keyword
https://read.qxmd.com/read/38488435/identification-of-novel-pathogenic-variants-of-cubn-in-patients-with-isolated-proteinuria
#1
JOURNAL ARTICLE
Huihui Yang, Lanfen He, Hongjian Gong, Chunhui Wan, Juanjuan Ding, Panli Liao, Xiaowen Wang
BACKGROUND: Although proteinuria is long recognized as an independent risk factor for progressive chronic kidney diseases, not all forms of proteinuria are detrimental to kidney function, one of which is isolated proteinuria caused by cubilin (CUBN)-specific mutations. CUBN encodes an endocytic receptor, initially found to be responsible for the Imerslund-Gräsbeck syndrome (IGS; OMIM #261100) characterized by a combined phenotype of megaloblastic anemia and proteinuria. METHODS: After analyzing their clinical and pathological characterizations, next-generation sequencing for renal disease genes or whole-exome sequencing (WES) was performed on four patients with non-progressive isolated proteinuria...
March 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38465131/tropical-sprue-a-rare-cause-of-malabsorption-syndrome
#2
Catarina Costa, Francisca Bartilotti Matos, Diogo Carvalho Sá, João Neves Maia
Chronic diarrhea is a common disorder in tropical regions, affecting residents, visitors, and even expatriates. It may stem from a myriad of infectious, inflammatory, and even malignant causes. In patients in whom no etiology has been found, tropical sprue (TS) is an important diagnosis to consider. We report the case of a 60-year-old man originally from Guatemala, presenting with chronic diarrhea and megaloblastic anemia due to severe vitamin B12 deficiency. Biopsies of the small bowel revealed partial villous atrophy and inflammatory infiltrate with the participation of eosinophils...
February 2024: Curēus
https://read.qxmd.com/read/38465050/hematological-indices-for-identifying-adverse-outcomes-in-children-admitted-to-pediatric-icus
#3
JOURNAL ARTICLE
Sivakumar Mahalingam, Vikram Bhaskar, Prerna Batra, Pooja Dewan, Priyanka Gogoi
BACKGROUND: The pediatric ICU (PICU) is a specialized area where critically sick children are managed. The mortality rates in PICUs are higher in developing countries as compared to developed nations. Many of these deaths could be prevented if very sick children were identified soon after they arrived at the health facility. Hematological indices like platelet lymphocyte ratio (PLR) and neutrophil-lymphocyte ratio (NLR) have been frequently used in adults as indicators of mortality...
February 2024: Curēus
https://read.qxmd.com/read/38448889/severe-megaloblastic-anemia-in-a-patient-with-advanced-lung-adenocarcinoma-during-treatment-with-erlotinib-a-case-report-and-literature-review
#4
JOURNAL ARTICLE
Xin Yan, Jingxian Kong, Jiacheng Wang, Caixia Wang, Hongchang Shen
BACKGROUND: Erlotinib is a first-generation, tyrosine kinase inhibitor of the epidermal growth factor receptor (EGFR-TKI) used for the treatment patients with NSCLC. Erlotinib is considered as a safe and effective treatment option, with generally good tolerance. Diarrhea and rash are the most common side effects, and more rare side effects appear in long-term real-world applications. Severe erlotinib related megaloblastic anemia is rare and remains unreported. This is the first case report of severe megaloblastic anemia in a patient with advanced lung adenocarcinoma with an EGFR L858R mutation treated with erlotinib...
March 6, 2024: BMC Pulmonary Medicine
https://read.qxmd.com/read/38436354/new-data-supporting-that-early-diagnosis-and-treatment-are-possible-and-necessary-in-intracellular-cobalamin-depletion-the-case-of-transcobalamin-ii-deficiency
#5
Bindi Verónica, Carolina Crespo, Noelia Lochner, Estefanía Rossetti, Cecilia Tagliavini, Carolina Bouso, Hernan Eiroa
OBJECTIVES: Transcobalamin II (TC) promotes the cellular uptake of cobalamin (Cbl) through receptor-mediated endocytosis of the TC-cbl complex in peripheral tissues. TC deficiency is a rare disorder that causes intracellular Cbl depletion. It presents in early infancy with a failure to thrive, diarrhea, anemia, agammaglobulinemia, and pancytopenia. Data from five TC-deficient patients including clinical, biochemical, and molecular findings, as well as long-term outcomes, were collected...
