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megaloblastic anemia children

Coral M Stredny, Olivia Frosch, Samata Singhi, Elissa Furutani, Adam D Durbin, Rachael F Grace, Nicole J Ullrich
BACKGROUND: Vitamin B12 deficiency is classically encountered in the adult Caucasian population and manifests as a subacute combined degeneration in the presence or absence of macrocytic anemia. However, B12 deficiency is extremely rare in children in developed countries, and pernicious anemia is even rarer etiology of this deficiency. The clinical presentation of B12 deficiency in children is not as easily recognizable or well-characterized and may result in missed or delayed diagnosis...
September 2016: Pediatric Neurology
Gunita Zariņa, Sabrina B Sholts, Alina Tichinin, Vita Rudovica, Arturs Vīksna, Austra Engīzere, Vitolds Muižnieks, Eric J Bartelink, Sebastian K T S Wärmländer
Cribra orbitalia (CO), or porotic hyperostosis (PH) of the orbital roof, is one of the most common pathological conditions found in archaeological subadult skeletal remains. Reaching frequencies higher than 50% in many prehistoric samples, CO has been generally attributed to a variety of factors including malnutrition (e.g., megaloblastic anemia) and parasitism. In this study, we tested the relationship between CO, trace element concentrations, and stable isotope values (δ(13)C, δ(15)N, δ(18)O) in subadult skeletons from a 17(th) to 18(th) century cemetery in the historic town of Jēkabpils, Latvia...
May 24, 2016: Journal of Trace Elements in Medicine and Biology
Anne M Williams, Caroline J Chantry, Sera L Young, Beryl S Achando, Lindsay H Allen, Benjamin F Arnold, John M Colford, Holly N Dentz, Daniela Hampel, Marion C Kiprotich, Audrie Lin, Clair A Null, Geoffrey M Nyambane, Setti Shahab-Ferdows, Christine P Stewart
BACKGROUND: Breast milk vitamin B-12 concentration may be inadequate in regions in which animal-source food consumption is low or infrequent. Vitamin B-12 deficiency causes megaloblastic anemia and impairs growth and development in children. OBJECTIVE: We measured vitamin B-12 in breast milk and examined its associations with household hunger, recent animal-source food consumption, and vitamin B-12 intake. METHODS: In a cross-sectional substudy nested within a cluster-randomized trial assessing water, sanitation, hygiene, and nutrition interventions in Kenya, we sampled 286 women 1-6 mo postpartum...
May 2016: Journal of Nutrition
Insa Buers, Petra Pennekamp, Yvonne Nitschke, Chrishanthi Lowe, Boris V Skryabin, Frank Rutsch
The rare inborn cblF defect of cobalamin metabolism is caused by mutations in the limb region 1 (LMBR1) domain containing 1 gene (LMBRD1). This defect is characterized by massive accumulation of free cobalamin in lysosomes and loss of mitochondrial succinyl-CoA synthesis and cytosolic methionine synthesis. Affected children suffer from heart defects, developmental delay and megaloblastic anemia. LMBRD1 encodes for LMBD1, a predicted lysosomal cobalamin transport protein. In this study, we determine the physiological function of LMBRD1 during embryogenesis by generating Lmbrd1 deficient mice using the Cre/LoxP system...
August 2016: Journal of Cellular and Molecular Medicine
Grazyna Krzemień, Agnieszka Turczyn, Agnieszka Szmigielska, Maria Roszkowska-Blaim
UNLABELLED: Improvement in the quality of life in Europe and North America in last decades caused that economical and social aspects of living conditions of the population have less effect and genetic defects of malabsorption of vitamin B12 became the main reason for cobalamin deficiency in children. Imerslund-Grasbeck syndrome (IGS) is characterized by vitamin B12 deficiency that leads usually to megaloblastic anemia and mild proteinuria. We described two pairs of siblings in two families with IGS...
July 2015: Developmental Period Medicine
Rajesh K Kulkarni, Aarti Kinikar, Chhaya Valvi, Sandhya Khadse
No abstract text is available yet for this article.
July 2016: Indian Journal of Pediatrics
Takeshi Asano, Hidehiko Narazaki, Kiyohiko Kaizu, Shouhei Matsukawa, Yuki Takema-Tochikubo, Shuichi Fujii, Nobuyuki Saitoh, Kunihiko Mashiko, Osamu Fujino
Although thrombotic thrombocytopenic purpura (TTP) is rare, early diagnosis and treatment are important for decreasing the mortality rate. Acquired vitamin B12 deficiency is frequently overlooked because of its rarity in developed countries, particularly in children and adolescents. The hematological changes in vitamin B12 deficiency present as megaloblastic anemia, increased lactate dehydrogenase, vasoconstriction, increased platelet aggregation, and abnormal activation of the coagulation followed by microangiopathy as well as neutropenia and thrombocytopenia...
