8,382 results match your criteria Anemia Megaloblastic


Peripheral Blood and Bone Marrow Findings in Chronic Alcoholics with Special Reference to Acquired Sideroblastic Anemia.

Indian J Hematol Blood Transfus 2020 Jul 25;36(3):559-564. Epub 2019 Sep 25.

Department of Pathology, University College of Medical Sciences and Guru Teg Bahadur Hospital, Dilshad Garden, New Delhi, 110095 Delhi India.

Anemia associated with alcoholism has numerous causes, most common being megaloblastic anemia and acquired sideroblastic anemia (SA). The bone marrow aspirate (BMA) and bone marrow iron (BMIr) findings and their correlation with peripheral blood smear (PBS) have not been extensively described in literature. We aim to study the spectrum of hematological abnormalities in chronic alcoholics. Read More

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http://dx.doi.org/10.1007/s12288-019-01188-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7326746PMC

Dyserythropoiesis and myelodysplasia in thiamine-responsive megaloblastic anemia syndrome.

Clin Case Rep 2020 Jun 6;8(6):991-994. Epub 2020 Mar 6.

Department of Pediatrics Faculty of Medicine Lorestan University of Medical Sciences Khorramabad Iran.

The case of thiamine-responsive megaloblastic anemia (TRMA) presented here speculates the need early diagnosis, continuous monitoring, follow-up, and regulated treatment plan for the patients. Complications and systemic manifestations are likely to enhance in otherwise circumstances. Read More

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http://dx.doi.org/10.1002/ccr3.2791DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303871PMC

Pernicious anaemia: switch to oral B12 supplementation to reduce risk of covid-19 transmission.

Authors:
Amrit Takhar

BMJ 2020 06 17;369:m2383. Epub 2020 Jun 17.

Wansford and Kings Cliffe Practice, Wansford PE8 6PL, UK.

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http://dx.doi.org/10.1136/bmj.m2383DOI Listing

Fatal Covid-19 in a Malnourished Child with Megaloblastic Anemia.

Indian J Pediatr 2020 Jun 17. Epub 2020 Jun 17.

Department of Pediatrics, B. J. Government Medical College, Pune, Maharashtra, India.

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http://dx.doi.org/10.1007/s12098-020-03408-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7297666PMC

Pernicious anaemia: self-administration of hydroxocobalamin in the covid-19 crisis.

Authors:
John Warren

BMJ 2020 06 16;369:m2380. Epub 2020 Jun 16.

Harlow CM17 0DX, UK.

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http://dx.doi.org/10.1136/bmj.m2380DOI Listing

Three infants with megaloblastic anemia caused by maternal vitamin B deficiency.

Pediatr Int 2020 Jun 15. Epub 2020 Jun 15.

Department of Pediatrics, Seirei Hamamatsu General Hospital, Shizuoka, Japan.

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http://dx.doi.org/10.1111/ped.14196DOI Listing

Hematological findings associated with neurodevelopmental delay in infants with vitamin B12 deficiency.

Authors:
Mahmut Keskin

Acta Neurol Belg 2020 May 24. Epub 2020 May 24.

Department of Pediatrics, Süleyman Demirel University Medical Faculty, Çünür, 32260, Isparta, Turkey.

In adults with vitamin B12 deficiency, an inverse correlation between the severity of megaloblastic anemia and the degree of neurological dysfunction has been reported. We aimed to evaluate the association between hematological findings and the results of neurodevelopmental assessment in infants. Denver-II developmental screening test (DDST II) was performed in vitamin B12-deficient infants (n = 122), and its relationship with hematological findings was evaluated. Read More

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http://dx.doi.org/10.1007/s13760-020-01388-1DOI Listing

Monogenic diabetes: A single center experience from South India.

Pediatr Diabetes 2020 May 16. Epub 2020 May 16.

Department of Endocrinology, Amrita Institute of Medical Sciences (AIMS), Cochin, Kerala, India.

Monogenic forms of diabetes in children are frequently misclassified as either type 1 diabetes or young-onset type 2 diabetes. There is a paucity of literature regarding pediatric monogenic diabetes in the Indian population. A retrospective analysis of case records of 37 children with monogenic diabetes who were diagnosed between 2008 and 2019 in a South Indian tertiary care center was performed. Read More

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http://dx.doi.org/10.1111/pedi.13040DOI Listing

Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency.