March 5, 2024: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/38419508/knuckle-hyperpigmentation-in-a-young-male-a-clinical-sign-of-b12-deficiency-not-to-be-missed
#6
JOURNAL ARTICLE
Harpreet Singh, Arvind Subramanian, Deba P Dibhar, Vikas Suri, Ashish Bhalla
Vitamin B12 and folate deficiency are reversible causes of megaloblastic anemia . Strict vegetarians are at risk of megaloblastic anemia due to low cobalamin in their diet . Knuckle hyperpigmentation in patients with megaloblastic anemia is due to excess melanin synthesis in skin. Here we present a case of a young vegetarian male with megaloblastic anemia with knuckle hyperpigmentation managed successfully with intravenous followed by oral vitamin b12 and folate supplementation.
February 29, 2024: Tropical Doctor
https://read.qxmd.com/read/38391342/an-extremely-rare-case-of-rogers-syndrome-or-thiamine-responsive-megaloblastic-anemia
#7
JOURNAL ARTICLE
Gurpreet Kaur, Ankur Ahuja, Arijit Sen, Paresh Singhal, Renjith Verghese
Rogers syndrome is an extremely rare autosomal recessive syndrome of which only 100 cases are known worldwide. It is characterized by thiamine-responsive megaloblastic anaemia, diabetes mellitus and sensorineural deafness. It results from the deficiency of a thiamine transporter protein. We herein report a 16-year-old Indian male referred to our centre with complaints of refractory anaemia, deafness, diabetes pulmonary arterial hypertension and tricuspid regurgitation. Based on the clinical features and haematologic picture and dramatic response of anaemia to thiamine therapy the possibility of a TRMA was considered...
September 5, 2023: Indian Journal of Pathology & Microbiology
https://read.qxmd.com/read/38295180/folate-depletion-induces-erythroid-differentiation-through-perturbation-of-de-novo-purine-synthesis
#8
JOURNAL ARTICLE
Adam G Maynard, Nancy K Pohl, Annabel P Mueller, Boryana Petrova, Alan Y L Wong, Peng Wang, Andrew J Culhane, Jeannette R Brook, Leah M Hirsch, Ngoc Hoang, Orville Kirkland, Tatum Braun, Sarah Ducamp, Mark D Fleming, Hojun Li, Naama Kanarek
Folate, an essential vitamin, is a one-carbon acceptor and donor in key metabolic reactions. Erythroid cells harbor a unique sensitivity to folate deprivation, as revealed by the primary pathological manifestation of nutritional folate deprivation: megaloblastic anemia. To study this metabolic sensitivity, we applied mild folate depletion to human and mouse erythroid cell lines and primary murine erythroid progenitors. We show that folate depletion induces early blockade of purine synthesis and accumulation of the purine synthesis intermediate and signaling molecule, 5'-phosphoribosyl-5-aminoimidazole-4-carboxamide (AICAR), followed by enhanced heme metabolism, hemoglobin synthesis, and erythroid differentiation...
February 2, 2024: Science Advances
https://read.qxmd.com/read/38226075/a-case-of-pernicious-anemia-presenting-with-severe-hemolysis
#9
Kaitlyn N Romero, Falguni Patel, Oshin Rai, Austin Quan, Pramod Reddy
Vitamin B12 deficiency is a well-known and overall common disease. While the etiology of vitamin B12 deficiency varies from post-surgical changes to inadequate dietary consumption, pernicious anemia should be considered as it is a common cause. Pernicious anemia is an autoimmune atrophic gastritis impairing the absorption of vitamin B12. Manifestations include neurological changes, macrocytic anemia, glossitis, and nail changes. Hemolytic anemia is an unusual complication of vitamin B12 deficiency and an even more unusual initial presentation...
December 2023: Curēus
https://read.qxmd.com/read/38106734/pernicious-anemia-with-spuriously-normal-b12-levels
#10
Ana Isabel Brochado, Joana Marques Dias, Marta Azevedo Ferreira, Ana Grilo, Ana Gonçalves
We present a 29-year-old man admitted to our hospital with fatigue for two months of duration and recent palpitations, lightheadedness, blurred vision and nausea. Workup showed pancytopenia with severe macrocytic anemia, laboratory and blood smear features of hemolysis, low reticulocyte percentage and a negative direct Coombs test. B12 and folate levels were normal. As bone marrow aspirate was suggestive of megaloblastic anemia and upper endoscopy showed atrophic gastritis, we ordered homocysteine (elevated) and intrinsic factor (IF) antibodies (positive)...
