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Cureus Oct 2023Diabetes mellitus (DM) is the most common metabolic disease worldwide. Hence, the prevalence of the disease continues to increase across the globe. Metformin is used as... (Review)
Review
Diabetes mellitus (DM) is the most common metabolic disease worldwide. Hence, the prevalence of the disease continues to increase across the globe. Metformin is used as a first-line oral hypoglycemic drug to keep control of type-2 DM (T2DM) in adults. Diabetic patients on metformin have been largely seen to be suffering from a deficiency of vitamin B12. It is a water-soluble vitamin mainly obtained from animal food like meat. At the basic cell level, it acts as a cofactor for enzymes essential for DNA synthesis and neuroprotection. As a result, vitamin B12 deficiency can show clinical effects such as progressive demyelination, peripheral neuropathy and haematological abnormalities (such as macrocytic anaemia and neutrophil hypersegmentation). Various studies also show a relation between vitamin B12 insufficiency and metformin-treated T2DM patients as decreased absorption of vitamin B12. There could be a severe complication of vitamin B12 deficiency in T2DM patients. The use of proton pump inhibitors, gastric bypass surgery, older patients and patients with a higher red blood cell turnover are factors that hasten the depletion of vitamin B12 reserves in the liver. Methylmalonic acid and homocysteine levels can be measured to identify vitamin B12 insufficiency at its early stage if blood vitamin B12 levels are borderline. The action of metformin on vitamin B12 absorption and its potential mechanisms of inhibition will be the main topics of discussion in this review. The review will also discuss how vitamin B12 deficiencies in T2DM patients using metformin affect their clinical results.
PubMed: 38034222
DOI: 10.7759/cureus.47771 -
Cureus Oct 2023Red blood cells (RBCs) start to break down early in hemolytic anemia, which can be chronic or life-threatening. It should be considered while determining if normocytic... (Review)
Review
Red blood cells (RBCs) start to break down early in hemolytic anemia, which can be chronic or life-threatening. It should be considered while determining if normocytic or macrocytic anemia is present. Hemolysis in the reticuloendothelial system may happen intravascularly, extravascularly, or both. It accounts for a broad spectrum of laboratory and clinical situations, both physiological and pathological. Whenever the frequency of RBC breakdown is rapid enough to lower hemoglobin levels below the normal range, hemolytic anemia occurs. Microangiopathic hemolytic anemia (MAHA) is a term used to describe non-immune hemolysis induced by intravascular RBC fragmentation caused by substances in the tiny blood arteries that generate schistocytes in the peripheral circulation. Microvasculature abnormalities, such as small arterioles and capillaries, are usually involved. Furthermore, MAHA can also be brought on by intravascular devices like a prosthetic heart valve or assistive technologies. Poor deformity results in entrapment, phagocytosis, antibody-mediated elimination through phagocytosis or direct complement activation, fragmentation brought about by microthrombi or acute mechanical stress, oxidation, or spontaneous cellular death. Hemolysis may cause acute anemia, jaundice, hematuria, dyspnea, tiredness, tachycardia, and possibly hypotension. This article aims to synthesize existing research, identify therapeutic strategies, and provide insights into current and emerging approaches for managing this complex hematological disorder.
PubMed: 38021690
DOI: 10.7759/cureus.47196 -
Medicina (Kaunas, Lithuania) Nov 2023Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome associated with malformations. DBA is related to defective ribosome biogenesis, which impairs... (Review)
Review
Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome associated with malformations. DBA is related to defective ribosome biogenesis, which impairs erythropoiesis, causing hyporegenerative macrocytic anemia. The disease has an autosomal dominant inheritance and is commonly diagnosed in the first year of life, requiring continuous treatment. We present the case of a young woman who, at the age of 21, developed severe symptomatic anemia. Although, due to malformations, a congenital syndrome had been suspected since birth, a confirmation diagnosis was not made until the patient was referred to our center for an evaluation of her anemia. In her neonatal medical history, she presented with anemia that required red blood cell transfusions, but afterwards remained with a stable, mild, asymptomatic anemia throughout her childhood and adolescence. Her family history was otherwise unremarkable. To explain the symptomatic anemia, vitamin deficiencies, autoimmune diseases, bleeding causes, and myeloid and lymphoid neoplasms were investigated and ruled out. A molecular investigation showed the RPL5 gene variant c.392dup, p.(Asn131Lysfs*6), confirming the diagnosis of DBA. All family members have normal blood values and none harbored the mutation. Here, we will discuss the unusual evolution of this case and revisit the literature.
