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Intern Med J 2021 May 5. Epub 2021 May 5.

Department of Endocrinology, Metabolism and Internal Medicine, Poznań University of Medical Sciences, 49 Przybyszewskiego, 60-355, Poznań, Poland.

Background: Autoimmunity accounts for 90% of cases of primary adrenal insufficiency (Addison's disease, AD). Affected persons present a significant co-occurrence of autoimmune conditions, hence, clustering of autoimmunity is also predicted among their relatives.

Aims: The aim of our study was to evaluate the burden of autoimmunity in families of people with AD. Read More

Am J Case Rep 2021 Apr 23;22:e930705. Epub 2021 Apr 23.

Hematology and Medical Oncology Unit, Department of Internal Medicine, Dr. Soetomo General Academic Hospital - Faculty of Medicine Airlangga University, Surabaya, Indonesia.

BACKGROUND Atypical manifestations of Graves' disease (GD) such as anemia have been noticed in the last decades. Anemia is present in up to 34% of patients with GD, yielding various anemia types such as GD anemia, pernicious anemia, iron deficiency anemia, and autoimmune hemolytic anemia (AIHA). So far, AIHA is the rarest manifestation of anemia in GD. Read More

BMJ Case Rep 2021 Apr 12;14(4). Epub 2021 Apr 12.

Bloodless Medicine and Surgery Program, MedStar Georgetown University Hospital, Washington, DC, USA.

Severe anaemia in patients who cannot receive blood transfusion is an indication for the use of hyperbaric oxygen therapy (HBO). Most reports of the use of HBO for anaemia involve patients with acute blood loss. This report details a case of HBO used for a patient with severe pernicious anaemia. Read More

Cureus 2021 Mar 1;13(3):e13630. Epub 2021 Mar 1.

Hematology/Oncology, Mercy Catholic Medical Center, Darby, USA.

Gastric cancer is one of the most common malignancies, often detected at later stages as patients remain asymptomatic until later stages. Pernicious anemia (PA), a well-known cause of vitamin B12 deficiency, is a classic risk factor for gastric cancer. Patients with PA usually present with megaloblastic anemia and peripheral neuropathy; however, they can also present with nonspecific symptoms. Read More

Acute Med 2021 ;20(1):68-73

Northumbria Healthcare NHS Foundation Trust.

A 30-year-old female patient with a past medical history of pernicious anaemia presented with pleuritic chest pain, palpitations, fatigue, coryzal symptoms and a high temperature. She was hypoxic and tachycardic and was extensively investigated as well as aggressively treated. A type 1 'gut feeling' assessment by the admitting medical registrar made the diagnosis possible as thyroid function tests were grossly deranged and pointed to Graves' disease causing heart failure, complicated by pneumonia. Read More

J Gen Intern Med 2021 Feb 23. Epub 2021 Feb 23.

John W. Deming Department of Medicine, Tulane University School of Medicine, New Orleans, LA, USA.

BMC Rheumatol 2021 Feb 12;5(1). Epub 2021 Feb 12.

Department of Internal Medicine, WellStar Atlanta Medical Center, Atlanta, GA, USA.

Background: Low dose methotrexate toxicity rarely occurs, but may present with severe complications, such as pancytopenia, hepatotoxicity, mucositis, and pneumonitis. Known risk factors for methotrexate toxicity include dosing errors, metabolic syndrome, hypoalbuminemia, renal dysfunction, lack of folate supplementation, and the concomitant use of drugs that interfere with methotrexate metabolism. Vitamin B12 deficiency leads to megaloblastic anemia and may cause pancytopenia, but its role in methotrexate toxicity has not been described. Read More

CEN Case Rep 2021 Feb 6. Epub 2021 Feb 6.

Nephrology Division, Department of Internal Medicine, JA Toride Medical Center, 2-1-1 Hongo, Toride, Ibaraki, 302-0022, Japan.

Predominant tubulointerstitial nephritis with negligible glomerular lesions is a rare form of lupus nephritis. Although tubulointerstitial changes occur in two-thirds of patients with lupus nephritis, these lesions were mostly accompanied by glomerulonephritis. Predominant tubulointerstitial lupus nephritis has been reported to be only 13 cases in the literature as far as we surveyed. Read More

Autoimmune Dis 2021 12;2021:8815297. Epub 2021 Jan 12.