November 2023: Curēus
https://read.qxmd.com/read/38037112/an-italian-case-series-description-of-thiamine-responsive-megaloblastic-anemia-syndrome-importance-of-early%C3%A2-diagnosis-and-treatment
#11
JOURNAL ARTICLE
Francesca Di Candia, Valentina Di Iorio, Nadia Tinto, Riccardo Bonfanti, Claudio Iovino, Francesco Maria Rosanio, Ludovica Fedi, Fernanda Iafusco, Francesca Arrigoni, Rita Malesci, Francesca Simonelli, Andrea Rigamonti, Adriana Franzese, Enza Mozzillo
BACKGROUND: Individuals with thiamine-responsive megaloblastic anemia (TRMA) mainly manifest macrocytic anemia, sensorineural deafness, ocular complications, and nonautoimmune diabetes. Macrocytic anemia and diabetes may be responsive to high-dosage thiamine treatment, in contrast to sensorineural deafness. Little is known about the efficacy of thiamine treatment on ocular manifestations. CASES PRESENTATION: Our objective is to report data from four Italian TRMA patients: in Cases 1, 2 and 3, the diagnosis of TRMA was made at 9, 14 and 27 months...
November 30, 2023: Italian Journal of Pediatrics
https://read.qxmd.com/read/38021762/the-association-between-vitamin-b1-deficiency-and-anemia-among-elderly-patients-at-a-rural-hospital-in-japan-a-cross-sectional-study
#12
JOURNAL ARTICLE
Toshiki Fukunaga, Ryuichi Ohta, Chiaki Sano
Background and objective Vitamin B1 deficiency can cause a variety of abnormalities in the neuropsychiatric, cardiovascular, and other systems. This condition can be rapidly corrected and prevented from progressing to irreversible sequelae through vitamin B1 supplementation. Therefore, early detection of and intervention in vitamin B1 deficiency are essential. We have previously demonstrated an association between vitamin B1 deficiency and appetite loss in hospitalized older adult patients in rural Japan. This study aimed to examine the additional predictors of vitamin B1 deficiency in patients with appetite loss and other symptoms suggestive of vitamin B1 deficiency...
October 2023: Curēus
https://read.qxmd.com/read/37844051/a-new-case-of-association-of-megaloblastic-anemia-and-pancytopenia-of-infants
#13
H Bennani, A El Ouarradi, H Lazrek, H Yahyaoui, M Chakour
BACKGROUND: Vitamin B12, or cobalamin deficiency, an infrequent clinical entity in pediatric age, is found almost solely in breastfed infants whose mothers are purely vegetarian, non-supplemented or with pernicious anemia. Megaloblastic anemia in infants presents with generalized weakness or irritability. METHODS: Diagnosis is usually centered on complete blood count, vitamin dosing, and peripheral smear, which may show macrocytes, hypersegmented neutrophils, reticulocytopenia and a raised mean corpuscular volume (MCV ˃ 100 fL)...
October 1, 2023: Clinical Laboratory
https://read.qxmd.com/read/37817969/pernicious-anemia-following-covid-19-vaccination-a-report-of-two-cases
#14
Hamidreza Soltani, Saeb Taghizade, Abdolrahim Sadeghi, Ali Farahat, Mohammad Bagher Owlia
Since December 2019 and the global epidemic of COVID-19 different countries have focused on vaccines, and one of the inactivated produced vaccines was the Sinopharm COVID-19 vaccine. Some side effects of this vaccine were reported previously, including pain at the vaccination site, fatigue, lethargy, headache, and tenderness, which were more prevalent among individuals <49 years old. Herein, we reported two patients aged 45 and 51 years old. Both patients have different signs and symptoms after receiving the second dose of the vaccine...
July 1, 2023: International Journal of Hematology-oncology and Stem Cell Research
https://read.qxmd.com/read/37702666/endoplasmic-reticulum-stress-in-the-pathogenesis-of-hyperglycemia-induced-by-thiamine-responsive-megaloblastic-anemia
#15
JOURNAL ARTICLE
Xuan Zhang, Yuan-Yuan Qin, Yuping Ye, Fa-Quan Lin
BACKGROUND: Thiamine responsive megaloblastic anemia (TRMA) is a genetic disease caused by SLC19A2 gene mutation. This study aimed to preliminarily explore the relationship between endoplasmic reticulum stress (ERS)-PERK signaling pathway and the pathogenesis of hyperglycemia induced by TRMA. METHODS: Islet β (INS.1 and β-TC-6) and HEK293T cell line models with stable overexpression of SLC19A2 and SLC19A2 (c.1409insT) were established. The cells were divided into empty virus group (control), wild-type group (overexpressed SLC19A2), and mutation group (overexpressed SLC19A2 (c...
