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BMJ Case Reports Apr 2024Vitamin B is required for the formation of haematopoietic cells and the synthesis of myelin. Deficiency typically presents with fatigue and megaloblastic anaemia....
Vitamin B is required for the formation of haematopoietic cells and the synthesis of myelin. Deficiency typically presents with fatigue and megaloblastic anaemia. Prolonged deficiency can cause neurological symptoms such as paresthesia, which can progress to subacute combined degeneration of the spinal cord. We describe an unusual presentation of B deficiency in a young man who was initially diagnosed and treated for cervical radiculopathy. This case highlights the challenges of diagnosing B deficiency in patients with neurologic but without haematologic, abnormalities. While the current incidence of B deficiency in developed countries is low, cases are likely to rise with the increased adoption of veganism. Clinicians should be aware of the variable presentations of B deficiency because delayed diagnosis and treatment increases morbidity and can cause irreversible neurological deficits.
Topics: Adult; Humans; Male; Cervical Vertebrae; Diagnosis, Differential; Neck Pain; Radiculopathy; Vitamin B 12; Vitamin B 12 Deficiency
PubMed: 38663893
DOI: 10.1136/bcr-2024-259696 -
Veterinary Clinical Pathology Jun 2024A 6-year-old spayed female Scottish Fold cat presented with lethargy and anorexia. A complete blood cell count indicated severe anemia and mild thrombocytopenia....
A 6-year-old spayed female Scottish Fold cat presented with lethargy and anorexia. A complete blood cell count indicated severe anemia and mild thrombocytopenia. Examination of peripheral blood smears revealed marked changes in the erythroid lineage, including the presence of basophilic stippling and Howell-Jolly bodies as well as an increase in nucleated erythrocytes, polychromatophils, ovalocytes, and schistocytes. Additionally, some erythrocytes contained a ring or figure-eight shaped structure known as a Cabot ring, which were especially observed in polychromatophilic erythrocytes. Hemolytic diseases (Mycoplasma infection and IMHA) were diagnostically excluded, and the cat was treated through prednisolone administration, whole blood transfusion, and administration of vitamins (K2 and B12); however, the anemia progressively worsened. Cabot rings were observed until Day 22 and subsequently disappeared as the number of nucleated RBCs increased, and the erythrocyte lineage shifted to immature population. On Day 42, peripheral blood examination revealed further left shifting and appearance of many rubriblasts. The patient died at home on Day 43. Necropsy revealed neoplastic cells infiltrating the bone marrow and other organs, which were immunopositive to CD71 which is an erythroid lineage marker. In humans, Cabot rings have been observed in megaloblastic anemia, lead poisoning, myelodysplastic syndrome, and myelofibrosis; further, they are thought to be related to stressed bone marrow and dyserythropoiesis. This is the first case report of a cat with Cabot rings, which are suggestive of defects in erythroid lineage production.
Topics: Cats; Female; Cat Diseases; Animals; Myeloproliferative Disorders; Fatal Outcome; Erythrocytes, Abnormal; Anemia; Erythrocytes
PubMed: 38641552
DOI: 10.1111/vcp.13340 -
European Archives of Psychiatry and... Apr 2024Nitrous oxide (N2O) has been known since the end of the eighteenth century. Today, N2O plays a huge role as a greenhouse gas and an ozone-depleting stratospheric... (Review)
Review
Nitrous oxide (N2O) has been known since the end of the eighteenth century. Today, N2O plays a huge role as a greenhouse gas and an ozone-depleting stratospheric molecule. The main sources of anthropogenic N2O emissions are agriculture, fuel combustion, wastewater treatment, and various industrial processes. By contrast, the contribution of medical N2O to the greenhouse effect appears to be small. The recreational and medical uses of N2O gradually diverged over time. N2O has analgesic and anesthetic effects, making it widely used in modern dentistry and surgery. New research has also begun studying N2O's antidepressant actions. N-methyl-D-aspartate (NMDA) antagonism and opioid effects are believed to be the main underlying biochemical mechanisms. At this point, numerous questions remain open and, in particular, the conduct of larger clinical trials will be essential to confirm N2O's use as a rapid-acting antidepressant. The N2O concentration delivered, the duration of a single inhalation, as well as the number of inhalations ultimately required, deserve to be better understood. Finally, the non-medical use of N2O has gained significant attention in recent years. Sudden deaths directly attributed to N2O are primarily due to asphyxia. Heavy, chronic N2O use may result in vitamin B12 deficiency, which, among other things, may cause megaloblastic anemia, venous thrombosis, myeloneuropathy, and skin pigmentation. Helpful biochemical tests include homocysteine and methylmalonic acid. The centerpiece of treatment is complete cessation of N2O use together with parenteral administration of vitamin B12.