Center for Primary Health Care Research, Lund University, Malmö, Sweden.

Background: Pernicious anemia (PA) is an autoimmune disease (AID) which is caused by lack of vitamin B12 (cobalamin) due to its impaired uptake. PA is a multifactorial disease which is associated with a number of other AID comorbidities and which is manifested as part of autoimmune polyglandular syndrome. Due to the shortage of family studies on PA, we planned to address the problem by assessing familial risks for concordant PA between family members and for discordant PA in families of other AID patients. Read More

J Dent Sci 2020 Dec 12;15(4):558-559. Epub 2020 Jun 12.

Department of Dentistry, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien, Taiwan.

BMJ Case Rep 2021 Jan 25;14(1). Epub 2021 Jan 25.

Neurology, Institute of Postgraduate Medical Education and Research, Bangur Institute of Neurosciences, Kolkata, West Bengal, India.

A 42-year-old man from rural India presented with asymmetric progressive paraparesis mimicking compressive dorsal myelopathy, followed by distal upper limb, truncal and neck-flexor weakness, further complicated by acute urinary retention. His sensory deficits were marked by loss of joint position sense (JPS) and graded loss of vibration sense, along with a definite sensory level. Deep tendon jerks were hypo-to-areflexic, plantar was bilaterally extensor. Read More

Nutrients 2021 Jan 13;13(1). Epub 2021 Jan 13.

Department of Medical-Surgical Sciences and Translational Medicine, Sant'Andrea Hospital, University Sapienza, 00189 Rome, Italy.

Micronutrient deficiencies are relatively common, in particular iron and cobalamin deficiency, and may potentially lead to life-threatening clinical consequences when not promptly recognized and treated, especially in elderly patients. The stomach plays an important role in the homeostasis of some important hematopoietic micronutrients like iron and cobalamin, and probably in others equally important such as ascorbic acid, calcium, and magnesium. A key role is played by the corpus oxyntic mucosa composed of parietal cells whose main function is gastric acid secretion and intrinsic factor production. Read More

SAGE Open Med Case Rep 2020 14;8:2050313X20979207. Epub 2020 Dec 14.

Division of Dermatology, Harbor-UCLA Medical Center, Torrance, CA, USA.

Reversible cutaneous hyperpigmentation often occurs in the setting of nutritional deficiencies and protein energy malnourishment, with atypical presentations arising from autoimmune disease. Here, we present a 52-year-old female with hypertension, type 1 diabetes, and Hashimoto's thyroiditis, under the diagnosis of polyglandular autoimmune syndrome type II, referred for evaluation of asymptomatic hyperpigmentation of the palms, soles, hard palate, and tongue for 6 months. The patient underwent a significant work-up, including esophagogastroduodenoscopy, which revealed hypertrophic gastropathy as well as evidence of acquired B12 deficiency secondary to pernicious anemia. Read More

Int J Surg Case Rep 2020 12;77:498-502. Epub 2020 Nov 12.

Department of Surgery, Hospital de Clínicas Municipal José Alencar, Sao Bernardo do Campo, Brazil.

Introduction: Ménétrier's disease is a rare condition, frequently associated with Helicobacter pylori infection, hypergastrinemia and hypoalbuminaemia.

Presentation Of The Case: A case of a 55 years-old female patient with a previous diagnosis of pernicious anemia complaining of epigastric discomfort, hyporexia, vomiting, and weight loss is reported. Endoscopy showed multiple gastric polyploid formations and Helicobacter pylori infection was detected. Read More

Pol Merkur Lekarski 2020 Dec;48(288):446-448

Department of Nephrology, Transplantology and Internal Medicine, Pomeranian Medical University, Szczecin, Poland.

Vitamin B12 deficiency anaemia in adults is usually caused by Addison- Biermer's disease. The presence of antibodies against gastric parietal cells and intrinsic factor (IF) in blood is typical for the disease. The gastrointestinal malabsorption or a diet poor in vitamin B12 are rarer causes. Read More

Endocr Metab Immune Disord Drug Targets 2020 Dec 22. Epub 2020 Dec 22.

