematic Review

Autor: Robert Nash, Andrew Hall, Jacob C S Reading

Publikováno v: Journal of International Advanced Otology, Vol 17, Iss 1, Pp 64-71 (2021)
J Int Adv Otol

Sudden sensorineural hearing loss (SSNHL) is defined as hearing loss of ≥30 dB in one or both ears, developing within 3 days, affecting ≥3 contiguous frequencies. It is rare in children, but if untreated can cause significant morbidity. During th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb1b055c8625ad6fada0fd40331d526f
https://doi.org/10.5152/iao.2020.8902

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δ-Globin Chain Variants Associated with Decreased Hb A2 Levels: A National Reference Laboratory Experience

Autor: Archana M. Agarwal, Noel S. Reading, Anton V. Rets

Publikováno v: Hemoglobin. 44:438-441

High prevalence of hemoglobin (Hb) disorders mandates national programs for screening and genetic counseling in many countries. Increased Hb A2 levels are commonly associated with β-thalassemias, h...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::955c501a27aec13933b35bed6945ab02
https://doi.org/10.1080/03630269.2020.1831531

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Clinical, metabolic, and molecular genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in 30 dogs

Autor: Gary S. Johnson, L. A. Cohn, A. Wiest, N. S. Reading, Garrett Bullock, N. A. Villani, Urs Giger, Rachael E Kreisler, Osheiza Abdulmalik, Jared A. Jaffey, N. Isaza, J. W. Harvey, Tendai Mhlanga-Mutangadura

Publikováno v: Scientific Reports, Vol 10, Iss 1, Pp 1-9 (2020)

Genotype–phenotype correlations of humans and dogs with hereditary methemoglobinemia are not yet well characterized. We determined total hemoglobin and methemoglobin (MetHb) concentrations, cytochrome b5 reductase (CYB5R) enzyme activities, genotyp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::930b1f90aa6b59db9ccbbc8685510c99
https://doi.org/10.1038/s41598-020-78391-2

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Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias

Autor: Archana M. Agarwal, Robert D. Christensen, Nikhil A. Sangle, Josef T. Prchal, Jay Patel, Sherrie L. Perkins, Hassan M. Yaish, Noel S. Reading, Mohamed E. Salama, Roberto Nussenzveig

Publikováno v: British Journal of Haematology. 174:806-814

Hereditary haemolytic anaemias are genetically and phenotypically heterogeneous disorders characterized by increased red cell destruction, with consequences ranging from innocuous to severe life-threatening anaemia. Diagnostic laboratories endeavour

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::754f9aa3784255932cbc00e4f351fbf4
https://doi.org/10.1111/bjh.14131

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National G6PD neonatal screening program in Gaza Strip of Palestine: rationale, challenges and recommendations

Autor: Mustafa S. Al-Kahlout, Noel S. Reading, Mahmoud M. Sirdah

Publikováno v: Clinical Genetics. 90:191-198

Congenital genetic disorders affecting neonates or young children can have serious clinical consequences if undiagnosed and left untreated. Early detection and an accurate diagnosis are, therefore, of major importance for preventing negative patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8be3d0e845b19a84adc5e1279162cbaf
https://doi.org/10.1111/cge.12786

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Fourth branchial pouch anomaly presenting as a neonatal neck lump

Autor: Robert Nash, Jacob C S Reading, Benjamin Hartley

Publikováno v: BMJ Case Rep

A 1-week-old female infant presented with a transilluminating neck lump that increased in size with crying. The presumptive diagnosis was lymphatic malformation, but imaging raised the possibility of an abscess or necrotic tumour. A biopsy revealed a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bf501fce5c7eb16c3028c375348b304
https://doi.org/10.1136/bcr-2020-237551

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454 Cardiovascular Events and Deaths in High Cardiovascular Risk Patients With Multiple Events

Autor: Alanna M. Chamberlain, S. Cohen, S. Reading, E. Bjorkenstam, Jill M. Killian, P. Dluzniewsk, Susan A. Weston

Publikováno v: Heart, Lung and Circulation. 29:S241

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::99c7f5b880c5e774362964be28377dce
https://doi.org/10.1016/j.hlc.2020.09.461

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Molecular characterization of the yeast gene HSP60

Autor: Donald S. Reading

The hsp60 protein isolated from the protozoan Tetrahymena thermophila is induced in response to heat stress and is a member of an immunologically conserved family represented in Escherichia coli and in mitochondria of plants and animals (McMullin and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e577b3144613d204ce5cbc153b9f503b
https://doi.org/10.31274/rtd-180813-9408

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