October 2015: Pediatrics International: Official Journal of the Japan Pediatric Society
Alison Keenan, Benjamin Whittam, Richard Rink, Martin Kaefer, Rosalie Misseri, Shelly King, Mark Cain
INTRODUCTION: Serum B12 deficiency is a known sequlae of enterocystoplasty. The complications of B12 deficiency include megaloblastic anemia, neuropsychiatric disease, and demyelinating diseases such as peripheral neuropathy. Some studies have suggested that underlying disease states may be more important than enteric absorptive capacity in predicting acquired B12 deficiency. A 38% incidence of low or low-normal serum B12 in patients who have undergone enterocystoplasty has previously been reported, and oral B12 supplementation has been demonstrated to be an effective short-term therapy; however, the long-term results remain unclear...
October 2015: Journal of Pediatric Urology
Andreas Duma, Christopher Cartmill, Jane Blood, Anshuman Sharma, Evan D Kharasch, Peter Nagele
BACKGROUND: Prolonged administration of nitrous oxide causes an increase in plasma homocysteine in children via vitamin B12 inactivation. However, it is unclear whether nitrous oxide doses used in clinical practice cause adverse hematological effects in pediatric patients. METHODS: This retrospective study included 54 pediatric patients undergoing elective spinal surgery: 41 received nitrous oxide throughout anesthesia (maintenance group), 9 received nitrous oxide for induction and/or emergence (induction/emergence group), and 4 did not receive nitrous oxide (nitrous oxide-free group)...
June 2015: Anesthesia and Analgesia
Çapan Konca, Murat Söker, Mehmet Ali Taş, Ruken Yıldırım
To determine the clinical and hematologic features of 68 children with hereditary spherocytosis (HS). In this retrospective study, we analyzed recorded information of 68 HS patients diagnosed between March 1997 and March 2007, including clinical manifestations at admission, gender, median age at diagnosis, family history, hematologic and biochemical data, patient management, complications, median age of splenectomy, and median follow-up time. Sixty-eight patients with HS (36 male and female) were investigated...
March 2015: Indian Journal of Hematology & Blood Transfusion
A Ferrand, V M Siu, C A Rupar, M P Napier, O Y Al-Dirbashi, P Chakraborty, C Prasad
Intrinsic factor deficiency (OMIM #261000, IFD) is a rare inherited disorder of vitamin B12 metabolism due to mutations in the gastric intrinsic factor (GIF) gene.We report three individuals from an Old Order Mennonite community who presented with B12 deficiency. Two cases are siblings born to consanguineous parents and the third case is not known to be closely related. The older male sib presented at 4 years with gastrointestinal symptoms, listlessness, and pallor. He had pancytopenia with megaloblastic anemia...
2015: JIMD Reports
Celebi Kocaoglu, Fatih Akin, Hüseyin Caksen, Saltuk Buğra Böke, Sükrü Arslan, Serhat Aygün
In developed countries, vitamin B12 (cobalamin) deficiency usually occurs in children, exclusively breastfed ones whose mothers are vegetarian, causing low body stores of vitamin B12. The haematologic manifestation of vitamin B12 deficiency is pernicious anaemia. It is a megaloblastic anaemia with high mean corpuscular volume and typical morphological features, such as hyperlobulation of the nuclei of the granulocytes. In advanced cases, neutropaenia and thrombocytopaenia can occur, simulating aplastic anaemia or leukaemia...
June 2014: Journal of Health, Population, and Nutrition
Mohammad Taghi Akbari, Shohreh Zare Karizi, Reza Mirfakhraie, Bijan Keikhaei
UNLABELLED: Thiamine-responsive megaloblastic anemia (TRMA) or Roger syndrome is a rare autosomal recessive disorder characterized by the occurrence of multiple clinical manifestations including megaloblastic anemia, diabetes mellitus, and sensorineural deafness. A few patients have been also described with congenital cardiac malformations. The patients usually respond to treatment with pharmacological doses of thiamine. Mutations in the SLC19A2 gene, located at chromosome 1q24.2, are responsible for this syndrome...
December 2014: European Journal of Pediatrics
Anwar Zeb Jan, Bakhtyar Zahid, Samreen Ahmad, Zahid Gul
OBJECTIVE: To determine the various spectrum of pancytopenia with its frequency on the basis of bone marrow examination in children from 6 months to 14 years. METHODS: A retrospective descriptive study was carried out at Department of Pediatric Rehman Medical Institute Peshawar from January 2006 to December 2012. A total of 205 patient's age between 6 months and 14 years, fulfilling the inclusion and exclusion criteria were included in the study. Complete blood count, peripheral smear, bone marrow examination and Serum vitamin B12 level was done in all the cases...