Mol Genet Metab 2020 Jul 5;130(3):179-182. Epub 2020 May 5.

Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.; Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.; Division of Medical Biochemistry, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.

MTHFD1 is a trifunctional protein containing 10-formyltetrahydrofolate synthetase, 5,10-methenyltetrahydrofolate cyclohydrolase and 5,10-methylenetetrahydrofolate dehydrogenase activities. It is encoded by MTHFD1 and functions in the cytoplasmic folate cycle where it is involved in de novo purine synthesis, synthesis of thymidylate and remethylation of homocysteine to methionine. Since the first reported case of severe combined immunodeficiency resulting from MTHFD1 mutations, seven additional patients ascertained through molecular analysis have been reported with variable phenotypes, including megaloblastic anemia, atypical hemolytic uremic syndrome, hyperhomocysteinemia, microangiopathy, infections and autoimmune diseases. Read More

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http://dx.doi.org/10.1016/j.ymgme.2020.04.008DOI Listing

Macropolycytes: Severe stress time for neutrophils.

Morphologie 2020 May 11. Epub 2020 May 11.

Faculty of Medicine, Imperial College, South Kensington Campus, SW7 2AZ London, UK. Electronic address:

Macropolycytes are giant neutrophils found in a variety of benign and neoplastic conditions. Since megaloblastic anaemia is one of the recognised causes of macropolycytes, other blood film features of megaloblastic anaemia should be sought when they harbor hypersegmented nuclei. When they are hypolobulated and hypogranular, the occurrence of a myelodysplastic syndrome must be investigated. Read More

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http://dx.doi.org/10.1016/j.morpho.2020.04.001DOI Listing

Deoxyuracil in DNA in health and disease.

Curr Opin Clin Nutr Metab Care 2020 Jul;23(4):247-252

Texas A&M AgriLife Research, Texas A&M University, College Station, Texas, USA.

Purpose Of Review: Genome instability has long been implicated as a primary causal factor in cancer and diseases of aging. The genome is constantly under attack from extrinsic and intrinsic damaging agents. Uracil misincorporation in DNA and its repair is an intrinsic factor resulting in genomic instability and DNA mutations. Read More

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http://dx.doi.org/10.1097/MCO.0000000000000660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7347158PMC

Pernicious anaemia.

BMJ 2020 Apr 24;369:m1319. Epub 2020 Apr 24.

First point Healthcare, Launceston, Australia.

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http://dx.doi.org/10.1136/bmj.m1319DOI Listing

Megaloblastic anemia and bilateral disc edema: An enigma… Have we figured it out yet?

Taiwan J Ophthalmol 2020 Jan-Mar;10(1):71-75. Epub 2020 Mar 4.

Department of Ophthalmology, V.M.M.C and Safdarjung Hospital, New Delhi, India.

A 28-year-old male presented with insidious-onset, painless, progressive diminution of vision in both eyes. He denied any other ocular symptoms. On examination, visual acuity in both eyes was 6/60. Read More

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http://dx.doi.org/10.4103/tjo.tjo_27_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7158926PMC

Cobalamin C deficiency presenting with diffuse alveolar hemorrhage and pulmonary microangiopathy.

Pediatr Pulmonol 2020 Jun 15;55(6):1481-1486. Epub 2020 Apr 15.

Department of Respiratory Medicine II, Beijing Children's Hospital affiliated to Capital Medical University, National Center for Children's Health, Beijing, P.R. China.

Objective: Combined methylmalonic acidemia and homocysteinemia is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism, which consists of five subtypes including cblC, cblD, cblF, cblJ, and cblX deficiencies. The purpose of this study is to summarize new clinical features mainly diffuse alveolar hemorrhage (DAH) in cblC deficiency.

Methods: We made a retrospective analysis of four pediatric patients diagnosed with DAH and pulmonary microangiopathy due to cblC deficiency between January 2017 and December 2018 in Beijing Children's Hospital. Read More

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http://dx.doi.org/10.1002/ppul.24781DOI Listing

Vitamin B deficiency as a cause of severe neurological symptoms in breast fed infant - a case report.

