Results 41 to 50 of about 290,691 (220)

Monogenic diabetes syndromes: Locus‐specific databases for Alström, Wolfram, and Thiamine‐responsive megaloblastic anemia

Human Mutation, 2017
We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations.
D. Astuti, A. Sabir, P. Fulton, M. Zatyka, Denise Williams, C. Hardy, G. Milan, F. Favaretto, P. Yu-Wai-Man, J. Rohayem, M. López de Heredia, T. Hershey, L. Tranebjaerg, Jian-hua Chen, A. Chaussenot, Virginia Nunes, B. Marshall, Susan McAfferty, V. Tillmann, P. Maffei, V. Paquis-Flucklinger, T. Geberhiwot, W. Młynarski, K. Parkinson, V. Picard, Gema Esteban Bueno, R. Dias, Amy Arnold, Caitlin Richens, R. Paisey, F. Urano, R. Semple, R. Sinnott, T. Barrett   +33 more
semanticscholar   +1 more source

The Intake of Junk Food as an Etiological Factor of Megaloblastic Anemia in Patients visiting Mayo Hospital, Lahore

Journal of University College of Medicine and Dentistry, 2023
Objective: The study was performed to determine role of junk food intake in the development of megaloblastic anemia. Methodology: It was a clinical based cross-sectional study conducted at Mayo Hospital Lahore in collaboration with Pathology ...
Zunairah Mughal, Dr, Hira Babar, Raana Akhtar, Dr, Ambareen Hamid, Dr, Sobia Ashraf, Dr, Samina Qamar, Dr   +5 more
doaj   +1 more source

Utility of serum lactate dehydrogenase in the diagnosis of megaloblastic anemia

International Journal of Research in Medical Sciences, 2018
Background: Megaloblastc anemia corresponds to severe macrocytic anemia with hypersegmented neutrophils and very high serum Lactate Dehydrogenase (LDH). The present study was undertaken to evaluate the utility of serum LDH and chloroform inhibited serum ...
A. Gaikwad, D. S. Jadhav
semanticscholar   +1 more source

Understanding erythroid physiology and pathology in humanized mice: A closer look

British Journal of Haematology, Volume 206, Issue 5, Page 1272-1284, May 2025.
Erythropoiesis, the formation of red blood cells (RBCs) from haematopoietic stem cells (HSCs), is vital for understanding conditions like anaemia and haemoglobinopathies. However, studying this process in vivo is challenging due to the lack of accurate models.
Lu Lu, Chenfei Liu, Lezong Chen, Xumiao Zhang, Yinglin Su, Zhenzhen Chou, Yang Liang, Yuanbin Song   +7 more
wiley   +1 more source

Megaloblastic Anemia in Bardet-Biedl Syndrome: A Rare Case Report

Clinical Medicine Insights: Case Reports, 2023
Background: Bardet-Biedl syndrome (BBS) also known as Laurence-Moon-Bardet-Biedl syndrome one of the rarely reported genetic disorder characterized by an intellectual disability, limb, kidney abnormalities, obesity, and Rod-cone dystrophy.
Subtain Hassan, Qaisar Ali Khan, Priyadharshini Saravanan, Sumaira Iram, Samia Rohail, Naod F Belay, Muhammad Afzal, Faiza Amatul Hadi, Harshawardhan Pande   +8 more
doaj   +1 more source

Vitamin B12 Levels Association with Functional and Structural Biomarkers of Central Nervous System Injury in Older Adults

Annals of Neurology, Volume 97, Issue 6, Page 1190-1204, June 2025.
At low levels of B12, specifically when bound to transcobalamin for cellular uptake, evidence of slower conductivity in the brain could point toward impaired myelin. At high levels of B12, specifically when bound to the biologically inert transport protein haptocorrin, biomarkers of neurodegeneration appear in the serum, indicating neuroaxonal injury ...
Alexandra Beaudry‐Richard, Ahmed Abdelhak, Rowan Saloner, Simone Sacco, Shivany C. Montes, Frederike C. Oertel, Christian Cordano, Nour Jabassini, Kirtana Ananth, Apraham Gomez, Azeen Keihani, Makenna Chapman, Sree Javvadi, Shikha Saha, Adam Staffaroni, Christopher Songster, Martin Warren, John W. Boscardin, Joel Kramer, Bruce Miller, Joshua W. Miller, Ralph Green, Ari J. Green   +22 more
wiley   +1 more source

The Impact of Metformin on Weight and Waist Circumference in Patients Treated With Clozapine: A One‐Year Retrospective Cohort Study

Acta Psychiatrica Scandinavica, Volume 151, Issue 6, Page 719-730, June 2025.
ABSTRACT Background Metformin shows potential in combating clozapine‐induced weight gain (CIWG). However, current evidence for its use remains limited. Through an audit we determined the prevalence of metformin use among clozapine‐treated patients and its impact on weight and waist circumference (WC).
Bee Leng Per, Susan Loeser, Suzanne Edwards, Wen Siew Lee, Lisa R. Wilton, Scott Richard Clark   +5 more
wiley   +1 more source

Reversible Hyperpigmentation: A Diagnostic Dilemma

Asian Journal of Medical Sciences, 2021
Vitamin B12 deficiency presents as megaloblastic anemia with neurological, skin and other clinical manifestations. We present here an interesting case of anemia presenting with generalized weakness and nonspecific symptoms in a female who is a vegetarian.
Somnath Maitra , Kaushik Hazra, Biswaroop Mukherjee   +2 more
doaj   +1 more source

Congenital Familial Megaloblastic Anemia [PDF]

Blood, 1971
Abstract Two sisters with a previously unreported megaloblastic anemia unassociated with a deficiency of either folic acid or vitamin B12 are described. Deficiencies of these vitamins were ruled out by standard studies. All other previously reported forms of megaloblastic anemia not secondary to a vitamin deficiency, such as orotic ...
Carol B. Hyman, Beatrice C. Lampkin, Beatrice C. Lampkin, Denman Hammond, Allan Pyesmany, Allan Pyesmany   +5 more
openaire   +3 more sources

Concomitant use of metformin and proton pump inhibitors increases vitamin B12 deficiency risk in type 2 diabetes

Journal of Diabetes Investigation, Volume 16, Issue 6, Page 1020-1027, June 2025.
The concomitant use of metformin and PPI was significantly associated with an increased risk of vitamin B12 deficiency in patients with type 2 diabetes. ABSTRACT Introduction Vitamin B12 deficiency is one of the adverse drug reactions of metformin and proton pump inhibitors (PPIs).
Choungwon Jung, Soyoung Park, Hyunah Kim
wiley   +1 more source