September 2013: Pakistan Journal of Medical Sciences Quarterly
Biswaroop Chakrabarty, Rachana Dubey, Sheffali Gulati, Sangeetha Yoganathan, Ajay Kumar, Atin Kumar
Deficiency of vitamin B12 causes megaloblastic anemia and nervous system demyelination. Structures affected in the nervous system include spinal cord, cranial and peripheral nerves, and brain white matter. A 9-year-old boy presented with knuckle hyperpigmentation and oral ulcers for 3 years, pallor and easy fatigability for 6 months, gait abnormalities for 3 months, and abnormal speech and behavioral abnormalities for 3 days. On examination, he had physical signs of megaloblastic anemia, mood swings with intermittent hallucinations, and features of cerebellar impairment...
November 2014: Journal of Child Neurology
Neha Thakur, Jagdish Chandra, Harish Pemde, Varinder Singh
OBJECTIVES: India has the highest prevalence of severe acute malnutrition (SAM). Severe anemia is one of the comorbidities responsible for increased mortality in severely malnourished children, yet it has not received the attention it should. The aim of the present study was to determine the prevalence and type of anemia and to evaluate the possible etiologies for severe anemia, in these children. METHODS: A cross-sectional study of patients with SAM in a tertiary care hospital in northern India over a period of 12 mo from Sept...
April 2014: Nutrition
Ismail Beshlawi, Shoaib Al Zadjali, Wafa Bashir, Mohamed Elshinawy, Abdulhakim Alrawas, Yasser Wali
BACKGROUND: Thiamine responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type 1 diabetes mellitus and sensorineural deafness. Other clinical findings have been described in few cases. The SLC19A2 gene on chromosome 1q 23.3 is implicated in all cases with TRMA. Our aim is to discuss the clinical manifestations of all Omani children diagnosed with TRMA and determine genotype-phenotype relationship. PROCEDURE: Clinical and laboratory data of all patients diagnosed in Oman were retrospectively collected...
March 2014: Pediatric Blood & Cancer
Vehbi Doğan, Filiz Senocak, Utku Arman Orün, Ozben Ceylan
Despite advances in device closure for atrial septal defect, post-closure heart failure remains a clinical problem in adult patients but is seen only rarely in children. An eight-year-old boy, who had been followed by a local pediatrician with the diagnosis of diabetes mellitus and congenital heart disease, was consulted to us for cardiac re-evaluation. Electrocardiography demonstrated absent P waves, and echocardiography revealed enlargement of the right ventricle and both atria and secundum atrial septal defect...
October 2013: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
Gordon J Hildick-Smith, Jeffrey D Cooney, Caterina Garone, Laura S Kremer, Tobias B Haack, Jonathan N Thon, Non Miyata, Daniel S Lieber, Sarah E Calvo, H Orhan Akman, Yvette Y Yien, Nicholas C Huston, Diana S Branco, Dhvanit I Shah, Matthew L Freedman, Carla M Koehler, Joseph E Italiano, Andreas Merkenschlager, Skadi Beblo, Tim M Strom, Thomas Meitinger, Peter Freisinger, M Alice Donati, Holger Prokisch, Vamsi K Mootha, Salvatore DiMauro, Barry H Paw
We used exome sequencing to identify mutations in sideroflexin 4 (SFXN4) in two children with mitochondrial disease (the more severe case also presented with macrocytic anemia). SFXN4 is an uncharacterized mitochondrial protein that localizes to the mitochondrial inner membrane. sfxn4 knockdown in zebrafish recapitulated the mitochondrial respiratory defect observed in both individuals and the macrocytic anemia with megaloblastic features of the more severe case. In vitro and in vivo complementation studies with fibroblasts from the affected individuals and zebrafish demonstrated the requirement of SFXN4 for mitochondrial respiratory homeostasis and erythropoiesis...
November 7, 2013: American Journal of Human Genetics
Murat Özkale, Tansu Sipahi
BACKGROUND: All systems in an organism are affected by protein-energy malnutrition (PEM), but one of the worst affected is the hematopoietic system. Today PEM remains a very serious problem in developing countries. We examined the relationships between clinical features, hematological, and bone marrow changes with severe PEM from Turkey. METHOD: We evaluated 34 (11 females and 23 males) consecutive cases of severe PEM, with no underlying diseases aged 3-20 months...
May 2014: Pediatric Hematology and Oncology
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