Ital J Pediatr 2020 Mar 30;46(1):40. Epub 2020 Mar 30.

Department of Neonate and Infant Pathology, Medical University of Lublin, Prof. Gębali 6 str, 20-093, Lublin, Poland.

Background: Vitamin B (cobalamin, cbl) deficiency in children is rare and may occurs in exclusively breast fed infants of mothers on vegetarian or vegan diet with lack of appropriate supplementation. The clinical manifestation of vitamin B12 deficiency include neurological disorders, megaloblastic anemia and failure to thrive. Routine and commonly used laboratory tests such as cell blood count (CBC) or serum vitamin B level are sufficient for appropriate diagnosis. Read More

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http://dx.doi.org/10.1186/s13052-020-0804-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7106665PMC

A clinical and experimental study of adult hereditary spherocytosis in the Chinese population.

Kaohsiung J Med Sci 2020 Jul 5;36(7):552-560. Epub 2020 Mar 5.

Department of Hematology, Nanjing First Hospital, Nanjing Medical University, Nanjing, China.

Hereditary spherocytosis (HS) is often misdiagnosed due to lack of specific diagnostic methods. Our study summarized clinical characteristics and described the diagnostic workflow for mild and moderate HS in Chinese individuals, using data from 20 adults, 8 of whom presented a familial history for HS. We used scanning electron microscopy (SEM) to diagnose HS. Read More

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http://dx.doi.org/10.1002/kjm2.12198DOI Listing

Severe megaloblastic anemia: Vitamin deficiency and other causes.

Cleve Clin J Med 2020 Mar;87(3):153-164

Department of Laboratory Medicine, Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic

Megaloblastic anemia causes macrocytic anemia from ineffective red blood cell production and intramedullary hemolysis. The most common causes are folate (vitamin B) deficiency and cobalamin (vitamin B) deficiency. Megaloblastic anemia can be diagnosed based on characteristic morphologic and laboratory findings. Read More

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http://dx.doi.org/10.3949/ccjm.87a.19072DOI Listing

A Case of Subacute Combined Degeneration of Spinal Cord Diagnosed by Vitamin B Administration Lowering Methylmalonic Acid.

Case Rep Neurol 2020 Jan-Apr;12(1):27-34. Epub 2020 Jan 15.

Division of Neurology, Department of Internal Medicine, St. Marianna University School of Medicine, Kawasaki, Japan.

Subacute combined degeneration of the spinal cord (SCDS) is a neurodegenerative disease characterized by subacute progression in the central and peripheral nervous systems mainly caused by vitamin B12 deficiency. It is known that typical SCDS is frequently accompanied by megaloblastic anemia and increased serum methylmalonic acid (MMA) or homocysteine (Hcy) levels on laboratory findings, and marked abnormalities on spinal cord magnetic resonance imaging (MRI). A 45-year-old woman was admitted to our hospital with a 2-year history of worsening mild weakness, numbness in bilateral lower limbs, and gait disturbance. Read More

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http://dx.doi.org/10.1159/000505321DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7011716PMC
January 2020

Stroke as an Initial Manifestation of Thiamine-Responsive Megaloblastic Anemia.

Ann Indian Acad Neurol 2020 Jan-Feb;23(1):136-138

Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.4103/aian.AIAN_166_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7001442PMC
February 2020
0.514 Impact Factor

Diagnostic difficulties in pernicious anemia.

Authors:
Thein Hlaing Oo

Discov Med 2019 Nov-Dec;28(155):247-253

Section of Thrombosis and Benign Hematology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030, USA.

Pernicious anemia (PA), the commonest cause of cobalamin deficiency (CD) in the world, is an autoimmune disease of multifactorial origin and is characterized by chronic atrophic gastritis (CAG) and defective absorption of cobalamin from the terminal ileum due to interference by the intrinsic factor (IF) antibodies. PA-related CD is a lengthy process, which if untreated, can lead to irreversible hematological and neurological sequelae. Although safe and effective therapy is available and the management of PA is straightforward, the diagnosis of PA can be extremely difficult to obtain due to myriad and diverse clinical presentations, frequently coexisting diseases, and limitations of currently available diagnostic tests. Read More

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May 2020
3.503 Impact Factor

Imerslund-Gräsbeck Syndrome presenting with microangiopathic hemolytic anemia in a child.