Department of Biomedical Science and Human Oncology, Section of Internal Medicine and Clinical Oncology University of Bari Medical School, Bari. Italy.

Vitamins are essential substances for normal cell functions, growth, and development. However, they cannot be produced by the human organism, so intake must be through the diet. Vitamin deficiency causes the onset of different diseases, ranging from pellagra to pernicious anemia, which can be corrected by reintroducing the missing vitamin form. Read More

J Clin Med 2020 Dec 16;9(12). Epub 2020 Dec 16.

Department of Internal Medicine, Angers University Hospital, 4 Rue Larrey, 49000 Angers, France.

Descriptive and retrospective studies without control groups have suggested a possible association between primary Sjögren's syndrome (pSS) and vitamin B12 (B12) deficiency. This is of importance because several mucosal and neurological features are common to these two conditions and could be prevented or reversed in case of B12 deficiency. We aimed to evaluate the association between pSS and B12 deficiency. Read More

F1000Res 2020 15;9:604. Epub 2020 Jun 15.

Cancer Center of Kansas, Wichita, KS, 67214, USA.

Primary gastric cancer remains one of the most prevalent malignancies worldwide. Often patients remain asymptomatic until it is detected at an advanced stage with a poor prognosis. Thus, it's characteristically difficult to initially diagnose until it becomes late stage, at which point prognosis becomes poor. Read More

J Patient Exp 2020 Oct 26;7(5):766-770. Epub 2019 Nov 26.

Department of Applied Psychology, Cardiff School of Sport and Health Sciences, Cardiff Metropolitan University, Wales, United Kingdom.

Objectives: Pernicious anemia (PA) is a chronic condition caused by vitamin B12 deficiency. This is a qualitative study using interpretative phenomenological analysis (IPA), which aimed to explore the patients lived experience of diagnosis and treatment.

Methods: Eleven semistructured interviews were conducted in PA patients; these covered participants' diagnostic and treatment journeys, the responses of others to their diagnosis, and the role health professionals have played in their medical care. Read More

Pediatr Infect Dis J 2021 01;40(1):66-69

From the Department of Pediatrics, Division of Pediatric Immunology, Hacettepe University Medical School, Ankara, Turkey.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) (polyglandular endocrinopathy type 1) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE). The major clinical features of APECED are hypoparathyroidism, adrenal insufficiency (Addison disease), and chronic mucocutaneous candidiasis. This disease is also associated with multiple other and uncommon autoimmune (autoimmune hepatitis, autoimmune enteropathy, atrophic gastritis with or without pernicious anemia, gonadal failure, diabetes mellitus, hypothyroidism, functional hyposplenism), ectodermal (alopecia and vitiligo), and inflammatory (intestinal lung disease, nephritis) features. Read More

Nutr Hosp 2020 Dec;37(6):1285-1288

UGC Pediatría. Hospital Materno-Infantil. Hospital Regional Universitario de Málaga.

Introduction: Introduction: the vitamin cobalamin is essential for a proper functioning of the CNS, hematopoiesis, and DNA synthesis. Its deficiency is frequently secondary to pernicious anemia or strict vegetarian diets. Case report: an 18-month-old male infant presented with a decreased level of consciousness and movement disorder (tremor and choreiform movements) of several hours' standing. Read More

Health Expect 2021 Feb 12;24(1):87-94. Epub 2020 Nov 12.

NIHR Greater Manchester Patient Safety Translational Research Centre, University of Manchester, Manchester, UK.

Background: Patient and public involvement and engagement (PPIE) is recognized as important for improved quality in health service provision and research. Vitamin B12 deficiency is one area where PPIE has potential to benefit patients, as patients often report sub-optimal care due to diagnostic delay, insufficient treatment and poor relationships with health professionals.

Objective: In an effort to engage an understudied patient population in health-care quality and safety discussions, and provide patients with an opportunity to have a voice, contribute to research priorities and express their current quality and safety concerns, we hosted a PPIE workshop. Read More

BMC Med Genet 2020 11 10;21(1):221. Epub 2020 Nov 10.

Department of Hematology, Peking Union Medical College, Hospital, Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Dongcheng District, Beijing, 100730, China.