Topics: Humans; Young Adult; Infant, Newborn; Female; Adolescent; Child; Frameshift Mutation; Ribosomal Proteins; Mutation; Anemia, Diamond-Blackfan; Phenotype
PubMed: 38004002
DOI: 10.3390/medicina59111953 -
Tanaffos Jan 2023Cystic fibrosis is a chronic and progressive genetic disease with a worldwide prevalence. As the disease progresses, symptoms develop, and make its management more...
BACKGROUND
Cystic fibrosis is a chronic and progressive genetic disease with a worldwide prevalence. As the disease progresses, symptoms develop, and make its management more challenging. Accumulating evidence suggests that early diagnosis of CF can significantly contribute to preventing reported nutritional problems including anemia, vitamin deficiencies, and hypoalbuminemia. This cross-sectional study was conducted to assess disease severity in cystic fibrosis patients using the Shwachman-Kulczycki score, as well as to determine its relation with anemia and vitamin D deficiency.
MATERIALS AND METHODS
Clinical and CF-related laboratory data were collected from the medical records of 57 CF patients with a definitive diagnosis. At the time of diagnosis, physicians performed simultaneous, blood sampling and scoring of patients using the Shwachman scoring system.
RESULTS
The mean age of patients was 16.12±6.48 years. Total scores of 86-100, 71-85, 56-70, 41-55, and <40, were reported in 5.4%, 7.1%, 14.3%, 14.3%, and 58.9% of CF patients, respectively. A significant correlation was found between disease severity and patients' age (P=0.02). The analysis also showed that the disease severity was significantly higher in anemic patients when compared to non-anemics (p =0.006). Based on the results, 33 patients with normochromic, 11 patients with microcytic, and 6 patients with macrocytic anemia were diagnosed in this study. We did not find a significant difference between disease severity and vitamin D levels (P=0.150).
CONCLUSION
The scoring system used in the current study could reflect properly the clinical status of CF patients. However, simultaneous use of various methods using a larger sample size for comparison of results is suggested to improve the accuracy of findings.
PubMed: 37920324
DOI: No ID Found -
Role of Cytokine-Inducible SH2 Domain-Containing (CISH) Protein in the Regulation of Erythropoiesis.Biomolecules Oct 2023The cytokine-inducible SH2 domain-containing (CISH) protein was the first member of the suppressor of cytokine signaling (SOCS) family of negative feedback regulators...
The cytokine-inducible SH2 domain-containing (CISH) protein was the first member of the suppressor of cytokine signaling (SOCS) family of negative feedback regulators discovered, being identified in vitro as an inducible inhibitor of erythropoietin (EPO) signaling. However, understanding of the physiological role played by CISH in erythropoiesis has remained limited. To directly assess the function of CISH in this context, mice deficient in CISH were characterized with respect to developmental, steady-state, and EPO-induced erythropoiesis. was strongly expressed in the fetal liver, but CISH knockout (KO) mice showed only minor disruption of primitive erythropoiesis. However, adults exhibited mild macrocytic anemia coincident with subtle perturbation particularly of bone marrow erythropoiesis, with EPO-induced erythropoiesis blunted in the bone marrow of KO mice but enhanced in the spleen. was expressed basally in the bone marrow with induction following EPO stimulation in bone marrow and spleen. Overall, this study indicates that CISH participates in the control of both basal and EPO-induced erythropoiesis in vivo.
Topics: Animals; Mice; Anemia; Cytokines; Erythropoiesis; Signal Transduction; src Homology Domains; Suppressor of Cytokine Signaling Proteins
PubMed: 37892192
DOI: 10.3390/biom13101510 -
Medical & Biological Engineering &... Feb 2024The photoacoustic effect is an attractive tool for diagnosis in several biomedical applications. Analyzing photoacoustic signals, however, is challenging to provide...
The photoacoustic effect is an attractive tool for diagnosis in several biomedical applications. Analyzing photoacoustic signals, however, is challenging to provide qualitative results in an automated way. In this work, we introduce a dynamic modeling scheme of photoacoustic sensor data to classify blood samples according to their physiological status. Thirty-five whole human blood samples were studied with a state-space model estimated by a subspace method. Furthermore, the samples are classified using the model parameters and the linear discriminant analysis algorithm. The classification performance is compared with time- and frequency-domain features and an autoregressive-moving-average model. As a result, the proposed analysis can predict five blood classes: healthy women and men, microcytic and macrocytic anemia, and leukemia. Our findings indicate that the proposed method outperforms conventional signal processing techniques to analyze photoacoustic data for medical diagnosis. Hence, the method is a promising tool in point-of-care devices to detect hematological diseases in clinical scenarios.