Eur J Med Genet 2020 Jun 8;63(6):103880. Epub 2020 Feb 8.

University of Health Sciences Ankara Numune Training and Research Hospital, Department of Medical Genetics, Turkey.

Imerslund-Gräsbeck Syndrome is a rare autosomal recessive disorder characterized by proteinuria and selective malabsorption of cobalamin. Deficiency of cobalamin can lead to megaloblastic anemia, pancytopenia and even "pseudo"-thrombotic microangiopathy (TMA). Signs of mechanical hemolysis on peripheral blood smear, elevated lactate dehydrogenase and thrombocytopenia are common findings of TMA. Read More

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http://dx.doi.org/10.1016/j.ejmg.2020.103880DOI Listing

Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in a small child: A case report.

Medicine (Baltimore) 2020 Jan;99(3):e18759

Department of Pediatrics, "George Emil Palade" University of Medicine, Pharmacy, Sciences and Technology of Târgu Mureş, Romania.

Introduction: Hemophagocytic lymphohistiocytosis (HLH) is a rare, potentially lethal disorder, characterized by a dysregulation of the immune response, leading to a severe inflammatory syndrome. Epstein-Barr virus (EBV)-associated HLH is a form of secondary HLH, a fulminant presentation of an otherwise benign viral infection.

Patient Concerns: We report the case of a 3-year-old girl who presented with fever, signs of accute upper respiratory tract infection and spontaneous, disseminated ecchymoses. Read More

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http://dx.doi.org/10.1097/MD.0000000000018759DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7220251PMC
January 2020

Comparison of Serum Holotranscobalamin with Serum Vitamin B12 in People Prone to Megaloblastic Anemia and Correlation with Nerve Conduction Study.

J Assoc Physicians India 2020 Jan;68(1):101

Department of General Medicine, Maulana Azad Medical College, New Delhi.

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January 2020

Megaloblastic Anemia in Chronic Alcoholics: A case series.

J Assoc Physicians India 2020 Jan;68(1):98

KJ Somaiya Medical College and Hospital, Ayurvihar, Sion, Mumbai.

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January 2020

West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother.

Front Pediatr 2019 20;7:531. Epub 2019 Dec 20.

Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan.

Infantile vitamin B12 deficiency, a rare nutritional disorder in developed countries, is characterized by megaloblastic anemia and non-specific symptoms, including failure to thrive, hypotonia, and seizure. Symptoms usually develop at 6 months of age. Exclusively breast-fed infants of vegan-diet mothers are particularly at risk. Read More

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http://dx.doi.org/10.3389/fped.2019.00531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6951394PMC
December 2019

An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment.

Turk J Pediatr 2019 ;61(2):282-285

Clinic of Pediatrics, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara.

Kasapkara ÇS, Yılmaz-Keskin E, Özbay-Hoşnut F, Akçaboy M, Polat E, Olgaç A, Zorlu P. An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment. Turk J Pediatr 2019; 61: 282-285. Read More

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http://dx.doi.org/10.24953/turkjped.2019.02.021DOI Listing

A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.

Turk J Pediatr 2019 ;61(2):257-260

Departments of Pediatric Endocrinology, Kanuni Sultan Suleyman Training and Research Hospital, İstanbul, Turkey.

Odaman-Al I, Gezdirici A, Yıldız M, Ersoy G, Aydoğan G, Şalcıoğlu Z, Tahtakesen TN, Önal H, Küçükemre-Aydın B. A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome. Turk J Pediatr 2019; 61: 257-260. Read More

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http://dx.doi.org/10.24953/turkjped.2019.02.015DOI Listing

A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.

Turk J Pediatr 2019 ;61(2):257-260

Departments of Pediatric Endocrinology, Kanuni Sultan Suleyman Training and Research Hospital, İstanbul, Turkey.