PubMed: 38613686
DOI: 10.1007/s00406-024-01801-3 -
European Journal of Haematology Jul 2024Having a haematological condition can adversely affect the quality of life (QoL) of family members/partners of patients. It is important to measure this often ignored...
Measurement of the major ignored burden of multiple myeloma, pernicious anaemia and of other haematological conditions on partners and family members: A cross-sectional study.
BACKGROUND
Having a haematological condition can adversely affect the quality of life (QoL) of family members/partners of patients. It is important to measure this often ignored burden in order to implement appropriate supportive interventions.
OBJECTIVE
To measure current impact of haematological conditions on the QoL of family members/partners of patients, using the Family Reported Outcome Measure-16 (FROM-16).
METHODS
A cross-sectional study, recruited online through patient support groups, involved UK family members/partners of people with haematological conditions completing the FROM-16.
RESULTS
183 family members/partners (mean age = 60.5 years, SD = 13.2; females = 62.8%) of patients (mean age = 64.1, SD = 12.8; females = 46.4%) with 12 haematological conditions completed the FROM-16. The FROM-16 mean total score was 14.0 (SD = 7.2), meaning 'a moderate effect on QoL'. The mean FROM-16 scores of family members of people with multiple myeloma (mean = 15.8, SD = 6.3, n = 99) and other haematological malignancies (mean = 13.9, SD = 7.8, n = 29) were higher than of people with pernicious anaemia (mean = 10.7, SD = 7.5, n = 47) and other non-malignant conditions (mean = 11, SD = 7.4, n = 56, p < .01). Over one third (36.1%, n = 183) of family members experienced a 'very large effect' (FROM-16 score>16) on their quality of life.
CONCLUSIONS
Haematological conditions, in particular those of malignant type, impact the QoL of family members/partners of patients. Healthcare professionals can now, using FROM-16, identify those most affected and should consider how to provide appropriate holistic support within routine practice.
Topics: Humans; Multiple Myeloma; Male; Cross-Sectional Studies; Female; Quality of Life; Middle Aged; Family; Aged; Anemia, Pernicious; Cost of Illness; Surveys and Questionnaires; Adult; Hematologic Diseases
PubMed: 38577720
DOI: 10.1111/ejh.14206 -
Clinical Nutrition (Edinburgh, Scotland) Apr 2024While vitamin B12 (B12) deficiency is considered as the hallmark of pernicious anemia (PA), iron deficiency (ID) is also prevalent. Indeed, this auto immune gastritis is...
BACKGROUND & AIMS
While vitamin B12 (B12) deficiency is considered as the hallmark of pernicious anemia (PA), iron deficiency (ID) is also prevalent. Indeed, this auto immune gastritis is responsible for parietal cell atrophy and increase in gastric pH, leading to impaired iron absorption. We compared PA patients' features according to their iron status at PA diagnosis, and we assessed the iron status recovery after oral or intravenous iron supplementation.
METHODS
We prospectively included patients presenting with a newly diagnosed PA in a tertiary referral hospital between November 2018 and October 2020. Iron status was assessed at PA diagnosis then regularly during a standardized follow-up. In case of ID, the decision of treatment with oral and/or intravenous iron supplementation was left to the clinician convenience.