Topics: Male; Humans; Female; Signal Processing, Computer-Assisted; Spectrum Analysis; Photoacoustic Techniques
PubMed: 37880558
DOI: 10.1007/s11517-023-02939-3 -
Tijdschrift Voor Psychiatrie 2023In this case study we describe a man who came to a mental health care centre (MHCC) with difficult to interpret complaints such as loss of fear and empathy, apathy and...
In this case study we describe a man who came to a mental health care centre (MHCC) with difficult to interpret complaints such as loss of fear and empathy, apathy and cognitive symptoms. In addition, he experienced a pronounced fatigue. Later he suffered from cold extremities, bilateral hypoesthesia of the hands and paresthesias of the legs. Routine laboratory tests initially showed no abnormalities. Only later a decreased hemoglobin and vitamin B12 value was seen in the context of a pernicious anemia. A treatment with vitamin B12 supplementation was started, after which gradual improvement of the symptoms was seen. This case study shows that vitamin B12 deficiency can result in both psychiatric and cognitive symptoms including memory and attention problems. The initial presentation of pernicious anemia can involve only psychiatric symptoms before neurological and hematological symptoms are present and before anemia is objectively diagnosed.
Topics: Male; Humans; Anemia, Pernicious; Apathy; Vitamin B 12; Vitamin B 12 Deficiency; Empathy
PubMed: 37755933
DOI: No ID Found -
Cureus Aug 2023Isolated thrombocytopenia in adults is a common clinical problem, often caused by various hematological disorders. However, vitamin B12 deficiency as a rare cause of...
Isolated thrombocytopenia in adults is a common clinical problem, often caused by various hematological disorders. However, vitamin B12 deficiency as a rare cause of isolated thrombocytopenia has been rarely reported in the medical literature. This case report aims to highlight the diagnostic challenges associated with atypical presentations of thrombocytopenia and emphasizes the importance of considering nutritional deficiencies, such as vitamin B12 deficiency, in the diagnostic workup. We report the case of a 38-year-old male who presented with generalized weakness, fatigue, and a history of bruises without trauma. Physical examination and laboratory investigations revealed thrombocytopenia (42 K/µL) with normal red blood cell morphology and no apparent abnormalities in other hematological parameters. Serum vitamin B12 levels were significantly diminished (128 pg/ml). The patient was treated with subcutaneous mecobalamin 1000 mcg supplementation, resulting in improvements in serum vitamin B12 levels (772 pg/ml) and platelet count (154 × 10/L) values. This case highlights the importance of considering vitamin B12 deficiency as a potential cause of isolated thrombocytopenia in adults. The lack of hypersegmented neutrophils and characteristic signs of macrocytic anemia in the context of vitamin B12 deficiency emphasizes the necessity for a thorough investigation to rule out other possible causes. Hematological problems associated with thrombocytopenia caused by vitamin B12 deficiency can be treated early to resolve them and avoid complications.
PubMed: 37753039
DOI: 10.7759/cureus.44162 -
Cureus Aug 2023Vitamin B12 (cobalamin) deficiency is a commonly seen nutritional deficiency that presents with a broad spectrum of clinical symptoms. In this report, we describe a case...
Vitamin B12 (cobalamin) deficiency is a commonly seen nutritional deficiency that presents with a broad spectrum of clinical symptoms. In this report, we describe a case of a 49-year-old female patient who presented to the emergency department with sudden onset of a syncopal-like episode, generalized weakness, and severe pancytopenia, who was subsequently diagnosed with vitamin B12 deficiency upon admission. The patient underwent a thorough evaluation to exclude alternative etiologies for her presentation. Her clinical symptoms and blood count significantly improved after six days of treatment with vitamin B12 supplementation. While vitamin B12 deficiency is a commonly recognized issue, healthcare providers should be aware of its infrequent presentations. Our case serves as a reminder to clinicians to remain vigilant for acute onset manifestations and consider vitamin B12 deficiency as a differential diagnosis for the early management of pancytopenia.
PubMed: 37746468
DOI: 10.7759/cureus.44017 -
Orphanet Journal of Rare Diseases Sep 2023Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by vitamin B12 malabsorption. Most patients present with non-specific symptoms... (Review)
Review
Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by vitamin B12 malabsorption. Most patients present with non-specific symptoms attributed to vitamin B12 deficiency, and proteinuria. Patients may if untreated, develop severe neurocognitive manifestations. If recognized and treated with sufficient doses of vitamin B12, patients recover completely. We provide, for the first time, an overview of all previously reported cases of IGS. In addition, we provide a complete review of IGS and describe two new patients.
Topics: Humans; Vitamin B 12 Deficiency; Anemia, Megaloblastic; Proteinuria; Vitamin B 12
PubMed: 37710296
DOI: 10.1186/s13023-023-02889-x