Odaman-Al I, Gezdirici A, Yıldız M, Ersoy G, Aydoğan G, Şalcıoğlu Z, Tahtakesen TN, Önal H, Küçükemre-Aydın B. A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome. Turk J Pediatr 2019; 61: 257-260. Read More

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http://dx.doi.org/10.24953/turkjped.2019.02.015DOI Listing

Clinico-hematological study of pancytopenia: A single-center experience from north Himalayan region of India.

J Family Med Prim Care 2019 Dec 10;8(12):3944-3948. Epub 2019 Dec 10.

Department of Pathology and Lab Medicine, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.

Background: Pancytopenia, an important hematological presentation is associated with different causes, which may vary in different regions. Uttarakhand, a north Himalayan state of India lacks studies of pancytopenia and the prevalent causes present in this region. Therefore, the present study was conducted to study the clinico-hematological profile of pancytopenia in a tertiary care center in the Uttarakhand, a north Himalayan state of India. Read More

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http://dx.doi.org/10.4103/jfmpc.jfmpc_539_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6924218PMC
December 2019

The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2.

J Child Neurol 2020 Mar 23;35(4):283-290. Epub 2019 Dec 23.

Division of Audiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Purpose: To identify symptoms and health care interactions with patients with riboflavin transporter deficiency (RTD) type 2 prior to diagnosis.

Methods: Parents of children with riboflavin transporter deficiency type 2 (n = 10) were interviewed to collect data on the patient's clinical journey.

Results: The average diagnostic delay was 27. Read More

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http://dx.doi.org/10.1177/0883073819893159DOI Listing

Vitamin B12 Deficiency Anemia and Polyneuropathy Due to Chronic Radiation Enteritis.

Intern Med 2020 Mar 18;59(6):859-861. Epub 2019 Nov 18.

Division of Gynecology, Shizuoka Cancer Center, Japan.

A 62-year-old Japanese woman developed numbness of the extremities and megaloblastic anemia. She had undergone total abdominal hysterectomy, whole-pelvis radiation therapy and chemotherapy for gynecological cancer 10 years before. Chronic abdominal pain, diarrhea and intermittent small-bowel obstruction had afflicted her for a long time. Read More

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http://dx.doi.org/10.2169/internalmedicine.3695-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118398PMC

The association between vitamin deficiency and otolaryngologic diseases: A therapeutic target.

Med Hypotheses 2020 Feb 23;135:109448. Epub 2019 Oct 23.

The Third Hospital of Wuhan City, Wuhan, China. Electronic address:

Vitamins are indispensable nutrients for metabolism. Adequate vitamin intake plays vital role in physiological processes including embryonic development, cellular and immunity proliferation and differentiation, DNA synthesis and oxidative response. In contrast, insufficient vitamin levels usually lead to a large number of clinical manifestations including xerophthalmia, nyctalopia, hyperpigmentation, vitiligo, jaundice, megaloblastic anemia, glossitis, scurvy, stroke, cancer, coronary heart disease, Alzheimer's disease, multiple sclerosis and Parkinson's disease. Read More

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http://dx.doi.org/10.1016/j.mehy.2019.109448DOI Listing
February 2020

[Interest of a pharmacovigilance medical consultation: Example of metformin-induced-vitamin B12 deficiency].

Presse Med 2019 Nov 11;48(11 Pt 1):1216-1221. Epub 2019 Nov 11.

Toulouse University Hospital, Centre of PharmacoVigilance and Pharmacoepidemiology, Faculty of Medicine, Department of Medical and Clinical Pharmacology, 31000 Toulouse, France. Electronic address:

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http://dx.doi.org/10.1016/j.lpm.2019.09.024DOI Listing
November 2019

[Hereditary spherocytosis in the experience of two pediatric clinics from Targu Mures].

Orv Hetil 2019 Nov;160(45):1798-1803

1. és 2. Sz. Gyermekgyógyászati Klinika, Hematoonkológia Osztály, Marosvásárhelyi Orvosi és Gyógyszerészeti Egyetem Marosvásárhely, Románia.

Hereditary spherocytosis is a genetically determined familial hemolytic anemia. Clinically it is ranged from an asymptomatic condition to severe hemolytic anemia. The major complications are aplastic or megaloblastic crisis, hemolytic crisis, cholecystitis and cholelithiasis. Read More

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http://dx.doi.org/10.1556/650.2019.31345DOI Listing
November 2019
1 Read

Autoimmune Gastritis.