RESULTS
We included 28 patients with newly diagnosed PA. ID was observed in 21/28 (75.0%) patients: from the PA diagnosis in 13 patients, or during the follow-up in 8 patients. Iron deficient PA patients had higher plasma B12 (p = 0.04) and lower homocysteine levels (p = 0.04). Also, ID was independently associated with the 'APCA (anti-parietal cell antibodies) alone' immunological status (absence of anti-intrinsic factor antibodies) after adjustment for age, gender and B12 level (aOR 12.1 [1.1-141.8], p = 0.04). High level of APCA was associated with lower ferritin level. After 3 months of supplementation, 3/11 PA patients normalized the iron status with oral iron supplementation, versus 7/8 with intravenous iron supplementation (p = 0.02).
CONCLUSION
The high frequency of iron deficiency in PA highlights the interest of regular assessment of iron status in this condition. ID was associated with a profile including APCA alone and less pronounced B12 deficiency. Intravenous iron supplementation seemed to be more efficient than an oral supplementation in these preliminary data.
Topics: Humans; Anemia, Pernicious; Iron; Vitamin B 12 Deficiency; Preliminary Data; Vitamin B 12; Iron Deficiencies; Autoantibodies; Dietary Supplements
PubMed: 38527394
DOI: 10.1016/j.clnu.2024.03.011 -
International Journal of Hematology May 2024Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by a lack of behavioral flexibility and stereotyped language. Food selectivity is common...
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by a lack of behavioral flexibility and stereotyped language. Food selectivity is common among children with ASD because of their persnickety nature. A prolonged unbalanced diet results in an increased risk of several diseases, such as iron deficiency anemia, scurvy, rickets, dry eye, and Wernicke encephalopathy. However, no cases of megaloblastic anemia have been reported to date. We report the case of an 11-year-old boy with ASD who developed megaloblastic anemia due to vitamin B12 deficiency. He had a prolonged history of selective eating for more than 10 years. His nutritional status on admission was poor, and he had low weight and short stature. His food selectivity was so strong that intervention to expand diet variety was unsuccessful. A developmental-behavioral pediatrician found that the patient had visual dominance and could take some medications when suffering from a minor illness. Nutritional supplements were selected after consultation with a nutritionist. Although compulsory treatment was necessary during the acute phase, the therapy was continued at home. With multidisciplinary intervention tailored to the patient and his parents' characteristics, his nutritional status improved in a few months.
Topics: Humans; Male; Child; Anemia, Megaloblastic; Autism Spectrum Disorder; Vitamin B 12 Deficiency; Diet; Dietary Supplements
PubMed: 38526684
DOI: 10.1007/s12185-024-03759-3 -
Cureus Feb 2024Objective The objectives of this study were to determine the frequency of the clinical spectrum of diseases in patients with macrocytosis and to summarize the diagnostic...
Objective The objectives of this study were to determine the frequency of the clinical spectrum of diseases in patients with macrocytosis and to summarize the diagnostic evaluation of patients found to have macrocytosis on laboratory testing. Background This was a cross-sectional study that took place at the Department of Medicine in Combined Military Hospital, Rawalpindi, Pakistan, from January to June 2023. Methodology One hundred and five patients with macrocytosis with mean corpuscular volume (MCV) values > 100 fL (80 to 100 fL) were inducted as per inclusion and exclusion criteria. Informed consent was obtained from all patients. Complete blood counts (CBC), peripheral blood film, serum vitamin B12 levels, serum folate levels, renal function tests (RFTs), liver function tests (LFTs), and thyroid function tests (TFTs) were performed during the assessment. Results The commonest cause of macrocytosis was vitamin B12 deficiency followed by folate deficiency, combined vitamin B12 and folate deficiency, and other causes were also found in a few cases. Conclusion Serum vitamin B12 and folate deficiency are the most common preventable causes of macrocytosis.
PubMed: 38524035
DOI: 10.7759/cureus.54702 -
Molecular Genetics & Genomic Medicine Mar 2024Although proteinuria is long recognized as an independent risk factor for progressive chronic kidney diseases, not all forms of proteinuria are detrimental to kidney...