September 1, 2023: Clinical Laboratory
https://read.qxmd.com/read/37701349/a-retrospective-study-of-various-iron-preparations-oral-administration-in-pregnant-women-with-iron-deficiency-anemia
#16
JOURNAL ARTICLE
Bouschanetzis Constantinos, Anastasia Bothou, Efthimis Oikonomou, Demetris Kiriakou, Stavroula Papanikolopoulou, Spyridon Michalopoulos, Konstantinos Nikolettos, Grigorios Trypsiannis, Nikolaos Nikolettos, Panagiotis Tsikouras
During pregnancy anemia is a common medical condition, with iron deficiency and megaloblastic anemia being the most common. The symptoms range from very mild to severe and if left without proper medical treatment, there can be serious consequences for both mother and fetus. The most frequent pregnancy problem is anemia. The term "Iron Deficiency Anemia" refers to erythropoiesis under conditions of absolute iron deficiency. This presupposes the depletion of iron stores in the body. Iron deficiency anemia or Sideropenic anemia is the most common form of anemia worldwide...
2023: Materia Socio-medica
https://read.qxmd.com/read/37663641/retrospective-cross-sectional-study-of-34-cases-of-pernicious-anemia-at-mohammed-v-military-training-hospital-morocco
#17
JOURNAL ARTICLE
Youssra Azzouz, Soukaina Abidi, Saliha Chbicheb
INTRODUCTION: pernicious anemia is an autoimmune disease characterized by atrophic gastritis due to malabsorption of vitamin B12. Certain oral manifestations, such as Hunter´s glossitis and burning mouth syndrome, may precede the onset of this anemia. The aim of this study is to describe the clinical presentation, para-clinical aspects, the treatment, and the evolution of the pernicious anemia (PA) after treatment. METHODS: retrospective study conducted at the Department of Haematology and Internal Medicine B of the Mohammed V Military Training Hospital in Rabat between January 2009 and December 2018...
2023: Pan African Medical Journal
https://read.qxmd.com/read/37649984/flow-cytometry-detected-changes-in-megaloblastic-anemia-secondary-to-cobalamin-deficiency
#18
JOURNAL ARTICLE
Vania Briones, Fernanda Figueroa, Catalina Vidal, Vicente Micolich, Mauricio Chandia
INTRODUCTION: Megaloblastic anemias secondary to Vitamin B12 deficiency are a group of pathologies produced by defective nuclear DNA synthesis. OBJECTIVE: To describe the maturation alterations found in hematopoietic precursors of the bone marrow in a series of patients with megaloblastic anemia. METHODS: Were included patients attended at the Regional Hospital of Concepción with bone marrow samples sent for the study of cytopenia by flow cytometry whose final diagnosis was megaloblastic anemia...
2023: Colombia Médica: CM
https://read.qxmd.com/read/37593262/a-rare-concurrence-of-myelodysplastic-neoplasia-and-tetrasomy-8-in-a-3-year-old-bahraini-male
#19
Zainab A Toorani, Ameera A Radhi, Merna M Hassan, Ameera A Aloraibi
Myelodysplastic neoplasia (MDS) is a group of stem cell disorders involving ineffective hematopoiesis. It can be associated with an increased risk of progression toward acute myeloid leukemia (AML). In Bahrain, MDS is the fifth most common primary hematologic malignancy. MDS has an annual incidence of up to 4 million cases. Some of the presenting signs and symptoms of MDS are often nonspecific, such as fatigue, pallor, malaise, fevers, bleeding, bruising, weight loss, and anorexia. Approximately 40% of patients with MDS progress to AML...
July 2023: Curēus
https://read.qxmd.com/read/37588947/megaloblastic-anemia-in-bardet-biedl-syndrome-a-rare-case-report
#20
Subtain Hassan, Qaisar Ali Khan, Priyadharshini Saravanan, Sumaira Iram, Samia Rohail, Naod F Belay, Muhammad Afzal, Faiza Amatul Hadi, Harshawardhan Pande
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. Other associated condition includes diabetes mellitus, hypertension, hypogonadism, facial dysmorphism, and congenital heart defects. This case highlights megaloblastic anemia associated with BBS. CASE PRESENTATION: A 16-year-old female patient who had a moon face, truncal obesity, polydactyly, low IQ, and visual impairment presented with the complaint of shortness of breath and easy fatiguability...
2023: Clinical Medicine Insights. Case Reports
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