Background: Hereditary intrinsic factor deficiency is a rare disease characterized by cobalamin deficiency with the lack of gastric intrinsic factor because of gastric intrinsic factor (GIF) mutations. Patients usually present with cobalamin deficiency without gastroscopy abnormality and intrinsic factor antibodies.

Case Presentation: A Chinese patient presented with recurrent severe anemia since age 2 with low cobalamin level and a mild elevation of indirect bilirubin. Read More

Cureus 2020 Oct 5;12(10):e10797. Epub 2020 Oct 5.

Department of Hematology, Universidad de Antioquia, Medellin, COL.

Pernicious anemia (PA) is associated with other autoimmune diseases, such as hypothyroidism, type 1 diabetes mellitus (DM1), Addison's disease, and vitiligo. The association between PA and autoimmune hemolytic anemia (AIHA) is rare, with less than 30 cases reported in the literature. In this paper, we report a case of a patient with a confirmed diagnosis of PA, who, six months after starting treatment with cyanocobalamin, presented with severe hemolysis with a positive direct antiglobulin test (DAT) for warm antibodies; the patient responded well to glucocorticoid treatment. Read More

Cureus 2020 Oct 19;12(10):e11041. Epub 2020 Oct 19.

Division of Neurology, Vidant Medical Center/East Carolina University, Greenville, USA.

Subacute combined degeneration (SCD) is caused by demyelination of spinal cord white matter secondary to vitamin B12 (cobalamin) deficiency leading to core symptoms of spastic paresis and vibratory and proprioceptive deficits. Most common causes of B12 deficiency revolve around malabsorption and pernicious anemia; however, nitrous oxide (N2O) can also indirectly cause B12 deficiency by inactivating its biologically active form. We report a case of a patient who took advantage of the unregulated N2O market and presented with signs and symptoms of SCD secondary to N2O abuse. Read More

Haematologica 2020 11 1;105(11):2497. Epub 2020 Nov 1.

Ferrata-Storti Foundation, Pavia, Italy.

Immunohematology 2020 Sep;36(3):89-92

Hematology and Transfusion Medicine Department, Hospital Universitari I Politècnic La Fe.

Conclusions: We report a case of pernicious anemia in which the first diagnosis suspicion was cold autoimmune hemolytic anemia (cAIHA) due to the presence of cold autoantibodies. A 47-year-old woman with a medical history of autoimmune thyroid disease came to the hospital with a clinical and serologic presentation of AIHA. However, because of determination of vitamin B12 (VB12) deficiency, she was finally diagnosed with megaloblastic anemia. Read More

Proc (Bayl Univ Med Cent) 2020 Jul 13;33(4):689-692. Epub 2020 Jul 13.

Departments of Oncology and Internal Medicine, Baylor University Medical Center, Baylor Charles A. Sammons Cancer Center, Dallas, Texas and School of Arts and Humanities, University of Texas at Dallas.

William Osler died on December 29, 1919, at the age of 70. Less than 1 year later, Frederick Grant Banting began a research project at the University of Toronto to find a treatment for diabetes mellitus. John James Rickard Macleod, director of physiology, gave him space, funding, and supplies. Read More

J Int Med Res 2020 Oct;48(10):300060520961684

Department of Emergency, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.

Autoimmune polyglandular syndrome (APS) is a rare disease that is characterized by autoimmune reactions to multiple endocrine and non-endocrine organs, which can be divided into four main types. The principal manifestations of APS-3 are autoimmune thyroid disease and other autoimmune diseases, such as type 1 diabetes, atrophic gastritis, pernicious anemia, vitiligo, alopecia, and myasthenia gravis, but not Addison's disease or hypoparathyroidism. Here we report a case demonstrating the rare coexistence of growth hormone deficiency and hyperthyroidism with sexual dysgenesis, secondary amenorrhea, cardiomegaly, splenomegaly, hypoproteinemia, pleural effusion, seroperitoneum, pericardial effusion, anasarca, osteoporosis, vitamin D deficiency, iron-deficiency anemia, poor blood coagulation, leucocytopenia, peripheral neuropathy, hyperuricemia, ichthyosis, tinea cruris, and onychomycosis. Read More