Arch Pathol Lab Med 2019 11;143(11):1327-1331

From the Department of Pathology, University of Michigan Medical School, Ann Arbor.

Context.—: Autoimmune gastritis (AG) is a corpus-restricted chronic atrophic gastritis associated with intrinsic factor deficiency, either with or without pernicious anemia. Autoimmune gastritis is a microscopic disease because patients present with no or vague symptoms, and clinicians rarely find endoscopic changes. Read More

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http://dx.doi.org/10.5858/arpa.2019-0345-RADOI Listing
November 2019
12 Reads

Vitamin B12 deficiency mimicking acute leukemia.

Proc (Bayl Univ Med Cent) 2019 Oct 30;32(4):589-592. Epub 2019 Jul 30.

Department of Hematology and Oncology, University of Arkansas for Medical SciencesLittle RockArkansas.

Vitamin B12 deficiency can cause extensive hematologic alterations such as pancytopenia, macrocytosis, hypersegmentation of neutrophils, and hypercellular bone marrow with blastic differentiation. These dysplastic changes can sometimes be so profound that they mimic myelodysplastic syndromes or even acute leukemia, leading to extensive workup and aggressive treatment measures. We present a patient who was referred to our tertiary care medical center for treatment of suspected acute myeloid leukemia on the basis of peripheral smear and bone marrow biopsy findings, and induction chemotherapy was considered. Read More

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http://dx.doi.org/10.1080/08998280.2019.1641045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6793970PMC
October 2019
1 Read

Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness - a case report for dual diagnosis.

BMC Pediatr 2019 10 21;19(1):364. Epub 2019 Oct 21.

Center for Medical Genetics, Guangdong Women and Children Hospital, 521 Xingnandadao, Guangzhou, 511442, China.

Background: Phenotypic difference is general in Mendelian disease. Due to the extremely low incidence for a single disease, phenotype spectrum needs to be expanded. Meanwhile, earlier knowledge says patients who suffered from two kinds of different Mendelian disease are very rare. Read More

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http://dx.doi.org/10.1186/s12887-019-1733-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6802302PMC
October 2019
1 Read
1.918 Impact Factor

Atrophic Glossitis.

N Engl J Med 2019 Oct;381(16):1568

National University of Singapore, Singapore, Singapore

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http://dx.doi.org/10.1056/NEJMicm1902490DOI Listing
October 2019
1 Read

A Spectrum of Hematological Disorders in Children with Pancytopenia Based on Bone Marrow Examination in a Tertiary Care Hospital.

Cureus 2019 Jul 11;11(7):e5124. Epub 2019 Jul 11.

Surgery, Rawalpindi Medical University, Rawalpindi, PAK.

Introduction Pancytopenia is a common presentation in the pediatric population. It is a manifestation of various diseases, and its etiology can be explained on the basis of bone marrow examination. The study aims to determine the etiological factors leading to pancytopenia via bone marrow examination in pediatric patients presenting in our hospital. Read More

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http://dx.doi.org/10.7759/cureus.5124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6741365PMC
July 2019
4 Reads

[A Case of Suspected Nonparaneoplastic Autoimmune Panencephalitis with Widespread Multifocal Brain Lesions and Treatable Dementia Following Pernicious Anemia: A Seven Year Follow-Up Study].

Brain Nerve 2019 Sep;71(9):1003-1012

Department of Neurology, Saiseikai Matsusaka General Hospital.

We present a case of a 73-year-old female who developed subacute memory disturbance, reduced consciousness and quadriparesis following pernicious anemia. Brain magnetic resonance imagings (MRI) in diffusion weighted, T2 weighted and fluid attenuated inversion recovery (FLAIR) images revealed hyperintensities in bilateral frontal, parietal, temporal and occipital cortices, left thalamus, bilateral splenium of corpus callosum, and bilateral subcortical white matters. Brain gadolinium enhanced T1 weighted MRI revealed very slight post-contrast enhancement lesions in the right posterior temporal region and bilateral parietal regions. Read More

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http://dx.doi.org/10.11477/mf.1416201393DOI Listing
September 2019
5 Reads

Profound vitamin D deficiency in four siblings with Imerslund-Grasbeck syndrome with homozygous CUBN mutation.