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. CUBN biallelic pathogenic variants were identified and further analyzed by cDNA-PCR sequencing, immunohistochemistry, minigene assay, and multiple in silico prediction tools, including 3D protein modeling.
RESULTS
Here, we present four patients with isolated proteinuria caused by CUBN C-terminal biallelic pathogenic variants, all of which showed no typical IGS symptoms, such as anemia and vitamin B12 deficiency. Their urine protein levels fluctuated between +~++ and estimated glomerular filtration rate (eGFR) were normal or slightly higher. Mild mesangial hypercellularity was found in three children's renal biopsies. A homozygous splice-site variant of CUBN (c.6821+3 (IVS44) A>G) was proven to result in the exon 44 skipping and premature translation termination by cDNA sequencing and immunohistochemistry. Compound heterozygous mutations were identified among the other three children, including another novel splice-site variant (c.10764+1 (IVS66) G>A) causing the retention of first 4 nucleotides in intron 66 by minigene assay, two unreported missense mutations (c.4907G>A (p.R1636Q); c. 9095 A>G (p.Y3032C)), and two reported missense mutations in China (c.8938G>A (p.D2980N); c. 9287T>C (p.L3096P)), locating behind the vitamin B12-binding domain, affecting CUB11, CUB16, CUB22, CUB23, and CUB27 domains, respectively.
CONCLUSION
These results demonstrate that above CUBN mutations may cause non-progressive and isolated proteinuria, expanding the variant spectrum of CUBN and benefiting our understanding of proteinuria and renal function.
Topics: Child; Humans; DNA, Complementary; Proteinuria; Receptors, Cell Surface
PubMed: 38488435
DOI: 10.1002/mgg3.2353 -
Cureus Feb 2024Chronic diarrhea is a common disorder in tropical regions, affecting residents, visitors, and even expatriates. It may stem from a myriad of infectious, inflammatory,...
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. The diagnosis of TS was established after exclusion of other causes of malabsorption syndrome. This is a disease of unknown etiology with complex and multifactorial pathophysiology, with an important component of intestinal dysbiosis. Antibiotics and vitamin supplementation are the pillars of therapy. Awareness of this disorder is essential in preventing delayed diagnosis and subsequent morbidity.
PubMed: 38465131
DOI: 10.7759/cureus.53748 -
Cureus Feb 2024The 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...
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. However, their use in the pediatric population is limited due to a lack of validated reference intervals.
OBJECTIVE
The objective of the study is to assess the role of hematological indices in identifying adverse outcomes in terms of mortality in children admitted to the PICU.
MATERIALS AND METHODS
It is a prospective, observational study done at a tertiary care hospital. All children aged one year to 12 years admitted to the PICU were enrolled in the study. A sample for complete blood count was taken within one hour of admission to the PICU. Children who had received blood products in the last two months, those on chronic medications (>two weeks) that can affect bone marrow cellularity, and known cases of hematological disorders such as megaloblastic anemia, hematological malignancies, immune thrombocytopenia, and aplastic anemia were excluded from the study. PLR, NLR, and platelets to mean platelet volume ratio (PLT/MPV) were determined and compared among the survivors and non-survivors.
RESULTS
Out of 275 enrolled patients, 119 (43.3%) patients expired during the study period. While PLR had high sensitivity and NLR had high specificity (85.71% and 92.31%, respectively) for predicting mortality, none of these parameters had a good area under the curve (AUC) in our study. PLT/MPV of ≥32 had a sensitivity of 39.5% and a specificity of 56.41% for predicting mortality.
CONCLUSIONS
Hematological parameters have been used across the world to predict ICU mortality. PLR and NLR are simple hematological biomarkers, easy to calculate, and cost-effective, and ratios are better than individual parameters. More studies and stratified samples are required to evaluate the role of hematological markers in identifying the risk of mortality in children admitted to PICUs.
PubMed: 38465050
DOI: 10.7759/cureus.53744