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Thiamine-responsive megaloblastic anemia syndrome

Definitions, 2020
هديكچ همدقم : يت هب هدنهد خساپ كيتسلابولاگم يمنآ مردنس رد نيما DIDMOAD اي Wolfram يم ثرا هب بولغم لاموزوتا تروص هب دسر . يب تبايد اب كيتسلابورديس يمنآ و كيتسلابولاگم يمنآ مردنس نيا رد يـهارمه يسـح يركو ييانيب بصع يفورتآ ،نيريش تبايد ،هزم دراد .

semanticscholar   +1 more source

Idiopathic autoimmune hemolytic anemia along with concomitant vitamin B12 deficiency in an adolescent girl: A rare occurrence

Journal of Family Medicine and Primary Care, 2020
Vitamin B12 deficiency is seen in countries like India mainly because of predominantly vegetarian diet and is a significant health problem. Patients present with various neurological and hematological manifestations of megaloblastic anemia.
Kapil Bhalla, Nisha Verma, Sanjiv Nanda, Ashish Gupta, Shuchi Mehra   +4 more
doaj   +1 more source

Novel WDR62 and MTR Variants in a Patient With Autosomal Recessive Primary Microcephaly-2 With Polymicrogyria and Homocystinuria-Megaloblastic Anemia [PDF]

Disease and Diagnosis, 2022
Background: Autosomal recessive primary microcephaly-2 (MCPH2) is a rare genetic disorder with clinical and genetic heterogeneity. This study aimed to perform high-throughput whole-exome sequencing (WES) to facilitate the diagnosis of the genetic ...
Tahereh Dianat, Dor Mohammad Kordi Tamandani, Maryam Najafi, Ali Khajeh   +3 more
doaj   +1 more source

Megaloblastic anemia-related iron overload and erythroid regulators: a case report

Journal of Medical Case Reports, 2021
Background In ineffective erythropoiesis, hepcidin synthesis is suppressed by erythroid regulators, namely erythroferrone and growth differentiation factor-15.
Nicolas Vallet, Jean-Baptiste Delaye, Martine Ropert, Amélie Foucault, Noémie Ravalet, Sophie Deriaz, Thomas Chalopin, Hélène Blasco, François Maillot, Olivier Hérault, Emmanuel Gyan   +10 more
doaj   +1 more source

A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption [PDF]

, 2009
Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder which is characterized by impaired intestinal folate malabsorption and impaired folate transport into the central nervous system.
Cole, Trevor, Kurian, Manju A., Maher, Eamonn R., Meyer, Esther, Pasha, Shanaz, Trembath, Richard C.   +5 more
core   +2 more sources

Metformin Treatment: A Potential Cause of Megaloblastic Anemia in Patients with Type 2 Diabetes Mellitus

Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2020
Introduction Vitamin B12 (cobalamin) deficiency is a frequent cause of megaloblastic anemia, manifested through various symptoms. Screening for this deficiency can be justified in case of patients with one or more risk factors present from the following:
O. Albai, B. Timar, D. Păun, A. Sima, D. Roman, R. Timar   +5 more
semanticscholar   +1 more source

Importance of Immediate Thiamine Therapy in Children with Suspected Thiamine-Responsive Megaloblastic Anemia—Report on Two Patients Carrying a Novel SLC19A2 Gene Mutation

Journal of Pediatric Genetics, 2020
Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive disorder characterized by the development of megaloblastic anemia, diabetes mellitus, and sensorineural deafness.
Anita Krnić Nevena Špehar Uroić, D. Milenkovic, E. De Franco, E. Bilic, Natasa Rojnic Putarek, N. Krnic   +5 more
semanticscholar   +1 more source

An infantile case of hereditary folate malabsorption with sudden development of pulmonary hemorrhage: a case report

Journal of Medical Case Reports, 2022
Background Hereditary folate malabsorption—a rare disorder caused by impairment of the folate transporter—can develop into severe folate deficiency manifesting as megaloblastic anemia and occasionally thrombocytopenia.
Yukari Sakurai, Naohisa Toriumi, Takeo Sarashina, Toru Ishioka, Marino Nagata, Hiroya Kobayashi, Hiroshi Azuma   +6 more
doaj   +1 more source

Megaloblastic anemia in Japan [PDF]

, 1978
Since 1903, 744 cases of megaloblastic anemia have been reported in Japan: 490 cases of pernicious anemia; 95 cases associated with pregnancy; 66 cases after gastrectomy; 22 cases of megaloblastic anemia of infants; 21 cases of folic acid deficiency ...
Taguchi, Hirokuni
core   +1 more source

Earliest Porotic Hyperostosis on a 1.5-Million-year-old Hominin, olduvai gorge, Tanzania. [PDF]

, 2012
Meat-eating was an important factor affecting early hominin brain expansion, social organization and geographic movement. Stone tool butchery marks on ungulate fossils in several African archaeological assemblages demonstrate a significant level of ...
Agness Gidna, Audax Mabulla, Carmen Arriaza, Charles Musiba, David Uribelarrea, Doris Barboni, Enrique Baquedano, Fernando Diez-Martín, Fred H. Smith, Gail M. Ashley, Gonzalo Trancho, Henry T. Bunn, José Yravedra, Manuel Domínguez-Rodrigo, Manuel Santonja, María del Sol Martínez-Ávila, Rebeca Barba, Travis Rayne Pickering   +17 more
core   +5 more sources