JIMD Rep 2019 Sep 26;49(1):43-47. Epub 2019 Jul 26.

Metabolic Medicine Department Great Ormond Street Hospital for Children NHS Foundation Trust London UK.

Imerslund-Grasbeck syndrome (IGS, OMIM 261100) is a rare autosomal recessive disease characterized by vitamin B12 malabsorption resulting in megaloblastic anemia and asymptomatic proteinuria. IGS is caused by bi-allelic mutations in either CUBN or AMN that respectively encode the cubilin and amnionless subunits of the cobalamin-intrinsic factor receptor. We report four siblings (three boys, one girl) of non-consanguineous parents of Jewish background, aged 10 months to 12 years, with homozygous CUBN frameshift c. Read More

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http://dx.doi.org/10.1002/jmd2.12072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718117PMC
September 2019
2 Reads

A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM).

Clin Immunol 2019 11 5;208:108256. Epub 2019 Sep 5.

Department of Pediatrics, Faculty of Medicine, Graduate School of Medicine, Hokkaido University, Sapporo, Japan. Electronic address:

Hereditary folate malabsorption (HFM) is an autosomal recessive disease caused by mutations in SLC46A1 encoding the proton-coupled folate transporter (PCFT). HFM patients present with various clinical features including megaloblastic anemia, thrombocytopenia, combined immunodeficiency and neurodevelopmental disorders. In this study, we report the same deep intronic mutation of c. Read More

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http://dx.doi.org/10.1016/j.clim.2019.108256DOI Listing
November 2019
1 Read

Ask Mayo Expert: Anemia Workup in 1919.

Mayo Clin Proc 2019 09;94(9):1904

Mayo Clinic College of Medicine, Hospital Internal Medicine, Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1016/j.mayocp.2019.05.014DOI Listing
September 2019
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Pernicious Anemia Presenting as Non-ST-elevated Myocardial Infarction and Depression.

Cureus 2019 Jun 10;11(6):e4870. Epub 2019 Jun 10.

Internal Medicine, St. Francis Medical Center, Seton Hall University, Trenton, USA.

Pernicious anemia (PA) is a common cause of megaloblastic anemia throughout the world, especially in Northern European whites. This disease is characterized by the deficiency of vitamin B12 due to the presence of anti-intrinsic factor and anti-parietal cell antibodies which inhibit the absorption of the vitamin B12. In cases of severe vitamin B12 deficiency, patients can suffer debilitating complications such as described in our case. Read More

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http://dx.doi.org/10.7759/cureus.4870DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687429PMC
June 2019
2 Reads

Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.

Br J Haematol 2019 11 23;187(4):530-542. Epub 2019 Jul 23.

CHU de Bordeaux, Hôpital Pellegrin, Bordeaux, France.

Congenital sideroblastic anaemia (CSA) is a rare disease caused by germline mutations of genes involved in haem and iron-sulphur cluster formation, and mitochondrial protein biosynthesis. We performed a retrospective multicentre European study of a cohort of childhood-onset CSA patients to explore genotype/phenotype correlations. We studied 23 females and 20 males with symptoms of CSA. Read More

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http://dx.doi.org/10.1111/bjh.16100DOI Listing
November 2019
6 Reads

[IMERSLUND-GRÄSBECK SYNDROME CONGENITAL FORM OF VITAMIN B12 DEFICIENCY ANEMIA].

Georgian Med News 2019 May(290):45-48

Tbilisi State Medical University, Department of Children and Adolescents; I. Tsitsishvili New Children Clinic, Tbilisi, Georgia.

Normal red blood cells maturation depends on many different hematological factors, including vitamin (vit.) B12. Megaloblastic anemias are basically caused by vit. Read More

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May 2019
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Vegan Diet as a Neglected Cause of Severe Megaloblastic Anemia and Psychosis.

Am J Med 2019 12 12;132(12):e850-e851. Epub 2019 Jul 12.

Department of Hematology, Tenon Hospital (AP-HP), Paris, France.

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http://dx.doi.org/10.1016/j.amjmed.2019.06.025DOI Listing
December 2019
8 Reads